GRCh37/hg19 2p13.2(chr2:7175542871755531)x0


NC_000002.12:g.(?_71480873)_(71481980_?)del


NC_000002.12:g.(?_71511797)_(71539257_?)dup


NC_000002.12:g.(?_71520168)_(71549401_?)dup


NC_000002.12:g.(?_71549340)_(71549401_?)del


NC_000002.12:g.(?_71553001)_(71574381_?)dup


NC_000002.12:g.(?_71567941)_(71570344_?)del


NC_000002.12:g.(?_71679047)_(71679245_?)del


NC_000002.12:g.71453502T>C

rs6546693 
NC_000002.12:g.71611370del

rs113849164 
NM_001130987.1(DYSF):c.1696dup (p.Glu566Glyfs)

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

rs756118312 
NM_001130987.2(DYSF):c.*107T>A

rs11903223 
NM_001130987.2(DYSF):c.*107T>G

rs11903223 
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.*9C>G


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

rs6752632 
NM_001130987.2(DYSF):c.30G>A

rs61333801 
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)

rs1573671276 
NM_001130987.2(DYSF):c.1002+216C>T

rs13402171 
NM_001130987.2(DYSF):c.1002+3A>G


NM_001130987.2(DYSF):c.1002+4A>G


NM_001130987.2(DYSF):c.10032A>G

rs1559065297 
NM_001130987.2(DYSF):c.10033C>A


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

rs11675897 
NM_001130987.2(DYSF):c.1006_1007delinsAT (p.Asp336Ile)

rs886043469 
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)

rs146687581 
NM_001130987.2(DYSF):c.1011G>A (p.Val337=)

rs1573697664 
NM_001130987.2(DYSF):c.1033+1G>A

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

rs12997658 
NM_001130987.2(DYSF):c.1033+2T>C

rs886042617 
NM_001130987.2(DYSF):c.1033+43del

rs149875093 
NM_001130987.2(DYSF):c.1033+4A>T

rs1397221551 
NM_001130987.2(DYSF):c.1033+94G>T

rs11687223 
NM_001130987.2(DYSF):c.1034196C>G

rs12713754 
NM_001130987.2(DYSF):c.103420G>A

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

rs114703564 
NM_001130987.2(DYSF):c.103464C>T

rs55695728 
NM_001130987.2(DYSF):c.103468T>C

rs12713755 
NM_001130987.2(DYSF):c.1038C>T (p.His346=)

rs36122356 
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)

rs745746091 
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=)

rs1553525671 
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)

rs778686949 
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)

rs768546511 
NM_001130987.2(DYSF):c.1063C>T (p.Leu355Phe)

rs886044387 
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=)

rs886044211 
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs)

rs1553525756 
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.1116C>G (p.Ser372Arg)

rs766891289 
NM_001130987.2(DYSF):c.1117del (p.Leu373fs)


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=)

rs373744398 
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+1G>C

rs398123763 
NM_001130987.2(DYSF):c.1149+3G>C

rs1573704236 
NM_001130987.2(DYSF):c.1149+4A>G

rs761302882 
NM_001130987.2(DYSF):c.1149+54C>T

rs56343439 
NM_001130987.2(DYSF):c.1149+5G>A

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

rs771741504 
NM_001130987.2(DYSF):c.1149+9A>G

rs1573704374 
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

rs199955501 
NM_001130987.2(DYSF):c.115043_1155delinsA

rs1573743003 
NM_001130987.2(DYSF):c.1160A>G (p.Lys387Arg)

rs886043914 
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=)

rs886042490 
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=)

rs886042490 
NM_001130987.2(DYSF):c.1167del (p.Ser390fs)

rs886044355 
NM_001130987.2(DYSF):c.1192del (p.Ser398fs)


NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys)


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

rs781380886 
NM_001130987.2(DYSF):c.1213_1250del (p.Gly405fs)


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.1227A>G (p.Arg409=)

rs915460671 
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)

rs746610724 
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.1256G>C (p.Arg419Pro)

rs776036392 
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)

rs779969348 
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)

rs1559079887 
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)


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

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

rs886042389 
NM_001130987.2(DYSF):c.1267_1276+4dup

rs1573744795 
NM_001130987.2(DYSF):c.126C>T (p.Ser42=)

rs369755508 
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

rs768425085 
NM_001130987.2(DYSF):c.1276+10G>A

rs994622254 
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

rs116505531 
NM_001130987.2(DYSF):c.1276+5G>A

rs766433603 
NM_001130987.2(DYSF):c.1276+5G>C

rs766433603 
NM_001130987.2(DYSF):c.1276+9G>C

rs897697260 
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.1280A>C (p.Asp427Ala)

rs1553531687 
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)

rs147244033 
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val)


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.1299C>T (p.Asn433=)

rs757047049 
NM_001130987.2(DYSF):c.1307A>G (p.Gln436Arg)


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

rs148697028 
NM_001130987.2(DYSF):c.1314T>C (p.Phe438=)

rs762255707 
NM_001130987.2(DYSF):c.1317C>A (p.Gly439=)

rs1267921215 
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=)

rs779669549 
NM_001130987.2(DYSF):c.1321G>A (p.Glu441Lys)

rs886043461 
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.1332G>T (p.Lys444Asn)

rs886043169 
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.1346A>G (p.Asp449Gly)

rs1553531854 
NM_001130987.2(DYSF):c.134C>T (p.Pro45Leu)


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

rs766936914 
NM_001130987.2(DYSF):c.135T>C (p.Pro45=)

rs886043852 
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)

rs371593605 
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.1371G>C (p.Ala457=)

rs140667960 
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)

rs886042093 
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)


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

rs72900820 
NM_001130987.2(DYSF):c.1380+2T>C

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

rs141275858 
NM_001130987.2(DYSF):c.1380+6G>C

rs75796187 
NM_001130987.2(DYSF):c.1380+9C>T

rs1573760922 
NM_001130987.2(DYSF):c.13812A>G

rs786200897 
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile)

rs1553535807 
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg)


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

rs376358025 
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.1432A>G (p.Ile478Val)

rs1573808717 
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+3G>A

rs764771218 
NM_001130987.2(DYSF):c.1449+7C>G

rs199608017 
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.14503_14502del

rs886043328 
NM_001130987.2(DYSF):c.14506C>T

rs757776087 
NM_001130987.2(DYSF):c.145088A>G

rs4852802 
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu)

rs1573810761 
NM_001130987.2(DYSF):c.1458C>T (p.Ser486=)

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

rs750819109 
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.147+1G>A


NM_001130987.2(DYSF):c.1471dup (p.Met491fs)

rs1236367931 
NM_001130987.2(DYSF):c.1481G>A


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

rs12998057 
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)

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

rs398123767 
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)

rs1573811118 
NM_001130987.2(DYSF):c.1493+13T>C

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

rs1553536007 
NM_001130987.2(DYSF):c.1493+2dup

rs753885022 
NM_001130987.2(DYSF):c.1493+5G>A

rs553207755 
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter)

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

rs79617374 
NM_001130987.2(DYSF):c.14941G>A

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

rs398123769 
NM_001130987.2(DYSF):c.14944C>T

rs377488411 
NM_001130987.2(DYSF):c.149476G>A

rs140952123 
NM_001130987.2(DYSF):c.1496A>G (p.Asp499Gly)

rs886044185 
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.1530del (p.Tyr511fs)

rs786205632 
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs)


NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)

rs139258703 
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu)


NM_001130987.2(DYSF):c.1545G>A (p.Ser515=)

rs755103680 
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)

rs765472161 
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)

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

rs1559109621 
NM_001130987.2(DYSF):c.1565G>A (p.Gly522Glu)


NM_001130987.2(DYSF):c.1567G>T (p.Glu523Ter)


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

rs7609409 
NM_001130987.2(DYSF):c.1576+18T>C

rs768373625 
NM_001130987.2(DYSF):c.1576+1G>A

rs886044258 
NM_001130987.2(DYSF):c.1576+1del

rs1553537332 
NM_001130987.2(DYSF):c.1576+253T>A

rs78115186 
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu)

rs886044537 
NM_001130987.2(DYSF):c.1577103G>A

rs2303592 
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.15771655C>G

rs886044410 
NM_001130987.2(DYSF):c.15771663G>A

rs760021808 
NM_001130987.2(DYSF):c.15771664C>T

rs144931729 
NM_001130987.2(DYSF):c.15771679G>T

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

rs368577086 
NM_001130987.2(DYSF):c.15771686C>T

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

rs398123770 
NM_001130987.2(DYSF):c.15771698G>A

rs754787004 
NM_001130987.2(DYSF):c.15771699C>T

rs183489578 
NM_001130987.2(DYSF):c.15771701T>C

rs201701337 
NM_001130987.2(DYSF):c.15771825A>G

rs934061 
NM_001130987.2(DYSF):c.15771826C>T

rs736096 
NM_001130987.2(DYSF):c.15771852G>A

rs78933613 
NM_001130987.2(DYSF):c.15771G>A

rs189923208 
NM_001130987.2(DYSF):c.15772A>G

rs1553542142 
NM_001130987.2(DYSF):c.15777C>T

rs767566865 
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)

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

rs1573928936 
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.1615T>C (p.Cys539Arg)

rs1573929182 
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.1639C>T (p.Pro547Ser)


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

rs780677692 
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)


NM_001130987.2(DYSF):c.1668C>A (p.Pro556=)

rs180970066 
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)

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

rs863225020 
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)

rs374809515 
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

rs76509802 
NM_001130987.2(DYSF):c.1692+2T>A

rs398123771 
NM_001130987.2(DYSF):c.1692+7C>T

rs775395972 
NM_001130987.2(DYSF):c.169362C>T

rs2303593 
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)

rs755829878 
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.1762C>T (p.Gln588Ter)

rs886042633 
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs)

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

rs376932915 
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)

rs773168782 
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)

rs149386446 
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln)


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

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

rs7582130 
NM_001130987.2(DYSF):c.1806+265C>T

rs11690146 
NM_001130987.2(DYSF):c.1806+29G>A

rs192462247 
NM_001130987.2(DYSF):c.1806+2T>G


NM_001130987.2(DYSF):c.180710C>T

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

rs756387775 
NM_001130987.2(DYSF):c.180724C>G

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

rs7599496 
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

rs1553543506 
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys)

rs745472489 
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His)

rs371210248 
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.1844C>G (p.Ala615Gly)


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

rs767805308 
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.1881_1882inv (p.Ala628Thr)


NM_001130987.2(DYSF):c.1882G>A (p.Ala628Thr)

rs886043941 
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

rs746873768 
NM_001130987.2(DYSF):c.1896G>A (p.Glu632=)

rs1360936643 
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)

rs567956595 
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.1919A>C (p.Asn640Thr)

rs886043196 
NM_001130987.2(DYSF):c.1922del (p.Lys641fs)

rs1573943246 
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)

rs550180529 
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.1932G>A (p.Met644Ile)


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.1965C>A (p.Tyr655Ter)


NM_001130987.2(DYSF):c.1968C>A (p.Ser656Arg)


NM_001130987.2(DYSF):c.1976_1984+3dup

rs1573943846 
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=)


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

rs2303597 
NM_001130987.2(DYSF):c.198515G>A


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

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

rs138910206 
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.1985G>A (p.Gly662Glu)

rs886042863 
NM_001130987.2(DYSF):c.2005C>T (p.Pro669Ser)


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

rs1553544209 
NM_001130987.2(DYSF):c.2010G>A (p.Trp670Ter)

rs794727343 
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)

rs114986640 
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

rs114986640 
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)


NM_001130987.2(DYSF):c.2070C>T (p.Ile690=)

rs746480529 
NM_001130987.2(DYSF):c.2070del (p.Ile690fs)

rs1573949142 
NM_001130987.2(DYSF):c.2088del (p.Ile699fs)

rs886044390 
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)

rs770228554 
NM_001130987.2(DYSF):c.2096T>C (p.Ile699Thr)

rs886043230 
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

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

rs998827835 
NM_001130987.2(DYSF):c.2103C>G (p.Asp701Glu)

rs886044378 
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)

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

rs749488054 
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)

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

rs745993 
NM_001130987.2(DYSF):c.211043G>T

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

rs1262272147 
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)


NM_001130987.2(DYSF):c.2133C>T (p.His711=)

rs1243434554 
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.2156C>T (p.Ser719Phe)


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

rs775539496 
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=)

rs762651388 
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.2174C>G (p.Ser725Trp)

rs376571932 
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=)

rs373820597 
NM_001130987.2(DYSF):c.2200_2205delinsGCTCA (p.Leu734fs)


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

rs754177085 
NM_001130987.2(DYSF):c.2215A>G (p.Ser739Gly)


NM_001130987.2(DYSF):c.2216+10A>T

rs1573963862 
NM_001130987.2(DYSF):c.2216+16C>T

rs111389127 
NM_001130987.2(DYSF):c.2216+6G>C

rs747059895 
NM_001130987.2(DYSF):c.2216+9dup

rs760948624 
NM_001130987.2(DYSF):c.2216G>C (p.Ser739Thr)

rs143304754 
NM_001130987.2(DYSF):c.221711G>A

rs200853014 
NM_001130987.2(DYSF):c.22171G>T

rs886044379 
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)

rs369209261 
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.2263G>T (p.Asp755Tyr)


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

rs181551438 
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His)


NM_001130987.2(DYSF):c.2302C>T (p.Gln768Ter)

rs1027145211 
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.2341A>G (p.Ser781Gly)


NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)

rs886043901 
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.2387G>A (p.Arg796His)

rs185891286 
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+5G>T


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

rs980565746 
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys)


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

rs12713753 
NM_001130987.2(DYSF):c.2405C>T

rs1559021086 
NM_001130987.2(DYSF):c.2406T>A

rs896011451 
NM_001130987.2(DYSF):c.2407C>T

rs746083673 
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)


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

rs147139414 
NM_001130987.2(DYSF):c.2406_2409+1del

rs398123774 
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

rs72827550 
NM_001130987.2(DYSF):c.2411C>A (p.Pro804His)

rs768226528 
NM_001130987.2(DYSF):c.2420G>C (p.Ser807Thr)

rs886043898 
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)

rs121908956 
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs)

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

rs139422989 
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)

rs773468156 
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)


NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter)


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.246G>A (p.Leu82=)

rs756463088 
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)

rs1574016452 
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)

rs35297901 
NM_001130987.2(DYSF):c.247G>A (p.Gly83Arg)


NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr)


NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser)

rs146819460 
NM_001130987.2(DYSF):c.2484C>T (p.Pro828=)

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

rs562925562 
NM_001130987.2(DYSF):c.2485G>T (p.Ala829Ser)

rs562925562 
NM_001130987.2(DYSF):c.2487C>T (p.Ala829=)

rs1199331931 
NM_001130987.2(DYSF):c.249G>C (p.Gly83=)

rs550993602 
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)

rs749002214 
NM_001130987.2(DYSF):c.2509C>A (p.Arg837=)

rs371841411 
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)

rs371841411 
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)

rs748636047 
NM_001130987.2(DYSF):c.2514T>G (p.Gly838=)

rs772432464 
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.254C>T (p.Ala85Val)

rs772008300 
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)

rs755849745 
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)

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

rs17007067 
NM_001130987.2(DYSF):c.256610T>C

rs1312909300 
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)


NM_001130987.2(DYSF):c.2569C>T (p.Pro857Ser)


NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu)

rs759412160 
NM_001130987.2(DYSF):c.2571G>A (p.Pro857=)

rs200494473 
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)

rs551942312 
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.2611C>T (p.Arg871Trp)

rs749542779 
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro)

rs779790516 
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly)

rs1574041904 
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)

rs191337920 
NM_001130987.2(DYSF):c.2631G>A (p.Gly877=)

rs1465061221 
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.2643T>G (p.Asp881Glu)


NM_001130987.2(DYSF):c.2648dup (p.Glu884fs)


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

rs1221035313 
NM_001130987.2(DYSF):c.2653T>A (p.Phe885Ile)


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.2680T>A (p.Ser894Thr)


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

rs794727636 
NM_001130987.2(DYSF):c.2692G>A (p.Glu898Lys)

rs886043846 
NM_001130987.2(DYSF):c.2697+1G>C


NM_001130987.2(DYSF):c.2697+5G>C


NM_001130987.2(DYSF):c.2697C>T (p.Thr899=)


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

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

rs370745710 
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.2707G>T (p.Glu903Ter)


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

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

rs769739410 
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=)

rs775337850 
NM_001130987.2(DYSF):c.2757C>T (p.Tyr919=)

rs200439327 
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs)

rs1559177278 
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile)


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

rs1553553762 
NM_001130987.2(DYSF):c.2780G>T (p.Gly927Val)

rs1553553778 
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)

rs886056281 
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)

rs138870937 
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.280_300dup (p.Ala94_Ala100dup)


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)

rs747089235 
NM_001130987.2(DYSF):c.2826G>A (p.Trp942Ter)

rs1553553888 
NM_001130987.2(DYSF):c.2833G>A (p.Ala945Thr)

rs886043185 
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)

rs727503910 
NM_001130987.2(DYSF):c.2844G>T (p.Trp948Cys)

rs727503910 
NM_001130987.2(DYSF):c.2847C>T (p.Phe949=)

rs146006518 
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)

rs774307376 
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

rs111459768 
NM_001130987.2(DYSF):c.2864+2T>A

rs1553553943 
NM_001130987.2(DYSF):c.2864+5G>A

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

rs62143855 
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.28657_28655del

rs761299898 
NM_001130987.2(DYSF):c.286585C>G

rs10205023 
NM_001130987.2(DYSF):c.2866C>G (p.Leu956Val)

rs777421461 
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)

rs535367520 
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala)

rs764369624 
NM_001130987.2(DYSF):c.2892C>T (p.His964=)

rs886044637 
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.2912dup (p.Phe972fs)


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.2926A>G (p.Thr976Ala)

rs886044026 
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

rs202218890 
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)

rs192717273 
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg)

rs151064013 
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)

rs886042637 
NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter)

rs1268594965 
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

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

rs893875655 
NM_001130987.2(DYSF):c.2973C>T (p.Thr991=)

rs373937234 
NM_001130987.2(DYSF):c.2979+112A>C

rs10183967 
NM_001130987.2(DYSF):c.297C>T (p.Ser99=)

rs763710844 
NM_001130987.2(DYSF):c.298014G>A


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

rs148732505 
NM_001130987.2(DYSF):c.29801G>C


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

rs142404822 
NM_001130987.2(DYSF):c.2983G>A (p.Gly995Arg)

rs778427145 
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)


NM_001130987.2(DYSF):c.298_300del (p.Ala100del)

rs1316197789 
NM_001130987.2(DYSF):c.2994del (p.Leu999fs)


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.3011T>C (p.Ile1004Thr)


NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)


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)

rs755791637 
NM_001130987.2(DYSF):c.3049T>C (p.Trp1017Arg)

rs886044098 
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

rs28937581 
NM_001130987.2(DYSF):c.3052T>C (p.Ser1018Pro)

rs886042550 
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.306del (p.Phe102fs)


NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)


NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn)

rs200943384 
NM_001130987.2(DYSF):c.3080A>T (p.Glu1027Val)

rs886044474 
NM_001130987.2(DYSF):c.3085+1G>T

rs1553555585 
NM_001130987.2(DYSF):c.3085+2T>C

rs886042951 
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)

rs770593405 
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.3113del (p.Pro1038fs)

rs753711667 
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)

rs762486621 
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)

rs34211915 
NM_001130987.2(DYSF):c.311C>T (p.Ala104Val)

rs767981823 
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)

rs372880553 
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=)

rs377235191 
NM_001130987.2(DYSF):c.3126G>C (p.Pro1042=)

rs377235191 
NM_001130987.2(DYSF):c.312C>G (p.Ala104=)

rs750834799 
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)


NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)

rs1358370392 
NM_001130987.2(DYSF):c.3141T>G (p.Pro1047=)

rs780246050 
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu)


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

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

rs770883682 
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)

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

rs776491058 
NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del)

rs1559185944 
NM_001130987.2(DYSF):c.3165C>T (p.His1055=)

rs745672090 
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)

rs369607332 
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

rs369607332 
NM_001130987.2(DYSF):c.3168A>G (p.Arg1056=)

rs763654971 
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.3172C>T (p.Arg1058Trp)

rs1553556116 
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)

rs372226487 
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)

rs144598063 
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)

rs754763074 
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)

rs539727858 
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)

rs779159879 
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.3201_3202TC[1] (p.Leu1068fs)


NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val)

rs781120136 
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val)


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

rs896149148 
NM_001130987.2(DYSF):c.3228+1G>A


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

rs1183404242 
NM_001130987.2(DYSF):c.3228+7C>T

rs534331009 
NM_001130987.2(DYSF):c.3228+8A>C

rs749135257 
NM_001130987.2(DYSF):c.3228+8_3228+33del

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

rs12328124 
NM_001130987.2(DYSF):c.322931G>A

rs72902605 
NM_001130987.2(DYSF):c.32295T>C

rs794727532 
NM_001130987.2(DYSF):c.322961G>C

rs57041989 
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)


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.3268G>A (p.Ala1090Thr)


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

rs1574097294 
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter)

rs794727534 
NM_001130987.2(DYSF):c.3285G>C (p.Trp1095Cys)

rs886043890 
NM_001130987.2(DYSF):c.3297C>A (p.Leu1099=)

rs144936357 
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.3304C>T (p.Arg1102Cys)

rs764208388 
NM_001130987.2(DYSF):c.330G>A (p.Lys110=)

rs1573565747 
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile)

rs1553361773 
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup)

rs1553361783 
NM_001130987.2(DYSF):c.3315T>G (p.Asp1105Glu)

rs886043916 
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly)


NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)

rs945602962 
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.3326G>A (p.Arg1109His)

rs752424049 
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)

rs758284713 
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>G (p.Arg1113Gly)


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.3354A>G (p.Pro1118=)

rs1235233076 
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)

rs1558513494 
NM_001130987.2(DYSF):c.3366G>C (p.Thr1122=)

rs149986783 
NM_001130987.2(DYSF):c.3375A>G (p.Ala1125=)

rs1574098655 
NM_001130987.2(DYSF):c.3379_3380GT[1] (p.Phe1128fs)

rs398123780 
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)


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

rs200334333 
NM_001130987.2(DYSF):c.3402+11C>G


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

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

rs72827583 
NM_001130987.2(DYSF):c.3403121G>C

rs3811611 
NM_001130987.2(DYSF):c.34032A>G

rs370874727 
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=)

rs146498307 
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.3446C>T (p.Ser1149Phe)

rs959125009 
NM_001130987.2(DYSF):c.3449C>T (p.Thr1150Ile)


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

rs780906230 
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser)

rs886044487 
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)

rs748951363 
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met)

rs140058659 
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)

rs576460368 
NM_001130987.2(DYSF):c.3483del (p.Cys1162fs)

rs886042632 
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn)

rs761528558 
NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His)

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

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

rs1473228 
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.3499G>A (p.Gly1167Arg)

rs751942463 
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)

rs138317526 
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)

rs138317526 
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)

rs200719174 
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His)

rs780134612 
NM_001130987.2(DYSF):c.3508T>C (p.Tyr1170His)


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

rs199677396 
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs)


NM_001130987.2(DYSF):c.3520T>C (p.Cys1174Arg)

rs886044028 
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)

rs770648429 
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.3571dup (p.Ser1191fs)

rs766341386 
NM_001130987.2(DYSF):c.3574+26C>G

rs115981643 
NM_001130987.2(DYSF):c.3574+5G>A

rs886043276 
NM_001130987.2(DYSF):c.357511G>A


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

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

rs13421969 
NM_001130987.2(DYSF):c.35751G>A


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

rs6737427 
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)

rs79899601 
NM_001130987.2(DYSF):c.3589G>T (p.Val1197Phe)

rs754075406 
NM_001130987.2(DYSF):c.358C>T (p.Leu120=)

rs892412351 
NM_001130987.2(DYSF):c.3618G>A (p.Thr1206=)

rs913686558 
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.3663C>T (p.Leu1221=)

rs748966868 
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)

rs773703042 
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.3703G>T (p.Val1235Phe)


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

rs748683903 
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu)

rs368556029 
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)

rs1385670493 
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr)

rs1553375353 
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=)

rs1553375366 
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly)

rs750397218 
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)

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

rs375160101 
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)

rs375160101 
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)

rs747606668 
NM_001130987.2(DYSF):c.3756+133T>C

rs2303600 
NM_001130987.2(DYSF):c.3756+134A>T

rs2303601 
NM_001130987.2(DYSF):c.3756+202T>C

rs934062 
NM_001130987.2(DYSF):c.3756+227C>T

rs2303602 
NM_001130987.2(DYSF):c.3756+9G>T

rs191746041 
NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter)


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

rs141720146 
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)

rs1574264671 
NM_001130987.2(DYSF):c.375712C>T

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

rs13028056 
NM_001130987.2(DYSF):c.37572A>G

rs886043149 
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)

rs758107024 
NM_001130987.2(DYSF):c.3763G>C (p.Asp1255His)

rs1553376431 
NM_001130987.2(DYSF):c.3768G>A (p.Glu1256=)

rs1574276347 
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.378G>T (p.Pro126=)

rs377056951 
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=)

rs762041312 
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)

rs753817458 
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)

rs146970014 
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter)

rs1553376538 
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)

rs1553376558 
NM_001130987.2(DYSF):c.3829C>T (p.Pro1277Ser)


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

rs202013788 
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)

rs1574277160 
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)

rs774779883 
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.3855G>A (p.Ser1285=)

rs765136335 
NM_001130987.2(DYSF):c.3855G>C (p.Ser1285=)

rs765136335 
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg)


NM_001130987.2(DYSF):c.3857G>A (p.Gly1286Glu)

rs886043338 
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

rs763674597 
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)

rs779407815 
NM_001130987.2(DYSF):c.3863T>C (p.Leu1288Pro)

rs886042828 
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg)

rs886042828 
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.388G>A (p.Ala130Thr)


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

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

rs2303604 
NM_001130987.2(DYSF):c.38984C>G

rs555206040 
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu)


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.3916C>G (p.Pro1306Ala)


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

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

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

rs1529408 
NM_001130987.2(DYSF):c.3935A>G (p.Glu1312Gly)


NM_001130987.2(DYSF):c.3941C>G (p.Ser1314Ter)

rs1553377740 
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)


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

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

rs1553377764 
NM_001130987.2(DYSF):c.3957+2T>G


NM_001130987.2(DYSF):c.3957+9G>A

rs794727590 
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=)


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

rs67190543 
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro)

rs794727597 
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)

rs775881095 
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.3983C>T (p.Pro1328Leu)


NM_001130987.2(DYSF):c.3986C>A (p.Pro1329Gln)


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

rs1558613592 
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe)

rs767889531 
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=)

rs751571463 
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

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

rs760074198 
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)

rs61742872 
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)

rs758993965 
NM_001130987.2(DYSF):c.4059+7C>T

rs562567295 
NM_001130987.2(DYSF):c.4059+8G>A

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

rs773542731 
NM_001130987.2(DYSF):c.405G>A (p.Pro135=)


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

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

rs753614306 
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)

rs2303606 
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)

rs757917335 
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.408C>T (p.Pro136=)

rs1182440042 
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.4114del (p.Ser1372fs)


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.4135T>C (p.Cys1379Arg)

rs776472879 
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.4144C>T (p.Gln1382Ter)

rs886042095 
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)

rs149182447 
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)

rs566381009 
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)

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

rs1574340403 
NM_001130987.2(DYSF):c.4170G>A (p.Arg1390=)

rs746181078 
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp)

rs368601323 
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)

rs1574340607 
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)

rs774464702 
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys)

rs536906283 
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser)


NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=)

rs555086420 
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)

rs866823474 
NM_001130987.2(DYSF):c.4221+10A>G

rs1448201474 
NM_001130987.2(DYSF):c.4221+119A>G

rs1814333 
NM_001130987.2(DYSF):c.4221+1G>C

rs1474151297 
NM_001130987.2(DYSF):c.4221+5del

rs1574341049 
NM_001130987.2(DYSF):c.4221+96C>T

rs2016605 
NM_001130987.2(DYSF):c.422220G>A

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

rs745775405 
NM_001130987.2(DYSF):c.42228C>T

rs772066982 
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.4244A>T (p.Tyr1415Phe)


NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)


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

rs376134165 
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>A (p.Pro1418His)


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

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

rs142769942 
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=)

rs547886773 
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)

rs767049254 
NM_001130987.2(DYSF):c.4272C>T (p.Ile1424=)

rs1465648654 
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys)

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

rs758688467 
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)

rs769721856 
NM_001130987.2(DYSF):c.4290_4292CCG[1] (p.Arg1432del)

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

rs749028996 
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)

rs768354800 
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)

rs774011358 
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln)

rs761337469 
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu)

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.4317dup (p.Ile1440fs)

rs1553383144 
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)

rs139654844 
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)


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

rs377706756 
NM_001130987.2(DYSF):c.4322G>A (p.Arg1441His)

rs753156321 
NM_001130987.2(DYSF):c.4323C>A (p.Arg1441=)

rs758538165 
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=)

rs758538165 
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys)

rs1454165770 
NM_001130987.2(DYSF):c.432G>A (p.Pro144=)

rs542176164 
NM_001130987.2(DYSF):c.432G>T (p.Pro144=)

rs542176164 
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)

rs144072850 
NM_001130987.2(DYSF):c.4350C>G (p.Pro1450=)

rs897596810 
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=)

rs368451006 
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val)

rs754979997 
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)


NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=)

rs886043896 
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser)


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+2T>A

rs759939755 
NM_001130987.2(DYSF):c.4387+2T>C


NM_001130987.2(DYSF):c.4387+3_4387+28del

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

rs58806374 
NM_001130987.2(DYSF):c.43888C>T

rs746630105 
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)

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

rs1574354166 
NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=)

rs374705038 
NM_001130987.2(DYSF):c.441T>C (p.Pro147=)

rs1553520415 
NM_001130987.2(DYSF):c.4421T>C (p.Val1474Ala)

rs1574354256 
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)

rs367709130 
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=)

rs371231895 
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)

rs145690047 
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)

rs767788624 
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)

rs61738567 
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)


NM_001130987.2(DYSF):c.443A>G (p.Asp148Gly)

rs113919086 
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)

rs1574354515 
NM_001130987.2(DYSF):c.4445A>G (p.Glu1482Gly)


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

rs375465887 
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=)

rs1476328093 
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)


NM_001130987.2(DYSF):c.445C>T (p.Leu149=)

rs1339045360 
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)

rs751456837 
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

rs772118450 
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.4478_4481dup (p.Ser1495fs)

rs1553389065 
NM_001130987.2(DYSF):c.4481C>T (p.Ser1494Leu)

rs370898927 
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs)

rs1553389118 
NM_001130987.2(DYSF):c.4503G>A (p.Thr1501=)

rs531996668 
NM_001130987.2(DYSF):c.4527+141C>G

rs75026991 
NM_001130987.2(DYSF):c.4527+192A>G

rs191512096 
NM_001130987.2(DYSF):c.4527+204C>A

rs12995778 
NM_001130987.2(DYSF):c.4528127C>T

rs72904631 
NM_001130987.2(DYSF):c.45282A>G

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

rs84181 
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys)

rs562261472 
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val)


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.4568C>A (p.Ser1523Tyr)

rs1572921644 
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val)


NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)

rs886042635 
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.4591G>A (p.Gly1531Ser)

rs747398354 
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

rs57229705 
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

rs59644933 
NM_001130987.2(DYSF):c.460+243G>A

rs58363669 
NM_001130987.2(DYSF):c.460+2T>G

rs750356247 
NM_001130987.2(DYSF):c.460+6T>G

rs756102619 
NM_001130987.2(DYSF):c.460+82C>T

rs79084610 
NM_001130987.2(DYSF):c.460+9C>A

rs1052225757 
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)

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

rs1553520795 
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs)

rs886042578 
NM_001130987.2(DYSF):c.4619C>A (p.Thr1540Asn)

rs200809348 
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)

rs7573406 
NM_001130987.2(DYSF):c.4626+10C>T

rs1420815050 
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

rs3749025 
NM_001130987.2(DYSF):c.4627305C>T

rs59664907 
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.4691del (p.Phe1564fs)

rs1572994572 
NM_001130987.2(DYSF):c.46_48AAG[1] (p.Lys17del)

rs1553501109 
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)

rs1463145288 
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=)

rs775026383 
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)

rs144422408 
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=)

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

rs751126464 
NM_001130987.2(DYSF):c.4755+10C>T

rs139099979 
NM_001130987.2(DYSF):c.4755+58A>G

rs75563048 
NM_001130987.2(DYSF):c.4755+6T>C


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

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

rs61404609 
NM_001130987.2(DYSF):c.47563C>T

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

rs1179051248 
NM_001130987.2(DYSF):c.4779C>T (p.Leu1593=)

rs1573009267 
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)

rs768130248 
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)

rs778065845 
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=)

rs774070544 
NM_001130987.2(DYSF):c.4808C>T (p.Pro1603Leu)


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=)

rs771742780 
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)

rs1573009747 
NM_001130987.2(DYSF):c.4825C>G (p.Leu1609Val)


NM_001130987.2(DYSF):c.4830C>T (p.Ala1610=)

rs375485030 
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)

rs143163327 
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.4874G>A (p.Arg1625Gln)

rs538781815 
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.4911+1G>T

rs777216777 
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)

rs141704244 
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.4961A>G (p.Gln1654Arg)


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

rs759505768 
NM_001130987.2(DYSF):c.4974C>A (p.Ile1658=)

rs113744167 
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)

rs144383140 
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)

rs142301132 
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=)

rs963646326 
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.4997T>C (p.Phe1666Ser)

rs1553410562 
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)

rs1573020369 
NM_001130987.2(DYSF):c.5003+1249G>T

rs886042110 
NM_001130987.2(DYSF):c.5003+1320A>G

rs3791825 
NM_001130987.2(DYSF):c.5003+1375C>G

rs3791826 
NM_001130987.2(DYSF):c.5003+1380G>A

rs76541882 
NM_001130987.2(DYSF):c.5003+1393G>A

rs72904647 
NM_001130987.2(DYSF):c.5003+8G>T

rs954327151 
NM_001130987.2(DYSF):c.5004162C>T

rs2303598 
NM_001130987.2(DYSF):c.50041G>A

rs886043170 
NM_001130987.2(DYSF):c.50042A>G


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.5044C>T (p.Leu1682=)

rs747062865 
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val)

rs886042492 
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)

rs141476432 
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)

rs1553412643 
NM_001130987.2(DYSF):c.5063A>G (p.Asp1688Gly)

rs1449452722 
NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val)

rs762970438 
NM_001130987.2(DYSF):c.5071_5073CTC[1] (p.Leu1692del)

rs1163037004 
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=)

rs375326769 
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)

rs368142107 
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)

rs149087116 
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)

rs375068646 
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.5110G>A (p.Asp1704Asn)


NM_001130987.2(DYSF):c.5135del (p.Lys1712fs)

rs1064797253 
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.5144C>A (p.Ala1715Asp)

rs761625265 
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.5147G>T (p.Arg1716Leu)

rs138472236 
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr)

rs753279446 
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

rs753279446 
NM_001130987.2(DYSF):c.5156_5174+4dup

rs786205082 
NM_001130987.2(DYSF):c.5174+1G>A

rs886042581 
NM_001130987.2(DYSF):c.5174+2T>C

rs1553412826 
NM_001130987.2(DYSF):c.5174+4C>G


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

rs745891180 
NM_001130987.2(DYSF):c.5174+5G>T

rs745891180 
NM_001130987.2(DYSF):c.5174+6_5174+7dup

rs1553412837 
NM_001130987.2(DYSF):c.5174+8G>A

rs1573054048 
NM_001130987.2(DYSF):c.51756C>T

rs1258841250 
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)

rs1573060017 
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)

rs146153532 
NM_001130987.2(DYSF):c.5184G>A (p.Pro1728=)

rs750640522 
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)

rs863225021 
NM_001130987.2(DYSF):c.5199C>A (p.Asp1733Glu)


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

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

rs1558771348 
NM_001130987.2(DYSF):c.5202G>T (p.Gln1734His)

rs749455148 
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)


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

rs776452710 
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)

rs149408006 
NM_001130987.2(DYSF):c.5222T>C (p.Leu1741Pro)

rs1553413187 
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)

rs1558771751 
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)


NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)

rs1573061003 
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=)

rs762447573 
NM_001130987.2(DYSF):c.5247A>G (p.Arg1749=)

rs750877853 
NM_001130987.2(DYSF):c.5250C>T (p.Val1750=)

rs1573061231 
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)

rs957111625 
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)

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

rs757240900 
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)

rs147678255 
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=)

rs748704263 
NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr)

rs886042493 
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln)


NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)


NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr)

rs866367366 
NM_001130987.2(DYSF):c.5317+192C>T

rs17007169 
NM_001130987.2(DYSF):c.5317+1G>A

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

rs57544779 
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)

rs1573078295 
NM_001130987.2(DYSF):c.5341C>T (p.His1781Tyr)

rs776911222 
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=)

rs140812535 
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.5389C>G (p.Gln1797Glu)

rs370866476 
NM_001130987.2(DYSF):c.5402C>T (p.Pro1801Leu)


NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=)

rs771738959 
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)


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

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

rs375787986 
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=)

rs763198861 
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)

rs769873428 
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser)

rs753632964 
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=)

rs727503913 
NM_001130987.2(DYSF):c.5452G>A (p.Glu1818Lys)


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

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

rs114501428 
NM_001130987.2(DYSF):c.545817G>A

rs147638721 
NM_001130987.2(DYSF):c.54581G>A

rs886042879 
NM_001130987.2(DYSF):c.54582A>C

rs398123792 
NM_001130987.2(DYSF):c.54584G>A

rs749655069 
NM_001130987.2(DYSF):c.54585C>T

rs780391061 
NM_001130987.2(DYSF):c.5459G>A (p.Gly1820Glu)

rs886042341 
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)

rs1553415109 
NM_001130987.2(DYSF):c.5474G>A (p.Trp1825Ter)


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.5483T>C (p.Leu1828Pro)

rs727503914 
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)

rs145832952 
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=)

rs759536240 
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.5531del (p.Pro1844fs)


NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)

rs1553415211 
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)

rs369627849 
NM_001130987.2(DYSF):c.553G>A (p.Asp185Asn)


NM_001130987.2(DYSF):c.55475del

rs199799717 
NM_001130987.2(DYSF):c.5548C>T

rs1257627361 
NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val)

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


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

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

rs1553415233 
NM_001130987.2(DYSF):c.5546+7T>C

rs1573092033 
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

rs786205084 
NM_001130987.2(DYSF):c.55471G>C

rs1573094617 
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.5571G>C (p.Trp1857Cys)

rs1573094789 
NM_001130987.2(DYSF):c.5585T>A (p.Val1862Glu)

rs886043339 
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)

rs781732915 
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro)


NM_001130987.2(DYSF):c.5594A>G (p.Asp1865Gly)

rs773950181 
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=)

rs759960173 
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)


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

rs201592500 
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)

rs1553415622 
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.5630T>C (p.Ile1877Thr)


NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)

rs886042880 
NM_001130987.2(DYSF):c.5642+1G>A

rs727503915 
NM_001130987.2(DYSF):c.5642+3dup

rs1341734203 
NM_001130987.2(DYSF):c.5642+64T>C

rs112864238 
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)

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

rs375507062 
NM_001130987.2(DYSF):c.56437T>G

rs1553416025 
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.5682C>T (p.Asp1894=)

rs780040380 
NM_001130987.2(DYSF):c.5687A>T (p.His1896Leu)

rs199601326 
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His)


NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=)

rs780923865 
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser)

rs886044266 
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)

rs543664648 
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.5727G>T (p.Arg1909Ser)

rs1336670524 
NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser)


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.5757del (p.Glu1920fs)

rs1573100371 
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)

rs398123795 
NM_001130987.2(DYSF):c.5763del (p.Val1922fs)

rs1553416197 
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe)

rs886044130 
NM_001130987.2(DYSF):c.5771C>T (p.Thr1924Ile)


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

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

rs3791829 
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

rs2559080 
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.57859C>T

rs573892877 
NM_001130987.2(DYSF):c.5811T>A (p.Thr1937=)

rs1558800137 
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.5831G>A (p.Arg1944Gln)

rs886043057 
NM_001130987.2(DYSF):c.583C>G (p.Gln195Glu)


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

rs772521748 
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)

rs1573138313 
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)

rs1573138336 
NM_001130987.2(DYSF):c.5874T>C (p.Asp1958=)

rs750860886 
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)

rs750860886 
NM_001130987.2(DYSF):c.5884+1G>A

rs756689063 
NM_001130987.2(DYSF):c.5884+6C>T

rs144355449 
NM_001130987.2(DYSF):c.5884+71C>T

rs72904668 
NM_001130987.2(DYSF):c.5884+7G>A

rs578068243 
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.5916C>G (p.Pro1972=)

rs375483537 
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr)

rs1254719758 
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)

rs1573176526 
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)


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

rs759198745 
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=)

rs886043955 
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)

rs1553420738 
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met)

rs536703008 
NM_001130987.2(DYSF):c.5946C>G (p.Ser1982=)

rs140341988 
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.5992C>G (p.Leu1998Val)


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

rs1064794020 
NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg)

rs886043194 
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.6028T>C (p.Cys2010Arg)

rs1553420858 
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)

rs201784424 
NM_001130987.2(DYSF):c.603G>A (p.Glu201=)


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

rs34999029 
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)

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

rs79215518 
NM_001130987.2(DYSF):c.60641G>C

rs886042636 
NM_001130987.2(DYSF):c.6064201G>T

rs7558412 
NM_001130987.2(DYSF):c.6064273A>G

rs59587819 
NM_001130987.2(DYSF):c.606433G>A

rs117788234 
NM_001130987.2(DYSF):c.6065G>A (p.Gly2022Asp)

rs886043391 
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.6080C>T (p.Thr2027Ile)

rs886043782 
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.6115C>T (p.Arg2039Trp)

rs149357145 
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

rs115407852 
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp)


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.6139G>T (p.Glu2047Ter)

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

rs1558817973 
NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg)

rs886044643 
NM_001130987.2(DYSF):c.6161T>C (p.Leu2054Pro)

rs978055393 
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs)

rs1397263011 
NM_001130987.2(DYSF):c.6173+4A>C

rs749127704 
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)

rs886042452 
NM_001130987.2(DYSF):c.6173G>T (p.Arg2058Met)

rs886042452 
NM_001130987.2(DYSF):c.6174297T>C

rs11897186 
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.6207C>A (p.Ser2069=)

rs754974657 
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=)

rs372244975 
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.6239G>T (p.Arg2080Leu)

rs760119297 
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)

rs121908955 
NM_001130987.2(DYSF):c.6242G>A (p.Arg2081His)


NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)

rs185617318 
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=)

rs886042758 
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.6254C>A (p.Ala2085Asp)


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

rs150834671 
NM_001130987.2(DYSF):c.6258del (p.Ile2087fs)


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.6264C>T (p.Leu2088=)

rs539234900 
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.6274C>G (p.Leu2092Val)

rs1177991658 
NM_001130987.2(DYSF):c.6276C>T (p.Leu2092=)

rs1412512408 
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=)

rs561011151 
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)

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

rs549673939 
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

rs746663568 
NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)

rs886043805 
NM_001130987.2(DYSF):c.631G>A (p.Gly211Ser)

rs886044549 
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)

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

rs2559082 
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)

rs139267208 
NM_001130987.2(DYSF):c.632210C>G

rs755660226 
NM_001130987.2(DYSF):c.63227C>T

rs749806665 
NM_001130987.2(DYSF):c.6329del (p.Ala2110fs)

rs886042991 
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)

rs768820090 
NM_001130987.2(DYSF):c.6332C>T (p.Ala2111Val)


NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)

rs886043884 
NM_001130987.2(DYSF):c.6340C>G (p.Leu2114Val)


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

rs1327953255 
NM_001130987.2(DYSF):c.636G>A (p.Pro212=)

rs185711021 
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser)

rs759455142 
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.665C>T (p.Pro222Leu)


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

rs35392229 
NM_001130987.2(DYSF):c.671G>A (p.Arg224His)

rs373032113 
NM_001130987.2(DYSF):c.676C>G (p.Pro226Ala)


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>G (p.Arg236Gly)


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

rs373585652 
NM_001130987.2(DYSF):c.713C>T (p.Ala238Val)

rs749901429 
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)

rs150029218 
NM_001130987.2(DYSF):c.720A>G (p.Thr240=)

rs886043320 
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe)

rs754343148 
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu)

rs786205525 
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)

rs1573644238 
NM_001130987.2(DYSF):c.754_759+5del


NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)

rs886044381 
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

rs55816929 
NM_001130987.2(DYSF):c.759G>C (p.Gln253His)

rs886044472 
NM_001130987.2(DYSF):c.76017C>T

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

rs1553521641 
NM_001130987.2(DYSF):c.7608G>C

rs748159785 
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.785G>A (p.Arg262His)


NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)

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

rs1573657614 
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)

rs141497053 
NM_001130987.2(DYSF):c.798G>A (p.Gly266=)

rs138466537 
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.819C>G (p.Val273=)

rs1573657928 
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.847C>A (p.Arg283=)

rs769180834 
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp)

rs769180834 
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)

rs1573658295 
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)

rs398123802 
NM_001130987.2(DYSF):c.852G>A (p.Thr284=)

rs1454893867 
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)

rs149827237 
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.870C>G (p.Asn290Lys)

rs766315212 
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+2T>A

rs886042970 
NM_001130987.2(DYSF):c.888+7G>C

rs369722261 
NM_001130987.2(DYSF):c.888+97T>C

rs13428194 
NM_001130987.2(DYSF):c.888G>C (p.Glu296Asp)

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

rs13417592 
NM_001130987.2(DYSF):c.8892A>G

rs934428561 
NM_001130987.2(DYSF):c.88934C>T

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

rs28500662 
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)

rs1337417322 
NM_001130987.2(DYSF):c.906G>A (p.Leu302=)

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

rs61322674 
NM_001130987.2(DYSF):c.921G>A

rs786205524 
NM_001130987.2(DYSF):c.923T>C

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

rs1553522133 
NM_001130987.2(DYSF):c.938C>T (p.Pro313Leu)

rs886043967 
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

rs77936231 
NM_001130987.2(DYSF):c.951+1del

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

rs6546702 
NM_001130987.2(DYSF):c.951+2T>G

rs886042590 
NM_001130987.2(DYSF):c.951+39T>C

rs74384941 
NM_001130987.2(DYSF):c.951+3_951+4del

rs1573663867 
NM_001130987.2(DYSF):c.951+4T>C

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

rs11887692 
NM_001130987.2(DYSF):c.951+83C>T

rs11898499 
NM_001130987.2(DYSF):c.952135C>T

rs79470017 
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.965G>A (p.Arg322His)


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

rs112007817 
NM_001130987.2(DYSF):c.980A>G (p.Asp327Gly)


NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr)


NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)


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>C (p.Gly331Arg)


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

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

rs1258728780 
NM_001130987.2(DYSF):c.995del (p.Glu332fs)

rs886044386 
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.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.5078G>A

rs779987458 
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.12C>G

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

rs6741336 
NM_003494.4(DYSF):c.239C>G


NM_003494.4(DYSF):c.274T>G


NM_003494.4(DYSF):c.278G>C


NM_003494.4(DYSF):c.327G>T


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.17T>A (p.Ile6Asn)

rs1354334539 
NM_003494.4(DYSF):c.1A>G (p.Met1Val)

rs1259378167 
NM_003494.4(DYSF):c.27C>G (p.Ala9=)

rs771520271 
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)

rs1459713589 
NM_003494.4(DYSF):c.4C>T (p.Leu2=)

rs772536111 
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)

rs1553495983 
NM_003494.4(DYSF):c.75C>T (p.Ser25=)

rs375772222 
NM_003494.4(DYSF):c.88+12437C>T

rs6752164 
NM_003494.4(DYSF):c.88+12487C>A

rs72896830 
NM_003494.4(DYSF):c.88+12589T>C

rs58981291 
NM_003494.4(DYSF):c.8G>A (p.Arg3Lys)

rs886043856 
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]


Single allele

