ClinVar Miner

List of variants in gene DYSF reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 388
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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
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1033+1G>A rs201869739
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339
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.132C>A (p.Asn44Lys) rs772240035
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054
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.1481G>A (p.Arg494His) rs199879861
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682
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.1549A>T (p.Ile517Phe)
NM_001130987.2(DYSF):c.1577-1664C>T
NM_001130987.2(DYSF):c.1577-1686C>G
NM_001130987.2(DYSF):c.1577-1686C>T rs368577086
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
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.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
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.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.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.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=) rs768043804
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=) rs1553544209
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098
NM_001130987.2(DYSF):c.205G>A (p.Val69Met)
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
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.2116G>A (p.Gly706Ser)
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.2239G>A (p.Glu747Lys)
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)
NM_001130987.2(DYSF):c.2427G>A (p.Pro809=) rs139422989
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)
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.2642A>C (p.Asp881Ala) rs35884879
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.2707G>A (p.Glu903Lys) rs770997582
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)
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+5G>A rs886044131
NM_001130987.2(DYSF):c.2864+8G>A rs371686795
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494
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.289A>C (p.Ser97Arg) rs762400168
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=) rs767589708
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.3000C>A (p.Pro1000=) rs368460619
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568
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.3043G>A (p.Glu1015Lys)
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) rs201834175
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.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.3161C>G (p.Thr1054Arg)
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr)
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) 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.3303C>T (p.Tyr1101=) rs201477760
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333
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.3397G>T (p.Ala1133Ser)
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.3403-2A>G rs370874727
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)
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.3563A>T (p.Asp1188Val) rs1442583354
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.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.3696G>A (p.Pro1232=) rs139364929
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)
NM_001130987.2(DYSF):c.3756+9G>T rs191746041
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146
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.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.3836C>T (p.Thr1279Met)
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273
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.3898-4C>G rs555206040
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.397C>T (p.Leu133=) rs886043009
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys)
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942
NM_001130987.2(DYSF):c.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.4060-7T>A
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)
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.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.4279C>T (p.Arg1427Cys) rs138097846
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His)
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.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.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.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.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter) rs778185705
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276
NM_001130987.2(DYSF):c.460+1G>A rs1278864604
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
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.4671G>A (p.Leu1557=) rs749333686
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)
NM_001130987.2(DYSF):c.4756-3C>T rs371227553
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val)
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
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.4859G>A (p.Arg1620His) rs185596534
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.4936A>G (p.Ile1646Val) rs138357301
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
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.5000G>T (p.Gly1667Val)
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652
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.5086G>T (p.Glu1696Ter)
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116
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.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.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.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)
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+1G>A rs773386253
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg) rs1558778744
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln)
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
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.5488C>T (p.Pro1830Ser) rs145832952
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val) rs1436866611
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.5642+1G>A rs727503915
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.5711del (p.Gly1904fs) rs786205081
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.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
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.5874T>G (p.Asp1958Glu) rs750860886
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)
NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=) rs775417000
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
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.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788
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.6256A>G (p.Ile2086Val) rs150834671
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[3] (p.2087_2090ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545
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.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.751G>A (p.Asp251Asn)
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.799G>A (p.Val267Met) rs750724439
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) rs776921154
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078
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.3516_3517delTT rs766341386
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.4(DYSF):c.1054-43_1059delinsA
NM_003494.4(DYSF):c.1268G>C (p.Ser423Thr) rs371593605
NM_003494.4(DYSF):c.1284+9C>T
NM_003494.4(DYSF):c.1523-1G>A rs189923208
NM_003494.4(DYSF):c.1868del (p.Lys623fs)
NM_003494.4(DYSF):c.2016del (p.Ile672fs)
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.2872A>G (p.Thr958Ala) rs886044026
NM_003494.4(DYSF):c.3071C>T (p.Pro1024Leu) rs372880553
NM_003494.4(DYSF):c.3452G>A (p.Arg1151His) rs780134612
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs) rs766341386
NM_003494.4(DYSF):c.3805dup (p.Glu1269fs)
NM_003494.4(DYSF):c.4094C>T (p.Thr1365Met) rs149182447
NM_003494.4(DYSF):c.4474G>A (p.Gly1492Ser) rs747398354
NM_003494.4(DYSF):c.4714G>A (p.Ala1572Thr) rs143163327
NM_003494.4(DYSF):c.4978G>A (p.Gly1660Ser) rs375068646
NM_003494.4(DYSF):c.5272C>G (p.Gln1758Glu) rs370866476
NM_003494.4(DYSF):c.5767+1G>A
NM_003494.4(DYSF):c.5821A>T (p.Lys1941Ter) rs1553420738
NM_003494.4(DYSF):c.5998C>T (p.Arg2000Trp) rs149357145
NM_003494.4(DYSF):c.6049del (p.Asp2017fs)
NM_003494.4(DYSF):c.6056G>A (p.Arg2019Lys) rs886042452
NM_003494.4(DYSF):c.663G>C (p.Gln221His) rs886044472

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