ClinVar Miner

List of variants in gene DYSF studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1166
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3928-85G>T rs1529408 0.96005
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001130987.2(DYSF):c.4528-56A>G rs84181 0.85683
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_001130987.2(DYSF):c.1034-68T>C rs12713755 0.81086
NM_001130987.2(DYSF):c.1003-73A>G rs11675897 0.81016
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_001130987.2(DYSF):c.1985-116T>C rs2303597 0.72705
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1033+94G>T rs11687223 0.68496
NM_001130987.2(DYSF):c.1450-88A>G rs4852802 0.67986
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.3403-121G>C rs3811611 0.59433
NM_001130987.2(DYSF):c.2979+112A>C rs10183967 0.57695
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_003494.4(DYSF):c.88+12589T>C rs58981291 0.17695
NM_001130987.2(DYSF):c.-30G>A rs61333801 0.17633
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.2864+84G>C rs62143855 0.14839
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001130987.2(DYSF):c.1494-163G>T rs79617374 0.13069
NM_001130987.2(DYSF):c.1034-64C>T rs55695728 0.12659
NM_001130987.2(DYSF):c.4221+96C>T rs2016605 0.12613
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001130987.2(DYSF):c.889-104G>A rs13417592 0.09831
NM_001130987.2(DYSF):c.148-91C>T rs35628632 0.09296
NM_001130987.2(DYSF):c.1149+54C>T rs56343439 0.09198
NM_001130987.2(DYSF):c.4221+119A>G rs1814333 0.08837
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.889-68G>A rs28500662 0.03261
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001130987.2(DYSF):c.460+82C>T rs79084610 0.03125
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001130987.2(DYSF):c.2410-117A>G rs72827550 0.02151
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001130987.2(DYSF):c.889-34C>T rs115184725 0.01903
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_001130987.2(DYSF):c.3228+208A>C rs143560409 0.00838
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001130987.2(DYSF):c.3228+205C>A rs149264392 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635 0.00054
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.*78C>T rs367543759 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.*75C>T rs374833260 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) rs745746091 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396 0.00018
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301 0.00017
NM_001130987.2(DYSF):c.*142G>A rs774156078 0.00016
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=) rs551942312 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) rs185891286 0.00013
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) rs1358370392 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe) rs367901920 0.00012
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) rs201834175 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) rs371609233 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) rs144422408 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 0.00009
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411 0.00009
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00008
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) rs771062534 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750 0.00008
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) rs147876220 0.00008
NM_001130987.2(DYSF):c.*179G>A rs886056284 0.00007
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) rs753176482 0.00007
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) rs200422222 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys) rs148171293 0.00006
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) rs781758050 0.00006
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) rs372573603 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756 0.00006
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn) rs765027886 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236 0.00006
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886 0.00006
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) rs142265349 0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424 0.00006
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) rs755046419 0.00005
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768 0.00005
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258 0.00004
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) rs574076669 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) rs535367520 0.00004
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236 0.00004
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) rs757240900 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 0.00004
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) rs776921154 0.00004
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1577-1646C>T rs763227235 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) rs749488054 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) rs377196032 0.00003
NM_001130987.2(DYSF):c.240-7C>T rs746083673 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln) rs763925689 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu) rs767190885 0.00003
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136 0.00003
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) rs758688467 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) rs371231895 0.00003
NM_001130987.2(DYSF):c.4755+10C>T rs139099979 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) rs758206608 0.00003
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) rs763604611 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs) rs779969348 0.00002
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) rs1268717670 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) rs767805308 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2216+6G>C rs747059895 0.00002
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261 0.00002
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) rs759015457 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) rs199543257 0.00002
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) rs766900434 0.00002
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) rs766204227 0.00002
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) rs556134001 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658 0.00002
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=) rs555086420 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) rs748528655 0.00002
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) rs762447573 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788 0.00001
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280 0.00001
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870 0.00001
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) rs761279290 0.00001
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu) rs139258703 0.00001
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 0.00001
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr) rs749866053 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.1985-1G>T rs2091139939 0.00001
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter) rs756258757 0.00001
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) rs762651388 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) rs754179180 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) rs146153109 0.00001
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) rs750999022 0.00001
NM_001130987.2(DYSF):c.2698-2A>G rs1420930684 0.00001
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710 0.00001
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775 0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582 0.00001
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) rs755791637 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3228+8A>C rs749135257 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) rs770648429 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser) rs916964397 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00001
NM_001130987.2(DYSF):c.4221+10A>G rs1448201474 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) rs151109021 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) rs758226677 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val) rs767309227 0.00001
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) rs779344280 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) rs775026383 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) rs2094956948 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) rs1573061003 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) rs533781748 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) rs768704227 0.00001
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) rs1486691301 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr) rs191052325 0.00001
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) rs777543798 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) rs1189744662 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) rs1308247360 0.00001
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00001
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) rs561011151 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.6322-7C>T rs749806665 0.00001
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) rs185711021 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00001
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro) rs398123808 0.00001
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) rs1375948337 0.00001
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) rs1386290894 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) rs1057524492 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.1002+1G>A
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1003-1G>A
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1110_1117dup (p.Leu373fs)
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1150-2A>G
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1264_1276+1dup
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg) rs767800266
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter) rs2152751290
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
NM_001130987.2(DYSF):c.1450-1G>A
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.147+1G>A rs2082833010
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.148-2A>G
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1493+1G>T
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-1G>C
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
NM_001130987.2(DYSF):c.1577-25T>C rs769185336
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1625del (p.Asn542fs) rs2152786967
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
NM_001130987.2(DYSF):c.1692+1G>C
NM_001130987.2(DYSF):c.1709_1722del (p.Tyr570fs)
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=) rs2090960824
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) rs546679270
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1806+1G>T
NM_001130987.2(DYSF):c.1806+2T>A
NM_001130987.2(DYSF):c.1807-2A>G
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr) rs886043196
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) rs121908960
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
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.1965C>A (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1984+1G>A
NM_001130987.2(DYSF):c.1984+2T>A
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
NM_001130987.2(DYSF):c.2002del (p.Leu668fs)
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2110-1G>A
NM_001130987.2(DYSF):c.2203del (p.Ile735fs)
NM_001130987.2(DYSF):c.2217-1G>A
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.221del (p.Glu74fs)
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
NM_001130987.2(DYSF):c.2258_2259del (p.His753fs)
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
NM_001130987.2(DYSF):c.231G>A (p.Gly77=) rs1553508988
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.240-2del
NM_001130987.2(DYSF):c.2413del (p.Gln805fs)
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) rs1574016452
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter) rs780129376
NM_001130987.2(DYSF):c.2628del (p.Phe876fs)
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)
NM_001130987.2(DYSF):c.2697+1G>C rs140108514
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2713A>T (p.Lys905Ter)
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
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.280_300dup (p.Ala94_Ala100dup) rs1172863089
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.2864+1G>C
NM_001130987.2(DYSF):c.2864+1dup
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
NM_001130987.2(DYSF):c.2891del (p.His964fs)
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
NM_001130987.2(DYSF):c.2955dup (p.Met986fs) rs2152814060
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.2964del (p.Asp988fs)
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) rs2152814096
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3019C>A (p.Pro1007Thr)
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly)
NM_001130987.2(DYSF):c.3082C>T (p.Gln1028Ter)
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3086-11_3105dup
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.3107dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs) rs753711667
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile) rs2092366716
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs)
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3169_3172dup (p.Arg1058fs)
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.3180G>A (p.Trp1060Ter)
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
NM_001130987.2(DYSF):c.3228+2T>C
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4]) rs398123779
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs) rs1574097294
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) rs1553361783
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3332_3353dup (p.Glu1120fs)
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser)
NM_001130987.2(DYSF):c.3341G>T (p.Arg1114Leu)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs) rs2093189899
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3497-33A>G rs786205083
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3575-1G>C
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3620_3621del (p.Val1207fs)
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del) rs1173583014
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
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.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3756+6T>A
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) rs1553381945
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter) rs147950418
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
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.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) rs866823474
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) rs775254512
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) rs765090357
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) rs139654844
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser) rs757346544
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
NM_001130987.2(DYSF):c.4385dup (p.Asp1463fs)
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs) rs1553389065
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs) rs1553389118
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.4528-5C>G rs774448845
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.461-1G>A rs1553520795
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs) rs886042578
NM_001130987.2(DYSF):c.4626+10C>T rs1420815050
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) rs2094765878
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp) rs2094766394
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4683dup (p.Asn1562Ter)
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del) rs1553501109
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) rs751126464
NM_001130987.2(DYSF):c.4755+1G>A
NM_001130987.2(DYSF):c.4755+5A>C rs2094768502
NM_001130987.2(DYSF):c.4756-1G>A rs2152940909
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs)
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs) rs2152940961
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) rs768130248
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.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
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.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer) rs2152950672
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del) rs1163037004
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
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.5156_5174+4dup rs786205082
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.5175-1G>A
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe) rs575920691
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) rs121908961
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) rs1573078295
NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg)
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) rs753644501
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) rs2095035479
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5458-2A>G
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) rs1558783870
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.5546+2T>A rs1553415233
NM_001130987.2(DYSF):c.5546+7T>C rs1573092033
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter) rs2152955939
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) rs886043339
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) rs768704227
NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp) rs931174858
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) rs2152956005
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642+2T>A
NM_001130987.2(DYSF):c.5642+3A>G
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.5642_5642+12del
NM_001130987.2(DYSF):c.5643-15A>G
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5680_5681del (p.Asp1894fs)
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs)
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) rs1573138336
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser) rs775578484
NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys)
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.5975del (p.Pro1992fs)
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
NM_001130987.2(DYSF):c.6020G>A (p.Trp2007Ter)
NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)
NM_001130987.2(DYSF):c.6024G>C (p.Trp2008Cys)
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs) rs2152967906
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) rs1395588065
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs) rs1397263011
NM_001130987.2(DYSF):c.6173+1G>A
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) rs1553422723
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del) rs1553422765
NM_001130987.2(DYSF):c.6321+1G>C
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) rs1442725303
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) rs768820090
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) rs759455142
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) rs373585652
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.760-2A>G
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867
NM_001130987.2(DYSF):c.855del (p.Ile286fs)
NM_001130987.2(DYSF):c.859del (p.His287fs)
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) rs1559053603
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.907_910del (p.Phe303fs)
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.923del (p.Glu308fs) rs2086635842
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.947del (p.Ile316fs)
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.951+2T>C
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_001130987.2(DYSF):c.952-3C>G
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) rs1314586455
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) rs539484245
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1522+1G>A rs1473130799
NM_003494.4(DYSF):c.1642del rs398123772
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.4(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
NM_003494.4(DYSF):c.60_61dup (p.Asp21fs)
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222
NM_003494.4(DYSF):c.88+1G>A
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
Single allele

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.