| 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) |
United States (USD)
Singapore (SGD)
Thailand (THB)
Australia (AUD)
European Country (EUR)
Hong Kong (HKD)
India (USD)
Indonesia (IDR)
Iran (USD)
Iraq (USD)
Japan (JPY)
Myanmar (USD)
Oman (USD)
Qatar (USD)
Saudi Arabia (USD)
South Korea (USD)
Switzerland (CHF)
Taiwan (USD)
Turkey (USD)
UAE (USD)
United Kingdom (GBP)
African Country (USD)
International (USD)
