ClinVar Miner

List of variants in gene DYSF reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 448
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HGVS dbSNP
NM_001130987.2(DYSF):c.*107T>G
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339
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.1364G>C (p.Ser455Thr) rs371593605
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
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+7C>T rs199608017
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054
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.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1577-1664C>T
NM_001130987.2(DYSF):c.1577-1679G>T rs1057524492
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)
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.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.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=) rs370872013
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.1823G>A (p.Arg608His)
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1976_1984+3dup rs1559142399
NM_001130987.2(DYSF):c.1985-4C>G rs374489513
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367
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.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn)
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047
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.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+9dup rs760948624
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=) rs145868833
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.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=) rs762226707
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
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.2593C>T (p.Arg865Trp) rs200487610
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
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.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.2810G>A (p.Arg937His) rs765601966
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.2855C>T (p.Pro952Leu) rs150717638
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.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala)
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
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.2982C>T (p.Asn994=) rs142404822
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.3065A>G (p.Asn1022Ser) rs772518246
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
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.3125C>T (p.Pro1042Leu) rs372880553
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009
NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del) rs1559185944
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.3228+7C>T rs534331009
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357
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.3343C>T (p.Arg1115Cys) rs147483765
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077
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.346-17C>T rs370498369
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)
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.350C>T (p.Ser117Leu)
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.3552G>A (p.Ala1184=) rs201319864
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.3741C>T (p.Tyr1247=)
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3898-4C>G rs555206040
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
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.4037C>T (p.Ala1346Val) rs201476613
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4060-7T>A
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.4111_4113TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met) rs760627822
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
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.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.4260C>T (p.Thr1420=)
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys)
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)
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.4355C>T (p.Ser1452Leu) rs139411595
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile) rs375465887
NM_001130987.2(DYSF):c.4465-8A>G
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.4542C>T (p.Ile1514=) rs148055736
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
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.4619C>A (p.Thr1540Asn)
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)
NM_001130987.2(DYSF):c.4755+8C>T rs1278005040
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.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652
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.5138T>C (p.Phe1713Ser) rs886044317
NM_001130987.2(DYSF):c.5139T>G (p.Phe1713Leu) rs1305077427
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
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.5269A>C (p.Thr1757Pro) rs746919714
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe) rs1558778541
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476
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.5458-17G>A rs147638721
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.5533C>T (p.Arg1845Trp) rs369627849
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.559G>A (p.Gly187Arg) rs200970855
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile) rs1558787823
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)
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.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5784+8T>C rs1558788338
NM_001130987.2(DYSF):c.5785-8C>T rs201191038
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr) rs1254719758
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met) rs536703008
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791
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.6133C>T (p.Arg2045Trp) rs200921075
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489
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.6238C>T (p.Arg2080Trp) rs200990851
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.6312C>T (p.Tyr2104=)
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro) rs1559048753
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) rs147876220
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635
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.854G>A (p.Arg285Gln) rs140002194
NM_001130987.2(DYSF):c.860A>C (p.His287Pro) rs398123803
NM_001130987.2(DYSF):c.877C>T (p.Leu293Phe) rs398123804
NM_001130987.2(DYSF):c.888G>C (p.Glu296Asp) rs398123805
NM_001130987.2(DYSF):c.893T>G (p.Leu298Arg) rs398123806
NM_001130987.2(DYSF):c.906G>A (p.Leu302=) rs916319528
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.953T>A (p.Val318Glu) rs398123807
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_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.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.1133G>A (p.Gly378Glu) rs746610724
NM_003494.4(DYSF):c.1160G>C (p.Arg387Pro) rs776036392
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.1275G>C (p.Ala425=) rs140667960
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.1354-6C>T rs757776087
NM_003494.4(DYSF):c.1397+5G>A
NM_003494.4(DYSF):c.1400A>G (p.Asp467Gly) rs886044185
NM_003494.4(DYSF):c.1449G>A (p.Ser483=) rs755103680
NM_003494.4(DYSF):c.1509G>A (p.Ser503=) rs760021808
NM_003494.4(DYSF):c.1614C>A (p.Pro538=) rs180970066
NM_003494.4(DYSF):c.1638+7C>T rs775395972
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.1931G>A (p.Gly644Glu) rs886042863
NM_003494.4(DYSF):c.2016C>T (p.Ile672=) rs746480529
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.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.2460T>G (p.Gly820=) rs772432464
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.2779G>A (p.Ala927Thr) rs886043185
NM_003494.4(DYSF):c.2790G>T (p.Trp930Cys) rs727503910
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.2889C>T (p.Gly963=) rs886042637
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.3022G>A (p.Asp1008Asn) rs200943384
NM_003494.4(DYSF):c.3026A>T (p.Glu1009Val) rs886044474
NM_003494.4(DYSF):c.308C>T (p.Ala103Val) rs767981823
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.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.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.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.3466T>C (p.Cys1156Arg) rs886044028
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.3709G>C (p.Asp1237His) rs1553376431
NM_003494.4(DYSF):c.375G>T (p.Pro125=) rs377056951
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.3809T>C (p.Leu1270Pro) rs886042828
NM_003494.4(DYSF):c.3809T>G (p.Leu1270Arg) rs886042828
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.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.4240C>T (p.Arg1414Trp) rs774011358
NM_003494.4(DYSF):c.4241G>T (p.Arg1414Leu) rs761337469
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.438T>C (p.Pro146=) rs1553520415
NM_003494.4(DYSF):c.457+6T>G rs756102619
NM_003494.4(DYSF):c.4713C>T (p.Ala1571=) rs375485030
NM_003494.4(DYSF):c.4757G>A (p.Arg1586Gln) rs538781815
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.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.4C>T (p.Leu2=) rs772536111
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.5057+5G>T rs745891180
NM_003494.4(DYSF):c.5085G>T (p.Gln1695His) rs749455148
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.5333T>G (p.Ile1778Ser) rs753632964
NM_003494.4(DYSF):c.5334C>T (p.Ile1778=) rs727503913
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.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.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.5714G>A (p.Arg1905Gln) rs886043057
NM_003494.4(DYSF):c.5757T>C (p.Asp1919=) rs750860886
NM_003494.4(DYSF):c.5817C>A (p.Ala1939=) rs886043955
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.5948G>A (p.Gly1983Asp) rs886043391
NM_003494.4(DYSF):c.5963C>T (p.Thr1988Ile) rs886043782
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.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.624A>G (p.Thr208=) rs886043320
NM_003494.4(DYSF):c.626C>T (p.Ser209Phe) rs754343148
NM_003494.4(DYSF):c.664-8G>C rs748159785
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.774C>G (p.Asn258Lys) rs766315212
NM_003494.4(DYSF):c.842C>T (p.Pro281Leu) rs886043967
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+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

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