| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852741 |
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852743 |
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852744 |
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852746 |
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852747 |
NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852748 |
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852749 |
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852751 |
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852752 |
NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs137852753 |
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs200948870 |
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) |
| Primary pulmonary hypertension 1 (due to ACVRL1) |
rs758683062 |
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs863223420 |
NM_001204.7(BMPR2):c.1128+1G>A |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs863223423 |
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs863223424 |
NM_001204.7(BMPR2):c.853-2A>G |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs863223425 |
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs863223426 |
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) |
| Primary dilated cardiomyopathy (due to TCAP) |
rs104894655 |
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) |
| Primary dilated cardiomyopathy (due to PLN) |
rs111033559 |
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) |
| Primary dilated cardiomyopathy (due to PLN) |
rs111033560 |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs111569862 |
NM_170707.4(LMNA):c.1609-1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs112240298 |
NM_001267550.2(TTN):c.98989+1G>A |
| Primary dilated cardiomyopathy (due to MYH7) |
rs121913625 |
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs121913642 |
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs121913647 |
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) |
| Primary dilated cardiomyopathy (due to NEXN) |
rs137853197 |
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) |
| Primary dilated cardiomyopathy (due to MYL2) |
rs143139258 |
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) |
| Primary dilated cardiomyopathy (due to SCN5A) |
rs199473161 |
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476310 |
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476311 |
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476317 |
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) |
| Primary dilated cardiomyopathy (due to MYPN) |
rs199476401 |
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) |
| Primary dilated cardiomyopathy (due to TTN) |
rs202234172 |
NM_001267550.2(TTN):c.31763-1G>A |
| Primary dilated cardiomyopathy (due to RBM20) |
rs267607002 |
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) |
| Primary dilated cardiomyopathy (due to RBM20) |
rs267607003 |
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) |
| Primary dilated cardiomyopathy (due to RBM20) |
rs267607004 |
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) |
| Primary dilated cardiomyopathy (due to TTN) |
rs267607155 |
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) |
| Primary dilated cardiomyopathy (due to DES) |
rs267607490 |
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607554 |
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607571 |
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607573 |
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607577 |
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607578 |
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607581 |
NM_170707.4(LMNA):c.1609-3C>G |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607593 |
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607594 |
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607618 |
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607646 |
NM_170707.4(LMNA):c.348dup (p.Lys117fs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs28933091 |
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs28933092 |
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs28933093 |
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) |
| Primary dilated cardiomyopathy (due to MYBPC3) |
rs371564200 |
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs377491278 |
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs386134243 |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) |
| Primary dilated cardiomyopathy (due to BAG3) |
rs387906875 |
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) |
| Primary dilated cardiomyopathy (due to TAFAZZIN) |
rs387907218 |
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) |
| Primary dilated cardiomyopathy (due to MYBPC3) |
rs397515939 |
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) |
| Primary dilated cardiomyopathy (due to MYBPC3) |
rs397516028 |
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) |
| Primary dilated cardiomyopathy (due to MYBPC3) |
rs397516073 |
NM_000256.3(MYBPC3):c.821+1G>A |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516089 |
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516123 |
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516142 |
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516165 |
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516224 |
NM_000257.4(MYH7):c.457del (p.His153fs) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516248 |
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516253 |
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516254 |
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516258 |
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs397516352 |
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs397516355 |
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs397516356 |
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516363 |
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516364 |
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516369 |
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516370 |
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516371 |
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516373 |
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs397516454 |
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs397516461 |
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs397516464 |
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs397516471 |
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) |
| Primary dilated cardiomyopathy (due to DSG2) |
rs397516706 |
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) |
| Primary dilated cardiomyopathy (due to PLN) |
rs397516784 |
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) |
| Primary dilated cardiomyopathy (due to BAG3) |
rs397516881 |
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516927 |
NM_004415.4(DSP):c.2848dup (p.Ile950fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516943 |
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516956 |
NM_004415.4(DSP):c.712dup (p.Ile238fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516973 |
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) |
| Primary dilated cardiomyopathy (due to VCL) |
rs397517244 |
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) |
| Primary dilated cardiomyopathy (due to VCL) |
rs397517245 |
NM_014000.3(VCL):c.659dup (p.Asn220fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517497 |
NM_001267550.2(TTN):c.1800+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517547 |
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517565 |
NM_001267550.2(TTN):c.41610del (p.Val13871fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517576 |
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517580 |
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517584 |
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517586 |
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517587 |
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517589 |
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517601 |
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517620 |
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517624 |
NM_001267550.2(TTN):c.56647+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517626 |
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517628 |
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517633 |
NM_001267550.2(TTN):c.57995del (p.His19332fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517643 |
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517664 |
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517689 |
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517695 |
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517696 |
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517698 |
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517721 |
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517735 |
NM_001267550.2(TTN):c.86821+2T>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517741 |
NM_001267550.2(TTN):c.89197_89197+2del |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517749 |
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517750 |
NM_001267550.2(TTN):c.90778dup (p.Tyr30260fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517776 |
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517787 |
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517830 |
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517886 |
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517887 |
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517889 |
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517895 |
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517904 |
NM_170707.4(LMNA):c.513+1G>C |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517906 |
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517908 |
NM_170707.4(LMNA):c.763del (p.Gln255fs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517909 |
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517911 |
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517915 |
NM_170707.4(LMNA):c.958del (p.Leu320fs) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs45478699 |
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs45516091 |
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs45544633 |
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) |
| Primary dilated cardiomyopathy (due to SCN5A) |
rs45546039 |
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs45578238 |
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs45586240 |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) |
| Primary dilated cardiomyopathy (due to TTN) |
rs557312035 |
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs56816490 |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs56984562 |
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) |
| Primary dilated cardiomyopathy (due to TTN) |
rs574660186 |
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs58013325 |
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs58389804 |
NM_170707.4(LMNA):c.1086del (p.Leu363fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs587782987 |
NM_001267550.2(TTN):c.50858-3C>T |
| Primary dilated cardiomyopathy (due to LMNA) |
rs58917027 |
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs58978449 |
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs59270054 |
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs59564495 |
NM_170707.4(LMNA):c.859del (p.Ala287fs) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs606231324 |
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs60682848 |
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs61046466 |
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs61195471 |
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs61444459 |
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) |
| Primary dilated cardiomyopathy (due to DES) |
rs62636492 |
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) |
| Primary dilated cardiomyopathy (due to TMEM43) |
rs63750743 |
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) |
| Primary dilated cardiomyopathy (due to TTN) |
rs6716782 |
NM_001267550.2(TTN):c.29042-2A>C |
| Primary dilated cardiomyopathy (due to TTN) |
rs72646846 |
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727503253 |
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727503254 |
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727503265 |
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs727503512 |
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503537 |
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503546 |
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503552 |
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503557 |
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503565 |
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503567 |
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503586 |
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503598 |
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503602 |
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503607 |
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503615 |
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727503658 |
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) |
| Primary dilated cardiomyopathy (due to VCL) |
rs727503738 |
NM_014000.3(VCL):c.1544-2A>G |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727504336 |
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs727504379 |
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) |
| Primary dilated cardiomyopathy (due to VCL) |
rs727504381 |
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs727504389 |
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504452 |
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504466 |
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs727504498 |
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504499 |
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504531 |
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504535 |
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504550 |
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) |
| Primary dilated cardiomyopathy (due to LAMP2) |
rs727504557 |
NM_013995.2(LAMP2):c.999del (p.Glu334fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504589 |
NM_001267550.2(TTN):c.45895+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504646 |
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504655 |
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504660 |
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504679 |
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504782 |
NM_001267550.2(TTN):c.83407del (p.Val27803fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504799 |
NM_001267550.2(TTN):c.51739+1G>C |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504825 |
NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504843 |
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504851 |
NM_001267550.2(TTN):c.49648+2del |
| Primary dilated cardiomyopathy (due to TTN) |
rs727504856 |
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505014 |
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) |
| Primary dilated cardiomyopathy (due to BAG3) |
rs727505109 |
NM_004281.3(BAG3):c.1067del (p.Pro356fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs727505115 |
NM_004415.4(DSP):c.2130+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505224 |
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505284 |
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505288 |
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505319 |
NM_001267550.2(TTN):c.97492+1G>C |
| Primary dilated cardiomyopathy (due to TTN) |
rs727505352 |
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) |
| Primary dilated cardiomyopathy (due to DSP) |
rs730880093 |
NM_004415.4(DSP):c.6393del (p.Gly2133fs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs730880132 |
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) |
| Primary dilated cardiomyopathy (due to TTN) |
rs730880244 |
NM_001267550.2(TTN):c.41609-2A>C |
| Primary dilated cardiomyopathy (due to TTN) |
rs730880343 |
NM_001267550.2(TTN):c.77421dup (p.Ser25808fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs730880365 |
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs730881097 |
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs74315379 |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs74315380 |
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) |
| Primary dilated cardiomyopathy (due to TTN) |
rs752856716 |
NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs756433029 |
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) |
| Primary dilated cardiomyopathy (due to DSG2) |
rs758537946 |
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) |
| Primary dilated cardiomyopathy (due to TTN) |
rs769407533 |
NM_001267550.2(TTN):c.95415_95416+2del |
| Primary dilated cardiomyopathy (due to TTN) |
rs771562210 |
NM_001267550.2(TTN):c.44281+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs774604740 |
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs780512337 |
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) |
| Primary dilated cardiomyopathy (due to VCL) |
rs781036800 |
NM_003373.4(VCL):c.2746-2193_2746-2192del |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728589 |
NM_170707.4(LMNA):c.356+1G>C |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728591 |
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728593 |
NM_170707.4(LMNA):c.768G>A (p.Val256=) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728597 |
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728602 |
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) |
| Primary dilated cardiomyopathy (due to TTN) |
rs794729265 |
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs794729285 |
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs794729320 |
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs794729324 |
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs868494032 |
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) |
| Primary dilated cardiomyopathy (due to DSP) |
rs869025398 |
NM_004415.4(DSP):c.1140+2T>G |
| Primary dilated cardiomyopathy (due to DSP) |
rs869025399 |
NM_004415.4(DSP):c.5725del (p.Ile1909fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869025545 |
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869025556 |
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) |
| Primary dilated cardiomyopathy (due to BAG3) |
rs869248137 |
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312037 |
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312070 |
NM_001256850.1(TTN):c.44423-1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312085 |
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312118 |
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs876657650 |
NM_170707.4(LMNA):c.476del (p.Glu159fs) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs876657662 |
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) |
| Primary dilated cardiomyopathy (due to DSP) |
rs879255521 |
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) |
| Marfan syndrome (due to FBN1) |
rs1057518881 |
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) |
| Marfan syndrome (due to FBN1) |
rs1057518912 |
NM_000138.4(FBN1):c.5416del (p.Cys1806fs) |
| Marfan syndrome (due to FBN1) |
rs1057518973 |
NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) |
| Marfan syndrome (due to FBN1) |
rs1057519320 |
NM_000138.4(FBN1):c.6004C>T (p.Pro2002Ser) |
| Marfan syndrome (due to FBN1) |
rs1057519502 |
NM_000138.4(FBN1):c.2563C>T (p.Gln855Ter) |
| Marfan syndrome (due to FBN1) |
rs1057520617 |
NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg) |
| Marfan syndrome (due to FBN1|LOC113939944) |
rs1057520656 |
NM_000138.4(FBN1):c.1011C>A (p.Tyr337Ter) |
| Marfan syndrome (due to FBN1) |
rs1057521100 |
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) |
| Marfan syndrome (due to FBN1) |
rs1057521102 |
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) |
| Marfan syndrome (due to FBN1) |
rs1057521859 |
NM_000138.4(FBN1):c.1522C>T (p.Gln508Ter) |
| Marfan syndrome (due to FBN1) |
rs1057523406 |
NM_000138.4(FBN1):c.2723G>C (p.Cys908Ser) |
| Marfan syndrome (due to FBN1) |
rs1057524458 |
NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser) |
| Marfan syndrome (due to FBN1) |
rs1060501027 |
NM_000138.4(FBN1):c.2028_2029insA (p.Ala677fs) |
| Marfan syndrome (due to FBN1) |
rs1060501029 |
NM_000138.4(FBN1):c.5672-87A>G |
| Marfan syndrome (due to FBN1) |
rs1060501042 |
NM_000138.4(FBN1):c.7650_7651insA (p.Glu2551fs) |
| Marfan syndrome (due to FBN1) |
rs1060501052 |
NM_000138.4(FBN1):c.2420-2A>G |
| Marfan syndrome (due to FBN1) |
rs1060501067 |
NM_000138.4(FBN1):c.7881dup (p.Ser2628fs) |
| Marfan syndrome (due to FBN1) |
rs1060501073 |
NM_000138.4(FBN1):c.1525G>T (p.Gly509Cys) |
| Marfan syndrome (due to FBN1) |
rs1060501075 |
NM_000138.4(FBN1):c.3419G>A (p.Cys1140Tyr) |
| Marfan syndrome (due to FBN1) |
rs1060501089 |
NM_000138.4(FBN1):c.5823_5824del (p.Cys1942fs) |
| Marfan syndrome (due to FBN1) |
rs1060501100 |
NM_000138.4(FBN1):c.799_805del (p.Gly267fs) |
| Marfan syndrome (due to FBN1) |
rs1064793980 |
NM_000138.4(FBN1):c.6616+1G>A |
| Marfan syndrome (due to FBN1) |
rs1064794130 |
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) |
| Marfan syndrome (due to FBN1) |
rs1085307468 |
NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr) |
| Marfan syndrome (due to FBN1) |
rs1085307531 |
NM_000138.4(FBN1):c.5993G>A (p.Cys1998Tyr) |
| Marfan syndrome (due to FBN1) |
rs1085308004 |
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) |
| Marfan syndrome (due to FBN1) |
rs111231312 |
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) |
| Marfan syndrome (due to FBN1) |
rs111401431 |
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) |
| Marfan syndrome (due to FBN1) |
rs111588631 |
NM_000138.4(FBN1):c.6952T>C (p.Cys2318Arg) |
| Marfan syndrome (due to FBN1) |
rs111671429 |
NM_000138.5(FBN1):c.510C>G |
| Marfan syndrome (due to FBN1) |
rs111687884 |
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) |
| Marfan syndrome (due to TGFBR1) |
rs111854391 |
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) |
| Marfan syndrome (due to FBN1) |
rs111856492 |
NM_000138.4(FBN1):c.7892G>T (p.Cys2631Phe) |
| Marfan syndrome (due to FBN1) |
rs111929350 |
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) |
| Marfan syndrome (due to FBN1) |
rs111978932 |
NM_000138.4(FBN1):c.4454G>C (p.Cys1485Ser) |
| Marfan syndrome (due to FBN1) |
rs112196241 |
NM_000138.4(FBN1):c.7982A>G (p.Tyr2661Cys) |
| Marfan syndrome (due to FBN1) |
rs112202622 |
NM_000138.4(FBN1):c.2855-1G>C |
| Marfan syndrome (due to FBN1) |
rs112202622 |
NM_000138.5(FBN1):c.2855-1G>A |
| Marfan syndrome (due to FBN1) |
rs112289537 |
NM_000138.4(FBN1):c.1211del (p.Pro404fs) |
| Marfan syndrome (due to FBN1) |
rs112375043 |
NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp) |
| Marfan syndrome (due to FBN1) |
rs112547596 |
NM_000138.4(FBN1):c.3299G>C (p.Gly1100Ala) |
| Marfan syndrome (due to FBN1) |
rs112550005 |
NM_000138.4(FBN1):c.7240C>T (p.Arg2414Ter) |
| Marfan syndrome (due to FBN1) |
rs112642323 |
NM_000138.4(FBN1):c.8148C>G (p.Tyr2716Ter) |
| Marfan syndrome (due to FBN1) |
rs112645512 |
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) |
| Marfan syndrome (due to FBN1) |
rs112660651 |
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) |
| Marfan syndrome (due to FBN1) |
rs112660651 |
NM_000138.4(FBN1):c.266G>C (p.Cys89Ser) |
| Marfan syndrome (due to FBN1) |
rs112728248 |
NM_000138.4(FBN1):c.5627G>A (p.Cys1876Tyr) |
| Marfan syndrome (due to FBN1) |
rs112836174 |
NM_000138.4(FBN1):c.6751T>C (p.Cys2251Arg) |
| Marfan syndrome (due to FBN1) |
rs112930491 |
NM_000138.4(FBN1):c.5014T>G (p.Cys1672Gly) |
| Marfan syndrome (due to FBN1) |
rs112989722 |
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) |
| Marfan syndrome (due to FBN1) |
rs113001196 |
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) |
| Marfan syndrome (due to FBN1) |
rs113082854 |
NM_000138.4(FBN1):c.4460-1G>C |
| Marfan syndrome (due to FBN1) |
rs113086760 |
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) |
| Marfan syndrome (due to FBN1) |
rs1131691467 |
NM_000138.4(FBN1):c.6332G>A (p.Cys2111Tyr) |
| Marfan syndrome (due to FBN1) |
rs1131691479 |
NM_000138.4(FBN1):c.7217G>A (p.Cys2406Tyr) |
| Marfan syndrome (due to FBN1) |
rs1131691804 |
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) |
| Marfan syndrome (due to FBN1) |
rs1131691806 |
NM_000138.4(FBN1):c.3412T>C (p.Cys1138Arg) |
| Marfan syndrome (due to FBN1) |
rs1131691938 |
NM_000138.4(FBN1):c.5839T>C (p.Cys1947Arg) |
| Marfan syndrome (due to FBN1) |
rs1131692050 |
NM_000138.4(FBN1):c.3192del (p.Glu1065fs) |
| Marfan syndrome (due to FBN1) |
rs113249837 |
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) |
| Marfan syndrome (due to FBN1) |
rs113393517 |
NM_000138.4(FBN1):c.3959G>C (p.Cys1320Ser) |
| Marfan syndrome (due to FBN1) |
rs113543334 |
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) |
| Marfan syndrome (due to FBN1) |
rs113604459 |
NM_000138.4(FBN1):c.202T>C (p.Cys68Arg) |
| Marfan syndrome (due to FBN1) |
rs113812345 |
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) |
| Marfan syndrome (due to FBN1) |
rs113871094 |
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) |
| Marfan syndrome (due to FBN1) |
rs113905529 |
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) |
| Marfan syndrome (due to FBN1) |
rs137854457 |
NM_000138.4(FBN1):c.6920G>C (p.Cys2307Ser) |
| Marfan syndrome (due to FBN1) |
rs137854458 |
NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser) |
| Marfan syndrome (due to FBN1) |
rs137854459 |
NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg) |
| Marfan syndrome (due to FBN1) |
rs137854460 |
NM_000138.4(FBN1):c.6662G>C (p.Cys2221Ser) |
| Marfan syndrome (due to FBN1) |
rs137854461 |
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) |
| Marfan syndrome (due to FBN1) |
rs137854462 |
NM_000138.4(FBN1):c.1643A>T (p.Asn548Ile) |
| Marfan syndrome (due to FBN1) |
rs137854463 |
NM_000138.4(FBN1):c.2168A>C (p.Asp723Ala) |
| Marfan syndrome (due to FBN1) |
rs137854464 |
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) |
| Marfan syndrome (due to FBN1) |
rs137854466 |
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) |
| Marfan syndrome (due to FBN1) |
rs137854467 |
NM_000138.5(FBN1):c.364C>T |
| Marfan syndrome (due to FBN1) |
rs137854469 |
NM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854470 |
NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854471 |
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854474 |
NM_000138.4(FBN1):c.3793T>C (p.Cys1265Arg) |
| Marfan syndrome (due to FBN1) |
rs137854476 |
NM_000138.4(FBN1):c.1585C>T (p.Arg529Ter) |
| Marfan syndrome (due to FBN1) |
rs137854478 |
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) |
| Marfan syndrome (due to FBN1) |
rs137854479 |
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) |
| Marfan syndrome (due to FBN1) |
rs137854480 |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) |
| Marfan syndrome (due to FBN1) |
rs137854481 |
NM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854482 |
NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854483 |
NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr) |
| Marfan syndrome (due to FBN1) |
rs140583 |
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) |
| Marfan syndrome (due to FBN1) |
rs140592 |
NM_000138.4(FBN1):c.2986T>C (p.Cys996Arg) |
| Marfan syndrome (due to FBN1) |
rs140593 |
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) |
| Marfan syndrome (due to FBN1) |
rs140597 |
NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) |
| Marfan syndrome (due to FBN1) |
rs140603 |
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) |
| Marfan syndrome (due to FBN1) |
rs140627 |
NM_000138.4(FBN1):c.5015G>T (p.Cys1672Phe) |
| Marfan syndrome (due to FBN1) |
rs140630 |
NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter) |
| Marfan syndrome (due to FBN1) |
rs140648 |
NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) |
| Marfan syndrome (due to FBN1) |
rs193921256 |
NM_000138.4(FBN1):c.2433C>A (p.Cys811Ter) |
| Marfan syndrome (due to FBN1) |
rs193922181 |
NM_000138.4(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) |
| Marfan syndrome (due to FBN1) |
rs193922182 |
NM_000138.4(FBN1):c.1709del (p.Cys570fs) |
| Marfan syndrome (due to FBN1) |
rs193922185 |
NM_000138.5(FBN1):c.1948C>T |
| Marfan syndrome (due to FBN1) |
rs193922186 |
NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp) |
| Marfan syndrome (due to FBN1) |
rs193922187 |
NM_000138.4(FBN1):c.2186del (p.Leu729fs) |
| Marfan syndrome (due to FBN1) |
rs193922188 |
NM_000138.4(FBN1):c.2369G>C (p.Cys790Ser) |
| Marfan syndrome (due to FBN1) |
rs193922189 |
NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro) |
| Marfan syndrome (due to FBN1) |
rs193922191 |
NM_000138.4(FBN1):c.2542A>C (p.Thr848Pro) |
| Marfan syndrome (due to FBN1) |
rs193922193 |
NM_000138.4(FBN1):c.2677G>C (p.Asp893His) |
| Marfan syndrome (due to FBN1) |
rs193922194 |
NM_000138.4(FBN1):c.2682del (p.Ile895fs) |
| Marfan syndrome (due to FBN1) |
rs193922197 |
NM_000138.4(FBN1):c.3140_3141del (p.Thr1047fs) |
| Marfan syndrome (due to FBN1) |
rs193922198 |
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) |
| Marfan syndrome (due to FBN1) |
rs193922199 |
NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter) |
| Marfan syndrome (due to FBN1) |
rs193922203 |
NM_000138.4(FBN1):c.4165T>G (p.Cys1389Gly) |
| Marfan syndrome (due to FBN1) |
rs193922204 |
NM_000138.4(FBN1):c.4460-8G>A |
| Marfan syndrome (due to FBN1) |
rs193922206 |
NM_000138.4(FBN1):c.454A>T (p.Ser152Cys) |
| Marfan syndrome (due to FBN1) |
rs193922207 |
NM_000138.4(FBN1):c.4684T>A (p.Cys1562Ser) |
| Marfan syndrome (due to FBN1) |
rs193922214 |
NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser) |
| Marfan syndrome (due to FBN1) |
rs193922216 |
NM_000138.4(FBN1):c.5671G>C (p.Asp1891His) |
| Marfan syndrome (due to FBN1) |
rs193922218 |
NM_000138.4(FBN1):c.56C>T (p.Ser19Phe) |
| Marfan syndrome (due to FBN1) |
rs193922220 |
NM_000138.4(FBN1):c.6006_6012dup (p.Ser2005fs) |
| Marfan syndrome (due to FBN1) |
rs193922223 |
NM_000138.4(FBN1):c.6385G>T (p.Asp2129Tyr) |
| Marfan syndrome (due to FBN1) |
rs193922224 |
NM_000138.4(FBN1):c.649T>G (p.Trp217Gly) |
| Marfan syndrome (due to FBN1) |
rs193922225 |
NM_000138.4(FBN1):c.6553_6556dup (p.Gly2186fs) |
| Marfan syndrome (due to FBN1) |
rs193922226 |
NM_000138.4(FBN1):c.6704del (p.Gly2235fs) |
| Marfan syndrome (due to FBN1) |
rs193922227 |
NM_000138.4(FBN1):c.6793_6800dup (p.Leu2268fs) |
| Marfan syndrome (due to FBN1) |
rs193922228 |
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) |
| Marfan syndrome (due to FBN1) |
rs193922230 |
NM_000138.4(FBN1):c.7229A>C (p.His2410Pro) |
| Marfan syndrome (due to FBN1) |
rs193922235 |
NM_000138.4(FBN1):c.7678del (p.Gln2560fs) |
| Marfan syndrome (due to FBN1) |
rs193922236 |
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) |
| Marfan syndrome (due to FBN1) |
rs193922239 |
NM_000138.4(FBN1):c.7879G>A (p.Gly2627Arg) |
| Marfan syndrome (due to FBN1) |
rs193922240 |
NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) |
| Marfan syndrome (due to FBN1) |
rs193922241 |
NM_000138.4(FBN1):c.8203del (p.Glu2735fs) |
| Marfan syndrome (due to FBN1) |
rs193922246 |
NM_000138.4(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) |
| Marfan syndrome (due to KCNQ1) |
rs199472823 |
NM_181798.1(KCNQ1):c.227T>C (p.Leu76Pro) |
| Marfan syndrome (due to FBN1) |
rs199474693 |
NM_000138.4(FBN1):c.385T>G (p.Cys129Gly) |
| Marfan syndrome (due to FBN1) |
rs25403 |
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) |
| Marfan syndrome (due to FBN1) |
rs25404 |
NM_000138.5(FBN1):c.247+1G>A |
| Marfan syndrome (due to FBN1) |
rs267606796 |
NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter) |
| Marfan syndrome (due to FBN1) |
rs267606797 |
NM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter) |
| Marfan syndrome (due to FBN1) |
rs267606798 |
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) |
| Marfan syndrome (due to FBN1) |
rs363807 |
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) |
| Marfan syndrome (due to FBN1) |
rs363808 |
NM_000138.5(FBN1):c.5917+1G>T |
| Marfan syndrome (due to FBN1) |
rs363810 |
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) |
| Marfan syndrome (due to FBN1) |
rs363815 |
NM_000138.4(FBN1):c.6331T>C (p.Cys2111Arg) |
| Marfan syndrome (due to FBN1) |
rs363852 |
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) |
| Marfan syndrome (due to FBN1) |
rs363853 |
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) |
| Marfan syndrome (due to FBN1) |
rs387906548 |
NM_000138.4(FBN1):c.4087+1G>A |
| Marfan syndrome (due to FBN1) |
rs387906623 |
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) |
| Marfan syndrome (due to FBN1) |
rs397514558 |
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) |
| Marfan syndrome (due to FBN1|LOC113939944) |
rs397515753 |
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) |
| Marfan syndrome (due to FBN1) |
rs397515754 |
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) |
| Marfan syndrome (due to FBN1|LOC113939944) |
rs397515755 |
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) |
| Marfan syndrome (due to FBN1) |
rs397515757 |
NM_000138.5(FBN1):c.1468+5G>A |
| Marfan syndrome (due to FBN1) |
rs397515758 |
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) |
| Marfan syndrome (due to FBN1) |
rs397515759 |
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515762 |
NM_000138.5(FBN1):c.1837+1G>T |
| Marfan syndrome (due to FBN1) |
rs397515765 |
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) |
| Marfan syndrome (due to FBN1) |
rs397515766 |
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) |
| Marfan syndrome (due to FBN1) |
rs397515767 |
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515768 |
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) |
| Marfan syndrome (due to FBN1) |
rs397515769 |
NM_000138.4(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) |
| Marfan syndrome (due to FBN1) |
rs397515770 |
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) |
| Marfan syndrome (due to FBN1) |
rs397515771 |
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) |
| Marfan syndrome (due to FBN1) |
rs397515773 |
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly) |
| Marfan syndrome (due to FBN1) |
rs397515774 |
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) |
| Marfan syndrome (due to FBN1) |
rs397515775 |
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515776 |
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) |
| Marfan syndrome (due to FBN1) |
rs397515779 |
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) |
| Marfan syndrome (due to FBN1) |
rs397515781 |
NM_000138.4(FBN1):c.2833del (p.Ala945fs) |
| Marfan syndrome (due to FBN1) |
rs397515784 |
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) |
| Marfan syndrome (due to FBN1) |
rs397515785 |
NM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs) |
| Marfan syndrome (due to FBN1) |
rs397515786 |
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515788 |
NM_000138.4(FBN1):c.3274del (p.Asp1092fs) |
| Marfan syndrome (due to FBN1) |
rs397515789 |
NM_000138.5(FBN1):c.3337+1G>A |
| Marfan syndrome (due to FBN1) |
rs397515790 |
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) |
| Marfan syndrome (due to FBN1) |
rs397515791 |
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) |
| Marfan syndrome (due to FBN1) |
rs397515792 |
NM_000138.5(FBN1):c.3463+1G>T |
| Marfan syndrome (due to FBN1) |
rs397515793 |
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) |
| Marfan syndrome (due to FBN1) |
rs397515794 |
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515797 |
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) |
| Marfan syndrome (due to FBN1) |
rs397515798 |
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) |
| Marfan syndrome (due to FBN1) |
rs397515799 |
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) |
| Marfan syndrome (due to FBN1) |
rs397515801 |
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) |
| Marfan syndrome (due to FBN1) |
rs397515802 |
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) |
| Marfan syndrome (due to FBN1) |
rs397515803 |
NM_000138.4(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) |
| Marfan syndrome (due to FBN1) |
rs397515804 |
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515805 |
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) |
| Marfan syndrome (due to FBN1) |
rs397515808 |
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) |
| Marfan syndrome (due to FBN1) |
rs397515810 |
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515811 |
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) |
| Marfan syndrome (due to FBN1) |
rs397515812 |
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) |
| Marfan syndrome (due to FBN1) |
rs397515814 |
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515816 |
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) |
| Marfan syndrome (due to FBN1) |
rs397515817 |
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515818 |
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) |
| Marfan syndrome (due to FBN1) |
rs397515819 |
NM_000138.5(FBN1):c.5066-1G>C |
| Marfan syndrome (due to FBN1) |
rs397515820 |
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) |
| Marfan syndrome (due to FBN1) |
rs397515821 |
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) |
| Marfan syndrome (due to FBN1) |
rs397515823 |
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) |
| Marfan syndrome (due to FBN1) |
rs397515825 |
NM_000138.4(FBN1):c.561del (p.Phe187fs) |
| Marfan syndrome (due to FBN1) |
rs397515826 |
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) |
| Marfan syndrome (due to FBN1) |
rs397515828 |
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515829 |
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) |
| Marfan syndrome (due to FBN1) |
rs397515830 |
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515831 |
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) |
| Marfan syndrome (due to FBN1) |
rs397515833 |
NM_000138.5(FBN1):c.6379+1G>A |
| Marfan syndrome (due to FBN1) |
rs397515837 |
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser) |
| Marfan syndrome (due to FBN1) |
rs397515840 |
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) |
| Marfan syndrome (due to FBN1) |
rs397515845 |
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515847 |
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) |
| Marfan syndrome (due to FBN1) |
rs397515848 |
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) |
| Marfan syndrome (due to FBN1) |
rs397515851 |
NM_000138.5(FBN1):c.7453+1G>T |
| Marfan syndrome (due to FBN1) |
rs397515853 |
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) |
| Marfan syndrome (due to FBN1) |
rs397515854 |
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) |
| Marfan syndrome (due to FBN1) |
rs397515859 |
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515861 |
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) |
| Marfan syndrome (due to FBN1) |
rs397515864 |
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) |
| Marfan syndrome (due to FBN1) |
rs397515865 |
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) |
| Marfan syndrome (due to FBN1) |
rs397515866 |
NM_000138.4(FBN1):c.8605_8606del (p.Leu2869fs) |
| Marfan syndrome (due to FBN1) |
rs397515867 |
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) |
| Marfan syndrome (due to FBN1) |
rs398122833 |
NM_000138.4(FBN1):c.8226+1G>T |
| Marfan syndrome (due to FBN1) |
rs398122934 |
NM_000138.4(FBN1):c.4253_4259del (p.Gly1418fs) |
| Marfan syndrome (due to FBN1) |
rs587782944 |
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) |
| Marfan syndrome (due to FBN1) |
rs587782947 |
NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe) |
| Marfan syndrome (due to FBN1) |
rs587782948 |
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) |
| Marfan syndrome (due to FBN1) |
rs672601352 |
NM_000138.4(FBN1):c.1156_1167del (p.Asn386_Cys389del) |
| Marfan syndrome (due to FBN1) |
rs727503054 |
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) |
| Marfan syndrome (due to FBN1) |
rs727503057 |
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) |
| Marfan syndrome (due to FBN1) |
rs727503058 |
NM_000138.5(FBN1):c.164+2T>C |
| Marfan syndrome (due to FBN1) |
rs727504315 |
NM_000138.4(FBN1):c.5888del (p.Glu1963fs) |
| Marfan syndrome (due to FBN1) |
rs727504347 |
NM_000138.4(FBN1):c.5066del (p.Asp1689fs) |
| Marfan syndrome (due to FBN1) |
rs727504410 |
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) |
| Marfan syndrome (due to FBN1) |
rs727504411 |
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) |
| Marfan syndrome (due to FBN1) |
rs727504454 |
NM_000138.4(FBN1):c.8473_8475del (p.Gly2825del) |
| Marfan syndrome (due to FBN1) |
rs727505006 |
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) |
| Marfan syndrome (due to FBN1) |
rs727505110 |
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) |
| Marfan syndrome (due to FBN1) |
rs727505269 |
NM_000138.4(FBN1):c.660del (p.Cys221fs) |
| Marfan syndrome (due to FBN1) |
rs730880097 |
NM_000138.4(FBN1):c.1A>G (p.Met1Val) |
| Marfan syndrome (due to FBN1) |
rs730880098 |
NM_000138.4(FBN1):c.281G>T (p.Cys94Phe) |
| Marfan syndrome (due to FBN1) |
rs730880099 |
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) |
| Marfan syndrome (due to FBN1) |
rs730880100 |
NM_000138.4(FBN1):c.3131G>A (p.Cys1044Tyr) |
| Marfan syndrome (due to FBN1) |
rs730880101 |
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) |
| Marfan syndrome (due to FBN1) |
rs730880103 |
NM_000138.4(FBN1):c.5280T>A (p.Tyr1760Ter) |
| Marfan syndrome (due to FBN1) |
rs730880104 |
NM_000138.4(FBN1):c.5861T>G (p.Phe1954Cys) |
| Marfan syndrome (due to FBN1) |
rs730880105 |
NM_000138.4(FBN1):c.2113+2T>C |
| Marfan syndrome (due to FBN1) |
rs730880106 |
NM_000138.4(FBN1):c.4210+1G>A |
| Marfan syndrome (due to FBN1) |
rs730880107 |
NM_000138.4(FBN1):c.6739+2T>A |
| Marfan syndrome (due to FBN1) |
rs730880108 |
NM_000138.4(FBN1):c.320_321del (p.Ile107fs) |
| Marfan syndrome (due to FBN1) |
rs730880356 |
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) |
| Marfan syndrome (due to FBN1) |
rs761857514 |
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) |
| Marfan syndrome (due to FBN1) |
rs778966916 |
NM_000138.4(FBN1):c.4583-5A>G |
| Marfan syndrome (due to FBN1) |
rs794728162 |
NM_000138.5(FBN1):c.640G>A |
| Marfan syndrome (due to FBN1|LOC113939944) |
rs794728165 |
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) |
| Marfan syndrome (due to FBN1) |
rs794728174 |
NM_000138.4(FBN1):c.1726T>G (p.Cys576Gly) |
| Marfan syndrome (due to FBN1) |
rs794728190 |
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728192 |
NM_000138.4(FBN1):c.2539+1G>A |
| Marfan syndrome (due to FBN1) |
rs794728193 |
NM_000138.4(FBN1):c.2627G>A (p.Cys876Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728194 |
NM_000138.4(FBN1):c.2638G>C (p.Gly880Arg) |
| Marfan syndrome (due to FBN1) |
rs794728195 |
NM_000138.5(FBN1):c.2645C>T |
| Marfan syndrome (due to FBN1) |
rs794728197 |
NM_000138.4(FBN1):c.2806C>T (p.Gln936Ter) |
| Marfan syndrome (due to FBN1) |
rs794728199 |
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) |
| Marfan syndrome (due to FBN1) |
rs794728203 |
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) |
| Marfan syndrome (due to FBN1) |
rs794728204 |
NM_000138.4(FBN1):c.3463G>A (p.Asp1155Asn) |
| Marfan syndrome (due to FBN1) |
rs794728206 |
NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) |
| Marfan syndrome (due to FBN1) |
rs794728210 |
NM_000138.4(FBN1):c.3838G>A (p.Asp1280Asn) |
| Marfan syndrome (due to FBN1) |
rs794728213 |
NM_000138.4(FBN1):c.164+1G>A |
| Marfan syndrome (due to FBN1) |
rs794728214 |
NM_000138.4(FBN1):c.3975A>C (p.Glu1325Asp) |
| Marfan syndrome (due to FBN1) |
rs794728216 |
NM_000138.4(FBN1):c.4337-2A>G |
| Marfan syndrome (due to FBN1) |
rs794728228 |
NM_000138.4(FBN1):c.4621C>T (p.Arg1541Ter) |
| Marfan syndrome (due to FBN1) |
rs794728231 |
NM_000138.4(FBN1):c.4888C>T (p.Gln1630Ter) |
| Marfan syndrome (due to FBN1) |
rs794728234 |
NM_000138.4(FBN1):c.5208T>A (p.Cys1736Ter) |
| Marfan syndrome (due to FBN1) |
rs794728237 |
NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728240 |
NM_000138.4(FBN1):c.5801G>A (p.Cys1934Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728249 |
NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg) |
| Marfan syndrome (due to FBN1) |
rs794728251 |
NM_000138.5(FBN1):c.6453C>T |
| Marfan syndrome (due to FBN1) |
rs794728254 |
NM_000138.4(FBN1):c.6650G>A (p.Cys2217Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728256 |
NM_000138.4(FBN1):c.6752G>A (p.Cys2251Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728265 |
NM_000138.4(FBN1):c.7125T>A (p.Cys2375Ter) |
| Marfan syndrome (due to FBN1) |
rs794728266 |
NM_000138.4(FBN1):c.7205-1G>A |
| Marfan syndrome (due to FBN1) |
rs794728270 |
NM_000138.4(FBN1):c.7253G>A (p.Cys2418Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728272 |
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) |
| Marfan syndrome (due to FBN1) |
rs794728276 |
NM_000138.4(FBN1):c.7624C>T (p.Gln2542Ter) |
| Marfan syndrome (due to FBN1) |
rs794728280 |
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) |
| Marfan syndrome (due to FBN1) |
rs794728281 |
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) |
| Marfan syndrome (due to FBN1) |
rs794728283 |
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) |
| Marfan syndrome (due to FBN1) |
rs794728308 |
NM_000138.4(FBN1):c.4405del (p.Arg1469fs) |
| Marfan syndrome (due to FBN1) |
rs794728319 |
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) |
| Marfan syndrome (due to FBN1) |
rs794728321 |
NM_000138.4(FBN1):c.8154dup (p.Lys2719Ter) |
| Marfan syndrome (due to FBN1) |
rs794728322 |
NM_000138.4(FBN1):c.2728+1G>C |
| Marfan syndrome (due to FBN1) |
rs794728323 |
NM_000138.4(FBN1):c.8544dup (p.Tyr2849fs) |
| Marfan syndrome (due to FBN1) |
rs794728326 |
NM_000138.4(FBN1):c.1426T>G (p.Cys476Gly) |
| Marfan syndrome (due to FBN1) |
rs794728334 |
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) |
| Marfan syndrome (due to FBN1) |
rs794728335 |
NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728337 |
NM_000138.4(FBN1):c.7832G>A (p.Cys2611Tyr) |
| Marfan syndrome (due to FBN1) |
rs864622754 |
NM_000138.4(FBN1):c.7169G>A (p.Cys2390Tyr) |
| Marfan syndrome (due to FBN1) |
rs869025404 |
NM_000138.4(FBN1):c.1909T>C (p.Cys637Arg) |
| Marfan syndrome (due to FBN1) |
rs869025405 |
NM_000138.4(FBN1):c.2695G>A (p.Gly899Arg) |
| Marfan syndrome (due to FBN1) |
rs869025411 |
NM_000138.4(FBN1):c.6694T>C (p.Cys2232Arg) |
| Marfan syndrome (due to FBN1) |
rs869025412 |
NM_000138.4(FBN1):c.6820T>C (p.Cys2274Arg) |
| Marfan syndrome (due to FBN1) |
rs869025414 |
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) |
| Marfan syndrome (due to FBN1) |
rs869025416 |
NM_000138.4(FBN1):c.7769G>A (p.Cys2590Tyr) |
| Marfan syndrome (due to FBN1) |
rs869025417 |
NM_000138.4(FBN1):c.8339T>C (p.Leu2780Pro) |
| Marfan syndrome (due to FBN1) |
rs869025418 |
NM_000138.4(FBN1):c.5918-2A>G |
| Marfan syndrome (due to FBN1) |
rs869025419 |
NM_000138.4(FBN1):c.6739+1G>A |
| Marfan syndrome (due to FBN1) |
rs869025420 |
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs) |
| Marfan syndrome (due to FBN1) |
rs869025421 |
NM_000138.4(FBN1):c.4197del (p.Phe1400fs) |
| Marfan syndrome (due to FBN1) |
rs869025422 |
NM_000138.4(FBN1):c.7109del (p.Gly2370fs) |
| Marfan syndrome (due to FBN1) |
rs869025423 |
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) |
| Marfan syndrome (due to FBN1) |
rs869025424 |
NM_000138.4(FBN1):c.7259del (p.Asn2420fs) |
| Marfan syndrome (due to FBN1) |
rs869025425 |
NM_000138.4(FBN1):c.3893del (p.Asn1298fs) |
| Marfan syndrome (due to FBN1) |
rs869025425 |
NM_000138.4(FBN1):c.3893dup (p.Asn1298fs) |
| Marfan syndrome (due to FBN1) |
rs869025426 |
NM_000138.4(FBN1):c.5016dup (p.Ile1673fs) |
| Marfan syndrome (due to FBN1) |
rs876657645 |
NM_000138.4(FBN1):c.1714+2del |
| Marfan syndrome (due to FBN1) |
rs878853676 |
NM_000138.4(FBN1):c.1916G>A (p.Cys639Tyr) |
| Marfan syndrome (due to FBN1) |
rs878853682 |
NM_000138.4(FBN1):c.434G>A (p.Cys145Tyr) |
| Marfan syndrome (due to FBN1) |
rs878853685 |
NM_000138.4(FBN1):c.5038C>T (p.Gln1680Ter) |
| Marfan syndrome (due to FBN1) |
rs878853686 |
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) |
| Marfan syndrome (due to FBN1) |
rs878853689 |
NM_000138.4(FBN1):c.732T>A (p.Cys244Ter) |
| Marfan syndrome (due to FBN1) |
rs886038786 |
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) |
| Marfan syndrome (due to FBN1) |
rs886038795 |
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) |
| Marfan syndrome (due to FBN1) |
rs886038797 |
NM_000138.4(FBN1):c.7C>T (p.Arg3Ter) |
| Marfan syndrome (due to FBN1) |
rs886038817 |
NM_000138.4(FBN1):c.1571del (p.Thr524fs) |
| Marfan syndrome (due to FBN1) |
rs886038848 |
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) |
| Marfan syndrome (due to FBN1) |
rs886038869 |
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) |
| Marfan syndrome (due to FBN1) |
rs886038940 |
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) |
| Marfan syndrome (due to FBN1) |
rs886038949 |
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) |
| Marfan syndrome (due to FBN1) |
rs886039036 |
NM_000138.4(FBN1):c.439C>T (p.Gln147Ter) |
| Marfan syndrome (due to FBN1|LOC113939944) |
rs886039066 |
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) |
| Marfan syndrome (due to FBN1) |
rs886041349 |
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) |
| Marfan syndrome (due to FBN1) |
rs886041440 |
NM_000138.4(FBN1):c.2114-2A>C |
| Marfan syndrome (due to FBN1) |
rs886043709 |
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) |
| Long QT syndrome (due to KCNQ1) |
rs104894252 |
NM_181798.1(KCNQ1):c.184G>A (p.Gly62Arg) |
| Long QT syndrome (due to KCNH2) |
rs1057517742 |
NM_172056.2(KCNH2):c.545C>A (p.Ser182Ter) |
| Long QT syndrome (due to KCNH2) |
rs1057518151 |
NM_000238.3(KCNH2):c.3152+1G>T |
| Long QT syndrome (due to KCNH2) |
rs1057520558 |
NM_000238.3(KCNH2):c.3027C>G (p.Tyr1009Ter) |
| Long QT syndrome (due to KCNH2) |
rs1057520598 |
NM_172056.2(KCNH2):c.308-2A>G |
| Long QT syndrome (due to KCNQ1) |
rs1060500626 |
NM_181798.1(KCNQ1):c.364_373del (p.Arg122fs) |
| Long QT syndrome (due to KCNH2) |
rs1060500662 |
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs) |
| Long QT syndrome (due to KCNQ1) |
rs1064795333 |
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) |
| Long QT syndrome (due to CAV3) |
rs116840778 |
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) |
| Long QT syndrome (due to CAV3) |
rs116840795 |
NM_001234.5(CAV3):c.169G>A (p.Val57Met) |
| Long QT syndrome (due to KCNQ1) |
rs120074177 |
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) |
| Long QT syndrome (due to KCNQ1) |
rs120074178 |
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) |
| Long QT syndrome (due to KCNQ1) |
rs120074178 |
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) |
| Long QT syndrome (due to KCNQ1) |
rs120074179 |
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) |
| Long QT syndrome (due to KCNQ1) |
rs120074180 |
NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe) |
| Long QT syndrome (due to KCNQ1) |
rs120074182 |
NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) |
| Long QT syndrome (due to KCNQ1) |
rs120074184 |
NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser) |
| Long QT syndrome (due to KCNQ1) |
rs120074185 |
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) |
| Long QT syndrome (due to KCNQ1) |
rs120074186 |
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) |
| Long QT syndrome (due to KCNQ1) |
rs120074189 |
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) |
| Long QT syndrome (due to KCNQ1) |
rs120074190 |
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) |
| Long QT syndrome (due to KCNQ1) |
rs120074193 |
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) |
| Long QT syndrome (due to KCNQ1) |
rs120074194 |
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) |
| Long QT syndrome (due to KCNH2) |
rs121912504 |
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) |
| Long QT syndrome (due to KCNH2) |
rs121912506 |
NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) |
| Long QT syndrome (due to KCNH2) |
rs121912507 |
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) |
| Long QT syndrome (due to KCNH2) |
rs121912508 |
NM_172056.2(KCNH2):c.1744C>T (p.Arg582Cys) |
| Long QT syndrome (due to KCNH2) |
rs121912509 |
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) |
| Long QT syndrome (due to KCNH2) |
rs121912510 |
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) |
| Long QT syndrome (due to KCNH2) |
rs121912512 |
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) |
| Long QT syndrome (due to KCNQ1) |
rs12720458 |
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) |
| Long QT syndrome (due to KCNQ1) |
rs12720459 |
NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu) |
| Long QT syndrome (due to KCNQ1) |
rs12720459 |
NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val) |
| Long QT syndrome (due to KCNQ1) |
rs151344631 |
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) |
| Long QT syndrome (due to KCNQ1) |
rs17215500 |
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) |
| Long QT syndrome (due to KCNQ1) |
rs179489 |
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) |
| Long QT syndrome (due to KCNQ1) |
rs179489 |
NM_181798.1(KCNQ1):c.121G>C (p.Gly41Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199472696 |
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) |
| Long QT syndrome (due to KCNQ1) |
rs199472702 |
NM_181798.1(KCNQ1):c.223G>A (p.Asp75Asn) |
| Long QT syndrome (due to KCNQ1) |
rs199472705 |
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) |
| Long QT syndrome (due to KCNQ1) |
rs199472709 |
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) |
| Long QT syndrome (due to KCNQ1) |
rs199472710 |
NM_181798.1(KCNQ1):c.323T>A (p.Ile108Asn) |
| Long QT syndrome (due to KCNQ1) |
rs199472712 |
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) |
| Long QT syndrome (due to KCNQ1) |
rs199472712 |
NM_181798.1(KCNQ1):c.343G>T (p.Asp115Tyr) |
| Long QT syndrome (due to KCNQ1) |
rs199472713 |
NM_181798.1(KCNQ1):c.346C>T (p.Arg116Cys) |
| Long QT syndrome (due to KCNQ1) |
rs199472719 |
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) |
| Long QT syndrome (due to KCNQ1) |
rs199472720 |
NM_181798.1(KCNQ1):c.395G>T (p.Arg132Leu) |
| Long QT syndrome (due to KCNQ1) |
rs199472751 |
NM_181798.1(KCNQ1):c.568G>A (p.Asp190Asn) |
| Long QT syndrome (due to KCNQ1) |
rs199472754 |
NM_181798.1(KCNQ1):c.583A>G (p.Thr195Ala) |
| Long QT syndrome (due to KCNQ1) |
rs199472755 |
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) |
| Long QT syndrome (due to KCNQ1) |
rs199472756 |
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199472758 |
NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe) |
| Long QT syndrome (due to KCNQ1) |
rs199472760 |
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) |
| Long QT syndrome (due to KCNQ1) |
rs199472763 |
NM_181798.1(KCNQ1):c.650C>T (p.Ala217Val) |
| Long QT syndrome (due to KCNQ1) |
rs199472765 |
NM_181798.1(KCNQ1):c.665C>G (p.Ser222Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199472768 |
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199472771 |
NM_181798.1(KCNQ1):c.759G>T (p.Arg253Ser) |
| Long QT syndrome (due to KCNQ1) |
rs199472776 |
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199472790 |
NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly) |
| Long QT syndrome (due to KCNQ1) |
rs199472795 |
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199472800 |
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) |
| Long QT syndrome (due to KCNQ1) |
rs199472801 |
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) |
| Long QT syndrome (due to KCNQ1) |
rs199472804 |
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) |
| Long QT syndrome (due to KCNQ1) |
rs199472805 |
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) |
| Long QT syndrome (due to KCNQ1) |
rs199472807 |
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199472815 |
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) |
| Long QT syndrome (due to KCNH2) |
rs199472836 |
NM_172056.2(KCNH2):c.128A>G (p.Tyr43Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472884 |
NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) |
| Long QT syndrome (due to KCNH2) |
rs199472911 |
NM_172056.2(KCNH2):c.1478A>G (p.Tyr493Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472912 |
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) |
| Long QT syndrome (due to KCNH2) |
rs199472916 |
NM_172056.2(KCNH2):c.1600C>T (p.Arg534Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472918 |
NM_172056.2(KCNH2):c.1655T>C (p.Leu552Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472921 |
NM_172056.2(KCNH2):c.1681G>A (p.Ala561Thr) |
| Long QT syndrome (due to KCNH2) |
rs199472922 |
NM_172056.2(KCNH2):c.1685A>G (p.His562Arg) |
| Long QT syndrome (due to KCNH2) |
rs199472926 |
NM_172056.2(KCNH2):c.1704G>C (p.Trp568Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472934 |
NM_172056.2(KCNH2):c.1790A>G (p.Tyr597Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472936 |
NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472941 |
NM_172056.2(KCNH2):c.1825G>A (p.Asp609Asn) |
| Long QT syndrome (due to KCNH2) |
rs199472944 |
NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val) |
| Long QT syndrome (due to KCNH2) |
rs199472946 |
NM_172056.2(KCNH2):c.1847A>G (p.Tyr616Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472951 |
NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) |
| Long QT syndrome (due to KCNH2) |
rs199472957 |
NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472958 |
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) |
| Long QT syndrome (due to KCNH2) |
rs199472961 |
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472978 |
NM_172056.2(KCNH2):c.1969G>A (p.Gly657Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472983 |
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) |
| Long QT syndrome (due to KCNH2) |
rs199472986 |
NM_172056.2(KCNH2):c.2162C>T (p.Pro721Leu) |
| Long QT syndrome (due to KCNH2) |
rs199472990 |
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) |
| Long QT syndrome (due to KCNH2) |
rs199472997 |
NM_172056.2(KCNH2):c.2362G>A (p.Glu788Lys) |
| Long QT syndrome (due to KCNH2) |
rs199473004 |
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) |
| Long QT syndrome (due to KCNH2) |
rs199473005 |
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) |
| Long QT syndrome (due to KCNH2) |
rs199473012 |
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) |
| Long QT syndrome (due to KCNH2) |
rs199473039 |
NM_172056.2(KCNH2):c.1881C>A (p.Phe627Leu) |
| Long QT syndrome (due to SCN5A) |
rs199473124 |
NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) |
| Long QT syndrome (due to SCN5A) |
rs199473225 |
NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) |
| Long QT syndrome (due to SCN5A) |
rs199473293 |
NM_001160160.2(SCN5A):c.4900G>A (p.Val1634Ile) |
| Long QT syndrome (due to KCNE1) |
rs199473362 |
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199473394 |
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) |
| Long QT syndrome (due to KCNQ1) |
rs199473398 |
NM_181798.1(KCNQ1):c.175G>C (p.Gly59Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199473399 |
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) |
| Long QT syndrome (due to KCNQ1) |
rs199473410 |
NM_181798.1(KCNQ1):c.716G>A (p.Arg239Gln) |
| Long QT syndrome (due to KCNQ1) |
rs199473411 |
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) |
| Long QT syndrome (due to KCNH2) |
rs199473413 |
NM_172056.2(KCNH2):c.172G>A (p.Glu58Lys) |
| Long QT syndrome (due to KCNH2) |
rs199473419 |
NM_172056.2(KCNH2):c.209A>G (p.His70Arg) |
| Long QT syndrome (due to KCNH2) |
rs199473420 |
NM_172056.2(KCNH2):c.211G>C (p.Gly71Arg) |
| Long QT syndrome (due to KCNH2) |
rs199473421 |
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) |
| Long QT syndrome (due to KCNH2) |
rs199473428 |
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) |
| Long QT syndrome (due to KCNQ1) |
rs199473451 |
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) |
| Long QT syndrome (due to KCNQ1) |
rs199473456 |
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) |
| Long QT syndrome (due to KCNQ1) |
rs199473457 |
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) |
| Long QT syndrome (due to KCNQ1) |
rs199473460 |
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) |
| Long QT syndrome (due to KCNQ1) |
rs199473471 |
NM_181798.1(KCNQ1):c.652G>A (p.Gly218Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199473471 |
NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199473479 |
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) |
| Long QT syndrome (due to KCNH2) |
rs199473487 |
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) |
| Long QT syndrome (due to KCNH2) |
rs199473522 |
NM_172056.2(KCNH2):c.1810G>A (p.Gly604Ser) |
| Long QT syndrome (due to KCNH2) |
rs199473524 |
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) |
| Long QT syndrome (due to KCNH2) |
rs199473538 |
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199473662 |
NM_181798.1(KCNQ1):c.187C>T (p.Arg63Trp) |
| Long QT syndrome (due to RYR2) |
rs200450676 |
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) |
| Long QT syndrome (due to KCNH2) |
rs28928905 |
NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) |
| Long QT syndrome (due to CAV3) |
rs28936686 |
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) |
| Long QT syndrome (due to KCNQ1) |
rs397508068 |
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) |
| Long QT syndrome (due to KCNQ1) |
rs397508070 |
NM_181798.1(KCNQ1):c.651+1G>A |
| Long QT syndrome (due to KCNQ1) |
rs397508072 |
NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508075 |
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508083 |
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508091 |
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508097 |
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508104 |
NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508104 |
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508110 |
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508111 |
NM_181798.1(KCNQ1):c.96+5G>A |
| Long QT syndrome (due to KCNQ1) |
rs397508112 |
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508118 |
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508120 |
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508122 |
NM_181798.1(KCNQ1):c.302+5G>A |
| Long QT syndrome (due to KCNQ1) |
rs397508125 |
NM_181798.1(KCNQ1):c.415del (p.Leu139fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508127 |
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) |
| Long QT syndrome (due to KCNQ1) |
rs397508129 |
NM_181798.1(KCNQ1):c.481_499del (p.Val161fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508130 |
NM_181798.1(KCNQ1):c.540+1G>T |
| Long QT syndrome (due to KCNQ1) |
rs397508134 |
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) |
| Long QT syndrome (due to CACNA1C) |
rs587782933 |
NM_000719.7(CACNA1C):c.1114-316G>A |
| Long QT syndrome (due to SCN5A) |
rs72549410 |
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) |
| Long QT syndrome (due to KCNH2) |
rs730880116 |
NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter) |
| Long QT syndrome (due to KCNE1) |
rs74315445 |
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) |
| Long QT syndrome (due to KCNQ1) |
rs74462309 |
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) |
| Long QT syndrome (due to KCNH2) |
rs748706373 |
NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs) |
| Long QT syndrome (due to KCNH2) |
rs754921704 |
NM_172056.2(KCNH2):c.156C>A (p.Cys52Ter) |
| Long QT syndrome (due to KCNQ1) |
rs762814879 |
NM_181798.1(KCNQ1):c.96+1G>A |
| Long QT syndrome (due to KCNQ1) |
rs765169367 |
NM_181798.1(KCNQ1):c.1402del (p.Arg467_Val468insTer) |
| Long QT syndrome (due to KCNH2) |
rs770047651 |
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) |
| Long QT syndrome (due to KCNH2) |
rs773724817 |
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) |
| Long QT syndrome (due to KCNQ1) |
rs775479779 |
NM_181798.1(KCNQ1):c.261C>A (p.Cys87Ter) |
| Long QT syndrome (due to KCNQ1) |
rs775537394 |
NM_181798.1(KCNQ1):c.1013-1G>T |
| Long QT syndrome (due to ANK2) |
rs786205420 |
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) |
| Long QT syndrome (due to SNTA1) |
rs786205426 |
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) |
| Long QT syndrome (due to CACNA1C) |
rs786205748 |
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) |
| Long QT syndrome (due to CACNA1C) |
rs786205753 |
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) |
| Long QT syndrome (due to KCNH2) |
rs794728364 |
NM_172056.2(KCNH2):c.1096C>T (p.Arg366Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728366 |
NM_172056.2(KCNH2):c.1193G>A (p.Trp398Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728380 |
NM_172056.2(KCNH2):c.1945+6T>C |
| Long QT syndrome (due to KCNH2) |
rs794728401 |
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728403 |
NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728406 |
NM_172056.2(KCNH2):c.77-1G>A |
| Long QT syndrome (due to KCNH2) |
rs794728440 |
NM_172056.2(KCNH2):c.1701del (p.Trp568fs) |
| Long QT syndrome (due to KCNH2) |
rs794728442 |
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) |
| Long QT syndrome (due to KCNH2) |
rs794728458 |
NM_172057.2(KCNH2):c.1765dup (p.Glu589fs) |
| Long QT syndrome (due to KCNH2) |
rs794728470 |
NM_172057.2(KCNH2):c.2085_2092dup (p.Val698fs) |
| Long QT syndrome (due to KCNH2) |
rs794728475 |
NM_172056.2(KCNH2):c.81dup (p.Lys28Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728478 |
NM_172056.2(KCNH2):c.1129-1G>A |
| Long QT syndrome (due to KCNH2) |
rs794728488 |
NM_172056.2(KCNH2):c.1946-2A>C |
| Long QT syndrome (due to KCNH2) |
rs794728508 |
NM_172056.2(KCNH2):c.154del (p.Cys52fs) |
| Long QT syndrome (due to KCNQ1) |
rs794728524 |
NM_181798.1(KCNQ1):c.668G>T (p.Gly223Val) |
| Long QT syndrome (due to KCNQ1) |
rs794728527 |
NM_181798.1(KCNQ1):c.1002T>A (p.Tyr334Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728531 |
NM_181798.1(KCNQ1):c.1304+1G>A |
| Long QT syndrome (due to KCNQ1) |
rs794728537 |
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728540 |
NM_181798.1(KCNQ1):c.1420C>T (p.Gln474Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728547 |
NM_181798.1(KCNQ1):c.170dup (p.Tyr57Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728558 |
NM_181798.1(KCNQ1):c.1065del (p.Asn356fs) |
| Long QT syndrome (due to KCNQ1) |
rs794728562 |
NM_000218.2(KCNQ1):c.1686delG |
| Long QT syndrome (due to KCNQ1) |
rs794728571 |
NM_181798.1(KCNQ1):c.700C>T (p.Gln234Ter) |
| Long QT syndrome (due to KCNQ1) |
rs796052166 |
NM_181798.1(KCNQ1):c.302+2T>G |
| Long QT syndrome (due to KCNH2) |
rs796052196 |
NM_172056.2(KCNH2):c.307+2T>A |
| Long QT syndrome (due to CACNA1C) |
rs79891110 |
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) |
| Long QT syndrome (due to KCNH2) |
rs878853771 |
NM_172056.2(KCNH2):c.1479C>A (p.Tyr493Ter) |
| Long QT syndrome (due to KCNQ1) |
rs878854348 |
NM_181798.1(KCNQ1):c.1352-1G>C |
| Long QT syndrome (due to KCNQ1) |
rs878854350 |
NM_181798.1(KCNQ1):c.1305-2A>G |
| Long QT syndrome (due to KCNH2) |
rs886039385 |
NM_172056.2(KCNH2):c.2145+1G>A |
| Long QT syndrome (due to KCNH2) |
rs9333649 |
NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs111426349 |
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs111854391 |
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918710 |
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918711 |
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918712 |
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918713 |
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) |
| Loeys-Dietz syndrome 1 (due to TGFBR2) |
rs886039551 |
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893810 |
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893813 |
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893815 |
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893819 |
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs113605875 |
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) |
| Loeys-Dietz syndrome (due to FBN1) |
rs137854478 |
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922660 |
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922664 |
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922665 |
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs397516840 |
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) |
| Loeys-Dietz syndrome (due to COL3A1) |
rs587779715 |
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) |
| Loeys-Dietz syndrome (due to SMAD3) |
rs587782977 |
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs587782979 |
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs727503475 |
NM_003242.6(TGFBR2):c.1524+1G>A |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs727503476 |
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs727504292 |
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) |
| Loeys-Dietz syndrome (due to SMAD3) |
rs730880215 |
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs730880223 |
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs730880224 |
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs760079636 |
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs79375991 |
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs863223829 |
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs863223852 |
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs863223857 |
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs869025537 |
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs886038919 |
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) |
| Familial hypertrophic cardiomyopathy 9 (due to TTN|TTN-AS1) |
rs574660186 |
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) |
| Familial hypertrophic cardiomyopathy 9 (due to TTN|TTN-AS1) |
rs794729340 |
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) |
| Familial hypertrophic cardiomyopathy 8 (due to MYL3) |
rs104893748 |
NM_000258.2(MYL3):c.445A>G (p.Met149Val) |
| Familial hypertrophic cardiomyopathy 8 (due to MYL3) |
rs199474703 |
NM_000258.3(MYL3):c.281G>A (p.Arg94His) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894724 |
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894725 |
NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894727 |
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894728 |
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894730 |
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs267607128 |
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs368861241 |
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516349 |
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516353 |
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516354 |
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516357 |
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs727504242 |
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs121908987 |
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs121908989 |
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs267606977 |
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs267606978 |
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs28938173 |
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs587776643 |
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs1060499673 |
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs1114167419 |
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs111683277 |
NM_000256.3(MYBPC3):c.3190+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs112738974 |
NM_000256.3(MYBPC3):c.2308+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs121909374 |
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs121909377 |
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs193922384 |
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs193922386 |
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs200411226 |
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs2856655 |
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs368765949 |
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs373746463 |
NM_000256.3(MYBPC3):c.3330+5G>C |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs376395543 |
NM_000256.3(MYBPC3):c.26-2A>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs387906397 |
NM_000256.3(MYBPC3):c.3330+2T>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs387907267 |
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397514752 |
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515889 |
NM_000256.3(MYBPC3):c.1168del (p.His390fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515897 |
NM_000256.3(MYBPC3):c.1351+2T>C |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515907 |
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515925 |
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515926 |
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515937 |
NM_000256.3(MYBPC3):c.1928-2A>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515963 |
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515973 |
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515974 |
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515990 |
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515992 |
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516005 |
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516006 |
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516020 |
NM_000256.3(MYBPC3):c.3490+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516037 |
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516042 |
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516059 |
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516068 |
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516074 |
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516080 |
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516082 |
NM_000256.3(MYBPC3):c.927-2A>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516083 |
NM_000256.3(MYBPC3):c.927-9G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs587776699 |
NM_000256.3(MYBPC3):c.1224-19G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs587776700 |
NM_000256.3(MYBPC3):c.906-1G>C |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs587782958 |
NM_000256.3(MYBPC3):c.3190+5G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727503166 |
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727503188 |
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727503203 |
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727503204 |
NM_000256.3(MYBPC3):c.1351+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727503212 |
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727504366 |
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs730880341 |
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs730880684 |
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs786204329 |
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863224483 |
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863224899 |
NM_000256.3(MYBPC3):c.2414-1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225105 |
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225106 |
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225107 |
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225109 |
NM_000256.3(MYBPC3):c.306del (p.Met103fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225111 |
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs864622197 |
NM_000256.3(MYBPC3):c.906-36G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs886037900 |
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs886037902 |
NM_000256.3(MYBPC3):c.927_928delGG |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs886041030 |
NM_000256.3(MYBPC3):c.2309-26A>G |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs104894502 |
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs104894503 |
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs104894504 |
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs199476315 |
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs199476317 |
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) |
| Familial hypertrophic cardiomyopathy 20 (due to NEXN) |
rs387907079 |
NM_144573.3(NEXN):c.391C>G (p.Gln131Glu) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs111377893 |
NM_001276345.2(TNNT2):c.851+1G>C |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs121964856 |
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs121964858 |
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516455 |
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516456 |
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516457 |
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516457 |
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516463 |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516470 |
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516471 |
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs45578238 |
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs727503512 |
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs727503513 |
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs727504246 |
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs727504247 |
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs730881116 |
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs74315379 |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs74315380 |
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs863225120 |
NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) |
| Familial hypertrophic cardiomyopathy 18 (due to PLN|CEP85L) |
rs111033560 |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
| Familial hypertrophic cardiomyopathy 15 (due to VCL) |
rs863225121 |
NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) |
| Familial hypertrophic cardiomyopathy 13 (due to TNNC1) |
rs267607125 |
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) |
| Familial hypertrophic cardiomyopathy 11 (due to ACTC1|GJD2-DT) |
rs121912675 |
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) |
| Familial hypertrophic cardiomyopathy 11 (due to GJD2-DT|ACTC1) |
rs193922680 |
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) |
| Familial hypertrophic cardiomyopathy 11 (due to ACTC1|GJD2-DT) |
rs267606628 |
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) |
| Familial hypertrophic cardiomyopathy 11 (due to ACTC1|GJD2-DT) |
rs267606629 |
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) |
| Familial hypertrophic cardiomyopathy 11 (due to GJD2-DT|ACTC1) |
rs767734253 |
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2) |
rs104894369 |
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2|LOC114827850) |
rs104894370 |
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2) |
rs121913658 |
NM_000432.3(MYL2):c.283C>G (p.Pro95Ala) |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2) |
rs587782965 |
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) |
| Familial hypertrophic cardiomyopathy 1 (due to LMNA) |
rs1057515421 |
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs112738974 |
NM_000256.3(MYBPC3):c.2308+1G>A |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs121909374 |
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913624 |
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913625 |
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913626 |
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913627 |
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913628 |
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913629 |
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913630 |
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913631 |
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913632 |
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913633 |
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913634 |
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913636 |
NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913637 |
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913638 |
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913639 |
NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913641 |
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MHRT|MYH7) |
rs121913650 |
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913654 |
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs138049878 |
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7|MHRT) |
rs193922390 |
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs267606908 |
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs267606911 |
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs3218713 |
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs3218714 |
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs3218716 |
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs36211715 |
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs371898076 |
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs397515905 |
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs397515970 |
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs397515992 |
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516101 |
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516127 |
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516155 |
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516157 |
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516161 |
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516209 |
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516264 |
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516265 |
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516269 |
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs45611033 |
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727503260 |
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727503261 |
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727504238 |
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727504299 |
NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727504310 |
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs730880649 |
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs730880850 |
NM_000257.4(MYH7):c.732+1G>A |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs730880876 |
NM_000257.4(MYH7):c.1479G>C (p.Met493Ile) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7|MHRT) |
rs767148171 |
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to RAF1) |
rs80338797 |
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863224900 |
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225097 |
NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225098 |
NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225099 |
NM_000257.4(MYH7):c.2542_2544del (p.Glu848del) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225100 |
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225101 |
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225102 |
NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225103 |
NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH6) |
rs863225269 |
NM_002471.3(MYH6):c.3193dup (p.Gln1065fs) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs863225271 |
NM_000256.3(MYBPC3):c.1359del (p.Val454fs) |
| Familial hypercholesterolemia 4 (due to LDLRAP1) |
rs750383461 |
NM_015627.3(LDLRAP1):c.431dup (p.His144fs) |
| Familial hypercholesterolemia 3 (due to PCSK9) |
rs1057519691 |
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) |
| Familial hypercholesterolemia 3 (due to PCSK9) |
rs28942112 |
NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs281865425 |
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs730880052 |
NM_000384.3(APOB):c.10187C>A (p.Ala3396Asp) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs766243954 |
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs878853970 |
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs878853973 |
NM_000384.3(APOB):c.9523del (p.Ala3175fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516127 |
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516128 |
NM_000527.4(LDLR):c.1408A>G (p.Ser470Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516130 |
NM_000527.4(LDLR):c.905del (p.Cys302fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516133 |
NM_001195800.2(LDLR):c.314-2116dup |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516134 |
NM_001195798.2(LDLR):c.1878del (p.Ala627fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516135 |
NM_001195800.2(LDLR):c.314-2019del |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs1057519647 |
NM_000527.4(LDLR):c.-168A>G |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs1057519648 |
NM_000527.4(LDLR):c.-155_-150del |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs1057519649 |
NM_000527.4(LDLR):c.-124dup |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs1057519650 |
NM_000527.4(LDLR):c.-99A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519653 |
NM_000527.4(LDLR):c.244_250dup (p.Pro84fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519654 |
NM_000527.4(LDLR):c.327C>A (p.Cys109Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519655 |
NM_000527.4(LDLR):c.610T>G (p.Cys204Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519663 |
NM_000527.4(LDLR):c.783C>A (p.Cys261Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519664 |
NM_000527.4(LDLR):c.924A>T (p.Glu308Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519665 |
NM_000527.4(LDLR):c.940_940+14del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519668 |
NM_000527.4(LDLR):c.1205T>C (p.Phe402Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519669 |
NM_000527.4(LDLR):c.1256A>G (p.Tyr419Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519670 |
NM_000527.4(LDLR):c.1315A>T (p.Asn439Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519672 |
NM_000527.4(LDLR):c.1478del (p.Ser493fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519674 |
NM_000527.4(LDLR):c.1571_1572del (p.Val524fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519675 |
NM_000527.4(LDLR):c.1738T>C (p.Ser580Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519677 |
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519679 |
NM_000527.4(LDLR):c.1980_1983del (p.Pro661fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519682 |
NM_000527.4(LDLR):c.2078dup (p.Phe694fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519683 |
NM_000527.4(LDLR):c.2085del (p.Cys696fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519685 |
NM_000527.4(LDLR):c.2134dup (p.Leu712fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060499922 |
NM_000527.5(LDLR):c.1184_1185del (p.Val395fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060499923 |
NM_000527.4(LDLR):c.1204_1205del (p.Phe402fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060500987 |
NM_000527.4(LDLR):c.1272del (p.Asn425fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060500988 |
NM_001195803.2(LDLR):c.1606+150del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1064792905 |
NM_001195800.2(LDLR):c.314-1803_314-1792del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs112366278 |
NM_000527.5(LDLR):c.941-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692189 |
NM_000527.4(LDLR):c.116G>T (p.Cys39Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692190 |
NM_000527.4(LDLR):c.190+5G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692191 |
NM_000527.4(LDLR):c.251_252insCATTCTG (p.Gln85fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692192 |
NM_000527.4(LDLR):c.318_336del (p.Lys107fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692194 |
NM_000527.4(LDLR):c.528C>T (p.Gly176=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692196 |
NM_000527.4(LDLR):c.613C>G (p.Leu205Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692197 |
NM_000527.4(LDLR):c.666_688del (p.Cys222_Asn230delinsTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692200 |
NM_000527.4(LDLR):c.805G>A (p.Gly269Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692202 |
NM_000527.4(LDLR):c.882_883del (p.Lys294fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692203 |
NM_000527.4(LDLR):c.1081C>T (p.Pro361Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692204 |
NM_000527.4(LDLR):c.1114G>T (p.Glu372Ter) |
| Familial hypercholesterolemia 1 (due to LDLR|MIR6886) |
rs1131692206 |
NM_000527.4(LDLR):c.1359-25A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692207 |
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692208 |
NM_000527.4(LDLR):c.1427C>T (p.Pro476Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692209 |
NM_000527.4(LDLR):c.1456del (p.Ser486fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692210 |
NM_000527.4(LDLR):c.1530del (p.Leu511fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692211 |
NM_000527.4(LDLR):c.1566del (p.Ile522fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692213 |
NM_000527.4(LDLR):c.1678A>T (p.Ile560Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692216 |
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692220 |
NM_000527.4(LDLR):c.2044C>T (p.Leu682Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692221 |
NM_000527.4(LDLR):c.2061del (p.Asn688fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692223 |
NM_000527.4(LDLR):c.2270del (p.Pro757fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692224 |
NM_000527.4(LDLR):c.2323_2352del (p.Val775_Pro784del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692225 |
NM_000527.4(LDLR):c.2393_2409del (p.Leu798fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692226 |
NM_000527.4(LDLR):c.2422C>G (p.Leu808Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs11547917 |
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908025 |
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908027 |
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908028 |
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908030 |
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908032 |
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908033 |
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908034 |
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908036 |
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908037 |
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908040 |
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908041 |
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908042 |
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908043 |
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908044 |
NM_000527.5(LDLR):c.621C>T (p.Gly207=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs13306512 |
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) |
| Familial hypercholesterolemia 1 (due to PCSK9) |
rs137852912 |
NM_174936.3(PCSK9):c.1120G>C (p.Asp374His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs137853965 |
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs137853966 |
NM_001195800.2(LDLR):c.314-1833del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs137943601 |
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs138947766 |
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) |
| Familial hypercholesterolemia 1 (due to LDLR|MIR6886) |
rs139617694 |
NM_000527.5(LDLR):c.1359-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs139624145 |
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs140807148 |
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs144172724 |
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs145787161 |
NM_000527.5(LDLR):c.2140+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922566 |
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922567 |
NM_000527.5(LDLR):c.1358+2T>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922569 |
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922571 |
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs199570811 |
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs199774121 |
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200143634 |
NM_000527.5(LDLR):c.1367T>A (p.Leu456His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200238879 |
NM_000527.4(LDLR):c.694+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200727689 |
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200793488 |
NM_000527.4(LDLR):c.2230C>T (p.Arg744Ter) |
| Familial hypercholesterolemia 1 (due to LDLR-AS1|LDLR) |
rs201016593 |
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs201637900 |
NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs201967266 |
NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs2569548 |
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs267607213 |
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs28942079 |
NM_000527.4(LDLR):c.1291G>C (p.Ala431Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs28942082 |
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs28942083 |
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs370777955 |
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs372828849 |
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs374045590 |
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs376459828 |
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs377271627 |
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906301 |
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906302 |
NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906303 |
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906304 |
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906305 |
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906306 |
NM_000527.4(LDLR):c.664_681del (p.Cys222_Asp227del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906306 |
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs387906307 |
NM_000527.4(LDLR):c.-138delT |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs537484504 |
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs544203837 |
NM_000527.5(LDLR):c.191-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs551747280 |
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs552422789 |
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs563390335 |
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs587776886 |
NM_000527.5(LDLR):c.2140+86C>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs72658864 |
NM_000527.4(LDLR):c.1733T>C (p.Val578Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730880130 |
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730880131 |
NM_000527.4(LDLR):c.1186+1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882082 |
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882085 |
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882086 |
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882089 |
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882094 |
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882103 |
NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882109 |
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs745776977 |
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs746091400 |
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs746959386 |
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs746982741 |
NM_000527.5(LDLR):c.1097A>C (p.Gln366Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs748131256 |
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs748554592 |
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs748672083 |
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs749780672 |
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs751122998 |
NM_001195798.2(LDLR):c.820del (p.Thr274fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs751603969 |
NM_000527.5(LDLR):c.1487G>T (p.Gly496Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs753248521 |
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs753707206 |
NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs754676104 |
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs755449669 |
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs755667663 |
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs755799528 |
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs756039188 |
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs756613387 |
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs757252110 |
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs758194385 |
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs758927662 |
NM_000527.5(LDLR):c.225T>G (p.Cys75Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs759109699 |
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs759858813 |
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs760436036 |
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs763625913 |
NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs763998635 |
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764042910 |
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764526789 |
NM_000527.5(LDLR):c.762G>T (p.Gln254His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764550980 |
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764797225 |
NM_001195799.2(LDLR):c.190+2431del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs766094434 |
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs766709484 |
NM_000527.4(LDLR):c.300C>A (p.Asp100Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs767790696 |
NM_000527.5(LDLR):c.2390-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs768430352 |
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs769318035 |
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) |
| Familial hypercholesterolemia 1 (due to APOB) |
rs771015234 |
NM_000384.3(APOB):c.13168G>C (p.Asp4390His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs771019366 |
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs773064328 |
NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs773328511 |
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs774016801 |
NM_000527.4(LDLR):c.191T>A (p.Leu64Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs774439908 |
NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs775092314 |
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs775924858 |
NM_000527.5(LDLR):c.1358+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs776217028 |
NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs776421777 |
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777321035 |
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777326720 |
NM_000527.4(LDLR):c.520G>T (p.Glu174Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777640882 |
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs779913921 |
NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) |
| Familial hypercholesterolemia 1 (due to STAP1) |
rs793888522 |
NM_012108.4(STAP1):c.139A>G (p.Thr47Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs794728585 |
NM_000527.4(LDLR):c.178C>T (p.Gln60Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869025454 |
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869320648 |
NM_000527.4(LDLR):c.355G>A (p.Gly119Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869320650 |
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869320652 |
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs875989888 |
NM_001195798.2(LDLR):c.6del (p.Trp4fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989890 |
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989891 |
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989892 |
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989893 |
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989894 |
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989895 |
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989896 |
NM_000527.5(LDLR):c.313_313+1del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989897 |
NM_000527.5(LDLR):c.313+2dup |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989898 |
NM_000527.5(LDLR):c.318del (p.Lys107fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989898 |
NM_000527.5(LDLR):c.318dup (p.Lys107fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989899 |
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989901 |
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989902 |
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989902 |
NM_000527.5(LDLR):c.533A>T (p.Asp178Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989903 |
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989906 |
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989907 |
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989908 |
NM_000527.4(LDLR):c.908_926dup (p.Ile310_Lys311insGlyLeuValArgTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989909 |
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989911 |
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989912 |
NM_000527.5(LDLR):c.940+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989915 |
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989917 |
NM_000527.4(LDLR):c.1162del (p.His388fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989918 |
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989919 |
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989921 |
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989922 |
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989925 |
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989926 |
NM_000527.5(LDLR):c.1705+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989928 |
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989929 |
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989930 |
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989932 |
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989934 |
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989935 |
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989938 |
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989941 |
NM_001195798.2(LDLR):c.2292del (p.Ile764fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989943 |
NM_000527.4(LDLR):c.2344A>T (p.Lys782Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854025 |
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854026 |
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854028 |
NM_001195800.2(LDLR):c.314-2107del |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254363 |
NM_000527.4(LDLR):c.-185_-183del |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254371 |
NM_000527.4(LDLR):c.-139C>G |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254374 |
NM_000527.4(LDLR):c.-136C>T |
| Familial hypercholesterolemia 1 (due to LDLR-AS1|LDLR) |
rs879254382 |
NM_000527.5(LDLR):c.1A>C (p.Met1Leu) |
| Familial hypercholesterolemia 1 (due to LDLR-AS1|LDLR) |
rs879254383 |
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) |
| Familial hypercholesterolemia 1 (due to LDLR-AS1|LDLR) |
rs879254384 |
NM_000527.4(LDLR):c.9del (p.Trp4fs) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254385 |
NM_000527.5(LDLR):c.28_38del (p.Trp10fs) |
| Familial hypercholesterolemia 1 (due to LDLR-AS1|LDLR) |
rs879254388 |
NM_000527.4(LDLR):c.41del (p.Leu14fs) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254388 |
NM_000527.5(LDLR):c.41dup (p.Leu14fs) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254390 |
NM_000527.5(LDLR):c.44T>A (p.Leu15His) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254393 |
NM_000527.4(LDLR):c.64del (p.Ala22fs) |
| Familial hypercholesterolemia 1 (due to LDLR|LDLR-AS1) |
rs879254394 |
NM_000527.5(LDLR):c.67+2T>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254396 |
NM_000527.5(LDLR):c.68-2A>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254397 |
NM_000527.5(LDLR):c.68-1G>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254399 |
NM_000527.4(LDLR):c.76del (p.Arg26fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254400 |
NM_000527.5(LDLR):c.77_78del (p.Arg26fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254401 |
NM_000527.5(LDLR):c.85A>T (p.Arg29Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254403 |
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254404 |
NM_000527.4(LDLR):c.99del (p.Gln33fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254405 |
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254406 |
NM_000527.5(LDLR):c.101G>C (p.Cys34Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254407 |
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254408 |
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254410 |
NM_000527.5(LDLR):c.114dup (p.Cys39fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254412 |
NM_000527.4(LDLR):c.117del (p.Lys38_Cys39insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254413 |
NM_000527.4(LDLR):c.118del (p.Ile40fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254414 |
NM_000527.4(LDLR):c.132_133dup (p.Val45fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254415 |
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254418 |
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254419 |
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254422 |
NM_000527.4(LDLR):c.172del (p.Glu58fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254424 |
NM_000527.5(LDLR):c.173A>G (p.Glu58Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254425 |
NM_000527.5(LDLR):c.185_186insT (p.Cys63fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254426 |
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254428 |
NM_000527.5(LDLR):c.190+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254430 |
NM_000527.5(LDLR):c.190+2T>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254433 |
NM_000527.5(LDLR):c.191-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254436 |
NM_000527.5(LDLR):c.199dup (p.Thr67fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254437 |
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254438 |
NM_001195799.2(LDLR):c.190+2342del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254439 |
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254440 |
NM_000527.5(LDLR):c.230dup (p.Arg78fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254440 |
NM_001195799.2(LDLR):c.190+2358del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254443 |
NM_000527.5(LDLR):c.236dup (p.Asn80fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254446 |
NM_001195799.2(LDLR):c.190+2372del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254448 |
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254452 |
NM_000527.5(LDLR):c.260G>A (p.Trp87Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254456 |
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254457 |
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254460 |
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254464 |
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254465 |
NM_000527.5(LDLR):c.312T>G (p.Cys104Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254467 |
NM_000527.5(LDLR):c.313+5G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254470 |
NM_000527.5(LDLR):c.314-2A>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254471 |
NM_000527.5(LDLR):c.314-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254472 |
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254475 |
NM_000527.5(LDLR):c.320dup (p.Thr108fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254479 |
NM_000527.5(LDLR):c.335_344del (p.Asp112fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254481 |
NM_000527.5(LDLR):c.339dup (p.Phe114fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254482 |
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254483 |
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254484 |
NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254485 |
NM_000527.5(LDLR):c.347G>T (p.Cys116Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254488 |
NM_001195800.2(LDLR):c.314-2133del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254489 |
NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254491 |
NM_001195800.2(LDLR):c.314-2129del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254492 |
NM_000527.5(LDLR):c.361T>A (p.Cys121Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254493 |
NM_000527.5(LDLR):c.364A>T (p.Ile122Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254494 |
NM_000527.5(LDLR):c.366dup (p.Ser123fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254496 |
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254497 |
NM_000527.5(LDLR):c.369_393del (p.Arg124fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254501 |
NM_000527.5(LDLR):c.376T>C (p.Phe126Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254502 |
NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254505 |
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254506 |
NM_000527.5(LDLR):c.383G>T (p.Cys128Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254509 |
NM_000527.5(LDLR):c.389C>G (p.Ser130Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254513 |
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254517 |
NM_000527.5(LDLR):c.415G>C (p.Asp139His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254518 |
NM_000527.5(LDLR):c.416A>T (p.Asp139Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254519 |
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254520 |
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254521 |
NM_000527.5(LDLR):c.424_430del (p.Ser142fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254522 |
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254523 |
NM_000527.5(LDLR):c.431_434dup (p.Leu146fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254525 |
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254526 |
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254528 |
NM_000527.5(LDLR):c.444T>G (p.Cys148Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254530 |
NM_000527.5(LDLR):c.450dup (p.Ala151fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254531 |
NM_000527.5(LDLR):c.451_453del (p.Ala151del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254532 |
NM_000527.5(LDLR):c.457T>G (p.Phe153Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254533 |
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254534 |
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254535 |
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254536 |
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254537 |
NM_000527.5(LDLR):c.466_484dup (p.Pro162fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254538 |
NM_001195800.2(LDLR):c.314-2014del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254540 |
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254542 |
NM_000527.5(LDLR):c.482_488del (p.Ile161fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254543 |
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254545 |
NM_000527.5(LDLR):c.493T>G (p.Trp165Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254546 |
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254547 |
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254548 |
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254550 |
NM_000527.5(LDLR):c.506A>T (p.Asn169Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254551 |
NM_000527.5(LDLR):c.508_509insC (p.Asp170fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254552 |
NM_000527.5(LDLR):c.513dup (p.Asp172fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254552 |
NM_001195800.2(LDLR):c.314-1973del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254554 |
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254555 |
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254556 |
NM_000527.5(LDLR):c.516_524dup (p.Cys173_Asp175dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254557 |
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254558 |
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254560 |
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254562 |
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254563 |
NM_000527.5(LDLR):c.527G>T (p.Gly176Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254564 |
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254565 |
NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254566 |
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254567 |
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254568 |
NM_000527.5(LDLR):c.536A>G (p.Glu179Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254569 |
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254570 |
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254571 |
NM_000527.5(LDLR):c.552T>G (p.Cys184Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254572 |
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254573 |
NM_000527.4(LDLR):c.557dup (p.Leu187fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254573 |
NM_001195800.2(LDLR):c.314-1929del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254574 |
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254575 |
NM_000527.5(LDLR):c.561_562del (p.Tyr188fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254575 |
NM_001195800.2(LDLR):c.314-1924del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254579 |
NM_000527.5(LDLR):c.578_584del (p.Asp193fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254580 |
NM_001195800.2(LDLR):c.314-1908del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254581 |
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254582 |
NM_000527.5(LDLR):c.583_589del (p.Ser195fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254584 |
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254588 |
NM_001195800.2(LDLR):c.314-1886del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254589 |
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254590 |
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254591 |
NM_000527.4(LDLR):c.609del (p.Cys204fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254592 |
NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254593 |
NM_000527.5(LDLR):c.616dup (p.Ser206fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254594 |
NM_000527.4(LDLR):c.617del (p.Ser206fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254595 |
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254596 |
NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254597 |
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254598 |
NM_000527.5(LDLR):c.623_644del (p.Glu208fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254600 |
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254601 |
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254602 |
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254605 |
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254606 |
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254607 |
NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Arg215_Cys216insHisProLeuSerTrp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254610 |
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254611 |
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254614 |
NM_000527.5(LDLR):c.649_650insT (p.Asp217fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254616 |
NM_000527.5(LDLR):c.655_657del (p.Gly219del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254618 |
NM_000527.4(LDLR):c.673_674insTGCAA (p.Lys225fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254623 |
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254625 |
NM_000527.5(LDLR):c.669_679dup (p.Asp227fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254627 |
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254630 |
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254632 |
NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254634 |
NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254635 |
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254636 |
NM_000527.5(LDLR):c.677C>G (p.Ser226Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254638 |
NM_000527.5(LDLR):c.680A>T (p.Asp227Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254639 |
NM_000527.5(LDLR):c.681_683del (p.Asp227del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254644 |
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254646 |
NM_000527.5(LDLR):c.694+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254647 |
NM_000527.4(LDLR):c.694+4dup |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254651 |
NM_000527.5(LDLR):c.695-6_698del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254652 |
NM_000527.4(LDLR):c.695-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254652 |
NM_000527.5(LDLR):c.695-1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254653 |
NM_000527.5(LDLR):c.705dup (p.Cys236fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254655 |
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254656 |
NM_000527.5(LDLR):c.708dup (p.Arg237fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254658 |
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254662 |
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254663 |
NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254663 |
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254664 |
NM_000527.5(LDLR):c.744C>A (p.Cys248Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254665 |
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254666 |
NM_000527.5(LDLR):c.752dup (p.Ser252fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254667 |
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254668 |
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254668 |
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254668 |
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254669 |
NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254670 |
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254671 |
NM_000527.5(LDLR):c.768C>G (p.Asp256Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254672 |
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254674 |
NM_000527.4(LDLR):c.781del (p.Cys261fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254675 |
NM_000527.5(LDLR):c.790_793del (p.Met264fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254682 |
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254683 |
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254684 |
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254685 |
NM_000527.5(LDLR):c.817+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254686 |
NM_000527.5(LDLR):c.817+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254688 |
NM_000527.5(LDLR):c.818-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254689 |
NM_000527.5(LDLR):c.820_827del (p.Thr274fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254693 |
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254699 |
NM_000527.5(LDLR):c.869T>G (p.Ile290Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254700 |
NM_000527.4(LDLR):c.874del (p.Leu292fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254701 |
NM_000527.5(LDLR):c.875dup (p.Asp293fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254702 |
NM_000527.4(LDLR):c.877del (p.Asp293fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254703 |
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254704 |
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254705 |
NM_000527.4(LDLR):c.884del (p.Val295fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254708 |
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254710 |
NM_000527.4(LDLR):c.890del (p.Asn297fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254711 |
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254713 |
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254717 |
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254720 |
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254721 |
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254725 |
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254727 |
NM_000527.4(LDLR):c.939_940+3del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254728 |
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254729 |
NM_000527.5(LDLR):c.940+1G>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254735 |
NM_000527.5(LDLR):c.941-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254736 |
NM_000527.5(LDLR):c.946_994del (p.Asn316fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254737 |
NM_000527.4(LDLR):c.951del (p.Glu317fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254738 |
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254740 |
NM_000527.5(LDLR):c.961_962del (p.Asn321fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254742 |
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254748 |
NM_000527.5(LDLR):c.980dup (p.His327fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254749 |
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254750 |
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254751 |
NM_001195798.2(LDLR):c.1008del (p.Gly335_Tyr336insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254753 |
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254755 |
NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254757 |
NM_000527.5(LDLR):c.1017dup (p.Cys340fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254760 |
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254761 |
NM_000527.4(LDLR):c.1031del (p.Phe344fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254762 |
NM_000527.5(LDLR):c.1034dup (p.Leu346fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254763 |
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254764 |
NM_000527.4(LDLR):c.1042del (p.Ala348fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254765 |
NM_000527.4(LDLR):c.1045del (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254765 |
NM_000527.5(LDLR):c.1045dup (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254767 |
NM_000527.4(LDLR):c.1046del (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254768 |
NM_000527.5(LDLR):c.1055_1062dup (p.Ile355fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254769 |
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254770 |
NM_000527.5(LDLR):c.1056_1060+3del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254771 |
NM_000527.5(LDLR):c.1060+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254771 |
NM_000527.5(LDLR):c.1060+1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254773 |
NM_000527.5(LDLR):c.1061-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254774 |
NM_000527.5(LDLR):c.1061-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254774 |
NM_000527.5(LDLR):c.1061-1G>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254777 |
NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254780 |
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254782 |
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254783 |
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254784 |
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254788 |
NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254789 |
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254791 |
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254792 |
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254793 |
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254794 |
NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254796 |
NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254800 |
NM_000527.5(LDLR):c.1124A>C (p.Tyr375Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254801 |
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254802 |
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254803 |
NM_000527.4(LDLR):c.1135T>G (p.Cys379Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254804 |
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254805 |
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254806 |
NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254807 |
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254809 |
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254811 |
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254812 |
NM_000527.4(LDLR):c.1173del (p.Cys392fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254814 |
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254815 |
NM_000527.4(LDLR):c.1178del (p.Lys393fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254816 |
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254817 |
NM_000527.4(LDLR):c.1182del (p.Val395fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254823 |
NM_000527.5(LDLR):c.1187-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254827 |
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254828 |
NM_000527.5(LDLR):c.1205dup (p.Phe403fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254831 |
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254832 |
NM_000527.4(LDLR):c.1208del (p.Phe403fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254833 |
NM_000527.4(LDLR):c.1209del (p.Phe403fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254835 |
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254837 |
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254838 |
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254840 |
NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254841 |
NM_000527.4(LDLR):c.1233del (p.Lys411_Met412insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254842 |
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254844 |
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254846 |
NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254847 |
NM_000527.4(LDLR):c.1255T>G (p.Tyr419Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254848 |
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254849 |
NM_000527.4:c.[829G>A;1268T>C] |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254849 |
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254854 |
NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254855 |
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254857 |
NM_000527.4(LDLR):c.1303del (p.Glu435fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254858 |
NM_000527.4(LDLR):c.1306del (p.Val436fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254859 |
NM_000527.5(LDLR):c.1309dup (p.Ala437fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254862 |
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254863 |
NM_000527.5(LDLR):c.1324T>A (p.Tyr442Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254864 |
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254865 |
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254866 |
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254867 |
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254868 |
NM_000527.4(LDLR):c.1336del (p.Leu446fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254869 |
NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254870 |
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254872 |
NM_000527.4(LDLR):c.1343del (p.Gln448fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254873 |
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254879 |
NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254880 |
NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254881 |
NM_000527.4(LDLR):c.1363del (p.Gln455fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254882 |
NM_000527.4(LDLR):c.1365del (p.Gln455fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254883 |
NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254884 |
NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254885 |
NM_000527.5(LDLR):c.1377_1380del (p.His460fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254888 |
NM_001195798.2(LDLR):c.1392del (p.Tyr465fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254892 |
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254893 |
NM_000527.5(LDLR):c.1417_1431del (p.Ile473_Asp477del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254897 |
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254898 |
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254900 |
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254901 |
NM_000527.5(LDLR):c.1438G>C (p.Ala480Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254902 |
NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254904 |
NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254905 |
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254906 |
NM_000527.5(LDLR):c.1454A>G (p.His485Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254907 |
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254914 |
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254915 |
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254916 |
NM_000527.5(LDLR):c.1471dup (p.Thr491fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254917 |
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254918 |
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254923 |
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254926 |
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254927 |
NM_000527.5(LDLR):c.1516_1562del (p.Val506fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254929 |
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254931 |
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254932 |
NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254939 |
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254941 |
NM_000527.5(LDLR):c.1567_1575del (p.Val523_Asp525del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254943 |
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254944 |
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254945 |
NM_000527.5(LDLR):c.1586+2T>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254947 |
NM_000527.5(LDLR):c.1587-2A>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254948 |
NM_000527.5(LDLR):c.1587-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254949 |
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254954 |
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254959 |
NM_000527.4(LDLR):c.1610del (p.Gly537fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254962 |
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254964 |
NM_000527.4(LDLR):c.1632del (p.Gly546fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254965 |
NM_000527.5(LDLR):c.1633G>T (p.Gly545Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254966 |
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254969 |
NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254970 |
NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254972 |
NM_000527.4(LDLR):c.1655del (p.Ile552fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254973 |
NM_000527.4(LDLR):c.1651del (p.Asp551fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254977 |
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254978 |
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254980 |
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254981 |
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254982 |
NM_000527.4(LDLR):c.1683del (p.Gln561fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254985 |
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254986 |
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254987 |
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254988 |
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254991 |
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254993 |
NM_000527.4(LDLR):c.1705G>A (p.Asp569Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254994 |
NM_000527.5(LDLR):c.1705+2_1705+3insC |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254998 |
NM_000527.4(LDLR):c.1718del (p.Gly573fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254999 |
NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255000 |
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255003 |
NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255005 |
NM_000527.4(LDLR):c.1737del (p.Ser580fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255006 |
NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255007 |
NM_000527.5(LDLR):c.1748A>G (p.His583Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255008 |
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255009 |
NM_000527.5(LDLR):c.1749C>A (p.His583Gln) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255011 |
NM_000527.4(LDLR):c.1752del (p.Ile585fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255012 |
NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255013 |
NM_000527.4(LDLR):c.1756del (p.Ser586fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255014 |
NM_000527.4(LDLR):c.1759del (p.Ser587fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255016 |
NM_000527.4(LDLR):c.1766del (p.Asp589fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255019 |
NM_000527.4(LDLR):c.1779del (p.Asn594fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255020 |
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255021 |
NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255022 |
NM_000527.4(LDLR):c.1789del (p.Thr597fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255025 |
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255026 |
NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255027 |
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255029 |
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255031 |
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255032 |
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255033 |
NM_000527.5(LDLR):c.1820A>G (p.His607Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255034 |
NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255035 |
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255037 |
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255038 |
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255039 |
NM_000527.5(LDLR):c.1832dup (p.Leu611fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255041 |
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255044 |
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255046 |
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255049 |
NM_000527.5(LDLR):c.1845+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255050 |
NM_000527.5(LDLR):c.1846-2A>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255051 |
NM_000527.5(LDLR):c.1846-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255052 |
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255054 |
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255054 |
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255055 |
NM_000527.5(LDLR):c.1858T>C (p.Trp620Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255058 |
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255059 |
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255063 |
NM_000527.4(LDLR):c.1872del (p.Asn625fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255065 |
NM_000527.4(LDLR):c.1876del (p.Glu626fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255066 |
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255067 |
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255068 |
NM_001195798.2(LDLR):c.1886del (p.Phe629fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255069 |
NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255070 |
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255071 |
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255073 |
NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255077 |
NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255078 |
NM_000527.4(LDLR):c.1936del (p.Leu646fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255079 |
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255080 |
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255088 |
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255089 |
NM_000527.4(LDLR):c.1964del (p.Phe655fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255091 |
NM_000527.5(LDLR):c.1968C>G (p.His656Gln) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255092 |
NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255093 |
NM_000527.5(LDLR):c.1975_1987+16del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255095 |
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255097 |
NM_000527.4(LDLR):c.1987+1del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255098 |
NM_000527.4(LDLR):c.1987+2_1987+34del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255101 |
NM_000527.4(LDLR):c.1988-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255102 |
NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255108 |
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255109 |
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255110 |
NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255110 |
NM_001195803.2(LDLR):c.1606+163del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255112 |
NM_001195803.2(LDLR):c.1606+164del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255114 |
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255116 |
NM_000527.5(LDLR):c.2035dup (p.Tyr679fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255119 |
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255123 |
NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255125 |
NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255126 |
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255130 |
NM_000527.4(LDLR):c.2068del (p.His690fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255131 |
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255132 |
NM_000527.5(LDLR):c.2080T>G (p.Phe694Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255133 |
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255134 |
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255135 |
NM_001195803.2(LDLR):c.1606+241del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255136 |
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255140 |
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255141 |
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255142 |
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255143 |
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255144 |
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255145 |
NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255146 |
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255147 |
NM_000527.5(LDLR):c.2140+2T>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255155 |
NM_000527.4(LDLR):c.2175del (p.Thr726fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255157 |
NM_000527.4(LDLR):c.2184del (p.Arg728fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255158 |
NM_000527.5(LDLR):c.2186dup (p.Val731fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255160 |
NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255163 |
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255166 |
NM_000527.4(LDLR):c.2226del (p.Thr743fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255167 |
NM_000527.4(LDLR):c.2230del (p.Arg744fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255168 |
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255169 |
NM_000527.4(LDLR):c.2266del (p.Thr756fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255172 |
NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255174 |
NM_000527.4(LDLR):c.2299del (p.Met767fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255175 |
NM_000527.5(LDLR):c.2311+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255176 |
NM_000527.5(LDLR):c.2311+2T>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255177 |
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255178 |
NM_000527.4(LDLR):c.2318del (p.Gly773fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255181 |
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255185 |
NM_000527.4(LDLR):c.2385del (p.Ile796fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255186 |
NM_000527.5(LDLR):c.2389+1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255188 |
NM_000527.5(LDLR):c.2389+2T>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255193 |
NM_000527.5(LDLR):c.2390-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255193 |
NM_000527.5(LDLR):c.2390-1G>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255194 |
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255196 |
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255200 |
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255202 |
NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255204 |
NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255207 |
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255207 |
NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255209 |
NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255210 |
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255212 |
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255213 |
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255215 |
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255217 |
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255218 |
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255222 |
NM_000527.5(LDLR):c.2544dup (p.Ser849fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255224 |
NM_000527.5(LDLR):c.2547+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255227 |
NM_000527.5(LDLR):c.2548-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255229 |
NM_001195798.2(LDLR):c.2548-2del |
| Familial hypercholesterolemia 1 (due to APOB) |
rs886039829 |
NM_000384.3(APOB):c.13158del (p.Glu4387fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs886039831 |
NM_000527.4(LDLR):c.818-3C>G |
| Familial hypercholesterolemia 1 (due to PCSK9) |
rs886039839 |
NM_174936.3(PCSK9):c.185C>A (p.Ala62Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs912448894 |
NM_000527.4(LDLR):c.431C>T (p.Pro144Leu) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894828 |
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894829 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894830 |
NM_000169.2(GLA):c.886A>G (p.Met296Val) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894831 |
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894832 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2930C>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894834 |
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894835 |
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894836 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4198A>C |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894837 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6286G>A |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894838 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+5242A>C |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894839 |
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894840 |
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894841 |
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894842 |
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894843 |
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894844 |
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894848 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894849 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2547A>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894851 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3463G>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs104894852 |
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs1057516429 |
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs1057519609 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2494_300+2496del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs111422676 |
NM_000169.2(GLA):c.1088G>A (p.Arg363His) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs112341092 |
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs199473684 |
NM_000169.3(GLA):c.640-801G>A |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935195 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935196 |
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935197 |
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935486 |
NM_000169.2(GLA):c.791A>T (p.Asp264Val) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935487 |
NM_000169.2(GLA):c.797A>T (p.Asp266Val) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935488 |
NM_000169.2(GLA):c.806T>C (p.Val269Ala) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935489 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3022G>A |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935491 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>T |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935492 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935493 |
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs28935495 |
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs372966991 |
NM_000169.2(GLA):c.335G>A (p.Arg112His) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs397515870 |
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123198 |
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123201 |
NM_000169.2(GLA):c.125T>C (p.Met42Thr) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123217 |
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123220 |
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123221 |
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123224 |
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123225 |
NM_000169.3(GLA):c.959_962del (p.Asn320fs) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123228 |
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs398123229 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2915_300+2918del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs727503072 |
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs727503949 |
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs727504348 |
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs730880450 |
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs730880451 |
NM_000169.2(GLA):c.801G>A (p.Met267Ile) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs730880453 |
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs730880455 |
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044500 |
NM_000169.2(GLA):c.128del (p.Gly43fs) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044669 |
NM_000169.2(GLA):c.369+1G>A |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044702 |
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044747 |
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044748 |
NM_000169.2(GLA):c.801+3A>G |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044774 |
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044775 |
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs797044776 |
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) |
| Fabry disease (due to RPL36A-HNRNPH2|GLA) |
rs869312134 |
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312135 |
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312136 |
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312137 |
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312138 |
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312139 |
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312140 |
NM_000169.2(GLA):c.256T>C (p.Tyr86His) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312141 |
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312142 |
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312145 |
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312146 |
NM_000169.2(GLA):c.561G>A (p.Met187Ile) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312148 |
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312149 |
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312150 |
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312151 |
NM_000169.2(GLA):c.657C>G (p.Ile219Met) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312153 |
NM_000169.2(GLA):c.761T>C (p.Val254Ala) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312154 |
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312158 |
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312160 |
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312163 |
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312165 |
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312214 |
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312227 |
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312316 |
NM_000169.3(GLA):c.50_54del (p.Arg17fs) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312324 |
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312344 |
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312389 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312396 |
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312399 |
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312427 |
NM_000169.2(GLA):c.805G>A (p.Val269Met) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs869312432 |
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs876661347 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs878853698 |
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs879253955 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs879254022 |
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs886041315 |
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) |
| Fabry disease (due to RPL36A-HNRNPH2|GLA) |
rs886044766 |
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs886044829 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs886044843 |
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs886044860 |
NM_000169.2(GLA):c.999+2T>C |
| Fabry disease (due to RPL36A-HNRNPH2|GLA) |
rs886044879 |
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) |
| Fabry disease (due to GLA|RPL36A-HNRNPH2) |
rs886044909 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2620del |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1057518372 |
NM_000090.3(COL3A1):c.897+1G>A |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1057521106 |
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1060500199 |
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1085307896 |
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs111505097 |
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs111505097 |
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs112371422 |
NM_000090.4(COL3A1):c.3325C>T |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs112456072 |
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs112532745 |
NM_000090.3(COL3A1):c.4011+1G>T |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs113485686 |
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs113871730 |
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912914 |
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912914 |
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912916 |
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912917 |
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912918 |
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912919 |
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912921 |
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912922 |
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912923 |
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912924 |
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912925 |
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912926 |
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912927 |
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912928 |
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs267599120 |
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs387906557 |
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509369 |
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509370 |
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509370 |
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509371 |
NM_000090.3(COL3A1):c.2553+5G>T |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509372 |
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509373 |
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509375 |
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509376 |
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs553203474 |
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779416 |
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779417 |
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779418 |
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779419 |
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779421 |
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779422 |
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779423 |
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779424 |
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779425 |
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779426 |
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779427 |
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779428 |
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779429 |
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779430 |
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779431 |
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779432 |
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779433 |
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779434 |
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779435 |
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779436 |
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779437 |
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779438 |
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779439 |
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779440 |
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779441 |
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779442 |
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779443 |
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779444 |
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779445 |
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779446 |
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779447 |
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779448 |
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779449 |
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779450 |
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779451 |
NM_000090.3(COL3A1):c.555del (p.Gly186fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779452 |
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779453 |
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779454 |
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779455 |
NM_000090.3(COL3A1):c.766del (p.Ile256fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779456 |
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779457 |
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779458 |
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779459 |
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779460 |
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779461 |
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779462 |
NM_000090.3(COL3A1):c.1831_1832del (p.Asn611fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779463 |
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779464 |
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779464 |
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779465 |
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779466 |
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779467 |
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779468 |
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779469 |
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779470 |
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779471 |
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779472 |
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779473 |
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779474 |
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779475 |
NM_000090.3(COL3A1):c.1974_1977+4del |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779476 |
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779477 |
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779478 |
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779479 |
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779480 |
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779481 |
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779482 |
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779483 |
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779484 |
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779485 |
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779486 |
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779487 |
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779488 |
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779489 |
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779490 |
NM_000090.3(COL3A1):c.3966del (p.Lys1323fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779491 |
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779492 |
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779493 |
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779494 |
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779495 |
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779496 |
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779497 |
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779498 |
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779499 |
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779500 |
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779501 |
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779502 |
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779503 |
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779504 |
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779505 |
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779506 |
NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779507 |
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779508 |
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779509 |
NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779511 |
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779512 |
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779513 |
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779514 |
NM_000090.3(COL3A1):c.2553+1del |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779515 |
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779516 |
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779517 |
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779518 |
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779518 |
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779519 |
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779520 |
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779521 |
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779522 |
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779523 |
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779524 |
NM_000090.3(COL3A1):c.582+2dup |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779525 |
NM_000090.3(COL3A1):c.1100_1117del (p.Gln367_Gly372del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779526 |
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779527 |
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779529 |
NM_000090.3(COL3A1):c.3062_3064del (p.Leu1021del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779530 |
NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779531 |
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779532 |
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779534 |
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779535 |
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779536 |
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779537 |
NM_000090.3(COL3A1):c.1662+2dup |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779539 |
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779540 |
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779541 |
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779542 |
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779543 |
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779544 |
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779545 |
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779546 |
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779547 |
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779548 |
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779549 |
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779550 |
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779551 |
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779552 |
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779553 |
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779554 |
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779555 |
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779556 |
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779557 |
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779558 |
NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779559 |
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779560 |
NM_000090.3(COL3A1):c.2122_2148del (p.Gly708_Pro716del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779561 |
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779562 |
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779563 |
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779564 |
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779565 |
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779566 |
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779567 |
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779568 |
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779569 |
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779570 |
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779571 |
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779572 |
NM_000090.3(COL3A1):c.2445+2dup |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779573 |
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779574 |
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779575 |
NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779576 |
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779577 |
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779578 |
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779579 |
NM_000090.3(COL3A1):c.1068_1069insGACCCTGCA (p.Ala356_Gly357insDPA) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779580 |
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779581 |
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779582 |
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779583 |
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779584 |
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779585 |
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779586 |
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779587 |
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779588 |
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779589 |
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779591 |
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779592 |
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779593 |
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779595 |
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779596 |
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779597 |
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779599 |
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779600 |
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779601 |
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779602 |
NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779603 |
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779604 |
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779605 |
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779606 |
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779607 |
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779608 |
NM_000090.3(COL3A1):c.1773dup (p.Lys592Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779609 |
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779610 |
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779611 |
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779613 |
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779615 |
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779616 |
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779617 |
NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779618 |
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779619 |
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779620 |
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779622 |
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779623 |
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779624 |
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779626 |
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779627 |
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779629 |
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779630 |
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779631 |
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779632 |
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779633 |
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779634 |
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779635 |
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779637 |
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779638 |
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779639 |
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779640 |
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779641 |
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779642 |
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779643 |
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779644 |
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779645 |
NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779646 |
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779647 |
NM_000090.3(COL3A1):c.3989del (p.Glu1330fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779648 |
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779649 |
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779650 |
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779651 |
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779652 |
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779653 |
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779654 |
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779656 |
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779658 |
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779659 |
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779660 |
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779661 |
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779662 |
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779663 |
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779664 |
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779665 |
NM_000090.3(COL3A1):c.1410del (p.Gly471fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779666 |
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779668 |
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779670 |
NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779671 |
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779672 |
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779673 |
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779674 |
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779675 |
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779676 |
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779677 |
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779678 |
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779679 |
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779680 |
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779682 |
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779684 |
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779685 |
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779686 |
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779687 |
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779688 |
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779689 |
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779690 |
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779691 |
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779692 |
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779693 |
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779694 |
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779695 |
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779696 |
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779697 |
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779698 |
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779699 |
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779700 |
NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779701 |
NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779702 |
NM_000090.3(COL3A1):c.1610delG |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779703 |
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779704 |
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779705 |
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779706 |
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779707 |
NM_000090.3(COL3A1):c.413del (p.Pro138fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779708 |
NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779709 |
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779710 |
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779711 |
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779712 |
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779713 |
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779714 |
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779715 |
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779717 |
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779718 |
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779719 |
NM_000090.3(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779720 |
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779721 |
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779722 |
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779723 |
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs786200946 |
NM_000090.3(COL3A1):c.1923+2_1923+5del (p.Gly624_Gln641del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs794728040 |
NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs794728044 |
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs794728060 |
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs863224860 |
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs869312034 |
NM_000090.3(COL3A1):c.3093+1G>A |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs878853651 |
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) |
| Congenital heart disease (due to NKX2-5) |
rs864321649 |
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) |
| Cerebral cavernous malformations 2 (due to CCM2) |
rs137852841 |
NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter) |
| Cerebral cavernous malformations 1 (due to KRIT1) |
rs267607203 |
NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter) |
| Cerebral cavernous malformation (due to KRIT1) |
rs267607203 |
NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter) |
| Cerebral arteriovenous malformation (due to BRAF) |
rs113488022 |
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) |
| Cerebral arteriovenous malformation (due to KRAS) |
rs121913529 |
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) |
| Cerebral arteriovenous malformation (due to KRAS) |
rs121913529 |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1060500137 |
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs121918597 |
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs121918600 |
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs121918602 |
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs121918605 |
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs139228801 |
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs190140598 |
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CALM1) |
rs267607277 |
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs397507556 |
NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) |
| Catecholaminergic polymorphic ventricular tachycardia (due to TRDN) |
rs397515458 |
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs397516508 |
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs397516510 |
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs397516539 |
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs730880187 |
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs786205106 |
NM_001232.3(CASQ2):c.339_354del (p.Ser113fs) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs786205791 |
NM_001232.3(CASQ2):c.606+1G>C |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs786205798 |
NM_001232.3(CASQ2):c.1017dup (p.Asp340Ter) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728708 |
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728721 |
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728740 |
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728746 |
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728753 |
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728754 |
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728777 |
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728786 |
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728787 |
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728804 |
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728810 |
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728811 |
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728832 |
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) |
| Cardiomyopathy (due to MYL3) |
rs104893750 |
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) |
| Cardiomyopathy (due to TPM1) |
rs104894503 |
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) |
| Cardiomyopathy (due to TNNI3) |
rs104894727 |
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) |
| Cardiomyopathy (due to MYH7) |
rs1060501443 |
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) |
| Cardiomyopathy (due to PLN) |
rs111033559 |
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) |
| Cardiomyopathy (due to PLN) |
rs111033560 |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
| Cardiomyopathy (due to PKP2) |
rs111517471 |
NM_001005242.3(PKP2):c.2357+1G>A |
| Cardiomyopathy (due to MYBPC3) |
rs113358486 |
NM_000256.3(MYBPC3):c.3190+2T>G |
| Cardiomyopathy (due to PKP2) |
rs121434420 |
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) |
| Cardiomyopathy (due to PRKAG2) |
rs121908987 |
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) |
| Cardiomyopathy (due to MYBPC3) |
rs121909374 |
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) |
| Cardiomyopathy (due to DSP) |
rs121912998 |
NM_004415.4(DSP):c.88G>A (p.Val30Met) |
| Cardiomyopathy (due to MYH7) |
rs121913625 |
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) |
| Cardiomyopathy (due to MYH7) |
rs121913626 |
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) |
| Cardiomyopathy (due to MYH7) |
rs121913627 |
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) |
| Cardiomyopathy (due to MYH7) |
rs121913628 |
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) |
| Cardiomyopathy (due to MYH7) |
rs121913630 |
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) |
| Cardiomyopathy (due to MYH7) |
rs121913631 |
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) |
| Cardiomyopathy (due to MYH7) |
rs121913632 |
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) |
| Cardiomyopathy (due to MYH7) |
rs121913637 |
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) |
| Cardiomyopathy (due to MYH7) |
rs121913638 |
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) |
| Cardiomyopathy (due to TTR) |
rs121918070 |
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) |
| Cardiomyopathy (due to TNNT2) |
rs121964857 |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) |
| Cardiomyopathy (due to NEXN) |
rs137853197 |
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) |
| Cardiomyopathy (due to MYH7) |
rs138049878 |
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) |
| Cardiomyopathy (due to MYH7) |
rs141735183 |
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) |
| Cardiomyopathy (due to MYH7) |
rs145213771 |
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) |
| Cardiomyopathy (due to EMD) |
rs148515772 |
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) |
| Cardiomyopathy (due to MYH7) |
rs148808089 |
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) |
| Cardiomyopathy (due to MYBPC3) |
rs193922384 |
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) |
| Cardiomyopathy (due to MYH7) |
rs193922390 |
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) |
| Cardiomyopathy (due to RYR2) |
rs193922626 |
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) |
| Cardiomyopathy (due to CSRP3) |
rs193922667 |
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) |
| Cardiomyopathy (due to DSP) |
rs193922668 |
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) |
| Cardiomyopathy (due to PKP2) |
rs193922672 |
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) |
| Cardiomyopathy (due to PKP2) |
rs193922674 |
NM_001005242.3(PKP2):c.2014-1G>C |
| Cardiomyopathy (due to ACTC1) |
rs193922680 |
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) |
| Cardiomyopathy (due to ABCC9) |
rs193922683 |
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) |
| Cardiomyopathy (due to PRKAG2) |
rs193922697 |
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) |
| Cardiomyopathy (due to DSC2) |
rs193922708 |
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) |
| Cardiomyopathy (due to MYLK2) |
rs193922712 |
NM_033118.3(MYLK2):c.595A>G (p.Ile199Val) |
| Cardiomyopathy (due to GLA) |
rs199473684 |
NM_000169.3(GLA):c.640-801G>A |
| Cardiomyopathy (due to MYL3) |
rs199474703 |
NM_000258.3(MYL3):c.281G>A (p.Arg94His) |
| Cardiomyopathy (due to TPM1) |
rs199476316 |
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) |
| Cardiomyopathy (due to MYBPC3) |
rs200411226 |
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) |
| Cardiomyopathy (due to CRYAB) |
rs202024436 |
NM_001289808.2(CRYAB):c.325-2A>G |
| Cardiomyopathy (due to MYH7) |
rs202141173 |
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) |
| Cardiomyopathy (due to MYH7) |
rs267606908 |
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) |
| Cardiomyopathy (due to MYH7) |
rs267606911 |
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) |
| Cardiomyopathy (due to PRKAG2) |
rs267606976 |
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) |
| Cardiomyopathy (due to RBM20) |
rs267607004 |
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) |
| Cardiomyopathy (due to LNMA) |
rs267607571 |
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) |
| Cardiomyopathy (due to LNMA) |
rs267607577 |
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) |
| Cardiomyopathy (due to MYBPC3) |
rs2856655 |
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) |
| Cardiomyopathy (due to LNMA) |
rs28933093 |
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) |
| Cardiomyopathy (due to TTR) |
rs28933979 |
NM_000371.4(TTR):c.148G>A (p.Val50Met) |
| Cardiomyopathy (due to MYH7) |
rs3218713 |
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) |
| Cardiomyopathy (due to MYH7) |
rs3218714 |
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) |
| Cardiomyopathy (due to MYH7) |
rs3218716 |
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) |
| Cardiomyopathy (due to MYBPC3) |
rs368765949 |
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) |
| Cardiomyopathy (due to TNNI3) |
rs368861241 |
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) |
| Cardiomyopathy (due to MYH7) |
rs371898076 |
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) |
| Cardiomyopathy (due to PKP2) |
rs372827156 |
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs373746463 |
NM_000256.3(MYBPC3):c.3330+5G>C |
| Cardiomyopathy (due to MYBPC3) |
rs375675796 |
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) |
| Cardiomyopathy (due to MYBPC3) |
rs375882485 |
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) |
| Cardiomyopathy (due to MYBPC3) |
rs376395543 |
NM_000256.3(MYBPC3):c.26-2A>G |
| Cardiomyopathy (due to MYBPC3) |
rs387906397 |
NM_000256.3(MYBPC3):c.3330+2T>G |
| Cardiomyopathy (due to MYBPC3) |
rs387907267 |
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) |
| Cardiomyopathy (due to GLA) |
rs397515870 |
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) |
| Cardiomyopathy (due to MYBPC3) |
rs397515889 |
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515894 |
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) |
| Cardiomyopathy (due to MYBPC3) |
rs397515905 |
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) |
| Cardiomyopathy (due to MYBPC3) |
rs397515907 |
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) |
| Cardiomyopathy (due to MYBPC3) |
rs397515912 |
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) |
| Cardiomyopathy (due to MYBPC3) |
rs397515912 |
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) |
| Cardiomyopathy (due to MYBPC3) |
rs397515916 |
NM_000256.3(MYBPC3):c.1624+4A>T |
| Cardiomyopathy (due to MYBPC3) |
rs397515925 |
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515934 |
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515937 |
NM_000256.3(MYBPC3):c.1928-2A>G |
| Cardiomyopathy (due to MYBPC3) |
rs397515944 |
NM_000256.3(MYBPC3):c.2040dup (p.Val681fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515963 |
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515973 |
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515990 |
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397515992 |
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs397516005 |
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs397516020 |
NM_000256.3(MYBPC3):c.3490+1G>T |
| Cardiomyopathy (due to MYBPC3) |
rs397516028 |
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) |
| Cardiomyopathy (due to MYBPC3) |
rs397516037 |
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs397516040 |
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) |
| Cardiomyopathy (due to MYBPC3) |
rs397516042 |
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs397516049 |
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397516057 |
NM_000256.3(MYBPC3):c.506-2A>C |
| Cardiomyopathy (due to MYBPC3) |
rs397516059 |
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397516068 |
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) |
| Cardiomyopathy (due to MYBPC3) |
rs397516073 |
NM_000256.3(MYBPC3):c.821+1G>A |
| Cardiomyopathy (due to MYBPC3) |
rs397516074 |
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) |
| Cardiomyopathy (due to MYBPC3) |
rs397516083 |
NM_000256.3(MYBPC3):c.927-9G>A |
| Cardiomyopathy (due to MYH7) |
rs397516088 |
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) |
| Cardiomyopathy (due to MYH7) |
rs397516089 |
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) |
| Cardiomyopathy (due to MYH7) |
rs397516127 |
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) |
| Cardiomyopathy (due to MYH7) |
rs397516132 |
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) |
| Cardiomyopathy (due to MYH7) |
rs397516161 |
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) |
| Cardiomyopathy (due to MYH7) |
rs397516165 |
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) |
| Cardiomyopathy (due to MYH7) |
rs397516178 |
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) |
| Cardiomyopathy (due to MYH7) |
rs397516201 |
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) |
| Cardiomyopathy (due to MYH7) |
rs397516207 |
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) |
| Cardiomyopathy (due to MYH7) |
rs397516212 |
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) |
| Cardiomyopathy (due to MYH7) |
rs397516225 |
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) |
| Cardiomyopathy (due to MYH7) |
rs397516258 |
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) |
| Cardiomyopathy (due to MYH7) |
rs397516264 |
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) |
| Cardiomyopathy (due to MYH7) |
rs397516265 |
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) |
| Cardiomyopathy (due to MYH7) |
rs397516269 |
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) |
| Cardiomyopathy (due to TNNI3) |
rs397516347 |
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) |
| Cardiomyopathy (due to TNNI3) |
rs397516349 |
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) |
| Cardiomyopathy (due to TNNI3) |
rs397516353 |
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) |
| Cardiomyopathy (due to TNNI3) |
rs397516354 |
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) |
| Cardiomyopathy (due to TNNI3) |
rs397516355 |
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) |
| Cardiomyopathy (due to TNNI3) |
rs397516357 |
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) |
| Cardiomyopathy (due to TPM1) |
rs397516373 |
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) |
| Cardiomyopathy (due to TPM1) |
rs397516386 |
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) |
| Cardiomyopathy (due to TNNT2) |
rs397516463 |
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) |
| Cardiomyopathy (due to TNNT2) |
rs397516465 |
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) |
| Cardiomyopathy (due to TNNT2) |
rs397516484 |
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) |
| Cardiomyopathy (due to DSG2) |
rs397516706 |
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) |
| Cardiomyopathy (due to PLN) |
rs397516784 |
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) |
| Cardiomyopathy (due to DSP) |
rs397516915 |
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) |
| Cardiomyopathy (due to DSP) |
rs397516940 |
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) |
| Cardiomyopathy (due to DSP) |
rs397516955 |
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) |
| Cardiomyopathy (due to PKP2) |
rs397516986 |
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) |
| Cardiomyopathy (due to PKP2) |
rs397517003 |
NM_001005242.3(PKP2):c.1556+1G>A |
| Cardiomyopathy (due to PKP2) |
rs397517008 |
NM_004572.3(PKP2):c.1759del (p.Val587fs) |
| Cardiomyopathy (due to PKP2) |
rs397517010 |
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) |
| Cardiomyopathy (due to PKP2) |
rs397517012 |
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) |
| Cardiomyopathy (due to DSC2) |
rs397517408 |
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) |
| Cardiomyopathy (due to TTN) |
rs397517689 |
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) |
| Cardiomyopathy (due to TTN) |
rs397517735 |
NM_001267550.2(TTN):c.86821+2T>A |
| Cardiomyopathy (due to MYH7) |
rs45516091 |
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) |
| Cardiomyopathy (due to MYH7) |
rs45544633 |
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) |
| Cardiomyopathy (due to TNNT2) |
rs45586240 |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) |
| Cardiomyopathy (due to MYH7) |
rs45611033 |
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) |
| Cardiomyopathy (due to TNNT2) |
rs483352832 |
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) |
| Cardiomyopathy (due to LNMA) |
rs56793579 |
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) |
| Cardiomyopathy (due to LNMA) |
rs56816490 |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) |
| Cardiomyopathy (due to MYBPC3) |
rs587782958 |
NM_000256.3(MYBPC3):c.3190+5G>A |
| Cardiomyopathy (due to LNMA) |
rs60682848 |
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) |
| Cardiomyopathy (due to DES) |
rs62636491 |
NM_001927.4(DES):c.893C>T (p.Ser298Leu) |
| Cardiomyopathy (due to TMEM43) |
rs63750743 |
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) |
| Cardiomyopathy (due to TTN) |
rs72646846 |
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs727503166 |
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) |
| Cardiomyopathy (due to MYBPC3) |
rs727503203 |
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) |
| Cardiomyopathy (due to MYBPC3) |
rs727503204 |
NM_000256.3(MYBPC3):c.1351+1G>A |
| Cardiomyopathy (due to MYH7) |
rs727503246 |
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) |
| Cardiomyopathy (due to MYH7) |
rs727504238 |
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) |
| Cardiomyopathy (due to TNNT2) |
rs727504247 |
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs727504265 |
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) |
| Cardiomyopathy (due to MYH7) |
rs727504273 |
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) |
| Cardiomyopathy (due to MYBPC3) |
rs727504289 |
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) |
| Cardiomyopathy (due to TPM1) |
rs727504290 |
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) |
| Cardiomyopathy (due to MYH7) |
rs727504356 |
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) |
| Cardiomyopathy (due to PKP2) |
rs727504432 |
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) |
| Cardiomyopathy (due to TTN) |
rs727504466 |
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) |
| Cardiomyopathy (due to TTN) |
rs727504799 |
NM_001267550.2(TTN):c.51739+1G>C |
| Cardiomyopathy (due to TTN) |
rs727504825 |
NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) |
| Cardiomyopathy (due to TTN) |
rs727504851 |
NM_001267550.2(TTN):c.49648+2del |
| Cardiomyopathy (due to TTN) |
rs727505319 |
NM_001267550.2(TTN):c.97492+1G>C |
| Cardiomyopathy (due to DSP) |
rs730880082 |
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) |
| Cardiomyopathy (due to DSP) |
rs730880092 |
NM_004415.4(DSP):c.6310del (p.Thr2104fs) |
| Cardiomyopathy (due to TTN) |
rs730880365 |
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) |
| Cardiomyopathy (due to MYBPC3) |
rs730880531 |
NM_000256.3(MYBPC3):c.1227-2A>G |
| Cardiomyopathy (due to MYBPC3) |
rs730880546 |
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs730880639 |
NM_000256.3(MYBPC3):c.1223+1G>A |
| Cardiomyopathy (due to MYBPC3) |
rs730880655 |
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) |
| Cardiomyopathy (due to MYBPC3) |
rs730880666 |
NM_000256.3(MYBPC3):c.3079G>AA |
| Cardiomyopathy (due to MYBPC3) |
rs730880686 |
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) |
| Cardiomyopathy (due to MYBPC3) |
rs730880713 |
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) |
| Cardiomyopathy (due to MYBPC3) |
rs730880717 |
NM_000256.3(MYBPC3):c.2894_2905+4del |
| Cardiomyopathy (due to MYBPC3) |
rs730880718 |
NM_000256.3(MYBPC3):c.3182_3190+4del |
| Cardiomyopathy (due to MYBPC3) |
rs730880719 |
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) |
| Cardiomyopathy (due to MYH7) |
rs730880895 |
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) |
| Cardiomyopathy (due to MYH7) |
rs730880903 |
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) |
| Cardiomyopathy (due to TNNI3) |
rs730881069 |
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) |
| Cardiomyopathy (due to TNNT2) |
rs730881097 |
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) |
| Cardiomyopathy (due to TNNT2) |
rs730881119 |
NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) |
| Cardiomyopathy (due to TNNT2) |
rs74315379 |
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) |
| Cardiomyopathy (due to DSP) |
rs746877365 |
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) |
| Cardiomyopathy (due to TTN) |
rs751502842 |
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) |
| Cardiomyopathy (due to PKP2) |
rs760576804 |
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) |
| Cardiomyopathy (due to PKP2) |
rs764817683 |
NM_004572.3(PKP2):c.2013del (p.Lys672fs) |
| Cardiomyopathy (due to PKP2) |
rs766209297 |
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) |
| Cardiomyopathy (due to TTR) |
rs76992529 |
NM_000371.4(TTR):c.424G>A (p.Val142Ile) |
| Cardiomyopathy (due to DSP) |
rs770873593 |
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) |
| Cardiomyopathy (due to DSP) |
rs794728124 |
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) |
| Cardiomyopathy (due to RYR2) |
rs794728826 |
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) |
| Cardiomyopathy (due to PKP2) |
rs794729133 |
NM_004572.3(PKP2):c.1171-2A>G |
| Cardiomyopathy (due to TTN) |
rs794729354 |
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) |
| Cardiomyopathy (due to TTN) |
rs797046064 |
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) |
| Cardiomyopathy (due to MYBPC3) |
rs863225106 |
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs864622197 |
NM_000256.3(MYBPC3):c.906-36G>A |
| Cardiomyopathy (due to DSP) |
rs869025395 |
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) |
| Cardiomyopathy (due to TTN) |
rs869038795 |
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) |
| Cardiomyopathy (due to TTN) |
rs869320740 |
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) |
| Cardiomyopathy (due to MYH7) |
rs886039030 |
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) |
| Cardiomyopathy (due to GLA) |
rs886039136 |
NM_000169.2(GLA):c.295del (p.Gln99fs) |
| Cardiomyopathy (due to TTN) |
rs886044536 |
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs121913355 |
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177034 |
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177035 |
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177036 |
NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177037 |
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177038 |
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177039 |
NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177040 |
NM_001374258.1(BRAF):c.1861A>G (p.Asn621Asp) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177042 |
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs387906660 |
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs387906661 |
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397507466 |
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397507473 |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397507481 |
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397507483 |
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397507484 |
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs397516895 |
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) |
| Cardiofaciocutaneous syndrome 1 (due to KRAS) |
rs727503109 |
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) |
| Cardiofaciocutaneous syndrome 1 (due to MAP2K2) |
rs730880517 |
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs794729219 |
NM_001374258.1(BRAF):c.1903T>C (p.Phe635Leu) |
| Brugada syndrome (due to SCN5A) |
rs1060501127 |
NM_000335.4(SCN5A):c.5414_5417del (p.Thr1805fs) |
| Brugada syndrome (due to SCN5A) |
rs1064792926 |
NM_000335.4(SCN5A):c.3010_3022del (p.Cys1004fs) |
| Brugada syndrome (due to SCN5A) |
rs12720441 |
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) |
| Brugada syndrome (due to SCN5A) |
rs137854600 |
NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) |
| Brugada syndrome (due to SCN5A) |
rs137854601 |
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) |
| Brugada syndrome (due to SCN5A) |
rs137854604 |
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) |
| Brugada syndrome (due to SCN5A) |
rs137854607 |
NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) |
| Brugada syndrome (due to SCN5A) |
rs137854611 |
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) |
| Brugada syndrome (due to SCN5A) |
rs137854612 |
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) |
| Brugada syndrome (due to SCN5A) |
rs137854613 |
NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) |
| Brugada syndrome (due to SCN5A) |
rs137854614 |
NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) |
| Brugada syndrome (due to SCN5A) |
rs137854618 |
NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) |
| Brugada syndrome (due to SCN5A) |
rs199473058 |
NM_198056.2(SCN5A):c.362G>A (p.Arg121Gln) |
| Brugada syndrome (due to SCN5A) |
rs199473062 |
NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) |
| Brugada syndrome (due to SCN5A) |
rs199473072 |
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) |
| Brugada syndrome (due to SCN5A) |
rs199473083 |
NM_198056.2(SCN5A):c.845G>A (p.Arg282His) |
| Brugada syndrome (due to SCN5A) |
rs199473153 |
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) |
| Brugada syndrome (due to SCN5A) |
rs199473161 |
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) |
| Brugada syndrome (due to SCN5A) |
rs199473168 |
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) |
| Brugada syndrome (due to SCN5A) |
rs199473171 |
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) |
| Brugada syndrome (due to SCN5A) |
rs199473172 |
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) |
| Brugada syndrome (due to SCN5A) |
rs199473220 |
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) |
| Brugada syndrome (due to SCN5A) |
rs199473224 |
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) |
| Brugada syndrome (due to SCN5A) |
rs199473225 |
NM_198056.2(SCN5A):c.3995C>G (p.Pro1332Arg) |
| Brugada syndrome (due to SCN5A) |
rs199473225 |
NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) |
| Brugada syndrome (due to SCN5A) |
rs199473284 |
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) |
| Brugada syndrome (due to SCN5A) |
rs199473292 |
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) |
| Brugada syndrome (due to SCN5A) |
rs199473297 |
NM_198056.2(SCN5A):c.5126C>T (p.Thr1709Met) |
| Brugada syndrome (due to SCN5A) |
rs199473305 |
NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg) |
| Brugada syndrome (due to SCN5A) |
rs199473311 |
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) |
| Brugada syndrome (due to SCN5A) |
rs199473554 |
NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) |
| Brugada syndrome (due to SCN5A) |
rs199473556 |
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) |
| Brugada syndrome (due to SCN5A) |
rs199473565 |
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) |
| Brugada syndrome (due to SCN5A) |
rs28937316 |
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) |
| Brugada syndrome (due to SCN5A) |
rs28937317 |
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) |
| Brugada syndrome (due to SCN5A) |
rs28937318 |
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) |
| Brugada syndrome (due to SCN5A) |
rs370438420 |
NM_000335.5(SCN5A):c.612-2A>G |
| Brugada syndrome (due to SCN5A) |
rs397514251 |
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) |
| Brugada syndrome (due to SCN5A) |
rs397514450 |
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) |
| Brugada syndrome (due to SCN5A) |
rs45546039 |
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) |
| Brugada syndrome (due to SCN5A) |
rs72549410 |
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) |
| Brugada syndrome (due to SCN5A) |
rs727503411 |
NM_000335.4(SCN5A):c.255del (p.Phe86fs) |
| Brugada syndrome (due to SCN5A) |
rs727505158 |
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) |
| Brugada syndrome (due to SCN5A) |
rs748312802 |
NM_198056.2(SCN5A):c.4132G>A (p.Val1378Met) |
| Brugada syndrome (due to SCN5A) |
rs756159737 |
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) |
| Brugada syndrome (due to SCN5A) |
rs759924541 |
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) |
| Brugada syndrome (due to SCN5A) |
rs777689378 |
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) |
| Brugada syndrome (due to SCN5A) |
rs786204839 |
NM_198056.2(SCN5A):c.1338+2T>A |
| Brugada syndrome (due to SCN5A) |
rs794728843 |
NM_198056.2(SCN5A):c.611+1G>A |
| Brugada syndrome (due to SCN5A) |
rs794728846 |
NM_000335.5(SCN5A):c.483-1G>A |
| Brugada syndrome (due to SCN5A) |
rs794728849 |
NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) |
| Brugada syndrome (due to SCN5A) |
rs794728857 |
NM_000335.4(SCN5A):c.1519-1G>A |
| Brugada syndrome (due to SCN5A) |
rs794728865 |
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) |
| Brugada syndrome (due to SCN5A) |
rs794728879 |
NM_198056.2(SCN5A):c.4245+1G>C |
| Brugada syndrome (due to SCN5A) |
rs794728880 |
NM_198056.2(SCN5A):c.4245+2T>A |
| Brugada syndrome (due to SCN5A) |
rs794728898 |
NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) |
| Brugada syndrome (due to SCN5A) |
rs794728906 |
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) |
| Brugada syndrome (due to SCN5A) |
rs794728910 |
NM_000335.4(SCN5A):c.1753del (p.His585fs) |
| Brugada syndrome (due to SCN5A) |
rs794728912 |
NM_000335.4(SCN5A):c.2533del (p.Val845fs) |
| Brugada syndrome (due to SCN5A) |
rs794728914 |
NM_000335.4(SCN5A):c.2582_2583del (p.Phe861fs) |
| Brugada syndrome (due to SCN5A) |
rs794728924 |
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) |
| Brugada syndrome (due to SCN5A) |
rs863224532 |
NM_000335.4(SCN5A):c.4179C>G (p.Tyr1393Ter) |
| Brugada syndrome (due to SCN5A) |
rs863225273 |
NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) |
| Brugada syndrome (due to SCN5A) |
rs869025517 |
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) |
| Brugada syndrome (due to SCN5A) |
rs869025520 |
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) |
| Brugada syndrome (due to SCN5A) |
rs869025522 |
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) |
| Brugada syndrome (due to SCN5A) |
rs878855292 |
NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) |
| Brugada syndrome (due to SCN5A) |
rs878855296 |
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) |
| Arrhythmogenic right ventricular dysplasia, familial, 2 (due to RYR2) |
rs121918601 |
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) |
| Arrhythmogenic right ventricular dysplasia, familial, 2 (due to RYR2) |
rs121918602 |
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) |
| Arrhythmogenic right ventricular dysplasia, familial, 2 (due to RYR2) |
rs190140598 |
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) |
| Arrhythmogenic right ventricular dysplasia, familial, 2 (due to RYR2) |
rs794728708 |
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) |
| Arrhythmogenic right ventricular dysplasia, familial, 2 (due to RYR2) |
rs794728754 |
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs1064794350 |
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to LMNA) |
rs1114167345 |
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs111517471 |
NM_001005242.3(PKP2):c.2357+1G>A |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs121434420 |
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs121434421 |
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs193922672 |
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs193922673 |
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs193922674 |
NM_001005242.3(PKP2):c.2014-1G>C |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs372827156 |
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397516986 |
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397516989 |
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397517003 |
NM_001005242.3(PKP2):c.1556+1G>A |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397517010 |
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397517012 |
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs727504430 |
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs727504432 |
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs751288871 |
NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs754912778 |
NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs760576804 |
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs766209297 |
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs767987619 |
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs769220833 |
NM_004572.3(PKP2):c.533dup (p.His179fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs772220644 |
NM_004572.3(PKP2):c.837_838del (p.Val280fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs774663443 |
NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs786204388 |
NM_004572.3(PKP2):c.253_256del (p.Glu85fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs786204389 |
NM_001005242.3(PKP2):c.337-2A>T |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs786204392 |
NM_001005242.3(PKP2):c.1170+1G>A |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs786204393 |
NM_004572.3(PKP2):c.1177C>T (p.Gln393Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729098 |
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729122 |
NM_004572.3(PKP2):c.623del (p.Thr208fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729124 |
NM_004572.3(PKP2):c.1125_1132del (p.Phe376fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729127 |
NM_004572.3(PKP2):c.1664del (p.Phe555fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729129 |
NM_004572.3(PKP2):c.1803del (p.Asp601fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729132 |
NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729133 |
NM_004572.3(PKP2):c.1171-2A>G |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729137 |
NM_004572.3(PKP2):c.1643del (p.Gly548fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs1057517903 |
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs121912996 |
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs149701627 |
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs397516915 |
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs397516940 |
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs397516955 |
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs606231294 |
NM_004415.4(DSP):c.939+1G>A |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs727504443 |
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs730880082 |
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs767643821 |
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs770873593 |
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs778178956 |
NM_004415.4(DSP):c.2436+2T>C |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728118 |
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728124 |
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728137 |
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728139 |
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728146 |
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728147 |
NM_004415.4(DSP):c.8156del (p.Pro2719fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs876657638 |
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs886039178 |
NM_004415.4(DSP):c.2437-1G>C |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs886039343 |
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 5 (due to TMEM43) |
rs63750743 |
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 (due to DSC2) |
rs1064793731 |
NM_024422.6(DSC2):c.2250+2T>C |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 (due to DSC2) |
rs145476705 |
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 (due to DSC2) |
rs397514041 |
NM_024422.6(DSC2):c.1430del (p.Thr477fs) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913006 |
NM_001943.5(DSG2):c.146G>A (p.Arg49His) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913007 |
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913008 |
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913011 |
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs193298428 |
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs397514038 |
NM_001943.5(DSG2):c.1880-2A>G |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs397516709 |
NM_001943.5(DSG2):c.523+2T>C |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs750176752 |
NM_001943.5(DSG2):c.690+1G>A |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2|DSG2-AS1) |
rs794728084 |
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs794728086 |
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs794728091 |
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) |
| Arrhythmia (due to KCNQ1) |
rs120074178 |
NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln) |
| Arrhythmia (due to KCNQ1) |
rs120074178 |
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) |
| Arrhythmia (due to KCNQ1) |
rs120074182 |
NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) |
| Arrhythmia (due to KCNQ1) |
rs120074185 |
NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) |
| Arrhythmia (due to KCNQ1) |
rs120074190 |
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) |
| Arrhythmia (due to SCN5A) |
rs137854604 |
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) |
| Arrhythmia (due to SCN5A) |
rs137854613 |
NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) |
| Arrhythmia (due to KCNQ1) |
rs179489 |
NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) |
| Arrhythmia (due to KCNQ1) |
rs199472696 |
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) |
| Arrhythmia (due to KCNQ1) |
rs199472767 |
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) |
| Arrhythmia (due to KCNQ1) |
rs199472794 |
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) |
| Arrhythmia (due to KCNQ1) |
rs199472805 |
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) |
| Arrhythmia (due to SCN5A) |
rs199473072 |
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) |
| Arrhythmia (due to KCNQ1) |
rs199473394 |
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) |
| Arrhythmia (due to KCNH2) |
rs199473428 |
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) |
| Arrhythmia (due to KCNQ1) |
rs199473456 |
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) |
| Arrhythmia (due to SCN5A) |
rs28937318 |
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) |
| Arrhythmia (due to KCNQ1) |
rs397508075 |
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) |
| Arrhythmia (due to KCNQ1) |
rs397508083 |
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) |
| Arrhythmia (due to KCNQ1) |
rs397508085 |
NM_181798.1(KCNQ1):c.910dup (p.Val304fs) |
| Arrhythmia (due to KCNQ1) |
rs397508097 |
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) |
| Arrhythmia (due to KCNQ1) |
rs397508104 |
NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) |
| Arrhythmia (due to KCNQ1) |
rs397508104 |
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) |
| Arrhythmia (due to KCNQ1) |
rs397508111 |
NM_181798.1(KCNQ1):c.96+5G>A |
| Arrhythmia (due to KCNQ1) |
rs397508122 |
NM_181798.1(KCNQ1):c.302+5G>A |
| Arrhythmia (due to KCNQ1) |
rs397508129 |
NM_181798.1(KCNQ1):c.481_499del (p.Val161fs) |
| Arrhythmia (due to SCN5A) |
rs397514450 |
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) |
| Arrhythmia (due to SCN5A) |
rs45514691 |
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) |
| Arrhythmia (due to KCNH2) |
rs748706373 |
NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs) |
| Arrhythmia (due to KCNQ1) |
rs762814879 |
NM_181798.1(KCNQ1):c.96+1G>A |
| Arrhythmia (due to KCNH2) |
rs794728401 |
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) |
| Arrhythmia (due to KCNH2) |
rs794728458 |
NM_172057.2(KCNH2):c.1765dup (p.Glu589fs) |
| Arrhythmia (due to KCNQ1) |
rs794728528 |
NM_181798.1(KCNQ1):c.870+2T>C |
| Arrhythmia (due to SCN5A) |
rs886037903 |
NM_198056.2(SCN5A):c.5356_5357del (p.Leu1786fs) |
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