ClinVar Miner

List of variants in gene DYSF

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1202
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HGVS dbSNP
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.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1003-73A>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.1034-196C>G
NM_001130987.2(DYSF):c.1034-20G>A rs12713756
NM_001130987.2(DYSF):c.1034-27A>G
NM_001130987.2(DYSF):c.1034-64C>T
NM_001130987.2(DYSF):c.1034-68T>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.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1277-48A>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.1381-2A>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.1450-15C>T rs376442287
NM_001130987.2(DYSF):c.1450-88A>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.148-277T>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.1494-163G>T
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-2A>G rs398123769
NM_001130987.2(DYSF):c.1494-76G>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.1577-103G>A
NM_001130987.2(DYSF):c.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929
NM_001130987.2(DYSF):c.1577-1651delinsAA rs1553541329
NM_001130987.2(DYSF):c.1577-1664C>T
NM_001130987.2(DYSF):c.1577-1679G>T rs1057524492
NM_001130987.2(DYSF):c.1577-1686C>G
NM_001130987.2(DYSF):c.1577-1686C>T rs368577086
NM_001130987.2(DYSF):c.1577-1692G>A rs398123770
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578
NM_001130987.2(DYSF):c.1577-1825A>G
NM_001130987.2(DYSF):c.1577-1826C>T
NM_001130987.2(DYSF):c.1577-1852G>A
NM_001130987.2(DYSF):c.1577-2A>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.1693-62C>T
NM_001130987.2(DYSF):c.1693-6T>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.1807-10C>T rs749361351
NM_001130987.2(DYSF):c.1807-13T>C
NM_001130987.2(DYSF):c.1807-24C>G rs2303595
NM_001130987.2(DYSF):c.1807-288T>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.1985-116T>C
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.1985-195C>T
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.1985-31C>A rs13424178
NM_001130987.2(DYSF):c.1985-4C>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.2110-331C>G
NM_001130987.2(DYSF):c.2110-43G>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.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.2217-2A>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.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.240-289G>A
NM_001130987.2(DYSF):c.240-5C>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.2410-117A>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.2698-2A>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.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2865-85C>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.2980-15C>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.3086-17G>A rs3764971
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3086-9C>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.3229-306G>A
NM_001130987.2(DYSF):c.3229-31G>A rs72902605
NM_001130987.2(DYSF):c.3229-61G>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.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.3403-112T>C
NM_001130987.2(DYSF):c.3403-121G>C
NM_001130987.2(DYSF):c.3403-2A>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.346-16G>A rs576372858
NM_001130987.2(DYSF):c.346-17C>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.3497-33A>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.3575-12C>T rs200680233
NM_001130987.2(DYSF):c.3575-17C>T rs13421969
NM_001130987.2(DYSF):c.3575-256G>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.3757-12C>T rs114968209
NM_001130987.2(DYSF):c.3757-277C>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.3898-206A>T
NM_001130987.2(DYSF):c.3898-4C>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.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3928-85G>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.3958-79C>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.4060-40C>T rs2303605
NM_001130987.2(DYSF):c.4060-7T>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.4222-20G>A rs111935215
NM_001130987.2(DYSF):c.4222-6A>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.4388-246C>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.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4465-8A>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.4528-127C>T
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862
NM_001130987.2(DYSF):c.4528-56A>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.461-1G>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.4627-292A>G
NM_001130987.2(DYSF):c.4627-305C>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.4756-38G>A
NM_001130987.2(DYSF):c.4756-3C>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.5004-162C>T
NM_001130987.2(DYSF):c.5004-37C>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.5318-225A>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.5458-17G>A rs147638721
NM_001130987.2(DYSF):c.5458-2A>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.554-75del
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.5547-4C>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.5643-12A>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.5785-185G>A
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-41C>T rs2559081
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5785-8C>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.5885-16T>C rs1863812
NM_001130987.2(DYSF):c.5885-1G>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.6064-184T>A
NM_001130987.2(DYSF):c.6064-201G>T
NM_001130987.2(DYSF):c.6064-273A>G
NM_001130987.2(DYSF):c.6064-33G>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.6174-297T>C
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6174-8G>A rs777167646
NM_001130987.2(DYSF):c.6174-9C>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.760-17C>T rs61104194
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC 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.889-104G>A
NM_001130987.2(DYSF):c.889-34C>T rs115184725
NM_001130987.2(DYSF):c.889-68G>A
NM_001130987.2(DYSF):c.889-6C>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.92-3T>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.952-135C>T
NM_001130987.2(DYSF):c.952-2A>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.2512-1495_3148del
NM_003494.3(DYSF):c.2512-1496_3149del
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2811-7_2811-5delTCC 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.1054-43_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.1354-3_1354-2del rs886043328
NM_003494.4(DYSF):c.1354-6C>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.1523-1G>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.2163-1G>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.237-6T>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.3175-5T>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.3703-2A>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.4168-8C>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.4887-1G>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.5341-1G>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.5526-7T>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.5947-1G>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.664-8G>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.793-2A>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.89-1G>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]

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