| Familial hyperinsulinism (due to rs139328569) |
rs139328569 |
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) |
| Familial hyperinsulinism (due to rs139964066) |
rs139964066 |
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) |
| Familial hyperinsulinism (due to rs149331388) |
rs149331388 |
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) |
| Familial hyperinsulinism (due to rs368114790) |
rs368114790 |
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) |
| Familial hyperinsulinism (due to rs541269678) |
rs541269678 |
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) |
| Familial hyperinsulinism (due to rs576684889) |
rs576684889 |
NM_000352.6(ABCC8):c.3400-1G>A |
| Familial hyperinsulinism (due to rs72559716) |
rs72559716 |
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) |
| Familial hyperinsulinism (due to rs750586210) |
rs750586210 |
NM_000352.6(ABCC8):c.1176+2T>C |
| Very long chain acyl-CoA dehydrogenase deficiency (due to rs138834083) |
rs138834083 |
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to rs759775666) |
rs759775666 |
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to rs765390290) |
rs765390290 |
NM_000018.4(ACADVL):c.1183-15A>G |
| Very long chain acyl-CoA dehydrogenase deficiency (due to rs766192888) |
rs766192888 |
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) |
| Usher syndrome (due to rs41303344) |
rs41303344 |
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) |
| Joubert Syndrome (due to rs1270654737) |
rs1270654737 |
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) |
| Joubert Syndrome (due to rs201391050) |
rs201391050 |
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) |
| Joubert Syndrome (due to rs267606641) |
rs267606641 |
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) |
| Joubert Syndrome (due to rs863225147) |
rs863225147 |
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) |
| Polyglandular Autoimmune Syndrome (due to rs1057516272) |
rs1057516272 |
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) |
| Polyglandular Autoimmune Syndrome (due to rs179363889) |
rs179363889 |
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) |
| Sjögren-Larsson Syndrome (due to rs72547561) |
rs72547561 |
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) |
| Sjögren-Larsson Syndrome (due to rs72547562) |
rs72547562 |
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) |
| Sjögren-Larsson Syndrome (due to rs72547568) |
rs72547568 |
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) |
| Sjögren-Larsson Syndrome (due to rs786204741) |
rs786204741 |
NM_000382.3(ALDH3A2):c.471+1del |
| Congenital Disorder of Glycosylation (due to rs794726944) |
rs794726944 |
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) |
| Joubert Syndrome (due to rs750247691) |
rs750247691 |
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) |
| Joubert Syndrome (due to rs753432312) |
rs753432312 |
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) |
| Metachromatic leukodystrophy (due to rs28940894) |
rs28940894 |
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) |
| Metachromatic leukodystrophy (due to rs6151411) |
rs6151411 |
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) |
| Metachromatic Leukodystrophy (due to rs6151429) |
rs6151429 |
NM_000487.6(ARSA):c.*96A>G |
| Metachromatic leukodystrophy (due to rs74315460) |
rs74315460 |
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) |
| Metachromatic leukodystrophy (due to rs74315470) |
rs74315470 |
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) |
| Canavan Disease (due to rs28940279) |
rs28940279 |
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) |
| Canavan Disease (due to rs28940574) |
rs28940574 |
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) |
| Canavan Disease (due to rs761064915) |
rs761064915 |
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) |
| Canavan Disease (due to rs766328537) |
rs766328537 |
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) |
| Citrullinemia type I (due to rs1057517402) |
rs1057517402 |
NM_054012.4(ASS1):c.1127+1G>A |
| Citrullinemia type I (due to rs121908636) |
rs121908636 |
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) |
| Citrullinemia type I (due to rs727503814) |
rs727503814 |
NM_054012.4(ASS1):c.1194-1G>C |
| Citrullinemia type I (due to rs765338121) |
rs765338121 |
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) |
| Citrullinemia type I (due to rs786204648) |
rs786204648 |
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) |
| Achromatopsia (due to rs797045170) |
rs797045170 |
NM_007348.4(ATF6):c.82+5G>T |
| Ataxia-telangiectasia syndrome (due to rs1057516235) |
rs1057516235 |
NM_000051.4(ATM):c.7089+2T>G |
| Ataxia-telangiectasia syndrome (due to rs1131691159) |
rs1131691159 |
NM_000051.4(ATM):c.5177+1G>A |
| Ataxia-telangiectasia syndrome (due to rs1137887) |
rs1137887 |
NM_000051.4(ATM):c.2250G>A (p.Lys750=) |
| Ataxia-telangiectasia syndrome (due to rs139770721) |
rs139770721 |
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) |
| Ataxia-telangiectasia syndrome (due to rs1555069881) |
rs1555069881 |
NM_000051.4(ATM):c.1235+1G>A |
| Ataxia-telangiectasia syndrome (due to rs1555105842) |
rs1555105842 |
NM_000051.4(ATM):c.5319+2T>C |
| Ataxia-telangiectasia syndrome (due to rs2081667850) |
rs2081667850 |
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) |
| Ataxia-telangiectasia syndrome (due to rs2086422796) |
rs2086422796 |
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His) |
| Ataxia-telangiectasia syndrome (due to rs370152402) |
rs370152402 |
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) |
| Ataxia-telangiectasia syndrome (due to rs377349459) |
rs377349459 |
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) |
| Ataxia-telangiectasia syndrome (due to rs397514577) |
rs397514577 |
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) |
| Ataxia-telangiectasia syndrome (due to rs564652222) |
rs564652222 |
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) |
| Ataxia-telangiectasia syndrome (due to rs587779844) |
rs587779844 |
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) |
| Ataxia-telangiectasia syndrome (due to rs587779872) |
rs587779872 |
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) |
| Ataxia-telangiectasia syndrome (due to rs587781511) |
rs587781511 |
NM_000051.4(ATM):c.967A>G (p.Ile323Val) |
| Ataxia-telangiectasia syndrome (due to rs587781894) |
rs587781894 |
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) |
| Ataxia-telangiectasia syndrome (due to rs587782202) |
rs587782202 |
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) |
| Ataxia-telangiectasia syndrome (due to rs587782652) |
rs587782652 |
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) |
| Ataxia-telangiectasia syndrome (due to rs587782719) |
rs587782719 |
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) |
| Ataxia-telangiectasia syndrome (due to rs730881359) |
rs730881359 |
NM_000051.4(ATM):c.1A>G (p.Met1Val) |
| Ataxia-telangiectasia syndrome (due to rs747727055) |
rs747727055 |
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) |
| Ataxia-telangiectasia syndrome (due to rs748634900) |
rs748634900 |
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) |
| Ataxia-telangiectasia syndrome (due to rs750663117) |
rs750663117 |
NM_000051.4(ATM):c.3078-1G>A |
| Ataxia-telangiectasia syndrome (due to rs752135143) |
rs752135143 |
NM_000051.4(ATM):c.331+5G>A |
| Ataxia-telangiectasia syndrome (due to rs753806542) |
rs753806542 |
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) |
| Ataxia-telangiectasia syndrome (due to rs756899044) |
rs756899044 |
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) |
| Ataxia-telangiectasia syndrome (due to rs759373136) |
rs759373136 |
NM_000051.4(ATM):c.5177+5G>A |
| Ataxia-telangiectasia syndrome (due to rs762154857) |
rs762154857 |
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) |
| Ataxia-telangiectasia syndrome (due to rs766351395) |
rs766351395 |
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) |
| Ataxia-telangiectasia syndrome (due to rs769142993) |
rs769142993 |
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) |
| Ataxia-telangiectasia syndrome (due to rs772926890) |
rs772926890 |
NM_000051.4(ATM):c.1607+1G>T |
| Ataxia-telangiectasia syndrome (due to rs773516672) |
rs773516672 |
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) |
| Ataxia-telangiectasia syndrome (due to rs774925473) |
rs774925473 |
NM_000051.4(ATM):c.5763-1050A>G |
| Ataxia-telangiectasia syndrome (due to rs777849257) |
rs777849257 |
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) |
| Ataxia-telangiectasia syndrome (due to rs780905851) |
rs780905851 |
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg) |
| Ataxia-telangiectasia syndrome (due to rs786203054) |
rs786203054 |
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) |
| Ataxia-telangiectasia syndrome (due to rs786203606) |
rs786203606 |
NM_000051.4(ATM):c.2T>C (p.Met1Thr) |
| Ataxia-telangiectasia syndrome (due to rs863224440) |
rs863224440 |
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) |
| Ataxia-telangiectasia syndrome (due to rs863224463) |
rs863224463 |
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) |
| Ataxia-telangiectasia syndrome (due to rs876659365) |
rs876659365 |
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) |
| Ataxia-telangiectasia syndrome (due to rs876659735) |
rs876659735 |
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) |
| Ataxia-telangiectasia syndrome (due to rs876660933) |
rs876660933 |
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) |
| Ataxia-telangiectasia syndrome (due to rs938431501) |
rs938431501 |
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) |
| Joubert Syndrome (due to rs771170000) |
rs771170000 |
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) |
| Bardet-Biedl Syndrome (due to rs1014835928) |
rs1014835928 |
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) |
| Bardet-Biedl Syndrome (due to rs121917778) |
rs121917778 |
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) |
| Bardet-Biedl Syndrome (due to rs200116631) |
rs200116631 |
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) |
| Bardet-Biedl Syndrome (due to rs376894444) |
rs376894444 |
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) |
| Bardet-Biedl Syndrome (due to rs775769424) |
rs775769424 |
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) |
| Bardet-Biedl Syndrome (due to rs778850233) |
rs778850233 |
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) |
| Bardet-Biedl Syndrome (due to rs148374859) |
rs148374859 |
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) |
| Bardet-Biedl Syndrome (due to rs202228478) |
rs202228478 |
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) |
| Bardet-Biedl Syndrome (due to rs786204575) |
rs786204575 |
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) |
| Bardet-Biedl Syndrome (due to rs886042729) |
rs886042729 |
NM_024685.4(BBS10):c.197+1G>T |
| Bardet-Biedl Syndrome (due to rs121918328) |
rs121918328 |
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) |
| Bardet-Biedl Syndrome (due to rs1381368546) |
rs1381368546 |
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) |
| Bardet-Biedl Syndrome (due to rs752202089) |
rs752202089 |
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) |
| Bardet-Biedl Syndrome (due to rs121908176) |
rs121908176 |
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) |
| Bardet-Biedl Syndrome (due to rs1273181642) |
rs1273181642 |
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) |
| Bardet-Biedl Syndrome (due to rs201063733) |
rs201063733 |
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) |
| Bardet-Biedl Syndrome (due to rs778090540) |
rs778090540 |
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) |
| Bardet-Biedl Syndrome (due to rs372822977) |
rs372822977 |
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) |
| Bardet-Biedl Syndrome (due to rs749017489) |
rs749017489 |
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) |
| Bardet-Biedl Syndrome (due to rs775710800) |
rs775710800 |
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) |
| Bardet-Biedl Syndrome (due to rs119466001) |
rs119466001 |
NM_176824.3(BBS7):c.968A>G (p.His323Arg) |
| Bardet-Biedl Syndrome (due to rs119466002) |
rs119466002 |
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) |
| Bardet-Biedl Syndrome (due to rs1233058112) |
rs1233058112 |
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) |
| Bardet-Biedl Syndrome (due to rs775081992) |
rs775081992 |
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) |
| Pseudocholinesterase Deficiency (due to rs104893684) |
rs104893684 |
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) |
| Pseudocholinesterase Deficiency (due to rs115129687) |
rs115129687 |
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) |
| Pseudocholinesterase Deficiency (due to rs121918558) |
rs121918558 |
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) |
| Pseudocholinesterase Deficiency (due to rs1799807) |
rs1799807 |
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) |
| Pseudocholinesterase Deficiency (due to rs28933390) |
rs28933390 |
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) |
| Maple syrup urine disease Type 1A (due to rs182923857) |
rs182923857 |
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) |
| Maple syrup urine disease Type 1A (due to rs373336888) |
rs373336888 |
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) |
| Maple syrup urine disease Type 1A (due to rs398123503) |
rs398123503 |
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) |
| Maple syrup urine disease Type 1A (due to rs762199542) |
rs762199542 |
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) |
| Maple syrup urine disease Type 1B (due to rs398124565) |
rs398124565 |
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) |
| Maple syrup urine disease Type 1B (due to rs398124598) |
rs398124598 |
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) |
| Maple syrup urine disease Type 1B (due to rs727503822) |
rs727503822 |
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) |
| Maple syrup urine disease Type 1B (due to rs756647770) |
rs756647770 |
NM_183050.4(BCKDHB):c.951+1G>A |
| GRACILE syndrome (due to rs1057516954) |
rs1057516954 |
NM_001079866.2(BCS1L):c.460+2T>C |
| GRACILE syndrome (due to rs121908576) |
rs121908576 |
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) |
| GRACILE syndrome (due to rs201454788) |
rs201454788 |
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) |
| GRACILE syndrome (due to rs386833857) |
rs386833857 |
NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) |
| GRACILE syndrome (due to rs550497120) |
rs550497120 |
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) |
| GRACILE syndrome (due to rs779331797) |
rs779331797 |
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) |
| Bloom syndrome (due to rs1057516964) |
rs1057516964 |
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) |
| Bloom syndrome (due to rs1179486581) |
rs1179486581 |
NM_000057.4(BLM):c.1087+1G>A |
| Bloom syndrome (due to rs137853153) |
rs137853153 |
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) |
| Bloom syndrome (due to rs150421256) |
rs150421256 |
NM_000057.4(BLM):c.3875-2A>G |
| Bloom syndrome (due to rs1555424890) |
rs1555424890 |
NM_000057.4(BLM):c.3874+2T>C |
| Bloom syndrome (due to rs1596235791) |
rs1596235791 |
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) |
| Bloom syndrome (due to rs367543019) |
rs367543019 |
NM_000057.4(BLM):c.2488dup (p.Thr830fs) |
| Bloom syndrome (due to rs367543031) |
rs367543031 |
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) |
| Bloom syndrome (due to rs367543036) |
rs367543036 |
NM_000057.4(BLM):c.2074+1G>T |
| Bloom syndrome (due to rs587779884) |
rs587779884 |
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) |
| Bloom syndrome (due to rs745538883) |
rs745538883 |
NM_000057.4(BLM):c.2824-2A>T |
| Bloom syndrome (due to rs747281324) |
rs747281324 |
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) |
| Bloom syndrome (due to rs762354041) |
rs762354041 |
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) |
| Biotinidase deficiency (due to rs104893686) |
rs104893686 |
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) |
| Biotinidase deficiency (due to rs1057516252) |
rs1057516252 |
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) |
| Biotinidase deficiency (due to rs1057520533) |
rs1057520533 |
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) |
| Biotinidase deficiency (due to rs1344607767) |
rs1344607767 |
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) |
| Biotinidase deficiency (due to rs1553653680) |
rs1553653680 |
NM_001370658.1(BTD):c.527del (p.Thr176fs) |
| Biotinidase deficiency (due to rs375712490) |
rs375712490 |
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) |
| Biotinidase deficiency (due to rs397507174) |
rs397507174 |
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) |
| Biotinidase deficiency (due to rs397507175) |
rs397507175 |
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) |
| Biotinidase deficiency (due to rs397507176) |
rs397507176 |
NM_001370658.1(BTD):c.908A>G (p.His303Arg) |
| Biotinidase deficiency (due to rs397514357) |
rs397514357 |
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) |
| Biotinidase deficiency (due to rs397514360) |
rs397514360 |
NM_001370658.1(BTD):c.399G>A (p.Glu133_Val134=) |
| Biotinidase deficiency (due to rs397514367) |
rs397514367 |
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) |
| Biotinidase deficiency (due to rs397514369) |
rs397514369 |
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) |
| Biotinidase deficiency (due to rs397514388) |
rs397514388 |
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) |
| Biotinidase deficiency (due to rs397514398) |
rs397514398 |
NM_001370658.1(BTD):c.992del (p.Thr331fs) |
| Biotinidase deficiency (due to rs397514410) |
rs397514410 |
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) |
| Biotinidase deficiency (due to rs397514416) |
rs397514416 |
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) |
| Biotinidase deficiency (due to rs397514434) |
rs397514434 |
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) |
| Biotinidase deficiency (due to rs398123139) |
rs398123139 |
NM_001370658.1(BTD):c.566G>A (p.Arg189His) |
| Joubert Syndrome (due to rs587777653) |
rs587777653 |
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) |
| Homocystinuria (due to rs863223432) |
rs863223432 |
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) |
| Joubert Syndrome (due to rs201502401) |
rs201502401 |
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) |
| Usher syndrome (due to rs111033270) |
rs111033270 |
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) |
| Cystic fibrosis (due to rs1060503164) |
rs1060503164 |
NM_000492.4(CFTR):c.2908+1G>A |
| Cystic fibrosis (due to rs113993958) |
rs113993958 |
NM_000492.4(CFTR):c.328G>C (p.Asp110His) |
| Cystic fibrosis (due to rs113993959) |
rs113993959 |
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) |
| Cystic fibrosis (due to rs115545701) |
rs115545701 |
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) |
| Cystic fibrosis (due to rs11971167) |
rs11971167 |
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) |
| Cystic fibrosis (due to rs121908746) |
rs121908746 |
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs) |
| Cystic fibrosis (due to rs121908746) |
rs121908746 |
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) |
| Cystic fibrosis (due to rs121908746) |
rs121908746 |
NM_000492.4(CFTR):c.2052del (p.Lys684fs) |
| Cystic fibrosis (due to rs121908746) |
rs121908746 |
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) |
| Cystic fibrosis (due to rs121908752) |
rs121908752 |
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) |
| Cystic fibrosis (due to rs121908753) |
rs121908753 |
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) |
| Cystic fibrosis (due to rs121908755) |
rs121908755 |
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) |
| Cystic fibrosis (due to rs121908757) |
rs121908757 |
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) |
| Cystic fibrosis (due to rs121908760) |
rs121908760 |
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) |
| Cystic fibrosis (due to rs121909005) |
rs121909005 |
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) |
| Cystic fibrosis (due to rs121909006) |
rs121909006 |
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) |
| Cystic fibrosis (due to rs121909011) |
rs121909011 |
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) |
| Cystic fibrosis (due to rs121909013) |
rs121909013 |
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) |
| Cystic fibrosis (due to rs121909041) |
rs121909041 |
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) |
| Cystic fibrosis (due to rs121909047) |
rs121909047 |
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) |
| Cystic fibrosis (due to rs141033578) |
rs141033578 |
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) |
| Cystic fibrosis (due to rs148519623) |
rs148519623 |
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) |
| Cystic fibrosis (due to rs150212784) |
rs150212784 |
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) |
| Cystic fibrosis (due to rs186045772) |
rs186045772 |
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) |
| Cystic fibrosis (due to rs191456345) |
rs191456345 |
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) |
| Cystic fibrosis (due to rs193922520) |
rs193922520 |
NM_000492.4(CFTR):c.3717+5G>A |
| Cystic fibrosis (due to rs193922525) |
rs193922525 |
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) |
| Cystic fibrosis (due to rs200321110) |
rs200321110 |
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) |
| Cystic fibrosis (due to rs200337193) |
rs200337193 |
NM_000492.4(CFTR):c.165-3C>T |
| Cystic fibrosis (due to rs202179988) |
rs202179988 |
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) |
| Cystic fibrosis (due to rs267606723) |
rs267606723 |
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) |
| Cystic fibrosis (due to rs368505753) |
rs368505753 |
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) |
| Cystic fibrosis (due to rs374946172) |
rs374946172 |
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) |
| Cystic fibrosis (due to rs397508201) |
rs397508201 |
NM_000492.4(CFTR):c.1393-2A>G |
| Cystic fibrosis (due to rs397508217) |
rs397508217 |
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro) |
| Cystic fibrosis (due to rs397508256) |
rs397508256 |
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) |
| Cystic fibrosis (due to rs397508328) |
rs397508328 |
NM_000492.4(CFTR):c.1A>G (p.Met1Val) |
| Cystic fibrosis (due to rs397508413) |
rs397508413 |
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) |
| Cystic fibrosis (due to rs397508435) |
rs397508435 |
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) |
| Cystic fibrosis (due to rs397508442) |
rs397508442 |
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) |
| Cystic fibrosis (due to rs397508453) |
rs397508453 |
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) |
| Cystic fibrosis (due to rs397508463) |
rs397508463 |
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) |
| Cystic fibrosis (due to rs397508506) |
rs397508506 |
NM_000492.4(CFTR):c.3140-1G>A |
| Cystic fibrosis (due to rs397508510) |
rs397508510 |
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) |
| Cystic fibrosis (due to rs397508796) |
rs397508796 |
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) |
| Cystic fibrosis (due to rs397508796) |
rs397508796 |
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) |
| Cystic fibrosis (due to rs74503330) |
rs74503330 |
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) |
| Cystic fibrosis (due to rs74551128) |
rs74551128 |
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) |
| Cystic fibrosis (due to rs75039782) |
rs75039782 |
NM_000492.3(CFTR):c.3718-2477C>T |
| Cystic fibrosis (due to rs75527207) |
rs75527207 |
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) |
| Cystic fibrosis (due to rs75541969) |
rs75541969 |
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) |
| Cystic fibrosis (due to rs77834169) |
rs77834169 |
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) |
| Cystic fibrosis (due to rs78655421) |
rs78655421 |
NM_000492.4(CFTR):c.350G>A (p.Arg117His) |
| Cystic fibrosis (due to rs79850223) |
rs79850223 |
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) |
| Cystic fibrosis (due to rs80224560) |
rs80224560 |
NM_000492.4(CFTR):c.2657+5G>A |
| Cystic fibrosis (due to rs80282562) |
rs80282562 |
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) |
| Choroideremia (due to rs132630266) |
rs132630266 |
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) |
| Choroideremia (due to rs776256380) |
rs776256380 |
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) |
| Neuronal Ceroid Lipofuscinosis (due to rs386833704) |
rs386833704 |
NM_001042432.2(CLN3):c.125+5G>A |
| Neuronal Ceroid Lipofuscinosis (due to rs386833720) |
rs386833720 |
NM_001042432.2(CLN3):c.424del (p.Val142fs) |
| Neuronal Ceroid Lipofuscinosis (due to rs386833737) |
rs386833737 |
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) |
| Neuronal Ceroid Lipofuscinosis (due to rs61504484) |
rs61504484 |
NC_000013.11:g.76992067C>A |
| Neuronal Ceroid Lipofuscinosis (due to rs104894060) |
rs104894060 |
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) |
| Neuronal Ceroid Lipofuscinosis (due to rs143730802) |
rs143730802 |
NM_018941.4(CLN8):c.1A>G (p.Met1Val) |
| Neuronal Ceroid Lipofuscinosis (due to rs756267448) |
rs756267448 |
NM_018941.4(CLN8):c.543+1G>T |
| Achromatopsia (due to rs104893614) |
rs104893614 |
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) |
| Achromatopsia (due to rs141386891) |
rs141386891 |
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) |
| Achromatopsia (due to rs147415641) |
rs147415641 |
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) |
| Achromatopsia (due to rs147876778) |
rs147876778 |
NM_019098.4(CNGB3):c.1208G>A |
| Achromatopsia (due to rs200805087) |
rs200805087 |
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) |
| Achromatopsia (due to rs201794629) |
rs201794629 |
NM_019098.5(CNGB3):c.644-1G>C |
| Achromatopsia (due to rs267602029) |
rs267602029 |
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu) |
| Achromatopsia (due to rs768345097) |
rs768345097 |
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) |
| Leigh syndrome (due to rs149718203) |
rs149718203 |
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) |
| Joubert Syndrome (due to rs374144275) |
rs374144275 |
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to rs1057517046) |
rs1057517046 |
NM_001876.4(CPT1A):c.1459-1G>A |
| Carnitine Palmitoyltransferase deficiency 1A (due to rs148059333) |
rs148059333 |
NM_001876.4(CPT1A):c.1163+1G>A |
| Carnitine Palmitoyltransferase deficiency 1A (due to rs189174414) |
rs189174414 |
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) |
| Carnitine Palmitoyltransferase deficiency 1A (due to rs765161206) |
rs765161206 |
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to rs80356775) |
rs80356775 |
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to rs201065226) |
rs201065226 |
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) |
| Carnitine Palmitoyltransferase deficiency 2 (due to rs515726175) |
rs515726175 |
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) |
| Carnitine Palmitoyltransferase deficiency 2 (due to rs515726177) |
rs515726177 |
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) |
| Carnitine Palmitoyltransferase deficiency 2 (due to rs754363068) |
rs754363068 |
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) |
| Congenital Adrenal Hyperplasia (due to rs104894135) |
rs104894135 |
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) |
| Congenital Adrenal Hyperplasia (due to rs104894139) |
rs104894139 |
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) |
| Congenital Adrenal Hyperplasia (due to rs556794126) |
rs556794126 |
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) |
| Congenital Adrenal Hyperplasia (due to rs7755898) |
rs7755898 |
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) |
| Maple syrup urine disease (due to rs121964999) |
rs121964999 |
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) |
| Maple syrup urine disease (due to rs398123660) |
rs398123660 |
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) |
| Maple syrup urine disease (due to rs398123669) |
rs398123669 |
NM_001918.5(DBT):c.51+1G>T |
| Maple syrup urine disease (due to rs398123676) |
rs398123676 |
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) |
| Maple syrup urine disease (due to rs767760099) |
rs767760099 |
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) |
| Maple syrup urine disease (due to rs768389398) |
rs768389398 |
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) |
| Maple syrup urine disease (due to rs770981889) |
rs770981889 |
NM_001918.5(DBT):c.902G>A (p.Arg301His) |
| Dihydrolipoamide Dehydrogenase deficiency (due to rs121964992) |
rs121964992 |
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) |
| Duchenne Muscular Distrophy (due to rs104894797) |
rs104894797 |
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) |
| Duchenne Muscular Distrophy (due to rs1569559849) |
rs1569559849 |
NM_004006.3(DMD):c.5026-2A>G |
| Duchenne Muscular Distrophy (due to rs1603634298) |
rs1603634298 |
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter) |
| Duchenne Muscular Distrophy (due to rs398123827) |
rs398123827 |
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) |
| Duchenne Muscular Distrophy (due to rs398124092) |
rs398124092 |
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) |
| Duchenne Muscular Distrophy (due to rs863224985) |
rs863224985 |
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter) |
| Duchenne Muscular Distrophy (due to rs863224996) |
rs863224996 |
NM_004006.3(DMD):c.358-2A>G |
| Duchenne Muscular Distrophy (due to rs863225009) |
rs863225009 |
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs1057516388) |
rs1057516388 |
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs1057517095) |
rs1057517095 |
NM_000110.4(DPYD):c.2622+1G>A |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs141597515) |
rs141597515 |
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs1801265) |
rs1801265 |
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs1801267) |
rs1801267 |
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs367619008) |
rs367619008 |
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs3918290) |
rs3918290 |
NM_000110.4(DPYD):c.1905+1G>A |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs55886062) |
rs55886062 |
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs67376798) |
rs67376798 |
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs72549303) |
rs72549303 |
NM_000110.4(DPYD):c.1898del (p.Pro633fs) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs72549310) |
rs72549310 |
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs768020954) |
rs768020954 |
NM_000110.4(DPYD):c.3G>A (p.Met1Ile) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to rs78060119) |
rs78060119 |
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter) |
| Familial dysautonomia (due to rs111033171) |
rs111033171 |
NM_003640.5(ELP1):c.2204+6T>C |
| Familial dysautonomia (due to rs376078668) |
rs376078668 |
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) |
| Familial dysautonomia (due to rs571348995) |
rs571348995 |
NM_003640.5(ELP1):c.3572+1G>A |
| Familial dysautonomia (due to rs760774999) |
rs760774999 |
NM_003640.5(ELP1):c.3346+1G>A |
| Glutaric acidemia (due to rs119458969) |
rs119458969 |
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) |
| Glutaric acidemia (due to rs119458971) |
rs119458971 |
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) |
| Glutaric acidemia (due to rs104894678) |
rs104894678 |
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) |
| Glutaric acidemia (due to rs121964954) |
rs121964954 |
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) |
| Glutaric acidemia (due to rs377656387) |
rs377656387 |
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) |
| Glutaric acidemia (due to rs387907170) |
rs387907170 |
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) |
| Factor XI Deficiency (due to rs1057517364) |
rs1057517364 |
NM_000128.4(F11):c.326-1G>A |
| Factor XI Deficiency (due to rs121965063) |
rs121965063 |
NM_000128.4(F11):c.403G>T (p.Glu135Ter) |
| Factor XI Deficiency (due to rs121965064) |
rs121965064 |
NM_000128.4(F11):c.901T>C (p.Phe301Leu) |
| Factor XI Deficiency (due to rs121965069) |
rs121965069 |
NM_000128.4(F11):c.166T>C (p.Cys56Arg) |
| Factor XI Deficiency (due to rs201007090) |
rs201007090 |
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) |
| Factor XI Deficiency (due to rs281875257) |
rs281875257 |
NM_000128.4(F11):c.943G>A (p.Glu315Lys) |
| Factor XI Deficiency (due to rs369650561) |
rs369650561 |
NM_000128.4(F11):c.365G>A (p.Gly122Asp) |
| Factor XI Deficiency (due to rs373297713) |
rs373297713 |
NM_000128.4(F11):c.1716+1G>A |
| Factor XI Deficiency (due to rs375422404) |
rs375422404 |
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) |
| Factor XI Deficiency (due to rs542967227) |
rs542967227 |
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) |
| Factor XI Deficiency (due to rs756908183) |
rs756908183 |
NM_000128.4(F11):c.400C>T (p.Gln134Ter) |
| Factor XI Deficiency (due to rs768409400) |
rs768409400 |
NM_000128.4(F11):c.67C>T (p.Gln23Ter) |
| Factor XI Deficiency (due to rs770505620) |
rs770505620 |
NM_000128.4(F11):c.841C>T (p.Gln281Ter) |
| Tyrosinemia Type I (due to rs121965074) |
rs121965074 |
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) |
| Tyrosinemia Type I (due to rs121965075) |
rs121965075 |
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) |
| Tyrosinemia Type I (due to rs121965076) |
rs121965076 |
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter) |
| Tyrosinemia Type I (due to rs1297118863) |
rs1297118863 |
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) |
| Tyrosinemia Type I (due to rs786204683) |
rs786204683 |
NM_000137.4(FAH):c.192+1G>T |
| Tyrosinemia Type I (due to rs80338894) |
rs80338894 |
NM_000137.4(FAH):c.192G>T (p.Gln64His) |
| Tyrosinemia Type I (due to rs80338895) |
rs80338895 |
NM_000137.4(FAH):c.554-1G>T |
| Tyrosinemia Type I (due to rs80338898) |
rs80338898 |
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) |
| Tyrosinemia Type I (due to rs80338899) |
rs80338899 |
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) |
| Tyrosinemia Type I (due to rs80338901) |
rs80338901 |
NM_000137.4(FAH):c.1062+5G>A |
| Fanconi Anemia (due to rs1060501879) |
rs1060501879 |
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) |
| Fanconi Anemia (due to rs1173704265) |
rs1173704265 |
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) |
| Fanconi Anemia (due to rs1302083447) |
rs1302083447 |
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) |
| Fanconi Anemia (due to rs1448463647) |
rs1448463647 |
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) |
| Fanconi Anemia (due to rs148473140) |
rs148473140 |
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) |
| Fanconi Anemia (due to rs1490352414) |
rs1490352414 |
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) |
| Fanconi Anemia (due to rs149277003) |
rs149277003 |
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) |
| Fanconi Anemia (due to rs149851163) |
rs149851163 |
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) |
| Fanconi Anemia (due to rs182657062) |
rs182657062 |
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) |
| Fanconi Anemia (due to rs372254398) |
rs372254398 |
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) |
| Fanconi Anemia (due to rs555449842) |
rs555449842 |
NM_000135.4(FANCA):c.1827-1G>A |
| Fanconi Anemia (due to rs574034197) |
rs574034197 |
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) |
| Fanconi Anemia (due to rs745882980) |
rs745882980 |
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) |
| Fanconi Anemia (due to rs751572448) |
rs751572448 |
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) |
| Fanconi Anemia (due to rs753063086) |
rs753063086 |
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) |
| Fanconi Anemia (due to rs753700179) |
rs753700179 |
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) |
| Fanconi Anemia (due to rs755546887) |
rs755546887 |
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) |
| Fanconi Anemia (due to rs755922289) |
rs755922289 |
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) |
| Fanconi Anemia (due to rs756140957) |
rs756140957 |
NM_000135.4(FANCA):c.1776+1G>A |
| Fanconi Anemia (due to rs766643461) |
rs766643461 |
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) |
| Fanconi Anemia (due to rs769862233) |
rs769862233 |
NM_000135.4(FANCA):c.3349-1G>A |
| Fanconi Anemia (due to rs773159223) |
rs773159223 |
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) |
| Fanconi Anemia (due to rs104886458) |
rs104886458 |
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) |
| Fanconi Anemia (due to rs121917784) |
rs121917784 |
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) |
| Fanconi Anemia (due to rs377294947) |
rs377294947 |
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) |
| Fanconi Anemia (due to rs774209201) |
rs774209201 |
NM_000136.3(FANCC):c.844-1G>C |
| Fanconi Anemia (due to rs776054094) |
rs776054094 |
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) |
| Fanconi Anemia (due to rs867319477) |
rs867319477 |
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) |
| Fanconi Anemia (due to rs201811817) |
rs201811817 |
NM_001018115.3(FANCD2):c.2715+1G>A |
| Fanconi Anemia (due to rs374328858) |
rs374328858 |
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) |
| Fanconi Anemia (due to rs766567785) |
rs766567785 |
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) |
| Fanconi Anemia (due to rs753272712) |
rs753272712 |
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) |
| Fanconi Anemia (due to rs121434425) |
rs121434425 |
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) |
| Fanconi Anemia (due to rs121434426) |
rs121434426 |
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) |
| Fanconi Anemia (due to rs1829130135) |
rs1829130135 |
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) |
| Fanconi Anemia (due to rs769547477) |
rs769547477 |
NM_004629.2(FANCG):c.1077-2A>G |
| Fanconi Anemia (due to rs769248873) |
rs769248873 |
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) |
| Fanconi Anemia (due to rs1011870043) |
rs1011870043 |
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) |
| Fanconi Anemia (due to rs147021911) |
rs147021911 |
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) |
| Fanconi Anemia (due to rs754297345) |
rs754297345 |
NM_020937.4(FANCM):c.5340+1G>T |
| Leigh syndrome (due to rs267606829) |
rs267606829 |
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) |
| G6PD deficiency (due to rs1000937138) |
rs1000937138 |
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln) |
| G6PD deficiency (due to rs1050828) |
rs1050828 |
NM_000402.4(G6PD):c.292G>A (p.Val98Met) |
| G6PD deficiency (due to rs1050829) |
rs1050829 |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) |
| G6PD deficiency (due to rs1050829) |
rs1050829 |
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) |
| G6PD deficiency (due to rs1057518975) |
rs1057518975 |
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) |
| G6PD deficiency (due to rs1163458456) |
rs1163458456 |
NC_000023.10:g.153774272T>C |
| G6PD deficiency (due to rs1191977862) |
rs1191977862 |
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys) |
| G6PD deficiency (due to rs137852313) |
rs137852313 |
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) |
| G6PD deficiency (due to rs137852314) |
rs137852314 |
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) |
| G6PD deficiency (due to rs137852315) |
rs137852315 |
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) |
| G6PD deficiency (due to rs137852316) |
rs137852316 |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) |
| G6PD deficiency (due to rs137852317) |
rs137852317 |
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) |
| G6PD deficiency (due to rs137852318) |
rs137852318 |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) |
| G6PD deficiency (due to rs137852318) |
rs137852318 |
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr) |
| G6PD deficiency (due to rs137852319) |
rs137852319 |
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) |
| G6PD deficiency (due to rs137852319) |
rs137852319 |
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) |
| G6PD deficiency (due to rs137852320) |
rs137852320 |
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) |
| G6PD deficiency (due to rs137852321) |
rs137852321 |
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) |
| G6PD deficiency (due to rs137852322) |
rs137852322 |
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) |
| G6PD deficiency (due to rs137852322) |
rs137852322 |
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly) |
| G6PD deficiency (due to rs137852323) |
rs137852323 |
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) |
| G6PD deficiency (due to rs137852324) |
rs137852324 |
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) |
| G6PD deficiency (due to rs137852324) |
rs137852324 |
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) |
| G6PD deficiency (due to rs137852324) |
rs137852324 |
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu) |
| G6PD deficiency (due to rs137852325) |
rs137852325 |
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) |
| G6PD deficiency (due to rs137852326) |
rs137852326 |
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) |
| G6PD deficiency (due to rs137852327) |
rs137852327 |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) |
| G6PD deficiency (due to rs137852328) |
rs137852328 |
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) |
| G6PD deficiency (due to rs137852328) |
rs137852328 |
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) |
| G6PD deficiency (due to rs137852329) |
rs137852329 |
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) |
| G6PD deficiency (due to rs137852329) |
rs137852329 |
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) |
| G6PD deficiency (due to rs137852330) |
rs137852330 |
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) |
| G6PD deficiency (due to rs137852330) |
rs137852330 |
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser) |
| G6PD deficiency (due to rs137852331) |
rs137852331 |
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) |
| G6PD deficiency (due to rs137852332) |
rs137852332 |
NM_000402.4(G6PD):c.683G>A (p.Arg228His) |
| G6PD deficiency (due to rs137852332) |
rs137852332 |
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) |
| G6PD deficiency (due to rs137852333) |
rs137852333 |
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) |
| G6PD deficiency (due to rs137852334) |
rs137852334 |
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) |
| G6PD deficiency (due to rs137852335) |
rs137852335 |
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) |
| G6PD deficiency (due to rs137852336) |
rs137852336 |
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) |
| G6PD deficiency (due to rs137852336) |
rs137852336 |
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala) |
| G6PD deficiency (due to rs137852337) |
rs137852337 |
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) |
| G6PD deficiency (due to rs137852337) |
rs137852337 |
NM_001360016.2(G6PD):c.1316G>A (p.Arg439His) |
| G6PD deficiency (due to rs137852339) |
rs137852339 |
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) |
| G6PD deficiency (due to rs137852340) |
rs137852340 |
NM_000402.4(G6PD):c.185A>G (p.His62Arg) |
| G6PD deficiency (due to rs137852341) |
rs137852341 |
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) |
| G6PD deficiency (due to rs137852342) |
rs137852342 |
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) |
| G6PD deficiency (due to rs137852343) |
rs137852343 |
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) |
| G6PD deficiency (due to rs137852344) |
rs137852344 |
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) |
| G6PD deficiency (due to rs137852345) |
rs137852345 |
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) |
| G6PD deficiency (due to rs137852346) |
rs137852346 |
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) |
| G6PD deficiency (due to rs137852347) |
rs137852347 |
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) |
| G6PD deficiency (due to rs137852348) |
rs137852348 |
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) |
| G6PD deficiency (due to rs137852349) |
rs137852349 |
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) |
| G6PD deficiency (due to rs1379306569) |
rs1379306569 |
NC_000023.10:g.153761231G>A | NC_000023.10:g.153761231G>T |
| G6PD deficiency (due to rs138687036) |
rs138687036 |
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys) |
| G6PD deficiency (due to rs1557229502) |
rs1557229502 |
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser) |
| G6PD deficiency (due to rs1557229502) |
rs1557229502 |
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys) |
| G6PD deficiency (due to rs1557229572) |
rs1557229572 |
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) |
| G6PD deficiency (due to rs1557229599) |
rs1557229599 |
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) |
| G6PD deficiency (due to rs1557229670) |
rs1557229670 |
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln) |
| G6PD deficiency (due to rs1557229670) |
rs1557229670 |
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg) |
| G6PD deficiency (due to rs1557229683) |
rs1557229683 |
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) |
| G6PD deficiency (due to rs1557229683) |
rs1557229683 |
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) |
| G6PD deficiency (due to rs1557229854) |
rs1557229854 |
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) |
| G6PD deficiency (due to rs1557230040) |
rs1557230040 |
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly) |
| G6PD deficiency (due to rs1557230040) |
rs1557230040 |
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) |
| G6PD deficiency (due to rs1557230213) |
rs1557230213 |
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp) |
| G6PD deficiency (due to rs1557230626) |
rs1557230626 |
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) |
| G6PD deficiency (due to rs1603411177) |
rs1603411177 |
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) |
| G6PD deficiency (due to rs181277621) |
rs181277621 |
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) |
| G6PD deficiency (due to rs200111236) |
rs200111236 |
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu) |
| G6PD deficiency (due to rs200111236) |
rs200111236 |
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) |
| G6PD deficiency (due to rs2070352108) |
rs2070352108 |
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter) |
| G6PD deficiency (due to rs2070352108) |
rs2070352108 |
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter) |
| G6PD deficiency (due to rs2070355916) |
rs2070355916 |
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val) |
| G6PD deficiency (due to rs2070360793) |
rs2070360793 |
NC_000023.10:g.153761279C>T |
| G6PD deficiency (due to rs2070375134) |
rs2070375134 |
NM_001360016.2(G6PD):c.769C>A (p.Arg257=) |
| G6PD deficiency (due to rs2070375134) |
rs2070375134 |
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) |
| G6PD deficiency (due to rs2070381458) |
rs2070381458 |
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu) |
| G6PD deficiency (due to rs2070404146) |
rs2070404146 |
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) |
| G6PD deficiency (due to rs2070404412) |
rs2070404412 |
NM_001360016.2:c.180_182del |
| G6PD deficiency (due to rs2070404778) |
rs2070404778 |
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp) |
| G6PD deficiency (due to rs2070705276) |
rs2070705276 |
NC_000023.10:g.153774331C>T |
| G6PD deficiency (due to rs2148328873) |
rs2148328873 |
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly) |
| G6PD deficiency (due to rs2148328873) |
rs2148328873 |
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) |
| G6PD deficiency (due to rs2148328996) |
rs2148328996 |
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr) |
| G6PD deficiency (due to rs2148329890) |
rs2148329890 |
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala) |
| G6PD deficiency (due to rs2148329890) |
rs2148329890 |
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) |
| G6PD deficiency (due to rs2148331335) |
rs2148331335 |
NM_001360016.2(G6PD):c.384C>T (p.Leu128=) |
| G6PD deficiency (due to rs2230037) |
rs2230037 |
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) |
| G6PD deficiency (due to rs267606835) |
rs267606835 |
NM_001360016.2(G6PD):c.317C>G (p.Ser106Cys) |
| G6PD deficiency (due to rs267606835) |
rs267606835 |
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe) |
| G6PD deficiency (due to rs267606836) |
rs267606836 |
NM_001360016.2(G6PD):c.544C>T (p.Arg182Trp) |
| G6PD deficiency (due to rs34193178) |
rs34193178 |
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) |
| G6PD deficiency (due to rs370918918) |
rs370918918 |
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) |
| G6PD deficiency (due to rs371489738) |
rs371489738 |
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser) |
| G6PD deficiency (due to rs387906468) |
rs387906468 |
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) |
| G6PD deficiency (due to rs387906468) |
rs387906468 |
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del) |
| G6PD deficiency (due to rs398123544) |
rs398123544 |
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) |
| G6PD deficiency (due to rs398123546) |
rs398123546 |
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) |
| G6PD deficiency (due to rs5030868) |
rs5030868 |
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) |
| G6PD deficiency (due to rs5030869) |
rs5030869 |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) |
| G6PD deficiency (due to rs5030869) |
rs5030869 |
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del) |
| G6PD deficiency (due to rs5030870) |
rs5030870 |
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) |
| G6PD deficiency (due to rs5030870) |
rs5030870 |
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr) |
| G6PD deficiency (due to rs5030872) |
rs5030872 |
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) |
| G6PD deficiency (due to rs587776730) |
rs587776730 |
NC_000023.10:g.153761232_153761255del |
| G6PD deficiency (due to rs587776730) |
rs587776730 |
NM_001360016.2(G6PD):c.981G>A (p.Thr327=) |
| G6PD deficiency (due to rs72554664) |
rs72554664 |
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) |
| G6PD deficiency (due to rs72554664) |
rs72554664 |
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu) |
| G6PD deficiency (due to rs72554665) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) |
| G6PD deficiency (due to rs72554665) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) |
| G6PD deficiency (due to rs72554665) |
rs72554665 |
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) |
| G6PD deficiency (due to rs74575103) |
rs74575103 |
NM_000402.4(G6PD):c.944G>A (p.Arg315His) |
| G6PD deficiency (due to rs76723693) |
rs76723693 |
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) |
| G6PD deficiency (due to rs782090947) |
rs782090947 |
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) |
| G6PD deficiency (due to rs782098548) |
rs782098548 |
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met) |
| G6PD deficiency (due to rs782130334) |
rs782130334 |
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile) |
| G6PD deficiency (due to rs782130334) |
rs782130334 |
NM_001360016.2(G6PD):c.375G>T (p.Met125Ile) |
| G6PD deficiency (due to rs782308266) |
rs782308266 |
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) |
| G6PD deficiency (due to rs782317415) |
rs782317415 |
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) |
| G6PD deficiency (due to rs782317415) |
rs782317415 |
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His) |
| G6PD deficiency (due to rs782322505) |
rs782322505 |
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) |
| G6PD deficiency (due to rs782487723) |
rs782487723 |
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr) |
| G6PD deficiency (due to rs782754619) |
rs782754619 |
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) |
| G6PD deficiency (due to rs782757170) |
rs782757170 |
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) |
| G6PD deficiency (due to rs78365220) |
rs78365220 |
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) |
| G6PD deficiency (due to rs78365220) |
rs78365220 |
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) |
| G6PD deficiency (due to rs78478128) |
rs78478128 |
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) |
| G6PD deficiency (due to rs797043472) |
rs797043472 |
NM_001360016.2(G6PD):c.34G>A (p.Val12Met) |
| G6PD deficiency (due to rs797043472) |
rs797043472 |
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu) |
| G6PD deficiency (due to rs868950643) |
rs868950643 |
NM_001360016.2(G6PD):c.989G>A (p.Arg330His) |
| G6PD deficiency (due to rs979416826) |
rs979416826 |
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) |
| Pompe Disease (due to rs1057516341) |
rs1057516341 |
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) |
| Pompe Disease (due to rs121907942) |
rs121907942 |
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) |
| Pompe Disease (due to rs1245412108) |
rs1245412108 |
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) |
| Pompe Disease (due to rs148842275) |
rs148842275 |
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) |
| Pompe Disease (due to rs1555599960) |
rs1555599960 |
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) |
| Pompe Disease (due to rs1555600050) |
rs1555600050 |
NM_000152.5(GAA):c.1076-1G>A |
| Pompe Disease (due to rs200856561) |
rs200856561 |
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) |
| Pompe Disease (due to rs201185475) |
rs201185475 |
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) |
| Pompe Disease (due to rs202095215) |
rs202095215 |
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) |
| Pompe Disease (due to rs2039042313) |
rs2039042313 |
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) |
| Pompe Disease (due to rs369532274) |
rs369532274 |
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) |
| Pompe Disease (due to rs375470378) |
rs375470378 |
NM_000152.5(GAA):c.1552-3C>G |
| Pompe Disease (due to rs386834236) |
rs386834236 |
NM_000152.5(GAA):c.-32-13T>G |
| Pompe Disease (due to rs753269119) |
rs753269119 |
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) |
| Pompe Disease (due to rs762260678) |
rs762260678 |
NM_000152.5(GAA):c.1076-22T>G |
| Pompe Disease (due to rs763359208) |
rs763359208 |
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) |
| Pompe Disease (due to rs766074609) |
rs766074609 |
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) |
| Pompe Disease (due to rs766680292) |
rs766680292 |
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) |
| Pompe Disease (due to rs776325453) |
rs776325453 |
NM_000152.5(GAA):c.1888+1G>A |
| Pompe Disease (due to rs786204645) |
rs786204645 |
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) |
| Galactosylceramide beta-galactosidase deficiency (due to rs375867319) |
rs375867319 |
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) |
| Galactosylceramide beta-galactosidase deficiency (due to rs759511006) |
rs759511006 |
NM_000153.4(GALC):c.621+1G>A |
| Galactosylceramide beta-galactosidase deficiency (due to rs761550284) |
rs761550284 |
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) |
| Galactosylceramide beta-galactosidase deficiency (due to rs886039569) |
rs886039569 |
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) |
| Gaucher Disease (due to rs765633380) |
rs765633380 |
NM_000157.4(GBA):c.970C>T (p.Arg324Cys) |
| Gaucher Disease (due to rs74500255) |
rs74500255 |
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) |
| Gaucher Disease (due to rs75822236) |
rs75822236 |
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) |
| Gaucher Disease (due to rs76763715) |
rs76763715 |
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) |
| Gaucher Disease (due to rs77369218) |
rs77369218 |
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) |
| Gaucher Disease (due to rs80356769) |
rs80356769 |
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) |
| Gaucher Disease (due to rs80356771) |
rs80356771 |
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) |
| Gaucher Disease (due to rs80356772) |
rs80356772 |
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) |
| Deafness (Keratitis-ichthyosis) (due to rs1801002) |
rs1801002 |
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) |
| Inclusion Body Myopathy (due to rs28937594) |
rs28937594 |
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) |
| Mucolipidosis Type II (due to rs200646278) |
rs200646278 |
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) |
| Mucolipidosis Type II (due to rs281865001) |
rs281865001 |
NM_024312.5(GNPTAB):c.2715+2T>G |
| Mucolipidosis Type II (due to rs281865009) |
rs281865009 |
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) |
| Mucolipidosis Type II (due to rs281865031) |
rs281865031 |
NM_024312.5(GNPTAB):c.2715+1G>A |
| Primary Hyperoxaluria type II (due to rs180177307) |
rs180177307 |
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) |
| Primary Hyperoxaluria type II (due to rs180177314) |
rs180177314 |
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) |
| Primary Hyperoxaluria type II (due to rs180177316) |
rs180177316 |
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) |
| Acute fatty liver (due to rs137852769) |
rs137852769 |
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) |
| Beta Thalassemia & related hemoglobinopathies (due to rs11549407) |
rs11549407 |
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to rs1554917888) |
rs1554917888 |
NM_000518.5(HBB):c.216del (p.Phe72fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs1554917888) |
rs1554917888 |
NM_000518.5(HBB):c.216dup (p.Ser73Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to rs1847587392) |
rs1847587392 |
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs193922552) |
rs193922552 |
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) |
| Beta Thalassemia & related hemoglobinopathies (due to rs193922560) |
rs193922560 |
NM_000518.5(HBB):c.316-70C>G |
| Beta Thalassemia & related hemoglobinopathies (due to rs281864519) |
rs281864519 |
NM_000518.5(HBB):c.18_19del (p.Glu7fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs33914668) |
rs33914668 |
NM_000518.5(HBB):c.316-2A>C |
| Beta Thalassemia & related hemoglobinopathies (due to rs33914668) |
rs33914668 |
NM_000518.5(HBB):c.316-2A>G |
| Beta Thalassemia & related hemoglobinopathies (due to rs33915217) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>A |
| Beta Thalassemia & related hemoglobinopathies (due to rs33915217) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>C |
| Beta Thalassemia & related hemoglobinopathies (due to rs33915217) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>T |
| Beta Thalassemia & related hemoglobinopathies (due to rs33931746) |
rs33931746 |
NM_000518.5(HBB):c.-78A>C |
| Beta Thalassemia & related hemoglobinopathies (due to rs33931746) |
rs33931746 |
NM_000518.5(HBB):c.-78A>G |
| Beta Thalassemia & related hemoglobinopathies (due to rs33944208) |
rs33944208 |
NM_000518.5(HBB):c.-138C>A |
| Beta Thalassemia & related hemoglobinopathies (due to rs33944208) |
rs33944208 |
NM_000518.5(HBB):c.-138C>T |
| Beta Thalassemia & related hemoglobinopathies (due to rs33946267) |
rs33946267 |
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) |
| Beta Thalassemia & related hemoglobinopathies (due to rs33950507) |
rs33950507 |
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to rs33951465) |
rs33951465 |
NM_000518.5(HBB):c.75T>A (p.Gly25=) |
| Beta Thalassemia & related hemoglobinopathies (due to rs33952266) |
rs33952266 |
NM_000518.5(HBB):c.316-1G>A |
| Beta Thalassemia & related hemoglobinopathies (due to rs33952266) |
rs33952266 |
NM_000518.5(HBB):c.316-1G>C |
| Beta Thalassemia & related hemoglobinopathies (due to rs33952266) |
rs33952266 |
NM_000518.5(HBB):c.316-1G>T |
| Beta Thalassemia & related hemoglobinopathies (due to rs33971440) |
rs33971440 |
NM_000518.5(HBB):c.92+1G>A |
| Beta Thalassemia & related hemoglobinopathies (due to rs33971440) |
rs33971440 |
NM_000518.5(HBB):c.92+1G>T |
| Beta Thalassemia & related hemoglobinopathies (due to rs33979901) |
rs33979901 |
NM_000518.5(HBB):c.129del (p.Phe43fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs33979901) |
rs33979901 |
NM_000518.5(HBB):c.129dup (p.Glu44Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to rs34451549) |
rs34451549 |
NM_000518.5(HBB):c.316-197C>T |
| Beta Thalassemia & related hemoglobinopathies (due to rs34598529) |
rs34598529 |
NM_000518.5(HBB):c.-79A>G |
| Beta Thalassemia & related hemoglobinopathies (due to rs34690599) |
rs34690599 |
NM_000518.5(HBB):c.316-106C>G |
| Beta Thalassemia & related hemoglobinopathies (due to rs35004220) |
rs35004220 |
NM_000518.5(HBB):c.93-21G>A |
| Beta Thalassemia & related hemoglobinopathies (due to rs35497102) |
rs35497102 |
NM_000518.5(HBB):c.25_26del (p.Lys9fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs35662066) |
rs35662066 |
NM_000518.5(HBB):c.51del (p.Lys18fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs35699606) |
rs35699606 |
NM_000518.5(HBB):c.27dup (p.Ser10fs) |
| Beta Thalassemia & related hemoglobinopathies (due to rs35724775) |
rs35724775 |
NM_000518.5(HBB):c.92+6T>C |
| Beta Thalassemia & related hemoglobinopathies (due to rs80356821) |
rs80356821 |
NM_000518.5(HBB):c.126_129del (p.Phe42fs) |
| Alkaptonuria (due to rs28941783) |
rs28941783 |
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) |
| Alkaptonuria (due to rs397515346) |
rs397515346 |
NM_000187.4(HGD):c.457dup (p.Asp153fs) |
| Mucopolysaccharidosis (due to rs121908285) |
rs121908285 |
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) |
| Primary Hyperoxaluria type III (due to rs185803104) |
rs185803104 |
NM_138413.4(HOGA1):c.700+5G>T |
| D-Bifunctional Protein Deficiency (due to rs773305477) |
rs773305477 |
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) |
| Congenital Adrenal Hyperplasia (due to rs80358221) |
rs80358221 |
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) |
| Leigh syndrome (due to rs373436822) |
rs373436822 |
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) |
| Mucopolysaccharidosis (due to rs121965019) |
rs121965019 |
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) |
| Joubert Syndrome (due to rs587777079) |
rs587777079 |
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) |
| Joubert Syndrome (due to rs771866500) |
rs771866500 |
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) |
| Joubert Syndrome (due to rs863225201) |
rs863225201 |
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) |
| Nemaline Myopathy (due to rs367579275) |
rs367579275 |
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs141789403) |
rs141789403 |
NM_198129.4(LAMA3):c.8044-1G>T |
| Herlitz Junctional Epidermolysis Bullosa (due to rs768415785) |
rs768415785 |
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs774133746) |
rs774133746 |
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs759518184) |
rs759518184 |
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs80356680) |
rs80356680 |
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs80356681) |
rs80356681 |
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs80356682) |
rs80356682 |
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs201307156) |
rs201307156 |
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs753268823) |
rs753268823 |
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to rs759509443) |
rs759509443 |
NM_005562.3(LAMC2):c.268+1G>A |
| Herlitz Junctional Epidermolysis Bullosa (due to rs80356683) |
rs80356683 |
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) |
| Familial Mediterranean fever (due to rs104895079) |
rs104895079 |
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) |
| Familial Mediterranean fever (due to rs104895081) |
rs104895081 |
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) |
| Familial Mediterranean fever (due to rs104895085) |
rs104895085 |
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) |
| Familial Mediterranean fever (due to rs104895097) |
rs104895097 |
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) |
| Familial Mediterranean fever (due to rs11466045) |
rs11466045 |
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) |
| Familial Mediterranean fever (due to rs28940578) |
rs28940578 |
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) |
| Familial Mediterranean fever (due to rs28940580) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) |
| Familial Mediterranean fever (due to rs28940580) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) |
| Neuronal Ceroid Lipofuscinosis (due to rs267607235) |
rs267607235 |
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) |
| Neuronal Ceroid Lipofuscinosis (due to rs559155109) |
rs559155109 |
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) |
| Bardet-Biedl Syndrome (due to rs1297985227) |
rs1297985227 |
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) |
| Bardet-Biedl Syndrome (due to rs200865108) |
rs200865108 |
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) |
| Joubert Syndrome (due to rs386834048) |
rs386834048 |
NM_017777.4(MKS1):c.417G>A (p.Glu139=) |
| Methylmalonic Acidemia (due to rs796051992) |
rs796051992 |
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) |
| Methylmalonic Acidemia (due to rs199971687) |
rs199971687 |
NM_052845.4(MMAB):c.291-1G>A |
| Methylmalonic Acidemia (due to rs763935916) |
rs763935916 |
NM_052845.4(MMAB):c.197-1G>T |
| Methylmalonic Acidemia (due to rs121918248) |
rs121918248 |
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) |
| Methylmalonic Acidemia (due to rs760782399) |
rs760782399 |
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) |
| Methylmalonic Acidemia (due to rs761525156) |
rs761525156 |
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) |
| Methylmalonic Acidemia (due to rs764173488) |
rs764173488 |
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) |
| Methylmalonic Acidemia (due to rs779990936) |
rs779990936 |
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) |
| Methylmalonic Acidemia (due to rs780068818) |
rs780068818 |
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) |
| Methylmalonic Acidemia (due to rs796052006) |
rs796052006 |
NM_000255.4(MMUT):c.753+2T>A |
| Methylmalonic Acidemia (due to rs887126161) |
rs887126161 |
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) |
| Leigh syndrome (due to rs199476118) |
rs199476118 |
NC_012920.1:m.3460G>A |
| Leigh syndrome (due to rs200911567) |
rs200911567 |
NC_012920.1:m.11984T>C |
| Leigh syndrome (due to rs199476104) |
rs199476104 |
NC_012920.1:m.14484T>C |
| Leigh syndrome (due to rs201431517) |
rs201431517 |
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) |
| Homocysteinemia (due to rs138189536) |
rs138189536 |
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) |
| Homocysteinemia (due to rs543016186) |
rs543016186 |
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) |
| Mucopolysaccharidosis (due to rs104894597) |
rs104894597 |
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) |
| Leigh syndrome (due to rs772294726) |
rs772294726 |
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) |
| Leigh syndrome (due to rs200756131) |
rs200756131 |
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val) |
| Leigh syndrome (due to rs376281345) |
rs376281345 |
NM_002495.4(NDUFS4):c.99-1G>A |
| Leigh syndrome (due to rs201992354) |
rs201992354 |
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) |
| Nemaline Myopathy (due to rs201553266) |
rs201553266 |
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) |
| Nemaline Myopathy (due to rs555582398) |
rs555582398 |
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) |
| Nemaline Myopathy (due to rs746999970) |
rs746999970 |
NM_001164508.2(NEB):c.3879+1G>A |
| Nemaline Myopathy (due to rs750900690) |
rs750900690 |
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) |
| Nemaline Myopathy (due to rs756363951) |
rs756363951 |
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) |
| Nemaline Myopathy (due to rs760200697) |
rs760200697 |
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) |
| Nemaline Myopathy (due to rs760935667) |
rs760935667 |
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) |
| Niemann-Pick disease (due to rs139751448) |
rs139751448 |
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) |
| Niemann-Pick disease (due to rs143124972) |
rs143124972 |
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) |
| Niemann-Pick disease (due to rs190298665) |
rs190298665 |
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) |
| Niemann-Pick disease (due to rs28942107) |
rs28942107 |
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) |
| Niemann-Pick disease (due to rs28942108) |
rs28942108 |
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) |
| Niemann-Pick disease (due to rs372030650) |
rs372030650 |
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) |
| Niemann-Pick disease (due to rs550562774) |
rs550562774 |
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) |
| Niemann-Pick disease (due to rs758829443) |
rs758829443 |
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) |
| Niemann-Pick disease (due to rs781261962) |
rs781261962 |
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) |
| Niemann-Pick disease (due to rs786204512) |
rs786204512 |
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) |
| Niemann-Pick disease (due to rs80358258) |
rs80358258 |
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) |
| Usher syndrome type 1F (due to rs111033260) |
rs111033260 |
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) |
| Achromatopsia (due to rs757622521) |
rs757622521 |
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) |
| Zellweger Syndrome Spectrum (due to rs1057517518) |
rs1057517518 |
NM_000466.3(PEX1):c.3208-1G>A |
| Zellweger Syndrome Spectrum (due to rs61750420) |
rs61750420 |
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) |
| Zellweger Syndrome Spectrum (due to rs763459576) |
rs763459576 |
NM_000287.4(PEX6):c.1233+1G>A |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to rs121909151) |
rs121909151 |
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to rs121909153) |
rs121909153 |
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to rs763514968) |
rs763514968 |
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to rs764924345) |
rs764924345 |
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) |
| Joubert Syndrome (due to rs17089782) |
rs17089782 |
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1057516345) |
rs1057516345 |
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1057516588) |
rs1057516588 |
NM_138694.4(PKHD1):c.7350+1G>T |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1057516804) |
rs1057516804 |
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1210846081) |
rs1210846081 |
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1295732689) |
rs1295732689 |
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1350620976) |
rs1350620976 |
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs137852944) |
rs137852944 |
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs137852947) |
rs137852947 |
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs137852949) |
rs137852949 |
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs137852950) |
rs137852950 |
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs148617572) |
rs148617572 |
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs149798764) |
rs149798764 |
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs1554218666) |
rs1554218666 |
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs200391019) |
rs200391019 |
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs200511261) |
rs200511261 |
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs376040501) |
rs376040501 |
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs376987651) |
rs376987651 |
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs398124495) |
rs398124495 |
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs398124498) |
rs398124498 |
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs398124500) |
rs398124500 |
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs751084512) |
rs751084512 |
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs757099749) |
rs757099749 |
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs757946548) |
rs757946548 |
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs760426769) |
rs760426769 |
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs770494581) |
rs770494581 |
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs770522674) |
rs770522674 |
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs774050795) |
rs774050795 |
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs774290802) |
rs774290802 |
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs775511838) |
rs775511838 |
NM_138694.4(PKHD1):c.53-1G>A |
| Autosomal Recessive Polycystic Kidney Disease (due to rs780898021) |
rs780898021 |
NM_138694.4(PKHD1):c.1836+1G>A |
| Autosomal Recessive Polycystic Kidney Disease (due to rs781368899) |
rs781368899 |
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs786204749) |
rs786204749 |
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to rs886061616) |
rs886061616 |
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) |
| Congenital Disorder of Glycosylation type 1A (due to rs28936415) |
rs28936415 |
NM_000303.3(PMM2):c.422G>A (p.Arg141His) |
| Congenital Adrenal Hyperplasia (due to rs28931607) |
rs28931607 |
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr) |
| Joubert Syndrome (due to rs754404879) |
rs754404879 |
NM_015156.4(RCOR1):c.446-3C>T |
| Joubert Syndrome (due to rs121918199) |
rs121918199 |
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) |
| Joubert Syndrome (due to rs121918203) |
rs121918203 |
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) |
| Joubert Syndrome (due to rs121918204) |
rs121918204 |
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) |
| Joubert Syndrome (due to rs61747071) |
rs61747071 |
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) |
| ARSACS (due to rs281865118) |
rs281865118 |
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) |
| Alpha-1-antitrypsin deficiency (due to rs112661131) |
rs112661131 |
NM_000295.5(SERPINA1):c.646+2T>C |
| Alpha-1-antitrypsin deficiency (due to rs199422211) |
rs199422211 |
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) |
| Alpha-1-antitrypsin deficiency (due to rs199422213) |
rs199422213 |
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) |
| Alpha-1-antitrypsin deficiency (due to rs28929474) |
rs28929474 |
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) |
| Alpha-1-antitrypsin deficiency (due to rs28931569) |
rs28931569 |
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) |
| Alpha-1-antitrypsin deficiency (due to rs28931570) |
rs28931570 |
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) |
| Alpha-1-antitrypsin deficiency (due to rs751235320) |
rs751235320 |
NM_000295.5(SERPINA1):c.646+1G>T |
| Alpha-1-antitrypsin deficiency (due to rs775982338) |
rs775982338 |
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) |
| Limb-Girdle Muscular Dystrophy Type 2D (due to rs28933693) |
rs28933693 |
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) |
| Beta-Sacroglycanopathy (due to rs104893871) |
rs104893871 |
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) |
| Beta-Sacroglycanopathy (due to rs150518260) |
rs150518260 |
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) |
| Mucopolysaccharidosis (due to rs144143780) |
rs144143780 |
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs1057516262) |
rs1057516262 |
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs121908429) |
rs121908429 |
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs199747285) |
rs199747285 |
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs606231229) |
rs606231229 |
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs762730861) |
rs762730861 |
NM_001365088.1(SLC12A6):c.1118+1G>A |
| Agenesis of the corpus callosum with peripheral neuropathy (due to rs768514327) |
rs768514327 |
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) |
| Salla disease (due to rs1057516910) |
rs1057516910 |
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) |
| Salla disease (due to rs201284672) |
rs201284672 |
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) |
| Salla disease (due to rs386833989) |
rs386833989 |
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) |
| Salla disease (due to rs386833990) |
rs386833990 |
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) |
| Salla disease (due to rs727504157) |
rs727504157 |
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) |
| Salla disease (due to rs769235753) |
rs769235753 |
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) |
| Salla disease (due to rs80338794) |
rs80338794 |
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) |
| Primary Carnitine Deficiency (due to rs114269482) |
rs114269482 |
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) |
| Primary Carnitine Deficiency (due to rs185551386) |
rs185551386 |
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) |
| Primary Carnitine Deficiency (due to rs267607054) |
rs267607054 |
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) |
| Primary Carnitine Deficiency (due to rs28383481) |
rs28383481 |
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) |
| Primary Carnitine Deficiency (due to rs386134210) |
rs386134210 |
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) |
| Primary Carnitine Deficiency (due to rs72552725) |
rs72552725 |
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) |
| Primary Carnitine Deficiency (due to rs72552734) |
rs72552734 |
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) |
| Primary Carnitine Deficiency (due to rs727504159) |
rs727504159 |
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) |
| Citrullinemia type II (due to rs80338717) |
rs80338717 |
NM_014251.3(SLC25A13):c.615+5G>A |
| Citrullinemia type II (due to rs80338722) |
rs80338722 |
NM_014251.3(SLC25A13):c.1177+1G>A |
| Citrullinemia type II (due to rs80338729) |
rs80338729 |
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) |
| Diastrophic Dysplasia (due to rs104893915) |
rs104893915 |
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) |
| Achondrogenesis (due to rs104893916) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Diastrophic Dysplasia (due to rs104893916) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Achondrogenesis (due to rs104893918) |
rs104893918 |
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) |
| Achondrogenesis (due to rs104893919) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Diastrophic Dysplasia (due to rs104893919) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Pendred syndrome (due to rs1057516988) |
rs1057516988 |
NM_000441.2(SLC26A4):c.416-1G>A |
| Pendred syndrome (due to rs111033244) |
rs111033244 |
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) |
| Pendred syndrome (due to rs376653349) |
rs376653349 |
NM_000441.2(SLC26A4):c.1341+1G>C |
| Pendred syndrome (due to rs397516411) |
rs397516411 |
NM_000441.2(SLC26A4):c.-3-2A>G |
| Pendred syndrome (due to rs542079779) |
rs542079779 |
NM_000441.2(SLC26A4):c.2319+1G>A |
| Pendred syndrome (due to rs778901860) |
rs778901860 |
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) |
| Pendred syndrome (due to rs786204730) |
rs786204730 |
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) |
| Pendred syndrome (due to rs912147281) |
rs912147281 |
NM_000441.2(SLC26A4):c.918+2T>C |
| Fanconi Anemia (due to rs760126773) |
rs760126773 |
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) |
| Congenital Disorder of Glycosylation (due to rs398124401) |
rs398124401 |
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) |
| Leigh syndrome (due to rs147816470) |
rs147816470 |
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) |
| Leigh syndrome (due to rs782623477) |
rs782623477 |
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) |
| Leigh syndrome (due to rs863224926) |
rs863224926 |
NM_003172.4(SURF1):c.106+1G>C |
| Joubert Syndrome (due to rs187433682) |
rs187433682 |
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) |
| Joubert Syndrome (due to rs755459875) |
rs755459875 |
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) |
| Joubert Syndrome (due to rs745704336) |
rs745704336 |
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) |
| Bardet-Biedl Syndrome (due to rs751375244) |
rs751375244 |
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) |
| Bardet-Biedl Syndrome (due to rs111033570) |
rs111033570 |
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) |
| Bardet-Biedl Syndrome (due to rs119103286) |
rs119103286 |
NM_144596.4(TTC8):c.489G>A (p.Thr163=) |
| Oculocutaneous Albinism (due to rs104894317) |
rs104894317 |
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) |
| Usher syndrome (due to rs151045328) |
rs151045328 |
NM_153676.4(USH1C):c.216G>A (p.Val72=) |
| Usher syndrome (due to rs111033280) |
rs111033280 |
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) |
| Usher syndrome (due to rs111033518) |
rs111033518 |
NM_206933.4(USH2A):c.12295-3T>A |
| Usher syndrome (due to rs121912600) |
rs121912600 |
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) |
| Usher syndrome (due to rs142898216) |
rs142898216 |
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) |
| Usher syndrome (due to rs148660051) |
rs148660051 |
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) |
| Usher syndrome (due to rs369522997) |
rs369522997 |
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) |
| Usher syndrome (due to rs371777049) |
rs371777049 |
NM_206933.4(USH2A):c.908G>A (p.Arg303His) |
| Usher syndrome (due to rs372347027) |
rs372347027 |
NM_206933.4(USH2A):c.8682-9A>G |
| Usher syndrome (due to rs375668376) |
rs375668376 |
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) |
| Usher syndrome (due to rs751111524) |
rs751111524 |
NM_206933.4(USH2A):c.9571-2A>G |
| Usher syndrome (due to rs757676723) |
rs757676723 |
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) |
| Usher syndrome (due to rs759494205) |
rs759494205 |
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) |
| Usher syndrome (due to rs770553471) |
rs770553471 |
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) |
| Usher syndrome (due to rs780308389) |
rs780308389 |
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) |
| Usher syndrome (due to rs869312182) |
rs869312182 |
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) |
| Cohen syndrome (due to rs1057517029) |
rs1057517029 |
NM_152564.5(VPS13B):c.147+1G>A |
| Cohen syndrome (due to rs120074152) |
rs120074152 |
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) |
| Cohen syndrome (due to rs140353201) |
rs140353201 |
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) |
| Cohen syndrome (due to rs146960401) |
rs146960401 |
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) |
| Cohen syndrome (due to rs180177365) |
rs180177365 |
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) |
| Cohen syndrome (due to rs372327659) |
rs372327659 |
NM_152564.5(VPS13B):c.11746-1G>A |
| Cohen syndrome (due to rs386834086) |
rs386834086 |
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) |
| Cohen syndrome (due to rs386834093) |
rs386834093 |
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) |
| Cohen syndrome (due to rs386834106) |
rs386834106 |
NM_152564.5(VPS13B):c.7429+1G>A |
| Cohen syndrome (due to rs386834110) |
rs386834110 |
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) |
| Cohen syndrome (due to rs386834113) |
rs386834113 |
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) |
| Cohen syndrome (due to rs542757501) |
rs542757501 |
NM_152564.5(VPS13B):c.8361+1G>A |
| Cohen syndrome (due to rs761273297) |
rs761273297 |
NM_152564.5(VPS13B):c.4949+2T>C |
| Cohen syndrome (due to rs763909903) |
rs763909903 |
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) |
| Cohen syndrome (due to rs765998879) |
rs765998879 |
NM_152564.5(VPS13B):c.4224+647T>A |
| Cohen syndrome (due to rs767858119) |
rs767858119 |
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) |
| Cohen syndrome (due to rs777593389) |
rs777593389 |
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) |
| Cohen syndrome (due to rs941969577) |
rs941969577 |
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) |
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