ClinVar Miner

List of variants in gene DYSF reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 682
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HGVS dbSNP
NM_001130987.2(DYSF):c.*107T>G rs11903223
NM_001130987.2(DYSF):c.*142G>A rs774156078
NM_001130987.2(DYSF):c.*179G>A rs886056284
NM_001130987.2(DYSF):c.*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.1006_1007delinsAT (p.Asp336Ile) rs886043469
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) rs745746091
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=) rs1553525671
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=) rs778686949
NM_001130987.2(DYSF):c.1063C>T (p.Leu355Phe) rs886044387
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=) rs886044211
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398
NM_001130987.2(DYSF):c.1149+1G>C
NM_001130987.2(DYSF):c.1149+4A>G rs761302882
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1160A>G (p.Lys387Arg) rs886043914
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=) rs886042490
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=) rs886042490
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=) rs781380886
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1256G>C (p.Arg419Pro) rs776036392
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266
NM_001130987.2(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.2(DYSF):c.1276+13C>T rs373530549
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339
NM_001130987.2(DYSF):c.1280A>C (p.Asp427Ala) rs1553531687
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1321G>A (p.Glu441Lys) rs886043461
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys) rs143355224
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035
NM_001130987.2(DYSF):c.1332G>T (p.Lys444Asn) rs886043169
NM_001130987.2(DYSF):c.1332_1334GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.1346A>G (p.Asp449Gly) rs1553531854
NM_001130987.2(DYSF):c.135T>C (p.Pro45=) rs886043852
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1371G>C (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1380+9C>T
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile) rs1553535807
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788
NM_001130987.2(DYSF):c.1413C>A (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1432A>G (p.Ile478Val)
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.1450-6C>T rs757776087
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu)
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile) rs750819109
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)
NM_001130987.2(DYSF):c.1493+13T>C rs886056279
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.1493+5G>A rs553207755
NM_001130987.2(DYSF):c.1496A>G (p.Asp499Gly) rs886044185
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=) rs755103680
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)
NM_001130987.2(DYSF):c.1576+18T>C rs768373625
NM_001130987.2(DYSF):c.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929
NM_001130987.2(DYSF):c.1577-1663G>A rs760021808
NM_001130987.2(DYSF):c.1577-1664C>T rs144931729
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.1577-1699C>T rs183489578
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser) rs780677692
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=) rs180970066
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg) rs1176279921
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696
NM_001130987.2(DYSF):c.1692+7C>T rs775395972
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.1774G>T (p.Asp592Tyr)
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915
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.1807-10C>T rs749361351
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His) rs371210248
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)
NM_001130987.2(DYSF):c.1882G>A (p.Ala628Thr) rs886043941
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr) rs886043196
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
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.1985-4C>G rs374489513
NM_001130987.2(DYSF):c.1985G>A (p.Gly662Glu) rs886042863
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.205G>A (p.Val69Met) rs114986640
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=) rs746480529
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2096T>C (p.Ile699Thr) rs886043230
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn) rs998827835
NM_001130987.2(DYSF):c.2103C>G (p.Asp701Glu) rs886044378
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser)
NM_001130987.2(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189
NM_001130987.2(DYSF):c.2153G>A (p.Cys718Tyr) rs886042275
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244
NM_001130987.2(DYSF):c.2174C>G (p.Ser725Trp) rs376571932
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=) rs373820597
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085
NM_001130987.2(DYSF):c.2216+6G>C rs747059895
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2216G>C (p.Ser739Thr) rs143304754
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=) rs145868833
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261
NM_001130987.2(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438
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.2370G>A (p.Ala790=) rs553605812
NM_001130987.2(DYSF):c.2371del (p.Glu791fs) rs1559162638
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.240-6T>A rs896011451
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414
NM_001130987.2(DYSF):c.2409+14G>A rs141170955
NM_001130987.2(DYSF):c.2411C>A (p.Pro804His) rs768226528
NM_001130987.2(DYSF):c.2420G>C (p.Ser807Thr) rs886043898
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=) rs762226707
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu) rs121908956
NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys) rs1553550862
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)
NM_001130987.2(DYSF):c.2485G>T (p.Ala829Ser) rs562925562
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047
NM_001130987.2(DYSF):c.2514T>G (p.Gly838=) rs772432464
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val) rs772008300
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160
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.2611C>T (p.Arg871Trp) rs749542779
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro) rs779790516
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly)
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.2692G>A (p.Glu898Lys) rs886043846
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.2780G>T (p.Gly927Val) rs1553553778
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235
NM_001130987.2(DYSF):c.2833G>A (p.Ala945Thr) rs886043185
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2844G>T (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638
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.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2866C>G (p.Leu956Val) rs777421461
NM_001130987.2(DYSF):c.2875G>C (p.Asp959His) rs1553554968
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala) rs764369624
NM_001130987.2(DYSF):c.2892C>T (p.His964=) rs886044637
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile) rs893875655
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822
NM_001130987.2(DYSF):c.2983G>A (p.Gly995Arg) rs778427145
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
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.3043G>A (p.Glu1015Lys)
NM_001130987.2(DYSF):c.3049T>C (p.Trp1017Arg) rs886044098
NM_001130987.2(DYSF):c.3052T>C (p.Ser1018Pro) rs886042550
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384
NM_001130987.2(DYSF):c.3080A>T (p.Glu1027Val) rs886044474
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.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.311C>T (p.Ala104Val) rs767981823
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553
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) rs770883682
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.3169C>T (p.Arg1057Trp) rs760443264
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln) rs372226487
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646
NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val)
NM_001130987.2(DYSF):c.3228+7C>T rs534331009
NM_001130987.2(DYSF):c.3229-5T>C rs794727532
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.3285G>C (p.Trp1095Cys) rs886043890
NM_001130987.2(DYSF):c.3297C>A (p.Leu1099=) rs144936357
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile) rs1553361773
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) rs1553361783
NM_001130987.2(DYSF):c.3315T>G (p.Asp1105Glu) rs886043916
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619
NM_001130987.2(DYSF):c.3322_3324CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3326G>A (p.Arg1109His) rs752424049
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser) rs200334333
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.3446C>T (p.Ser1149Phe) rs959125009
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487
NM_001130987.2(DYSF):c.346-17C>T rs370498369
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met) rs140058659
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His) rs761528558
NM_001130987.2(DYSF):c.3499G>A (p.Gly1167Arg) rs751942463
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396
NM_001130987.2(DYSF):c.3520T>C (p.Cys1174Arg) rs886044028
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) rs770648429
NM_001130987.2(DYSF):c.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.3574+5G>A rs886043276
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3589G>T (p.Val1197Phe) rs754075406
NM_001130987.2(DYSF):c.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.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=) rs1553375366
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly) rs750397218
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=) rs375160101
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.3763G>C (p.Asp1255His) rs1553376431
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3855G>C (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3857G>A (p.Gly1286Glu) rs886043338
NM_001130987.2(DYSF):c.3863T>C (p.Leu1288Pro) rs886042828
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg) rs886042828
NM_001130987.2(DYSF):c.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.3957+9G>A rs794727590
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro) rs794727597
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095
NM_001130987.2(DYSF):c.397C>T (p.Leu133=) rs886043009
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=) rs751571463
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) rs760074198
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His) rs61742872
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731
NM_001130987.2(DYSF):c.4060-7T>A rs753614306
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.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.4148C>T (p.Thr1383Met) rs149182447
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp) rs368601323
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283
NM_001130987.2(DYSF):c.4222-8C>T rs772066982
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.4260C>T (p.Thr1420=) rs547886773
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254
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) rs749028996
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837
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.4322G>A (p.Arg1441His) rs753156321
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys)
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.432G>T (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=) rs886043896
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816
NM_001130987.2(DYSF):c.441T>C (p.Pro147=) rs1553520415
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.4429G>A (p.Asp1477Asn)
NM_001130987.2(DYSF):c.443A>G (p.Asp148Gly)
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile) rs375465887
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 rs772118450
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser) rs766512164
NM_001130987.2(DYSF):c.4481C>T (p.Ser1494Leu)
NM_001130987.2(DYSF):c.4503G>A (p.Thr1501=) rs531996668
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
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.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)
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.460+6T>G rs756102619
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) rs200809348
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.4702C>T (p.Arg1568Trp) rs375698433
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) rs144422408
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)
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.4801A>G (p.Met1601Val)
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.4830C>T (p.Ala1610=) rs375485030
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.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.4874G>A (p.Arg1625Gln) rs538781815
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.4997T>C (p.Phe1666Ser) rs1553410562
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652
NM_001130987.2(DYSF):c.5044C>T (p.Leu1682=) rs747062865
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
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.5094C>T (p.Ile1698=) rs149087116
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463
NM_001130987.2(DYSF):c.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.5144C>A (p.Ala1715Asp) rs761625265
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236
NM_001130987.2(DYSF):c.5147G>T (p.Arg1716Leu) rs138472236
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5174+5G>T rs745891180
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532
NM_001130987.2(DYSF):c.5202G>T (p.Gln1734His) rs749455148
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg) rs776452710
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006
NM_001130987.2(DYSF):c.5222T>C (p.Leu1741Pro) rs1553413187
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=) rs1558771751
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=) rs748704263
NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr) rs886042493
NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr) rs866367366
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)
NM_001130987.2(DYSF):c.5341C>T (p.His1781Tyr)
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=) rs140812535
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe) rs1558778541
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg) rs1558778744
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln)
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=) rs763198861
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser) rs753632964
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=) rs727503913
NM_001130987.2(DYSF):c.5458-17G>A rs147638721
NM_001130987.2(DYSF):c.5459G>A (p.Gly1820Glu) rs886042341
NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu) rs794727690
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
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.5540C>T (p.Ala1847Val) rs1436866611
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.5585T>A (p.Val1862Glu) rs886043339
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915
NM_001130987.2(DYSF):c.5594A>G (p.Asp1865Gly) rs773950181
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val) rs1553415622
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5643-12A>G rs375507062
NM_001130987.2(DYSF):c.5643-7T>G rs1553416025
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.5687A>T (p.His1896Leu) rs199601326
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
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) rs543664648
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)
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.5831G>A (p.Arg1944Gln) rs886043057
NM_001130987.2(DYSF):c.5874T>C (p.Asp1958=) rs750860886
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr) rs1254719758
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met) rs536703008
NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg) rs886043194
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064
NM_001130987.2(DYSF):c.6065G>A (p.Gly2022Asp) rs886043391
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791
NM_001130987.2(DYSF):c.6080C>T (p.Thr2027Ile) rs886043782
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489
NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg) rs886044643
NM_001130987.2(DYSF):c.6161T>C (p.Leu2054Pro) rs978055393
NM_001130987.2(DYSF):c.6173+4A>C rs749127704
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.6173G>T (p.Arg2058Met) rs886042452
NM_001130987.2(DYSF):c.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.6210A>G (p.Pro2070=) rs372244975
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851
NM_001130987.2(DYSF):c.6239G>T (p.Arg2080Leu) rs760119297
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=) rs886042758
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.6274C>G (p.Leu2092Val) rs1177991658
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568
NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val) rs886043805
NM_001130987.2(DYSF):c.631G>A (p.Gly211Ser) rs886044549
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545
NM_001130987.2(DYSF):c.6329del (p.Ala2110fs) rs886042991
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) rs759455142
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
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.713C>T (p.Ala238Val) rs749901429
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.720A>G (p.Thr240=) rs886043320
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe) rs754343148
NM_001130987.2(DYSF):c.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.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.760-8G>C rs748159785
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.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.847C>A (p.Arg283=) rs769180834
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp) rs769180834
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194
NM_001130987.2(DYSF):c.860A>C (p.His287Pro) rs398123803
NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys) rs766315212
NM_001130987.2(DYSF):c.877C>T (p.Leu293Phe) rs398123804
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781
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.938C>T (p.Pro313Leu) rs886043967
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394
NM_001130987.2(DYSF):c.951+3_951+4del
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_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.4(DYSF):c.-7G>A rs1558905040
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.8G>A (p.Arg3Lys) rs886043856

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