NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
rs0 |
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
rs0 |
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984 |
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879 |
NM_000304.4(PMP22):c.179-13C>G
|
rs0 |
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1])
|
rs0 |
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
|
rs1555565234 |
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638 |
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
rs0 |
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs0 |
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
|
rs0 |
NM_000371.3(TTR):c.280G>C (p.Asp94His)
|
rs730881164 |
NM_000371.3(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435 |
NM_000371.3(TTR):c.368G>A (p.Arg123His)
|
rs148538950 |
NM_000371.3(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030 |
NM_000371.3(TTR):c.386C>T (p.Ala129Val)
|
rs121918092 |
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322 |
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095 |
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
|
rs0 |
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
rs0 |
NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup)
|
rs746688326 |
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
|
rs0 |
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
|
rs0 |
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099 |
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
|
rs0 |
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540 |
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
rs1170786711 |
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492 |
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212 |
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
|
rs0 |
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663 |
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
|
rs0 |
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323 |
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
|
rs0 |
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
|
rs0 |
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564 |
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
rs0 |
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679 |
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
|
rs0 |
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605 |
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
rs0 |
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
NM_001136473.1(LITAF):c.*117C>T
|
rs748017885 |
NM_001136473.1(LITAF):c.*118G>A
|
rs864622744 |
NM_001136473.1(LITAF):c.*51G>A
|
rs780788687 |
NM_001136473.1(LITAF):c.*69G>A
|
rs121908615 |
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
|
rs0 |
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454 |
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
|
rs0 |
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647 |
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990 |
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370 |
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
|
rs0 |
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
|
rs0 |
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
rs0 |
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
rs0 |
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
rs0 |
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
|
rs0 |
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs0 |
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
|
rs0 |
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs0 |
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
rs0 |
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
rs0 |
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
|
rs0 |
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs0 |
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
rs0 |
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
rs0 |
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
|
rs0 |
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
|
rs0 |
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202 |
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
|
rs0 |
NM_001365951.3(KIF1B):c.959-16T>A
|
rs0 |
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695 |
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
rs0 |
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
|
rs0 |
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
|
rs0 |
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
rs0 |
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
rs0 |
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
|
rs0 |
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
|
rs0 |
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
|
rs0 |
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
|
rs0 |
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs0 |
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405 |
NM_001540.5(HSPB1):c.-15G>A
|
rs756260929 |
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436 |
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
|
rs777201941 |
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
rs0 |
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
rs780988351 |
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768 |
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
|
rs0 |
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219 |
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005 |
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568 |
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306 |
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772 |
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394 |
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726 |
NM_001605.2(AARS1):c.1108A>G (p.Met370Val)
|
rs199976742 |
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg)
|
rs369135192 |
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234 |
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn)
|
rs1567605658 |
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp)
|
rs377163632 |
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser)
|
rs371595630 |
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885 |
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804 |
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu)
|
rs150873930 |
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122 |
NM_001605.2(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652 |
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330 |
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala)
|
rs370622071 |
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu)
|
rs1374950172 |
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys)
|
rs138490305 |
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422 |
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)
|
rs551899273 |
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
|
rs1597439359 |
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
|
rs1228135551 |
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729 |
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
|
rs763378637 |
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
|
rs780609058 |
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
|
rs0 |
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
|
rs0 |
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307 |
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
|
rs0 |
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671 |
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968 |
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005 |
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231 |
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338 |
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541 |
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678 |
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271 |
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907 |
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151 |
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213 |
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765 |
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806 |
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179 |
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485 |
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388 |
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613 |
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615 |
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198 |
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428 |
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914 |
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551 |
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176 |
NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527 |
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
|
rs0 |
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
rs0 |
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs0 |
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs0 |
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
|
rs0 |
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
rs0 |
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
|
rs0 |
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126 |
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
rs0 |
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
|
rs0 |
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
|
rs0 |
NM_002180.3(IGHMBP2):c.2612-3C>T
|
rs0 |
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
|
rs0 |
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
rs0 |
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
|
rs0 |
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
|
rs0 |
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
|
rs0 |
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
|
rs0 |
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298 |
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
rs0 |
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)
|
rs1057517852 |
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
|
rs0 |
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
|
rs0 |
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)
|
rs886703882 |
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
|
rs0 |
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
rs0 |
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171 |
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
|
rs0 |
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743 |
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
|
rs1594821331 |
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
|
rs0 |
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
rs0 |
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
|
rs0 |
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
rs0 |
NM_004990.4(MARS1):c.1368+3A>T
|
rs0 |
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
|
rs0 |
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs0 |
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
rs0 |
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261 |
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718 |
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs0 |
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220 |
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs0 |
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787 |
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944 |
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
|
rs0 |
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
|
rs0 |
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs0 |
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
rs0 |
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530 |
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392 |
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
rs0 |
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
rs0 |
NM_005391.5(PDK3):c.1077+4C>T
|
rs0 |
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
|
rs0 |
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
|
rs0 |
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970 |
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853 |
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val)
|
rs367925853 |
NM_006096.3(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318 |
NM_006096.3(NDRG1):c.63+6T>C
|
rs199597649 |
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009 |
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172 |
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
|
rs0 |
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
|
rs0 |
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
|
rs202118022 |
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527 |
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
|
rs0 |
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs0 |
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs0 |
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
|
rs0 |
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
|
rs0 |
NM_006096.4(NDRG1):c.703C>T
|
rs772268356 |
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
|
rs0 |
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
|
rs0 |
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro)
|
rs587777881 |
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641 |
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser)
|
rs541360328 |
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538 |
NM_006158.5(NEFL):c.*2C>A
|
rs0 |
NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del)
|
rs0 |
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
|
rs0 |
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
|
rs0 |
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs0 |
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
|
rs0 |
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs0 |
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs0 |
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs0 |
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs0 |
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
rs0 |
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs0 |
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
|
rs0 |
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
|
rs0 |
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu)
|
rs371203080 |
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val)
|
rs0 |
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)
|
rs369803886 |
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571 |
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)
|
rs0 |
NM_006415.4(SPTLC1):c.1302_1304AGA[1] (p.Glu436del)
|
rs0 |
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)
|
rs150792865 |
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
|
rs748723735 |
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu)
|
rs200773661 |
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
|
rs0 |
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
|
rs0 |
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
|
rs0 |
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)
|
rs1215612827 |
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys)
|
rs544935330 |
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)
|
rs540759977 |
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)
|
rs0 |
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs0 |
NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile)
|
rs780595685 |
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144 |
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327 |
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
|
rs0 |
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
rs0 |
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
|
rs0 |
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
|
rs0 |
NM_014845.6(FIG4):c.1949-10T>G
|
rs0 |
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs0 |
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
|
rs0 |
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
rs0 |
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs0 |
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
|
rs0 |
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767 |
NM_014845.6(FIG4):c.498-13A>G
|
rs0 |
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937 |
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
|
rs0 |
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991 |
NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln)
|
rs142042485 |
NM_014874.3(MFN2):c.1181G>A (p.Arg394His)
|
rs538243357 |
NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser)
|
rs145654854 |
NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu)
|
rs766735605 |
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706 |
NM_014874.3(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949 |
NM_014874.3(MFN2):c.474+4A>G
|
rs141974160 |
NM_014874.3(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603 |
NM_014874.3(MFN2):c.661G>C (p.Asp221His)
|
rs1569842525 |
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726 |
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530 |
NM_014874.4(MFN2):c.1393-8G>A
|
rs0 |
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
|
rs0 |
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
|
rs0 |
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874 |
NM_014874.4(MFN2):c.176-3C>T
|
rs0 |
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
|
rs0 |
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
|
rs0 |
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
|
rs0 |
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
|
rs0 |
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
rs0 |
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
|
rs0 |
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
|
rs0 |
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
|
rs0 |
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
|
rs0 |
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln)
|
rs1569844113 |
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
|
rs0 |
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
|
rs0 |
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
rs0 |
NM_015074.3(KIF1B):c.1456C>G (p.Pro486Ala)
|
rs201500946 |
NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307 |
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg)
|
rs145266399 |
NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile)
|
rs142881321 |
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile)
|
rs41274468 |
NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met)
|
rs139572764 |
NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile)
|
rs121908162 |
NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr)
|
rs142567076 |
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr)
|
rs200614254 |
NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu)
|
rs0 |
NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr)
|
rs374098797 |
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg)
|
rs749610931 |
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val)
|
rs529804940 |
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala)
|
rs200561798 |
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg)
|
rs373698346 |
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467 |
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913 |
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678 |
NM_016156.5(MTMR2):c.1770+3A>G
|
rs756909627 |
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477 |
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748 |
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934 |
NM_016156.6(MTMR2):c.*17G>A
|
rs0 |
NM_016156.6(MTMR2):c.-15T>C
|
rs0 |
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs0 |
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
|
rs0 |
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs0 |
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs0 |
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
|
rs0 |
NM_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782 |
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
|
rs0 |
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys)
|
rs1586806242 |
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs0 |
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226 |
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910 |
NM_020956.2(PRX):c.*1044C>T
|
rs557355077 |
NM_020956.2(PRX):c.*1097C>T
|
rs185112635 |
NM_020956.2(PRX):c.*1127A>G
|
rs753330520 |
NM_020956.2(PRX):c.*1427C>T
|
rs150244426 |
NM_020956.2(PRX):c.*1790A>G
|
rs767098112 |
NM_020956.2(PRX):c.*1919G>A
|
rs370979792 |
NM_020956.2(PRX):c.*2033G>A
|
rs537664679 |
NM_020956.2(PRX):c.*2498G>T
|
rs541455813 |
NM_020956.2(PRX):c.*2669G>A
|
rs772009400 |
NM_020956.2(PRX):c.*2753C>G
|
rs141686828 |
NM_020956.2(PRX):c.*2895G>A
|
rs752531623 |
NM_020956.2(PRX):c.*3024G>A
|
rs1322545345 |
NM_020956.2(PRX):c.*3204C>T
|
rs765924621 |
NM_020956.2(PRX):c.*3216C>T
|
rs996865233 |
NM_020956.2(PRX):c.*3391G>T
|
rs139188673 |
NM_020956.2(PRX):c.*3395C>T
|
rs937051533 |
NM_020956.2(PRX):c.*3476G>A
|
rs368459753 |
NM_020956.2(PRX):c.*3785C>G
|
rs149732789 |
NM_020956.2(PRX):c.*3861C>T
|
rs201393544 |
NM_020956.2(PRX):c.*4222C>A
|
rs758057597 |
NM_020956.2(PRX):c.*4317G>A
|
rs377009047 |
NM_020956.2(PRX):c.*4343C>T
|
rs771840476 |
NM_020956.2(PRX):c.*4424T>G
|
rs146468976 |
NM_020956.2(PRX):c.*4506G>A
|
rs759435622 |
NM_020956.2(PRX):c.*4512G>A
|
rs368827070 |
NM_020956.2(PRX):c.*4538A>G
|
rs368067072 |
NM_020956.2(PRX):c.*705G>A
|
rs757322355 |
NM_020956.2(PRX):c.*705G>C
|
rs757322355 |
NM_020956.2(PRX):c.*707C>T
|
rs374193988 |
NM_020956.2(PRX):c.*744C>T
|
rs540526276 |
NM_020956.2(PRX):c.*887C>G
|
rs751238438 |
NM_020956.2(PRX):c.*887C>T
|
rs751238438 |
NM_020956.2(PRX):c.281_283del (p.Phe94del)
|
rs1424434006 |
NM_020956.2(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566 |
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His)
|
rs143502097 |
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547 |
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe)
|
rs202066574 |
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338 |
NM_021625.4(TRPV4):c.167G>A (p.Arg56His)
|
rs767169716 |
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344 |
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter)
|
rs515726156 |
NM_021625.4(TRPV4):c.183C>T (p.Gly61=)
|
rs773744592 |
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544 |
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala)
|
rs760044422 |
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512 |
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys)
|
rs772074281 |
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080 |
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102 |
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His)
|
rs1431224527 |
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555 |
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu)
|
rs779371027 |
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly)
|
rs989621170 |
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351 |
NM_021625.4(TRPV4):c.746G>A (p.Arg249His)
|
rs771294425 |
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn)
|
rs200210023 |
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080 |
NM_021625.5(TRPV4):c.-16C>T
|
rs0 |
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
|
rs0 |
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
|
rs0 |
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
|
rs0 |
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
|
rs0 |
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
|
rs0 |
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
|
rs0 |
NM_021625.5(TRPV4):c.2336+1G>A
|
rs0 |
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
|
rs0 |
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
|
rs0 |
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs0 |
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
|
rs0 |
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
|
rs0 |
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs0 |
NM_021625.5(TRPV4):c.712+1G>T
|
rs0 |
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
|
rs0 |
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980 |
NM_024577.3(SH3TC2):c.1002-5T>A
|
rs769711653 |
NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517 |
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041 |
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192 |
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780 |
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543 |
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771 |
NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720 |
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776 |
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124 |
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801 |
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787 |
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367 |
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766 |
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150 |
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172 |
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473 |
NM_024577.3(SH3TC2):c.279+4A>G
|
rs371909418 |
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852 |
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427 |
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699 |
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602 |
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843 |
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053 |
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433 |
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608 |
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273 |
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632 |
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006 |
NM_024577.3(SH3TC2):c.385+3A>G
|
rs184593694 |
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804 |
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768 |
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391 |
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904 |
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882 |
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732 |
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284 |
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676 |
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875 |
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs0 |
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
|
rs0 |
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
|
rs0 |
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs0 |
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs0 |
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
|
rs0 |
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs0 |
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
|
rs0 |
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs0 |
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs0 |
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs0 |
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
|
rs0 |
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
|
rs0 |
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs0 |
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
|
rs0 |
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361 |
NM_024577.4(SH3TC2):c.3204+5G>A
|
rs0 |
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs0 |
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs0 |
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
|
rs0 |
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs0 |
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
|
rs0 |
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs0 |
NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala)
|
rs0 |
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729 |
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431 |
NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492 |
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val)
|
rs0 |
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823 |
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120 |
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749 |
NM_030962.3(SBF2):c.1563A>G (p.Ile521Met)
|
rs0 |
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg)
|
rs746860317 |
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu)
|
rs0 |
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala)
|
rs374114606 |
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser)
|
rs138120231 |
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala)
|
rs0 |
NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs0 |
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val)
|
rs147438385 |
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081 |
NM_030962.3(SBF2):c.3316A>G (p.Met1106Val)
|
rs0 |
NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp)
|
rs0 |
NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr)
|
rs0 |
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His)
|
rs0 |
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs0 |
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248 |
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523 |
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228 |
NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn)
|
rs0 |
NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg)
|
rs0 |
NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr)
|
rs0 |
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742 |
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330 |
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255 |
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg)
|
rs147772705 |
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu)
|
rs0 |
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del)
|
rs572571832 |
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val)
|
rs755264093 |
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484 |
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly)
|
rs0 |
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala)
|
rs0 |
NM_030962.3(SBF2):c.861+5G>C
|
rs879253963 |
NM_030962.3(SBF2):c.87G>C (p.Gln29His)
|
rs751336040 |
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg)
|
rs0 |
NM_030973.3(MED25):c.107G>A (p.Arg36His)
|
rs1555800954 |
NM_030973.3(MED25):c.135-6T>G
|
rs199743509 |
NM_030973.3(MED25):c.1677G>C (p.Met559Ile)
|
rs369006637 |
NM_030973.3(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932 |
NM_030973.3(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611 |
NM_030973.3(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835 |
NM_030973.3(MED25):c.4G>C (p.Val2Leu)
|
rs780512266 |
NM_030973.3(MED25):c.556C>T (p.Arg186Trp)
|
rs776291104 |
NM_030973.3(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130 |
NM_030973.3(MED25):c.908-3_908-2del
|
rs766739944 |
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
|
rs0 |
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
|
rs0 |
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs0 |
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
|
rs0 |
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
|
rs0 |
NM_030973.4(MED25):c.249A>C (p.Gln83His)
|
rs0 |
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
|
rs0 |
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
|
rs0 |
NM_030973.4(MED25):c.807_809del (p.Pro270del)
|
rs0 |
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp)
|
rs0 |
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val)
|
rs0 |
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln)
|
rs369439346 |
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs0 |
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114 |
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile)
|
rs1400819662 |
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)
|
rs0 |
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp)
|
rs0 |
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His)
|
rs537838691 |
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile)
|
rs746831085 |
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe)
|
rs0 |
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr)
|
rs1588144651 |
NM_138361.5(LRSAM1):c.253-9C>A
|
rs0 |
NM_138361.5(LRSAM1):c.362G>A (p.Arg121His)
|
rs0 |
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile)
|
rs772202137 |
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394 |
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685 |
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179 |
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922 |
NM_138361.5(LRSAM1):c.904-4del
|
rs757987823 |
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835 |
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met)
|
rs0 |
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr)
|
rs755934741 |
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
|
rs0 |
NM_139241.3(FGD4):c.2095A>G (p.Met699Val)
|
rs140220443 |
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
|
rs0 |
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp)
|
rs201826412 |
NM_139241.3(FGD4):c.691-5T>A
|
rs0 |
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
|
rs143251785 |
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977 |
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223 |
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188 |
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901 |
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924 |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493 |
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613 |
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
|
rs0 |
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419 |
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963 |
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs0 |
NM_170707.4(LMNA):c.571G>A (p.Val191Met)
|
rs879253896 |
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
|
rs0 |
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809 |
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906 |
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907 |
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364 |
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946 |
NM_170707.4(LMNA):c.897C>G (p.Ile299Met)
|
rs762718963 |
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
|
rs0 |
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
|
rs0 |
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
|
rs0 |
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
|
rs0 |
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
rs0 |
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
rs0 |
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
|
rs0 |
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs0 |
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
|
rs0 |
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
|
rs0 |
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
|
rs0 |
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
rs0 |
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
rs0 |
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
|
rs0 |
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
rs0 |
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
rs0 |
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
|
rs0 |
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
rs0 |
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
|
rs0 |
NM_181882.3(PRX):c.2628G>A (p.Met876Ile)
|
rs0 |
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
rs0 |
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
|
rs0 |
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
|
rs0 |
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs0 |
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
|
rs0 |
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
|
rs0 |
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
|
rs0 |
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
|
rs0 |
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
|
rs0 |
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
|
rs0 |
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
|
rs0 |
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs0 |
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
|
rs0 |
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
|
rs0 |
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
|
rs0 |
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
|
rs0 |
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
|
rs0 |
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
|
rs0 |
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
|
rs0 |
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
|
rs0 |
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
|
rs0 |
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
|
rs0 |
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
|
rs0 |
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
|
rs0 |
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
|
rs0 |
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
|
rs0 |
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
|
rs0 |
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549 |