NC_000002.11:g.(?_71708003)_(71709110_?)del


NC_000002.11:g.(?_71795071)_(71797474_?)del


NC_000002.11:g.(?_71906177)_(71906375_?)del


NC_000002.11:g.71788622_71897384dup


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_001130987.1(DYSF):c.1696dup (p.Glu566Glyfs)

rs398123772 
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)

rs756118312 
NM_001130987.1(DYSF):c.4478_4481dup (p.Ser1495Valfs)

rs1553389065 
NM_001130987.1(DYSF):c.4494dup (p.Thr1499Hisfs)

rs1553389118 
NM_001130987.2(DYSF):c.*107T>G


NM_001130987.2(DYSF):c.*142G>A

rs774156078 
NM_001130987.2(DYSF):c.*179G>A

rs886056284 
NM_001130987.2(DYSF):c.*18A>G

rs1057521877 
NM_001130987.2(DYSF):c.*199T>G

rs13429381 
NM_001130987.2(DYSF):c.*245T>C

rs886056285 
NM_001130987.2(DYSF):c.*267C>G

rs181677134 
NM_001130987.2(DYSF):c.*53G>A

rs114777968 
NM_001130987.2(DYSF):c.*75C>T

rs374833260 
NM_001130987.2(DYSF):c.*78C>T

rs367543759 
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.10032A>G

rs1559065297 
NM_001130987.2(DYSF):c.100373A>G


NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)

rs146687581 
NM_001130987.2(DYSF):c.1033+1G>A

rs201869739 
NM_001130987.2(DYSF):c.1033+230G>T


NM_001130987.2(DYSF):c.1033+43del

rs149875093 
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.1053G>A (p.Lys351=)


NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)

rs768546511 
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)

rs398123764 
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)

rs766891289 
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)

rs571559303 
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu)

rs562361258 
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)


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

rs115279465 
NM_001130987.2(DYSF):c.1149+1G>A

rs398123763 
NM_001130987.2(DYSF):c.1149+54C>T


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

rs1023002894 
NM_001130987.2(DYSF):c.1149+7A>T

rs771741504 
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

rs199955501 
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)


NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)

rs754820811 
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)

rs150724610 
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr)

rs1559079525 
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.1256G>A (p.Arg419Gln)

rs776036392 
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)

rs1559079887 
NM_001130987.2(DYSF):c.1263_1276+1dup

rs863225019 
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)

rs886042389 
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu)

rs767800266 
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)

rs1131691651 
NM_001130987.2(DYSF):c.1274_1276+4dup

rs1553530017 
NM_001130987.2(DYSF):c.1276+11C>T

rs35982795 
NM_001130987.2(DYSF):c.1276+13C>T

rs373530549 
NM_001130987.2(DYSF):c.1276+172A>G


NM_001130987.2(DYSF):c.1276+5G>A

rs766433603 
NM_001130987.2(DYSF):c.12772A>C

rs1553531682 
NM_001130987.2(DYSF):c.127748A>G

rs4852800 
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)

rs374203339 
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)

rs769254776 
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met)

rs144202114 
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)

rs148697028 
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=)

rs779669549 
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)

rs143355224 
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)

rs772240035 
NM_001130987.2(DYSF):c.1332_1334GAA[1] (p.Lys445del)

rs1553531818 
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe)

rs1553531841 
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)

rs766936914 
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)

rs146588926 
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.13812A>G

rs786200897 
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)


NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)

rs150093305 
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)

rs1131691788 
NM_001130987.2(DYSF):c.1413C>A (p.Asn471Lys)

rs398123766 
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)

rs794727119 
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+1G>A

rs1553535902 
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.1454C>T (p.Pro485Leu)


NM_001130987.2(DYSF):c.1458C>T (p.Ser486=)

rs200803090 
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile)


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.1481G>A (p.Arg494His)

rs199879861 
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)

rs398123767 
NM_001130987.2(DYSF):c.1493+13T>C

rs886056279 
NM_001130987.2(DYSF):c.1493+1G>A

rs1553536007 
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter)

rs1559100639 
NM_001130987.2(DYSF):c.1494163G>T


NM_001130987.2(DYSF):c.14941G>A

rs398123768 
NM_001130987.2(DYSF):c.14942A>G

rs398123769 
NM_001130987.2(DYSF):c.149476G>A


NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)

rs185119682 
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=)

rs886056280 
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser)

rs748826870 
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.1544C>A (p.Ser515Ter)

rs139258703 
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)


NM_001130987.2(DYSF):c.1560del (p.Gly521fs)

rs1456182703 
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)

rs1559109621 
NM_001130987.2(DYSF):c.1576+118G>A


NM_001130987.2(DYSF):c.1576+18T>C

rs768373625 
NM_001130987.2(DYSF):c.1576+253T>A


NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu)

rs886044537 
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.15771639G>C

rs767550929 
NM_001130987.2(DYSF):c.15771651delinsAA

rs1553541329 
NM_001130987.2(DYSF):c.15771664C>T


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

rs1057524492 
NM_001130987.2(DYSF):c.15771686C>G


NM_001130987.2(DYSF):c.15771686C>T

rs368577086 
NM_001130987.2(DYSF):c.15771692G>A

rs398123770 
NM_001130987.2(DYSF):c.15771699C>T

rs183489578 
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.15772A>G

rs1553542142 
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)

rs1553508863 
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs)

rs1559136308 
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)

rs886042641 
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

rs121908962 
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)

rs777489323 
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)

rs139495331 
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)


NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)

rs541663451 
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)

rs863225020 
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg)

rs1176279921 
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr)

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


NM_001130987.2(DYSF):c.1692+2T>A

rs398123771 
NM_001130987.2(DYSF):c.169362C>T


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

rs886039573 
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)

rs767415886 
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His)

rs1368149283 
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=)

rs1559138079 
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)

rs377735262 
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)


NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)

rs200916654 
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal)

rs1446214240 
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)

rs370872013 
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs)

rs1553542773 
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)


NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)

rs201515915 
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)

rs35984374 
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu)


NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)

rs149386446 
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.180710C>T

rs749361351 
NM_001130987.2(DYSF):c.180713T>C


NM_001130987.2(DYSF):c.180724C>G

rs2303595 
NM_001130987.2(DYSF):c.1807288T>C


NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

rs1553543506 
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His)


NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs)

rs1559141367 
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val)

rs146261069 
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)


NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)

rs121908953 
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.1906G>A (p.Gly636Arg)

rs201049092 
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)

rs201049092 
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)

rs35721373 
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)

rs886043900 
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)

rs769518034 
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)

rs121908960 
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)

rs141867897 
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=)

rs768043804 
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.1976_1984+3dup

rs1559142399 
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.19852del

rs774047700 
NM_001130987.2(DYSF):c.198531C>A

rs13424178 
NM_001130987.2(DYSF):c.19854C>G

rs374489513 
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=)

rs1553544209 
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)

rs538170367 
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)

rs199565036 
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.2038T>A (p.Ser680Thr)

rs765027098 
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)

rs121908957 
NM_001130987.2(DYSF):c.205G>A (p.Val69Met)


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

rs114986640 
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)

rs770228554 
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

rs886042878 
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn)


NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)

rs148652047 
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)


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

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


NM_001130987.2(DYSF):c.211043G>T

rs72827543 
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser)


NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)

rs145007061 
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)

rs201239189 
NM_001130987.2(DYSF):c.2153G>A (p.Cys718Tyr)

rs886042275 
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)

rs775539496 
NM_001130987.2(DYSF):c.2166C>T (p.Asp722=)

rs766639423 
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)

rs182450244 
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=)

rs373820597 
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)

rs754177085 
NM_001130987.2(DYSF):c.2216+16C>T

rs111389127 
NM_001130987.2(DYSF):c.2216+9dup

rs760948624 
NM_001130987.2(DYSF):c.221711G>A

rs200853014 
NM_001130987.2(DYSF):c.22172A>G

rs747289205 
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=)

rs145868833 
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys)


NM_001130987.2(DYSF):c.224C>T (p.Thr75Met)

rs767340310 
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.231G>A (p.Gly77=)

rs1553508988 
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg)

rs372475742 
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)

rs116204385 
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)

rs138654170 
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)

rs398123773 
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)

rs553605812 
NM_001130987.2(DYSF):c.2371del (p.Glu791fs)

rs1559162638 
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter)

rs1559162681 
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)

rs143568054 
NM_001130987.2(DYSF):c.239+16G>C

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

rs12470028 
NM_001130987.2(DYSF):c.239+31C>G

rs78958249 
NM_001130987.2(DYSF):c.239+8G>A


NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)

rs763456750 
NM_001130987.2(DYSF):c.2401G>A

rs1553518087 
NM_001130987.2(DYSF):c.240289G>A


NM_001130987.2(DYSF):c.2405C>T

rs1559021086 
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)

rs147139414 
NM_001130987.2(DYSF):c.2409+14G>A

rs141170955 
NM_001130987.2(DYSF):c.2409+1G>A

rs151317754 
NM_001130987.2(DYSF):c.2410117A>G


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

rs560856407 
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=)

rs762226707 
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)

rs121908956 
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)


NM_001130987.2(DYSF):c.2426dup (p.Asp810fs)

rs752479889 
NM_001130987.2(DYSF):c.2427G>A (p.Pro809=)

rs139422989 
NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys)

rs1553550862 
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)

rs759675023 
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup)

rs1326126736 
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)

rs35297901 
NM_001130987.2(DYSF):c.2484C>T (p.Pro828=)

rs143667543 
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)


NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)


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

rs371841411 
NM_001130987.2(DYSF):c.2524del (p.Cys842fs)

rs1553551006 
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys)

rs199543257 
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)

rs199543257 
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)

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


NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)


NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)

rs143632564 
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)

rs200487610 
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln)

rs781777155 
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro)

rs779790516 
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.2668G>A (p.Glu890Lys)

rs200049922 
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=)

rs530181166 
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)

rs794727636 
NM_001130987.2(DYSF):c.26982A>G

rs1420930684 
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)


NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)

rs149979662 
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)

rs398123775 
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys)

rs770997582 
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)

rs201622087 
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)


NM_001130987.2(DYSF):c.2760dup (p.Lys921fs)

rs1559177278 
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del)

rs1553553762 
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)

rs886056281 
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr)

rs759171890 
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)

rs759171890 
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His)

rs765601966 
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)

rs535323489 
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.2821G>A (p.Gly941Ser)


NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)

rs727503910 
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)


NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)

rs150717638 
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)

rs34836829 
NM_001130987.2(DYSF):c.2860A>G (p.Lys954Glu)

rs1038837599 
NM_001130987.2(DYSF):c.2864+1G>A

rs199954546 
NM_001130987.2(DYSF):c.2864+244G>C


NM_001130987.2(DYSF):c.2864+5G>A

rs886044131 
NM_001130987.2(DYSF):c.2864+84G>C


NM_001130987.2(DYSF):c.2864+8G>A

rs371686795 
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)

rs201209494 
NM_001130987.2(DYSF):c.28652A>C

rs886043964 
NM_001130987.2(DYSF):c.286585C>G


NM_001130987.2(DYSF):c.2875G>C (p.Asp959His)

rs1553554968 
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=)

rs143775913 
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)


NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala)


NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)

rs762400168 
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=)

rs767589708 
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)

rs398123776 
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)

rs398123777 
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

rs202218890 
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg)

rs151064013 
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

rs144636654 
NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile)


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.298_300del (p.Ala100del)

rs1316197789 
NM_001130987.2(DYSF):c.3000C>A (p.Pro1000=)

rs368460619 
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)

rs34061568 
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val)

rs1559183642 
NM_001130987.2(DYSF):c.301A>G (p.Ser101Gly)

rs1553518141 
NM_001130987.2(DYSF):c.3024G>A (p.Leu1008=)

rs1553555439 
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)

rs750028300 
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys)


NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

rs28937581 
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)

rs886042550 
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)

rs772518246 
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp)

rs778316824 
NM_001130987.2(DYSF):c.3085+1G>T

rs1553555585 
NM_001130987.2(DYSF):c.308617G>A

rs3764971 
NM_001130987.2(DYSF):c.308617G>T

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

rs185350547 
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)

rs201834175 
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

rs756328339 
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup)

rs1553555901 
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met)

rs768787171 
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu)


NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)

rs143475751 
NM_001130987.2(DYSF):c.3113C>A (p.Pro1038Gln)

rs764931697 
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)

rs764931697 
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)

rs398123778 
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val)

rs1237272381 
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)


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.3139C>G (p.Pro1047Ala)

rs1358370392 
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala)

rs550721009 
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg)


NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)

rs770883682 
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr)


NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del)

rs1559185944 
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)


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

rs369607332 
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)

rs760443264 
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)

rs374934430 
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)


NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)

rs144598063 
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)


NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)

rs752810646 
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

rs121908958 
NM_001130987.2(DYSF):c.3228+13G>A

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


NM_001130987.2(DYSF):c.3228+7C>T

rs534331009 
NM_001130987.2(DYSF):c.3228+8_3228+33del

rs1553556251 
NM_001130987.2(DYSF):c.3229306G>A


NM_001130987.2(DYSF):c.322931G>A

rs72902605 
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.3239_3244CGGAGG[4] (p.1080_1081AE[4])

rs398123779 
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)

rs150355624 
NM_001130987.2(DYSF):c.3270_3271CT[2] (p.Leu1092fs)


NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)

rs144936357 
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)

rs201477760 
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile)

rs1553361773 
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys)

rs377079619 
NM_001130987.2(DYSF):c.3322_3324CGC[5] (p.Arg1111dup)

rs779680055 
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)


NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)

rs372817333 
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del)

rs1553361884 
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.3343C>T (p.Arg1115Cys)

rs147483765 
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His)

rs749610930 
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)

rs746315830 
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)

rs1558513494 
NM_001130987.2(DYSF):c.3379_3380GT[1] (p.Phe1128fs)

rs398123780 
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser)


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.34032A>G

rs370874727 
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)

rs144634077 
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)

rs748542672 
NM_001130987.2(DYSF):c.342del (p.Ala116fs)

rs886042379 
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)

rs148925399 
NM_001130987.2(DYSF):c.3444C>T (p.Val1148=)

rs1558552487 
NM_001130987.2(DYSF):c.345+8C>T

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

rs576372858 
NM_001130987.2(DYSF):c.34617C>T

rs370498369 
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)


NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)

rs576460368 
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn)

rs761528558 
NM_001130987.2(DYSF):c.3496+14C>T

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


NM_001130987.2(DYSF):c.349733A>G

rs786205083 
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)

rs758944159 
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)

rs398123781 
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)


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

rs200719174 
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)


NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)


NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)

rs886042091 
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp)

rs759297236 
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)

rs139194093 
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)

rs201319864 
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val)

rs1442583354 
NM_001130987.2(DYSF):c.3564_3565CT[1] (p.Ser1189fs)

rs886042827 
NM_001130987.2(DYSF):c.356del (p.Val119fs)

rs398123782 
NM_001130987.2(DYSF):c.3574+26C>G

rs115981643 
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.361C>T (p.Gln121Ter)

rs1423123313 
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)

rs1380642629 
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met)

rs1294912316 
NM_001130987.2(DYSF):c.3665_3667TCT[1] (p.Phe1223del)

rs1173583014 
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=)

rs143393575 
NM_001130987.2(DYSF):c.3673G>A (p.Glu1225Lys)


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.3695del (p.Pro1232fs)

rs398123783 
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=)

rs139364929 
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del)

rs748683903 
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)


NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr)

rs1553375353 
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)

rs886056278 
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)


NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)


NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)


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.3778C>T (p.Arg1260Cys)

rs369170272 
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

rs2303603 
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs)

rs1558583697 
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)

rs377056951 
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu)

rs539141161 
NM_001130987.2(DYSF):c.3795G>A (p.Pro1265=)

rs922788254 
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)


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

rs146970014 
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)

rs1553376558 
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)


NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)


NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)

rs761916273 
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)

rs139983909 
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

rs763674597 
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)

rs34997054 
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)

rs727503911 
NM_001130987.2(DYSF):c.3897+1G>A

rs1553376691 
NM_001130987.2(DYSF):c.3898206A>T


NM_001130987.2(DYSF):c.38984C>G

rs555206040 
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=)

rs772742658 
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)

rs202061751 
NM_001130987.2(DYSF):c.3927+10G>A

rs886056282 
NM_001130987.2(DYSF):c.392810T>C

rs1558589946 
NM_001130987.2(DYSF):c.392885G>T


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

rs121908954 
NM_001130987.2(DYSF):c.3957+2T>A

rs1553377764 
NM_001130987.2(DYSF):c.395879C>T


NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)


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

rs116426399 
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)

rs1553381945 
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)

rs34603128 
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs)

rs398123784 
NM_001130987.2(DYSF):c.397C>T (p.Leu133=)

rs886043009 
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)

rs1558613592 
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.4037C>T (p.Ala1346Val)

rs201476613 
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)


NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

rs778092738 
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys)


NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)


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

rs61742872 
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)

rs773837400 
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=)

rs138751942 
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)


NM_001130987.2(DYSF):c.4059+8G>A

rs770831705 
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=)

rs773542731 
NM_001130987.2(DYSF):c.406040C>T

rs2303605 
NM_001130987.2(DYSF):c.40607T>A


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.4079G>A (p.Arg1360Gln)

rs747583441 
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

rs139529811 
NM_001130987.2(DYSF):c.410del (p.Pro137fs)

rs886043342 
NM_001130987.2(DYSF):c.4111_4113TCC[1] (p.Ser1372del)

rs398123785 
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)

rs2303607 
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)

rs773240314 
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met)

rs760627822 
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile)

rs766841136 
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)

rs145412880 
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)


NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)

rs1404000468 
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)


NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp)

rs368601323 
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys)

rs536906283 
NM_001130987.2(DYSF):c.4221+119A>G


NM_001130987.2(DYSF):c.4221+1G>C

rs1474151297 
NM_001130987.2(DYSF):c.4221+96C>T


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

rs111935215 
NM_001130987.2(DYSF):c.42226A>T

rs745775405 
NM_001130987.2(DYSF):c.4242C>T (p.Leu1414=)

rs952978128 
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys)

rs775254512 
NM_001130987.2(DYSF):c.4249C>G (p.Pro1417Ala)


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

rs376134165 
NM_001130987.2(DYSF):c.424C>G (p.Pro142Ala)

rs1419483491 
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)

rs151268930 
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

rs138268837 
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)

rs142769942 
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)

rs398123786 
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=)


NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys)

rs138097846 
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His)


NM_001130987.2(DYSF):c.4290_4292CCG[1] (p.Arg1432del)

rs765090357 
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys)


NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)


NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln)

rs761337469 
NM_001130987.2(DYSF):c.429C>T (p.Ser143=)

rs115390288 
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)

rs766924837 
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

rs398123787 
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)

rs139654844 
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)

rs377706756 
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys)


NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)

rs886043145 
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)

rs139411595 
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)


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.4387+3_4387+28del

rs1553383255 
NM_001130987.2(DYSF):c.4388246C>T


NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)

rs61746816 
NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs)


NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=)

rs374705038 
NM_001130987.2(DYSF):c.4421T>C (p.Val1474Ala)


NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)


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.443A>G (p.Asp148Gly)


NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)


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

rs375465887 
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

rs886044411 
NM_001130987.2(DYSF):c.4464+7T>C

rs369949055 
NM_001130987.2(DYSF):c.44651G>A

rs1553389041 
NM_001130987.2(DYSF):c.44658A>G


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.4503G>A (p.Thr1501=)

rs531996668 
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.45282A>G

rs1213965862 
NM_001130987.2(DYSF):c.452856A>G


NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys)


NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)

rs148055736 
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

rs766016391 
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)

rs398123788 
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)

rs544993852 
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter)

rs778185705 
NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=)

rs778185705 
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)

rs150139276 
NM_001130987.2(DYSF):c.45G>A (p.Ala15=)

rs972675695 
NM_001130987.2(DYSF):c.460+150A>G


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

rs115170960 
NM_001130987.2(DYSF):c.460+1G>A

rs1278864604 
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.4608G>T (p.Lys1536Asn)

rs182185801 
NM_001130987.2(DYSF):c.4611G>A

rs1553520795 
NM_001130987.2(DYSF):c.4619C>A (p.Thr1540Asn)


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

rs7573406 
NM_001130987.2(DYSF):c.4626+1G>A

rs1558708492 
NM_001130987.2(DYSF):c.4626+43A>G

rs84182 
NM_001130987.2(DYSF):c.4627292A>G


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


NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)

rs143895253 
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)

rs142483266 
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)

rs757820496 
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=)

rs756403845 
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)

rs1553408378 
NM_001130987.2(DYSF):c.4671G>A (p.Leu1557=)

rs749333686 
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)

rs770905160 
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)

rs375698433 
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)


NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)


NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=)

rs369750372 
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)


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


NM_001130987.2(DYSF):c.4755+8C>T

rs1278005040 
NM_001130987.2(DYSF):c.475638G>A


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

rs371227553 
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs)

rs1179051248 
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)

rs149768871 
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)

rs146213322 
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val)


NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)

rs778065845 
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly)

rs1558750109 
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr)

rs1298041271 
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)


NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter)

rs1163488527 
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly)

rs933715192 
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)

rs62145939 
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)

rs752946123 
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)

rs185596534 
NM_001130987.2(DYSF):c.4865A>G (p.Tyr1622Cys)

rs797045541 
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)

rs571364996 
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)

rs398123789 
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)

rs772664716 
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)

rs1558750788 
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)

rs141704244 
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)

rs763309812 
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)

rs138357301 
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)

rs146384562 
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)

rs1057516051 
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys)

rs759505768 
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)

rs142301132 
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)

rs786200896 
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)

rs147056383 
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)


NM_001130987.2(DYSF):c.5003+1249G>T

rs886042110 
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.500437C>T

rs2303599 
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)

rs151276652 
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter)

rs398123790 
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.5063A>G (p.Asp1688Gly)


NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val)


NM_001130987.2(DYSF):c.5071_5073CTC[1] (p.Leu1692del)

rs1163037004 
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)


NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)

rs149087116 
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)

rs143059463 
NM_001130987.2(DYSF):c.5106C>T (p.Val1702=)

rs778238756 
NM_001130987.2(DYSF):c.5138T>C (p.Phe1713Ser)

rs886044317 
NM_001130987.2(DYSF):c.5139T>G (p.Phe1713Leu)

rs1305077427 
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)

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

rs141137410 
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)

rs771735871 
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)

rs138472236 
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

rs753279446 
NM_001130987.2(DYSF):c.5174+2T>C

rs1553412826 
NM_001130987.2(DYSF):c.5174+5G>A

rs745891180 
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)


NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)

rs146153532 
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)

rs863225021 
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)

rs886044422 
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)

rs1558771348 
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)


NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)

rs149408006 
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)

rs1558771751 
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe)

rs755108809 
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)

rs148541407 
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)


NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)

rs746919714 
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)


NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)

rs147678255 
NM_001130987.2(DYSF):c.5317+192C>T


NM_001130987.2(DYSF):c.5317+1G>A

rs773386253 
NM_001130987.2(DYSF):c.5318225A>G


NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)

rs121908961 
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)

rs145272777 
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)


NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)

rs545645581 
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)

rs531935195 
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe)

rs1558778541 
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)

rs727503912 
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg)

rs1558778744 
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln)


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

rs375787986 
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)

rs746243052 
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)

rs148860301 
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)

rs137855767 
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)


NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)

rs769873428 
NM_001130987.2(DYSF):c.5457+1G>A

rs1553414413 
NM_001130987.2(DYSF):c.5457+232C>A


NM_001130987.2(DYSF):c.545817G>A

rs147638721 
NM_001130987.2(DYSF):c.54582A>C

rs398123792 
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)

rs1553415109 
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)

rs145143725 
NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu)

rs794727690 
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.5516_5517dup (p.Phe1840fs)

rs1558783870 
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)

rs886056283 
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)

rs369627849 
NM_001130987.2(DYSF):c.55475del


NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val)

rs1436866611 
NM_001130987.2(DYSF):c.5546+1G>T

rs398123793 
NM_001130987.2(DYSF):c.5546+2T>A

rs1553415233 
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

rs786205084 
NM_001130987.2(DYSF):c.55474C>T

rs373098428 
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)

rs1280185461 
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His)

rs372895279 
NM_001130987.2(DYSF):c.5560T>C (p.Cys1854Arg)

rs1558785198 
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)

rs886042584 
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)

rs781732915 
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)

rs200970855 
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

rs199649417 
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)


NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

rs201592500 
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)

rs577921112 
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

rs398123794 
NM_001130987.2(DYSF):c.5642+1G>A

rs727503915 
NM_001130987.2(DYSF):c.5642+64T>C


NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)

rs1131692158 
NM_001130987.2(DYSF):c.564312A>G

rs375507062 
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)

rs886043966 
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)

rs1553416039 
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)

rs151054827 
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val)

rs1553416071 
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)

rs1024524968 
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala)

rs1024524968 
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)

rs786205081 
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile)

rs1558787823 
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)


NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter)

rs1558787893 
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)

rs886043028 
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.5746T>C (p.Tyr1916His)

rs762258343 
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)

rs398123795 
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe)

rs886044130 
NM_001130987.2(DYSF):c.5784+10C>T

rs758268866 
NM_001130987.2(DYSF):c.5784+199A>G


NM_001130987.2(DYSF):c.5784+1G>A

rs909564120 
NM_001130987.2(DYSF):c.5784+8T>C

rs1558788338 
NM_001130987.2(DYSF):c.5785185G>A


NM_001130987.2(DYSF):c.57851G>C

rs751473506 
NM_001130987.2(DYSF):c.578541C>T

rs2559081 
NM_001130987.2(DYSF):c.57857G>A

rs753861836 
NM_001130987.2(DYSF):c.57858C>T

rs201191038 
NM_001130987.2(DYSF):c.5813_5814AG[1] (p.Ser1939fs)

rs398123796 
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

rs121908959 
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)

rs772521748 
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)

rs750860886 
NM_001130987.2(DYSF):c.5884+71C>T


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

rs1863812 
NM_001130987.2(DYSF):c.58851G>C

rs771257070 
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)

rs144116735 
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr)

rs1254719758 
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)


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

rs536703008 
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)

rs398123797 
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)

rs17718530 
NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)


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.6063+1G>A

rs398123798 
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)

rs138936064 
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.606G>A (p.Ala202=)

rs398123791 
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=)

rs775417000 
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly)

rs773799968 
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)

rs398123799 
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)

rs886042318 
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)

rs201890095 
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

rs115407852 
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp)

rs200921075 
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)

rs886043489 
NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer)

rs1558817973 
NM_001130987.2(DYSF):c.6173+4A>C

rs749127704 
NM_001130987.2(DYSF):c.6174297T>C


NM_001130987.2(DYSF):c.61742A>G

rs1451269647 
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.6175C>T (p.Arg2059Cys)

rs370286628 
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

rs147263499 
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile)

rs557683788 
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)

rs1553521017 
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.6247C>T (p.Arg2083Trp)

rs185617318 
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)

rs1553422709 
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)

rs1553422723 
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)

rs150834671 
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[1] (p.2087_2090ILFI[1])

rs749619435 
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[3] (p.2087_2090ILFI[3])

rs749619435 
NM_001130987.2(DYSF):c.6268_6270ATC[1] (p.Ile2091del)

rs1553422765 
NM_001130987.2(DYSF):c.6270C>T (p.Ile2090=)

rs1231224348 
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)

rs143562525 
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)


NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

rs746663568 
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)

rs149732545 
NM_001130987.2(DYSF):c.6321+15C>T

rs2559082 
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)

rs768820090 
NM_001130987.2(DYSF):c.6358T>G (p.Ter2120Gly)

rs1327953255 
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser)


NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu)

rs752497222 
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.671G>A (p.Arg224His)


NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)

rs201980470 
NM_001130987.2(DYSF):c.682dup (p.His228fs)

rs886042680 
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)

rs376293526 
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)

rs373585652 
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)

rs150029218 
NM_001130987.2(DYSF):c.730del (p.Leu244fs)

rs1553521119 
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro)

rs1559048753 
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)

rs147876220 
NM_001130987.2(DYSF):c.751G>A (p.Asp251Asn)


NM_001130987.2(DYSF):c.759+10G>A

rs200198865 
NM_001130987.2(DYSF):c.759+1G>C

rs398123800 
NM_001130987.2(DYSF):c.759+206G>C


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

rs61104194 
NM_001130987.2(DYSF):c.7607_7606delinsATCC

rs1553521641 
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.794C>T (p.Pro265Leu)

rs143053635 
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)


NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)

rs141497053 
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)

rs750724439 
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)

rs150917600 
NM_001130987.2(DYSF):c.826_836delinsGCCCT (p.Thr276_Gly279delinsAlaLeu)

rs398123801 
NM_001130987.2(DYSF):c.828C>T (p.Thr276=)

rs376154300 
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)

rs398123802 
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)

rs140002194 
NM_001130987.2(DYSF):c.860A>C (p.His287Pro)

rs398123803 
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)

rs1559053603 
NM_001130987.2(DYSF):c.877C>T (p.Leu293Phe)

rs398123804 
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)

rs777785781 
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)

rs794727851 
NM_001130987.2(DYSF):c.888+11T>C

rs13428076 
NM_001130987.2(DYSF):c.888+1G>A

rs886044377 
NM_001130987.2(DYSF):c.888+97T>C


NM_001130987.2(DYSF):c.888G>C (p.Glu296Asp)

rs398123805 
NM_001130987.2(DYSF):c.889104G>A


NM_001130987.2(DYSF):c.88934C>T

rs115184725 
NM_001130987.2(DYSF):c.88968G>A


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

rs370223980 
NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs)

rs1553522104 
NM_001130987.2(DYSF):c.893T>G (p.Leu298Arg)

rs398123806 
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)


NM_001130987.2(DYSF):c.906G>A (p.Leu302=)

rs916319528 
NM_001130987.2(DYSF):c.91+280A>G


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

rs367833503 
NM_001130987.2(DYSF):c.922del (p.Glu308fs)

rs1553522133 
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)

rs1553522164 
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)

rs372952394 
NM_001130987.2(DYSF):c.951+190G>T


NM_001130987.2(DYSF):c.951+1del

rs786200898 
NM_001130987.2(DYSF):c.951+268T>C


NM_001130987.2(DYSF):c.951+39T>C

rs74384941 
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.9522A>G

rs1553522730 
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)

rs398123807 
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)

rs1553522751 
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)

rs398123808 
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys)

rs776921154 
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe)

rs776921154 
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)

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

rs140809078 
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)

rs121908963 
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)

rs121908963 
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)

rs1258728780 
NM_003494.3(DYSF):c.1480+1delG

rs1553537332 
NM_003494.3(DYSF):c.1642delG (p.Glu548Lysfs)

rs398123772 
NM_003494.3(DYSF):c.25121495_3148del


NM_003494.3(DYSF):c.25121496_3149del


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.3383dup (p.Met1128Ilefs)

rs1553370437 
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)

rs886042504 
NM_003494.3(DYSF):c.3516_3517delTT

rs766341386 
NM_003494.3(DYSF):c.4577A>C

rs76086153 
NM_003494.3(DYSF):c.5057+6_5057+7dup

rs1553412837 
NM_003494.3(DYSF):c.5078G>A

rs779987458 
NM_003494.3(DYSF):c.88+12805_88+12807delAAG

rs1553501109 
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]


NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]


NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]


NM_003494.4(DYSF):c.*107T>A

rs11903223 
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.7G>A

rs1558905040 
NM_003494.4(DYSF):c.1020C>G (p.Ser340Arg)

rs766891289 
NM_003494.4(DYSF):c.1053+4A>G

rs761302882 
NM_003494.4(DYSF):c.105443_1059delinsA


NM_003494.4(DYSF):c.1064A>G (p.Lys355Arg)

rs886043914 
NM_003494.4(DYSF):c.1071C>G (p.Pro357=)

rs886042490 
NM_003494.4(DYSF):c.1071C>T (p.Pro357=)

rs886042490 
NM_003494.4(DYSF):c.1071del (p.Ser358fs)

rs886044355 
NM_003494.4(DYSF):c.1133G>A (p.Gly378Glu)

rs746610724 
NM_003494.4(DYSF):c.1160G>C (p.Arg387Pro)

rs776036392 
NM_003494.4(DYSF):c.1162dup (p.Ala388fs)

rs779969348 
NM_003494.4(DYSF):c.1171_1180+4dup

rs1553529974 
NM_003494.4(DYSF):c.1180+5G>C

rs766433603 
NM_003494.4(DYSF):c.1184A>C (p.Asp395Ala)

rs1553531687 
NM_003494.4(DYSF):c.1185C>T (p.Asp395=)

rs147244033 
NM_003494.4(DYSF):c.1225G>A (p.Glu409Lys)

rs886043461 
NM_003494.4(DYSF):c.1236G>T (p.Lys412Asn)

rs886043169 
NM_003494.4(DYSF):c.1250A>G (p.Asp417Gly)

rs1553531854 
NM_003494.4(DYSF):c.1268G>C (p.Ser423Thr)

rs371593605 
NM_003494.4(DYSF):c.1275G>C (p.Ala425=)

rs140667960 
NM_003494.4(DYSF):c.1276G>A (p.Gly426Arg)

rs886042093 
NM_003494.4(DYSF):c.1284+9C>T


NM_003494.4(DYSF):c.1292G>T (p.Ser431Ile)

rs1553535807 
NM_003494.4(DYSF):c.132T>C (p.Pro44=)

rs886043852 
NM_003494.4(DYSF):c.13543_13542del

rs886043328 
NM_003494.4(DYSF):c.13546C>T

rs757776087 
NM_003494.4(DYSF):c.1375dup (p.Met459fs)

rs1236367931 
NM_003494.4(DYSF):c.1397+2dup

rs753885022 
NM_003494.4(DYSF):c.1397+5G>A


NM_003494.4(DYSF):c.1400A>G (p.Asp467Gly)

rs886044185 
NM_003494.4(DYSF):c.1434del (p.Tyr479fs)

rs786205632 
NM_003494.4(DYSF):c.1449G>A (p.Ser483=)

rs755103680 
NM_003494.4(DYSF):c.1480+1G>A

rs886044258 
NM_003494.4(DYSF):c.1509G>A (p.Ser503=)

rs760021808 
NM_003494.4(DYSF):c.1517C>G (p.Ser506Ter)

rs886044410 
NM_003494.4(DYSF):c.15231G>A

rs189923208 
NM_003494.4(DYSF):c.1614C>A (p.Pro538=)

rs180970066 
NM_003494.4(DYSF):c.1638+7C>T

rs775395972 
NM_003494.4(DYSF):c.1708C>T (p.Gln570Ter)

rs886042633 
NM_003494.4(DYSF):c.1768C>T (p.Arg590Cys)

rs745472489 
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)

rs1354334539 
NM_003494.4(DYSF):c.1828G>A (p.Ala610Thr)

rs886043941 
NM_003494.4(DYSF):c.1865A>C (p.Asn622Thr)

rs886043196 
NM_003494.4(DYSF):c.1868del (p.Lys623fs)


NM_003494.4(DYSF):c.1931G>A (p.Gly644Glu)

rs886042863 
NM_003494.4(DYSF):c.1956G>A (p.Trp652Ter)

rs794727343 
NM_003494.4(DYSF):c.1A>G (p.Met1Val)

rs1259378167 
NM_003494.4(DYSF):c.2016C>T (p.Ile672=)

rs746480529 
NM_003494.4(DYSF):c.2016del (p.Ile672fs)


NM_003494.4(DYSF):c.2034del (p.Ile681fs)

rs886044390 
NM_003494.4(DYSF):c.2042T>C (p.Ile681Thr)

rs886043230 
NM_003494.4(DYSF):c.2049C>G (p.Asp683Glu)

rs886044378 
NM_003494.4(DYSF):c.2079C>T (p.His693=)

rs1243434554 
NM_003494.4(DYSF):c.2120C>G (p.Ser707Trp)


NM_003494.4(DYSF):c.2162+6G>C

rs747059895 
NM_003494.4(DYSF):c.2162G>C (p.Ser721Thr)

rs143304754 
NM_003494.4(DYSF):c.21631G>T

rs886044379 
NM_003494.4(DYSF):c.2248C>T (p.Gln750Ter)

rs1027145211 
NM_003494.4(DYSF):c.2290G>T (p.Glu764Ter)

rs886043901 
NM_003494.4(DYSF):c.2352_2355+1del

rs398123774 
NM_003494.4(DYSF):c.2357C>A (p.Pro786His)

rs768226528 
NM_003494.4(DYSF):c.2366G>C (p.Ser789Thr)

rs886043898 
NM_003494.4(DYSF):c.2376T>A

rs896011451 
NM_003494.4(DYSF):c.2428C>T (p.Pro810Ser)

rs146819460 
NM_003494.4(DYSF):c.2431G>T (p.Ala811Ser)

rs562925562 
NM_003494.4(DYSF):c.243G>A (p.Leu81=)

rs756463088 
NM_003494.4(DYSF):c.2456G>A (p.Arg819Gln)

rs748636047 
NM_003494.4(DYSF):c.2460T>G (p.Gly820=)

rs772432464 
NM_003494.4(DYSF):c.2496_2499del (p.Thr833fs)

rs755849745 
NM_003494.4(DYSF):c.2516C>T (p.Pro839Leu)

rs759412160 
NM_003494.4(DYSF):c.251C>T (p.Ala84Val)

rs772008300 
NM_003494.4(DYSF):c.2557C>T (p.Arg853Trp)

rs749542779 
NM_003494.4(DYSF):c.2638G>A (p.Glu880Lys)

rs886043846 
NM_003494.4(DYSF):c.2726G>T (p.Gly909Val)

rs1553553778 
NM_003494.4(DYSF):c.276C>T (p.Leu92=)

rs138870937 
NM_003494.4(DYSF):c.2772G>A (p.Trp924Ter)

rs1553553888 
NM_003494.4(DYSF):c.2779G>A (p.Ala927Thr)

rs886043185 
NM_003494.4(DYSF):c.2790G>T (p.Trp930Cys)

rs727503910 
NM_003494.4(DYSF):c.2810+2T>A

rs1553553943 
NM_003494.4(DYSF):c.2812C>G (p.Leu938Val)

rs777421461 
NM_003494.4(DYSF):c.2838C>T (p.His946=)

rs886044637 
NM_003494.4(DYSF):c.2872A>G (p.Thr958Ala)

rs886044026 
NM_003494.4(DYSF):c.2889C>T (p.Gly963=)

rs886042637 
NM_003494.4(DYSF):c.2894G>A (p.Trp965Ter)

rs1268594965 
NM_003494.4(DYSF):c.2929G>A (p.Gly977Arg)

rs778427145 
NM_003494.4(DYSF):c.2995T>C (p.Trp999Arg)

rs886044098 
NM_003494.4(DYSF):c.2998T>C (p.Ser1000Pro)

rs886042550 
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)

rs1459713589 
NM_003494.4(DYSF):c.3022G>A (p.Asp1008Asn)

rs200943384 
NM_003494.4(DYSF):c.3026A>T (p.Glu1009Val)

rs886044474 
NM_003494.4(DYSF):c.3031+2T>C

rs886042951 
NM_003494.4(DYSF):c.3071C>T (p.Pro1024Leu)

rs372880553 
NM_003494.4(DYSF):c.308C>T (p.Ala103Val)

rs767981823 
NM_003494.4(DYSF):c.3118C>T (p.Arg1040Trp)

rs1553556116 
NM_003494.4(DYSF):c.3122G>A (p.Arg1041His)

rs754763074 
NM_003494.4(DYSF):c.3130C>T (p.Arg1044Cys)

rs539727858 
NM_003494.4(DYSF):c.31755T>C

rs794727532 
NM_003494.4(DYSF):c.3230G>A (p.Trp1077Ter)

rs794727534 
NM_003494.4(DYSF):c.3231G>C (p.Trp1077Cys)

rs886043890 
NM_003494.4(DYSF):c.3243C>A (p.Leu1081=)

rs144936357 
NM_003494.4(DYSF):c.3250C>T (p.Arg1084Cys)

rs764208388 
NM_003494.4(DYSF):c.3260_3262dup (p.Asp1087dup)

rs1553361783 
NM_003494.4(DYSF):c.3261T>G (p.Asp1087Glu)

rs886043916 
NM_003494.4(DYSF):c.3272G>A (p.Arg1091His)

rs752424049 
NM_003494.4(DYSF):c.3392C>T (p.Ser1131Phe)

rs959125009 
NM_003494.4(DYSF):c.3404T>C (p.Phe1135Ser)

rs886044487 
NM_003494.4(DYSF):c.3422C>T (p.Thr1141Met)

rs140058659 
NM_003494.4(DYSF):c.3429del (p.Cys1144fs)

rs886042632 
NM_003494.4(DYSF):c.3439G>C (p.Asp1147His)

rs761528558 
NM_003494.4(DYSF):c.3445G>A (p.Gly1149Arg)

rs751942463 
NM_003494.4(DYSF):c.3447G>A (p.Gly1149=)

rs138317526 
NM_003494.4(DYSF):c.3452G>A (p.Arg1151His)

rs780134612 
NM_003494.4(DYSF):c.3466T>C (p.Cys1156Arg)

rs886044028 
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs)

rs766341386 
NM_003494.4(DYSF):c.3520+5G>A

rs886043276 
NM_003494.4(DYSF):c.3535G>T (p.Val1179Phe)

rs754075406 
NM_003494.4(DYSF):c.3662C>T (p.Pro1221Leu)

rs368556029 
NM_003494.4(DYSF):c.3675G>T (p.Val1225=)

rs1553375366 
NM_003494.4(DYSF):c.3677T>G (p.Val1226Gly)

rs750397218 
NM_003494.4(DYSF):c.37032A>G

rs886043149 
NM_003494.4(DYSF):c.3709G>C (p.Asp1237His)

rs1553376431 
NM_003494.4(DYSF):c.3738A>G (p.Gln1246=)

rs762041312 
NM_003494.4(DYSF):c.375G>T (p.Pro125=)

rs377056951 
NM_003494.4(DYSF):c.3770G>A (p.Trp1257Ter)

rs1553376538 
NM_003494.4(DYSF):c.3801G>C (p.Ser1267=)

rs765136335 
NM_003494.4(DYSF):c.3803G>A (p.Gly1268Glu)

rs886043338 
NM_003494.4(DYSF):c.3805dup (p.Glu1269fs)


NM_003494.4(DYSF):c.3809T>C (p.Leu1270Pro)

rs886042828 
NM_003494.4(DYSF):c.3809T>G (p.Leu1270Arg)

rs886042828 
NM_003494.4(DYSF):c.3887C>G (p.Ser1296Ter)

rs1553377740 
NM_003494.4(DYSF):c.3903+9G>A

rs794727590 
NM_003494.4(DYSF):c.3904T>C (p.Ser1302Pro)

rs794727597 
NM_003494.4(DYSF):c.3961G>T (p.Val1321Phe)

rs767889531 
NM_003494.4(DYSF):c.4022T>C (p.Leu1341Pro)

rs757917335 
NM_003494.4(DYSF):c.4081T>C (p.Cys1361Arg)

rs776472879 
NM_003494.4(DYSF):c.4090C>T (p.Gln1364Ter)

rs886042095 
NM_003494.4(DYSF):c.4094C>T (p.Thr1365Met)

rs149182447 
NM_003494.4(DYSF):c.4134C>T (p.Pro1378=)

rs774464702 
NM_003494.4(DYSF):c.41688C>T

rs772066982 
NM_003494.4(DYSF):c.4207G>A (p.Val1403Ile)

rs767049254 
NM_003494.4(DYSF):c.4228C>T (p.Gln1410Ter)

rs769721856 
NM_003494.4(DYSF):c.4240C>T (p.Arg1414Trp)

rs774011358 
NM_003494.4(DYSF):c.4241G>T (p.Arg1414Leu)

rs761337469 
NM_003494.4(DYSF):c.4263dup (p.Ile1422fs)

rs1553383144 
NM_003494.4(DYSF):c.4268G>A (p.Arg1423His)

rs753156321 
NM_003494.4(DYSF):c.429G>A (p.Pro143=)

rs542176164 
NM_003494.4(DYSF):c.429G>T (p.Pro143=)

rs542176164 
NM_003494.4(DYSF):c.4304C>T (p.Ala1435Val)

rs754979997 
NM_003494.4(DYSF):c.4317C>T (p.Ser1439=)

rs886043896 
NM_003494.4(DYSF):c.4333+2T>A

rs759939755 
NM_003494.4(DYSF):c.438T>C (p.Pro146=)

rs1553520415 
NM_003494.4(DYSF):c.4459G>T (p.Glu1487Ter)

rs886042635 
NM_003494.4(DYSF):c.4474G>A (p.Gly1492Ser)

rs747398354 
NM_003494.4(DYSF):c.4497del (p.Phe1499fs)

rs886042578 
NM_003494.4(DYSF):c.457+2T>G

rs750356247 
NM_003494.4(DYSF):c.457+6T>G

rs756102619 
NM_003494.4(DYSF):c.4713C>T (p.Ala1571=)

rs375485030 
NM_003494.4(DYSF):c.4714G>A (p.Ala1572Thr)

rs143163327 
NM_003494.4(DYSF):c.4757G>A (p.Arg1586Gln)

rs538781815 
NM_003494.4(DYSF):c.4794+1G>T

rs777216777 
NM_003494.4(DYSF):c.4794G>A (p.Lys1598=)

rs141704244 
NM_003494.4(DYSF):c.4865C>T (p.Thr1622Met)

rs144383140 
NM_003494.4(DYSF):c.4880T>C (p.Phe1627Ser)

rs1553410562 
NM_003494.4(DYSF):c.48871G>A

rs886043170 
NM_003494.4(DYSF):c.4927C>T (p.Leu1643=)

rs747062865 
NM_003494.4(DYSF):c.4939C>G (p.Leu1647Val)

rs886042492 
NM_003494.4(DYSF):c.4943A>G (p.Tyr1648Cys)

rs1553412643 
NM_003494.4(DYSF):c.4978G>A (p.Gly1660Ser)

rs375068646 
NM_003494.4(DYSF):c.4C>T (p.Leu2=)

rs772536111 
NM_003494.4(DYSF):c.5018del (p.Lys1673fs)

rs1064797253 
NM_003494.4(DYSF):c.5027C>A (p.Ala1676Asp)

rs761625265 
NM_003494.4(DYSF):c.5030G>T (p.Arg1677Leu)

rs138472236 
NM_003494.4(DYSF):c.5033G>A (p.Cys1678Tyr)

rs753279446 
NM_003494.4(DYSF):c.5039_5057+4dup

rs786205082 
NM_003494.4(DYSF):c.5057+1G>A

rs886042581 
NM_003494.4(DYSF):c.5057+5G>T

rs745891180 
NM_003494.4(DYSF):c.5085G>T (p.Gln1695His)

rs749455148 
NM_003494.4(DYSF):c.509C>T (p.Ala170Val)

rs34999029 
NM_003494.4(DYSF):c.5105T>C (p.Leu1702Pro)

rs1553413187 
NM_003494.4(DYSF):c.5187C>A (p.Ser1729=)

rs748704263 
NM_003494.4(DYSF):c.5189T>C (p.Ile1730Thr)

rs886042493 
NM_003494.4(DYSF):c.5198T>C (p.Ile1733Thr)

rs866367366 
NM_003494.4(DYSF):c.5244G>A (p.Glu1748=)

rs140812535 
NM_003494.4(DYSF):c.5272C>G (p.Gln1758Glu)

rs370866476 
NM_003494.4(DYSF):c.5333T>G (p.Ile1778Ser)

rs753632964 
NM_003494.4(DYSF):c.5334C>T (p.Ile1778=)

rs727503913 
NM_003494.4(DYSF):c.53411G>A

rs886042879 
NM_003494.4(DYSF):c.5342G>A (p.Gly1781Glu)

rs886042341 
NM_003494.4(DYSF):c.535G>A (p.Gly179Ser)

rs886044549 
NM_003494.4(DYSF):c.5366T>C (p.Leu1789Pro)

rs727503914 
NM_003494.4(DYSF):c.5414dup (p.Arg1806fs)

rs1553415211 
NM_003494.4(DYSF):c.5468T>A (p.Val1823Glu)

rs886043339 
NM_003494.4(DYSF):c.5477A>G (p.Asp1826Gly)

rs773950181 
NM_003494.4(DYSF):c.5503A>G (p.Met1835Val)

rs1553415622 
NM_003494.4(DYSF):c.5518G>A (p.Val1840Met)

rs886042880 
NM_003494.4(DYSF):c.5525+3dup

rs1341734203 
NM_003494.4(DYSF):c.55267T>G

rs1553416025 
NM_003494.4(DYSF):c.5570A>T (p.His1857Leu)

rs199601326 
NM_003494.4(DYSF):c.5587G>A (p.Gly1863Ser)

rs886044266 
NM_003494.4(DYSF):c.5646del (p.Val1883fs)

rs1553416197 
NM_003494.4(DYSF):c.5714G>A (p.Arg1905Gln)

rs886043057 
NM_003494.4(DYSF):c.5757T>C (p.Asp1919=)

rs750860886 
NM_003494.4(DYSF):c.5767+1G>A


NM_003494.4(DYSF):c.5817C>A (p.Ala1939=)

rs886043955 
NM_003494.4(DYSF):c.5821A>T (p.Lys1941Ter)

rs1553420738 
NM_003494.4(DYSF):c.5902T>C (p.Trp1968Arg)

rs886043194 
NM_003494.4(DYSF):c.5911T>C (p.Cys1971Arg)

rs1553420858 
NM_003494.4(DYSF):c.59471G>C

rs886042636 
NM_003494.4(DYSF):c.5948G>A (p.Gly1983Asp)

rs886043391 
NM_003494.4(DYSF):c.5963C>T (p.Thr1988Ile)

rs886043782 
NM_003494.4(DYSF):c.5998C>T (p.Arg2000Trp)

rs149357145 
NM_003494.4(DYSF):c.6022G>T (p.Glu2008Ter)

rs886043489 
NM_003494.4(DYSF):c.6038C>G (p.Pro2013Arg)

rs886044643 
NM_003494.4(DYSF):c.6044T>C (p.Leu2015Pro)

rs978055393 
NM_003494.4(DYSF):c.6049del (p.Asp2017fs)


NM_003494.4(DYSF):c.6056G>A (p.Arg2019Lys)

rs886042452 
NM_003494.4(DYSF):c.6056G>T (p.Arg2019Met)

rs886042452 
NM_003494.4(DYSF):c.6093A>G (p.Pro2031=)


NM_003494.4(DYSF):c.6122G>T (p.Arg2041Leu)

rs760119297 
NM_003494.4(DYSF):c.6132G>T (p.Arg2044=)

rs886042758 
NM_003494.4(DYSF):c.6157C>G (p.Leu2053Val)

rs1177991658 
NM_003494.4(DYSF):c.617C>T (p.Ala206Val)

rs749901429 
NM_003494.4(DYSF):c.6197C>T (p.Ala2066Val)

rs886043805 
NM_003494.4(DYSF):c.6212del (p.Ala2071fs)

rs886042991 
NM_003494.4(DYSF):c.6216del (p.Ala2072_Met2073insTer)

rs886043884 
NM_003494.4(DYSF):c.624A>G (p.Thr208=)

rs886043320 
NM_003494.4(DYSF):c.626C>T (p.Ser209Phe)

rs754343148 
NM_003494.4(DYSF):c.631A>G (p.Lys211Glu)

rs786205525 
NM_003494.4(DYSF):c.661C>T (p.Gln221Ter)

rs886044381 
NM_003494.4(DYSF):c.663G>C (p.Gln221His)

rs886044472 
NM_003494.4(DYSF):c.6648G>C

rs748159785 
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)

rs1553495983 
NM_003494.4(DYSF):c.751C>A (p.Arg251=)

rs769180834 
NM_003494.4(DYSF):c.751C>T (p.Arg251Trp)

rs769180834 
NM_003494.4(DYSF):c.757C>T (p.Arg253Trp)

rs149827237 
NM_003494.4(DYSF):c.75C>T (p.Ser25=)

rs375772222 
NM_003494.4(DYSF):c.774C>G (p.Asn258Lys)

rs766315212 
NM_003494.4(DYSF):c.792+2T>A

rs886042970 
NM_003494.4(DYSF):c.7932A>G

rs934428561 
NM_003494.4(DYSF):c.842C>T (p.Pro281Leu)

rs886043967 
NM_003494.4(DYSF):c.855+2T>G

rs886042590 
NM_003494.4(DYSF):c.88+12437C>T


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


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


NM_003494.4(DYSF):c.891G>A

rs786205524 
NM_003494.4(DYSF):c.899del (p.Glu300fs)

rs886044386 
NM_003494.4(DYSF):c.8G>A (p.Arg3Lys)

rs886043856 
NM_003494.4(DYSF):c.910_911delinsAT (p.Asp304Ile)

rs886043469 
NM_003494.4(DYSF):c.937+2T>C

rs886042617 
NM_003494.4(DYSF):c.937+4A>T

rs1397221551 
NM_003494.4(DYSF):c.943G>A (p.Ala315Thr)

rs745746091 
NM_003494.4(DYSF):c.945C>A (p.Ala315=)

rs1553525671 
NM_003494.4(DYSF):c.967C>T (p.Leu323Phe)

rs886044387 
NM_003494.4(DYSF):c.984C>T (p.Asp328=)

rs886044211 
NM_003494.4(DYSF):c.997_998del (p.Ala333fs)

rs1553525756 
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

