ClinVar Miner

List of variants studied for Qualitative or quantitative defects of dysferlin by Invitae

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ClinVar version:
Total variants: 3176
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
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.240-6653G>A rs10166384 0.61548
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
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.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_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
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.760-17C>T rs61104194 0.11792
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
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.460+17G>C rs115170960 0.03446
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
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.4122C>T (p.Ser1374=) rs2303607 0.02075
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.2216+16C>T rs111389127 0.01060
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
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.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.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
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.1288G>A (p.Val430Met) rs144202114 0.00373
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
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.3496+14C>T rs112034381 0.00297
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001130987.2(DYSF):c.3575-12C>T rs200680233 0.00190
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432 0.00168
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288 0.00161
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.346-17C>T rs370498369 0.00092
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.3756+9G>T rs191746041 0.00081
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.2484C>T (p.Pro828=) rs143667543 0.00073
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.1150-20G>A rs186036570 0.00070
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.2698-11T>C rs368482435 0.00041
NM_001130987.2(DYSF):c.5318-14T>A rs373692062 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.3086-9C>T rs185350547 0.00036
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.4792G>A (p.Ala1598Thr) rs146213322 0.00030
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
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.4050C>T (p.Thr1350=) rs138751942 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.5458-17G>A rs147638721 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.316C>T (p.Leu106=) rs374934430 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.1450-15C>T rs376442287 0.00018
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.4474G>A (p.Gly1492Ser) rs766512164 0.00018
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=) rs149989207 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.1364G>C (p.Ser455Thr) rs371593605 0.00016
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047 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.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00015
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077 0.00015
NM_001130987.2(DYSF):c.460+13C>T rs913978542 0.00015
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.2593C>T (p.Arg865Trp) rs200487610 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.1002+18A>G rs112286757 0.00011
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.409C>T (p.Pro137Ser) rs761301098 0.00011
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met) rs760627822 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.1276+14G>A rs368724695 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.747G>A (p.Pro249=) rs751402861 0.00010
NM_001130987.2(DYSF):c.92-3T>C rs367833503 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1065C>G (p.Leu355=) rs143370670 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1632T>C (p.Tyr544=) rs1296743118 0.00009
NM_001130987.2(DYSF):c.1692+13G>C rs368874059 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.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.3086-19C>A rs199596218 0.00009
NM_001130987.2(DYSF):c.3229-6G>C rs201993768 0.00009
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=) rs201477760 0.00009
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser) rs753922932 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 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.4831G>A (p.Ala1611Thr) rs143163327 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.1985-16C>T rs377533029 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.4059+11C>T rs759874787 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.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.239+15G>C rs376711978 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3366G>A (p.Thr1122=) rs149986783 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.3579C>T (p.Pro1193=) rs1340277369 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.1329C>A (p.Asn443Lys) rs143355224 0.00006
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.2860A>G (p.Lys954Glu) rs1038837599 0.00006
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 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.3614A>G (p.Lys1205Arg) rs757123788 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.4830C>T (p.Ala1610=) rs375485030 0.00006
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236 0.00006
NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr) rs866367366 0.00006
NM_001130987.2(DYSF):c.5448C>T (p.Asp1816=) rs760654351 0.00006
NM_001130987.2(DYSF):c.5522A>G (p.Asn1841Ser) rs372204057 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.1737G>A (p.Glu579=) rs370872013 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.2427G>A (p.Pro809=) rs139422989 0.00005
NM_001130987.2(DYSF):c.2679G>C (p.Leu893=) rs907000231 0.00005
NM_001130987.2(DYSF):c.2973C>T (p.Thr991=) rs373937234 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.3476C>T (p.Thr1159Met) rs140058659 0.00005
NM_001130987.2(DYSF):c.3496+15G>A rs200173633 0.00005
NM_001130987.2(DYSF):c.3717G>A (p.Pro1239=) rs150444588 0.00005
NM_001130987.2(DYSF):c.3939A>G (p.Thr1313=) rs763332737 0.00005
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 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.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.6234G>A (p.Leu2078=) rs376588911 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys) rs201550600 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.1320C>T (p.Phe440=) rs779669549 0.00004
NM_001130987.2(DYSF):c.1458C>T (p.Ser486=) rs200803090 0.00004
NM_001130987.2(DYSF):c.1476G>A (p.Arg492=) rs768604446 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.1965C>T (p.Tyr655=) rs759841019 0.00004
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys) rs752848496 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.2101G>A (p.Asp701Asn) rs998827835 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2166C>T (p.Asp722=) rs766639423 0.00004
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=) rs145868833 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2316T>C (p.Ala772=) rs141314294 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.3000C>A (p.Pro1000=) rs368460619 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.3126G>A (p.Pro1042=) rs377235191 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3171G>A (p.Arg1057=) rs200311551 0.00004
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln) rs372226487 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.3240G>A (p.Ala1080=) rs759829047 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.345+12T>G rs769394497 0.00004
NM_001130987.2(DYSF):c.3460G>A (p.Gly1154Ser) rs554800123 0.00004
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=) rs139364929 0.00004
NM_001130987.2(DYSF):c.3757-11G>A rs375151143 0.00004
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.3870C>T (p.Ala1290=) rs778341042 0.00004
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) rs535831045 0.00004
NM_001130987.2(DYSF):c.397C>T (p.Leu133=) rs886043009 0.00004
NM_001130987.2(DYSF):c.4059+7C>T rs562567295 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.4586A>T (p.Lys1529Met) rs527574888 0.00004
NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=) rs778185705 0.00004
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.5184G>A (p.Pro1728=) rs750640522 0.00004
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) rs757240900 0.00004
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=) rs748704263 0.00004
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=) rs727503913 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001130987.2(DYSF):c.5884+7G>A rs578068243 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.6342G>A (p.Leu2114=) rs766435391 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.906G>A (p.Leu302=) rs916319528 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.1053G>A (p.Lys351=) rs778686949 0.00003
NM_001130987.2(DYSF):c.1146G>A (p.Ala382=) rs749288662 0.00003
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 0.00003
NM_001130987.2(DYSF):c.1299C>T (p.Asn433=) rs757047049 0.00003
NM_001130987.2(DYSF):c.1321G>A (p.Glu441Lys) rs886043461 0.00003
NM_001130987.2(DYSF):c.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.1450-20C>T rs762342962 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.1749G>A (p.Val583=) rs758674748 0.00003
NM_001130987.2(DYSF):c.1752G>A (p.Glu584=) rs778125491 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.2216+6G>C rs747059895 0.00003
NM_001130987.2(DYSF):c.239+17G>C rs757432005 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.269G>A (p.Arg90Gln) rs370745710 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.3165C>T (p.His1055=) rs745672090 0.00003
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln) rs149617331 0.00003
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00003
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser) rs200334333 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.3538C>T (p.Arg1180Trp) rs759297236 0.00003
NM_001130987.2(DYSF):c.3575-11G>A rs370058694 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.4038G>A (p.Ala1346=) rs751571463 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.4242C>T (p.Leu1414=) rs952978128 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.4388-8C>T rs746630105 0.00003
NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=) rs374705038 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.5003+8G>T rs954327151 0.00003
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=) rs375326769 0.00003
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) rs758206608 0.00003
NM_001130987.2(DYSF):c.5207G>A (p.Arg1736His) rs777701226 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.5558G>A (p.Arg1853His) rs372895279 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.5682C>T (p.Asp1894=) rs780040380 0.00003
NM_001130987.2(DYSF):c.5946C>G (p.Ser1982=) rs140341988 0.00003
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=) rs775417000 0.00003
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn) rs1261660052 0.00003
NM_001130987.2(DYSF):c.6276C>T (p.Leu2092=) rs1412512408 0.00003
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 0.00003
NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro) rs148739795 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001130987.2(DYSF):c.790C>T (p.Leu264=) rs374682091 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001130987.2(DYSF):c.828C>T (p.Thr276=) rs376154300 0.00003
NM_001130987.2(DYSF):c.889-6C>T rs370223980 0.00003
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 0.00003
NM_001130987.2(DYSF):c.1000C>T (p.Arg334Trp) rs184771575 0.00002
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) rs763604611 0.00002
NM_001130987.2(DYSF):c.1077T>C (p.Asp359=) rs761584106 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1149+4A>G rs761302882 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) rs1268717670 0.00002
NM_001130987.2(DYSF):c.1380+20G>A rs889139495 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.1577-7C>T rs767566865 0.00002
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=) rs180970066 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.1806+10G>A rs757667944 0.00002
NM_001130987.2(DYSF):c.1806+7G>A rs758951311 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.2070C>T (p.Ile690=) rs746480529 0.00002
NM_001130987.2(DYSF):c.2134C>T (p.Leu712=) rs985675157 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 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.247G>A (p.Gly83Arg) rs780227798 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.254C>T (p.Ala85Val) rs772008300 0.00002
NM_001130987.2(DYSF):c.2571G>A (p.Pro857=) rs200494473 0.00002
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His) rs768637531 0.00002
NM_001130987.2(DYSF):c.2772C>T (p.Asp924=) rs772806555 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.2847C>T (p.Phe949=) rs146006518 0.00002
NM_001130987.2(DYSF):c.2864+7C>T rs770354145 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.2979+16_2979+17del rs761855675 0.00002
NM_001130987.2(DYSF):c.3024G>A (p.Leu1008=) rs1553555439 0.00002
NM_001130987.2(DYSF):c.3053C>T (p.Ser1018Phe) rs748720895 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3141T>G (p.Pro1047=) rs780246050 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.3229-18G>A rs1365278928 0.00002
NM_001130987.2(DYSF):c.3246G>A (p.Ala1082=) rs764414374 0.00002
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=) rs945602962 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3356T>A (p.Leu1119Gln) rs776495155 0.00002
NM_001130987.2(DYSF):c.3402+19G>A rs1026555167 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.3434C>A (p.Ser1145Tyr) rs755517171 0.00002
NM_001130987.2(DYSF):c.3441C>T (p.Ser1147=) rs779624098 0.00002
NM_001130987.2(DYSF):c.3497-20T>C rs1394263273 0.00002
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys) rs372297758 0.00002
NM_001130987.2(DYSF):c.358C>T (p.Leu120=) rs892412351 0.00002
NM_001130987.2(DYSF):c.3690C>T (p.Gly1230=) rs766754391 0.00002
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly) rs750397218 0.00002
NM_001130987.2(DYSF):c.3757-17C>T rs757864395 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.3928-8T>C rs765774189 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.4260C>T (p.Thr1420=) rs547886773 0.00002
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys) rs749028996 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4322G>A (p.Arg1441His) rs753156321 0.00002
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4528-6A>G rs775423013 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4755+19C>G rs368894620 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.4896G>T (p.Lys1632Asn) rs1453872151 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val) rs762970438 0.00002
NM_001130987.2(DYSF):c.5175-6C>T rs1258841250 0.00002
NM_001130987.2(DYSF):c.5175-7T>C rs764665728 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.5298A>G (p.Glu1766=) rs769272706 0.00002
NM_001130987.2(DYSF):c.5452G>A (p.Glu1818Lys) rs764947245 0.00002
NM_001130987.2(DYSF):c.5546+11C>T rs772485165 0.00002
NM_001130987.2(DYSF):c.5642+14G>A rs377398673 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.5784+9C>A rs753986968 0.00002
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001130987.2(DYSF):c.5906A>C (p.Asn1969Thr) rs775578484 0.00002
NM_001130987.2(DYSF):c.6058C>T (p.Leu2020=) rs760685520 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6174-12T>G rs760257417 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.671G>A (p.Arg224His) rs373032113 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn) rs529238728 0.00002
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00002
NM_001130987.2(DYSF):c.774G>A (p.Val258=) rs201797348 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.798G>A (p.Gly266=) rs138466537 0.00002
NM_001130987.2(DYSF):c.846G>A (p.Lys282=) rs1176128443 0.00002
NM_001130987.2(DYSF):c.1003-10T>C rs752397079 0.00001
NM_001130987.2(DYSF):c.1003-11A>G rs975482363 0.00001
NM_001130987.2(DYSF):c.1003-17C>T rs372843257 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1060C>T (p.Leu354=) rs369378511 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1067C>T (p.Ser356Leu) rs1289536335 0.00001
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=) rs886044211 0.00001
NM_001130987.2(DYSF):c.1116C>T (p.Ser372=) rs766891289 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.114C>T (p.Val38=) rs963586500 0.00001
NM_001130987.2(DYSF):c.1155G>A (p.Glu385=) rs1400006082 0.00001
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=) rs886042490 0.00001
NM_001130987.2(DYSF):c.1183G>A (p.Asp395Asn) rs1333857093 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.121A>T (p.Asn41Tyr) rs911341473 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.1248G>C (p.Lys416Asn) rs745409058 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1269G>A (p.Leu423=) rs774859639 0.00001
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266 0.00001
NM_001130987.2(DYSF):c.1272G>A (p.Pro424=) rs544769503 0.00001
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651 0.00001
NM_001130987.2(DYSF):c.1276+10G>A rs994622254 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.1276+9G>C rs897697260 0.00001
NM_001130987.2(DYSF):c.1277-4C>G rs760860539 0.00001
NM_001130987.2(DYSF):c.1282G>A (p.Asp428Asn) rs762842080 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1347C>T (p.Asp449=) rs1044542269 0.00001
NM_001130987.2(DYSF):c.135T>C (p.Pro45=) rs886043852 0.00001
NM_001130987.2(DYSF):c.1381-20C>T rs776806053 0.00001
NM_001130987.2(DYSF):c.1449+11T>C rs548993658 0.00001
NM_001130987.2(DYSF):c.1480C>T (p.Arg494Cys) rs1192937487 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1494-4C>G rs377488411 0.00001
NM_001130987.2(DYSF):c.1494G>A (p.Trp498Ter) rs141400095 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 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.1545G>A (p.Ser515=) rs755103680 0.00001
NM_001130987.2(DYSF):c.1576+16G>A rs577128387 0.00001
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00001
NM_001130987.2(DYSF):c.1576+7T>A rs200990459 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1577-1663G>A rs760021808 0.00001
NM_001130987.2(DYSF):c.1577-1698G>A rs754787004 0.00001
NM_001130987.2(DYSF):c.1577-4C>T rs1206902174 0.00001
NM_001130987.2(DYSF):c.1599C>G (p.Leu533=) rs765133641 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.1646A>G (p.Glu549Gly) rs1042441672 0.00001
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser) rs780677692 0.00001
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr) rs749866053 0.00001
NM_001130987.2(DYSF):c.1674A>G (p.Thr558=) rs147101870 0.00001
NM_001130987.2(DYSF):c.1686A>G (p.Thr562=) rs1178474903 0.00001
NM_001130987.2(DYSF):c.1692+7C>T rs775395972 0.00001
NM_001130987.2(DYSF):c.1692+8G>A rs549810799 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1693-9C>T rs1447501012 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1820G>A (p.Arg607Lys) rs776487688 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1857C>A (p.Ala619=) rs2091067615 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1896G>A (p.Glu632=) rs1360936643 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.191C>T (p.Ser64Phe) rs1224444546 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.1930A>G (p.Met644Val) rs773859302 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.1984+9G>A rs1375749923 0.00001
NM_001130987.2(DYSF):c.1985-1G>T rs2091139939 0.00001
NM_001130987.2(DYSF):c.2040A>G (p.Ser680=) rs1285165000 0.00001
NM_001130987.2(DYSF):c.2076T>A (p.Thr692=) rs907221996 0.00001
NM_001130987.2(DYSF):c.2086C>T (p.Leu696=) rs781763520 0.00001
NM_001130987.2(DYSF):c.2110-11C>G rs780520305 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.216C>T (p.Asp72=) rs1397538150 0.00001
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=) rs373820597 0.00001
NM_001130987.2(DYSF):c.2193G>A (p.Thr731=) rs754423332 0.00001
NM_001130987.2(DYSF):c.2202C>T (p.Leu734=) rs1304800163 0.00001
NM_001130987.2(DYSF):c.2206G>A (p.Ala736Thr) rs1042263359 0.00001
NM_001130987.2(DYSF):c.2217-12C>T rs201786433 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.2337C>T (p.Gly779=) rs1266538564 0.00001
NM_001130987.2(DYSF):c.2382C>T (p.Leu794=) rs376262937 0.00001
NM_001130987.2(DYSF):c.239+8G>A rs980565746 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=) rs762226707 0.00001
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu) rs121908956 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.2487C>T (p.Ala829=) rs1199331931 0.00001
NM_001130987.2(DYSF):c.2507G>A (p.Arg836Gln) rs754431230 0.00001
NM_001130987.2(DYSF):c.2544G>A (p.Lys848=) rs776934303 0.00001
NM_001130987.2(DYSF):c.2566-10T>C rs1312909300 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.2657A>G (p.Asn886Ser) rs559305759 0.00001
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) rs750999022 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.2716T>C (p.Leu906=) rs2092223294 0.00001
NM_001130987.2(DYSF):c.2747G>A (p.Gly916Asp) rs749094860 0.00001
NM_001130987.2(DYSF):c.2754C>T (p.Thr918=) rs2092225592 0.00001
NM_001130987.2(DYSF):c.2757C>T (p.Tyr919=) rs200439327 0.00001
NM_001130987.2(DYSF):c.2809C>T (p.Arg937Cys) rs755270902 0.00001
NM_001130987.2(DYSF):c.2864+10G>A rs1338085640 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.2886C>T (p.Ala962=) rs776035565 0.00001
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=) rs767589708 0.00001
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776 0.00001
NM_001130987.2(DYSF):c.2946G>A (p.Gln982=) rs770460209 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.2980-14G>A rs374508907 0.00001
NM_001130987.2(DYSF):c.2994G>A (p.Val998=) rs921273781 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3011T>C (p.Ile1004Thr) rs1257868987 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.3060C>T (p.Asp1020=) rs779224176 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3069G>A (p.Arg1023=) rs771258366 0.00001
NM_001130987.2(DYSF):c.3075C>T (p.Val1025=) rs776969552 0.00001
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384 0.00001
NM_001130987.2(DYSF):c.3086-3C>A rs781636911 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.3138C>G (p.Val1046=) rs756490689 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr) rs776491058 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.3229-4G>A rs778918599 0.00001
NM_001130987.2(DYSF):c.3231C>T (p.His1077=) rs772568748 0.00001
NM_001130987.2(DYSF):c.3268G>A (p.Ala1090Thr) rs34660230 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3318C>G (p.Ala1106=) rs753777255 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3338G>A (p.Arg1113His) rs917688073 0.00001
NM_001130987.2(DYSF):c.3365C>T (p.Thr1122Met) rs1000486931 0.00001
NM_001130987.2(DYSF):c.3368G>A (p.Gly1123Glu) rs148489131 0.00001
NM_001130987.2(DYSF):c.3387C>G (p.Ala1129=) rs773406325 0.00001
NM_001130987.2(DYSF):c.3403-5T>C rs748560095 0.00001
NM_001130987.2(DYSF):c.3403-8G>C rs779448304 0.00001
NM_001130987.2(DYSF):c.3405C>T (p.Gly1135=) rs367845844 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.345+8C>T rs780906230 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 0.00001
NM_001130987.2(DYSF):c.346-16G>A rs576372858 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001130987.2(DYSF):c.3492C>T (p.Phe1164=) rs377407750 0.00001
NM_001130987.2(DYSF):c.3496+1G>A rs1486303961 0.00001
NM_001130987.2(DYSF):c.3497-13T>C rs759062827 0.00001
NM_001130987.2(DYSF):c.351G>A (p.Ser117=) rs559097090 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.3544C>T (p.Leu1182=) rs1414071240 0.00001
NM_001130987.2(DYSF):c.354G>T (p.Leu118=) rs1440131340 0.00001
NM_001130987.2(DYSF):c.3550G>T (p.Ala1184Ser) rs369341163 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3633C>T (p.Asn1211=) rs745656518 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3660G>A (p.Thr1220=) rs139897804 0.00001
NM_001130987.2(DYSF):c.3663C>T (p.Leu1221=) rs748966868 0.00001
NM_001130987.2(DYSF):c.3669C>T (p.Phe1223=) rs1352496725 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3680A>T (p.Glu1227Val) rs760974476 0.00001
NM_001130987.2(DYSF):c.3702A>G (p.Thr1234=) rs2093465610 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=) rs1553375366 0.00001
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=) rs375160101 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3757-10C>T rs907822658 0.00001
NM_001130987.2(DYSF):c.3766G>A (p.Glu1256Lys) rs1291667876 0.00001
NM_001130987.2(DYSF):c.3788G>A (p.Cys1263Tyr) rs1417696397 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3795G>A (p.Pro1265=) rs922788254 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3807G>T (p.Arg1269=) rs553948190 0.00001
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter) rs1553376538 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.3883A>C (p.Ile1295Leu) rs555343068 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.3906C>A (p.Ile1302=) rs754355332 0.00001
NM_001130987.2(DYSF):c.3909C>T (p.His1303=) rs765904804 0.00001
NM_001130987.2(DYSF):c.3928-12G>C rs1322835903 0.00001
NM_001130987.2(DYSF):c.3928-15A>C rs370454686 0.00001
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) rs1324430830 0.00001
NM_001130987.2(DYSF):c.3981C>T (p.Tyr1327=) rs745549938 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.4033C>T (p.Pro1345Ser) rs1253155257 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4059+8G>A rs770831705 0.00001
NM_001130987.2(DYSF):c.4060-5C>T rs754635537 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.4146G>A (p.Gln1382=) rs1456392109 0.00001
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 0.00001
NM_001130987.2(DYSF):c.4150G>T (p.Val1384Leu) rs1404000468 0.00001
NM_001130987.2(DYSF):c.4155G>A (p.Gln1385=) rs781656007 0.00001
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp) rs368601323 0.00001
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702 0.00001
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283 0.00001
NM_001130987.2(DYSF):c.4221+10A>G rs1448201474 0.00001
NM_001130987.2(DYSF):c.4221+11C>T rs1306793523 0.00001
NM_001130987.2(DYSF):c.4221+7C>T rs765049772 0.00001
NM_001130987.2(DYSF):c.4222-8C>T rs772066982 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.4302G>C (p.Val1434=) rs560018212 0.00001
NM_001130987.2(DYSF):c.4329G>C (p.Leu1443=) rs1290365271 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4350C>G (p.Pro1450=) rs897596810 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.435T>G (p.Thr145=) rs1305158929 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.4458C>G (p.Pro1486=) rs777688424 0.00001
NM_001130987.2(DYSF):c.445C>T (p.Leu149=) rs1339045360 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4464+18C>T rs1346300032 0.00001
NM_001130987.2(DYSF):c.4464+8G>A rs745311207 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.458C>T (p.Ala153Val) rs764206720 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.460+9C>A rs1052225757 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4637C>T (p.Thr1546Ile) rs781670260 0.00001
NM_001130987.2(DYSF):c.4644G>A (p.Leu1548=) rs750871731 0.00001
NM_001130987.2(DYSF):c.4671G>A (p.Leu1557=) rs749333686 0.00001
NM_001130987.2(DYSF):c.4696C>T (p.Leu1566=) rs1227092922 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.4734A>G (p.Pro1578=) rs1168024300 0.00001
NM_001130987.2(DYSF):c.4755+8C>T rs1278005040 0.00001
NM_001130987.2(DYSF):c.4797C>T (p.Ile1599=) rs551195286 0.00001
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=) rs774070544 0.00001
NM_001130987.2(DYSF):c.4842C>T (p.Pro1614=) rs766968114 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.4889A>G (p.Gln1630Arg) rs754829594 0.00001
NM_001130987.2(DYSF):c.4911+1G>T rs777216777 0.00001
NM_001130987.2(DYSF):c.4917T>C (p.Asp1639=) rs780604882 0.00001
NM_001130987.2(DYSF):c.4923C>T (p.Tyr1641=) rs376679461 0.00001
NM_001130987.2(DYSF):c.4992C>T (p.Pro1664=) rs369004367 0.00001
NM_001130987.2(DYSF):c.5028G>A (p.Leu1676=) rs368302435 0.00001
NM_001130987.2(DYSF):c.5037G>A (p.Glu1679=) rs1383288665 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.5063A>G (p.Asp1688Gly) rs1449452722 0.00001
NM_001130987.2(DYSF):c.5069A>T (p.Asp1690Val) rs776897492 0.00001
NM_001130987.2(DYSF):c.5070C>T (p.Asp1690=) rs1382607412 0.00001
NM_001130987.2(DYSF):c.5097T>A (p.Gly1699=) rs779293276 0.00001
NM_001130987.2(DYSF):c.5103G>A (p.Thr1701=) rs758713393 0.00001
NM_001130987.2(DYSF):c.5106C>T (p.Val1702=) rs778238756 0.00001
NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile) rs747210644 0.00001
NM_001130987.2(DYSF):c.5109C>T (p.Val1703=) rs771336218 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5154A>G (p.Gly1718=) rs1210820177 0.00001
NM_001130987.2(DYSF):c.5174+4C>G rs781575037 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.5208C>T (p.Arg1736=) rs752860060 0.00001
NM_001130987.2(DYSF):c.5211C>G (p.Pro1737=) rs1442864455 0.00001
NM_001130987.2(DYSF):c.5226C>T (p.His1742=) rs997793741 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.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln) rs762398889 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5318-7G>C rs760909506 0.00001
NM_001130987.2(DYSF):c.5318-8T>C rs773795577 0.00001
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=) rs140812535 0.00001
NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=) rs771738959 0.00001
NM_001130987.2(DYSF):c.5409C>T (p.His1803=) rs375787986 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.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.5433C>T (p.Ser1811=) rs200879908 0.00001
NM_001130987.2(DYSF):c.5454G>A (p.Glu1818=) rs2095036831 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5458-2A>C rs398123792 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu) rs794727690 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.5513C>T (p.Pro1838Leu) rs761575935 0.00001
NM_001130987.2(DYSF):c.5526C>T (p.Ile1842=) rs375696757 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.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5556G>A (p.Leu1852=) rs2095071509 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.5594A>G (p.Asp1865Gly) rs773950181 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 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.5642+13C>T rs745964080 0.00001
NM_001130987.2(DYSF):c.5683G>A (p.Val1895Met) rs758389756 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.5761C>T (p.Gln1921Ter) rs398123795 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.5793C>T (p.Phe1931=) rs757197206 0.00001
NM_001130987.2(DYSF):c.5829A>G (p.Ala1943=) rs748766120 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5831G>A (p.Arg1944Gln) rs886043057 0.00001
NM_001130987.2(DYSF):c.5838G>A (p.Val1946=) rs780912992 0.00001
NM_001130987.2(DYSF):c.583C>G (p.Gln195Glu) rs768872906 0.00001
NM_001130987.2(DYSF):c.5855A>G (p.Asn1952Ser) rs747351345 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.588A>G (p.Gly196=) rs141002437 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.5945C>G (p.Ser1982Cys) rs142160134 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.6064-8C>G rs375157612 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6082T>C (p.Leu2028=) rs188223743 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.6167A>C (p.Asp2056Ala) rs925176602 0.00001
NM_001130987.2(DYSF):c.616C>T (p.Leu206=) rs780606842 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001130987.2(DYSF):c.6176G>A (p.Arg2059His) rs763205852 0.00001
NM_001130987.2(DYSF):c.6179C>T (p.Pro2060Leu) rs764429879 0.00001
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn) rs771663815 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6242G>A (p.Arg2081His) rs927657254 0.00001
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=) rs886042758 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.6270C>T (p.Ile2090=) rs1231224348 0.00001
NM_001130987.2(DYSF):c.627C>T (p.Ser209=) rs780331854 0.00001
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) rs561011151 0.00001
NM_001130987.2(DYSF):c.6283C>T (p.Leu2095=) rs201725164 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.6309C>T (p.Ile2103=) rs758160528 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.6332C>T (p.Ala2111Val) rs760938026 0.00001
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) rs185711021 0.00001
NM_001130987.2(DYSF):c.663A>G (p.Leu221=) rs1225760969 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.678G>A (p.Pro226=) rs779321489 0.00001
NM_001130987.2(DYSF):c.682C>A (p.His228Asn) rs146382803 0.00001
NM_001130987.2(DYSF):c.687C>T (p.Tyr229=) rs564416027 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.714G>A (p.Ala238=) rs546706280 0.00001
NM_001130987.2(DYSF):c.724A>C (p.Arg242=) rs755541995 0.00001
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro) rs1559048753 0.00001
NM_001130987.2(DYSF):c.735G>A (p.Leu245=) rs748463150 0.00001
NM_001130987.2(DYSF):c.759+9C>T rs761537567 0.00001
NM_001130987.2(DYSF):c.849G>C (p.Arg283=) rs2086581716 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.857T>G (p.Ile286Ser) rs375448108 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.888+10A>G rs745505535 0.00001
NM_001130987.2(DYSF):c.888+7G>C rs369722261 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.930T>C (p.Phe310=) rs2086636021 0.00001
NM_001130987.2(DYSF):c.954G>T (p.Val318=) rs753987509 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 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.966T>C (p.Arg322=) rs759748502 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_001130987.2(DYSF):c.999C>T (p.Phe333=) rs367878277 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
NM_003494.4(DYSF):c.39C>T (p.His13=) rs1005614411 0.00001
NM_003494.4(DYSF):c.42A>G (p.Thr14=) rs1017462889 0.00001
NM_003494.4(DYSF):c.51C>T (p.Thr17=) rs763030202 0.00001
NC_000002.11:g.(?_71681119)_(71694073_?)del
NC_000002.11:g.(?_71681129)_(71709120_?)dup
NC_000002.11:g.(?_71681129)_(71913622_?)dup
NC_000002.11:g.(?_71693963)_(71744179_?)dup
NC_000002.11:g.(?_71707993)_(71709120_?)del
NC_000002.11:g.(?_71730324)_(71730469_?)del
NC_000002.11:g.(?_71740967)_(71749805_?)del
NC_000002.11:g.(?_71755408)_(71755551_?)dup
NC_000002.11:g.(?_71783085)_(71913729_?)del
NC_000002.11:g.(?_71793585)_(71797846_?)del
NC_000002.11:g.(?_71801318)_(71801511_?)del
NC_000002.11:g.(?_71816713)_(71817428_?)dup
NC_000002.11:g.(?_71827822)_(71827982_?)del
NC_000002.11:g.(?_71838365)_(71840553_?)del
NC_000002.11:g.(?_71900503)_(71913622_?)del
NC_000002.11:g.(?_71913574)_(71913729_?)del
NC_000002.12:g.(?_71480873)_(71481980_?)del
NC_000002.12:g.(?_71511797)_(71539257_?)dup
NC_000002.12:g.(?_71520168)_(71549401_?)dup
NC_000002.12:g.(?_71549340)_(71549401_?)del
NC_000002.12:g.(?_71553001)_(71574381_?)dup
NC_000002.12:g.(?_71567941)_(71570344_?)del
NC_000002.12:g.(?_71679047)_(71679245_?)del
NC_000002.12:g.71480885del
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+14T>C
NM_001130987.2(DYSF):c.1002+15T>C rs529992457
NM_001130987.2(DYSF):c.1002+3A>G rs1447141486
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1002+8C>T
NM_001130987.2(DYSF):c.1003-12C>T
NM_001130987.2(DYSF):c.1003-14C>G
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1003-3C>A rs2087101244
NM_001130987.2(DYSF):c.1003-6T>C rs2152741412
NM_001130987.2(DYSF):c.1011G>A (p.Val337=) rs1573697664
NM_001130987.2(DYSF):c.1019T>C (p.Ile340Thr)
NM_001130987.2(DYSF):c.1026A>G (p.Arg342=)
NM_001130987.2(DYSF):c.1027G>A (p.Glu343Lys)
NM_001130987.2(DYSF):c.1027G>C (p.Glu343Gln)
NM_001130987.2(DYSF):c.1033+11dup
NM_001130987.2(DYSF):c.1033+15C>T
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1034-17G>C
NM_001130987.2(DYSF):c.1035G>T (p.Arg345=)
NM_001130987.2(DYSF):c.1037A>C (p.His346Pro) rs2087179153
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=) rs1553525671
NM_001130987.2(DYSF):c.1046T>G (p.Leu349Arg) rs2087180506
NM_001130987.2(DYSF):c.1047C>G (p.Leu349=)
NM_001130987.2(DYSF):c.1047C>T (p.Leu349=)
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser) rs2152742210
NM_001130987.2(DYSF):c.1057C>A (p.Leu353Met) rs752460236
NM_001130987.2(DYSF):c.1057C>T (p.Leu353=) rs752460236
NM_001130987.2(DYSF):c.1063C>A (p.Leu355Ile)
NM_001130987.2(DYSF):c.1077T>A (p.Asp359Glu) rs761584106
NM_001130987.2(DYSF):c.1089T>C (p.Ala363=) rs2152742250
NM_001130987.2(DYSF):c.108C>A (p.Thr36=)
NM_001130987.2(DYSF):c.108del (p.Val38fs) rs1320173977
NM_001130987.2(DYSF):c.1092G>A (p.Gly364=) rs2152742258
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs) rs1553525756
NM_001130987.2(DYSF):c.109A>G (p.Lys37Glu) rs2082828360
NM_001130987.2(DYSF):c.1102T>C (p.Tyr368His)
NM_001130987.2(DYSF):c.1104_1105del (p.Leu369fs)
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1111A>G (p.Thr371Ala)
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.1117del (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.1117dup (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.111A>G (p.Lys37=) rs1316230143
NM_001130987.2(DYSF):c.1128G>A (p.Leu376=)
NM_001130987.2(DYSF):c.1128G>C (p.Leu376=)
NM_001130987.2(DYSF):c.1131G>A (p.Gly377=)
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
NM_001130987.2(DYSF):c.1146G>C (p.Ala382=) rs749288662
NM_001130987.2(DYSF):c.1146G>T (p.Ala382=)
NM_001130987.2(DYSF):c.1149+10T>A
NM_001130987.2(DYSF):c.1149+16T>C
NM_001130987.2(DYSF):c.1149+17G>A
NM_001130987.2(DYSF):c.1149+19del
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1149+9A>G rs1573704374
NM_001130987.2(DYSF):c.114C>A (p.Val38=) rs963586500
NM_001130987.2(DYSF):c.1150-20G>C
NM_001130987.2(DYSF):c.1150-42_1155del rs1573743003
NM_001130987.2(DYSF):c.1150-43_1155delinsA rs1573743003
NM_001130987.2(DYSF):c.1150-5T>G
NM_001130987.2(DYSF):c.1150C>G (p.Leu384Val) rs759896755
NM_001130987.2(DYSF):c.1165C>T (p.Pro389Ser)
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=) rs886042490
NM_001130987.2(DYSF):c.1185C>T (p.Asp395=) rs2152748548
NM_001130987.2(DYSF):c.1187T>C (p.Ile396Thr)
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=) rs781380886
NM_001130987.2(DYSF):c.1200G>C (p.Leu400=) rs764593587
NM_001130987.2(DYSF):c.1203C>T (p.Leu401=)
NM_001130987.2(DYSF):c.1204C>G (p.Arg402Gly)
NM_001130987.2(DYSF):c.1204C>T (p.Arg402Trp)
NM_001130987.2(DYSF):c.120G>A (p.Lys40=) rs2082829925
NM_001130987.2(DYSF):c.1210A>G (p.Thr404Ala)
NM_001130987.2(DYSF):c.1212_1236del (p.Gly405fs) rs2152748581
NM_001130987.2(DYSF):c.1213_1250del (p.Gly405fs) rs1474253061
NM_001130987.2(DYSF):c.1215C>A (p.Gly405=)
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1216G>A (p.Val406Ile)
NM_001130987.2(DYSF):c.1216_1219dup (p.Ala407fs)
NM_001130987.2(DYSF):c.1218A>T (p.Val406=)
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1220C>T (p.Ala407Val) rs2087892446
NM_001130987.2(DYSF):c.1221C>T (p.Ala407=) rs932501116
NM_001130987.2(DYSF):c.1224G>A (p.Leu408=) rs2152748611
NM_001130987.2(DYSF):c.1224G>T (p.Leu408=)
NM_001130987.2(DYSF):c.1226G>A (p.Arg409Gln)
NM_001130987.2(DYSF):c.1226G>T (p.Arg409Leu) rs1224332034
NM_001130987.2(DYSF):c.1227A>G (p.Arg409=) rs915460671
NM_001130987.2(DYSF):c.1233C>T (p.Ala411=)
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)
NM_001130987.2(DYSF):c.1243C>T (p.Leu415=) rs2152748650
NM_001130987.2(DYSF):c.1251C>G (p.Val417=)
NM_001130987.2(DYSF):c.1251C>T (p.Val417=) rs2152748659
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1259_1261dup (p.Ala420dup) rs2152748674
NM_001130987.2(DYSF):c.1260C>A (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260C>G (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260C>T (p.Ala420=) rs764542175
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1261G>T (p.Glu421Ter)
NM_001130987.2(DYSF):c.1266C>T (p.Asp422=)
NM_001130987.2(DYSF):c.1270C>A (p.Pro424Thr)
NM_001130987.2(DYSF):c.1271del (p.Pro424fs) rs2152748702
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276+12G>A rs906028906
NM_001130987.2(DYSF):c.1276+12G>T
NM_001130987.2(DYSF):c.1276+15C>T
NM_001130987.2(DYSF):c.1276+18T>C
NM_001130987.2(DYSF):c.1276+1G>C
NM_001130987.2(DYSF):c.1276+2T>A
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1276+9G>A rs897697260
NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)
NM_001130987.2(DYSF):c.1276_1276+3del
NM_001130987.2(DYSF):c.1276_1276+7del rs2152748721
NM_001130987.2(DYSF):c.1277-14G>A
NM_001130987.2(DYSF):c.1277-17del
NM_001130987.2(DYSF):c.1277-18G>C
NM_001130987.2(DYSF):c.1277-20T>C
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1284T>C (p.Asp428=)
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
NM_001130987.2(DYSF):c.1290G>A (p.Val430=)
NM_001130987.2(DYSF):c.1290G>T (p.Val430=)
NM_001130987.2(DYSF):c.1291A>G (p.Met431Val)
NM_001130987.2(DYSF):c.129G>A (p.Val43=) rs2152680557
NM_001130987.2(DYSF):c.1305A>G (p.Lys435=) rs2152751254
NM_001130987.2(DYSF):c.1308G>C (p.Gln436His)
NM_001130987.2(DYSF):c.1308_1309del (p.Gln436fs)
NM_001130987.2(DYSF):c.1314T>C (p.Phe438=) rs762255707
NM_001130987.2(DYSF):c.1317C>A (p.Gly439=) rs1267921215
NM_001130987.2(DYSF):c.131A>C (p.Asn44Thr) rs1478546068
NM_001130987.2(DYSF):c.1329C>T (p.Asn443=) rs143355224
NM_001130987.2(DYSF):c.132C>T (p.Asn44=)
NM_001130987.2(DYSF):c.1338C>T (p.Asn446=)
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.134C>T (p.Pro45Leu) rs773503180
NM_001130987.2(DYSF):c.1350C>G (p.Pro450=)
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1356_1357delinsTC (p.Glu453Gln) rs2152751320
NM_001130987.2(DYSF):c.1359G>A (p.Glu453=) rs2152751330
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1371G>C (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1374dup (p.Lys459fs)
NM_001130987.2(DYSF):c.1379T>C (p.Met460Thr)
NM_001130987.2(DYSF):c.1380+12G>T
NM_001130987.2(DYSF):c.1380+1G>C rs2152751353
NM_001130987.2(DYSF):c.1380+8G>A
NM_001130987.2(DYSF):c.1380+8G>T
NM_001130987.2(DYSF):c.1380+9C>G
NM_001130987.2(DYSF):c.1380+9C>T rs1573760922
NM_001130987.2(DYSF):c.1380G>A (p.Met460Ile)
NM_001130987.2(DYSF):c.1381-10T>A
NM_001130987.2(DYSF):c.1381-12T>C
NM_001130987.2(DYSF):c.1381-19C>T
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1381-2del
NM_001130987.2(DYSF):c.1383G>A (p.Leu461=)
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile) rs1553535807
NM_001130987.2(DYSF):c.138A>G (p.Val46=)
NM_001130987.2(DYSF):c.1392G>C (p.Lys464Asn)
NM_001130987.2(DYSF):c.1394T>A (p.Ile465Asn) rs2152760978
NM_001130987.2(DYSF):c.1395C>A (p.Ile465=) rs1255740798
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg) rs2082832384
NM_001130987.2(DYSF):c.1407G>T (p.Thr469=)
NM_001130987.2(DYSF):c.1410_1411del (p.Asn471fs)
NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)
NM_001130987.2(DYSF):c.1419G>A (p.Gln473=) rs2152761012
NM_001130987.2(DYSF):c.1425C>T (p.Asn475=) rs2152761017
NM_001130987.2(DYSF):c.1431C>T (p.Asn477=) rs1461796591
NM_001130987.2(DYSF):c.1437A>C (p.Thr479=)
NM_001130987.2(DYSF):c.1438C>T (p.Leu480=)
NM_001130987.2(DYSF):c.1440G>A (p.Leu480=) rs1311070634
NM_001130987.2(DYSF):c.1440G>C (p.Leu480=)
NM_001130987.2(DYSF):c.1443T>C (p.Pro481=) rs2152761051
NM_001130987.2(DYSF):c.1449+11T>G
NM_001130987.2(DYSF):c.1449+15C>G
NM_001130987.2(DYSF):c.1449+16C>G
NM_001130987.2(DYSF):c.1449+19_1449+35del
NM_001130987.2(DYSF):c.1449+7C>A
NM_001130987.2(DYSF):c.1449+7C>G rs199608017
NM_001130987.2(DYSF):c.1449+9C>T rs2089175621
NM_001130987.2(DYSF):c.144T>A (p.Asn48Lys)
NM_001130987.2(DYSF):c.1450-14T>C
NM_001130987.2(DYSF):c.1450-16T>C
NM_001130987.2(DYSF):c.1450-19G>A
NM_001130987.2(DYSF):c.1450-6C>T rs757776087
NM_001130987.2(DYSF):c.1450-7T>C rs2089201975
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu) rs1573810761
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile) rs750819109
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1464C>T (p.Cys488=) rs202044973
NM_001130987.2(DYSF):c.147+1G>A rs2082833010
NM_001130987.2(DYSF):c.147+6dup
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1472_1473del (p.Met491fs) rs2152761337
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.1476G>C (p.Arg492Ser)
NM_001130987.2(DYSF):c.148-17T>G
NM_001130987.2(DYSF):c.148-1G>A rs2082940446
NM_001130987.2(DYSF):c.148-20C>T
NM_001130987.2(DYSF):c.148-7del
NM_001130987.2(DYSF):c.148-9T>C rs779606200
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1491C>T (p.Asp497=)
NM_001130987.2(DYSF):c.1491del (p.Trp498fs)
NM_001130987.2(DYSF):c.1493+11A>G
NM_001130987.2(DYSF):c.1493+14C>T
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1493+7del rs2089209523
NM_001130987.2(DYSF):c.1494-10C>T
NM_001130987.2(DYSF):c.1494-12C>T
NM_001130987.2(DYSF):c.1494-17C>G
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-4C>T rs377488411
NM_001130987.2(DYSF):c.1494-7G>A
NM_001130987.2(DYSF):c.1494-9T>G
NM_001130987.2(DYSF):c.1501C>T (p.Leu501=)
NM_001130987.2(DYSF):c.1501del (p.Arg500_Leu501insTer) rs2089677596
NM_001130987.2(DYSF):c.1515del (p.Asp505fs)
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.1521G>A (p.Val507=)
NM_001130987.2(DYSF):c.1523C>T (p.Ala508Val)
NM_001130987.2(DYSF):c.1533C>T (p.Tyr511=) rs2152766938
NM_001130987.2(DYSF):c.1534C>T (p.Leu512=) rs2152766942
NM_001130987.2(DYSF):c.1536G>A (p.Leu512=)
NM_001130987.2(DYSF):c.1536G>T (p.Leu512=)
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs) rs774402454
NM_001130987.2(DYSF):c.1539T>C (p.Ser513=) rs2152766953
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp)
NM_001130987.2(DYSF):c.1553C>T (p.Ser518Phe)
NM_001130987.2(DYSF):c.1556C>T (p.Ala519Val)
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1566A>G (p.Gly522=)
NM_001130987.2(DYSF):c.1567G>T (p.Glu523Ter) rs2089684117
NM_001130987.2(DYSF):c.156A>G (p.Glu52=)
NM_001130987.2(DYSF):c.1576+10C>T rs2152767049
NM_001130987.2(DYSF):c.1576+15C>T
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1576+4T>A
NM_001130987.2(DYSF):c.1576+8C>T
NM_001130987.2(DYSF):c.1576+9C>T rs1257070622
NM_001130987.2(DYSF):c.1577-11G>T
NM_001130987.2(DYSF):c.1577-14C>T
NM_001130987.2(DYSF):c.1577-15A>G rs2152786840
NM_001130987.2(DYSF):c.1577-1630G>A
NM_001130987.2(DYSF):c.1577-1633T>A
NM_001130987.2(DYSF):c.1577-1633T>C
NM_001130987.2(DYSF):c.1577-1633T>G
NM_001130987.2(DYSF):c.1577-1635C>T
NM_001130987.2(DYSF):c.1577-1638T>C
NM_001130987.2(DYSF):c.1577-1640T>C
NM_001130987.2(DYSF):c.1577-1642G>A
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-1698del rs2152783819
NM_001130987.2(DYSF):c.1577-1701T>C rs201701337
NM_001130987.2(DYSF):c.1577-1706T>G
NM_001130987.2(DYSF):c.1577-17C>A
NM_001130987.2(DYSF):c.1577-17C>T
NM_001130987.2(DYSF):c.1577-1G>A rs189923208
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.1577-6T>C
NM_001130987.2(DYSF):c.1577-9G>A
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.1587C>T (p.Tyr529=)
NM_001130987.2(DYSF):c.1590G>A (p.Leu530=) rs2090907734
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.1599C>T (p.Leu533=)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1602C>G (p.Pro534=) rs755709561
NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)
NM_001130987.2(DYSF):c.1623C>T (p.Ile541=)
NM_001130987.2(DYSF):c.1629C>A (p.Leu543=) rs2152786985
NM_001130987.2(DYSF):c.162C>T (p.Asp54=) rs755413969
NM_001130987.2(DYSF):c.1631A>G (p.Tyr544Cys) rs767304788
NM_001130987.2(DYSF):c.1632del (p.Leu543_Tyr544insTer)
NM_001130987.2(DYSF):c.1635C>A (p.Gly545=)
NM_001130987.2(DYSF):c.1641C>A (p.Pro547=)
NM_001130987.2(DYSF):c.1650C>T (p.Phe550=)
NM_001130987.2(DYSF):c.1659C>T (p.Phe553=)
NM_001130987.2(DYSF):c.1671C>T (p.Tyr557=)
NM_001130987.2(DYSF):c.1674A>C (p.Thr558=)
NM_001130987.2(DYSF):c.1674del (p.Glu559fs)
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1678C>G (p.Leu560Val)
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.168G>A (p.Lys56=)
NM_001130987.2(DYSF):c.1692+13G>A
NM_001130987.2(DYSF):c.1692+15G>A
NM_001130987.2(DYSF):c.1692+16C>T
NM_001130987.2(DYSF):c.1692+1G>A rs1319833991
NM_001130987.2(DYSF):c.1692+1G>C
NM_001130987.2(DYSF):c.1692+20G>C
NM_001130987.2(DYSF):c.1692+9G>C rs2152787133
NM_001130987.2(DYSF):c.1693-11C>A
NM_001130987.2(DYSF):c.1693-11C>T
NM_001130987.2(DYSF):c.1693-12C>T
NM_001130987.2(DYSF):c.1693-17C>G
NM_001130987.2(DYSF):c.1693-17C>T
NM_001130987.2(DYSF):c.1698A>C (p.Glu566Asp) rs1573933468
NM_001130987.2(DYSF):c.1704G>A (p.Val568=) rs2152787950
NM_001130987.2(DYSF):c.170G>A (p.Gly57Asp) rs2152682681
NM_001130987.2(DYSF):c.1710del (p.Arg571fs) rs2090953993
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1713T>C (p.Arg571=) rs2152787978
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=) rs1559138079
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1728C>T (p.Leu576=)
NM_001130987.2(DYSF):c.1731C>A (p.Ser577=)
NM_001130987.2(DYSF):c.1740C>G (p.Thr580=) rs1206191370
NM_001130987.2(DYSF):c.1744C>T (p.Leu582=)
NM_001130987.2(DYSF):c.1746G>C (p.Leu582=) rs1674092066
NM_001130987.2(DYSF):c.174C>A (p.Ile58=) rs1478264060
NM_001130987.2(DYSF):c.1758T>C (p.Ser586=)
NM_001130987.2(DYSF):c.175C>A (p.Pro59Thr) rs1400538817
NM_001130987.2(DYSF):c.1761A>G (p.Glu587=) rs2152788050
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.1764G>A (p.Gln588=) rs2152788061
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs) rs1553542773
NM_001130987.2(DYSF):c.176C>G (p.Pro59Arg)
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1775A>G (p.Asp592Gly)
NM_001130987.2(DYSF):c.1776C>T (p.Asp592=)
NM_001130987.2(DYSF):c.1778_1782dup (p.Ala595fs) rs2152788089
NM_001130987.2(DYSF):c.177C>T (p.Pro59=) rs2082943716
NM_001130987.2(DYSF):c.1782T>G (p.Pro594=)
NM_001130987.2(DYSF):c.178del (p.Leu60fs) rs1558967217
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1794C>T (p.Ile598=)
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.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.1803G>A (p.Val601=) rs562084504
NM_001130987.2(DYSF):c.1806+2T>G rs2090962038
NM_001130987.2(DYSF):c.1806+7G>C rs758951311
NM_001130987.2(DYSF):c.1806+8G>A
NM_001130987.2(DYSF):c.1806+9T>A
NM_001130987.2(DYSF):c.1807-14C>T
NM_001130987.2(DYSF):c.1807-15A>G
NM_001130987.2(DYSF):c.1807-20G>T
NM_001130987.2(DYSF):c.1807-5C>A
NM_001130987.2(DYSF):c.1807-7C>T
NM_001130987.2(DYSF):c.1807-9T>C rs2152790570
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1824C>G (p.Arg608=) rs2091064936
NM_001130987.2(DYSF):c.1830C>T (p.Tyr610=) rs2152790652
NM_001130987.2(DYSF):c.1832C>T (p.Ser611Phe)
NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs) rs1559141367
NM_001130987.2(DYSF):c.1840G>A (p.Ala614Thr) rs998546221
NM_001130987.2(DYSF):c.1840G>T (p.Ala614Ser) rs998546221
NM_001130987.2(DYSF):c.1842G>A (p.Ala614=)
NM_001130987.2(DYSF):c.1844C>G (p.Ala615Gly) rs893079344
NM_001130987.2(DYSF):c.1852T>C (p.Ser618Pro) rs2152790710
NM_001130987.2(DYSF):c.1860C>A (p.Thr620=)
NM_001130987.2(DYSF):c.1860C>T (p.Thr620=)
NM_001130987.2(DYSF):c.1860del (p.Met621fs) rs2091068134
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1872T>C (p.Asp624=) rs2091069583
NM_001130987.2(DYSF):c.1875G>A (p.Val625=) rs766588008
NM_001130987.2(DYSF):c.1881_1882inv (p.Ala628Thr)
NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)
NM_001130987.2(DYSF):c.1890G>A (p.Gln630=) rs2152790814
NM_001130987.2(DYSF):c.1908G>A (p.Gly636=)
NM_001130987.2(DYSF):c.1911C>T (p.Asn637=) rs2091073337
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1917G>C (p.Gly639=)
NM_001130987.2(DYSF):c.1922del (p.Lys641fs) rs1573943246
NM_001130987.2(DYSF):c.1927G>A (p.Asp643Asn)
NM_001130987.2(DYSF):c.1938C>T (p.Cys646=) rs1384389868
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=) rs768043804
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.1954A>G (p.Thr652Ala)
NM_001130987.2(DYSF):c.1956C>T (p.Thr652=)
NM_001130987.2(DYSF):c.1959T>G (p.Thr653=) rs2152790987
NM_001130987.2(DYSF):c.195G>A (p.Glu65=)
NM_001130987.2(DYSF):c.1962G>A (p.Gln654=)
NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1966A>C (p.Ser656Arg) rs765366281
NM_001130987.2(DYSF):c.1968C>A (p.Ser656Arg) rs2091078877
NM_001130987.2(DYSF):c.1974A>G (p.Ala658=)
NM_001130987.2(DYSF):c.1976_1984+3dup rs1573943846
NM_001130987.2(DYSF):c.1977C>T (p.Val659=)
NM_001130987.2(DYSF):c.1984+14C>T
NM_001130987.2(DYSF):c.1984+19C>T
NM_001130987.2(DYSF):c.1984+2T>C rs2152791033
NM_001130987.2(DYSF):c.1984+8A>T rs2152791044
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.1985-16C>A
NM_001130987.2(DYSF):c.1985-17C>T
NM_001130987.2(DYSF):c.1985-18C>A
NM_001130987.2(DYSF):c.1985-18C>T
NM_001130987.2(DYSF):c.1985-2A>G
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.1985-7A>G
NM_001130987.2(DYSF):c.1985-8del
NM_001130987.2(DYSF):c.1986G>A (p.Gly662=)
NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His)
NM_001130987.2(DYSF):c.2001C>T (p.Tyr667=)
NM_001130987.2(DYSF):c.2002del (p.Leu668fs)
NM_001130987.2(DYSF):c.2005C>T (p.Pro669Ser) rs2091141514
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=) rs1553544209
NM_001130987.2(DYSF):c.201T>C (p.His67=)
NM_001130987.2(DYSF):c.2023C>T (p.Pro675Ser) rs2091143336
NM_001130987.2(DYSF):c.2028G>A (p.Val676=) rs2091143475
NM_001130987.2(DYSF):c.2029G>A (p.Val677Met) rs2091143613
NM_001130987.2(DYSF):c.2031G>A (p.Val677=)
NM_001130987.2(DYSF):c.2037G>A (p.Leu679=)
NM_001130987.2(DYSF):c.2042C>T (p.Ser681Phe)
NM_001130987.2(DYSF):c.2046C>T (p.Tyr682=) rs2152792555
NM_001130987.2(DYSF):c.2052G>A (p.Glu684=)
NM_001130987.2(DYSF):c.2058C>T (p.Ile686=) rs938649493
NM_001130987.2(DYSF):c.2059A>G (p.Ser687Gly) rs113450735
NM_001130987.2(DYSF):c.205G>A (p.Val69Met) rs114986640
NM_001130987.2(DYSF):c.2061C>T (p.Ser687=) rs2152792575
NM_001130987.2(DYSF):c.2064T>C (p.His688=) rs2152792591
NM_001130987.2(DYSF):c.2070C>A (p.Ile690=)
NM_001130987.2(DYSF):c.2070C>G (p.Ile690Met)
NM_001130987.2(DYSF):c.2070del (p.Ile690fs) rs1573949142
NM_001130987.2(DYSF):c.2077C>T (p.Gln693Ter) rs2152792645
NM_001130987.2(DYSF):c.2082C>T (p.Asn694=)
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.2106G>T (p.Arg702=) rs2152792698
NM_001130987.2(DYSF):c.2107C>T (p.Leu703=) rs74423119
NM_001130987.2(DYSF):c.2109+11A>C
NM_001130987.2(DYSF):c.2109+12C>G
NM_001130987.2(DYSF):c.2109+12C>T
NM_001130987.2(DYSF):c.2109+16C>G
NM_001130987.2(DYSF):c.2109+1G>C rs2152792714
NM_001130987.2(DYSF):c.2110-10C>G
NM_001130987.2(DYSF):c.2110-10C>T
NM_001130987.2(DYSF):c.2110-11C>T
NM_001130987.2(DYSF):c.2110-12C>T
NM_001130987.2(DYSF):c.2110-15C>T
NM_001130987.2(DYSF):c.2110-5C>A
NM_001130987.2(DYSF):c.2110-9A>G
NM_001130987.2(DYSF):c.2114C>A (p.Ala705Asp)
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser) rs1262272147
NM_001130987.2(DYSF):c.2131del (p.His711fs)
NM_001130987.2(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.2(DYSF):c.2135T>G (p.Leu712Arg)
NM_001130987.2(DYSF):c.2136G>A (p.Leu712=)
NM_001130987.2(DYSF):c.2140C>T (p.Leu714=) rs2152796039
NM_001130987.2(DYSF):c.2148G>T (p.Ala716=)
NM_001130987.2(DYSF):c.2149C>T (p.Gln717Ter) rs1320536163
NM_001130987.2(DYSF):c.2151G>A (p.Gln717=)
NM_001130987.2(DYSF):c.2169G>A (p.Val723=)
NM_001130987.2(DYSF):c.2178G>C (p.Leu726=)
NM_001130987.2(DYSF):c.2187G>A (p.Gln729=) rs2152796141
NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)
NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)
NM_001130987.2(DYSF):c.2200_2205delinsGCTCA (p.Leu734fs) rs2091313766
NM_001130987.2(DYSF):c.2211C>G (p.Gly737=)
NM_001130987.2(DYSF):c.2216+10A>T rs1573963862
NM_001130987.2(DYSF):c.2216+11C>A
NM_001130987.2(DYSF):c.2216+13T>G
NM_001130987.2(DYSF):c.2216+16_2216+24del rs2152796251
NM_001130987.2(DYSF):c.2216+17G>A
NM_001130987.2(DYSF):c.2216+19C>G
NM_001130987.2(DYSF):c.2216+20C>G
NM_001130987.2(DYSF):c.2216+5G>A
NM_001130987.2(DYSF):c.2216+7G>A
NM_001130987.2(DYSF):c.2216+8G>A rs2152796229
NM_001130987.2(DYSF):c.2216+9G>A rs1040115070
NM_001130987.2(DYSF):c.2216+9G>T
NM_001130987.2(DYSF):c.2216+9del rs760948624
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2217-15G>C
NM_001130987.2(DYSF):c.2217-15G>T
NM_001130987.2(DYSF):c.2217-17C>G
NM_001130987.2(DYSF):c.2217-19A>G
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2217-20C>T
NM_001130987.2(DYSF):c.2217-6T>G
NM_001130987.2(DYSF):c.2218C>G (p.Gln740Glu) rs1380192355
NM_001130987.2(DYSF):c.2223T>C (p.Pro741=) rs1574000542
NM_001130987.2(DYSF):c.2224C>T (p.Leu742=)
NM_001130987.2(DYSF):c.2231A>T (p.Asp744Val)
NM_001130987.2(DYSF):c.2232C>T (p.Asp744=) rs2152803824
NM_001130987.2(DYSF):c.2237A>G (p.His746Arg)
NM_001130987.2(DYSF):c.2241G>A (p.Glu747=)
NM_001130987.2(DYSF):c.2246C>T (p.Pro749Leu) rs2152803841
NM_001130987.2(DYSF):c.2247C>T (p.Pro749=) rs2091788049
NM_001130987.2(DYSF):c.2249C>T (p.Ser750Phe) rs2091788398
NM_001130987.2(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.2(DYSF):c.225G>T (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.2265C>T (p.Asp755=)
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.2278C>T (p.Gln760Ter)
NM_001130987.2(DYSF):c.2286C>T (p.Arg762=)
NM_001130987.2(DYSF):c.2289C>T (p.Thr763=)
NM_001130987.2(DYSF):c.2292T>C (p.His764=) rs2152803900
NM_001130987.2(DYSF):c.229G>A (p.Gly77Arg)
NM_001130987.2(DYSF):c.2310T>C (p.Thr770=) rs2152803913
NM_001130987.2(DYSF):c.2310T>G (p.Thr770=)
NM_001130987.2(DYSF):c.231G>A (p.Gly77=) rs1553508988
NM_001130987.2(DYSF):c.2326C>T (p.Leu776=) rs2152803929
NM_001130987.2(DYSF):c.2331G>A (p.Lys777=) rs2152803935
NM_001130987.2(DYSF):c.2334C>G (p.Leu778=)
NM_001130987.2(DYSF):c.2339A>G (p.His780Arg) rs2152803946
NM_001130987.2(DYSF):c.2341A>G (p.Ser781Gly) rs2091794465
NM_001130987.2(DYSF):c.2345A>G (p.Glu782Gly)
NM_001130987.2(DYSF):c.2350C>T (p.Pro784Ser) rs1466276981
NM_001130987.2(DYSF):c.2358T>C (p.Ala786=) rs1574001503
NM_001130987.2(DYSF):c.2361G>A (p.Leu787=)
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2365_2409del45 (p.Gln789_Glu803del)
NM_001130987.2(DYSF):c.2367G>A (p.Gln789=) rs2152803972
NM_001130987.2(DYSF):c.2374G>A (p.Asp792Asn) rs2152803988
NM_001130987.2(DYSF):c.2383C>T (p.Leu795=)
NM_001130987.2(DYSF):c.2388T>C (p.Arg796=) rs2152804009
NM_001130987.2(DYSF):c.239+14A>T
NM_001130987.2(DYSF):c.239+15G>A
NM_001130987.2(DYSF):c.239+15G>T
NM_001130987.2(DYSF):c.239+16G>A rs370433490
NM_001130987.2(DYSF):c.239+16G>C rs370433490
NM_001130987.2(DYSF):c.239+17G>A
NM_001130987.2(DYSF):c.239+17G>T
NM_001130987.2(DYSF):c.239+18G>A rs2152682840
NM_001130987.2(DYSF):c.239+20G>T
NM_001130987.2(DYSF):c.239+20del
NM_001130987.2(DYSF):c.239+7T>A
NM_001130987.2(DYSF):c.239+7T>G
NM_001130987.2(DYSF):c.2397C>G (p.Ala799=)
NM_001130987.2(DYSF):c.2398del (p.Leu800fs)
NM_001130987.2(DYSF):c.240-10C>T
NM_001130987.2(DYSF):c.240-14C>T
NM_001130987.2(DYSF):c.240-3C>T rs1013317246
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.240-6T>A rs896011451
NM_001130987.2(DYSF):c.2404G>A (p.Glu802Lys)
NM_001130987.2(DYSF):c.2409+10C>T rs2152804044
NM_001130987.2(DYSF):c.2409+13G>C rs2152804057
NM_001130987.2(DYSF):c.2409+1G>T
NM_001130987.2(DYSF):c.2410-10C>G
NM_001130987.2(DYSF):c.2410-11C>T
NM_001130987.2(DYSF):c.2410-15C>A
NM_001130987.2(DYSF):c.2410-17C>T
NM_001130987.2(DYSF):c.2410-20G>A
NM_001130987.2(DYSF):c.2410-2A>G rs1242016118
NM_001130987.2(DYSF):c.2410-6G>A rs113640471
NM_001130987.2(DYSF):c.2410-6G>T rs113640471
NM_001130987.2(DYSF):c.2418C>T (p.Asn806=)
NM_001130987.2(DYSF):c.2420G>C (p.Ser807Thr) rs886043898
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2424G>A (p.Leu808=)
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.2435T>A (p.Val812Asp)
NM_001130987.2(DYSF):c.2436C>T (p.Val812=)
NM_001130987.2(DYSF):c.2439C>G (p.Ile813Met) rs2091945245
NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter) rs2091945455
NM_001130987.2(DYSF):c.2448G>C (p.Leu816=) rs1416175829
NM_001130987.2(DYSF):c.2450A>G (p.Gln817Arg)
NM_001130987.2(DYSF):c.2454A>T (p.Gly818=)
NM_001130987.2(DYSF):c.2476C>T (p.Arg826Trp) rs1345130790
NM_001130987.2(DYSF):c.2476dup (p.Arg826fs)
NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)
NM_001130987.2(DYSF):c.2481G>A (p.Val827=)
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2483_2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2486C>T (p.Ala829Val) rs2091948098
NM_001130987.2(DYSF):c.2489A>C (p.His830Pro) rs2091948551
NM_001130987.2(DYSF):c.2491C>G (p.Gln831Glu) rs2152806432
NM_001130987.2(DYSF):c.2496C>T (p.Val832=) rs932447764
NM_001130987.2(DYSF):c.2499C>T (p.Leu833=)
NM_001130987.2(DYSF):c.2509C>A (p.Arg837=) rs371841411
NM_001130987.2(DYSF):c.2509C>G (p.Arg837Gly)
NM_001130987.2(DYSF):c.2511G>A (p.Arg837=)
NM_001130987.2(DYSF):c.2517C>T (p.Ala839=)
NM_001130987.2(DYSF):c.2519A>G (p.Asn840Ser)
NM_001130987.2(DYSF):c.2520C>T (p.Asn840=)
NM_001130987.2(DYSF):c.2523C>T (p.Tyr841=) rs2091950553
NM_001130987.2(DYSF):c.2528G>T (p.Gly843Val)
NM_001130987.2(DYSF):c.2541G>A (p.Gly847=)
NM_001130987.2(DYSF):c.2545C>T (p.Leu849=) rs2152806488
NM_001130987.2(DYSF):c.2547A>G (p.Leu849=)
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.254C>A (p.Ala85Asp) rs772008300
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.2552C>G (p.Thr851Arg)
NM_001130987.2(DYSF):c.2560C>G (p.Leu854Val)
NM_001130987.2(DYSF):c.2562G>A (p.Leu854=) rs763143515
NM_001130987.2(DYSF):c.2562G>C (p.Leu854=)
NM_001130987.2(DYSF):c.2565+18C>T
NM_001130987.2(DYSF):c.2565+19dup rs1160697607
NM_001130987.2(DYSF):c.2565+20A>G
NM_001130987.2(DYSF):c.2565+20A>T
NM_001130987.2(DYSF):c.2566-1495_3202del
NM_001130987.2(DYSF):c.2566-1496_3203del
NM_001130987.2(DYSF):c.2566-14T>C
NM_001130987.2(DYSF):c.2566-14_2566-12del
NM_001130987.2(DYSF):c.2566-17C>T
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2569C>T (p.Pro857Ser) rs923314140
NM_001130987.2(DYSF):c.2583G>C (p.Val861=) rs554512393
NM_001130987.2(DYSF):c.2590G>T (p.Ala864Ser)
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter) rs780129376
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro) rs779790516
NM_001130987.2(DYSF):c.2613G>A (p.Arg871=)
NM_001130987.2(DYSF):c.2616C>T (p.Val872=)
NM_001130987.2(DYSF):c.2624G>A (p.Trp875Ter) rs2152811000
NM_001130987.2(DYSF):c.2628del (p.Phe876fs)
NM_001130987.2(DYSF):c.2631G>A (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2634C>T (p.Leu878=)
NM_001130987.2(DYSF):c.2635T>G (p.Ser879Ala)
NM_001130987.2(DYSF):c.2635_2636del (p.Val880fs) rs2152811004
NM_001130987.2(DYSF):c.2646G>C (p.Glu882Asp)
NM_001130987.2(DYSF):c.2648dup (p.Glu884fs) rs2092209876
NM_001130987.2(DYSF):c.2649G>A (p.Lys883=)
NM_001130987.2(DYSF):c.264A>G (p.Pro88=) rs2152715680
NM_001130987.2(DYSF):c.2650G>C (p.Glu884Gln) rs2092210085
NM_001130987.2(DYSF):c.2652G>A (p.Glu884=) rs1221035313
NM_001130987.2(DYSF):c.2653T>A (p.Phe885Ile) rs2092210480
NM_001130987.2(DYSF):c.2664T>C (p.Phe888=) rs1441467585
NM_001130987.2(DYSF):c.2666C>T (p.Ala889Val)
NM_001130987.2(DYSF):c.2667T>C (p.Ala889=)
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=) rs530181166
NM_001130987.2(DYSF):c.2680T>A (p.Ser894Thr) rs2092212282
NM_001130987.2(DYSF):c.2682T>G (p.Ser894=)
NM_001130987.2(DYSF):c.2684del (p.Val895fs)
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2697+14_2697+16del
NM_001130987.2(DYSF):c.2697+15_2697+17dup
NM_001130987.2(DYSF):c.2697+16C>G
NM_001130987.2(DYSF):c.2697+16C>T
NM_001130987.2(DYSF):c.2697+17C>T
NM_001130987.2(DYSF):c.2697+19C>T
NM_001130987.2(DYSF):c.2697+1G>C rs140108514
NM_001130987.2(DYSF):c.2697+20C>A
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2697+5G>C rs2092213253
NM_001130987.2(DYSF):c.2697+9C>T rs2152811121
NM_001130987.2(DYSF):c.2698-15T>G
NM_001130987.2(DYSF):c.2698-19A>C
NM_001130987.2(DYSF):c.2698-3C>T rs2092221987
NM_001130987.2(DYSF):c.2698-6C>T
NM_001130987.2(DYSF):c.2698-7C>A
NM_001130987.2(DYSF):c.2702A>C (p.Glu901Ala) rs2152811264
NM_001130987.2(DYSF):c.2707G>T (p.Glu903Ter) rs770997582
NM_001130987.2(DYSF):c.2715G>A (p.Lys905=) rs2152811276
NM_001130987.2(DYSF):c.2718G>A (p.Leu906=)
NM_001130987.2(DYSF):c.2722C>T (p.Leu908Phe)
NM_001130987.2(DYSF):c.2729G>A (p.Gly910Glu)
NM_001130987.2(DYSF):c.273G>A (p.Glu91=) rs1191751443
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2745G>C (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2745G>T (p.Thr915=)
NM_001130987.2(DYSF):c.2760C>A (p.Pro920=)
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.276C>G (p.Val92=) rs1423519649
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
NM_001130987.2(DYSF):c.2779G>A (p.Gly927Ser) rs936655959
NM_001130987.2(DYSF):c.2781del (p.Lys928fs)
NM_001130987.2(DYSF):c.2789A>C (p.Lys930Thr)
NM_001130987.2(DYSF):c.2796C>A (p.Pro932=)
NM_001130987.2(DYSF):c.2802C>T (p.Asp934=)
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.2811C>T (p.Arg937=) rs1378187679
NM_001130987.2(DYSF):c.2814C>G (p.Pro938=) rs2152811408
NM_001130987.2(DYSF):c.2814C>T (p.Pro938=) rs2152811408
NM_001130987.2(DYSF):c.2817G>T (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2823C>T (p.Gly941=)
NM_001130987.2(DYSF):c.2824T>G (p.Trp942Gly) rs780035723
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>A (p.Val950Met)
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2857G>T (p.Glu953Ter)
NM_001130987.2(DYSF):c.2859G>A (p.Glu953=) rs2152811483
NM_001130987.2(DYSF):c.2864+11G>T
NM_001130987.2(DYSF):c.2864+12G>A
NM_001130987.2(DYSF):c.2864+14A>C
NM_001130987.2(DYSF):c.2864+14A>G
NM_001130987.2(DYSF):c.2864+19G>A
NM_001130987.2(DYSF):c.2864+20G>A
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2864+7C>A rs770354145
NM_001130987.2(DYSF):c.2864+7_2864+9del rs2152811500
NM_001130987.2(DYSF):c.2864+8G>T rs371686795
NM_001130987.2(DYSF):c.2864+9T>C
NM_001130987.2(DYSF):c.2865-11dup
NM_001130987.2(DYSF):c.2865-16C>G rs1394253038
NM_001130987.2(DYSF):c.2865-1G>A rs2152813916
NM_001130987.2(DYSF):c.2865-20T>C
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2865-2A>G
NM_001130987.2(DYSF):c.2865-4A>G
NM_001130987.2(DYSF):c.2865-6C>T
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2865-9C>T
NM_001130987.2(DYSF):c.2866C>T (p.Leu956=)
NM_001130987.2(DYSF):c.2868G>C (p.Leu956=)
NM_001130987.2(DYSF):c.2871C>A (p.Leu957=) rs373185538
NM_001130987.2(DYSF):c.2871C>T (p.Leu957=) rs373185538
NM_001130987.2(DYSF):c.2872C>T (p.His958Tyr)
NM_001130987.2(DYSF):c.2875G>C (p.Asp959His) rs1553554968
NM_001130987.2(DYSF):c.287C>T (p.Pro96Leu) rs774912908
NM_001130987.2(DYSF):c.2888G>A (p.Gly963Asp)
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
NM_001130987.2(DYSF):c.2891del (p.His964fs)
NM_001130987.2(DYSF):c.2892C>T (p.His964=) rs886044637
NM_001130987.2(DYSF):c.2895G>C (p.Leu965=)
NM_001130987.2(DYSF):c.2898C>T (p.Ser966=)
NM_001130987.2(DYSF):c.2900_2906del (p.Ser966_Phe967insTer)
NM_001130987.2(DYSF):c.2905G>T (p.Glu969Ter) rs2152813970
NM_001130987.2(DYSF):c.2907A>G (p.Glu969=)
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.2(DYSF):c.2928C>T (p.Thr976=) rs148531939
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro) rs752689148
NM_001130987.2(DYSF):c.2932C>T (p.Leu978Phe)
NM_001130987.2(DYSF):c.2955dup (p.Met986fs) rs2152814060
NM_001130987.2(DYSF):c.2956A>C (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.2964C>T (p.Asp988=)
NM_001130987.2(DYSF):c.2967C>T (p.Asn989=) rs932028347
NM_001130987.2(DYSF):c.2971A>G (p.Thr991Ala)
NM_001130987.2(DYSF):c.2972C>T (p.Thr991Ile) rs2152814108
NM_001130987.2(DYSF):c.2974G>C (p.Asp992His) rs200422222
NM_001130987.2(DYSF):c.2976T>A (p.Asp992Glu) rs1328741092
NM_001130987.2(DYSF):c.2977G>A (p.Val993Met)
NM_001130987.2(DYSF):c.2979+12A>T
NM_001130987.2(DYSF):c.2979+13C>G
NM_001130987.2(DYSF):c.2979+16del
NM_001130987.2(DYSF):c.2979+20G>T
NM_001130987.2(DYSF):c.2979+8A>C
NM_001130987.2(DYSF):c.297C>A (p.Ser99=)
NM_001130987.2(DYSF):c.2980-15C>G
NM_001130987.2(DYSF):c.2980-19T>C
NM_001130987.2(DYSF):c.2980-1G>C rs2092340224
NM_001130987.2(DYSF):c.2980-4T>A rs2152814485
NM_001130987.2(DYSF):c.2980-5C>G
NM_001130987.2(DYSF):c.2980-7T>G
NM_001130987.2(DYSF):c.2980-8G>A
NM_001130987.2(DYSF):c.2985G>A (p.Gly995=) rs772573481
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)
NM_001130987.2(DYSF):c.2991G>A (p.Lys997=)
NM_001130987.2(DYSF):c.2994del (p.Leu999fs) rs2092340996
NM_001130987.2(DYSF):c.3009C>T (p.Asp1003=)
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val) rs1559183642
NM_001130987.2(DYSF):c.3018_3019delinsAA (p.Cys1006_Pro1007delinsTer) rs2152814567
NM_001130987.2(DYSF):c.301A>G (p.Ser101Gly) rs1553518141
NM_001130987.2(DYSF):c.3020C>T (p.Pro1007Leu)
NM_001130987.2(DYSF):c.3021A>C (p.Pro1007=)
NM_001130987.2(DYSF):c.3021A>G (p.Pro1007=) rs767310734
NM_001130987.2(DYSF):c.3033G>A (p.Lys1011=)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3045G>A (p.Glu1015=)
NM_001130987.2(DYSF):c.3050G>A (p.Trp1017Ter) rs2152814618
NM_001130987.2(DYSF):c.3067C>A (p.Arg1023=) rs778316824
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.306del (p.Phe102fs) rs2085171684
NM_001130987.2(DYSF):c.3070G>C (p.Ala1024Pro)
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
NM_001130987.2(DYSF):c.3078T>C (p.Asp1026=)
NM_001130987.2(DYSF):c.3085+10A>G
NM_001130987.2(DYSF):c.3085+11T>A
NM_001130987.2(DYSF):c.3085+18C>A
NM_001130987.2(DYSF):c.3085+1G>A rs1553555585
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3085+3G>A
NM_001130987.2(DYSF):c.3085+8G>A rs2092345901
NM_001130987.2(DYSF):c.3086-10C>T
NM_001130987.2(DYSF):c.3086-11C>G
NM_001130987.2(DYSF):c.3086-13C>G
NM_001130987.2(DYSF):c.3086-13C>T
NM_001130987.2(DYSF):c.3086-16G>T
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3086-18C>A
NM_001130987.2(DYSF):c.3086-18C>T rs181786284
NM_001130987.2(DYSF):c.3086-2A>G rs2092361815
NM_001130987.2(DYSF):c.3086-4C>T
NM_001130987.2(DYSF):c.3086-7C>T
NM_001130987.2(DYSF):c.3086-9C>A rs185350547
NM_001130987.2(DYSF):c.3087C>T (p.Gly1029=)
NM_001130987.2(DYSF):c.3091del (p.Glu1031fs)
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3093G>A (p.Glu1031=) rs1167647963
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3096T>C (p.Tyr1032=) rs2152815115
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.309T>C (p.Asn103=) rs1231985809
NM_001130987.2(DYSF):c.3107del (p.Ile1036fs)
NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=) rs368033221
NM_001130987.2(DYSF):c.3108C>G (p.Ile1036Met)
NM_001130987.2(DYSF):c.3108C>T (p.Ile1036=)
NM_001130987.2(DYSF):c.3113C>A (p.Pro1038Gln) rs764931697
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs) rs753711667
NM_001130987.2(DYSF):c.3115dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3120G>A (p.Arg1040=)
NM_001130987.2(DYSF):c.3126G>C (p.Pro1042=) rs377235191
NM_001130987.2(DYSF):c.312C>T (p.Ala104=)
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3141T>C (p.Pro1047=) rs780246050
NM_001130987.2(DYSF):c.3144T>C (p.Ala1048=) rs762991691
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu) rs2092366383
NM_001130987.2(DYSF):c.3149A>T (p.Lys1050Met) rs1338389103
NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)
NM_001130987.2(DYSF):c.3155A>G (p.Tyr1052Cys) rs1553556062
NM_001130987.2(DYSF):c.3159C>A (p.Tyr1053Ter)
NM_001130987.2(DYSF):c.315C>A (p.Pro105=)
NM_001130987.2(DYSF):c.315C>G (p.Pro105=)
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3162A>C (p.Thr1054=)
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=) rs369607332
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3167G>C (p.Arg1056Pro)
NM_001130987.2(DYSF):c.3168A>G (p.Arg1056=) rs763654971
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3186C>T (p.Arg1062=) rs1471242249
NM_001130987.2(DYSF):c.3187C>T (p.Leu1063=) rs2152815288
NM_001130987.2(DYSF):c.3189G>A (p.Leu1063=) rs2152815295
NM_001130987.2(DYSF):c.3189G>T (p.Leu1063=) rs2152815295
NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)
NM_001130987.2(DYSF):c.3201T>C (p.Asp1067=)
NM_001130987.2(DYSF):c.3203_3204del (p.Leu1068fs) rs1260279185
NM_001130987.2(DYSF):c.320T>C (p.Leu107Pro) rs2152715793
NM_001130987.2(DYSF):c.3219A>C (p.Ala1073=) rs1353352875
NM_001130987.2(DYSF):c.3219A>G (p.Ala1073=) rs1353352875
NM_001130987.2(DYSF):c.3220C>T (p.Leu1074=)
NM_001130987.2(DYSF):c.3228+10C>A
NM_001130987.2(DYSF):c.3228+10C>T
NM_001130987.2(DYSF):c.3228+17T>C
NM_001130987.2(DYSF):c.3228+1G>A rs2092371566
NM_001130987.2(DYSF):c.3228+1G>C rs2092371566
NM_001130987.2(DYSF):c.3228+7_3228+22dup
NM_001130987.2(DYSF):c.3228+8A>G rs749135257
NM_001130987.2(DYSF):c.3228+8A>T rs749135257
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.3229-14C>T rs1020437649
NM_001130987.2(DYSF):c.3229-16C>T
NM_001130987.2(DYSF):c.3229-5T>C rs794727532
NM_001130987.2(DYSF):c.3229-7T>C rs1462610030
NM_001130987.2(DYSF):c.3229C>G (p.His1077Asp)
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3243G>A (p.Glu1081=)
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3252C>T (p.Gly1084=)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=)
NM_001130987.2(DYSF):c.3257del (p.Gly1086fs)
NM_001130987.2(DYSF):c.3258C>T (p.Gly1086=)
NM_001130987.2(DYSF):c.3273T>G (p.Ser1091=)
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs) rs1574097294
NM_001130987.2(DYSF):c.3275T>C (p.Leu1092Pro)
NM_001130987.2(DYSF):c.3276T>C (p.Leu1092=)
NM_001130987.2(DYSF):c.3279dup (p.Gly1094fs)
NM_001130987.2(DYSF):c.3282C>T (p.Gly1094=)
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter) rs794727534
NM_001130987.2(DYSF):c.3291C>T (p.Phe1097=)
NM_001130987.2(DYSF):c.3295C>T (p.Leu1099Phe) rs770433229
NM_001130987.2(DYSF):c.3297C>G (p.Leu1099=)
NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His) rs369345918
NM_001130987.2(DYSF):c.330G>A (p.Lys110=) rs1573565747
NM_001130987.2(DYSF):c.3312A>G (p.Thr1104=)
NM_001130987.2(DYSF):c.3313G>A (p.Asp1105Asn)
NM_001130987.2(DYSF):c.3315T>C (p.Asp1105=)
NM_001130987.2(DYSF):c.3322C>A (p.Arg1108Ser)
NM_001130987.2(DYSF):c.3322CGC[3] (p.Arg1111del) rs779680055
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3324C>T (p.Arg1108=) rs2152823096
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys) rs765271624
NM_001130987.2(DYSF):c.3330C>A (p.Arg1110=) rs2152823127
NM_001130987.2(DYSF):c.3332G>T (p.Arg1111Leu)
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3334_3345del (p.Trp1112_Arg1115del)
NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)
NM_001130987.2(DYSF):c.3336del (p.Trp1112fs)
NM_001130987.2(DYSF):c.3337C>A (p.Arg1113Ser)
NM_001130987.2(DYSF):c.3337C>G (p.Arg1113Gly) rs141536854
NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3350A>G (p.Glu1117Gly) rs2152823191
NM_001130987.2(DYSF):c.3354A>G (p.Pro1118=) rs1235233076
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3363G>A (p.Lys1121=)
NM_001130987.2(DYSF):c.3366G>C (p.Thr1122=) rs149986783
NM_001130987.2(DYSF):c.336G>A (p.Gln112=) rs2152715817
NM_001130987.2(DYSF):c.3375A>G (p.Ala1125=) rs1574098655
NM_001130987.2(DYSF):c.3387C>T (p.Ala1129=)
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
NM_001130987.2(DYSF):c.3396G>A (p.Gly1132=)
NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=)
NM_001130987.2(DYSF):c.3397G>A (p.Ala1133Thr)
NM_001130987.2(DYSF):c.3398C>T (p.Ala1133Val)
NM_001130987.2(DYSF):c.3399C>T (p.Ala1133=)
NM_001130987.2(DYSF):c.339C>T (p.Pro113=) rs1432668893
NM_001130987.2(DYSF):c.3402+10G>A
NM_001130987.2(DYSF):c.3402+13G>A
NM_001130987.2(DYSF):c.3402+14C>T
NM_001130987.2(DYSF):c.3402+1G>A
NM_001130987.2(DYSF):c.3402+9G>A rs533984377
NM_001130987.2(DYSF):c.3403-109_3436del
NM_001130987.2(DYSF):c.3403-11C>T
NM_001130987.2(DYSF):c.3403-13T>C
NM_001130987.2(DYSF):c.3403-14C>T
NM_001130987.2(DYSF):c.3403-16A>G
NM_001130987.2(DYSF):c.3403-17C>G
NM_001130987.2(DYSF):c.3403-17C>T rs2152842383
NM_001130987.2(DYSF):c.3403-20A>G
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3406G>T (p.Gly1136Cys) rs202000264
NM_001130987.2(DYSF):c.3407del (p.Gly1136fs)
NM_001130987.2(DYSF):c.341C>T (p.Thr114Ile)
NM_001130987.2(DYSF):c.341del (p.Thr114fs)
NM_001130987.2(DYSF):c.3423G>A (p.Lys1141=)
NM_001130987.2(DYSF):c.3425G>A (p.Ser1142Asn)
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3435C>T (p.Ser1145=)
NM_001130987.2(DYSF):c.3436A>T (p.Met1146Leu)
NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)
NM_001130987.2(DYSF):c.3441C>G (p.Ser1147=)
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.344G>T (p.Gly115Val)
NM_001130987.2(DYSF):c.345+11A>G
NM_001130987.2(DYSF):c.345+11A>T
NM_001130987.2(DYSF):c.345+12T>C
NM_001130987.2(DYSF):c.345+13C>T
NM_001130987.2(DYSF):c.345+15G>A
NM_001130987.2(DYSF):c.345+17C>G
NM_001130987.2(DYSF):c.345+1G>A
NM_001130987.2(DYSF):c.345+1G>C
NM_001130987.2(DYSF):c.345+1G>T rs2152715844
NM_001130987.2(DYSF):c.345+2T>C rs2152715847
NM_001130987.2(DYSF):c.345+7G>T
NM_001130987.2(DYSF):c.3450C>T (p.Thr1150=) rs2152842489
NM_001130987.2(DYSF):c.3453G>A (p.Leu1151=)
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.346-10T>C
NM_001130987.2(DYSF):c.346-14C>T
NM_001130987.2(DYSF):c.346-17C>G rs370498369
NM_001130987.2(DYSF):c.346-19C>A
NM_001130987.2(DYSF):c.346-2A>C
NM_001130987.2(DYSF):c.346-7C>G
NM_001130987.2(DYSF):c.346-8T>G
NM_001130987.2(DYSF):c.3461G>A (p.Gly1154Asp)
NM_001130987.2(DYSF):c.3469A>C (p.Arg1157=) rs2152842518
NM_001130987.2(DYSF):c.3474C>T (p.Pro1158=)
NM_001130987.2(DYSF):c.3477G>T (p.Thr1159=)
NM_001130987.2(DYSF):c.3480T>C (p.Ile1160=) rs768564735
NM_001130987.2(DYSF):c.3484T>C (p.Cys1162Arg) rs1353308560
NM_001130987.2(DYSF):c.3489A>T (p.Ile1163=)
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3496+12T>C
NM_001130987.2(DYSF):c.3496+18G>C
NM_001130987.2(DYSF):c.3496+20C>T
NM_001130987.2(DYSF):c.3496+8A>C
NM_001130987.2(DYSF):c.3496T>C (p.Tyr1166His) rs2152842558
NM_001130987.2(DYSF):c.3497-10C>A
NM_001130987.2(DYSF):c.3497-10C>G rs1399992374
NM_001130987.2(DYSF):c.3497-10C>T rs1399992374
NM_001130987.2(DYSF):c.3497-13T>A
NM_001130987.2(DYSF):c.3497-13dup
NM_001130987.2(DYSF):c.3497-19G>A
NM_001130987.2(DYSF):c.3497-5T>C
NM_001130987.2(DYSF):c.3497-5del rs2152843358
NM_001130987.2(DYSF):c.3498T>C (p.Tyr1166=) rs758944159
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.3501G>C (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3508T>C (p.Tyr1170His) rs749405808
NM_001130987.2(DYSF):c.3510C>T (p.Tyr1170=)
NM_001130987.2(DYSF):c.3512A>G (p.His1171Arg)
NM_001130987.2(DYSF):c.3514C>T (p.Leu1172=)
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3519C>T (p.Arg1173=)
NM_001130987.2(DYSF):c.3522C>T (p.Cys1174=)
NM_001130987.2(DYSF):c.3526A>G (p.Met1176Val)
NM_001130987.2(DYSF):c.3534G>A (p.Gln1178=)
NM_001130987.2(DYSF):c.3537C>T (p.Ala1179=)
NM_001130987.2(DYSF):c.3538C>A (p.Arg1180=)
NM_001130987.2(DYSF):c.3540G>A (p.Arg1180=)
NM_001130987.2(DYSF):c.3540_3541del (p.Asp1181fs) rs2152843443
NM_001130987.2(DYSF):c.3546G>A (p.Leu1182=)
NM_001130987.2(DYSF):c.354G>A (p.Leu118=)
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3556G>A (p.Asp1186Asn)
NM_001130987.2(DYSF):c.3561G>A (p.Lys1187=)
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.3574+14A>G
NM_001130987.2(DYSF):c.3574+15G>A
NM_001130987.2(DYSF):c.3574+15G>C
NM_001130987.2(DYSF):c.3574+16G>C
NM_001130987.2(DYSF):c.3574+1G>A rs2152843484
NM_001130987.2(DYSF):c.3575-10G>A rs1293988031
NM_001130987.2(DYSF):c.3575-15C>T
NM_001130987.2(DYSF):c.3575-16_3575-7del rs2093461917
NM_001130987.2(DYSF):c.3575-17C>A
NM_001130987.2(DYSF):c.3575-17C>G
NM_001130987.2(DYSF):c.3575-18C>G
NM_001130987.2(DYSF):c.3575-18C>T rs376861951
NM_001130987.2(DYSF):c.3575-1G>A rs2093462674
NM_001130987.2(DYSF):c.3575-1G>C
NM_001130987.2(DYSF):c.3575-2A>G rs2152855735
NM_001130987.2(DYSF):c.3575-5T>C rs2093462575
NM_001130987.2(DYSF):c.3575-6A>G
NM_001130987.2(DYSF):c.3575-6A>T
NM_001130987.2(DYSF):c.3575-7C>T
NM_001130987.2(DYSF):c.3575-9C>T
NM_001130987.2(DYSF):c.357C>A (p.Val119=)
NM_001130987.2(DYSF):c.357C>G (p.Val119=)
NM_001130987.2(DYSF):c.3585C>T (p.Ala1195=)
NM_001130987.2(DYSF):c.3588C>A (p.Ile1196=)
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3589G>A (p.Val1197Ile)
NM_001130987.2(DYSF):c.3591C>T (p.Val1197=)
NM_001130987.2(DYSF):c.3594C>A (p.Ser1198=)
NM_001130987.2(DYSF):c.3594C>T (p.Ser1198=) rs2093463237
NM_001130987.2(DYSF):c.359T>C (p.Leu120Pro)
NM_001130987.2(DYSF):c.3603C>T (p.His1201=)
NM_001130987.2(DYSF):c.360G>A (p.Leu120=)
NM_001130987.2(DYSF):c.3617C>T (p.Thr1206Met)
NM_001130987.2(DYSF):c.3618G>A (p.Thr1206=) rs913686558
NM_001130987.2(DYSF):c.3618G>C (p.Thr1206=) rs913686558
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter) rs1423123313
NM_001130987.2(DYSF):c.3621G>A (p.Val1207=)
NM_001130987.2(DYSF):c.3624G>A (p.Val1208=)
NM_001130987.2(DYSF):c.3627G>A (p.Val1209=)
NM_001130987.2(DYSF):c.3634A>C (p.Thr1212Pro)
NM_001130987.2(DYSF):c.3642C>T (p.Asn1214=)
NM_001130987.2(DYSF):c.3648del (p.Trp1217fs)
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3660G>T (p.Thr1220=) rs139897804
NM_001130987.2(DYSF):c.3673G>A (p.Glu1225Lys) rs773703042
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>A (p.Glu1227Lys)
NM_001130987.2(DYSF):c.3695C>G (p.Pro1232Arg)
NM_001130987.2(DYSF):c.369C>G (p.Ser123=)
NM_001130987.2(DYSF):c.3702A>C (p.Thr1234=) rs2093465610
NM_001130987.2(DYSF):c.3708T>C (p.Ala1236=)
NM_001130987.2(DYSF):c.3717G>T (p.Pro1239=) rs150444588
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3720C>T (p.Pro1240=)
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3726T>C (p.Ile1242=) rs767498919
NM_001130987.2(DYSF):c.3732G>A (p.Val1244=) rs1301694427
NM_001130987.2(DYSF):c.3736C>T (p.Leu1246=)
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.3738G>A (p.Leu1246=) rs780022977
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter) rs375160101
NM_001130987.2(DYSF):c.3744C>T (p.Asp1248=)
NM_001130987.2(DYSF):c.3750C>T (p.Asp1250=)
NM_001130987.2(DYSF):c.3756+17C>T
NM_001130987.2(DYSF):c.3756+18C>T
NM_001130987.2(DYSF):c.3756+5G>A rs2093467146
NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter) rs141720146
NM_001130987.2(DYSF):c.3757-18T>C
NM_001130987.2(DYSF):c.3757-19C>G
NM_001130987.2(DYSF):c.3757-19C>T
NM_001130987.2(DYSF):c.3757-4C>A rs2152858725
NM_001130987.2(DYSF):c.3757-4C>T rs2152858725
NM_001130987.2(DYSF):c.3759T>G (p.Gly1253=)
NM_001130987.2(DYSF):c.375A>T (p.Thr125=)
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3768G>A (p.Glu1256=) rs1574276347
NM_001130987.2(DYSF):c.3772A>G (p.Met1258Val)
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs) rs1558583697
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3798T>C (p.Ser1266=) rs2152858798
NM_001130987.2(DYSF):c.3801G>A (p.Leu1267=) rs2152858802
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)
NM_001130987.2(DYSF):c.3807G>A (p.Arg1269=)
NM_001130987.2(DYSF):c.3809T>C (p.Met1270Thr)
NM_001130987.2(DYSF):c.3816G>T (p.Arg1272=)
NM_001130987.2(DYSF):c.3819G>A (p.Leu1273=)
NM_001130987.2(DYSF):c.381G>A (p.Leu127=)
NM_001130987.2(DYSF):c.3829C>T (p.Pro1277Ser) rs2093531034
NM_001130987.2(DYSF):c.3831A>G (p.Pro1277=)
NM_001130987.2(DYSF):c.3836C>A (p.Thr1279Lys) rs202013788
NM_001130987.2(DYSF):c.3837G>A (p.Thr1279=) rs780431455
NM_001130987.2(DYSF):c.3837G>T (p.Thr1279=) rs780431455
NM_001130987.2(DYSF):c.3838A>C (p.Arg1280=) rs749714780
NM_001130987.2(DYSF):c.3840G>A (p.Arg1280=) rs2152858882
NM_001130987.2(DYSF):c.3842del (p.Gly1281fs) rs2093531358
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)
NM_001130987.2(DYSF):c.3849G>A (p.Gln1283=)
NM_001130987.2(DYSF):c.3852G>T (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3854C>T (p.Ser1285Leu)
NM_001130987.2(DYSF):c.3855G>A (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3855G>T (p.Ser1285=) rs765136335
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg) rs2093531900
NM_001130987.2(DYSF):c.3859_3860delinsAT (p.Glu1287Met)
NM_001130987.2(DYSF):c.3859del (p.Glu1287fs)
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.3861G>A (p.Glu1287=) rs2152858929
NM_001130987.2(DYSF):c.3863T>C (p.Leu1288Pro) rs886042828
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg) rs886042828
NM_001130987.2(DYSF):c.3876T>C (p.Phe1292=) rs767082608
NM_001130987.2(DYSF):c.3879G>A (p.Glu1293=) rs2152858959
NM_001130987.2(DYSF):c.3885C>T (p.Ile1295=)
NM_001130987.2(DYSF):c.3887A>G (p.Gln1296Arg)
NM_001130987.2(DYSF):c.388G>A (p.Ala130Thr) rs1449509021
NM_001130987.2(DYSF):c.3897+10del rs2152859007
NM_001130987.2(DYSF):c.3897+14A>G
NM_001130987.2(DYSF):c.3897+15T>C
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3897+1G>T
NM_001130987.2(DYSF):c.3898-10_3898-9insGAT rs775213642
NM_001130987.2(DYSF):c.3898-11C>T
NM_001130987.2(DYSF):c.3898-15T>C
NM_001130987.2(DYSF):c.3898-16C>A
NM_001130987.2(DYSF):c.3898-19T>A rs2152859948
NM_001130987.2(DYSF):c.3898-19T>C
NM_001130987.2(DYSF):c.3898-1G>C rs2152859973
NM_001130987.2(DYSF):c.3898-2A>C rs989599402
NM_001130987.2(DYSF):c.3898-3C>T
NM_001130987.2(DYSF):c.3898-4C>T rs555206040
NM_001130987.2(DYSF):c.3898-5T>G rs2152859964
NM_001130987.2(DYSF):c.3898-7A>C
NM_001130987.2(DYSF):c.3898-7A>G
NM_001130987.2(DYSF):c.3898-8C>T
NM_001130987.2(DYSF):c.389del (p.Ala130fs)
NM_001130987.2(DYSF):c.3906C>T (p.Ile1302=) rs754355332
NM_001130987.2(DYSF):c.3912T>C (p.His1304=) rs2093550929
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.391G>C (p.Val131Leu)
NM_001130987.2(DYSF):c.3927+10G>C
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3928-19T>A
NM_001130987.2(DYSF):c.3928-2A>G rs2152861747
NM_001130987.2(DYSF):c.3934G>A (p.Glu1312Lys)
NM_001130987.2(DYSF):c.3935A>G (p.Glu1312Gly) rs2093576892
NM_001130987.2(DYSF):c.3948C>T (p.Ile1316=) rs2093577208
NM_001130987.2(DYSF):c.3957+10G>A
NM_001130987.2(DYSF):c.3957+11C>T
NM_001130987.2(DYSF):c.3957+12G>A
NM_001130987.2(DYSF):c.3957+14G>A
NM_001130987.2(DYSF):c.3957+15G>A
NM_001130987.2(DYSF):c.3957+1G>A
NM_001130987.2(DYSF):c.3957+20dup
NM_001130987.2(DYSF):c.3957+2T>G rs1553377764
NM_001130987.2(DYSF):c.3957+7T>C rs2152861837
NM_001130987.2(DYSF):c.3957+8G>T
NM_001130987.2(DYSF):c.3957+9G>A rs794727590
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=) rs781449138
NM_001130987.2(DYSF):c.3958-13C>A
NM_001130987.2(DYSF):c.3958-13C>G rs1417797236
NM_001130987.2(DYSF):c.3958-1G>A
NM_001130987.2(DYSF):c.3958-5T>C rs758255732
NM_001130987.2(DYSF):c.3958-6C>A rs568840196
NM_001130987.2(DYSF):c.3958-6C>T
NM_001130987.2(DYSF):c.3958-8C>T
NM_001130987.2(DYSF):c.3958-8del rs2152874678
NM_001130987.2(DYSF):c.3972C>T (p.Asp1324=)
NM_001130987.2(DYSF):c.3975G>A (p.Leu1325=)
NM_001130987.2(DYSF):c.3975G>C (p.Leu1325=) rs2152874732
NM_001130987.2(DYSF):c.3976C>T (p.Pro1326Ser)
NM_001130987.2(DYSF):c.3978C>T (p.Pro1326=)
NM_001130987.2(DYSF):c.3994A>C (p.Arg1332=) rs1293876957
NM_001130987.2(DYSF):c.3999G>A (p.Glu1333=)
NM_001130987.2(DYSF):c.399G>A (p.Leu133=) rs1258988203
NM_001130987.2(DYSF):c.4008C>A (p.Ile1336=)
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter) rs147950418
NM_001130987.2(DYSF):c.4023G>A (p.Gln1341=)
NM_001130987.2(DYSF):c.4025A>C (p.Asn1342Thr)
NM_001130987.2(DYSF):c.4032G>A (p.Lys1344=)
NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe)
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.404_416del (p.Pro135fs) rs2152728683
NM_001130987.2(DYSF):c.4053C>T (p.Ala1351=) rs964824166
NM_001130987.2(DYSF):c.4054A>G (p.Ile1352Val)
NM_001130987.2(DYSF):c.4056C>T (p.Ile1352=)
NM_001130987.2(DYSF):c.4059+12G>A
NM_001130987.2(DYSF):c.4059+16C>G
NM_001130987.2(DYSF):c.4059+17T>C
NM_001130987.2(DYSF):c.4059+1G>A rs1229707459
NM_001130987.2(DYSF):c.4059+3G>A
NM_001130987.2(DYSF):c.4059+7C>A rs562567295
NM_001130987.2(DYSF):c.4059+7_4059+8del rs2152874917
NM_001130987.2(DYSF):c.4059+9del rs2152874922
NM_001130987.2(DYSF):c.4060-10G>T rs1464571468
NM_001130987.2(DYSF):c.4060-12C>T
NM_001130987.2(DYSF):c.4060-14T>C rs1240369237
NM_001130987.2(DYSF):c.4060-16C>T
NM_001130987.2(DYSF):c.4060-17T>G
NM_001130987.2(DYSF):c.4060-18C>T
NM_001130987.2(DYSF):c.4060-19C>T rs2152875131
NM_001130987.2(DYSF):c.4063C>T (p.Leu1355=) rs2152875185
NM_001130987.2(DYSF):c.4071G>A (p.Trp1357Ter) rs1424374529
NM_001130987.2(DYSF):c.4077G>A (p.Leu1359=) rs1403408041
NM_001130987.2(DYSF):c.4078C>A (p.Arg1360=) rs199870606
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.4086G>C (p.Met1362Ile) rs2152875227
NM_001130987.2(DYSF):c.4089G>A (p.Lys1363=)
NM_001130987.2(DYSF):c.408C>G (p.Pro136=)
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.4093T>G (p.Tyr1365Asp)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.410dup (p.Thr138fs) rs886043342
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4112C>T (p.Ser1371Phe)
NM_001130987.2(DYSF):c.4113C>A (p.Ser1371=) rs2152875258
NM_001130987.2(DYSF):c.4114del (p.Ser1372fs) rs2093761171
NM_001130987.2(DYSF):c.4119C>A (p.Pro1373=) rs775855517
NM_001130987.2(DYSF):c.411T>A (p.Pro137=)
NM_001130987.2(DYSF):c.4129G>A (p.Val1377Ile)
NM_001130987.2(DYSF):c.4141_4142del (p.Gly1381fs)
NM_001130987.2(DYSF):c.4142dup (p.Gln1382fs)
NM_001130987.2(DYSF):c.4149G>T (p.Thr1383=)
NM_001130987.2(DYSF):c.4152G>A (p.Val1384=)
NM_001130987.2(DYSF):c.4152G>C (p.Val1384=) rs757771727
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.4164C>G (p.Val1388=) rs2152875382
NM_001130987.2(DYSF):c.4167C>T (p.Ile1389=) rs2152875387
NM_001130987.2(DYSF):c.4170G>A (p.Arg1390=) rs746181078
NM_001130987.2(DYSF):c.4173C>A (p.Asn1391Lys)
NM_001130987.2(DYSF):c.4176C>T (p.Leu1392=) rs2152875405
NM_001130987.2(DYSF):c.4177del (p.Arg1393fs) rs2152875407
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
NM_001130987.2(DYSF):c.417T>G (p.Pro139=)
NM_001130987.2(DYSF):c.4185C>T (p.Asn1395=)
NM_001130987.2(DYSF):c.4188del (p.Asn1397fs)
NM_001130987.2(DYSF):c.4191C>T (p.Asn1397=)
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser) rs2093763492
NM_001130987.2(DYSF):c.4197C>T (p.Asp1399=)
NM_001130987.2(DYSF):c.4200C>T (p.Ile1400=)
NM_001130987.2(DYSF):c.4203C>T (p.Cys1401=)
NM_001130987.2(DYSF):c.4206C>T (p.Thr1402=)
NM_001130987.2(DYSF):c.4218A>T (p.Glu1406Asp) rs764161356
NM_001130987.2(DYSF):c.4221+18A>G
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4221+1G>T
NM_001130987.2(DYSF):c.4221+1_4221+3del rs1189803641
NM_001130987.2(DYSF):c.4221+8C>T rs2152875508
NM_001130987.2(DYSF):c.4221+9C>T
NM_001130987.2(DYSF):c.4222-11C>G
NM_001130987.2(DYSF):c.4222-11C>T
NM_001130987.2(DYSF):c.4222-6A>T rs745775405
NM_001130987.2(DYSF):c.4228C>T (p.Pro1410Ser)
NM_001130987.2(DYSF):c.4239G>A (p.Glu1413=)
NM_001130987.2(DYSF):c.423G>A (p.Glu141=)
NM_001130987.2(DYSF):c.4242C>G (p.Leu1414=) rs952978128
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.4245C>T (p.Tyr1415=) rs2152876950
NM_001130987.2(DYSF):c.4247G>A (p.Cys1416Tyr)
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4248C>T (p.Cys1416=) rs971134497
NM_001130987.2(DYSF):c.4249C>G (p.Pro1417Ala) rs376134165
NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser) rs151268930
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.4254C>A (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4254C>G (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4263C>T (p.Val1421=) rs1368093680
NM_001130987.2(DYSF):c.4266G>T (p.Lys1422Asn)
NM_001130987.2(DYSF):c.4269C>T (p.Val1423=)
NM_001130987.2(DYSF):c.426C>G (p.Pro142=) rs2152728724
NM_001130987.2(DYSF):c.4272C>A (p.Ile1424=) rs1465648654
NM_001130987.2(DYSF):c.4272C>T (p.Ile1424=) rs1465648654
NM_001130987.2(DYSF):c.427T>A (p.Ser143Thr)
NM_001130987.2(DYSF):c.4280G>T (p.Arg1427Leu)
NM_001130987.2(DYSF):c.4281C>A (p.Arg1427=)
NM_001130987.2(DYSF):c.4284G>A (p.Gln1428=)
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.2(DYSF):c.4296G>A (p.Arg1432=)
NM_001130987.2(DYSF):c.4308C>T (p.Gly1436=)
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.4323C>A (p.Arg1441=) rs758538165
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys) rs1454165770
NM_001130987.2(DYSF):c.4325_4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.4326C>T (p.Ser1442=)
NM_001130987.2(DYSF):c.4327C>T (p.Leu1443=)
NM_001130987.2(DYSF):c.432G>C (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.432G>T (p.Pro144=) rs542176164
NM_001130987.2(DYSF):c.4331A>C (p.Glu1444Ala)
NM_001130987.2(DYSF):c.4335C>T (p.Ser1445=)
NM_001130987.2(DYSF):c.4339C>T (p.Leu1447=)
NM_001130987.2(DYSF):c.4344T>C (p.Cys1448=) rs2152877131
NM_001130987.2(DYSF):c.4344_4345del (p.Cys1448_Asp1449delinsTer)
NM_001130987.2(DYSF):c.4349C>A (p.Pro1450His)
NM_001130987.2(DYSF):c.4350C>T (p.Pro1450=) rs897596810
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.4362G>A (p.Glu1454=)
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4368A>T (p.Pro1456=)
NM_001130987.2(DYSF):c.436C>T (p.Leu146=) rs1291278789
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=) rs886043896
NM_001130987.2(DYSF):c.4377G>C (p.Gln1459His)
NM_001130987.2(DYSF):c.4382_4383delinsTT (p.Gly1461Val)
NM_001130987.2(DYSF):c.4387+11G>C
NM_001130987.2(DYSF):c.4387+13dup
NM_001130987.2(DYSF):c.4387+15G>A
NM_001130987.2(DYSF):c.4387+16_4387+42del rs750290973
NM_001130987.2(DYSF):c.4387+20T>C
NM_001130987.2(DYSF):c.4387+2T>G
NM_001130987.2(DYSF):c.4387+8A>G rs2093795894
NM_001130987.2(DYSF):c.4388-12C>T
NM_001130987.2(DYSF):c.4388-13C>G
NM_001130987.2(DYSF):c.4388-15C>T
NM_001130987.2(DYSF):c.4388-16G>T
NM_001130987.2(DYSF):c.4388-17G>A rs1228239502
NM_001130987.2(DYSF):c.4388-5T>C
NM_001130987.2(DYSF):c.4388-7C>A rs1209019931
NM_001130987.2(DYSF):c.4388-7C>G
NM_001130987.2(DYSF):c.4388-9C>A
NM_001130987.2(DYSF):c.438G>A (p.Leu146=)
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn) rs927765259
NM_001130987.2(DYSF):c.4395G>C (p.Val1465=)
NM_001130987.2(DYSF):c.4399C>T (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>C (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>G (p.Leu1467=)
NM_001130987.2(DYSF):c.4401A>T (p.Leu1467=) rs2093810606
NM_001130987.2(DYSF):c.4404C>G (p.Leu1468=) </