ClinVar Miner

List of variants reported as likely benign for Qualitative or quantitative defects of dysferlin

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1992
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06522
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04117
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03329
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.*199T>G rs13429381 0.02954
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02494
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02090
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01615
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00920
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00256
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00189
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00155
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00138
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
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.1447A>G (p.Met483Val) rs141818764 0.00105
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
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.6174-9C>T rs201070766 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414 0.00059
NM_001130987.2(DYSF):c.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.5143G>T (p.Ala1715Ser) rs141137410 0.00049
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00047
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 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.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 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.4143C>T (p.Gly1381=) rs145412880 0.00032
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322 0.00027
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00025
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00025
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.3695C>T (p.Pro1232Leu) rs150942486 0.00022
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00022
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942 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.1450-15C>T rs376442287 0.00020
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430 0.00018
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser) rs766512164 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00017
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.5424C>T (p.Pro1808=) rs137855767 0.00017
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00016
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=) rs149989207 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.460+13C>T rs913978542 0.00015
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00015
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00015
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
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.5010C>T (p.Phe1670=) rs151276652 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 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.3114G>A (p.Pro1038=) rs398123778 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.1002+18A>G rs112286757 0.00011
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) rs185891286 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.337C>T (p.Pro113Ser) rs753922932 0.00011
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077 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.2068A>T (p.Ile690Phe) rs367901920 0.00010
NM_001130987.2(DYSF):c.747G>A (p.Pro249=) rs751402861 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.1276+14G>A rs368724695 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 0.00009
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411 0.00009
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.3229-6G>C rs201993768 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 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.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001130987.2(DYSF):c.5693G>A (p.Arg1898His) rs143939123 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.1577-1699C>T rs183489578 0.00008
NM_001130987.2(DYSF):c.1632T>C (p.Tyr544=) rs1296743118 0.00008
NM_001130987.2(DYSF):c.1692+13G>C rs368874059 0.00008
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) rs771062534 0.00008
NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly) rs374204501 0.00008
NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His) rs368462679 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00008
NM_001130987.2(DYSF):c.3086-19C>A rs199596218 0.00008
NM_001130987.2(DYSF):c.345+17C>G rs374839593 0.00008
NM_001130987.2(DYSF):c.4059+11C>T rs759874787 0.00008
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00007
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=) rs370872013 0.00007
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00007
NM_001130987.2(DYSF):c.1985-16C>T rs377533029 0.00007
NM_001130987.2(DYSF):c.239+15G>C rs376711978 0.00007
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 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.3883A>C (p.Ile1295Leu) rs555343068 0.00007
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00007
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=) rs779669549 0.00006
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.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.2217-20C>T rs374013027 0.00006
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) rs200422222 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.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.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) rs142265349 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.828C>T (p.Thr276=) rs376154300 0.00006
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00005
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys) rs752848496 0.00005
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00005
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 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.2979+12A>T rs370214570 0.00005
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 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.3497-19G>A rs373805427 0.00005
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys) rs372297758 0.00005
NM_001130987.2(DYSF):c.3717G>A (p.Pro1239=) rs150444588 0.00005
NM_001130987.2(DYSF):c.3757-11G>A rs375151143 0.00005
NM_001130987.2(DYSF):c.3939A>G (p.Thr1313=) rs763332737 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001130987.2(DYSF):c.4755+16C>T rs371887737 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886 0.00005
NM_001130987.2(DYSF):c.6174-17C>T rs201935370 0.00005
NM_001130987.2(DYSF):c.6234G>A (p.Leu2078=) rs376588911 0.00005
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00005
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939 0.00005
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 0.00005
NM_001130987.2(DYSF):c.848G>A (p.Arg283Gln) rs372512141 0.00005
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 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.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.1965C>T (p.Tyr655=) rs759841019 0.00004
NM_001130987.2(DYSF):c.2166C>T (p.Asp722=) rs766639423 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.240-7C>T rs746083673 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.3000C>A (p.Pro1000=) rs368460619 0.00004
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171 0.00004
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=) rs377235191 0.00004
NM_001130987.2(DYSF):c.3171G>A (p.Arg1057=) rs200311551 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.3436A>T (p.Met1146Leu) rs779634847 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.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.3870C>T (p.Ala1290=) rs778341042 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.4388-13C>G rs758225487 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.5458-18C>T rs751028464 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 0.00004
NM_001130987.2(DYSF):c.6342G>A (p.Leu2114=) rs766435391 0.00004
NM_001130987.2(DYSF):c.766G>A (p.Val256Ile) rs145360241 0.00004
NM_001130987.2(DYSF):c.906G>A (p.Leu302=) rs916319528 0.00004
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=) rs778686949 0.00003
NM_001130987.2(DYSF):c.1165C>T (p.Pro389Ser) rs765807687 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.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.1450-19G>A rs763729603 0.00003
NM_001130987.2(DYSF):c.1450-20C>T rs762342962 0.00003
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=) rs180970066 0.00003
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00003
NM_001130987.2(DYSF):c.1749G>A (p.Val583=) rs758674748 0.00003
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009 0.00003
NM_001130987.2(DYSF):c.1984+14C>T rs368233164 0.00003
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00003
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) rs749488054 0.00003
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00003
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=) rs145868833 0.00003
NM_001130987.2(DYSF):c.239+17G>C rs757432005 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.2979+20G>T rs1284001719 0.00003
NM_001130987.2(DYSF):c.3165C>T (p.His1055=) rs745672090 0.00003
NM_001130987.2(DYSF):c.3240G>A (p.Ala1080=) rs759829047 0.00003
NM_001130987.2(DYSF):c.3252C>T (p.Gly1084=) rs757469563 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.3496+12T>C rs772687190 0.00003
NM_001130987.2(DYSF):c.3614A>G (p.Lys1205Arg) rs757123788 0.00003
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=) rs139364929 0.00003
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) rs556134001 0.00003
NM_001130987.2(DYSF):c.3854C>T (p.Ser1285Leu) rs759487846 0.00003
NM_001130987.2(DYSF):c.3957+11C>T rs376091128 0.00003
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 0.00003
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=) rs751571463 0.00003
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00003
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00003
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=) rs555086420 0.00003
NM_001130987.2(DYSF):c.4242C>T (p.Leu1414=) rs952978128 0.00003
NM_001130987.2(DYSF):c.4388-15C>T rs747829278 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.4590C>T (p.Cys1530=) rs778185705 0.00003
NM_001130987.2(DYSF):c.4703G>A (p.Arg1568Gln) rs191383034 0.00003
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372 0.00003
NM_001130987.2(DYSF):c.4755+10C>T rs139099979 0.00003
NM_001130987.2(DYSF):c.4755+20C>T rs768409399 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.5174+14G>A rs531408610 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.5451C>T (p.Ile1817=) rs727503913 0.00003
NM_001130987.2(DYSF):c.5546+20G>A rs747092306 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.5697C>T (p.Ser1899=) rs576040501 0.00003
NM_001130987.2(DYSF):c.5785-15C>A rs751268658 0.00003
NM_001130987.2(DYSF):c.5899G>A (p.Asp1967Asn) rs1187492720 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.6105G>A (p.Glu2035=) rs373445062 0.00003
NM_001130987.2(DYSF):c.6134G>A (p.Arg2045Gln) rs539697079 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.635C>T (p.Pro212Leu) rs761985420 0.00003
NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg) rs769802282 0.00003
NM_001130987.2(DYSF):c.759+9C>T rs761537567 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.889-6C>T rs370223980 0.00003
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00003
NM_003494.4(DYSF):c.46G>C (p.Asp16His) rs140603487 0.00003
NM_001130987.2(DYSF):c.1149+17G>A rs760153119 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.1544C>T (p.Ser515Leu) rs139258703 0.00002
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00002
NM_001130987.2(DYSF):c.1806+7G>A rs758951311 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=) rs768043804 0.00002
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=) rs746480529 0.00002
NM_001130987.2(DYSF):c.2086C>T (p.Leu696=) rs781763520 0.00002
NM_001130987.2(DYSF):c.2110-12C>T rs1405351765 0.00002
NM_001130987.2(DYSF):c.2134C>T (p.Leu712=) rs985675157 0.00002
NM_001130987.2(DYSF):c.2231A>T (p.Asp744Val) rs552533697 0.00002
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val) rs772008300 0.00002
NM_001130987.2(DYSF):c.2565+20A>T rs376086804 0.00002
NM_001130987.2(DYSF):c.2571G>A (p.Pro857=) rs200494473 0.00002
NM_001130987.2(DYSF):c.2698-15T>G rs375513060 0.00002
NM_001130987.2(DYSF):c.2718G>A (p.Leu906=) rs754212872 0.00002
NM_001130987.2(DYSF):c.2722C>T (p.Leu908Phe) rs141264366 0.00002
NM_001130987.2(DYSF):c.2772C>T (p.Asp924=) rs772806555 0.00002
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met) rs571178452 0.00002
NM_001130987.2(DYSF):c.2847C>T (p.Phe949=) rs146006518 0.00002
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) rs535367520 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.3141T>G (p.Pro1047=) rs780246050 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.3402+19G>A rs1026555167 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.346-14C>T rs939195727 0.00002
NM_001130987.2(DYSF):c.3497-20T>C rs1394263273 0.00002
NM_001130987.2(DYSF):c.358C>T (p.Leu120=) rs892412351 0.00002
NM_001130987.2(DYSF):c.3660G>A (p.Thr1220=) rs139897804 0.00002
NM_001130987.2(DYSF):c.3757-17C>T rs757864395 0.00002
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln) rs759192836 0.00002
NM_001130987.2(DYSF):c.3809T>C (p.Met1270Thr) rs373421559 0.00002
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) rs535831045 0.00002
NM_001130987.2(DYSF):c.3957+15G>A rs771858842 0.00002
NM_001130987.2(DYSF):c.409C>T (p.Pro137Ser) rs761301098 0.00002
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=) rs547886773 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00002
NM_001130987.2(DYSF):c.4528-6A>G rs775423013 0.00002
NM_001130987.2(DYSF):c.4571T>C (p.Ile1524Thr) rs559940171 0.00002
NM_001130987.2(DYSF):c.4755+11G>A rs372900372 0.00002
NM_001130987.2(DYSF):c.4755+19C>G rs368894620 0.00002
NM_001130987.2(DYSF):c.4911+15G>A rs972101929 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.5183C>T (p.Pro1728Leu) rs542182076 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.5457+10T>G rs374469230 0.00002
NM_001130987.2(DYSF):c.5526C>T (p.Ile1842=) rs375696757 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.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001130987.2(DYSF):c.6058C>T (p.Leu2020=) rs760685520 0.00002
NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val) rs758523519 0.00002
NM_001130987.2(DYSF):c.6174-12T>G rs760257417 0.00002
NM_001130987.2(DYSF):c.6174-16G>A rs772651879 0.00002
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001130987.2(DYSF):c.627C>T (p.Ser209=) rs780331854 0.00002
NM_001130987.2(DYSF):c.6321+16G>A rs762372003 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.6322-8C>T rs779765738 0.00002
NM_001130987.2(DYSF):c.677C>A (p.Pro226Gln) rs201980470 0.00002
NM_001130987.2(DYSF):c.760-12T>G rs1235691658 0.00002
NM_001130987.2(DYSF):c.774G>A (p.Val258=) rs201797348 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.889-20T>C rs1454317888 0.00002
NM_001130987.2(DYSF):c.951+20G>A rs370936168 0.00002
NM_001130987.2(DYSF):c.1002+14T>C rs1486233924 0.00001
NM_001130987.2(DYSF):c.1002+15T>C rs529992457 0.00001
NM_001130987.2(DYSF):c.1002+8C>T rs753577400 0.00001
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.1003-12C>T rs765167960 0.00001
NM_001130987.2(DYSF):c.1003-14C>G rs759378851 0.00001
NM_001130987.2(DYSF):c.1003-17C>T rs372843257 0.00001
NM_001130987.2(DYSF):c.1033+15C>T rs201951971 0.00001
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=) rs1553525671 0.00001
NM_001130987.2(DYSF):c.1057C>T (p.Leu353=) rs752460236 0.00001
NM_001130987.2(DYSF):c.1060C>T (p.Leu354=) rs369378511 0.00001
NM_001130987.2(DYSF):c.1077T>C (p.Asp359=) rs761584106 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.1128G>C (p.Leu376=) rs755263065 0.00001
NM_001130987.2(DYSF):c.1131G>A (p.Gly377=) rs1175097508 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.1197C>T (p.Asn399=) rs781380886 0.00001
NM_001130987.2(DYSF):c.1203C>T (p.Leu401=) rs941254869 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1210A>G (p.Thr404Ala) rs767638011 0.00001
NM_001130987.2(DYSF):c.1226G>A (p.Arg409Gln) rs1224332034 0.00001
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1269G>A (p.Leu423=) rs774859639 0.00001
NM_001130987.2(DYSF):c.1272G>A (p.Pro424=) rs544769503 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+9G>C rs897697260 0.00001
NM_001130987.2(DYSF):c.1277-4C>G rs760860539 0.00001
NM_001130987.2(DYSF):c.1290G>T (p.Val430=) rs1304781240 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.1380+12G>T rs1159581897 0.00001
NM_001130987.2(DYSF):c.1383G>A (p.Leu461=) rs1559099257 0.00001
NM_001130987.2(DYSF):c.1395C>A (p.Ile465=) rs1255740798 0.00001
NM_001130987.2(DYSF):c.1449+11T>C rs548993658 0.00001
NM_001130987.2(DYSF):c.1450-6C>T rs757776087 0.00001
NM_001130987.2(DYSF):c.148-7del rs2082939938 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.1494-9T>G rs1429836890 0.00001
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) rs761279290 0.00001
NM_001130987.2(DYSF):c.1523C>T (p.Ala508Val) rs767079554 0.00001
NM_001130987.2(DYSF):c.1536G>T (p.Leu512=) rs1446447572 0.00001
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=) rs755103680 0.00001
NM_001130987.2(DYSF):c.1556C>T (p.Ala519Val) rs1333070050 0.00001
NM_001130987.2(DYSF):c.1576+15C>T rs779674840 0.00001
NM_001130987.2(DYSF):c.1576+16G>A rs577128387 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.1577-1633T>C rs778634483 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.1577-17C>A rs540107888 0.00001
NM_001130987.2(DYSF):c.1577-4C>T rs1206902174 0.00001
NM_001130987.2(DYSF):c.1577-7C>T rs767566865 0.00001
NM_001130987.2(DYSF):c.1599C>G (p.Leu533=) rs765133641 0.00001
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00001
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser) rs780677692 0.00001
NM_001130987.2(DYSF):c.1659C>T (p.Phe553=) rs1463798295 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.1693-11C>A rs1289743680 0.00001
NM_001130987.2(DYSF):c.1693-9C>T rs1447501012 0.00001
NM_001130987.2(DYSF):c.1746G>C (p.Leu582=) rs1674092066 0.00001
NM_001130987.2(DYSF):c.1752G>A (p.Glu584=) rs778125491 0.00001
NM_001130987.2(DYSF):c.1776C>T (p.Asp592=) rs199554105 0.00001
NM_001130987.2(DYSF):c.177C>T (p.Pro59=) rs2082943716 0.00001
NM_001130987.2(DYSF):c.1803G>A (p.Val601=) rs562084504 0.00001
NM_001130987.2(DYSF):c.1806+10G>A rs757667944 0.00001
NM_001130987.2(DYSF):c.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1842G>A (p.Ala614=) rs774829524 0.00001
NM_001130987.2(DYSF):c.1857C>A (p.Ala619=) rs2091067615 0.00001
NM_001130987.2(DYSF):c.1896G>A (p.Glu632=) rs1360936643 0.00001
NM_001130987.2(DYSF):c.1938C>T (p.Cys646=) rs1384389868 0.00001
NM_001130987.2(DYSF):c.1984+9G>A rs1375749923 0.00001
NM_001130987.2(DYSF):c.201T>C (p.His67=) rs182555653 0.00001
NM_001130987.2(DYSF):c.2040A>G (p.Ser680=) rs1285165000 0.00001
NM_001130987.2(DYSF):c.2058C>T (p.Ile686=) rs938649493 0.00001
NM_001130987.2(DYSF):c.2076T>A (p.Thr692=) rs907221996 0.00001
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554 0.00001
NM_001130987.2(DYSF):c.2109+11A>C rs1200723444 0.00001
NM_001130987.2(DYSF):c.2110-10C>G rs1325913112 0.00001
NM_001130987.2(DYSF):c.2110-11C>G rs780520305 0.00001
NM_001130987.2(DYSF):c.2110-15C>T rs2091305699 0.00001
NM_001130987.2(DYSF):c.2135T>G (p.Leu712Arg) rs548062068 0.00001
NM_001130987.2(DYSF):c.2151G>A (p.Gln717=) rs149864346 0.00001
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) rs762651388 0.00001
NM_001130987.2(DYSF):c.2169G>A (p.Val723=) rs1481602881 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.2194G>A (p.Asp732Asn) rs773783407 0.00001
NM_001130987.2(DYSF):c.2202C>T (p.Leu734=) rs1304800163 0.00001
NM_001130987.2(DYSF):c.2216+11C>A rs771066735 0.00001
NM_001130987.2(DYSF):c.2216+17G>A rs373793192 0.00001
NM_001130987.2(DYSF):c.2216+9G>T rs1040115070 0.00001
NM_001130987.2(DYSF):c.2217-12C>T rs201786433 0.00001
NM_001130987.2(DYSF):c.2217-17C>G rs2091783251 0.00001
NM_001130987.2(DYSF):c.2217-6T>G rs1403896712 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.240-14C>T rs1420373502 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.2410-15C>A rs745494546 0.00001
NM_001130987.2(DYSF):c.2410-17C>T rs2545768837 0.00001
NM_001130987.2(DYSF):c.2410-20G>A rs201247914 0.00001
NM_001130987.2(DYSF):c.2410-6G>A rs113640471 0.00001
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=) rs762226707 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.2517C>T (p.Ala839=) rs989889776 0.00001
NM_001130987.2(DYSF):c.2544G>A (p.Lys848=) rs776934303 0.00001
NM_001130987.2(DYSF):c.2560C>G (p.Leu854Val) rs775456247 0.00001
NM_001130987.2(DYSF):c.2562G>C (p.Leu854=) rs763143515 0.00001
NM_001130987.2(DYSF):c.2566-10T>C rs1312909300 0.00001
NM_001130987.2(DYSF):c.2566-14T>C rs1192450587 0.00001
NM_001130987.2(DYSF):c.2613G>A (p.Arg871=) rs768555447 0.00001
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) rs146153109 0.00001
NM_001130987.2(DYSF):c.2697+16C>T rs1408420988 0.00001
NM_001130987.2(DYSF):c.2697+19C>T rs1176208117 0.00001
NM_001130987.2(DYSF):c.2697+20C>A rs749435218 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.2716T>C (p.Leu906=) rs2092223294 0.00001
NM_001130987.2(DYSF):c.2729G>A (p.Gly910Glu) rs201178528 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.2796C>A (p.Pro932=) rs1055792485 0.00001
NM_001130987.2(DYSF):c.2823C>T (p.Gly941=) rs138212696 0.00001
NM_001130987.2(DYSF):c.2864+10G>A rs1338085640 0.00001
NM_001130987.2(DYSF):c.2864+14A>C rs2545800813 0.00001
NM_001130987.2(DYSF):c.2864+7C>T rs770354145 0.00001
NM_001130987.2(DYSF):c.2886C>T (p.Ala962=) rs776035565 0.00001
NM_001130987.2(DYSF):c.2892C>T (p.His964=) rs886044637 0.00001
NM_001130987.2(DYSF):c.2898C>T (p.Ser966=) rs761960980 0.00001
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=) rs767589708 0.00001
NM_001130987.2(DYSF):c.2932C>T (p.Leu978Phe) rs1369393165 0.00001
NM_001130987.2(DYSF):c.2946G>A (p.Gln982=) rs770460209 0.00001
NM_001130987.2(DYSF):c.2964C>T (p.Asp988=) rs1365331643 0.00001
NM_001130987.2(DYSF):c.2979+13C>G rs1386630267 0.00001
NM_001130987.2(DYSF):c.2979+8A>C rs774607428 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.2994G>A (p.Val998=) rs921273781 0.00001
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln) rs763925689 0.00001
NM_001130987.2(DYSF):c.3060C>T (p.Asp1020=) rs779224176 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.3078T>C (p.Asp1026=) rs2545819922 0.00001
NM_001130987.2(DYSF):c.3086-4C>T rs2092361501 0.00001
NM_001130987.2(DYSF):c.3086-7C>T rs752117170 0.00001
NM_001130987.2(DYSF):c.3087C>T (p.Gly1029=) rs36077172 0.00001
NM_001130987.2(DYSF):c.3120G>A (p.Arg1040=) rs752063745 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.3228+8A>C rs749135257 0.00001
NM_001130987.2(DYSF):c.3229-4G>A rs778918599 0.00001
NM_001130987.2(DYSF):c.3229-5T>C rs794727532 0.00001
NM_001130987.2(DYSF):c.3231C>T (p.His1077=) rs772568748 0.00001
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val) rs200637035 0.00001
NM_001130987.2(DYSF):c.3291C>T (p.Phe1097=) rs746521151 0.00001
NM_001130987.2(DYSF):c.3318C>G (p.Ala1106=) rs753777255 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.3402+13G>A rs568315095 0.00001
NM_001130987.2(DYSF):c.3402+14C>T rs1441921000 0.00001
NM_001130987.2(DYSF):c.3402+9G>A rs533984377 0.00001
NM_001130987.2(DYSF):c.3403-16A>G rs1327972475 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.3440C>T (p.Ser1147Phe) rs755476936 0.00001
NM_001130987.2(DYSF):c.345+15G>A rs371803516 0.00001
NM_001130987.2(DYSF):c.345+8C>T rs780906230 0.00001
NM_001130987.2(DYSF):c.346-16G>A rs576372858 0.00001
NM_001130987.2(DYSF):c.3474C>T (p.Pro1158=) rs2545989322 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+20C>T rs2093193783 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.3537C>T (p.Ala1179=) rs776302025 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.3575-9C>T rs2093462408 0.00001
NM_001130987.2(DYSF):c.357C>G (p.Val119=) rs2086125469 0.00001
NM_001130987.2(DYSF):c.3621G>A (p.Val1207=) rs1425348474 0.00001
NM_001130987.2(DYSF):c.3633C>T (p.Asn1211=) rs745656518 0.00001
NM_001130987.2(DYSF):c.3642C>T (p.Asn1214=) rs1434655722 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.3702A>G (p.Thr1234=) rs2093465610 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.3744C>T (p.Asp1248=) rs1210049997 0.00001
NM_001130987.2(DYSF):c.3756+18C>T rs1323939838 0.00001
NM_001130987.2(DYSF):c.3757-10C>T rs907822658 0.00001
NM_001130987.2(DYSF):c.3757-18T>C rs748523806 0.00001
NM_001130987.2(DYSF):c.3757-19C>T rs752418484 0.00001
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312 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.3816G>T (p.Arg1272=) rs1473206505 0.00001
NM_001130987.2(DYSF):c.3819G>A (p.Leu1273=) rs751068960 0.00001
NM_001130987.2(DYSF):c.3831A>G (p.Pro1277=) rs746412071 0.00001
NM_001130987.2(DYSF):c.3897+15T>C rs755398490 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.3912T>C (p.His1304=) rs2093550929 0.00001
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946 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.3928-8T>C rs765774189 0.00001
NM_001130987.2(DYSF):c.3957+10G>A rs2546074581 0.00001
NM_001130987.2(DYSF):c.3957+12G>A rs368306508 0.00001
NM_001130987.2(DYSF):c.3957+8G>T rs756186706 0.00001
NM_001130987.2(DYSF):c.3957+9G>A rs794727590 0.00001
NM_001130987.2(DYSF):c.3981C>T (p.Tyr1327=) rs745549938 0.00001
NM_001130987.2(DYSF):c.4056C>T (p.Ile1352=) rs748683630 0.00001
NM_001130987.2(DYSF):c.4059+12G>A rs765392394 0.00001
NM_001130987.2(DYSF):c.4059+17T>C rs2546127071 0.00001
NM_001130987.2(DYSF):c.4059+8G>A rs770831705 0.00001
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 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.4077G>A (p.Leu1359=) rs1403408041 0.00001
NM_001130987.2(DYSF):c.4129G>A (p.Val1377Ile) rs766274211 0.00001
NM_001130987.2(DYSF):c.4146G>A (p.Gln1382=) rs1456392109 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 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.4203C>T (p.Cys1401=) rs1182237096 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.4221+9C>T rs375993049 0.00001
NM_001130987.2(DYSF):c.4222-11C>T rs748192393 0.00001
NM_001130987.2(DYSF):c.4222-8C>T rs772066982 0.00001
NM_001130987.2(DYSF):c.4263C>T (p.Val1421=) rs1368093680 0.00001
NM_001130987.2(DYSF):c.4266G>T (p.Lys1422Asn) rs754248938 0.00001
NM_001130987.2(DYSF):c.4272C>T (p.Ile1424=) rs1465648654 0.00001
NM_001130987.2(DYSF):c.4281C>A (p.Arg1427=) rs747152170 0.00001
NM_001130987.2(DYSF):c.4284G>A (p.Gln1428=) rs2093792924 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.4395G>C (p.Val1465=) rs2093810492 0.00001
NM_001130987.2(DYSF):c.4404C>T (p.Leu1468=) rs745452114 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.4464+18C>T rs1346300032 0.00001
NM_001130987.2(DYSF):c.4464+8G>A rs745311207 0.00001
NM_001130987.2(DYSF):c.4536G>A (p.Glu1512=) rs1241285277 0.00001
NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met) rs527574888 0.00001
NM_001130987.2(DYSF):c.460+9C>A rs1052225757 0.00001
NM_001130987.2(DYSF):c.4620C>A (p.Thr1540=) rs775749086 0.00001
NM_001130987.2(DYSF):c.4620C>T (p.Thr1540=) rs775749086 0.00001
NM_001130987.2(DYSF):c.4626+10C>T rs1420815050 0.00001
NM_001130987.2(DYSF):c.4627-11A>G rs566972874 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.4698G>A (p.Leu1566=) rs1386985520 0.00001
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) rs775026383 0.00001
NM_001130987.2(DYSF):c.4725A>G (p.Thr1575=) rs2094767983 0.00001
NM_001130987.2(DYSF):c.4734A>G (p.Pro1578=) rs1168024300 0.00001
NM_001130987.2(DYSF):c.4755+12A>G rs745611908 0.00001
NM_001130987.2(DYSF):c.4755+17G>A rs199538207 0.00001
NM_001130987.2(DYSF):c.4755+8C>T rs1278005040 0.00001
NM_001130987.2(DYSF):c.4756-16C>T rs2094825935 0.00001
NM_001130987.2(DYSF):c.4797C>T (p.Ile1599=) rs551195286 0.00001
NM_001130987.2(DYSF):c.4798C>G (p.Pro1600Ala) rs1020805868 0.00001
NM_001130987.2(DYSF):c.4842C>T (p.Pro1614=) rs766968114 0.00001
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00001
NM_001130987.2(DYSF):c.4911+11T>C rs759779808 0.00001
NM_001130987.2(DYSF):c.4917T>C (p.Asp1639=) rs780604882 0.00001
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768 0.00001
NM_001130987.2(DYSF):c.4992C>T (p.Pro1664=) rs369004367 0.00001
NM_001130987.2(DYSF):c.5004-20G>A rs1306683223 0.00001
NM_001130987.2(DYSF):c.5007G>A (p.Met1669Ile) rs755640394 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.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.5146C>T (p.Arg1716Cys) rs771735871 0.00001
NM_001130987.2(DYSF):c.5154A>G (p.Gly1718=) rs1210820177 0.00001
NM_001130987.2(DYSF):c.5174+16C>T rs1298842369 0.00001
NM_001130987.2(DYSF):c.5175-12C>T rs1159756288 0.00001
NM_001130987.2(DYSF):c.5175-7T>C rs764665728 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.5238G>A (p.Gln1746=) rs762447573 0.00001
NM_001130987.2(DYSF):c.5298A>G (p.Glu1766=) rs769272706 0.00001
NM_001130987.2(DYSF):c.5310A>G (p.Glu1770=) rs774051571 0.00001
NM_001130987.2(DYSF):c.5317+13A>G rs761118427 0.00001
NM_001130987.2(DYSF):c.5317+20C>T rs2094976958 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.5352A>G (p.Pro1784=) rs1422915675 0.00001
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=) rs140812535 0.00001
NM_001130987.2(DYSF):c.5371C>T (p.Leu1791=) rs1176453205 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.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.5433C>T (p.Ser1811=) rs200879908 0.00001
NM_001130987.2(DYSF):c.5448C>T (p.Asp1816=) rs760654351 0.00001
NM_001130987.2(DYSF):c.5454G>A (p.Glu1818=) rs2095036831 0.00001
NM_001130987.2(DYSF):c.5457+14C>T rs746503236 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5460G>C (p.Gly1820=) rs549937720 0.00001
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5546+14C>T rs777999136 0.00001
NM_001130987.2(DYSF):c.5556G>A (p.Leu1852=) rs2095071509 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 0.00001
NM_001130987.2(DYSF):c.5634T>C (p.Tyr1878=) rs2095073388 0.00001
NM_001130987.2(DYSF):c.5642+13C>T rs745964080 0.00001
NM_001130987.2(DYSF):c.5642+17C>T rs747900178 0.00001
NM_001130987.2(DYSF):c.5642+19C>T rs201381607 0.00001
NM_001130987.2(DYSF):c.5643-19T>C rs2095083161 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.5784+10C>T rs758268866 0.00001
NM_001130987.2(DYSF):c.5784+14C>T rs751308221 0.00001
NM_001130987.2(DYSF):c.5784+9C>A rs753986968 0.00001
NM_001130987.2(DYSF):c.5785-12C>T rs555569443 0.00001
NM_001130987.2(DYSF):c.5785-14C>T rs762269267 0.00001
NM_001130987.2(DYSF):c.5785-9C>G rs573892877 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.5835G>A (p.Val1945=) rs544671347 0.00001
NM_001130987.2(DYSF):c.5838G>A (p.Val1946=) rs780912992 0.00001
NM_001130987.2(DYSF):c.5855A>G (p.Asn1952Ser) rs747351345 0.00001
NM_001130987.2(DYSF):c.5884+7G>A rs578068243 0.00001
NM_001130987.2(DYSF):c.5885-6T>C rs1306652046 0.00001
NM_001130987.2(DYSF):c.588A>G (p.Gly196=) rs141002437 0.00001
NM_001130987.2(DYSF):c.5909G>A (p.Arg1970His) rs1167021157 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.593C>G (p.Thr198Ser) rs759461742 0.00001
NM_001130987.2(DYSF):c.5958G>A (p.Leu1986=) rs2546634092 0.00001
NM_001130987.2(DYSF):c.6064-11dup rs772475009 0.00001
NM_001130987.2(DYSF):c.6064-15T>C rs776743681 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.6114G>A (p.Glu2038=) rs763872293 0.00001
NM_001130987.2(DYSF):c.616C>T (p.Leu206=) rs780606842 0.00001
NM_001130987.2(DYSF):c.6173+11A>G rs1322069980 0.00001
NM_001130987.2(DYSF):c.6173+15C>T rs1263010956 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001130987.2(DYSF):c.6213C>T (p.Tyr2071=) rs1012723902 0.00001
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn) rs771663815 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.6270C>T (p.Ile2090=) rs1231224348 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.6321+10C>G rs2546653100 0.00001
NM_001130987.2(DYSF):c.6322-14C>T rs780735396 0.00001
NM_001130987.2(DYSF):c.6322-18T>A rs1336457429 0.00001
NM_001130987.2(DYSF):c.6322-7C>T rs749806665 0.00001
NM_001130987.2(DYSF):c.6348G>A (p.Lys2116=) rs1194443059 0.00001
NM_001130987.2(DYSF):c.6359G>A (p.Ter2120=) rs762886006 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.678G>A (p.Pro226=) rs779321489 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.735G>A (p.Leu245=) rs748463150 0.00001
NM_001130987.2(DYSF):c.738A>G (p.Ser246=) rs777877625 0.00001
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00001
NM_001130987.2(DYSF):c.759+17C>A rs1408917456 0.00001
NM_001130987.2(DYSF):c.795G>A (p.Pro265=) rs751967195 0.00001
NM_001130987.2(DYSF):c.849G>C (p.Arg283=) rs2086581716 0.00001
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867 0.00001
NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys) rs201550600 0.00001
NM_001130987.2(DYSF):c.888+7G>C rs369722261 0.00001
NM_001130987.2(DYSF):c.889-13T>C rs2545419362 0.00001
NM_001130987.2(DYSF):c.92-13G>T rs773206877 0.00001
NM_001130987.2(DYSF):c.92-17T>G rs767741975 0.00001
NM_001130987.2(DYSF):c.930T>C (p.Phe310=) rs2086636021 0.00001
NM_001130987.2(DYSF):c.952-14A>T rs747688530 0.00001
NM_001130987.2(DYSF):c.952-6C>G rs772653237 0.00001
NM_001130987.2(DYSF):c.954G>T (p.Val318=) rs753987509 0.00001
NM_001130987.2(DYSF):c.969T>C (p.Ser323=) rs2086727535 0.00001
NM_001130987.2(DYSF):c.999C>T (p.Phe333=) rs367878277 0.00001
NM_003494.4(DYSF):c.21C>T (p.Leu7=) rs2080944372 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
NM_003494.4(DYSF):c.84T>C (p.Phe28=) rs1261407949 0.00001
NM_001130987.2(DYSF):c.1002+13T>A
NM_001130987.2(DYSF):c.1003-6T>C rs2152741412
NM_001130987.2(DYSF):c.1011G>A (p.Val337=) rs1573697664
NM_001130987.2(DYSF):c.1026A>G (p.Arg342=) rs2545454115
NM_001130987.2(DYSF):c.1033+11dup rs2545454245
NM_001130987.2(DYSF):c.1034-17G>C rs2545459042
NM_001130987.2(DYSF):c.1034-5C>T
NM_001130987.2(DYSF):c.1035G>T (p.Arg345=) rs772044488
NM_001130987.2(DYSF):c.1047C>G (p.Leu349=) rs2545459327
NM_001130987.2(DYSF):c.1047C>T (p.Leu349=) rs2545459327
NM_001130987.2(DYSF):c.1089T>C (p.Ala363=) rs2152742250
NM_001130987.2(DYSF):c.108C>A (p.Thr36=) rs749854198
NM_001130987.2(DYSF):c.1092G>A (p.Gly364=) rs2152742258
NM_001130987.2(DYSF):c.111A>G (p.Lys37=) rs1316230143
NM_001130987.2(DYSF):c.1128G>A (p.Leu376=) rs755263065
NM_001130987.2(DYSF):c.1146G>C (p.Ala382=) rs749288662
NM_001130987.2(DYSF):c.1146G>T (p.Ala382=) rs749288662
NM_001130987.2(DYSF):c.1149+10T>A rs772657890
NM_001130987.2(DYSF):c.1149+16T>C rs2545460212
NM_001130987.2(DYSF):c.1149+19G>A
NM_001130987.2(DYSF):c.1149+19del rs758311328
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.1150-13G>C
NM_001130987.2(DYSF):c.1150-20G>C rs186036570
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.1198C>T (p.Leu400=)
NM_001130987.2(DYSF):c.1200G>C (p.Leu400=) rs764593587
NM_001130987.2(DYSF):c.1203C>G (p.Leu401=)
NM_001130987.2(DYSF):c.120G>A (p.Lys40=) rs2082829925
NM_001130987.2(DYSF):c.1215C>A (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1216G>A (p.Val406Ile) rs150724610
NM_001130987.2(DYSF):c.1218A>T (p.Val406=) rs2545492168
NM_001130987.2(DYSF):c.1221C>T (p.Ala407=) rs932501116
NM_001130987.2(DYSF):c.1222C>T (p.Leu408=)
NM_001130987.2(DYSF):c.1224G>A (p.Leu408=) rs2152748611
NM_001130987.2(DYSF):c.1224G>T (p.Leu408=) rs2152748611
NM_001130987.2(DYSF):c.1227A>G (p.Arg409=) rs915460671
NM_001130987.2(DYSF):c.1233C>T (p.Ala411=) rs2545492323
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr) rs770578593
NM_001130987.2(DYSF):c.1243C>T (p.Leu415=) rs2152748650
NM_001130987.2(DYSF):c.1251C>G (p.Val417=) rs2152748659
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.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.1266C>T (p.Asp422=) rs1268717670
NM_001130987.2(DYSF):c.1276+12G>A rs906028906
NM_001130987.2(DYSF):c.1276+12G>T rs906028906
NM_001130987.2(DYSF):c.1276+15C>T rs1311685072
NM_001130987.2(DYSF):c.1276+18T>C rs2152748769
NM_001130987.2(DYSF):c.1276+9G>A rs897697260
NM_001130987.2(DYSF):c.1277-14G>A rs2545508226
NM_001130987.2(DYSF):c.1277-17del rs2545508199
NM_001130987.2(DYSF):c.1277-18G>C rs1377746878
NM_001130987.2(DYSF):c.1277-20T>C rs773476693
NM_001130987.2(DYSF):c.1284T>C (p.Asp428=) rs1573759720
NM_001130987.2(DYSF):c.1290G>A (p.Val430=) rs1304781240
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.1314T>C (p.Phe438=) rs762255707
NM_001130987.2(DYSF):c.1317C>A (p.Gly439=) rs1267921215
NM_001130987.2(DYSF):c.1329C>T (p.Asn443=) rs143355224
NM_001130987.2(DYSF):c.132C>T (p.Asn44=) rs772240035
NM_001130987.2(DYSF):c.1338C>T (p.Asn446=) rs779530094
NM_001130987.2(DYSF):c.1350C>G (p.Pro450=) rs2545508791
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.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1380+8G>A rs2545509111
NM_001130987.2(DYSF):c.1380+8G>T rs2545509111
NM_001130987.2(DYSF):c.1380+9C>G rs1573760922
NM_001130987.2(DYSF):c.1380+9C>T rs1573760922
NM_001130987.2(DYSF):c.1381-12T>C rs2545554341
NM_001130987.2(DYSF):c.1381-19C>T rs2089163940
NM_001130987.2(DYSF):c.1381-20C>T rs776806053
NM_001130987.2(DYSF):c.138A>G (p.Val46=) rs2467168740
NM_001130987.2(DYSF):c.1407G>T (p.Thr469=) rs150093305
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=) rs991435513
NM_001130987.2(DYSF):c.1438C>T (p.Leu480=) rs761512137
NM_001130987.2(DYSF):c.1440G>A (p.Leu480=) rs1311070634
NM_001130987.2(DYSF):c.1440G>C (p.Leu480=) rs1311070634
NM_001130987.2(DYSF):c.1443T>C (p.Pro481=) rs2152761051
NM_001130987.2(DYSF):c.1449+11T>G rs548993658
NM_001130987.2(DYSF):c.1449+15C>G rs2545555086
NM_001130987.2(DYSF):c.1449+16C>G rs746034059
NM_001130987.2(DYSF):c.1449+19_1449+35del rs2545555166
NM_001130987.2(DYSF):c.1449+7C>A rs199608017
NM_001130987.2(DYSF):c.1449+7C>G rs199608017
NM_001130987.2(DYSF):c.1449+9C>T rs2089175621
NM_001130987.2(DYSF):c.1450-14T>C rs2152761287
NM_001130987.2(DYSF):c.1450-16T>C rs2545556584
NM_001130987.2(DYSF):c.1450-7T>C rs2089201975
NM_001130987.2(DYSF):c.1464C>T (p.Cys488=) rs202044973
NM_001130987.2(DYSF):c.147+6dup rs2467169022
NM_001130987.2(DYSF):c.148-17T>G rs2467183591
NM_001130987.2(DYSF):c.148-20C>T rs2467183530
NM_001130987.2(DYSF):c.148-9T>C rs779606200
NM_001130987.2(DYSF):c.1491C>T (p.Asp497=) rs2545557057
NM_001130987.2(DYSF):c.1493+11A>G rs2545557195
NM_001130987.2(DYSF):c.1493+14C>T rs746873346
NM_001130987.2(DYSF):c.1493+7del rs2089209523
NM_001130987.2(DYSF):c.1494-10C>T rs2545584019
NM_001130987.2(DYSF):c.1494-12C>T rs778816516
NM_001130987.2(DYSF):c.1494-17C>G rs755229225
NM_001130987.2(DYSF):c.1494-4C>T rs377488411
NM_001130987.2(DYSF):c.1494-7G>A rs531223734
NM_001130987.2(DYSF):c.1501C>T (p.Leu501=) rs2545584198
NM_001130987.2(DYSF):c.1521G>A (p.Val507=) rs2545584300
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=) rs1446447572
NM_001130987.2(DYSF):c.1539T>C (p.Ser513=) rs2152766953
NM_001130987.2(DYSF):c.1566A>G (p.Gly522=) rs2545584710
NM_001130987.2(DYSF):c.156A>G (p.Glu52=) rs1411364582
NM_001130987.2(DYSF):c.1576+10C>T rs2152767049
NM_001130987.2(DYSF):c.1576+8C>T rs1573841471
NM_001130987.2(DYSF):c.1576+9C>T rs1257070622
NM_001130987.2(DYSF):c.1577-11G>T rs2090905775
NM_001130987.2(DYSF):c.1577-14C>T rs2545668253
NM_001130987.2(DYSF):c.1577-15A>G rs2152786840
NM_001130987.2(DYSF):c.1577-1630G>A rs926725566
NM_001130987.2(DYSF):c.1577-1633T>A rs778634483
NM_001130987.2(DYSF):c.1577-1633T>G rs778634483
NM_001130987.2(DYSF):c.1577-1635C>T rs76402294
NM_001130987.2(DYSF):c.1577-1638T>C rs1393020416
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929
NM_001130987.2(DYSF):c.1577-1640T>C rs1457895875
NM_001130987.2(DYSF):c.1577-1642G>A rs751779760
NM_001130987.2(DYSF):c.1577-1696T>C
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 rs2545655107
NM_001130987.2(DYSF):c.1577-17C>T rs540107888
NM_001130987.2(DYSF):c.1577-6T>C rs2545668315
NM_001130987.2(DYSF):c.1577-9G>A rs1273356143
NM_001130987.2(DYSF):c.1587C>T (p.Tyr529=) rs2545668408
NM_001130987.2(DYSF):c.1590G>A (p.Leu530=) rs2090907734
NM_001130987.2(DYSF):c.1599C>T (p.Leu533=) rs765133641
NM_001130987.2(DYSF):c.1602C>G (p.Pro534=) rs755709561
NM_001130987.2(DYSF):c.1602C>T (p.Pro534=)
NM_001130987.2(DYSF):c.1611G>A (p.Gly537=)
NM_001130987.2(DYSF):c.1623C>T (p.Ile541=) rs2545668655
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.1635C>A (p.Gly545=) rs2090911287
NM_001130987.2(DYSF):c.1641C>A (p.Pro547=) rs2545668769
NM_001130987.2(DYSF):c.1650C>T (p.Phe550=) rs755735777
NM_001130987.2(DYSF):c.1656C>T (p.Gly552=)
NM_001130987.2(DYSF):c.1671C>T (p.Tyr557=) rs2545668974
NM_001130987.2(DYSF):c.1674A>C (p.Thr558=) rs147101870
NM_001130987.2(DYSF):c.168G>A (p.Lys56=) rs2082942065
NM_001130987.2(DYSF):c.1692+13G>A rs368874059
NM_001130987.2(DYSF):c.1692+15G>A rs2545669289
NM_001130987.2(DYSF):c.1692+16C>T rs1208432666
NM_001130987.2(DYSF):c.1692+20G>C rs373868173
NM_001130987.2(DYSF):c.1692+9G>C rs2152787133
NM_001130987.2(DYSF):c.1693-11C>T rs1289743680
NM_001130987.2(DYSF):c.1693-12C>T rs2545673194
NM_001130987.2(DYSF):c.1693-14G>A
NM_001130987.2(DYSF):c.1693-17C>G rs773300501
NM_001130987.2(DYSF):c.1693-17C>T rs773300501
NM_001130987.2(DYSF):c.1704G>A (p.Val568=) rs2152787950
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.1728C>T (p.Leu576=) rs2545673720
NM_001130987.2(DYSF):c.1731C>A (p.Ser577=) rs1272649514
NM_001130987.2(DYSF):c.1740C>G (p.Thr580=) rs1206191370
NM_001130987.2(DYSF):c.1744C>T (p.Leu582=) rs563178501
NM_001130987.2(DYSF):c.174C>A (p.Ile58=) rs1478264060
NM_001130987.2(DYSF):c.1758T>C (p.Ser586=) rs901241015
NM_001130987.2(DYSF):c.1761A>G (p.Glu587=) rs2152788050
NM_001130987.2(DYSF):c.1764G>A (p.Gln588=) rs2152788061
NM_001130987.2(DYSF):c.1782T>G (p.Pro594=) rs1573934316
NM_001130987.2(DYSF):c.1794C>T (p.Ile598=) rs760351974
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) rs546679270
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1806+7G>C rs758951311
NM_001130987.2(DYSF):c.1806+8G>A rs1246065975
NM_001130987.2(DYSF):c.1806+9T>A rs751944282
NM_001130987.2(DYSF):c.1807-14C>T rs750555367
NM_001130987.2(DYSF):c.1807-15A>G rs2545685029
NM_001130987.2(DYSF):c.1807-20G>T rs757616928
NM_001130987.2(DYSF):c.1807-5C>A rs2091062952
NM_001130987.2(DYSF):c.1807-7C>T rs2545685159
NM_001130987.2(DYSF):c.1807-9T>C rs2152790570
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.1860C>A (p.Thr620=) rs1467228119
NM_001130987.2(DYSF):c.1860C>T (p.Thr620=) rs1467228119
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.1890G>A (p.Gln630=) rs2152790814
NM_001130987.2(DYSF):c.1908G>A (p.Gly636=) rs2091073174
NM_001130987.2(DYSF):c.1911C>T (p.Asn637=) rs2091073337
NM_001130987.2(DYSF):c.1917G>C (p.Gly639=) rs769518034
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1956C>T (p.Thr652=) rs2545686658
NM_001130987.2(DYSF):c.1959T>G (p.Thr653=) rs2152790987
NM_001130987.2(DYSF):c.195G>A (p.Glu65=) rs2467184525
NM_001130987.2(DYSF):c.1962G>A (p.Gln654=) rs2545686705
NM_001130987.2(DYSF):c.1974A>G (p.Ala658=) rs2545686790
NM_001130987.2(DYSF):c.1977C>T (p.Val659=) rs2545686822
NM_001130987.2(DYSF):c.1984+14C>G
NM_001130987.2(DYSF):c.1984+19C>T rs747622900
NM_001130987.2(DYSF):c.1984+8A>T rs2152791044
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.1985-16C>A rs377533029
NM_001130987.2(DYSF):c.1985-17C>T rs2545694158
NM_001130987.2(DYSF):c.1985-18C>A rs771552190
NM_001130987.2(DYSF):c.1985-18C>T rs771552190
NM_001130987.2(DYSF):c.1985-7A>G rs2545694355
NM_001130987.2(DYSF):c.1985-8del rs2545694330
NM_001130987.2(DYSF):c.1986G>A (p.Gly662=) rs1469655164
NM_001130987.2(DYSF):c.2001C>T (p.Tyr667=) rs2545694554
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=) rs1553544209
NM_001130987.2(DYSF):c.2028G>A (p.Val676=) rs2091143475
NM_001130987.2(DYSF):c.2031G>A (p.Val677=) rs2545694747
NM_001130987.2(DYSF):c.2037G>A (p.Leu679=) rs2545694780
NM_001130987.2(DYSF):c.2046C>T (p.Tyr682=) rs2152792555
NM_001130987.2(DYSF):c.2052G>A (p.Glu684=) rs2545694856
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=) rs746480529
NM_001130987.2(DYSF):c.2082C>T (p.Asn694=) rs2545695100
NM_001130987.2(DYSF):c.2088G>T (p.Leu696=)
NM_001130987.2(DYSF):c.2106G>T (p.Arg702=) rs2152792698
NM_001130987.2(DYSF):c.2109+12C>G rs1573949663
NM_001130987.2(DYSF):c.2109+12C>T rs1573949663
NM_001130987.2(DYSF):c.2109+16C>G rs759474088
NM_001130987.2(DYSF):c.2109+16C>T
NM_001130987.2(DYSF):c.2110-10C>T rs1325913112
NM_001130987.2(DYSF):c.2110-11C>T rs780520305
NM_001130987.2(DYSF):c.2110-5C>A rs2545710423
NM_001130987.2(DYSF):c.2110-9A>G rs2545710403
NM_001130987.2(DYSF):c.2133C>T (p.His711=) rs1243434554
NM_001130987.2(DYSF):c.2136G>A (p.Leu712=) rs748411317
NM_001130987.2(DYSF):c.2140C>T (p.Leu714=) rs2152796039
NM_001130987.2(DYSF):c.2148G>T (p.Ala716=) rs201239189
NM_001130987.2(DYSF):c.2178G>C (p.Leu726=) rs755737984
NM_001130987.2(DYSF):c.2187G>A (p.Gln729=) rs2152796141
NM_001130987.2(DYSF):c.2211C>G (p.Gly737=) rs2545711516
NM_001130987.2(DYSF):c.2216+10A>T rs1573963862
NM_001130987.2(DYSF):c.2216+13T>G rs2545711774
NM_001130987.2(DYSF):c.2216+16_2216+24del rs2152796251
NM_001130987.2(DYSF):c.2216+19C>G rs2545711846
NM_001130987.2(DYSF):c.2216+20C>G rs2091317742
NM_001130987.2(DYSF):c.2216+7G>A rs2545711650
NM_001130987.2(DYSF):c.2216+8G>A rs2152796229
NM_001130987.2(DYSF):c.2216+9G>A rs1040115070
NM_001130987.2(DYSF):c.2217-15G>C rs2545752622
NM_001130987.2(DYSF):c.2217-15G>T rs2545752622
NM_001130987.2(DYSF):c.2217-19A>G rs2545752589
NM_001130987.2(DYSF):c.2223T>C (p.Pro741=) rs1574000542
NM_001130987.2(DYSF):c.2224C>T (p.Leu742=) rs2545752777
NM_001130987.2(DYSF):c.2232C>T (p.Asp744=) rs2152803824
NM_001130987.2(DYSF):c.2241G>A (p.Glu747=) rs2545752877
NM_001130987.2(DYSF):c.2247C>T (p.Pro749=) rs2091788049
NM_001130987.2(DYSF):c.225G>T (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2265C>T (p.Asp755=) rs143773517
NM_001130987.2(DYSF):c.2286C>T (p.Arg762=) rs2545753177
NM_001130987.2(DYSF):c.2289C>T (p.Thr763=) rs938112009
NM_001130987.2(DYSF):c.2292T>C (p.His764=) rs2152803900
NM_001130987.2(DYSF):c.2310T>C (p.Thr770=) rs2152803913
NM_001130987.2(DYSF):c.2310T>G (p.Thr770=) rs2152803913
NM_001130987.2(DYSF):c.231G>A (p.Gly77=) rs1553508988
NM_001130987.2(DYSF):c.2320C>T (p.Leu774=)
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=) rs116204385
NM_001130987.2(DYSF):c.2349C>T (p.Leu783=)
NM_001130987.2(DYSF):c.2358T>C (p.Ala786=) rs1574001503
NM_001130987.2(DYSF):c.2361G>A (p.Leu787=) rs2091796083
NM_001130987.2(DYSF):c.2367G>A (p.Gln789=) rs2152803972
NM_001130987.2(DYSF):c.2383C>T (p.Leu795=) rs2545753895
NM_001130987.2(DYSF):c.2388T>C (p.Arg796=) rs2152804009
NM_001130987.2(DYSF):c.239+14A>T rs1553509013
NM_001130987.2(DYSF):c.239+15G>A rs376711978
NM_001130987.2(DYSF):c.239+15G>T rs376711978
NM_001130987.2(DYSF):c.239+16G>A rs370433490
NM_001130987.2(DYSF):c.239+16G>C rs370433490
NM_001130987.2(DYSF):c.239+16G>T
NM_001130987.2(DYSF):c.239+17G>A rs757432005
NM_001130987.2(DYSF):c.239+17G>T rs757432005
NM_001130987.2(DYSF):c.239+18G>A rs2152682840
NM_001130987.2(DYSF):c.239+20G>T rs12470028
NM_001130987.2(DYSF):c.239+7T>A rs2467185175
NM_001130987.2(DYSF):c.239+7T>G rs2467185175
NM_001130987.2(DYSF):c.2397C>G (p.Ala799=) rs751946333
NM_001130987.2(DYSF):c.240-10C>T rs781652025
NM_001130987.2(DYSF):c.240-5C>T rs1559021086
NM_001130987.2(DYSF):c.240-6T>A rs896011451
NM_001130987.2(DYSF):c.2409+10C>T rs2152804044
NM_001130987.2(DYSF):c.2409+12T>G
NM_001130987.2(DYSF):c.2409+13G>C rs2152804057
NM_001130987.2(DYSF):c.2410-10C>G rs2545768957
NM_001130987.2(DYSF):c.2410-11C>T rs2091942241
NM_001130987.2(DYSF):c.2410-6G>T rs113640471
NM_001130987.2(DYSF):c.2418C>T (p.Asn806=) rs2545769205
NM_001130987.2(DYSF):c.2424G>A (p.Leu808=) rs762226707
NM_001130987.2(DYSF):c.2436C>T (p.Val812=) rs908214011
NM_001130987.2(DYSF):c.2448G>C (p.Leu816=) rs1416175829
NM_001130987.2(DYSF):c.2454A>T (p.Gly818=) rs2545769520
NM_001130987.2(DYSF):c.2481G>A (p.Val827=) rs2091947571
NM_001130987.2(DYSF):c.2496C>T (p.Val832=) rs932447764
NM_001130987.2(DYSF):c.2499C>T (p.Leu833=) rs2545770041
NM_001130987.2(DYSF):c.2509C>A (p.Arg837=) rs371841411
NM_001130987.2(DYSF):c.2511G>A (p.Arg837=) rs2545770186
NM_001130987.2(DYSF):c.2520C>T (p.Asn840=) rs1235283621
NM_001130987.2(DYSF):c.2523C>T (p.Tyr841=) rs2091950553
NM_001130987.2(DYSF):c.2541G>A (p.Gly847=) rs1216925119
NM_001130987.2(DYSF):c.2545C>T (p.Leu849=) rs2152806488
NM_001130987.2(DYSF):c.2547A>G (p.Leu849=) rs2152806493
NM_001130987.2(DYSF):c.2562G>A (p.Leu854=) rs763143515
NM_001130987.2(DYSF):c.2565+18C>T rs1053145365
NM_001130987.2(DYSF):c.2565+19dup rs1160697607
NM_001130987.2(DYSF):c.2565+20A>G rs376086804
NM_001130987.2(DYSF):c.2566-14_2566-12del rs1425367642
NM_001130987.2(DYSF):c.2566-17C>T rs753605330
NM_001130987.2(DYSF):c.2583G>C (p.Val861=) rs554512393
NM_001130987.2(DYSF):c.2616C>T (p.Val872=) rs2545797939
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=) rs2545798055
NM_001130987.2(DYSF):c.2649G>A (p.Lys883=) rs2545798221
NM_001130987.2(DYSF):c.264A>G (p.Pro88=) rs2152715680
NM_001130987.2(DYSF):c.2652G>A (p.Glu884=) rs1221035313
NM_001130987.2(DYSF):c.2664T>C (p.Phe888=) rs1441467585
NM_001130987.2(DYSF):c.2667T>C (p.Ala889=) rs1485037647
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=) rs530181166
NM_001130987.2(DYSF):c.2679G>A (p.Leu893=)
NM_001130987.2(DYSF):c.2682T>G (p.Ser894=) rs2545798484
NM_001130987.2(DYSF):c.2697+14_2697+16del rs2545798668
NM_001130987.2(DYSF):c.2697+15_2697+17dup rs2545798678
NM_001130987.2(DYSF):c.2697+16C>G rs1408420988
NM_001130987.2(DYSF):c.2697+17C>T rs780474601
NM_001130987.2(DYSF):c.2697+7A>T
NM_001130987.2(DYSF):c.2697+9C>T rs2152811121
NM_001130987.2(DYSF):c.2698-18T>C
NM_001130987.2(DYSF):c.2698-19A>C rs2545799180
NM_001130987.2(DYSF):c.2698-6C>T rs1421130483
NM_001130987.2(DYSF):c.2698-7C>A rs975954590
NM_001130987.2(DYSF):c.2715G>A (p.Lys905=) rs2152811276
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=) rs775337850
NM_001130987.2(DYSF):c.2760C>A (p.Pro920=) rs2545799788
NM_001130987.2(DYSF):c.276C>G (p.Val92=) rs1423519649
NM_001130987.2(DYSF):c.2802C>T (p.Asp934=) rs2152811392
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
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.2859G>A (p.Glu953=) rs2152811483
NM_001130987.2(DYSF):c.2864+11G>T rs760059062
NM_001130987.2(DYSF):c.2864+12G>A rs2092233405
NM_001130987.2(DYSF):c.2864+14A>G rs2545800813
NM_001130987.2(DYSF):c.2864+19G>A rs2092234057
NM_001130987.2(DYSF):c.2864+20G>A rs2545800908
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 rs2545800682
NM_001130987.2(DYSF):c.2865-10T>G
NM_001130987.2(DYSF):c.2865-11dup rs2092320225
NM_001130987.2(DYSF):c.2865-16C>G rs1394253038
NM_001130987.2(DYSF):c.2865-4A>G rs1230953529
NM_001130987.2(DYSF):c.2865-6C>T rs771833658
NM_001130987.2(DYSF):c.2865-9C>T rs2545814589
NM_001130987.2(DYSF):c.2866C>T (p.Leu956=) rs777421461
NM_001130987.2(DYSF):c.2868G>C (p.Leu956=) rs2545814733
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.2895G>C (p.Leu965=) rs751744585
NM_001130987.2(DYSF):c.2907A>G (p.Glu969=) rs2545815055
NM_001130987.2(DYSF):c.2928C>T (p.Thr976=) rs148531939
NM_001130987.2(DYSF):c.2940A>G (p.Gly980=)
NM_001130987.2(DYSF):c.2967C>T (p.Asn989=) rs932028347
NM_001130987.2(DYSF):c.2979+16del rs2545815812
NM_001130987.2(DYSF):c.297C>A (p.Ser99=) rs763710844
NM_001130987.2(DYSF):c.2980-15C>G rs148732505
NM_001130987.2(DYSF):c.2980-19T>C rs745523990
NM_001130987.2(DYSF):c.2980-4T>A rs2152814485
NM_001130987.2(DYSF):c.2980-5C>G rs1342595713
NM_001130987.2(DYSF):c.2980-7T>G rs941467136
NM_001130987.2(DYSF):c.2980-8G>A rs2092339706
NM_001130987.2(DYSF):c.2985G>A (p.Gly995=) rs772573481
NM_001130987.2(DYSF):c.2991G>A (p.Lys997=) rs1200679183
NM_001130987.2(DYSF):c.3009C>T (p.Asp1003=) rs1478103594
NM_001130987.2(DYSF):c.3021A>C (p.Pro1007=) rs767310734
NM_001130987.2(DYSF):c.3021A>G (p.Pro1007=) rs767310734
NM_001130987.2(DYSF):c.3033G>A (p.Lys1011=) rs2545819566
NM_001130987.2(DYSF):c.3045G>A (p.Glu1015=) rs1299306436
NM_001130987.2(DYSF):c.3067C>A (p.Arg1023=) rs778316824
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3085+10A>G rs761759508
NM_001130987.2(DYSF):c.3085+11T>A rs1433533873
NM_001130987.2(DYSF):c.3085+11T>C
NM_001130987.2(DYSF):c.3085+18C>A rs2092346518
NM_001130987.2(DYSF):c.3085+8G>A rs2092345901
NM_001130987.2(DYSF):c.3086-10C>T rs894186211
NM_001130987.2(DYSF):c.3086-11C>G rs752233688
NM_001130987.2(DYSF):c.3086-13C>G rs759266871
NM_001130987.2(DYSF):c.3086-13C>T rs759266871
NM_001130987.2(DYSF):c.3086-16G>T rs533413074
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3086-18C>A rs181786284
NM_001130987.2(DYSF):c.3086-18C>T rs181786284
NM_001130987.2(DYSF):c.3086-9C>A rs185350547
NM_001130987.2(DYSF):c.3093G>A (p.Glu1031=) rs1167647963
NM_001130987.2(DYSF):c.3096T>C (p.Tyr1032=) rs2152815115
NM_001130987.2(DYSF):c.309T>C (p.Asn103=) rs1231985809
NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=) rs368033221
NM_001130987.2(DYSF):c.3108C>T (p.Ile1036=) rs368033221
NM_001130987.2(DYSF):c.3126G>C (p.Pro1042=) rs377235191
NM_001130987.2(DYSF):c.312C>T (p.Ala104=) rs750834799
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.315C>A (p.Pro105=) rs1203731908
NM_001130987.2(DYSF):c.315C>G (p.Pro105=) rs1203731908
NM_001130987.2(DYSF):c.3162A>C (p.Thr1054=) rs1217132164
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=) rs369607332
NM_001130987.2(DYSF):c.3168A>G (p.Arg1056=) rs763654971
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.3201T>C (p.Asp1067=) rs1045412680
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=) rs2545824630
NM_001130987.2(DYSF):c.3228+10C>A rs2545824808
NM_001130987.2(DYSF):c.3228+10C>T rs2545824808
NM_001130987.2(DYSF):c.3228+17T>C rs2092372592
NM_001130987.2(DYSF):c.3228+7_3228+22dup rs2545824747
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 rs1471789910
NM_001130987.2(DYSF):c.3229-7T>C rs1462610030
NM_001130987.2(DYSF):c.3243G>A (p.Glu1081=) rs2545875329
NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=) rs1440420005
NM_001130987.2(DYSF):c.3258C>T (p.Gly1086=) rs2545875625
NM_001130987.2(DYSF):c.3273T>G (p.Ser1091=) rs1049120732
NM_001130987.2(DYSF):c.3276T>C (p.Leu1092=) rs2545875898
NM_001130987.2(DYSF):c.3282C>T (p.Gly1094=) rs2545875970
NM_001130987.2(DYSF):c.3297C>G (p.Leu1099=) rs144936357
NM_001130987.2(DYSF):c.330G>A (p.Lys110=) rs1573565747
NM_001130987.2(DYSF):c.3312A>G (p.Thr1104=) rs2545876291
NM_001130987.2(DYSF):c.3315T>C (p.Asp1105=) rs886043916
NM_001130987.2(DYSF):c.3324C>T (p.Arg1108=) rs2152823096
NM_001130987.2(DYSF):c.3330C>A (p.Arg1110=) rs2152823127
NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=) rs1363249796
NM_001130987.2(DYSF):c.3354A>G (p.Pro1118=) rs1235233076
NM_001130987.2(DYSF):c.3363G>A (p.Lys1121=) rs2545877029
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=) rs773406325
NM_001130987.2(DYSF):c.3396G>A (p.Gly1132=) rs2092629807
NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=) rs2092629807
NM_001130987.2(DYSF):c.3399C>T (p.Ala1133=) rs2545877327
NM_001130987.2(DYSF):c.339C>T (p.Pro113=) rs1432668893
NM_001130987.2(DYSF):c.3402+10G>A rs2545877441
NM_001130987.2(DYSF):c.3403-13T>C rs2545988186
NM_001130987.2(DYSF):c.3403-14C>T rs111299035
NM_001130987.2(DYSF):c.3403-17C>G rs2152842383
NM_001130987.2(DYSF):c.3403-17C>T rs2152842383
NM_001130987.2(DYSF):c.3403-20A>G rs2545988000
NM_001130987.2(DYSF):c.3423G>A (p.Lys1141=) rs2093189667
NM_001130987.2(DYSF):c.3435C>T (p.Ser1145=) rs1015600625
NM_001130987.2(DYSF):c.3441C>G (p.Ser1147=) rs779624098
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.345+11A>G rs367923365
NM_001130987.2(DYSF):c.345+11A>T rs367923365
NM_001130987.2(DYSF):c.345+12T>C rs769394497
NM_001130987.2(DYSF):c.345+13C>T rs1559022061
NM_001130987.2(DYSF):c.345+7G>T rs1156574487
NM_001130987.2(DYSF):c.3450C>T (p.Thr1150=) rs2152842489
NM_001130987.2(DYSF):c.3453G>A (p.Leu1151=) rs2545989102
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.346-10T>C rs2545376261
NM_001130987.2(DYSF):c.346-19C>A rs1444044118
NM_001130987.2(DYSF):c.346-7C>G rs905439874
NM_001130987.2(DYSF):c.346-7_346-6del
NM_001130987.2(DYSF):c.346-8T>G rs2545376279
NM_001130987.2(DYSF):c.3469A>C (p.Arg1157=) rs2152842518
NM_001130987.2(DYSF):c.3477G>T (p.Thr1159=) rs576460368
NM_001130987.2(DYSF):c.3480T>C (p.Ile1160=) rs768564735
NM_001130987.2(DYSF):c.3489A>T (p.Ile1163=) rs2545989498
NM_001130987.2(DYSF):c.3496+18G>C rs753364656
NM_001130987.2(DYSF):c.3496+8A>C rs2545989606
NM_001130987.2(DYSF):c.3497-10C>A rs1399992374
NM_001130987.2(DYSF):c.3497-10C>G rs1399992374
NM_001130987.2(DYSF):c.3497-10C>T rs1399992374
NM_001130987.2(DYSF):c.3497-5T>C rs2545995822
NM_001130987.2(DYSF):c.3497-5del rs2152843358
NM_001130987.2(DYSF):c.3498T>C (p.Tyr1166=) rs758944159
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.3510C>T (p.Tyr1170=) rs2545996017
NM_001130987.2(DYSF):c.3514C>T (p.Leu1172=) rs2093220681
NM_001130987.2(DYSF):c.3519C>T (p.Arg1173=) rs2545996095
NM_001130987.2(DYSF):c.3522C>T (p.Cys1174=) rs1558555029
NM_001130987.2(DYSF):c.3534G>A (p.Gln1178=) rs2152843432
NM_001130987.2(DYSF):c.3538C>A (p.Arg1180=) rs759297236
NM_001130987.2(DYSF):c.3540G>A (p.Arg1180=) rs2545996285
NM_001130987.2(DYSF):c.3546G>A (p.Leu1182=) rs762611071
NM_001130987.2(DYSF):c.354G>A (p.Leu118=) rs1440131340
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3561G>A (p.Lys1187=) rs2093222447
NM_001130987.2(DYSF):c.3574+14A>G rs2545996699
NM_001130987.2(DYSF):c.3574+15G>A rs2545996715
NM_001130987.2(DYSF):c.3574+15G>C rs2545996715
NM_001130987.2(DYSF):c.3574+16G>C rs2545996731
NM_001130987.2(DYSF):c.3575-10G>A rs1293988031
NM_001130987.2(DYSF):c.3575-15C>T rs1301742229
NM_001130987.2(DYSF):c.3575-16_3575-7del rs2093461917
NM_001130987.2(DYSF):c.3575-17C>A rs13421969
NM_001130987.2(DYSF):c.3575-17C>G rs13421969
NM_001130987.2(DYSF):c.3575-18C>A
NM_001130987.2(DYSF):c.3575-18C>G rs376861951
NM_001130987.2(DYSF):c.3575-18C>T rs376861951
NM_001130987.2(DYSF):c.3575-5T>C rs2093462575
NM_001130987.2(DYSF):c.3575-6A>G rs1336964063
NM_001130987.2(DYSF):c.3575-6A>T rs1336964063
NM_001130987.2(DYSF):c.3575-7C>T rs2546045602
NM_001130987.2(DYSF):c.357C>A (p.Val119=) rs2086125469
NM_001130987.2(DYSF):c.3585C>T (p.Ala1195=) rs2546045808
NM_001130987.2(DYSF):c.3588C>A (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3591C>T (p.Val1197=) rs755037423
NM_001130987.2(DYSF):c.3594C>A (p.Ser1198=) rs2093463237
NM_001130987.2(DYSF):c.3594C>T (p.Ser1198=) rs2093463237
NM_001130987.2(DYSF):c.3603C>T (p.His1201=) rs2546045966
NM_001130987.2(DYSF):c.360G>A (p.Leu120=) rs1411569976
NM_001130987.2(DYSF):c.3615G>A (p.Lys1205=)
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.3624G>A (p.Val1208=) rs2546046115
NM_001130987.2(DYSF):c.3627G>A (p.Val1209=) rs1574263547
NM_001130987.2(DYSF):c.3660G>T (p.Thr1220=) rs139897804
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.369C>G (p.Ser123=) rs2545376562
NM_001130987.2(DYSF):c.3702A>C (p.Thr1234=) rs2093465610
NM_001130987.2(DYSF):c.3708T>C (p.Ala1236=) rs2546046621
NM_001130987.2(DYSF):c.3717G>T (p.Pro1239=) rs150444588
NM_001130987.2(DYSF):c.3720C>T (p.Pro1240=) rs2093466028
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=) rs1313903780
NM_001130987.2(DYSF):c.3738G>A (p.Leu1246=) rs780022977
NM_001130987.2(DYSF):c.3750C>T (p.Asp1250=) rs2546046901
NM_001130987.2(DYSF):c.3756+10C>T
NM_001130987.2(DYSF):c.3756+17C>T rs2546047117
NM_001130987.2(DYSF):c.3757-19C>G rs752418484
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=) rs2546060933
NM_001130987.2(DYSF):c.375A>T (p.Thr125=) rs2545376592
NM_001130987.2(DYSF):c.3768G>A (p.Glu1256=) rs1574276347
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3798T>C (p.Ser1266=) rs2152858798
NM_001130987.2(DYSF):c.379C>T (p.Leu127=)
NM_001130987.2(DYSF):c.3801G>A (p.Leu1267=) rs2152858802
NM_001130987.2(DYSF):c.3807G>A (p.Arg1269=) rs553948190
NM_001130987.2(DYSF):c.381G>A (p.Leu127=) rs2545376635
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.3849G>A (p.Gln1283=) rs774779883
NM_001130987.2(DYSF):c.3852G>T (p.Pro1284=) rs139983909
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.3861G>A (p.Glu1287=) rs2152858929
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.3882C>T (p.Leu1294=)
NM_001130987.2(DYSF):c.3885C>T (p.Ile1295=) rs2152858975
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 rs2152859017
NM_001130987.2(DYSF):c.3898-10_3898-9insGAT rs775213642
NM_001130987.2(DYSF):c.3898-11C>T rs2546066584
NM_001130987.2(DYSF):c.3898-15T>C rs768617596
NM_001130987.2(DYSF):c.3898-16C>A rs2546066558
NM_001130987.2(DYSF):c.3898-19T>A rs2152859948
NM_001130987.2(DYSF):c.3898-19T>C rs2152859948
NM_001130987.2(DYSF):c.3898-4C>T rs555206040
NM_001130987.2(DYSF):c.3898-7A>C rs1574281542
NM_001130987.2(DYSF):c.3898-7A>G rs1574281542
NM_001130987.2(DYSF):c.3898-8C>T rs2546066617
NM_001130987.2(DYSF):c.3898-9T>C
NM_001130987.2(DYSF):c.3906C>T (p.Ile1302=) rs754355332
NM_001130987.2(DYSF):c.3927+10G>C rs886056282
NM_001130987.2(DYSF):c.3927+12T>C
NM_001130987.2(DYSF):c.3928-19T>A rs1170842396
NM_001130987.2(DYSF):c.3930G>A (p.Val1310=)
NM_001130987.2(DYSF):c.3948C>T (p.Ile1316=) rs2093577208
NM_001130987.2(DYSF):c.3957+14G>A rs2546074639
NM_001130987.2(DYSF):c.3957+20dup rs2093578019
NM_001130987.2(DYSF):c.3957+7T>C rs2152861837
NM_001130987.2(DYSF):c.3958-13C>A rs1417797236
NM_001130987.2(DYSF):c.3958-13C>G rs1417797236
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 rs568840196
NM_001130987.2(DYSF):c.3958-8C>T rs2546125549
NM_001130987.2(DYSF):c.3958-8del rs2152874678
NM_001130987.2(DYSF):c.3972C>T (p.Asp1324=) rs2546125897
NM_001130987.2(DYSF):c.3975G>A (p.Leu1325=) rs2152874732
NM_001130987.2(DYSF):c.3975G>C (p.Leu1325=) rs2152874732
NM_001130987.2(DYSF):c.3975G>T (p.Leu1325=)
NM_001130987.2(DYSF):c.3978C>T (p.Pro1326=) rs2546125959
NM_001130987.2(DYSF):c.3994A>C (p.Arg1332=) rs1293876957
NM_001130987.2(DYSF):c.3999G>A (p.Glu1333=) rs2546126167
NM_001130987.2(DYSF):c.399G>A (p.Leu133=) rs1258988203
NM_001130987.2(DYSF):c.4008C>A (p.Ile1336=) rs1287172546
NM_001130987.2(DYSF):c.4023G>A (p.Gln1341=) rs2093754340
NM_001130987.2(DYSF):c.4032G>A (p.Lys1344=) rs2546126522
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4053C>T (p.Ala1351=) rs964824166
NM_001130987.2(DYSF):c.4059+15C>T
NM_001130987.2(DYSF):c.4059+16C>G rs2093756074
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 rs766224359
NM_001130987.2(DYSF):c.4060-14T>C rs1240369237
NM_001130987.2(DYSF):c.4060-16C>T rs1574339414
NM_001130987.2(DYSF):c.4060-17T>G rs891115351
NM_001130987.2(DYSF):c.4060-18C>T rs2152875134
NM_001130987.2(DYSF):c.4060-19C>T rs2152875131
NM_001130987.2(DYSF):c.4063C>T (p.Leu1355=) rs2152875185
NM_001130987.2(DYSF):c.4078C>A (p.Arg1360=) rs199870606
NM_001130987.2(DYSF):c.4089G>A (p.Lys1363=) rs545662465
NM_001130987.2(DYSF):c.408C>G (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.4113C>A (p.Ser1371=) rs2152875258
NM_001130987.2(DYSF):c.4116C>T (p.Ser1372=)
NM_001130987.2(DYSF):c.4119C>A (p.Pro1373=) rs775855517
NM_001130987.2(DYSF):c.411T>A (p.Pro137=) rs2545377180
NM_001130987.2(DYSF):c.4149G>T (p.Thr1383=) rs566381009
NM_001130987.2(DYSF):c.4152G>A (p.Val1384=) rs757771727
NM_001130987.2(DYSF):c.4152G>C (p.Val1384=) rs757771727
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.4176C>T (p.Leu1392=) rs2152875405
NM_001130987.2(DYSF):c.417T>G (p.Pro139=) rs2545377248
NM_001130987.2(DYSF):c.4185C>T (p.Asn1395=) rs769037989
NM_001130987.2(DYSF):c.4191C>T (p.Asn1397=) rs536906283
NM_001130987.2(DYSF):c.4197C>T (p.Asp1399=) rs2093763583
NM_001130987.2(DYSF):c.4200C>T (p.Ile1400=) rs2093763721
NM_001130987.2(DYSF):c.4206C>T (p.Thr1402=) rs2152875462
NM_001130987.2(DYSF):c.420G>A (p.Leu140=)
NM_001130987.2(DYSF):c.4221+18A>G rs2546131362
NM_001130987.2(DYSF):c.4221+8C>T rs2152875508
NM_001130987.2(DYSF):c.4222-11C>G rs748192393
NM_001130987.2(DYSF):c.4222-6A>T rs745775405
NM_001130987.2(DYSF):c.4239G>A (p.Glu1413=) rs2093790775
NM_001130987.2(DYSF):c.423G>A (p.Glu141=) rs2545377311
NM_001130987.2(DYSF):c.4242C>G (p.Leu1414=) rs952978128
NM_001130987.2(DYSF):c.4245C>T (p.Tyr1415=) rs2152876950
NM_001130987.2(DYSF):c.4248C>T (p.Cys1416=) rs971134497
NM_001130987.2(DYSF):c.4251C>T (p.Pro1417=)
NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser) rs151268930
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.4269C>T (p.Val1423=) rs2546142794
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.4296G>A (p.Arg1432=) rs1251098817
NM_001130987.2(DYSF):c.4308C>T (p.Gly1436=) rs2546143311
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4323C>A (p.Arg1441=) rs758538165
NM_001130987.2(DYSF):c.4326C>T (p.Ser1442=) rs2546143567
NM_001130987.2(DYSF):c.4327C>T (p.Leu1443=) rs2546143582
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.4335C>T (p.Ser1445=) rs2546143682
NM_001130987.2(DYSF):c.4339C>T (p.Leu1447=) rs2546143717
NM_001130987.2(DYSF):c.4344T>C (p.Cys1448=) rs2152877131
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.435T>G (p.Thr145=) rs1305158929
NM_001130987.2(DYSF):c.4362G>A (p.Glu1454=) rs748030995
NM_001130987.2(DYSF):c.4368A>T (p.Pro1456=) rs773002887
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.4387+11G>C rs867946204
NM_001130987.2(DYSF):c.4387+15G>A rs775715891
NM_001130987.2(DYSF):c.4387+16_4387+42del rs750290973
NM_001130987.2(DYSF):c.4387+20T>C rs764245722
NM_001130987.2(DYSF):c.4387+8A>G rs2093795894
NM_001130987.2(DYSF):c.4388-12C>T rs777518686
NM_001130987.2(DYSF):c.4388-16G>T rs2093809678
NM_001130987.2(DYSF):c.4388-5T>C rs2546149882
NM_001130987.2(DYSF):c.4388-7C>A rs1209019931
NM_001130987.2(DYSF):c.4388-7C>G rs1209019931
NM_001130987.2(DYSF):c.4388-9C>A rs2546149796
NM_001130987.2(DYSF):c.438G>A (p.Leu146=) rs2545377490
NM_001130987.2(DYSF):c.4399C>T (p.Leu1467=) rs2546150072
NM_001130987.2(DYSF):c.4401A>C (p.Leu1467=) rs2093810606
NM_001130987.2(DYSF):c.4401A>G (p.Leu1467=) rs2093810606
NM_001130987.2(DYSF):c.4401A>T (p.Leu1467=) rs2093810606
NM_001130987.2(DYSF):c.4404C>G (p.Leu1468=) rs745452114
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4437T>C (p.Asp1479=) rs760814903
NM_001130987.2(DYSF):c.4440C>T (p.Asp1480=) rs2546150590
NM_001130987.2(DYSF):c.4443G>A (p.Lys1481=) rs2152878085
NM_001130987.2(DYSF):c.4446G>A (p.Glu1482=) rs1463408383
NM_001130987.2(DYSF):c.4449C>G (p.Pro1483=) rs1214781238
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4455C>T (p.Ile1485=) rs758226677
NM_001130987.2(DYSF):c.4458C>T (p.Pro1486=) rs777688424
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4464+10G>A rs2546150960
NM_001130987.2(DYSF):c.4464+17C>T rs1574354915
NM_001130987.2(DYSF):c.4528-16C>G
NM_001130987.2(DYSF):c.4528-16C>T rs1295375286
NM_001130987.2(DYSF):c.4528-4T>C rs2152924642
NM_001130987.2(DYSF):c.4528-7C>G rs2152924630
NM_001130987.2(DYSF):c.4528-7C>T rs2152924630
NM_001130987.2(DYSF):c.4528-8C>T rs776766700
NM_001130987.2(DYSF):c.4545T>C (p.Asp1515=)
NM_001130987.2(DYSF):c.4554C>T (p.Ser1518=) rs2094528303
NM_001130987.2(DYSF):c.4557A>G (p.Lys1519=) rs2094528367
NM_001130987.2(DYSF):c.456G>A (p.Val152=) rs2152728786
NM_001130987.2(DYSF):c.4584A>G (p.Glu1528=)
NM_001130987.2(DYSF):c.4593C>T (p.Gly1531=) rs771116782
NM_001130987.2(DYSF):c.460+17G>A rs115170960
NM_001130987.2(DYSF):c.460+18G>A rs2545378072
NM_001130987.2(DYSF):c.460+18G>T
NM_001130987.2(DYSF):c.460+20C>T rs2086141776
NM_001130987.2(DYSF):c.460+9C>T rs1052225757
NM_001130987.2(DYSF):c.4617C>T (p.Asp1539=)
NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile) rs200809348
NM_001130987.2(DYSF):c.4626+11T>A rs760395487
NM_001130987.2(DYSF):c.4626+11T>C rs760395487
NM_001130987.2(DYSF):c.4626+13T>G
NM_001130987.2(DYSF):c.4626+15C>T rs2546398988
NM_001130987.2(DYSF):c.4626+16A>G rs2546399027
NM_001130987.2(DYSF):c.4626+9T>A rs2546398900
NM_001130987.2(DYSF):c.4627-13C>T rs2546474276
NM_001130987.2(DYSF):c.4627-14C>A rs2152937613
NM_001130987.2(DYSF):c.4627-14C>G rs2152937613
NM_001130987.2(DYSF):c.4627-14C>T rs2152937613
NM_001130987.2(DYSF):c.4627-18A>G rs2546474183
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=) rs756403845
NM_001130987.2(DYSF):c.4659C>T (p.Ala1553=) rs2546474758
NM_001130987.2(DYSF):c.4665G>A (p.Glu1555=) rs2094766440
NM_001130987.2(DYSF):c.4669C>T (p.Leu1557=) rs2546474831
NM_001130987.2(DYSF):c.4671G>C (p.Leu1557=) rs749333686
NM_001130987.2(DYSF):c.4680T>C (p.Phe1560=) rs2152937726
NM_001130987.2(DYSF):c.4689C>G (p.Thr1563=) rs2546475065
NM_001130987.2(DYSF):c.4704G>A (p.Arg1568=) rs2094767418
NM_001130987.2(DYSF):c.4719G>A (p.Glu1573=) rs2094767863
NM_001130987.2(DYSF):c.4731T>C (p.Asp1577=) rs2546475550
NM_001130987.2(DYSF):c.4737T>C (p.Ser1579=) rs2546475605
NM_001130987.2(DYSF):c.4755+7C>A rs2546475878
NM_001130987.2(DYSF):c.4755+8C>A rs1278005040
NM_001130987.2(DYSF):c.4756-12C>T rs2546493823
NM_001130987.2(DYSF):c.4756-17C>A rs1558749549
NM_001130987.2(DYSF):c.4756-17C>G rs1558749549
NM_001130987.2(DYSF):c.4756-17C>T rs1558749549
NM_001130987.2(DYSF):c.4756-19A>C rs2546493715
NM_001130987.2(DYSF):c.4756-8C>G rs866888887
NM_001130987.2(DYSF):c.4756-8C>T rs866888887
NM_001130987.2(DYSF):c.4776C>A (p.Pro1592=) rs2094826612
NM_001130987.2(DYSF):c.4776C>T (p.Pro1592=) rs2094826612
NM_001130987.2(DYSF):c.4779C>T (p.Leu1593=) rs1573009267
NM_001130987.2(DYSF):c.4794C>T (p.Ala1598=) rs2152940963
NM_001130987.2(DYSF):c.4806C>A (p.Pro1602=) rs774070544
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=) rs774070544
NM_001130987.2(DYSF):c.4814A>T (p.Gln1605Leu) rs747615403
NM_001130987.2(DYSF):c.4827G>A (p.Leu1609=) rs2152941036
NM_001130987.2(DYSF):c.4836G>A (p.Gln1612=) rs2094828072
NM_001130987.2(DYSF):c.4839A>C (p.Gly1613=) rs2094828104
NM_001130987.2(DYSF):c.4860T>C (p.Arg1620=) rs2152941080
NM_001130987.2(DYSF):c.4884C>T (p.Gly1628=) rs1211089520
NM_001130987.2(DYSF):c.4893C>G (p.Pro1631=) rs2152941108
NM_001130987.2(DYSF):c.4896G>A (p.Lys1632=) rs1453872151
NM_001130987.2(DYSF):c.4902C>A (p.Pro1634=) rs2152941119
NM_001130987.2(DYSF):c.4911+12A>G
NM_001130987.2(DYSF):c.4911+14A>G rs775880557
NM_001130987.2(DYSF):c.4911+14A>T rs775880557
NM_001130987.2(DYSF):c.4912-12C>T rs2152943150
NM_001130987.2(DYSF):c.4912-12CTC[2]
NM_001130987.2(DYSF):c.4912-7C>T rs770505669
NM_001130987.2(DYSF):c.4912-8T>A rs2152943167
NM_001130987.2(DYSF):c.4920T>G (p.Pro1640=) rs2152943187
NM_001130987.2(DYSF):c.4923C>T (p.Tyr1641=) rs376679461
NM_001130987.2(DYSF):c.4950A>C (p.Ser1650=) rs2546506063
NM_001130987.2(DYSF):c.4974C>A (p.Ile1658=) rs113744167
NM_001130987.2(DYSF):c.4982C>A (p.Thr1661Lys) rs144383140
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.4995A>G (p.Val1665=) rs2546506463
NM_001130987.2(DYSF):c.5003+11G>A rs2546506592
NM_001130987.2(DYSF):c.5003+11G>T
NM_001130987.2(DYSF):c.5003+18G>C rs2546506636
NM_001130987.2(DYSF):c.5003+18G>T rs2546506636
NM_001130987.2(DYSF):c.5003+19G>T rs2546506656
NM_001130987.2(DYSF):c.5003+20G>C rs2546506664
NM_001130987.2(DYSF):c.5003+9G>A rs2152943335
NM_001130987.2(DYSF):c.5004-10C>T rs749888904
NM_001130987.2(DYSF):c.5004-11C>A rs2094956070
NM_001130987.2(DYSF):c.5004-11C>T rs2094956070
NM_001130987.2(DYSF):c.5004-13G>C rs2546539741
NM_001130987.2(DYSF):c.5004-19G>A rs2546539725
NM_001130987.2(DYSF):c.5004-20G>C rs1306683223
NM_001130987.2(DYSF):c.5004-5T>G rs1228699996
NM_001130987.2(DYSF):c.5004-6C>T rs2546539853
NM_001130987.2(DYSF):c.5004-7C>T rs2094956144
NM_001130987.2(DYSF):c.5004-9C>T rs2546539817
NM_001130987.2(DYSF):c.5013G>A (p.Glu1671=) rs2546539960
NM_001130987.2(DYSF):c.5016G>C (p.Leu1672=) rs2152950660
NM_001130987.2(DYSF):c.5016G>T (p.Leu1672=) rs2152950660
NM_001130987.2(DYSF):c.5032C>T (p.Leu1678=)
NM_001130987.2(DYSF):c.5040G>A (p.Lys1680=) rs773321086
NM_001130987.2(DYSF):c.5061T>C (p.Tyr1687=) rs2546540241
NM_001130987.2(DYSF):c.5073C>T (p.Leu1691=) rs2546540336
NM_001130987.2(DYSF):c.5076C>T (p.Leu1692=) rs2152950734
NM_001130987.2(DYSF):c.5094C>A (p.Ile1698=) rs149087116
NM_001130987.2(DYSF):c.5100G>A (p.Glu1700=) rs2094957769
NM_001130987.2(DYSF):c.5106C>G (p.Val1702=) rs778238756
NM_001130987.2(DYSF):c.5113C>T (p.Leu1705=) rs940927932
NM_001130987.2(DYSF):c.5124G>A (p.Arg1708=) rs2094958060
NM_001130987.2(DYSF):c.5127G>A (p.Leu1709=) rs745944313
NM_001130987.2(DYSF):c.5130G>A (p.Leu1710=) rs768652010
NM_001130987.2(DYSF):c.5130G>C (p.Leu1710=) rs768652010
NM_001130987.2(DYSF):c.5160A>G (p.Pro1720=) rs2152950858
NM_001130987.2(DYSF):c.5174+11G>A rs372228018
NM_001130987.2(DYSF):c.5174+14G>C rs531408610
NM_001130987.2(DYSF):c.5174+18G>A
NM_001130987.2(DYSF):c.5174+7G>C rs2546541180
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.5174+9A>T rs2152950897
NM_001130987.2(DYSF):c.5175-11T>A
NM_001130987.2(DYSF):c.5175-15G>A rs2546546535
NM_001130987.2(DYSF):c.5175-16T>G rs2546546514
NM_001130987.2(DYSF):c.5175-8C>A rs1422813382
NM_001130987.2(DYSF):c.5175-8C>T rs1422813382
NM_001130987.2(DYSF):c.5178T>C (p.Ser1726=) rs2546546717
NM_001130987.2(DYSF):c.5190G>A (p.Gln1730=) rs2152951711
NM_001130987.2(DYSF):c.5194C>A (p.Arg1732=) rs863225021
NM_001130987.2(DYSF):c.5196G>A (p.Arg1732=) rs2152951718
NM_001130987.2(DYSF):c.5205C>T (p.Leu1735=) rs1024569123
NM_001130987.2(DYSF):c.5220C>T (p.Leu1740=) rs2546547103
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=) rs1558771751
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe) rs575920691
NM_001130987.2(DYSF):c.5241G>A (p.Gln1747=) rs2152951794
NM_001130987.2(DYSF):c.5247A>G (p.Arg1749=) rs750877853
NM_001130987.2(DYSF):c.5256A>G (p.Ala1752=) rs1160542117
NM_001130987.2(DYSF):c.5259T>A (p.Pro1753=) rs2546547486
NM_001130987.2(DYSF):c.5262G>A (p.Val1754=) rs1382463044
NM_001130987.2(DYSF):c.5301T>C (p.Tyr1767=) rs2546547705
NM_001130987.2(DYSF):c.5304C>T (p.Ser1768=) rs748704263
NM_001130987.2(DYSF):c.5317+10C>T rs2546547863
NM_001130987.2(DYSF):c.5317+9C>T rs2094976644
NM_001130987.2(DYSF):c.5318-13C>G rs2546560554
NM_001130987.2(DYSF):c.5318-18G>A rs778564283
NM_001130987.2(DYSF):c.5318-6G>T rs2152953906
NM_001130987.2(DYSF):c.5318-8del rs2152953900
NM_001130987.2(DYSF):c.5318-9C>T rs2152953894
NM_001130987.2(DYSF):c.5325C>G (p.Gly1775=) rs1465296402
NM_001130987.2(DYSF):c.5331C>T (p.Ile1777=) rs2152953932
NM_001130987.2(DYSF):c.5349C>T (p.Gly1783=) rs2546560949
NM_001130987.2(DYSF):c.5373G>T (p.Leu1791=)
NM_001130987.2(DYSF):c.5379G>A (p.Val1793=) rs2095035076
NM_001130987.2(DYSF):c.5388G>A (p.Gln1796=) rs2152954008
NM_001130987.2(DYSF):c.5400C>T (p.Val1800=) rs2152954016
NM_001130987.2(DYSF):c.5415G>A (p.Glu1805=) rs776985747
NM_001130987.2(DYSF):c.5421G>A (p.Arg1807=)
NM_001130987.2(DYSF):c.5421G>C (p.Arg1807=) rs1379550901
NM_001130987.2(DYSF):c.5436C>T (p.Pro1812=) rs1378250569
NM_001130987.2(DYSF):c.5439G>A (p.Leu1813=) rs2546561673
NM_001130987.2(DYSF):c.5442G>A (p.Gln1814=)
NM_001130987.2(DYSF):c.5457+11G>A rs777325226
NM_001130987.2(DYSF):c.5457+13C>T
NM_001130987.2(DYSF):c.5457+14C>G rs746503236
NM_001130987.2(DYSF):c.5457+17T>A rs1170354759
NM_001130987.2(DYSF):c.5457+19G>A rs1401458709
NM_001130987.2(DYSF):c.5457+8C>T rs2152954128
NM_001130987.2(DYSF):c.5457+9T>A rs2152954132
NM_001130987.2(DYSF):c.5458-10G>A rs1340953942
NM_001130987.2(DYSF):c.5458-13C>G rs766666241
NM_001130987.2(DYSF):c.5458-13C>T rs766666241
NM_001130987.2(DYSF):c.5458-4G>A rs749655069
NM_001130987.2(DYSF):c.5458-4G>T rs749655069
NM_001130987.2(DYSF):c.5460G>T (p.Gly1820=) rs549937720
NM_001130987.2(DYSF):c.5466G>A (p.Leu1822=) rs1252182958
NM_001130987.2(DYSF):c.5481C>T (p.Asp1827=) rs794727690
NM_001130987.2(DYSF):c.5496C>T (p.Ala1832=) rs1432671752
NM_001130987.2(DYSF):c.5502G>A (p.Gly1834=) rs2546571136
NM_001130987.2(DYSF):c.5505G>A (p.Arg1835=) rs763758260
NM_001130987.2(DYSF):c.5508T>C (p.Pro1836=) rs1286326701
NM_001130987.2(DYSF):c.5511A>G (p.Gly1837=) rs1573091416
NM_001130987.2(DYSF):c.5517C>T (p.Pro1839=) rs1454018550
NM_001130987.2(DYSF):c.554-12C>T rs112574902
NM_001130987.2(DYSF):c.554-4T>C rs2545395074
NM_001130987.2(DYSF):c.554-5C>A rs2545395062
NM_001130987.2(DYSF):c.554-7C>T rs2152731653
NM_001130987.2(DYSF):c.5546+10C>G rs2546571521
NM_001130987.2(DYSF):c.5546+12A>G rs2546571548
NM_001130987.2(DYSF):c.5546+15C>T rs2546571580
NM_001130987.2(DYSF):c.5546+18A>G rs534855764
NM_001130987.2(DYSF):c.5546+19G>C rs2546571627
NM_001130987.2(DYSF):c.5546+7T>C rs1573092033
NM_001130987.2(DYSF):c.5546+7del rs1374523172
NM_001130987.2(DYSF):c.5547-10C>T rs1275653427
NM_001130987.2(DYSF):c.5547-13T>C rs2152955889
NM_001130987.2(DYSF):c.5547-14A>T rs2152955887
NM_001130987.2(DYSF):c.5547-17G>C rs2546574868
NM_001130987.2(DYSF):c.5547-18A>C rs13398465
NM_001130987.2(DYSF):c.5547-4C>A rs373098428
NM_001130987.2(DYSF):c.5547-5C>T rs2546574974
NM_001130987.2(DYSF):c.5559T>C (p.Arg1853=) rs2152955921
NM_001130987.2(DYSF):c.555C>T (p.Asp185=) rs978264910
NM_001130987.2(DYSF):c.5565T>C (p.Ile1855=) rs1421293535
NM_001130987.2(DYSF):c.5586G>C (p.Val1862=) rs781377361
NM_001130987.2(DYSF):c.5601G>C (p.Leu1867=) rs2546575355
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5610G>C (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.5610G>T (p.Thr1870=) rs759960173
NM_001130987.2(DYSF):c.561A>T (p.Gly187=) rs1394054789
NM_001130987.2(DYSF):c.5642+14G>C rs377398673
NM_001130987.2(DYSF):c.5642+16C>T rs1488711633
NM_001130987.2(DYSF):c.5642+17C>A rs747900178
NM_001130987.2(DYSF):c.5643-10G>T rs2546579239
NM_001130987.2(DYSF):c.5643-11T>C rs1054477388
NM_001130987.2(DYSF):c.5643-12A>C
NM_001130987.2(DYSF):c.5643-16A>C rs2546579170
NM_001130987.2(DYSF):c.5643-8A>G rs2152956498
NM_001130987.2(DYSF):c.567G>A (p.Glu189=) rs1404449312
NM_001130987.2(DYSF):c.5685G>A (p.Val1895=)
NM_001130987.2(DYSF):c.5703A>T (p.Gly1901=) rs745544823
NM_001130987.2(DYSF):c.5712C>G (p.Gly1904=) rs2095084521
NM_001130987.2(DYSF):c.5718C>T (p.Phe1906=) rs1233961202
NM_001130987.2(DYSF):c.5727G>A (p.Arg1909=) rs1336670524
NM_001130987.2(DYSF):c.5730C>T (p.Phe1910=) rs2546579708
NM_001130987.2(DYSF):c.5733T>A (p.Ile1911=) rs775192916
NM_001130987.2(DYSF):c.5739C>G (p.Pro1913=) rs763546773
NM_001130987.2(DYSF):c.5760G>A (p.Glu1920=)
NM_001130987.2(DYSF):c.5769T>C (p.Cys1923=) rs2152956665
NM_001130987.2(DYSF):c.576A>G (p.Thr192=) rs2152731702
NM_001130987.2(DYSF):c.5778C>G (p.Ala1926=)
NM_001130987.2(DYSF):c.5778C>T (p.Ala1926=) rs2546580017
NM_001130987.2(DYSF):c.5784+13C>A rs2095086088
NM_001130987.2(DYSF):c.5784+15G>A rs1573100797
NM_001130987.2(DYSF):c.5784+15G>T rs1573100797
NM_001130987.2(DYSF):c.5784+20C>A rs2546580231
NM_001130987.2(DYSF):c.5784+7G>A rs2152956677
NM_001130987.2(DYSF):c.5784+8T>C rs1558788338
NM_001130987.2(DYSF):c.5784+9C>G rs753986968
NM_001130987.2(DYSF):c.5785-16T>C rs2546605905
NM_001130987.2(DYSF):c.5785-20C>G rs1430855097
NM_001130987.2(DYSF):c.5785-824C>A
NM_001130987.2(DYSF):c.5785-9C>T rs573892877
NM_001130987.2(DYSF):c.579G>A (p.Glu193=) rs2152731712
NM_001130987.2(DYSF):c.5802G>A (p.Leu1934=) rs767335937
NM_001130987.2(DYSF):c.5811T>A (p.Thr1937=) rs1558800137
NM_001130987.2(DYSF):c.5823C>T (p.Ile1941=) rs2152961305
NM_001130987.2(DYSF):c.5856T>C (p.Asn1952=) rs2152961391
NM_001130987.2(DYSF):c.5862G>A (p.Lys1954=) rs903493685
NM_001130987.2(DYSF):c.5865C>T (p.Phe1955=) rs2546606615
NM_001130987.2(DYSF):c.5880T>C (p.Phe1960=) rs2546606736
NM_001130987.2(DYSF):c.5884+12T>A rs2546606892
NM_001130987.2(DYSF):c.5884+16A>G rs1222913722
NM_001130987.2(DYSF):c.5884+17_5884+18delinsTT rs2152961473
NM_001130987.2(DYSF):c.5884+19A>G rs2546606956
NM_001130987.2(DYSF):c.5885-12T>A rs2546633453
NM_001130987.2(DYSF):c.5885-12T>C rs2546633453
NM_001130987.2(DYSF):c.5885-13C>A
NM_001130987.2(DYSF):c.5885-13C>T
NM_001130987.2(DYSF):c.5885-17_5885-16delinsGC rs2546633414
NM_001130987.2(DYSF):c.5885-3_5885-2insCAAAAACC
NM_001130987.2(DYSF):c.5885-4G>T rs747361237
NM_001130987.2(DYSF):c.5885-7G>A rs2546633493
NM_001130987.2(DYSF):c.5885-7_5885-6insCAAAAAC
NM_001130987.2(DYSF):c.5885-8T>C rs2152967711
NM_001130987.2(DYSF):c.5886C>T (p.Gly1962=)
NM_001130987.2(DYSF):c.5892G>A (p.Leu1964=) rs746083114
NM_001130987.2(DYSF):c.5898C>G (p.Leu1966=) rs770003593
NM_001130987.2(DYSF):c.5898C>T (p.Leu1966=) rs770003593
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5934C>T (p.Ala1978=) rs886043955
NM_001130987.2(DYSF):c.5943C>T (p.Cys1981=) rs2152967795
NM_001130987.2(DYSF):c.5946C>T (p.Ser1982=) rs140341988
NM_001130987.2(DYSF):c.594T>C (p.Thr198=) rs2545395552
NM_001130987.2(DYSF):c.5964T>C (p.Asp1988=) rs2546634134
NM_001130987.2(DYSF):c.5967T>C (p.Ala1989=) rs2152967832
NM_001130987.2(DYSF):c.5976A>T (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.5979A>G (p.Glu1993=) rs2546634258
NM_001130987.2(DYSF):c.5991C>G (p.Ser1997=) rs895509281
NM_001130987.2(DYSF):c.6000G>A (p.Glu2000=)
NM_001130987.2(DYSF):c.6012G>A (p.Val2004=) rs2546634441
NM_001130987.2(DYSF):c.6027C>G (p.Pro2009=)
NM_001130987.2(DYSF):c.6027C>T (p.Pro2009=) rs2546634528
NM_001130987.2(DYSF):c.6033A>G (p.Val2011=) rs2152967891
NM_001130987.2(DYSF):c.6036A>G (p.Ala2012=) rs1326205092
NM_001130987.2(DYSF):c.603G>A (p.Glu201=) rs765064954
NM_001130987.2(DYSF):c.6048G>A (p.Glu2016=) rs2152967903
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001130987.2(DYSF):c.6063+13C>T rs2546634759
NM_001130987.2(DYSF):c.6063+16C>T rs752264721
NM_001130987.2(DYSF):c.6063+19G>T
NM_001130987.2(DYSF):c.6063+7C>T rs2152967927
NM_001130987.2(DYSF):c.6063+9A>G rs2152967928
NM_001130987.2(DYSF):c.6064-12C>G rs1266171683
NM_001130987.2(DYSF):c.6064-14C>T rs2546643580
NM_001130987.2(DYSF):c.6064-5C>T rs2546643660
NM_001130987.2(DYSF):c.6064-8C>A rs375157612
NM_001130987.2(DYSF):c.6081C>A (p.Thr2027=) rs1392694054
NM_001130987.2(DYSF):c.6081C>T (p.Thr2027=) rs1392694054
NM_001130987.2(DYSF):c.6090T>A (p.Ile2030=) rs1038963029
NM_001130987.2(DYSF):c.6093A>G (p.Val2031=) rs2152969992
NM_001130987.2(DYSF):c.6096A>G (p.Ala2032=) rs761340591
NM_001130987.2(DYSF):c.6099G>A (p.Glu2033=) rs2546643849
NM_001130987.2(DYSF):c.6111G>A (p.Glu2037=) rs2152970015
NM_001130987.2(DYSF):c.6132C>T (p.Gly2044=) rs2095290228
NM_001130987.2(DYSF):c.6133C>A (p.Arg2045=) rs200921075
NM_001130987.2(DYSF):c.6141G>A (p.Glu2047=) rs1198097946
NM_001130987.2(DYSF):c.6156T>C (p.Pro2052=) rs1297729860
NM_001130987.2(DYSF):c.615C>T (p.Phe205=) rs2086352487
NM_001130987.2(DYSF):c.6168C>T (p.Asp2056=) rs745783874
NM_001130987.2(DYSF):c.6173+13C>G rs1479440203
NM_001130987.2(DYSF):c.6174-11C>T rs1435650068
NM_001130987.2(DYSF):c.6174-16G>C rs772651879
NM_001130987.2(DYSF):c.6174-4C>G rs2095309104
NM_001130987.2(DYSF):c.6174-7C>T rs2095309076
NM_001130987.2(DYSF):c.6174-8G>C rs777167646
NM_001130987.2(DYSF):c.6174-9C>G rs201070766
NM_001130987.2(DYSF):c.6177C>T (p.Arg2059=) rs2152971873
NM_001130987.2(DYSF):c.6186C>A (p.Thr2062=) rs1573203007
NM_001130987.2(DYSF):c.6189C>A (p.Ser2063=) rs200994941
NM_001130987.2(DYSF):c.618G>T (p.Leu206=) rs2545395759
NM_001130987.2(DYSF):c.6207C>A (p.Ser2069=) rs754974657
NM_001130987.2(DYSF):c.6207C>G (p.Ser2069=) rs754974657
NM_001130987.2(DYSF):c.6207C>T (p.Ser2069=) rs754974657
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=) rs372244975
NM_001130987.2(DYSF):c.6216G>A (p.Lys2072=) rs1398758921
NM_001130987.2(DYSF):c.6219C>G (p.Thr2073=) rs2546652404
NM_001130987.2(DYSF):c.6231C>A (p.Ile2077=) rs1277048306
NM_001130987.2(DYSF):c.6234G>T (p.Leu2078=) rs376588911
NM_001130987.2(DYSF):c.6249G>C (p.Arg2083=) rs886042758
NM_001130987.2(DYSF):c.6261C>T (p.Ile2087=) rs1273027581
NM_001130987.2(DYSF):c.6267C>T (p.Phe2089=) rs2546652729
NM_001130987.2(DYSF):c.6279C>T (p.Phe2093=) rs2546652811
NM_001130987.2(DYSF):c.6282C>A (p.Ile2094=) rs561011151
NM_001130987.2(DYSF):c.6286C>T (p.Leu2096=) rs1323707735
NM_001130987.2(DYSF):c.6303C>T (p.Ile2101=) rs2095310550
NM_001130987.2(DYSF):c.6321+19A>C rs2546653177
NM_001130987.2(DYSF):c.6321+20_6321+21del
NM_001130987.2(DYSF):c.6321+9G>A rs2095310764
NM_001130987.2(DYSF):c.6322-10C>T rs755660226
NM_001130987.2(DYSF):c.6322-15C>G rs756881241
NM_001130987.2(DYSF):c.6322-19G>T rs751319354
NM_001130987.2(DYSF):c.6322-4C>T rs774719311
NM_001130987.2(DYSF):c.6322-5_6322-4del
NM_001130987.2(DYSF):c.6330T>C (p.Ala2110=) rs2152976511
NM_001130987.2(DYSF):c.6333C>T (p.Ala2111=) rs2152976519
NM_001130987.2(DYSF):c.633C>A (p.Gly211=) rs755568424
NM_001130987.2(DYSF):c.633C>T (p.Gly211=) rs755568424
NM_001130987.2(DYSF):c.6340C>T (p.Leu2114=) rs1188699540
NM_001130987.2(DYSF):c.6345G>A (p.Val2115=) rs2546674764
NM_001130987.2(DYSF):c.6351C>T (p.Pro2117=) rs1434927162
NM_001130987.2(DYSF):c.636G>C (p.Pro212=)
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.657G>A (p.Arg219=) rs267599439
NM_001130987.2(DYSF):c.660A>G (p.Lys220=) rs2545396221
NM_001130987.2(DYSF):c.661C>T (p.Leu221=) rs13407355
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
NM_001130987.2(DYSF):c.696C>T (p.Ile232=) rs2152731924
NM_001130987.2(DYSF):c.702A>G (p.Arg234=) rs2152731933
NM_001130987.2(DYSF):c.705G>A (p.Lys235=) rs2086363454
NM_001130987.2(DYSF):c.747G>T (p.Pro249=) rs751402861
NM_001130987.2(DYSF):c.759+13C>A rs2545397593
NM_001130987.2(DYSF):c.759+8A>G rs2152732038
NM_001130987.2(DYSF):c.759+9C>G rs761537567
NM_001130987.2(DYSF):c.760-12T>C rs1235691658
NM_001130987.2(DYSF):c.760-14C>A rs2545412725
NM_001130987.2(DYSF):c.760-15C>A rs778696000
NM_001130987.2(DYSF):c.760-6T>C rs1219777786
NM_001130987.2(DYSF):c.760-7C>T rs2545412851
NM_001130987.2(DYSF):c.760-8_760-7insAT rs2086572242
NM_001130987.2(DYSF):c.762C>T (p.Ile254=) rs2545412983
NM_001130987.2(DYSF):c.765G>A (p.Arg255=) rs2152734356
NM_001130987.2(DYSF):c.780G>A (p.Glu260=) rs1290808194
NM_001130987.2(DYSF):c.783G>A (p.Gly261=) rs2152734405
NM_001130987.2(DYSF):c.798G>C (p.Gly266=)
NM_001130987.2(DYSF):c.798G>T (p.Gly266=) rs138466537
NM_001130987.2(DYSF):c.801G>A (p.Val267=) rs2086577446
NM_001130987.2(DYSF):c.813T>C (p.Pro271=) rs777369012
NM_001130987.2(DYSF):c.819C>A (p.Val273=) rs1573657928
NM_001130987.2(DYSF):c.819C>G (p.Val273=) rs1573657928
NM_001130987.2(DYSF):c.828C>A (p.Thr276=) rs376154300
NM_001130987.2(DYSF):c.831T>C (p.Ala277=) rs2545413749
NM_001130987.2(DYSF):c.843C>T (p.Thr281=)
NM_001130987.2(DYSF):c.847C>A (p.Arg283=) rs769180834
NM_001130987.2(DYSF):c.882C>T (p.Phe294=) rs2152734587
NM_001130987.2(DYSF):c.888+10A>G rs745505535
NM_001130987.2(DYSF):c.888+11T>A rs13428076
NM_001130987.2(DYSF):c.888+11del rs2545414346
NM_001130987.2(DYSF):c.888+12G>C rs1379023894
NM_001130987.2(DYSF):c.888+14G>C rs2152734640
NM_001130987.2(DYSF):c.888+17A>G rs1559053820
NM_001130987.2(DYSF):c.888+7G>A rs369722261
NM_001130987.2(DYSF):c.888+9C>T rs2152734615
NM_001130987.2(DYSF):c.889-10G>A rs1397924873
NM_001130987.2(DYSF):c.889-13T>G rs2545419362
NM_001130987.2(DYSF):c.889-15G>A rs2545419343
NM_001130987.2(DYSF):c.889-16T>C rs2086631061
NM_001130987.2(DYSF):c.889-4dup rs2086631948
NM_001130987.2(DYSF):c.889-9A>G rs2545419429
NM_001130987.2(DYSF):c.891T>C (p.Thr297=) rs2152735262
NM_001130987.2(DYSF):c.92-11G>A rs1334352542
NM_001130987.2(DYSF):c.92-12T>C rs2467167776
NM_001130987.2(DYSF):c.92-13G>C rs773206877
NM_001130987.2(DYSF):c.92-18C>G rs1421990252
NM_001130987.2(DYSF):c.92-19C>T rs1553508169
NM_001130987.2(DYSF):c.92-20C>T rs2467167578
NM_001130987.2(DYSF):c.92-4G>A rs1449269717
NM_001130987.2(DYSF):c.92-5T>C rs760837078
NM_001130987.2(DYSF):c.92-9C>T rs2152680440
NM_001130987.2(DYSF):c.925C>T (p.Leu309=) rs2152735318
NM_001130987.2(DYSF):c.933T>C (p.Asp311=) rs772708040
NM_001130987.2(DYSF):c.939C>T (p.Pro313=) rs2545420015
NM_001130987.2(DYSF):c.93G>A (p.Gly31=) rs2152680463
NM_001130987.2(DYSF):c.93G>C (p.Gly31=) rs2152680463
NM_001130987.2(DYSF):c.948C>T (p.Ile316=) rs2152735354
NM_001130987.2(DYSF):c.951+10A>G rs2545420296
NM_001130987.2(DYSF):c.951+11G>A rs1559055404
NM_001130987.2(DYSF):c.951+7C>G rs2545420232
NM_001130987.2(DYSF):c.951+8T>G rs2086639271
NM_001130987.2(DYSF):c.952-15del rs1486715361
NM_001130987.2(DYSF):c.952-6C>T rs772653237
NM_001130987.2(DYSF):c.952-9del rs2152736689
NM_001130987.2(DYSF):c.963T>G (p.Ser321=) rs2152736743
NM_001130987.2(DYSF):c.966T>C (p.Arg322=) rs759748502
NM_001130987.2(DYSF):c.975G>A (p.Arg325=)
NM_001130987.2(DYSF):c.978A>G (p.Thr326=) rs112007817
NM_001130987.2(DYSF):c.987C>G (p.Leu329=) rs2152736782
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) rs539484245
NM_001130987.2(DYSF):c.996G>A (p.Glu332=) rs2152736816
NM_003494.4(DYSF):c.1485G>A (p.Glu495=) rs944668036
NM_003494.4(DYSF):c.1491A>C (p.Ala497=) rs770384852
NM_003494.4(DYSF):c.1491A>G (p.Ala497=) rs770384852
NM_003494.4(DYSF):c.1503G>A (p.Lys501=)
NM_003494.4(DYSF):c.18C>T (p.Ile6=) rs2080944093
NM_003494.4(DYSF):c.27C>T (p.Ala9=) rs771520271
NM_003494.4(DYSF):c.30G>A (p.Glu10=) rs2080944921
NM_003494.4(DYSF):c.33C>T (p.Asn11=) rs760168438
NM_003494.4(DYSF):c.36C>T (p.Val12=) rs2466863373
NM_003494.4(DYSF):c.45C>G (p.Pro15=) rs2466863512
NM_003494.4(DYSF):c.45C>T (p.Pro15=) rs2466863512
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.63T>C (p.Asp21=) rs2152620814
NM_003494.4(DYSF):c.66C>A (p.Ala22=) rs2466863809
NM_003494.4(DYSF):c.72C>T (p.Cys24=) rs2080946956
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222
NM_003494.4(DYSF):c.88+10G>A rs1427806637
NM_003494.4(DYSF):c.88+11C>T rs2466864152
NM_003494.4(DYSF):c.88+12C>G rs555711336
NM_003494.4(DYSF):c.88+13G>A rs2466864195
NM_003494.4(DYSF):c.88+15C>A rs2466864214
NM_003494.4(DYSF):c.88+19C>T rs2466864259
NM_003494.4(DYSF):c.88+20C>T rs747986054
NM_003494.4(DYSF):c.9G>A (p.Arg3=) rs2152620707

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