ClinVar Miner

List of variants in gene DYSF reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 674
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HGVS dbSNP
NM_001130978.1(DYSF):c.1813C>T (p.Gln605Ter) rs121908953
NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg) rs121908956
NM_001130978.1(DYSF):c.895G>T (p.Gly299Trp) rs121908963
NM_001130987.1(DYSF):c.*107T>A rs11903223
NM_001130987.1(DYSF):c.1006_1007delGAinsAT (p.Asp336Ile) rs886043469
NM_001130987.1(DYSF):c.1039G>A (p.Ala347Thr) rs745746091
NM_001130987.1(DYSF):c.1080C>T (p.Asp360=) rs886044211
NM_001130987.1(DYSF):c.1093_1094delGC (p.Ala365Glnfs) rs1553525756
NM_001130987.1(DYSF):c.1149+4A>G rs761302882
NM_001130987.1(DYSF):c.1160A>G (p.Lys387Arg) rs886043914
NM_001130987.1(DYSF):c.1167C>G (p.Pro389=) rs886042490
NM_001130987.1(DYSF):c.1167C>T (p.Pro389=) rs886042490
NM_001130987.1(DYSF):c.1167delC (p.Ser390Leufs) rs886044355
NM_001130987.1(DYSF):c.1229G>A (p.Gly410Glu) rs746610724
NM_001130987.1(DYSF):c.1256G>C (p.Arg419Pro) rs776036392
NM_001130987.1(DYSF):c.1267_1276+4dup rs1553529974
NM_001130987.1(DYSF):c.1271C>T (p.Pro424Leu) rs767800266
NM_001130987.1(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.1(DYSF):c.1276+5G>C rs766433603
NM_001130987.1(DYSF):c.1280A>C (p.Asp427Ala) rs1553531687
NM_001130987.1(DYSF):c.1281C>T (p.Asp427=) rs147244033
NM_001130987.1(DYSF):c.1321G>A (p.Glu441Lys) rs886043461
NM_001130987.1(DYSF):c.1329C>A (p.Asn443Lys) rs143355224
NM_001130987.1(DYSF):c.132C>A (p.Asn44Lys) rs772240035
NM_001130987.1(DYSF):c.1332G>T (p.Lys444Asn) rs886043169
NM_001130987.1(DYSF):c.1346A>G (p.Asp449Gly) rs1553531854
NM_001130987.1(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.1(DYSF):c.1371G>C (p.Ala457=) rs140667960
NM_001130987.1(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.1(DYSF):c.1450-3_1450-2delCA rs886043328
NM_001130987.1(DYSF):c.1496A>G (p.Asp499Gly) rs886044185
NM_001130987.1(DYSF):c.1545G>A (p.Ser515=) rs755103680
NM_001130987.1(DYSF):c.1576+1G>A rs886044258
NM_001130987.1(DYSF):c.1577-1699C>T rs183489578
NM_001130987.1(DYSF):c.1577-1G>A rs189923208
NM_001130987.1(DYSF):c.1668C>A (p.Pro556=) rs180970066
NM_001130987.1(DYSF):c.1692+7C>T rs775395972
NM_001130987.1(DYSF):c.1696dup (p.Glu566Glyfs) rs398123772
NM_001130987.1(DYSF):c.2011G>A (p.Gly671Ser) rs538170367
NM_001130987.1(DYSF):c.2070C>T (p.Ile690=) rs746480529
NM_001130987.1(DYSF):c.2088delG (p.Ile699Leufs) rs886044390
NM_001130987.1(DYSF):c.2096T>C (p.Ile699Thr) rs886043230
NM_001130987.1(DYSF):c.2103C>G (p.Asp701Glu) rs886044378
NM_001130987.1(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.1(DYSF):c.2148G>A (p.Ala716=) rs201239189
NM_001130987.1(DYSF):c.2153G>A (p.Cys718Tyr) rs886042275
NM_001130987.1(DYSF):c.2175G>A (p.Ser725=) rs373820597
NM_001130987.1(DYSF):c.2216G>C (p.Ser739Thr) rs143304754
NM_001130987.1(DYSF):c.2217-1G>T rs886044379
NM_001130987.1(DYSF):c.2226G>A (p.Leu742=) rs145868833
NM_001130987.1(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.1(DYSF):c.2302C>T (p.Gln768Ter) rs1027145211
NM_001130987.1(DYSF):c.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.1(DYSF):c.2411C>A (p.Pro804His) rs768226528
NM_001130987.1(DYSF):c.2420G>C (p.Ser807Thr) rs886043898
NM_001130987.1(DYSF):c.2424G>T (p.Leu808=) rs762226707
NM_001130987.1(DYSF):c.2482C>T (p.Pro828Ser) rs146819460
NM_001130987.1(DYSF):c.2485G>T (p.Ala829Ser) rs562925562
NM_001130987.1(DYSF):c.2510G>A (p.Arg837Gln) rs748636047
NM_001130987.1(DYSF):c.2550_2553delGACA (p.Thr851Serfs) rs755849745
NM_001130987.1(DYSF):c.2611C>T (p.Arg871Trp) rs749542779
NM_001130987.1(DYSF):c.2692G>A (p.Glu898Lys) rs886043846
NM_001130987.1(DYSF):c.2700T>C (p.Tyr900=) rs149979662
NM_001130987.1(DYSF):c.2810G>A (p.Arg937His) rs765601966
NM_001130987.1(DYSF):c.2833G>A (p.Ala945Thr) rs886043185
NM_001130987.1(DYSF):c.2844G>T (p.Trp948Cys) rs727503910
NM_001130987.1(DYSF):c.2864+2T>A rs1553553943
NM_001130987.1(DYSF):c.2866C>G (p.Leu956Val) rs777421461
NM_001130987.1(DYSF):c.2892C>T (p.His964=) rs886044637
NM_001130987.1(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.1(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.1(DYSF):c.2948G>A (p.Trp983Ter) rs1268594965
NM_001130987.1(DYSF):c.2983G>A (p.Gly995Arg) rs778427145
NM_001130987.1(DYSF):c.3049T>C (p.Trp1017Arg) rs886044098
NM_001130987.1(DYSF):c.3052T>C (p.Ser1018Pro) rs886042550
NM_001130987.1(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384
NM_001130987.1(DYSF):c.3080A>T (p.Glu1027Val) rs886044474
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.1(DYSF):c.311C>T (p.Ala104Val) rs767981823
NM_001130987.1(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009
NM_001130987.1(DYSF):c.316C>T (p.Leu106=) rs374934430
NM_001130987.1(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.1(DYSF):c.3176G>A (p.Arg1059His) rs754763074
NM_001130987.1(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858
NM_001130987.1(DYSF):c.3228+7C>T rs534331009
NM_001130987.1(DYSF):c.3285G>C (p.Trp1095Cys) rs886043890
NM_001130987.1(DYSF):c.3297C>A (p.Leu1099=) rs144936357
NM_001130987.1(DYSF):c.3326G>A (p.Arg1109His) rs752424049
NM_001130987.1(DYSF):c.3421_3422delAA (p.Lys1141Glufs) rs748542672
NM_001130987.1(DYSF):c.3446C>T (p.Ser1149Phe) rs959125009
NM_001130987.1(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487
NM_001130987.1(DYSF):c.3483delC (p.Cys1162Alafs) rs886042632
NM_001130987.1(DYSF):c.3493G>C (p.Asp1165His) rs761528558
NM_001130987.1(DYSF):c.3499G>A (p.Gly1167Arg) rs751942463
NM_001130987.1(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.1(DYSF):c.3506G>A (p.Arg1169His) rs780134612
NM_001130987.1(DYSF):c.3520T>C (p.Cys1174Arg) rs886044028
NM_001130987.1(DYSF):c.3574+5G>A rs886043276
NM_001130987.1(DYSF):c.3589G>T (p.Val1197Phe) rs754075406
NM_001130987.1(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029
NM_001130987.1(DYSF):c.3729G>T (p.Val1243=) rs1553375366
NM_001130987.1(DYSF):c.3757-2A>G rs886043149
NM_001130987.1(DYSF):c.3763G>C (p.Asp1255His) rs1553376431
NM_001130987.1(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.1(DYSF):c.3855G>C (p.Ser1285=) rs765136335
NM_001130987.1(DYSF):c.3857G>A (p.Gly1286Glu) rs886043338
NM_001130987.1(DYSF):c.3863T>C (p.Leu1288Pro) rs886042828
NM_001130987.1(DYSF):c.3863T>G (p.Leu1288Arg) rs886042828
NM_001130987.1(DYSF):c.3941C>G (p.Ser1314Ter) rs1553377740
NM_001130987.1(DYSF):c.4015G>T (p.Val1339Phe) rs767889531
NM_001130987.1(DYSF):c.4037C>T (p.Ala1346Val) rs201476613
NM_001130987.1(DYSF):c.4126G>A (p.Val1376Met) rs760627822
NM_001130987.1(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879
NM_001130987.1(DYSF):c.4148C>T (p.Thr1383Met) rs149182447
NM_001130987.1(DYSF):c.4188C>T (p.Pro1396=) rs774464702
NM_001130987.1(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283
NM_001130987.1(DYSF):c.4261G>A (p.Val1421Ile) rs767049254
NM_001130987.1(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856
NM_001130987.1(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358
NM_001130987.1(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.1(DYSF):c.4317dup (p.Ile1440Hisfs) rs1553383144
NM_001130987.1(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756
NM_001130987.1(DYSF):c.4322G>A (p.Arg1441His) rs753156321
NM_001130987.1(DYSF):c.432G>T (p.Pro144=) rs542176164
NM_001130987.1(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595
NM_001130987.1(DYSF):c.4358C>T (p.Ala1453Val) rs754979997
NM_001130987.1(DYSF):c.4387+2T>A rs759939755
NM_001130987.1(DYSF):c.441T>C (p.Pro147=) rs1553520415
NM_001130987.1(DYSF):c.4503G>A (p.Thr1501=) rs531996668
NM_001130987.1(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.1(DYSF):c.4590C>T (p.Cys1530=) rs778185705
NM_001130987.1(DYSF):c.460+2T>G rs750356247
NM_001130987.1(DYSF):c.460+6T>G rs756102619
NM_001130987.1(DYSF):c.4614delT (p.Phe1538Leufs) rs886042578
NM_001130987.1(DYSF):c.4830C>T (p.Ala1610=) rs375485030
NM_001130987.1(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327
NM_001130987.1(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815
NM_001130987.1(DYSF):c.4911+1G>T rs777216777
NM_001130987.1(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.1(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.1(DYSF):c.4997T>C (p.Phe1666Ser) rs1553410562
NM_001130987.1(DYSF):c.5004-1G>A rs886043170
NM_001130987.1(DYSF):c.5044C>T (p.Leu1682=) rs747062865
NM_001130987.1(DYSF):c.5056C>G (p.Leu1686Val) rs886042492
NM_001130987.1(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.1(DYSF):c.5147G>T (p.Arg1716Leu) rs138472236
NM_001130987.1(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.1(DYSF):c.5174+1G>A rs886042581
NM_001130987.1(DYSF):c.5174+5G>T rs745891180
NM_001130987.1(DYSF):c.5202G>T (p.Gln1734His) rs749455148
NM_001130987.1(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006
NM_001130987.1(DYSF):c.5222T>C (p.Leu1741Pro) rs1553413187
NM_001130987.1(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.1(DYSF):c.5304C>A (p.Ser1768=) rs748704263
NM_001130987.1(DYSF):c.5306T>C (p.Ile1769Thr) rs886042493
NM_001130987.1(DYSF):c.5361G>A (p.Glu1787=) rs140812535
NM_001130987.1(DYSF):c.5424C>T (p.Pro1808=) rs137855767
NM_001130987.1(DYSF):c.5450T>G (p.Ile1817Ser) rs753632964
NM_001130987.1(DYSF):c.5458-1G>A rs886042879
NM_001130987.1(DYSF):c.5459G>A (p.Gly1820Glu) rs886042341
NM_001130987.1(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849
NM_001130987.1(DYSF):c.5585T>A (p.Val1862Glu) rs886043339
NM_001130987.1(DYSF):c.5620A>G (p.Met1874Val) rs1553415622
NM_001130987.1(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.1(DYSF):c.5643-7T>G rs1553416025
NM_001130987.1(DYSF):c.565G>A (p.Glu189Lys) rs151054827
NM_001130987.1(DYSF):c.5687A>T (p.His1896Leu) rs199601326
NM_001130987.1(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.1(DYSF):c.5763delA (p.Val1922Serfs) rs1553416197
NM_001130987.1(DYSF):c.5934C>A (p.Ala1978=) rs886043955
NM_001130987.1(DYSF):c.5938A>T (p.Lys1980Ter) rs1553420738
NM_001130987.1(DYSF):c.6019T>C (p.Trp2007Arg) rs886043194
NM_001130987.1(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.1(DYSF):c.6065G>A (p.Gly2022Asp) rs886043391
NM_001130987.1(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.1(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075
NM_001130987.1(DYSF):c.6161T>C (p.Leu2054Pro) rs978055393
NM_001130987.1(DYSF):c.6173G>T (p.Arg2058Met) rs886042452
NM_001130987.1(DYSF):c.6249G>T (p.Arg2083=) rs886042758
NM_001130987.1(DYSF):c.6271_6282dupATCCTCTTCATC (p.Ile2094_Leu2095insIleLeuPheIle) rs749619435
NM_001130987.1(DYSF):c.628G>A (p.Gly210Arg) rs143562525
NM_001130987.1(DYSF):c.6314C>T (p.Ala2105Val) rs886043805
NM_001130987.1(DYSF):c.631G>A (p.Gly211Ser) rs886044549
NM_001130987.1(DYSF):c.6333delC (p.Met2112Terfs) rs886043884
NM_001130987.1(DYSF):c.682dupC (p.His228Profs) rs886042680
NM_001130987.1(DYSF):c.720A>G (p.Thr240=) rs886043320
NM_001130987.1(DYSF):c.746C>T (p.Pro249Leu) rs147876220
NM_001130987.1(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.1(DYSF):c.794C>T (p.Pro265Leu) rs143053635
NM_001130987.1(DYSF):c.847C>A (p.Arg283=) rs769180834
NM_001130987.1(DYSF):c.847C>T (p.Arg283Trp) rs769180834
NM_001130987.1(DYSF):c.853C>T (p.Arg285Trp) rs149827237
NM_001130987.1(DYSF):c.870C>G (p.Asn290Lys) rs766315212
NM_001130987.1(DYSF):c.889-2A>G rs934428561
NM_001130987.1(DYSF):c.906G>A (p.Leu302=) rs916319528
NM_001130987.1(DYSF):c.938C>T (p.Pro313Leu) rs886043967
NM_001130987.1(DYSF):c.951+2T>G rs886042590
NM_001130987.1(DYSF):c.978A>T (p.Thr326=) rs112007817
NM_001130987.2(DYSF):c.*107T>G
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr)
NM_001130987.2(DYSF):c.1260del (p.Glu421Argfs)
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)
NM_001130987.2(DYSF):c.1493+5G>A
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter)
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532Glyfs)
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=)
NM_001130987.2(DYSF):c.1823G>A (p.Arg608His)
NM_001130987.2(DYSF):c.1976_1984+3dup
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn)
NM_001130987.2(DYSF):c.2174C>G (p.Ser725Trp)
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter)
NM_001130987.2(DYSF):c.240-5C>T
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)
NM_001130987.2(DYSF):c.2760dup (p.Lys921Glnfs)
NM_001130987.2(DYSF):c.2888G>C (p.Gly963Ala)
NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile)
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val)
NM_001130987.2(DYSF):c.3164_3169del (p.His1055_Arg1056del)
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)
NM_001130987.2(DYSF):c.3444C>T (p.Val1148=)
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262Metfs)
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
NM_001130987.2(DYSF):c.424C>G (p.Pro142Ala)
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=)
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys)
NM_001130987.2(DYSF):c.4465-8A>G
NM_001130987.2(DYSF):c.4619C>A (p.Thr1540Asn)
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)
NM_001130987.2(DYSF):c.4755+8C>T
NM_001130987.2(DYSF):c.4768del (p.Ile1590Phefs)
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter)
NM_001130987.2(DYSF):c.5139T>G (p.Phe1713Leu)
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe)
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
NM_001130987.2(DYSF):c.5437dup (p.Leu1813Profs)
NM_001130987.2(DYSF):c.5560T>C (p.Cys1854Arg)
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile)
NM_001130987.2(DYSF):c.5784+8T>C
NM_001130987.2(DYSF):c.5884+1G>A
NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr)
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=)
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro)
NM_003494.3(DYSF):c.-7G>A
NM_003494.3(DYSF):c.1020C>G (p.Ser340Arg) rs766891289
NM_003494.3(DYSF):c.1038T>C (p.Pro346=) rs571559303
NM_003494.3(DYSF):c.1049C>T (p.Ala350Val) rs115279465
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1053T>G (p.Pro351=) rs199955501
NM_003494.3(DYSF):c.107_108delAA (p.Lys36Serfs) rs398123764
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1129C>T (p.Arg377Ter) rs758180890
NM_003494.3(DYSF):c.1159C>T (p.Arg387Trp) rs527435707
NM_003494.3(DYSF):c.1168G>A (p.Asp390Asn) rs886042389
NM_003494.3(DYSF):c.1180+11C>T rs35982795
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.124G>A (p.Val42Met) rs374203339
NM_003494.3(DYSF):c.1268G>C (p.Ser423Thr) rs371593605
NM_003494.3(DYSF):c.1284+2T>C rs398123765
NM_003494.3(DYSF):c.1292G>T (p.Ser431Ile) rs1553535807
NM_003494.3(DYSF):c.1311G>A (p.Thr437=) rs150093305
NM_003494.3(DYSF):c.1315A>G (p.Asn439Asp) rs1131691788
NM_003494.3(DYSF):c.1317C>A (p.Asn439Lys) rs398123766
NM_003494.3(DYSF):c.132T>C (p.Pro44=) rs886043852
NM_003494.3(DYSF):c.1343T>C (p.Leu448Pro) rs794727119
NM_003494.3(DYSF):c.1351A>G (p.Met451Val) rs141818764
NM_003494.3(DYSF):c.1353+13C>T rs4852801
NM_003494.3(DYSF):c.1353+7C>T rs199608017
NM_003494.3(DYSF):c.1353G>A (p.Met451Ile) rs146064054
NM_003494.3(DYSF):c.1354-6C>T rs757776087
NM_003494.3(DYSF):c.1368C>A (p.Cys456Ter) rs202044973
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1385G>A (p.Arg462His) rs199879861
NM_003494.3(DYSF):c.1392dupA (p.Asp465Argfs) rs398123767
NM_003494.3(DYSF):c.1398-1G>A rs398123768
NM_003494.3(DYSF):c.1398-2A>G rs398123769
NM_003494.3(DYSF):c.1402C>T (p.Arg468Cys) rs185119682
NM_003494.3(DYSF):c.1422C>A (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1480G>T (p.Glu494Ter) rs886044537
NM_003494.3(DYSF):c.1481-1G>A rs398123770
NM_003494.3(DYSF):c.1509G>A (p.Ser503=) rs760021808
NM_003494.3(DYSF):c.1517C>G (p.Ser506Ter) rs886044410
NM_003494.3(DYSF):c.1522+15C>G rs76402294
NM_003494.3(DYSF):c.1523-10T>C rs371967475
NM_003494.3(DYSF):c.1555G>A (p.Gly519Arg) rs121908962
NM_003494.3(DYSF):c.156G>A (p.Trp52Ter) rs886042641
NM_003494.3(DYSF):c.1572C>T (p.Asn524=) rs139495331
NM_003494.3(DYSF):c.1638+2T>A rs398123771
NM_003494.3(DYSF):c.1639-6T>A rs886039573
NM_003494.3(DYSF):c.1642delG (p.Glu548Lysfs) rs398123772
NM_003494.3(DYSF):c.164dupA (p.Ile57Hisfs) rs863225020
NM_003494.3(DYSF):c.1657C>T (p.Arg553Cys) rs767415886
NM_003494.3(DYSF):c.1658G>A (p.Arg553His) rs1368149283
NM_003494.3(DYSF):c.1663C>T (p.Arg555Trp) rs377735262
NM_003494.3(DYSF):c.1668_1669insGTT (p.Leu556_Leu557insVal) rs1446214240
NM_003494.3(DYSF):c.1683G>A (p.Glu561=) rs370872013
NM_003494.3(DYSF):c.1708C>T (p.Gln570Ter) rs886042633
NM_003494.3(DYSF):c.1731G>A (p.Ala577=) rs35984374
NM_003494.3(DYSF):c.1744C>T (p.Arg582Trp) rs149386446
NM_003494.3(DYSF):c.1745G>T (p.Arg582Leu) rs546679270
NM_003494.3(DYSF):c.1768C>T (p.Arg590Cys) rs745472489
NM_003494.3(DYSF):c.1787C>T (p.Ala596Val) rs146261069
NM_003494.3(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596
NM_003494.3(DYSF):c.1828G>A (p.Ala610Thr) rs886043941
NM_003494.3(DYSF):c.1834C>T (p.Gln612Ter) rs746873768
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1861G>A (p.Gly621Arg) rs886043900
NM_003494.3(DYSF):c.1865A>C (p.Asn622Thr) rs886043196
NM_003494.3(DYSF):c.1877T>C (p.Met626Thr) rs141867897
NM_003494.3(DYSF):c.1890G>A (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1890G>T (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1931-2delA rs774047700
NM_003494.3(DYSF):c.1931-4C>G rs374489513
NM_003494.3(DYSF):c.1931G>A (p.Gly644Glu) rs886042863
NM_003494.3(DYSF):c.1956G>A (p.Trp652Ter) rs794727343
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.1980G>A (p.Val660=) rs138111360
NM_003494.3(DYSF):c.1984T>A (p.Ser662Thr) rs765027098
NM_003494.3(DYSF):c.202G>C (p.Val68Leu) rs114986640
NM_003494.3(DYSF):c.2039G>T (p.Gly680Val) rs770228554
NM_003494.3(DYSF):c.2050C>T (p.Arg684Trp) rs148652047
NM_003494.3(DYSF):c.206T>G (p.Val69Gly) rs886042878
NM_003494.3(DYSF):c.2093C>T (p.Ala698Val) rs145007061
NM_003494.3(DYSF):c.2105C>T (p.Thr702Met) rs775539496
NM_003494.3(DYSF):c.2113G>A (p.Val705Met) rs182450244
NM_003494.3(DYSF):c.2151C>T (p.Ile717=) rs754177085
NM_003494.3(DYSF):c.2162+16C>T rs111389127
NM_003494.3(DYSF):c.2162+6G>C rs747059895
NM_003494.3(DYSF):c.2162+9dup rs760948624
NM_003494.3(DYSF):c.2163-11G>A rs200853014
NM_003494.3(DYSF):c.2163-2A>G rs747289205
NM_003494.3(DYSF):c.2203C>A (p.His735Asn) rs202123283
NM_003494.3(DYSF):c.222G>A (p.Thr74=) rs200957354
NM_003494.3(DYSF):c.2230C>T (p.Arg744Cys) rs181551438
NM_003494.3(DYSF):c.2280C>T (p.Leu760=) rs116204385
NM_003494.3(DYSF):c.2281G>A (p.Gly761Ser) rs138654170
NM_003494.3(DYSF):c.2311C>T (p.Gln771Ter) rs398123773
NM_003494.3(DYSF):c.2316G>A (p.Ala772=) rs553605812
NM_003494.3(DYSF):c.2332C>T (p.Arg778Cys) rs143568054
NM_003494.3(DYSF):c.2348C>T (p.Ala783Val) rs147139414
NM_003494.3(DYSF):c.2352_2355+1delGGAGG rs398123774
NM_003494.3(DYSF):c.2355+1G>A rs151317754
NM_003494.3(DYSF):c.236+20G>A rs12470028
NM_003494.3(DYSF):c.236+31C>G rs78958249
NM_003494.3(DYSF):c.2367C>T (p.Ser789=) rs560856407
NM_003494.3(DYSF):c.237-6T>A rs896011451
NM_003494.3(DYSF):c.2372dupC (p.Asp792Glyfs) rs752479889
NM_003494.3(DYSF):c.2408G>A (p.Arg803His) rs759675023
NM_003494.3(DYSF):c.2423G>A (p.Arg808Gln) rs35297901
NM_003494.3(DYSF):c.243G>A (p.Leu81=) rs756463088
NM_003494.3(DYSF):c.2460T>G (p.Gly820=) rs772432464
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2516C>T (p.Pro839Leu) rs759412160
NM_003494.3(DYSF):c.251C>T (p.Ala84Val) rs772008300
NM_003494.3(DYSF):c.2539C>T (p.Arg847Trp) rs200487610
NM_003494.3(DYSF):c.2568G>A (p.Leu856=) rs191337920
NM_003494.3(DYSF):c.2583A>T (p.Ser861=) rs2288355
NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) rs35884879
NM_003494.3(DYSF):c.2614G>A (p.Glu872Lys) rs200049922
NM_003494.3(DYSF):c.2619G>A (p.Gly873=) rs530181166
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2652C>T (p.Asn884=) rs398123775
NM_003494.3(DYSF):c.2653G>A (p.Glu885Lys) rs770997582
NM_003494.3(DYSF):c.265C>T (p.Arg89Ter) rs794727636
NM_003494.3(DYSF):c.2671G>A (p.Val891Ile) rs201622087
NM_003494.3(DYSF):c.2726G>T (p.Gly909Val) rs1553553778
NM_003494.3(DYSF):c.2763G>A (p.Ser921=) rs148902254
NM_003494.3(DYSF):c.2766C>T (p.Ala922=) rs373328706
NM_003494.3(DYSF):c.276C>T (p.Leu92=) rs138870937
NM_003494.3(DYSF):c.2772G>A (p.Trp924Ter) rs1553553888
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2790G>C (p.Trp930Cys) rs727503910
NM_003494.3(DYSF):c.2801C>T (p.Pro934Leu) rs150717638
NM_003494.3(DYSF):c.2802G>A (p.Pro934=) rs34836829
NM_003494.3(DYSF):c.2810+5G>A rs886044131
NM_003494.3(DYSF):c.2810+8G>A rs371686795
NM_003494.3(DYSF):c.2810C>T (p.Thr937Ile) rs201209494
NM_003494.3(DYSF):c.2811-2A>C rs886043964
NM_003494.3(DYSF):c.2811-7_2811-5delTCC rs761299898
NM_003494.3(DYSF):c.2869C>T (p.Gln957Ter) rs398123776
NM_003494.3(DYSF):c.2870_2874delAGACC (p.Gln957Profs) rs398123777
NM_003494.3(DYSF):c.2875C>T (p.Arg959Trp) rs202218890
NM_003494.3(DYSF):c.2884G>A (p.Gly962Arg) rs151064013
NM_003494.3(DYSF):c.2902A>T (p.Met968Leu) rs144636654
NM_003494.3(DYSF):c.2928C>T (p.Asn976=) rs142404822
NM_003494.3(DYSF):c.2948A>C (p.Lys983Thr) rs34061568
NM_003494.3(DYSF):c.2997G>T (p.Trp999Cys) rs28937581
NM_003494.3(DYSF):c.3011A>G (p.Asn1004Ser) rs772518246
NM_003494.3(DYSF):c.3031+2T>C rs886042951
NM_003494.3(DYSF):c.3032-17G>A rs3764971
NM_003494.3(DYSF):c.3032-17G>T rs3764971
NM_003494.3(DYSF):c.3032-9C>T rs185350547
NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) rs756328339
NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) rs143475751
NM_003494.3(DYSF):c.3059C>T (p.Pro1020Leu) rs764931697
NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) rs398123778
NM_003494.3(DYSF):c.3065G>A (p.Arg1022Gln) rs34211915
NM_003494.3(DYSF):c.3071C>T (p.Pro1024Leu) rs372880553
NM_003494.3(DYSF):c.3112C>T (p.Arg1038Ter) rs369607332
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3115C>T (p.Arg1039Trp) rs760443264
NM_003494.3(DYSF):c.3121C>T (p.Arg1041Cys) rs144598063
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003494.3(DYSF):c.3175-5T>C rs794727532
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) rs150355624
NM_003494.3(DYSF):c.3230G>A (p.Trp1077Ter) rs794727534
NM_003494.3(DYSF):c.3243C>T (p.Leu1081=) rs144936357
NM_003494.3(DYSF):c.3249C>T (p.Tyr1083=) rs201477760
NM_003494.3(DYSF):c.3250C>T (p.Arg1084Cys) rs764208388
NM_003494.3(DYSF):c.3261T>G (p.Asp1087Glu) rs886043916
NM_003494.3(DYSF):c.3268C>T (p.Arg1090Cys) rs377079619
NM_003494.3(DYSF):c.3277C>T (p.Arg1093Cys) rs372817333
NM_003494.3(DYSF):c.3283C>T (p.Arg1095Cys) rs141536854
NM_003494.3(DYSF):c.3289C>T (p.Arg1097Cys) rs147483765
NM_003494.3(DYSF):c.331C>T (p.Gln111Ter) rs746315830
NM_003494.3(DYSF):c.3327_3328delGT (p.Phe1110Cysfs) rs398123780
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.3349-2A>G rs370874727
NM_003494.3(DYSF):c.3355G>A (p.Val1119Met) rs144634077
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3388G>A (p.Val1130Ile) rs148925399
NM_003494.3(DYSF):c.339delA (p.Ala115Profs) rs886042379
NM_003494.3(DYSF):c.3422C>T (p.Thr1141Met) rs140058659
NM_003494.3(DYSF):c.343-17C>T rs370498369
NM_003494.3(DYSF):c.343G>A (p.Ala115Thr)
NM_003494.3(DYSF):c.3444T>A (p.Tyr1148Ter) rs758944159
NM_003494.3(DYSF):c.3444_3445delTGinsAA (p.Tyr1148Ter) rs398123781
NM_003494.3(DYSF):c.3478C>T (p.Gln1160Ter) rs886042091
NM_003494.3(DYSF):c.3484C>T (p.Arg1162Trp) rs759297236
NM_003494.3(DYSF):c.3487G>A (p.Asp1163Asn) rs139194093
NM_003494.3(DYSF):c.3498G>A (p.Ala1166=) rs201319864
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.3(DYSF):c.3512_3513delCT (p.Ser1171Phefs) rs886042827
NM_003494.3(DYSF):c.3516_3517delTT rs766341386
NM_003494.3(DYSF):c.3521-17C>T rs13421969
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.353delT (p.Val118Alafs) rs398123782
NM_003494.3(DYSF):c.3624C>G (p.Ile1208Met) rs148858485
NM_003494.3(DYSF):c.3624C>T (p.Ile1208=) rs148858485
NM_003494.3(DYSF):c.3641C>T (p.Pro1214Leu) rs150942486
NM_003494.3(DYSF):c.3641delC (p.Pro1214Argfs) rs398123783
NM_003494.3(DYSF):c.3677T>G (p.Val1226Gly) rs750397218
NM_003494.3(DYSF):c.3702+9G>T rs191746041
NM_003494.3(DYSF):c.3702T>C (p.Tyr1234=) rs141720146
NM_003494.3(DYSF):c.3703-12C>T rs114968209
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.375G>A (p.Pro125=) rs377056951
NM_003494.3(DYSF):c.3760C>T (p.Arg1254Trp) rs146970014
NM_003494.3(DYSF):c.3770G>A (p.Trp1257Ter) rs1553376538
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.3832C>T (p.Gln1278Ter) rs727503911
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.3853C>T (p.His1285Tyr) rs202061751
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.3903+9G>A rs794727590
NM_003494.3(DYSF):c.3904T>C (p.Ser1302Pro) rs794727597
NM_003494.3(DYSF):c.3914C>A (p.Thr1305Lys) rs116426399
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.393_394delCC (p.Leu132Valfs) rs398123784
NM_003494.3(DYSF):c.394C>T (p.Leu132=) rs886043009
NM_003494.3(DYSF):c.3967C>G (p.Gln1323Glu) rs147950418
NM_003494.3(DYSF):c.3972C>T (p.Asn1324=) rs11558179
NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) rs61742872
NM_003494.3(DYSF):c.4006-7T>A
NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) rs2303606
NM_003494.3(DYSF):c.401C>T (p.Pro134Leu) rs773837400
NM_003494.3(DYSF):c.4024C>T (p.Arg1342Trp) rs199870606
NM_003494.3(DYSF):c.4025G>A (p.Arg1342Gln) rs747583441
NM_003494.3(DYSF):c.4052A>G (p.Asn1351Ser) rs139529811
NM_003494.3(DYSF):c.4060_4062delTCC (p.Ser1354del) rs398123785
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.407delC (p.Pro136Leufs) rs886043342
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4090C>T (p.Gln1364Ter) rs886042095
NM_003494.3(DYSF):c.4168-20G>A rs111935215
NM_003494.3(DYSF):c.4168-8C>T rs772066982
NM_003494.3(DYSF):c.4195C>T (p.Pro1399Ser) rs376134165
NM_003494.3(DYSF):c.4198C>G (p.Pro1400Ala) rs151268930
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.4200C>T (p.Pro1400=) rs142769942
NM_003494.3(DYSF):c.4200dupC (p.Ile1401Hisfs) rs398123786
NM_003494.3(DYSF):c.4238G>A (p.Arg1413His)
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.426C>T (p.Ser142=) rs115390288
NM_003494.3(DYSF):c.428C>A (p.Pro143Gln) rs139654844
NM_003494.3(DYSF):c.4299C>G (p.Tyr1433Ter) rs886043145
NM_003494.3(DYSF):c.429G>A (p.Pro143=) rs542176164
NM_003494.3(DYSF):c.4317C>T (p.Ser1439=) rs886043896
NM_003494.3(DYSF):c.4335C>T (p.Asp1445=) rs61746816
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4396C>A (p.Leu1466Ile) rs375465887
NM_003494.3(DYSF):c.4408C>T (p.Gln1470Ter) rs886044411
NM_003494.3(DYSF):c.4410+7146G>A rs766512164
NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) rs148055736
NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) rs766016391
NM_003494.3(DYSF):c.4439A>C (p.Lys1480Thr) rs398123788
NM_003494.3(DYSF):c.4443C>T (p.Phe1481=) rs544993852
NM_003494.3(DYSF):c.4480T>C (p.Tyr1494His) rs150139276
NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) rs7573406
NM_003494.3(DYSF):c.4510G>A (p.Val1504Ile) rs143895253
NM_003494.3(DYSF):c.4512C>G (p.Val1504=) rs142483266
NM_003494.3(DYSF):c.457+17G>C rs115170960
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.4639-3C>T rs371227553
NM_003494.3(DYSF):c.463G>A (p.Gly155Arg) rs200970855
NM_003494.3(DYSF):c.4663C>T (p.Pro1555Ser) rs149768871
NM_003494.3(DYSF):c.4675G>A (p.Ala1559Thr) rs146213322
NM_003494.3(DYSF):c.4685dupT (p.Met1562Ilefs) rs778065845
NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) rs62145939
NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) rs185596534
NM_003494.3(DYSF):c.4756C>T (p.Arg1586Ter) rs398123789
NM_003494.3(DYSF):c.4787A>G (p.Asn1596Ser) rs772664716
NM_003494.3(DYSF):c.4794G>T (p.Lys1598Asn) rs141704244
NM_003494.3(DYSF):c.4819A>G (p.Ile1607Val) rs138357301
NM_003494.3(DYSF):c.4820T>C (p.Ile1607Thr) rs146384562
NM_003494.3(DYSF):c.4866G>T (p.Thr1622=) rs142301132
NM_003494.3(DYSF):c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) rs786200896
NM_003494.3(DYSF):c.4876G>A (p.Val1626Ile) rs147056383
NM_003494.3(DYSF):c.4886+1249G>T rs886042110
NM_003494.3(DYSF):c.4893C>T (p.Phe1631=) rs151276652
NM_003494.3(DYSF):c.4894G>T (p.Glu1632Ter) rs398123790
NM_003494.3(DYSF):c.4941C>A (p.Leu1647=) rs141476432
NM_003494.3(DYSF):c.4977C>T (p.Ile1659=) rs149087116
NM_003494.3(DYSF):c.4978G>A (p.Gly1660Ser) rs375068646
NM_003494.3(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.3(DYSF):c.5021T>C (p.Phe1674Ser) rs886044317
NM_003494.3(DYSF):c.5022delT (p.Phe1674Leufs) rs1057519132
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5027C>A (p.Ala1676Asp) rs761625265
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5083C>T (p.Gln1695Ter) rs886044422
NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) rs34999029
NM_003494.3(DYSF):c.509C>T (p.Ala170Val) rs34999029
NM_003494.3(DYSF):c.510G>A (p.Ala170=) rs398123791
NM_003494.3(DYSF):c.5147A>T (p.Tyr1716Phe) rs755108809
NM_003494.3(DYSF):c.5149C>T (p.Arg1717Trp) rs148541407
NM_003494.3(DYSF):c.5152A>C (p.Thr1718Pro) rs746919714
NM_003494.3(DYSF):c.5198T>C (p.Ile1733Thr) rs866367366
NM_003494.3(DYSF):c.5200+1G>A rs773386253
NM_003494.3(DYSF):c.5216C>A (p.Pro1739Gln) rs145272777
NM_003494.3(DYSF):c.5245C>T (p.Arg1749Cys) rs545645581
NM_003494.3(DYSF):c.5266C>T (p.Gln1756Ter) rs727503912
NM_003494.3(DYSF):c.5272C>G (p.Gln1758Glu) rs370866476
NM_003494.3(DYSF):c.5302C>T (p.Arg1768Trp) rs746243052
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5334C>T (p.Ile1778=) rs727503913
NM_003494.3(DYSF):c.5341-17G>A rs147638721
NM_003494.3(DYSF):c.5341-2A>C rs398123792
NM_003494.3(DYSF):c.5361C>T (p.Val1787=) rs145143725
NM_003494.3(DYSF):c.5364C>A (p.Asp1788Glu) rs794727690
NM_003494.3(DYSF):c.5366T>C (p.Leu1789Pro) rs727503914
NM_003494.3(DYSF):c.5371C>T (p.Pro1791Ser) rs145832952
NM_003494.3(DYSF):c.5386C>T (p.Arg1796Trp) rs139879284
NM_003494.3(DYSF):c.5429+1G>T rs398123793
NM_003494.3(DYSF):c.5429G>A (p.Arg1810Lys) rs786205084
NM_003494.3(DYSF):c.5441G>A (p.Arg1814His) rs372895279
NM_003494.3(DYSF):c.5444G>T (p.Cys1815Phe) rs886042584
NM_003494.3(DYSF):c.5477A>G (p.Asp1826Gly) rs773950181
NM_003494.3(DYSF):c.5497G>T (p.Glu1833Ter) rs201592500
NM_003494.3(DYSF):c.5508C>T (p.Ser1836=) rs577921112
NM_003494.3(DYSF):c.5509G>A (p.Asp1837Asn) rs398123794
NM_003494.3(DYSF):c.5525+1G>A rs727503915
NM_003494.3(DYSF):c.5529G>A (p.Trp1843Ter) rs886043966
NM_003494.3(DYSF):c.5609G>A (p.Arg1870Lys) rs886043028
NM_003494.3(DYSF):c.5625C>T (p.Phe1875=) rs769289729
NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) rs115013641
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.5644C>T (p.Gln1882Ter) rs398123795
NM_003494.3(DYSF):c.5651G>T (p.Cys1884Phe) rs886044130
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.5668-7G>A rs753861836
NM_003494.3(DYSF):c.5668-8C>T rs201191038
NM_003494.3(DYSF):c.5698_5699delAG (p.Ser1900Glnfs) rs398123796
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.5713C>T (p.Arg1905Ter) rs121908959
NM_003494.3(DYSF):c.5714G>A (p.Arg1905Gln) rs886043057
NM_003494.3(DYSF):c.5757T>C (p.Asp1919=) rs750860886
NM_003494.3(DYSF):c.5757T>G (p.Asp1919Glu) rs750860886
NM_003494.3(DYSF):c.5768-16T>C rs1863812
NM_003494.3(DYSF):c.5836_5839delCAGC (p.Gln1946Trpfs) rs398123797
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.5946+1G>A rs398123798
NM_003494.3(DYSF):c.5946G>A (p.Ala1982=) rs138936064
NM_003494.3(DYSF):c.5947-1G>C rs886042636
NM_003494.3(DYSF):c.594C>T (p.Pro198=) rs376293526
NM_003494.3(DYSF):c.5963C>T (p.Thr1988Ile) rs886043782
NM_003494.3(DYSF):c.5979dupA (p.Glu1994Argfs) rs398123799
NM_003494.3(DYSF):c.5982_5989dupGAGTGAGC (p.His1997Argfs) rs886042318
NM_003494.3(DYSF):c.5983A>C (p.Ser1995Arg) rs201890095
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003494.3(DYSF):c.6022G>A (p.Glu2008Lys) rs886043489
NM_003494.3(DYSF):c.6022G>T (p.Glu2008Ter) rs886043489
NM_003494.3(DYSF):c.6038C>G (p.Pro2013Arg) rs886044643
NM_003494.3(DYSF):c.6056G>A (p.Arg2019Lys) rs886042452
NM_003494.3(DYSF):c.6057-8G>A rs777167646
NM_003494.3(DYSF):c.6057-9C>T rs201070766
NM_003494.3(DYSF):c.6057G>A (p.Arg2019=) rs143762717
NM_003494.3(DYSF):c.6063C>T (p.Pro2021=) rs147263499
NM_003494.3(DYSF):c.610C>T (p.Arg204Ter) rs373585652
NM_003494.3(DYSF):c.6121C>T (p.Arg2041Trp) rs200990851
NM_003494.3(DYSF):c.6122G>T (p.Arg2041Leu) rs760119297
NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) rs121908955
NM_003494.3(DYSF):c.6139A>G (p.Ile2047Val) rs150834671
NM_003494.3(DYSF):c.6157C>G (p.Leu2053Val) rs1177991658
NM_003494.3(DYSF):c.617C>T (p.Ala206Val) rs749901429
NM_003494.3(DYSF):c.6203C>T (p.Pro2068Leu) rs149732545
NM_003494.3(DYSF):c.6204+15C>T rs2559082
NM_003494.3(DYSF):c.6212delC (p.Ala2071Valfs) rs886042991
NM_003494.3(DYSF):c.622A>G (p.Thr208Ala) rs150029218
NM_003494.3(DYSF):c.626C>T (p.Ser209Phe) rs754343148
NM_003494.3(DYSF):c.661C>T (p.Gln221Ter) rs886044381
NM_003494.3(DYSF):c.663+1G>C rs398123800
NM_003494.3(DYSF):c.664-17C>T rs61104194
NM_003494.3(DYSF):c.664-8G>C rs748159785
NM_003494.3(DYSF):c.676G>A (p.Val226Met) rs150345121
NM_003494.3(DYSF):c.681C>T (p.Ile227=) rs138054675
NM_003494.3(DYSF):c.701G>A (p.Gly234Glu) rs141497053
NM_003494.3(DYSF):c.703G>A (p.Val235Met) rs750724439
NM_003494.3(DYSF):c.707A>C (p.Asn236Thr) rs150917600
NM_003494.3(DYSF):c.730_740delACCGCTGCAGGinsGCCCT (p.Thr244_Gly247delinsAlaLeu) rs398123801
NM_003494.3(DYSF):c.755C>T (p.Thr252Met) rs398123802
NM_003494.3(DYSF):c.758G>A (p.Arg253Gln) rs140002194
NM_003494.3(DYSF):c.764A>C (p.His255Pro) rs398123803
NM_003494.3(DYSF):c.781C>T (p.Leu261Phe) rs398123804
NM_003494.3(DYSF):c.790G>T (p.Glu264Ter) rs794727851
NM_003494.3(DYSF):c.792+11T>C rs13428076
NM_003494.3(DYSF):c.792+1G>A rs886044377
NM_003494.3(DYSF):c.792+2T>A rs886042970
NM_003494.3(DYSF):c.792G>C (p.Glu264Asp) rs398123805
NM_003494.3(DYSF):c.797T>G (p.Leu266Arg) rs398123806
NM_003494.3(DYSF):c.826delG (p.Glu276Serfs) rs1553522133
NM_003494.3(DYSF):c.851T>C (p.Ile284Thr) rs1553522164
NM_003494.3(DYSF):c.854C>T (p.Thr285Met) rs372952394
NM_003494.3(DYSF):c.855+39T>C rs74384941
NM_003494.3(DYSF):c.855+4T>C rs11903960
NM_003494.3(DYSF):c.857T>A (p.Val286Glu) rs398123807
NM_003494.3(DYSF):c.865T>C (p.Ser289Pro) rs398123808
NM_003494.3(DYSF):c.866C>G (p.Ser289Cys) rs776921154
NM_003494.3(DYSF):c.866C>T (p.Ser289Phe) rs776921154
NM_003494.3(DYSF):c.894C>T (p.Leu298=) rs140809078
NM_003494.3(DYSF):c.895G>A (p.Gly299Arg) rs121908963
NM_003494.3(DYSF):c.899delA (p.Glu300Glyfs) rs886044386
NM_003494.3(DYSF):c.8G>A (p.Arg3Lys) rs886043856
NM_003494.3(DYSF):c.912C>T (p.Asp304=) rs146687581
NM_003494.3(DYSF):c.937+1G>A rs201869739
NM_003494.3(DYSF):c.937+2T>C rs886042617
NM_003494.3(DYSF):c.937+4A>T rs1397221551
NM_003494.3(DYSF):c.938-20G>A rs12713756
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356
NM_003494.3(DYSF):c.945C>A (p.Ala315=) rs1553525671
NM_003494.3(DYSF):c.967C>T (p.Leu323Phe) rs886044387

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