NC_000002.12:g.71453502T>C


NC_000002.12:g.71482001C>G


NC_000002.12:g.71520251del


NC_000002.12:g.71528250A>G


NC_000002.12:g.71552987C>G


NC_000002.12:g.71553776C>A


NC_000002.12:g.71555922G>T


NC_000002.12:g.71611370del


NC_000002.12:g.71644106A>G


NC_000002.12:g.71664231C>T


NC_000002.12:g.71674156C>T


NM_001130987.2(DYSF):c.*18A>G

rs1057521877 
NM_001130987.2(DYSF):c.128G>A


NM_001130987.2(DYSF):c.30G>A


NM_001130987.2(DYSF):c.1002+216C>T


NM_001130987.2(DYSF):c.100373A>G


NM_001130987.2(DYSF):c.1033+230G>T


NM_001130987.2(DYSF):c.1033+94G>T


NM_001130987.2(DYSF):c.1034196C>G


NM_001130987.2(DYSF):c.103420G>A

rs12713756 
NM_001130987.2(DYSF):c.103427A>G


NM_001130987.2(DYSF):c.103464C>T


NM_001130987.2(DYSF):c.103468T>C


NM_001130987.2(DYSF):c.1038C>T (p.His346=)

rs36122356 
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)

rs571559303 
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)

rs115279465 
NM_001130987.2(DYSF):c.1149+54C>T


NM_001130987.2(DYSF):c.1149+5G>A

rs1023002894 
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

rs199955501 
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)

rs150724610 
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)

rs758180890 
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)

rs527435707 
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)

rs1131691651 
NM_001130987.2(DYSF):c.1276+11C>T

rs35982795 
NM_001130987.2(DYSF):c.1276+172A>G


NM_001130987.2(DYSF):c.1288G>A (p.Val430Met)

rs144202114 
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=)

rs779669549 
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)

rs140667960 
NM_001130987.2(DYSF):c.1380+136C>T


NM_001130987.2(DYSF):c.1380+2T>C

rs398123765 
NM_001130987.2(DYSF):c.1380+67G>A


NM_001130987.2(DYSF):c.1380+6G>C

rs75796187 
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)

rs1131691788 
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)

rs141818764 
NM_001130987.2(DYSF):c.1449+11T>C

rs548993658 
NM_001130987.2(DYSF):c.1449+13C>T

rs4852801 
NM_001130987.2(DYSF):c.1449+7C>T

rs199608017 
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)

rs146064054 
NM_001130987.2(DYSF):c.145015C>T

rs376442287 
NM_001130987.2(DYSF):c.145088A>G


NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)

rs202044973 
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)

rs61740288 
NM_001130987.2(DYSF):c.148277T>C


NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)

rs398123767 
NM_001130987.2(DYSF):c.1494163G>T


NM_001130987.2(DYSF):c.149476G>A


NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)

rs34387018 
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)

rs34387018 
NM_001130987.2(DYSF):c.1576+118G>A


NM_001130987.2(DYSF):c.1576+253T>A


NM_001130987.2(DYSF):c.1577103G>A


NM_001130987.2(DYSF):c.157710T>C

rs371967475 
NM_001130987.2(DYSF):c.15771635C>G

rs76402294 
NM_001130987.2(DYSF):c.15771679G>T

rs1057524492 
NM_001130987.2(DYSF):c.15771825A>G


NM_001130987.2(DYSF):c.15771826C>T


NM_001130987.2(DYSF):c.15771852G>A


NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

rs121908962 
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)

rs139495331 
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr)

rs561875696 
NM_001130987.2(DYSF):c.1692+206C>T


NM_001130987.2(DYSF):c.169362C>T


NM_001130987.2(DYSF):c.16936T>A

rs886039573 
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His)

rs1368149283 
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal)

rs1446214240 
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)

rs35984374 
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)

rs546679270 
NM_001130987.2(DYSF):c.1806+182G>A


NM_001130987.2(DYSF):c.1806+265C>T


NM_001130987.2(DYSF):c.1806+29G>A


NM_001130987.2(DYSF):c.180713T>C


NM_001130987.2(DYSF):c.1807288T>C


NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)

rs2303596 
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

rs746873768 
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)

rs35721373 
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)

rs141867897 
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)

rs115849497 
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)

rs115849497 
NM_001130987.2(DYSF):c.1985116T>C


NM_001130987.2(DYSF):c.198515G>T

rs146407633 
NM_001130987.2(DYSF):c.1985195C>T


NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)

rs139754493 
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)

rs138111360 
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

rs114986640 
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)

rs74423119 
NM_001130987.2(DYSF):c.2110331C>G


NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)

rs775539496 
NM_001130987.2(DYSF):c.2216+16C>T

rs111389127 
NM_001130987.2(DYSF):c.221711G>A

rs200853014 
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)

rs202123283 
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)

rs200957354 
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys)

rs181551438 
NM_001130987.2(DYSF):c.2316T>C (p.Ala772=)

rs141314294 
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)

rs116204385 
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)

rs553605812 
NM_001130987.2(DYSF):c.239+16G>C

rs370433490 
NM_001130987.2(DYSF):c.239+20G>A

rs12470028 
NM_001130987.2(DYSF):c.239+8G>A


NM_001130987.2(DYSF):c.240289G>A


NM_001130987.2(DYSF):c.2409+14G>A

rs141170955 
NM_001130987.2(DYSF):c.2410117A>G


NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)

rs560856407 
NM_001130987.2(DYSF):c.2484C>T (p.Pro828=)

rs143667543 
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)

rs371841411 
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)

rs34671418 
NM_001130987.2(DYSF):c.2565+234G>T


NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)

rs191337920 
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)

rs2288355 
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)

rs35884879 
NM_001130987.2(DYSF):c.2652G>A (p.Glu884=)

rs1221035313 
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys)

rs770997582 
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=)

rs148902254 
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)

rs373328706 
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)

rs34836829 
NM_001130987.2(DYSF):c.2864+244G>C


NM_001130987.2(DYSF):c.2864+84G>C


NM_001130987.2(DYSF):c.286585C>G


NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

rs144636654 
NM_001130987.2(DYSF):c.2979+112A>C


NM_001130987.2(DYSF):c.298015C>T

rs148732505 
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)

rs142404822 
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)

rs34061568 
NM_001130987.2(DYSF):c.308617G>A

rs3764971 
NM_001130987.2(DYSF):c.30869C>T

rs185350547 
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)

rs34211915 
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=)

rs377235191 
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

rs369607332 
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)

rs374934430 
NM_001130987.2(DYSF):c.3228+13G>A

rs896149148 
NM_001130987.2(DYSF):c.3228+202_3228+245del


NM_001130987.2(DYSF):c.3229306G>A


NM_001130987.2(DYSF):c.322961G>C


NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3])

rs398123779 
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)

rs141536854 
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)

rs59915619 
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)

rs746315830 
NM_001130987.2(DYSF):c.340310G>A

rs116733194 
NM_001130987.2(DYSF):c.3403112T>C


NM_001130987.2(DYSF):c.3403121G>C


NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)

rs148925399 
NM_001130987.2(DYSF):c.345+8C>T

rs780906230 
NM_001130987.2(DYSF):c.34616G>A

rs576372858 
NM_001130987.2(DYSF):c.3496+14C>T

rs112034381 
NM_001130987.2(DYSF):c.3496+187A>G


NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)

rs200719174 
NM_001130987.2(DYSF):c.356del (p.Val119fs)

rs398123782 
NM_001130987.2(DYSF):c.357512C>T

rs200680233 
NM_001130987.2(DYSF):c.357517C>T

rs13421969 
NM_001130987.2(DYSF):c.3575256G>C


NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)

rs79899601 
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)

rs148858485 
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)

rs148858485 
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)

rs150942486 
NM_001130987.2(DYSF):c.3756+133T>C


NM_001130987.2(DYSF):c.3756+134A>T


NM_001130987.2(DYSF):c.3756+202T>C


NM_001130987.2(DYSF):c.3756+227C>T


NM_001130987.2(DYSF):c.3756+9G>T

rs191746041 
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)

rs141720146 
NM_001130987.2(DYSF):c.375712C>T

rs114968209 
NM_001130987.2(DYSF):c.3757277C>T


NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

rs2303603 
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)

rs146970014 
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)

rs34997054 
NM_001130987.2(DYSF):c.3898206A>T


NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)

rs202061751 
NM_001130987.2(DYSF):c.392885G>T


NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)

rs121908954 
NM_001130987.2(DYSF):c.395879C>T


NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)

rs116426399 
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)

rs34603128 
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)

rs147950418 
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)

rs11558179 
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)

rs145401010 
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)

rs61742872 
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=)

rs138751942 
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)

rs2303606 
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)

rs199870606 
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

rs139529811 
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)

rs2303607 
NM_001130987.2(DYSF):c.4221+119A>G


NM_001130987.2(DYSF):c.4221+96C>T


NM_001130987.2(DYSF):c.422220G>A

rs111935215 
NM_001130987.2(DYSF):c.4249C>T (p.Pro1417Ser)

rs376134165 
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

rs138268837 
NM_001130987.2(DYSF):c.429C>T (p.Ser143=)

rs115390288 
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

rs398123787 
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)

rs76576806 
NM_001130987.2(DYSF):c.4387+16_4387+42del

rs750290973 
NM_001130987.2(DYSF):c.4388246C>T


NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)

rs145690047 
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)

rs61738567 
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile)

rs375465887 
NM_001130987.2(DYSF):c.4470A>C (p.Ala1490=)

rs546061624 
NM_001130987.2(DYSF):c.4473C>T (p.Asp1491=)

rs948317553 
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser)

rs766512164 
NM_001130987.2(DYSF):c.4527+141C>G


NM_001130987.2(DYSF):c.4527+192A>G


NM_001130987.2(DYSF):c.4527+204C>A


NM_001130987.2(DYSF):c.4528127C>T


NM_001130987.2(DYSF):c.452856A>G


NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)

rs150139276 
NM_001130987.2(DYSF):c.460+150A>G


NM_001130987.2(DYSF):c.460+17G>C

rs115170960 
NM_001130987.2(DYSF):c.460+222G>A


NM_001130987.2(DYSF):c.460+243G>A


NM_001130987.2(DYSF):c.460+82C>T


NM_001130987.2(DYSF):c.460+9C>A


NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)

rs7573406 
NM_001130987.2(DYSF):c.4627292A>G


NM_001130987.2(DYSF):c.4627305C>T


NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)

rs142483266 
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=)

rs756403845 
NM_001130987.2(DYSF):c.4755+58A>G


NM_001130987.2(DYSF):c.475638G>A


NM_001130987.2(DYSF):c.47563C>T

rs371227553 
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)


NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)

rs62145939 
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)

rs185596534 
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)

rs772664716 
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)

rs146384562 
NM_001130987.2(DYSF):c.5003+1320A>G


NM_001130987.2(DYSF):c.5003+1375C>G


NM_001130987.2(DYSF):c.5003+1380G>A


NM_001130987.2(DYSF):c.5003+1393G>A


NM_001130987.2(DYSF):c.5004162C>T


NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=)

rs149989207 
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)

rs141476432 
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)

rs1057519132 
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)

rs141137410 
NM_001130987.2(DYSF):c.5317+192C>T


NM_001130987.2(DYSF):c.5318225A>G


NM_001130987.2(DYSF):c.5409C>T (p.His1803=)

rs375787986 
NM_001130987.2(DYSF):c.5457+232C>A


NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)

rs145832952 
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)

rs139879284 
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln)

rs762675721 
NM_001130987.2(DYSF):c.55475del


NM_001130987.2(DYSF):c.5546+2T>A

rs1553415233 
NM_001130987.2(DYSF):c.55474C>T

rs373098428 
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)

rs577921112 
NM_001130987.2(DYSF):c.5642+64T>C


NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)

rs886043966 
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala)

rs1024524968 
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)

rs769289729 
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)

rs115013641 
NM_001130987.2(DYSF):c.5784+199A>G


NM_001130987.2(DYSF):c.5785185G>A


NM_001130987.2(DYSF):c.57857G>A

rs753861836 
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

rs121908959 
NM_001130987.2(DYSF):c.5884+71C>T


NM_001130987.2(DYSF):c.588516T>C

rs1863812 
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met)

rs536703008 
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)

rs17718530 
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

rs1064794020 
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)

rs1553420848 
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)

rs1057521141 
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)

rs201784424 
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)

rs34999029 
NM_001130987.2(DYSF):c.6064184T>A


NM_001130987.2(DYSF):c.6064201G>T


NM_001130987.2(DYSF):c.6064273A>G


NM_001130987.2(DYSF):c.606433G>A


NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)

rs398123799 
NM_001130987.2(DYSF):c.6174297T>C


NM_001130987.2(DYSF):c.61748G>A

rs777167646 
NM_001130987.2(DYSF):c.61749C>T

rs201070766 
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)

rs143762717 
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

rs147263499 
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp)

rs200990851 
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)

rs121908955 
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)

rs150834671 
NM_001130987.2(DYSF):c.6270C>T (p.Ile2090=)

rs1231224348 
NM_001130987.2(DYSF):c.6321+15C>T

rs2559082 
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)

rs13407355 
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)

rs35392229 
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)

rs376293526 
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)

rs150029218 
NM_001130987.2(DYSF):c.759+206G>C


NM_001130987.2(DYSF):c.76017C>T

rs61104194 
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)

rs150345121 
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)

rs138054675 
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)

rs150917600 
NM_001130987.2(DYSF):c.828C>T (p.Thr276=)

rs376154300 
NM_001130987.2(DYSF):c.888+11T>C

rs13428076 
NM_001130987.2(DYSF):c.888+97T>C


NM_001130987.2(DYSF):c.889104G>A


NM_001130987.2(DYSF):c.88968G>A


NM_001130987.2(DYSF):c.8896C>T

rs370223980 
NM_001130987.2(DYSF):c.91+280A>G


NM_001130987.2(DYSF):c.923T>C

rs367833503 
NM_001130987.2(DYSF):c.951+190G>T


NM_001130987.2(DYSF):c.951+268T>C


NM_001130987.2(DYSF):c.951+4T>C

rs11903960 
NM_001130987.2(DYSF):c.951+82A>G


NM_001130987.2(DYSF):c.951+83C>T


NM_001130987.2(DYSF):c.952135C>T


NM_001130987.2(DYSF):c.978A>T (p.Thr326=)

rs112007817 
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)

rs140809078 
NM_003494.3(DYSF):c.2643+1G>A

rs140108514 
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)

rs727503909 
NM_003494.3(DYSF):c.28117_28115delTCC

rs761299898 
NM_003494.3(DYSF):c.3113G>A

rs150877497 
NM_003494.3(DYSF):c.4577A>C

rs76086153 
NM_003494.4(DYSF):c.12C>G

rs1553495883 
NM_003494.4(DYSF):c.179C>A


NM_003494.4(DYSF):c.34G>T

rs192358316 
NM_003494.4(DYSF):c.44C>T

rs199569685 
NM_003494.4(DYSF):c.50T>A

rs758686196 
NM_003494.4(DYSF):c.4C>T (p.Leu2=)

rs772536111 
NM_003494.4(DYSF):c.88+12437C>T


NM_003494.4(DYSF):c.88+12487C>A


NM_003494.4(DYSF):c.88+12589T>C

