心臓病の保因者スクリーニング

遺伝子検査で選択された 2,590 個のバリアント
心臓病の保因者スクリーニング

Condition	Markers	Description
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)

Q1/2025 にリストを拡張する予定です。新しいサンプルを必要とせずに結果が更新されます。

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