ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory,London Health Sciences Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1914
Download table as spreadsheet
HGVS dbSNP
NM_000166.6(GJB1):c.*18C>G
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.179-13C>G
NM_000304.4(PMP22):c.179-17G>A
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
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.320-4C>T rs377467465
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820
NM_000371.3(TTR):c.*3_*11del rs143948820
NM_000371.3(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.337-18G>C rs36204272
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.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.3(TTR):c.70-19G>A rs548935944
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.4(TTR):c.201-3T>C
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.337-13T>C rs762691667
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000371.4(TTR):c.75C>T (p.Thr25=)
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
NM_000399.5(EGR2):c.774G>A (p.Val258=)
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
NM_000530.8(MPZ):c.*1C>T
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.174C>T (p.Val58=)
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
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.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+10A>G
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
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.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
NM_001136473.1(LITAF):c.221-16C>T
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.377+3G>A
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001365951.3(KIF1B):c.107-11T>G
NM_001365951.3(KIF1B):c.107-13T>C
NM_001365951.3(KIF1B):c.1180+13A>G
NM_001365951.3(KIF1B):c.1180+19G>A
NM_001365951.3(KIF1B):c.1222+16_1222+17del
NM_001365951.3(KIF1B):c.1223-28C>T
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
NM_001365951.3(KIF1B):c.1435-9C>T
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
NM_001365951.3(KIF1B):c.1671-4T>C
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)
NM_001365951.3(KIF1B):c.2043-4C>T
NM_001365951.3(KIF1B):c.2043-9del
NM_001365951.3(KIF1B):c.2358+9C>T
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
NM_001365951.3(KIF1B):c.2537+15A>G
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) rs200858074
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) rs749154726
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
NM_001365951.3(KIF1B):c.3259+3A>C
NM_001365951.3(KIF1B):c.3422+18T>C
NM_001365951.3(KIF1B):c.3688+7_3688+8dup
NM_001365951.3(KIF1B):c.3798-15G>A
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
NM_001365951.3(KIF1B):c.4305-17T>A
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782
NM_001365951.3(KIF1B):c.4753-20C>A
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
NM_001365951.3(KIF1B):c.4946+10C>T
NM_001365951.3(KIF1B):c.4947-13C>G
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
NM_001365951.3(KIF1B):c.5097-11G>T
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
NM_001365951.3(KIF1B):c.5409-16C>T
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
NM_001365951.3(KIF1B):c.608+14T>G
NM_001365951.3(KIF1B):c.609-10G>A
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) rs772548887
NM_001365951.3(KIF1B):c.959-16T>A
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421
NM_001376.5(DYNC1H1):c.10626+12G>A
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695
NM_001376.5(DYNC1H1):c.10754+10C>T
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
NM_001376.5(DYNC1H1):c.11595+20C>T
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12102+20C>T
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
NM_001376.5(DYNC1H1):c.12276-17T>C
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) rs1566997875
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13218+18G>A
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+14C>T
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076
NM_001376.5(DYNC1H1):c.13516-18G>C
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=)
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3960+16G>A
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4074+11A>T rs368040742
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) rs764884119
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.519-17A>G
NM_001376.5(DYNC1H1):c.519-3dup
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.6619-19G>A rs747037096
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=)
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7848+13G>A
NM_001376.5(DYNC1H1):c.8178-19C>T
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+9_8343+10del
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7dup
NM_001376.5(DYNC1H1):c.8772-13C>T
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9048+16G>A
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805
NM_001376.5(DYNC1H1):c.9468+9A>G
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.*20A>C
NM_001540.5(HSPB1):c.-15G>A rs756260929
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.428+13G>T
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
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_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002047.4(GARS1):c.-14A>G
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1032-14G>A
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.129G>T (p.Pro43=)
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
NM_002047.4(GARS1):c.1700-13A>G
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1809+13G>A
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1809+16C>T
NM_002047.4(GARS1):c.1809+8G>C
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.1904-18T>C rs41275991
NM_002047.4(GARS1):c.1904-19C>T
NM_002047.4(GARS1):c.1904-19del rs745958570
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.428-17C>T rs370452042
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525
NM_002047.4(GARS1):c.881+17G>A
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002180.2(IGHMBP2):c.*3G>A rs372949830
NM_002180.2(IGHMBP2):c.*6C>T rs117995705
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1418+11C>T rs201279838
NM_002180.2(IGHMBP2):c.1418+18A>G rs112575423
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) rs546382
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
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.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2612-14C>T rs200940488
NM_002180.2(IGHMBP2):c.2612-15G>A rs372230504
NM_002180.2(IGHMBP2):c.2612-16C>T rs200337900
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
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.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
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.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T rs368802434
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148
NM_002180.2(IGHMBP2):c.87-19A>G rs183650590
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.*18C>T
NM_002180.3(IGHMBP2):c.-2C>T rs4930624
NM_002180.3(IGHMBP2):c.1061-19G>A
NM_002180.3(IGHMBP2):c.1061-1G>C
NM_002180.3(IGHMBP2):c.1235+511T>C
NM_002180.3(IGHMBP2):c.1235+519C>T
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1537+9G>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
NM_002180.3(IGHMBP2):c.1538-19G>A
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
NM_002180.3(IGHMBP2):c.2612-3C>T
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
NM_002180.3(IGHMBP2):c.548-19G>A
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_004208.4(AIFM1):c.*20C>A
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245
NM_004208.4(AIFM1):c.1574-20G>T
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004208.4(AIFM1):c.249+1258T>C
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.606-15C>T rs191297808
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.183A>C (p.Ile61=) rs376642691
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
NM_004637.6(RAB7A):c.400-17C>G
NM_004637.6(RAB7A):c.529-11T>G
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
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)
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
NM_004990.4(MARS1):c.1368+15C>T
NM_004990.4(MARS1):c.1368+3A>T
NM_004990.4(MARS1):c.1369-14C>T
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2204+11G>A rs202080192
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.2392-8T>A
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.2557-12C>G
NM_004990.4(MARS1):c.2557-13C>A
NM_004990.4(MARS1):c.2557-13C>G
NM_004990.4(MARS1):c.2557-14C>T
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
NM_004990.4(MARS1):c.280-13C>T
NM_004990.4(MARS1):c.280-14C>T rs183195960
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.414+8G>A
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.663+11G>A
NM_004990.4(MARS1):c.663+20C>T
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.771-15C>G rs201328384
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
NM_005391.5(PDK3):c.1077+4C>T
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
NM_005391.5(PDK3):c.249-14T>G
NM_005391.5(PDK3):c.249-9del
NM_005391.5(PDK3):c.249-9dup
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
NM_005391.5(PDK3):c.674-11T>C
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
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.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.3(NDRG1):c.944-13C>T rs753312340
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.4(NDRG1):c.-18-2_-18-1del
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
NM_006096.4(NDRG1):c.206-17T>G
NM_006096.4(NDRG1):c.389+13G>C
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)
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
NM_006096.4(NDRG1):c.699-16C>G
NM_006096.4(NDRG1):c.703C>T rs772268356
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
NM_006096.4(NDRG1):c.756-13T>C
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.892-11G>A
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.5(NEFL):c.*2C>A
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del)
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1170-19C>T
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val)
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
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.1254+10C>T rs200704785
NM_006415.4(SPTLC1):c.1254+8del
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
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.1411G>A (p.Val471Ile) rs141292904
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) rs141265918
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) rs200773661
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=)
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.560+16G>C rs73512337
NM_006415.4(SPTLC1):c.58-19G>C
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
NM_006415.4(SPTLC1):c.781-6A>G rs138268337
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)
NM_006736.6(DNAJB2):c.*17G>T
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245
NM_006736.6(DNAJB2):c.230-10G>A rs3731897
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=)
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455
NM_006736.6(DNAJB2):c.352+20C>G
NM_006736.6(DNAJB2):c.353-9T>G
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)
NM_006736.6(DNAJB2):c.446-17C>G
NM_006736.6(DNAJB2):c.446-8G>A rs3821039
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330
NM_006736.6(DNAJB2):c.620-19G>A
NM_006736.6(DNAJB2):c.66-14C>T rs2276638
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) rs775630178
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) rs140805390
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=)
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1949-15C>T rs778444771
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.447-16G>T rs200890189
NM_014845.5(FIG4):c.647-18C>A rs2273752
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
NM_014845.6(FIG4):c.1949-10T>G
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2180+20C>T
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
NM_014845.6(FIG4):c.2377-18T>C
NM_014845.6(FIG4):c.2377-19T>C
NM_014845.6(FIG4):c.2377-20_2377-19insC
NM_014845.6(FIG4):c.2377-20_2377-19insCT
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.446+32dup
NM_014845.6(FIG4):c.447-16delinsTT
NM_014845.6(FIG4):c.447-17dup
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup
NM_014845.6(FIG4):c.498-13A>G
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014845.6(FIG4):c.66+18G>A
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
NM_014874.3(MFN2):c.*15G>A rs141339523
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1039-19G>A rs74052923
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) rs142042485
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1181G>A (p.Arg394His) rs538243357
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) rs145654854
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu) rs766735605
NM_014874.3(MFN2):c.2112C>T (p.Asp704=) rs374371748
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.444C>T (p.Thr148=) rs373038884
NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.564C>T (p.Cys188=) rs536007087
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.723C>T (p.Phe241=) rs764912025
NM_014874.3(MFN2):c.744C>T (p.Leu248=) rs61733205
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.3(MFN2):c.870C>T (p.Gly290=) rs368302487
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.970+19G>A rs75865135
NM_014874.4(MFN2):c.1393-8G>A
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
NM_014874.4(MFN2):c.1495+10del
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
NM_014874.4(MFN2):c.1717-12T>G
NM_014874.4(MFN2):c.1717-15T>C
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874
NM_014874.4(MFN2):c.176-3C>T
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
NM_014874.4(MFN2):c.2069+18A>G
NM_014874.4(MFN2):c.2070-11C>T
NM_014874.4(MFN2):c.2070-8C>T
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
NM_014874.4(MFN2):c.318C>T (p.Ser106=)
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
NM_014874.4(MFN2):c.708+10C>T
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
NM_015074.3(KIF1B):c.*2T>C rs148690591
NM_015074.3(KIF1B):c.1162+18C>T rs41274456
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) rs146364486
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.184-6_184-5del rs138324955
NM_015074.3(KIF1B):c.186C>T (p.Pro62=) rs141998703
NM_015074.3(KIF1B):c.1905-10_1905-9del rs58344165
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) rs41274468
NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg) rs551543997
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met) rs139572764
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
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.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) rs78611156
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) rs150904940
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr) rs200614254
NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu)
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) rs374098797
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15del rs3215996
NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu) rs141224290
NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) rs140229905
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) rs749610931
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val) rs529804940
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) rs116302604
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) rs200561798
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4530C>T (p.Ser1510=) rs765541693
NM_015074.3(KIF1B):c.4615-9C>T rs375366137
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dup rs139613776
NM_015074.3(KIF1B):c.720+17C>T rs1339458
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
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.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1770+3A>G rs756909627
NM_016156.5(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.186+9A>G rs371081575
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) rs372937811
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
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_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.6(MTMR2):c.*17G>A
NM_016156.6(MTMR2):c.-15T>C
NM_016156.6(MTMR2):c.-16C>T
NM_016156.6(MTMR2):c.1387-19T>G
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
NM_016156.6(MTMR2):c.1594-20C>A
NM_016156.6(MTMR2):c.186+19A>T
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
NM_016156.6(MTMR2):c.358-39_358-16del
NM_016156.6(MTMR2):c.358-42_358-18del
NM_016156.6(MTMR2):c.654+5G>A
NM_016156.6(MTMR2):c.655-19T>C
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
NM_018972.4(GDAP1):c.-19C>T
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.117+12C>G rs202059380
NM_018972.4(GDAP1):c.117+28G>A rs4321999
NM_018972.4(GDAP1):c.118-16G>A
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.311-7A>G
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.485-20C>G rs73345392
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579+417A>G
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_020956.2(PRX):c.*1028C>A rs200033507
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.*1198G>A rs146323928
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1334G>T rs754081921
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2846C>A rs375201649
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
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.*3423A>G rs61733451
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3913G>A rs202119177
NM_020956.2(PRX):c.*4007G>C rs146061247
NM_020956.2(PRX):c.*4036C>G rs577796628
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4249G>C rs76088917
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.*650G>A rs142436391
NM_020956.2(PRX):c.*676G>A rs4803335
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.*745G>A rs371243093
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*847C>A rs551628239
NM_020956.2(PRX):c.*887C>G rs751238438
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.*952C>T rs3814289
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
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.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1584+12G>T rs375908611
NM_021625.4(TRPV4):c.1584+18G>C rs10850750
NM_021625.4(TRPV4):c.1585-18C>T rs201974634
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+15C>T rs200083069
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
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.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-15C>T rs200602134
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.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
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.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) rs546957932
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
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.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.936G>A (p.Ala312=) rs202084699
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.-16C>T
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
NM_021625.5(TRPV4):c.1152+12G>T
NM_021625.5(TRPV4):c.1152+15dup
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
NM_021625.5(TRPV4):c.1333-16A>C
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077
NM_021625.5(TRPV4):c.1492-17C>T
NM_021625.5(TRPV4):c.1585-15C>A
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
NM_021625.5(TRPV4):c.1824+14G>A
NM_021625.5(TRPV4):c.1824+5G>A
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
NM_021625.5(TRPV4):c.2336+10G>C
NM_021625.5(TRPV4):c.2336+1G>A
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
NM_021625.5(TRPV4):c.712+1G>T
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
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.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
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.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) rs145345364
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
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.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.279+4A>G rs371909418
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2873-18T>C rs113514936
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
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.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.3(SH3TC2):c.385+3A>G rs184593694
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) rs745613768
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
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_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
NM_024577.4(SH3TC2):c.1136-12A>G
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
NM_024577.4(SH3TC2):c.1177+18T>A
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
NM_024577.4(SH3TC2):c.1318C>T rs768012192
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
NM_024577.4(SH3TC2):c.1402_1403delinsTT rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
NM_024577.4(SH3TC2):c.151+15_151+16del
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
NM_024577.4(SH3TC2):c.280-4G>A
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2873-16C>T
NM_024577.4(SH3TC2):c.2873-17C>T
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361
NM_024577.4(SH3TC2):c.3204+5G>A
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024577.4(SH3TC2):c.3479-20C>T
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
NM_024577.4(SH3TC2):c.52+4A>G
NM_024577.4(SH3TC2):c.53-17del
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
NM_024577.4(SH3TC2):c.731+17C>A
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala)
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.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val)
NM_030962.3(SBF2):c.1297-13T>C
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)
NM_030962.3(SBF2):c.1395+1G>A
NM_030962.3(SBF2):c.142-22dup
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
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)
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1601-20T>C
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu)
NM_030962.3(SBF2):c.1711-9T>C
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=) rs1224103000
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.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2109T>C (p.Leu703=)
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2536+16A>T
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.3(SBF2):c.2619T>C (p.Ile873=)
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala)
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys)
NM_030962.3(SBF2):c.3111-6T>C rs16907139
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.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3316A>G (p.Met1106Val)
NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp)
NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr)
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.3(SBF2):c.3456-22_3456-18del
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His)
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser)
NM_030962.3(SBF2):c.3794-20C>T rs116966215
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
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.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)
NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn)
NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg)
NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr)
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.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4539C>T (p.Leu1513=)
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu)
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-9C>G
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.513+18A>T rs201201683
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=)
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5451+8G>C
NM_030962.3(SBF2):c.5452-3T>C
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) rs376788960
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly)
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=)
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala)
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.861+9T>A
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg)
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=)
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030973.3(MED25):c.-12A>G rs114843375
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_030973.3(MED25):c.1062C>T (p.Ser354=) rs140345077
NM_030973.3(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.3(MED25):c.1227A>G (p.Gln409=) rs769851706
NM_030973.3(MED25):c.135-6T>G rs199743509
NM_030973.3(MED25):c.1374+9C>T rs574703435
NM_030973.3(MED25):c.1377C>T (p.Thr459=) rs374928221
NM_030973.3(MED25):c.1434G>A (p.Lys478=) rs181389801
NM_030973.3(MED25):c.1482+19G>A rs4802632
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_030973.3(MED25):c.151C>T (p.Pro51Ser) rs147869920
NM_030973.3(MED25):c.1572C>T (p.Gly524=) rs559482732
NM_030973.3(MED25):c.165G>A (p.Thr55=) rs77400039
NM_030973.3(MED25):c.1674+19C>T rs752522
NM_030973.3(MED25):c.1677G>C (p.Met559Ile) rs369006637
NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) rs193291405
NM_030973.3(MED25):c.1794C>T (p.Ala598=) rs185100172
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.2031G>A (p.Ala677=) rs57854058
NM_030973.3(MED25):c.2046G>A (p.Pro682=) rs755620011
NM_030973.3(MED25):c.2056C>T (p.Leu686=) rs201969940
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_030973.3(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.3(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.3(MED25):c.247C>G (p.Gln83Glu) rs143148835
NM_030973.3(MED25):c.354C>T (p.Leu118=) rs145574885
NM_030973.3(MED25):c.396C>T (p.Arg132=) rs142353864
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.597C>A (p.Ala199=) rs149788020
NM_030973.3(MED25):c.664C>T (p.Leu222=) rs147538736
NM_030973.3(MED25):c.689-3C>T rs199623358
NM_030973.3(MED25):c.689T>C (p.Val230Ala) rs199982073
NM_030973.3(MED25):c.751G>A (p.Ala251Thr) rs775622130
NM_030973.3(MED25):c.819+14C>T rs188257265
NM_030973.3(MED25):c.908-3_908-2del rs766739944
NM_030973.3(MED25):c.93C>T (p.Tyr31=) rs61742955
NM_030973.4(MED25):c.1044C>T (p.Ser348=)
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
NM_030973.4(MED25):c.1101+24_1101+42dup
NM_030973.4(MED25):c.1102-11C>G
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
NM_030973.4(MED25):c.1317-16del
NM_030973.4(MED25):c.134+19A>G
NM_030973.4(MED25):c.134+20C>T
NM_030973.4(MED25):c.135-1G>A
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
NM_030973.4(MED25):c.1482+17G>A
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
NM_030973.4(MED25):c.1675-18C>T
NM_030973.4(MED25):c.168C>T (p.Asp56=)
NM_030973.4(MED25):c.1747-19_1747-18del
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
NM_030973.4(MED25):c.186G>A (p.Gly62=)
NM_030973.4(MED25):c.1966-5C>T
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
NM_030973.4(MED25):c.2146+19G>T
NM_030973.4(MED25):c.2146+6G>A
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
NM_030973.4(MED25):c.249A>C (p.Gln83His)
NM_030973.4(MED25):c.305+17T>G
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
NM_030973.4(MED25):c.558G>A (p.Arg186=)
NM_030973.4(MED25):c.580C>T (p.Leu194=)
NM_030973.4(MED25):c.688+17G>A
NM_030973.4(MED25):c.807_809del (p.Pro270del)
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1044-20T>C
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=)
NM_138361.5(LRSAM1):c.1160-7C>T rs377144291
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp)
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val)
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg)
NM_138361.5(LRSAM1):c.1422+42_1422+43del
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=)
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=)
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=)
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)
NM_138361.5(LRSAM1):c.175-18G>T
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp)
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
NM_138361.5(LRSAM1):c.1830+20A>G
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe)
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2046+16T>C
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.253-9C>A
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.330C>T (p.Asn110=)
NM_138361.5(LRSAM1):c.362G>A (p.Arg121His)
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=)
NM_138361.5(LRSAM1):c.528+15G>C
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
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.619+11G>A rs370502826
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.750+2T>G
NM_138361.5(LRSAM1):c.750+33G>A rs2250267
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.903+38T>C rs1539569
NM_138361.5(LRSAM1):c.904-2A>G
NM_138361.5(LRSAM1):c.904-4del rs757987823
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met)
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) rs755934741
NM_139241.3(FGD4):c.1191+7G>A
NM_139241.3(FGD4):c.1198C>T (p.Leu400=)
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1413T>G (p.Val471=)
NM_139241.3(FGD4):c.1511+11C>T
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.201C>T (p.Leu67=) rs141920723
NM_139241.3(FGD4):c.2095A>G (p.Met699Val) rs140220443
NM_139241.3(FGD4):c.2220A>G (p.Thr740=)
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.691-5T>A
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.837-13A>G
NM_139241.3(FGD4):c.837-16dup rs368420700
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) rs143251785
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
NM_170707.4(LMNA):c.1157+15C>T
NM_170707.4(LMNA):c.1157+16G>A rs534807
NM_170707.4(LMNA):c.1157+19G>A rs757715731
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
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.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488+8G>A rs762836610
NM_170707.4(LMNA):c.1489-16C>G
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1699-8C>G rs727503137
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
NM_170707.4(LMNA):c.1968+18dup
NM_170707.4(LMNA):c.1969-4T>C rs751715969
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
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.810+12C>T rs746914371
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.4(LMNA):c.897C>G (p.Ile299Met) rs762718963
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.937-7C>G rs267607681
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
NM_181882.3(PRX):c.122del (p.Gly41fs)
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
NM_181882.3(PRX):c.1638A>G (p.Val546=)
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
NM_181882.3(PRX):c.1986C>T (p.Val662=)
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
NM_181882.3(PRX):c.2628G>A (p.Met876Ile)
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
NM_181882.3(PRX):c.300G>A (p.Val100=)
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
NM_181882.3(PRX):c.861C>T (p.Ala287=)
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.