ClinVar Miner

List of variants in gene DYSF reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 623
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HGVS dbSNP
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.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.1229G>A (p.Gly410Glu) rs746610724
NM_001130987.1(DYSF):c.1256G>C (p.Arg419Pro) rs776036392
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.1496A>G (p.Asp499Gly) rs886044185
NM_001130987.1(DYSF):c.1545G>A (p.Ser515=) rs755103680
NM_001130987.1(DYSF):c.1577-1699C>T rs183489578
NM_001130987.1(DYSF):c.1668C>A (p.Pro556=) rs180970066
NM_001130987.1(DYSF):c.1692+7C>T rs775395972
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.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.2226G>A (p.Leu742=) rs145868833
NM_001130987.1(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.1(DYSF):c.231G>A (p.Gly77=) rs1553508988
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.2444T>A (p.Met815Lys) rs1553550862
NM_001130987.1(DYSF):c.2463_2477dup (p.Val827_Pro828insAlaTyrGlnArgVal) rs1326126736
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.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.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.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.3098_3103dup (p.Ile1034_Thr1035insSerIle) rs1553555901
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.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.3239_3250dup (p.Glu1083_Gly1084insAlaGluAlaGlu) rs398123779
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.3314_3316dup (p.Asp1105_Ala1106insAsp) rs1553361783
NM_001130987.1(DYSF):c.3326G>A (p.Arg1109His) rs752424049
NM_001130987.1(DYSF):c.3331_3333dup (p.Arg1111_Trp1112insArg) rs779680055
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.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.3659C>T (p.Thr1220Met) rs1294912316
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.3763G>C (p.Asp1255His) rs1553376431
NM_001130987.1(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.1(DYSF):c.3792A>G (p.Gln1264=) rs762041312
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.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.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.4294C>T (p.Arg1432Trp) rs774011358
NM_001130987.1(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
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.441T>C (p.Pro147=) rs1553520415
NM_001130987.1(DYSF):c.4503G>A (p.Thr1501=) rs531996668
NM_001130987.1(DYSF):c.4590C>T (p.Cys1530=) rs778185705
NM_001130987.1(DYSF):c.460+6T>G rs756102619
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.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.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+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.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.5642+3dup rs1341734203
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.5934C>A (p.Ala1978=) rs886043955
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.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.870C>G (p.Asn290Lys) rs766315212
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.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.1406C>T (p.Thr469Met)
NM_001130987.2(DYSF):c.1493+5G>A
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg)
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.240-5C>T
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)
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.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.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.4177C>T (p.Arg1393Trp)
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.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.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.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.*142G>A rs774156078
NM_003494.3(DYSF):c.*179G>A rs886056284
NM_003494.3(DYSF):c.*245T>C rs886056285
NM_003494.3(DYSF):c.*267C>G rs181677134
NM_003494.3(DYSF):c.*53G>A rs114777968
NM_003494.3(DYSF):c.*75C>T rs374833260
NM_003494.3(DYSF):c.*78C>T rs367543759
NM_003494.3(DYSF):c.-7G>A
NM_003494.3(DYSF):c.1020C>G (p.Ser340Arg) rs766891289
NM_003494.3(DYSF):c.1040G>A (p.Gly347Glu) rs562361258
NM_003494.3(DYSF):c.1053T>G (p.Pro351=) rs199955501
NM_003494.3(DYSF):c.1119C>T (p.Gly373=) rs754820811
NM_003494.3(DYSF):c.1159C>T (p.Arg387Trp) rs527435707
NM_003494.3(DYSF):c.1160G>A (p.Arg387Gln) rs776036392
NM_003494.3(DYSF):c.1180+13C>T rs373530549
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1191C>T (p.Ala397=) rs769254776
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.1239_1241delGAA (p.Lys413del) rs1553531818
NM_003494.3(DYSF):c.1245G>T (p.Leu415Phe) rs1553531841
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.1274C>T (p.Ala425Val) rs146588926
NM_003494.3(DYSF):c.1284+6G>C rs75796187
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+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.1365G>A (p.Met455Ile)
NM_003494.3(DYSF):c.1385G>A (p.Arg462His) rs199879861
NM_003494.3(DYSF):c.1397+13T>C rs886056279
NM_003494.3(DYSF):c.1397+2dup rs753885022
NM_003494.3(DYSF):c.1402C>T (p.Arg468Cys) rs185119682
NM_003494.3(DYSF):c.1407G>A (p.Leu469=) rs886056280
NM_003494.3(DYSF):c.1415A>G (p.Asn472Ser) rs748826870
NM_003494.3(DYSF):c.1422C>A (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1480+18T>C rs768373625
NM_003494.3(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.3(DYSF):c.1493G>T (p.Gly498Val) rs1057524492
NM_003494.3(DYSF):c.1508C>T (p.Ser503Leu)
NM_003494.3(DYSF):c.1509G>A (p.Ser503=) rs760021808
NM_003494.3(DYSF):c.1522+11G>C rs767550929
NM_003494.3(DYSF):c.1523-10T>C rs371967475
NM_003494.3(DYSF):c.1555G>A (p.Gly519Arg) rs121908962
NM_003494.3(DYSF):c.1564T>C (p.Tyr522His) rs777489323
NM_003494.3(DYSF):c.1622A>G (p.Glu541Gly) rs541663451
NM_003494.3(DYSF):c.1637A>C (p.Lys546Thr) rs561875696
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.1668_1669insGTT (p.Leu556_Leu557insVal) rs1446214240
NM_003494.3(DYSF):c.1683G>A (p.Glu561=) rs370872013
NM_003494.3(DYSF):c.1730C>T (p.Ala577Val) rs201515915
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.1753-10C>T rs749361351
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.1828G>A (p.Ala610Thr) rs886043941
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1863G>A (p.Gly621=) rs769518034
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.1931-4C>G rs374489513
NM_003494.3(DYSF):c.1931G>A (p.Gly644Glu) rs886042863
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>A (p.Val68Met)
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+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.2185G>A (p.Glu729Lys)
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.2276A>G (p.Lys759Arg) rs372475742
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.2316G>A (p.Ala772=) rs553605812
NM_003494.3(DYSF):c.2332C>T (p.Arg778Cys) rs143568054
NM_003494.3(DYSF):c.2339G>A (p.Arg780His) rs763456750
NM_003494.3(DYSF):c.2348C>T (p.Ala783Val) rs147139414
NM_003494.3(DYSF):c.2355+14G>A rs141170955
NM_003494.3(DYSF):c.237-6T>A rs896011451
NM_003494.3(DYSF):c.2372C>T (p.Pro791Leu)
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.2452C>T (p.Arg818Trp)
NM_003494.3(DYSF):c.2455C>T (p.Arg819Trp) rs371841411
NM_003494.3(DYSF):c.2460T>G (p.Gly820=) rs772432464
NM_003494.3(DYSF):c.2494C>A (p.Gln832Lys) rs199543257
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.2536G>A (p.Ala846Thr) rs143632564
NM_003494.3(DYSF):c.2539C>T (p.Arg847Trp) rs200487610
NM_003494.3(DYSF):c.2540G>A (p.Arg847Gln) rs781777155
NM_003494.3(DYSF):c.2558G>C (p.Arg853Pro) rs779790516
NM_003494.3(DYSF):c.2568G>A (p.Leu856=) rs191337920
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.2652C>T (p.Asn884=) rs398123775
NM_003494.3(DYSF):c.2653G>A (p.Glu885Lys) rs770997582
NM_003494.3(DYSF):c.2671G>A (p.Val891Ile) rs201622087
NM_003494.3(DYSF):c.2690C>T (p.Thr897Met)
NM_003494.3(DYSF):c.2723_2734del12 (p.Thr908_Ile911del) rs1553553762
NM_003494.3(DYSF):c.2726G>T (p.Gly909Val) rs1553553778
NM_003494.3(DYSF):c.2735A>G (p.Lys912Arg) rs886056281
NM_003494.3(DYSF):c.2762C>T (p.Ser921Leu) rs535323489
NM_003494.3(DYSF):c.2766C>T (p.Ala922=) rs373328706
NM_003494.3(DYSF):c.2767G>A (p.Gly923Ser)
NM_003494.3(DYSF):c.276C>T (p.Leu92=) rs138870937
NM_003494.3(DYSF):c.277G>A (p.Ala93Thr) rs759171890
NM_003494.3(DYSF):c.277G>C (p.Ala93Pro) rs759171890
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.2806A>G (p.Lys936Glu) rs1038837599
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.2811-7_2811-5delTCC rs761299898
NM_003494.3(DYSF):c.2821G>C (p.Asp941His) rs1553554968
NM_003494.3(DYSF):c.286A>C (p.Ser96Arg) rs762400168
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.2926-15C>T rs148732505
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.295_297delGCC (p.Ala99del) rs1316197789
NM_003494.3(DYSF):c.298A>G (p.Ser100Gly) rs1553518141
NM_003494.3(DYSF):c.2998T>G (p.Ser1000Ala) rs886042550
NM_003494.3(DYSF):c.3011A>G (p.Asn1004Ser) rs772518246
NM_003494.3(DYSF):c.3013C>T (p.Arg1005Trp) rs778316824
NM_003494.3(DYSF):c.3032-17G>T rs3764971
NM_003494.3(DYSF):c.3032-9C>T rs185350547
NM_003494.3(DYSF):c.3048C>G (p.Ile1016Met) rs768787171
NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) rs143475751
NM_003494.3(DYSF):c.3059C>A (p.Pro1020Gln) rs764931697
NM_003494.3(DYSF):c.3059C>T (p.Pro1020Leu) rs764931697
NM_003494.3(DYSF):c.305A>G (p.Asn102Ser) rs201834175
NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) rs398123778
NM_003494.3(DYSF):c.3062A>T (p.Glu1021Val)
NM_003494.3(DYSF):c.3071C>T (p.Pro1024Leu) rs372880553
NM_003494.3(DYSF):c.3085C>G (p.Pro1029Ala) rs1358370392
NM_003494.3(DYSF):c.3107C>G (p.Thr1036Arg)
NM_003494.3(DYSF):c.3107C>T (p.Thr1036Ile) rs770883682
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.3136C>T (p.Arg1046Cys) rs752810646
NM_003494.3(DYSF):c.3175-5T>C rs794727532
NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) rs150355624
NM_003494.3(DYSF):c.3243C>T (p.Leu1081=) rs144936357
NM_003494.3(DYSF):c.3250C>T (p.Arg1084Cys) rs764208388
NM_003494.3(DYSF):c.3257C>T (p.Thr1086Ile) rs1553361773
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.3279_3281delCTG (p.Trp1094del) rs1553361884
NM_003494.3(DYSF):c.3289C>T (p.Arg1097Cys) rs147483765
NM_003494.3(DYSF):c.3290G>A (p.Arg1097His) rs749610930
NM_003494.3(DYSF):c.3343G>T (p.Ala1115Ser)
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.3355G>A (p.Val1119Met) rs144634077
NM_003494.3(DYSF):c.3388G>A (p.Val1130Ile) rs148925399
NM_003494.3(DYSF):c.3422C>T (p.Thr1141Met) rs140058659
NM_003494.3(DYSF):c.3423G>A (p.Thr1141=) rs576460368
NM_003494.3(DYSF):c.343-17C>T rs370498369
NM_003494.3(DYSF):c.3439G>A (p.Asp1147Asn) rs761528558
NM_003494.3(DYSF):c.343G>A (p.Ala115Thr)
NM_003494.3(DYSF):c.3451C>T (p.Arg1151Cys) rs200719174
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.3509A>T (p.Asp1170Val) rs1442583354
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3614_3616delTCT (p.Phe1205del) rs1173583014
NM_003494.3(DYSF):c.3618C>T (p.Tyr1206=) rs143393575
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.3659_3664del6 (p.Gln1220_Pro1221del) rs748683903
NM_003494.3(DYSF):c.3671T>C (p.Ile1224Thr) rs1553375353
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.370A>G (p.Thr124Ala) rs886056278
NM_003494.3(DYSF):c.3724C>T (p.Arg1242Cys) rs369170272
NM_003494.3(DYSF):c.3740C>T (p.Pro1247Leu) rs539141161
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.3782C>T (p.Thr1261Met)
NM_003494.3(DYSF):c.3797C>T (p.Pro1266Leu) rs761916273
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.3846G>A (p.Pro1282=) rs772742658
NM_003494.3(DYSF):c.3853C>T (p.His1285Tyr) rs202061751
NM_003494.3(DYSF):c.3873+10G>A rs886056282
NM_003494.3(DYSF):c.3874-10T>C
NM_003494.3(DYSF):c.3903+9G>A rs794727590
NM_003494.3(DYSF):c.3904T>C (p.Ser1302Pro) rs794727597
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.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.3991C>T (p.Arg1331Cys)
NM_003494.3(DYSF):c.4005G>A (p.Glu1335=) rs773542731
NM_003494.3(DYSF):c.4006-7T>A
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.4071C>T (p.Leu1357=) rs773240314
NM_003494.3(DYSF):c.407delC (p.Pro136Leufs) rs886043342
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4096G>A (p.Val1366Met) rs1404000468
NM_003494.3(DYSF):c.410C>T (p.Thr137Ile) rs766841136
NM_003494.3(DYSF):c.4168-8C>T rs772066982
NM_003494.3(DYSF):c.4190A>G (p.Tyr1397Cys) rs775254512
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.4225C>T (p.Arg1409Cys) rs138097846
NM_003494.3(DYSF):c.4238G>A (p.Arg1413His)
NM_003494.3(DYSF):c.4239_4241delCCG (p.Arg1414del) rs765090357
NM_003494.3(DYSF):c.4241G>A (p.Arg1414Gln) rs761337469
NM_003494.3(DYSF):c.4249G>A (p.Val1417Met) rs766924837
NM_003494.3(DYSF):c.428C>A (p.Pro143Gln) rs139654844
NM_003494.3(DYSF):c.429G>A (p.Pro143=) rs542176164
NM_003494.3(DYSF):c.4302G>A (p.Ser1434=)
NM_003494.3(DYSF):c.4317C>T (p.Ser1439=) rs886043896
NM_003494.3(DYSF):c.4333+3_4333+28del26 rs1553383255
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.4410+7136G>A rs1553389041
NM_003494.3(DYSF):c.4410+7146G>A rs766512164
NM_003494.3(DYSF):c.4410+7T>C rs369949055
NM_003494.3(DYSF):c.4411G>A (p.Glu1471Lys)
NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) rs148055736
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.4474G>A (p.Gly1492Ser) rs747398354
NM_003494.3(DYSF):c.4480T>C (p.Tyr1494His) rs150139276
NM_003494.3(DYSF):c.4491G>T (p.Lys1497Asn) rs182185801
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.4514A>G (p.Tyr1505Cys) rs757820496
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.458-477G>A rs1553520795
NM_003494.3(DYSF):c.4585C>T (p.Arg1529Trp) rs375698433
NM_003494.3(DYSF):c.462A>G (p.Thr154=) rs781732915
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.4693A>G (p.Arg1565Gly)
NM_003494.3(DYSF):c.4702C>T (p.His1568Tyr)
NM_003494.3(DYSF):c.4730A>G (p.Glu1577Gly) rs933715192
NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) rs62145939
NM_003494.3(DYSF):c.4741C>T (p.Arg1581Cys)
NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) rs185596534
NM_003494.3(DYSF):c.4748A>G (p.Tyr1583Cys) rs797045541
NM_003494.3(DYSF):c.4750A>G (p.Ile1584Val) rs571364996
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.4815C>T (p.Ile1605=) rs763309812
NM_003494.3(DYSF):c.4819A>G (p.Ile1607Val) rs138357301
NM_003494.3(DYSF):c.4853A>G (p.Tyr1618Cys) rs759505768
NM_003494.3(DYSF):c.4866G>T (p.Thr1622=) rs142301132
NM_003494.3(DYSF):c.4876G>A (p.Val1626Ile) rs147056383
NM_003494.3(DYSF):c.4893C>T (p.Phe1631=) rs151276652
NM_003494.3(DYSF):c.4957_4959delCTC (p.Leu1653del) rs1163037004
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.4985C>T (p.Thr1662Met) rs143059463
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.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5027C>A (p.Ala1676Asp) rs761625265
NM_003494.3(DYSF):c.5029C>T (p.Arg1677Cys) rs771735871
NM_003494.3(DYSF):c.5030G>A (p.Arg1677His) rs138472236
NM_003494.3(DYSF):c.5033G>C (p.Cys1678Ser) rs753279446
NM_003494.3(DYSF):c.5057+6_5057+7dup rs1553412837
NM_003494.3(DYSF):c.5063G>C (p.Gly1688Ala) rs146153532
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.5093C>G (p.Pro1698Arg)
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.5150G>A (p.Arg1717Gln)
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.5216C>A (p.Pro1739Gln) rs145272777
NM_003494.3(DYSF):c.5245C>T (p.Arg1749Cys) rs545645581
NM_003494.3(DYSF):c.5246G>A (p.Arg1749His) rs531935195
NM_003494.3(DYSF):c.5272C>G (p.Gln1758Glu) rs370866476
NM_003494.3(DYSF):c.5291A>G (p.His1764Arg)
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.5364C>A (p.Asp1788Glu) rs794727690
NM_003494.3(DYSF):c.5366T>C (p.Leu1789Pro) rs727503914
NM_003494.3(DYSF):c.536G>A (p.Gly179Asp) rs768820090
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.5387G>A (p.Arg1796Gln) rs762675721
NM_003494.3(DYSF):c.5411C>T (p.Thr1804Ile) rs886056283
NM_003494.3(DYSF):c.5423C>T (p.Ala1808Val) rs1436866611
NM_003494.3(DYSF):c.5440C>T (p.Arg1814Cys) rs1280185461
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.544G>T (p.Ala182Ser)
NM_003494.3(DYSF):c.5477A>G (p.Asp1826Gly) rs773950181
NM_003494.3(DYSF):c.5492C>T (p.Thr1831Met) rs199649417
NM_003494.3(DYSF):c.5508C>T (p.Ser1836=) rs577921112
NM_003494.3(DYSF):c.5526-12A>G rs375507062
NM_003494.3(DYSF):c.5564A>T (p.Asp1855Val) rs1553416071
NM_003494.3(DYSF):c.557C>T (p.Pro186Leu) rs752497222
NM_003494.3(DYSF):c.5594G>C (p.Gly1865Ala) rs1024524968
NM_003494.3(DYSF):c.5603A>G (p.Asn1868Ser)
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.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.5651G>T (p.Cys1884Phe) rs886044130
NM_003494.3(DYSF):c.5668-8C>T rs201191038
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.5791C>T (p.Arg1931Cys) rs144116735
NM_003494.3(DYSF):c.581C>T (p.Pro194Leu) rs201980470
NM_003494.3(DYSF):c.5822A>T (p.Lys1941Met) rs536703008
NM_003494.3(DYSF):c.5918C>T (p.Ala1973Val) rs201784424
NM_003494.3(DYSF):c.5946G>A (p.Ala1982=) rs138936064
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.5969A>G (p.Glu1990Gly) rs773799968
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.6038C>G (p.Pro2013Arg) rs886044643
NM_003494.3(DYSF):c.6056+4A>C rs749127704
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.6058C>T (p.Arg2020Cys) rs370286628
NM_003494.3(DYSF):c.6105G>A (p.Met2035Ile) rs557683788
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.6130C>T (p.Arg2044Trp) rs185617318
NM_003494.3(DYSF):c.6139A>G (p.Ile2047Val) rs150834671
NM_003494.3(DYSF):c.6154_6156delATC (p.Ile2052del) rs1553422765
NM_003494.3(DYSF):c.6154_6165del12 (p.Ile2052_Ile2055del) rs749619435
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.6196G>A (p.Ala2066Thr) rs746663568
NM_003494.3(DYSF):c.6203C>T (p.Pro2068Leu) rs149732545
NM_003494.3(DYSF):c.6212delC (p.Ala2071Valfs) rs886042991
NM_003494.3(DYSF):c.622A>G (p.Thr208Ala) rs150029218
NM_003494.3(DYSF):c.6241T>G (p.Ter2081Gly) rs1327953255
NM_003494.3(DYSF):c.626C>T (p.Ser209Phe) rs754343148
NM_003494.3(DYSF):c.663+10G>A rs200198865
NM_003494.3(DYSF):c.664-7_664-6delCTinsATCC rs1553521641
NM_003494.3(DYSF):c.664-8G>C rs748159785
NM_003494.3(DYSF):c.676G>A (p.Val226Met) rs150345121
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.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.788A>G (p.Asn263Ser) rs777785781
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.851T>C (p.Ile284Thr) rs1553522164
NM_003494.3(DYSF):c.854C>T (p.Thr285Met) rs372952394
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.896G>A (p.Gly299Glu) rs1258728780
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+4A>T rs1397221551
NM_003494.3(DYSF):c.945C>A (p.Ala315=) rs1553525671
NM_003494.3(DYSF):c.967C>T (p.Leu323Phe) rs886044387
NM_003494.3:c.2317delG

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.