ClinVar Miner

List of variants in gene DYSF reported as uncertain significance for Qualitative or quantitative defects of dysferlin

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Gene type:
ClinVar version:
Total variants: 791
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001130987.2(DYSF):c.3496+14C>T rs112034381 0.00297
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.*78C>T rs367543759 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.*75C>T rs374833260 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001130987.2(DYSF):c.*142G>A rs774156078 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_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.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) rs371609233 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001130987.2(DYSF):c.*179G>A rs886056284 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_001130987.2(DYSF):c.92-3T>C rs367833503 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=) rs201477760 0.00009
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser) rs753922932 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_003494.4(DYSF):c.-239C>G rs956974768 0.00008
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2860A>G (p.Lys954Glu) rs1038837599 0.00006
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 0.00006
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys) rs148171293 0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.5315T>C (p.Ile1772Thr) rs866367366 0.00006
NM_001130987.2(DYSF):c.5522A>G (p.Asn1841Ser) rs372204057 0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) rs755046419 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258 0.00004
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) rs574076669 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001130987.2(DYSF):c.2101G>A (p.Asp701Asn) rs998827835 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.3499G>A (p.Gly1167Arg) rs751942463 0.00004
NM_001130987.2(DYSF):c.4059+7C>T rs562567295 0.00004
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) rs776921154 0.00004
NM_003494.4(DYSF):c.-278G>C rs1477070599 0.00004
NM_001130987.2(DYSF):c.1321G>A (p.Glu441Lys) rs886043461 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1577-1646C>T rs763227235 0.00003
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.2216+6G>C rs747059895 0.00003
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) rs377196032 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710 0.00003
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00003
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser) rs200334333 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236 0.00003
NM_001130987.2(DYSF):c.3575-11G>A rs370058694 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu) rs767190885 0.00003
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136 0.00003
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) rs758688467 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849 0.00003
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His) rs372895279 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro) rs148739795 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 0.00003
NM_001130987.2(DYSF):c.1000C>T (p.Arg334Trp) rs184771575 0.00002
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) rs763604611 0.00002
NM_001130987.2(DYSF):c.1149+4A>G rs761302882 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) rs767805308 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) rs759015457 0.00002
NM_001130987.2(DYSF):c.247G>A (p.Gly83Arg) rs780227798 0.00002
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His) rs768637531 0.00002
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) rs766900434 0.00002
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) rs766204227 0.00002
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=) rs945602962 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3356T>A (p.Leu1119Gln) rs776495155 0.00002
NM_001130987.2(DYSF):c.3690C>T (p.Gly1230=) rs766754391 0.00002
NM_001130987.2(DYSF):c.3731T>G (p.Val1244Gly) rs750397218 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658 0.00002
NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys) rs749028996 0.00002
NM_001130987.2(DYSF):c.4322G>A (p.Arg1441His) rs753156321 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4896G>T (p.Lys1632Asn) rs1453872151 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5402C>T (p.Pro1801Leu) rs371189093 0.00002
NM_001130987.2(DYSF):c.5452G>A (p.Glu1818Lys) rs764947245 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.5906A>C (p.Asn1969Thr) rs775578484 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001130987.2(DYSF):c.671G>A (p.Arg224His) rs373032113 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn) rs529238728 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.1067C>T (p.Ser356Leu) rs1289536335 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.1183G>A (p.Asp395Asn) rs1333857093 0.00001
NM_001130987.2(DYSF):c.121A>T (p.Asn41Tyr) rs911341473 0.00001
NM_001130987.2(DYSF):c.1248G>C (p.Lys416Asn) rs745409058 0.00001
NM_001130987.2(DYSF):c.1271C>T (p.Pro424Leu) rs767800266 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1282G>A (p.Asp428Asn) rs762842080 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1480C>T (p.Arg494Cys) rs1192937487 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 0.00001
NM_001130987.2(DYSF):c.1646A>G (p.Glu549Gly) rs1042441672 0.00001
NM_001130987.2(DYSF):c.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1820G>A (p.Arg607Lys) rs776487688 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.191C>T (p.Ser64Phe) rs1224444546 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.1930A>G (p.Met644Val) rs773859302 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.2206G>A (p.Ala736Thr) rs1042263359 0.00001
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742 0.00001
NM_001130987.2(DYSF):c.239+5G>T rs556416924 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) rs754179180 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.2507G>A (p.Arg836Gln) rs754431230 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser) rs559305759 0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582 0.00001
NM_001130987.2(DYSF):c.2747G>A (p.Gly916Asp) rs749094860 0.00001
NM_001130987.2(DYSF):c.2809C>T (p.Arg937Cys) rs755270902 0.00001
NM_001130987.2(DYSF):c.2980-14G>A rs374508907 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3011T>C (p.Ile1004Thr) rs1257868987 0.00001
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) rs755791637 0.00001
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn) rs200943384 0.00001
NM_001130987.2(DYSF):c.3086-3C>A rs781636911 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr) rs776491058 0.00001
NM_001130987.2(DYSF):c.3268G>A (p.Ala1090Thr) rs34660230 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3338G>A (p.Arg1113His) rs917688073 0.00001
NM_001130987.2(DYSF):c.3365C>T (p.Thr1122Met) rs1000486931 0.00001
NM_001130987.2(DYSF):c.3449C>T (p.Thr1150Ile) rs772573340 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 0.00001
NM_001130987.2(DYSF):c.3550G>T (p.Ala1184Ser) rs369341163 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3680A>T (p.Glu1227Val) rs760974476 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3766G>A (p.Glu1256Lys) rs1291667876 0.00001
NM_001130987.2(DYSF):c.3788G>A (p.Cys1263Tyr) rs1417696397 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.3986C>A (p.Pro1329Gln) rs769615039 0.00001
NM_001130987.2(DYSF):c.4033C>T (p.Pro1345Ser) rs1253155257 0.00001
NM_001130987.2(DYSF):c.4150G>T (p.Val1384Leu) rs1404000468 0.00001
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) rs151109021 0.00001
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val) rs767309227 0.00001
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) rs779344280 0.00001
NM_001130987.2(DYSF):c.458C>T (p.Ala153Val) rs764206720 0.00001
NM_001130987.2(DYSF):c.4637C>T (p.Thr1546Ile) rs781670260 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4825C>G (p.Leu1609Val) rs2094827861 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.4889A>G (p.Gln1630Arg) rs754829594 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5063A>G (p.Asp1688Gly) rs1449452722 0.00001
NM_001130987.2(DYSF):c.5069A>T (p.Asp1690Val) rs776897492 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5174+4C>G rs781575037 0.00001
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln) rs762398889 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 0.00001
NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu) rs794727690 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5513C>T (p.Pro1838Leu) rs761575935 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) rs533781748 0.00001
NM_001130987.2(DYSF):c.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) rs768704227 0.00001
NM_001130987.2(DYSF):c.5594A>G (p.Asp1865Gly) rs773950181 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr) rs191052325 0.00001
NM_001130987.2(DYSF):c.5683G>A (p.Val1895Met) rs758389756 0.00001
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) rs777543798 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.5831G>A (p.Arg1944Gln) rs886043057 0.00001
NM_001130987.2(DYSF):c.583C>G (p.Gln195Glu) rs768872906 0.00001
NM_001130987.2(DYSF):c.5945C>G (p.Ser1982Cys) rs142160134 0.00001
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) rs1189744662 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.6167A>C (p.Asp2056Ala) rs925176602 0.00001
NM_001130987.2(DYSF):c.6176G>A (p.Arg2059His) rs763205852 0.00001
NM_001130987.2(DYSF):c.6179C>T (p.Pro2060Leu) rs764429879 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6242G>A (p.Arg2081His) rs927657254 0.00001
NM_001130987.2(DYSF):c.6332C>T (p.Ala2111Val) rs760938026 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.682C>A (p.His228Asn) rs146382803 0.00001
NM_001130987.2(DYSF):c.731T>C (p.Leu244Pro) rs1559048753 0.00001
NM_001130987.2(DYSF):c.857T>G (p.Ile286Ser) rs375448108 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) rs1375948337 0.00001
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) rs1386290894 0.00001
NC_000002.11:g.(?_71681129)_(71709120_?)dup
NC_000002.11:g.(?_71681129)_(71913622_?)dup
NC_000002.12:g.(?_71553001)_(71574381_?)dup
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.*9C>G rs2095358398
NM_001130987.2(DYSF):c.1002+3A>G rs1447141486
NM_001130987.2(DYSF):c.1003-3C>A rs2087101244
NM_001130987.2(DYSF):c.1019T>C (p.Ile340Thr)
NM_001130987.2(DYSF):c.1027G>A (p.Glu343Lys)
NM_001130987.2(DYSF):c.1027G>C (p.Glu343Gln)
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1037A>C (p.His346Pro) rs2087179153
NM_001130987.2(DYSF):c.1046T>G (p.Leu349Arg) rs2087180506
NM_001130987.2(DYSF):c.1057C>A (p.Leu353Met) rs752460236
NM_001130987.2(DYSF):c.1063C>A (p.Leu355Ile)
NM_001130987.2(DYSF):c.1077T>A (p.Asp359Glu) rs761584106
NM_001130987.2(DYSF):c.109A>G (p.Lys37Glu) rs2082828360
NM_001130987.2(DYSF):c.1102T>C (p.Tyr368His)
NM_001130987.2(DYSF):c.1111A>G (p.Thr371Ala)
NM_001130987.2(DYSF):c.1150-5T>G
NM_001130987.2(DYSF):c.1150C>G (p.Leu384Val) rs759896755
NM_001130987.2(DYSF):c.1187T>C (p.Ile396Thr)
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1204C>G (p.Arg402Gly)
NM_001130987.2(DYSF):c.1204C>T (p.Arg402Trp)
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1219G>A (p.Ala407Thr) rs1559079525
NM_001130987.2(DYSF):c.1220C>T (p.Ala407Val) rs2087892446
NM_001130987.2(DYSF):c.1226G>T (p.Arg409Leu) rs1224332034
NM_001130987.2(DYSF):c.1259_1261dup (p.Ala420dup) rs2152748674
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1270C>A (p.Pro424Thr)
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276A>C (p.Met426Leu)
NM_001130987.2(DYSF):c.1291A>G (p.Met431Val)
NM_001130987.2(DYSF):c.1308G>C (p.Gln436His)
NM_001130987.2(DYSF):c.131A>C (p.Asn44Thr) rs1478546068
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.134C>T (p.Pro45Leu) rs773503180
NM_001130987.2(DYSF):c.1356_1357delinsTC (p.Glu453Gln) rs2152751320
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1379T>C (p.Met460Thr)
NM_001130987.2(DYSF):c.1380G>A (p.Met460Ile)
NM_001130987.2(DYSF):c.1381-10T>A
NM_001130987.2(DYSF):c.1388G>T (p.Ser463Ile) rs1553535807
NM_001130987.2(DYSF):c.1392G>C (p.Lys464Asn)
NM_001130987.2(DYSF):c.1394T>A (p.Ile465Asn) rs2152760978
NM_001130987.2(DYSF):c.144T>A (p.Asn48Lys)
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu) rs1573810761
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile) rs750819109
NM_001130987.2(DYSF):c.1476G>C (p.Arg492Ser)
NM_001130987.2(DYSF):c.1544C>G (p.Ser515Trp)
NM_001130987.2(DYSF):c.1553C>T (p.Ser518Phe)
NM_001130987.2(DYSF):c.1565G>A (p.Gly522Glu) rs2089683887
NM_001130987.2(DYSF):c.1576+4T>A
NM_001130987.2(DYSF):c.1590G>A (p.Leu530=) rs2090907734
NM_001130987.2(DYSF):c.1631A>G (p.Tyr544Cys) rs767304788
NM_001130987.2(DYSF):c.1678C>G (p.Leu560Val)
NM_001130987.2(DYSF):c.1698A>C (p.Glu566Asp) rs1573933468
NM_001130987.2(DYSF):c.170G>A (p.Gly57Asp) rs2152682681
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.175C>A (p.Pro59Thr) rs1400538817
NM_001130987.2(DYSF):c.176C>G (p.Pro59Arg)
NM_001130987.2(DYSF):c.1775A>G (p.Asp592Gly)
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1832C>T (p.Ser611Phe)
NM_001130987.2(DYSF):c.1840G>A (p.Ala614Thr) rs998546221
NM_001130987.2(DYSF):c.1840G>T (p.Ala614Ser) rs998546221
NM_001130987.2(DYSF):c.1844C>G (p.Ala615Gly) rs893079344
NM_001130987.2(DYSF):c.1852T>C (p.Ser618Pro) rs2152790710
NM_001130987.2(DYSF):c.1881_1882inv (p.Ala628Thr)
NM_001130987.2(DYSF):c.1927G>A (p.Asp643Asn)
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1954A>G (p.Thr652Ala)
NM_001130987.2(DYSF):c.1966A>C (p.Ser656Arg) rs765366281
NM_001130987.2(DYSF):c.1968C>A (p.Ser656Arg) rs2091078877
NM_001130987.2(DYSF):c.1976_1984+3dup rs1573943846
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.2005C>T (p.Pro669Ser) rs2091141514
NM_001130987.2(DYSF):c.2023C>T (p.Pro675Ser) rs2091143336
NM_001130987.2(DYSF):c.2029G>A (p.Val677Met) rs2091143613
NM_001130987.2(DYSF):c.2042C>T (p.Ser681Phe)
NM_001130987.2(DYSF):c.2059A>G (p.Ser687Gly) rs113450735
NM_001130987.2(DYSF):c.205G>A (p.Val69Met) rs114986640
NM_001130987.2(DYSF):c.2070C>G (p.Ile690Met)
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2107C>T (p.Leu703=) rs74423119
NM_001130987.2(DYSF):c.2114C>A (p.Ala705Asp)
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser) rs1262272147
NM_001130987.2(DYSF):c.2156C>T (p.Ser719Phe) rs1225307062
NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)
NM_001130987.2(DYSF):c.2215A>G (p.Ser739Gly) rs1291971992
NM_001130987.2(DYSF):c.2216+16_2216+24del rs2152796251
NM_001130987.2(DYSF):c.2216+5G>A
NM_001130987.2(DYSF):c.2218C>G (p.Gln740Glu) rs1380192355
NM_001130987.2(DYSF):c.2237A>G (p.His746Arg)
NM_001130987.2(DYSF):c.2246C>T (p.Pro749Leu) rs2152803841
NM_001130987.2(DYSF):c.2249C>T (p.Ser750Phe) rs2091788398
NM_001130987.2(DYSF):c.224C>T (p.Thr75Met) rs767340310
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.229G>A (p.Gly77Arg)
NM_001130987.2(DYSF):c.2339A>G (p.His780Arg) rs2152803946
NM_001130987.2(DYSF):c.2341A>G (p.Ser781Gly) rs2091794465
NM_001130987.2(DYSF):c.2345A>G (p.Glu782Gly)
NM_001130987.2(DYSF):c.2350C>T (p.Pro784Ser) rs1466276981
NM_001130987.2(DYSF):c.2365_2409del45 (p.Gln789_Glu803del)
NM_001130987.2(DYSF):c.2371del (p.Glu791fs) rs1559162638
NM_001130987.2(DYSF):c.2374G>A (p.Asp792Asn) rs2152803988
NM_001130987.2(DYSF):c.240-3C>T rs1013317246
NM_001130987.2(DYSF):c.2404G>A (p.Glu802Lys)
NM_001130987.2(DYSF):c.2420G>C (p.Ser807Thr) rs886043898
NM_001130987.2(DYSF):c.2435T>A (p.Val812Asp)
NM_001130987.2(DYSF):c.2439C>G (p.Ile813Met) rs2091945245
NM_001130987.2(DYSF):c.2450A>G (p.Gln817Arg)
NM_001130987.2(DYSF):c.2476C>T (p.Arg826Trp) rs1345130790
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2486C>T (p.Ala829Val) rs2091948098
NM_001130987.2(DYSF):c.2489A>C (p.His830Pro) rs2091948551
NM_001130987.2(DYSF):c.2491C>G (p.Gln831Glu) rs2152806432
NM_001130987.2(DYSF):c.2509C>G (p.Arg837Gly)
NM_001130987.2(DYSF):c.2519A>G (p.Asn840Ser)
NM_001130987.2(DYSF):c.2528G>T (p.Gly843Val)
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.254C>A (p.Ala85Asp) rs772008300
NM_001130987.2(DYSF):c.2552C>G (p.Thr851Arg)
NM_001130987.2(DYSF):c.2569C>T (p.Pro857Ser) rs923314140
NM_001130987.2(DYSF):c.2590G>T (p.Ala864Ser)
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro) rs779790516
NM_001130987.2(DYSF):c.2635T>G (p.Ser879Ala)
NM_001130987.2(DYSF):c.2646G>C (p.Glu882Asp)
NM_001130987.2(DYSF):c.2650G>C (p.Glu884Gln) rs2092210085
NM_001130987.2(DYSF):c.2653T>A (p.Phe885Ile) rs2092210480
NM_001130987.2(DYSF):c.2666C>T (p.Ala889Val)
NM_001130987.2(DYSF):c.2680T>A (p.Ser894Thr) rs2092212282
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2698-3C>T rs2092221987
NM_001130987.2(DYSF):c.2702A>C (p.Glu901Ala) rs2152811264
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2779G>A (p.Gly927Ser) rs936655959
NM_001130987.2(DYSF):c.2789A>C (p.Lys930Thr)
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup) rs1172863089
NM_001130987.2(DYSF):c.2824T>G (p.Trp942Gly) rs780035723
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
NM_001130987.2(DYSF):c.2848G>A (p.Val950Met)
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2865-20T>C
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2872C>T (p.His958Tyr)
NM_001130987.2(DYSF):c.2875G>C (p.Asp959His) rs1553554968
NM_001130987.2(DYSF):c.287C>T (p.Pro96Leu) rs774912908
NM_001130987.2(DYSF):c.2888G>A (p.Gly963Asp)
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.2971A>G (p.Thr991Ala)
NM_001130987.2(DYSF):c.2972C>T (p.Thr991Ile) rs2152814108
NM_001130987.2(DYSF):c.2974G>C (p.Asp992His) rs200422222
NM_001130987.2(DYSF):c.2976T>A (p.Asp992Glu) rs1328741092
NM_001130987.2(DYSF):c.2977G>A (p.Val993Met)
NM_001130987.2(DYSF):c.298G>A (p.Ala100Thr)
NM_001130987.2(DYSF):c.3010A>G (p.Ile1004Val) rs1559183642
NM_001130987.2(DYSF):c.301A>G (p.Ser101Gly) rs1553518141
NM_001130987.2(DYSF):c.3020C>T (p.Pro1007Leu)
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3070G>C (p.Ala1024Pro)
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3085+3G>A
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.3108C>G (p.Ile1036Met)
NM_001130987.2(DYSF):c.3113C>A (p.Pro1038Gln) rs764931697
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3149A>T (p.Lys1050Met) rs1338389103
NM_001130987.2(DYSF):c.3155A>G (p.Tyr1052Cys) rs1553556062
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.320T>C (p.Leu107Pro) rs2152715793
NM_001130987.2(DYSF):c.3229C>G (p.His1077Asp)
NM_001130987.2(DYSF):c.3275T>C (p.Leu1092Pro)
NM_001130987.2(DYSF):c.3295C>T (p.Leu1099Phe) rs770433229
NM_001130987.2(DYSF):c.3313G>A (p.Asp1105Asn)
NM_001130987.2(DYSF):c.3322C>A (p.Arg1108Ser)
NM_001130987.2(DYSF):c.3322CGC[3] (p.Arg1111del) rs779680055
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys) rs765271624
NM_001130987.2(DYSF):c.3332G>T (p.Arg1111Leu)
NM_001130987.2(DYSF):c.3337C>A (p.Arg1113Ser)
NM_001130987.2(DYSF):c.3337C>G (p.Arg1113Gly) rs141536854
NM_001130987.2(DYSF):c.3350A>G (p.Glu1117Gly) rs2152823191
NM_001130987.2(DYSF):c.3397G>A (p.Ala1133Thr)
NM_001130987.2(DYSF):c.3398C>T (p.Ala1133Val)
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3406G>T (p.Gly1136Cys) rs202000264
NM_001130987.2(DYSF):c.344G>T (p.Gly115Val)
NM_001130987.2(DYSF):c.346-17C>G rs370498369
NM_001130987.2(DYSF):c.3461G>A (p.Gly1154Asp)
NM_001130987.2(DYSF):c.3484T>C (p.Cys1162Arg) rs1353308560
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3496T>C (p.Tyr1166His) rs2152842558
NM_001130987.2(DYSF):c.3497-13T>A
NM_001130987.2(DYSF):c.3508T>C (p.Tyr1170His) rs749405808
NM_001130987.2(DYSF):c.3512A>G (p.His1171Arg)
NM_001130987.2(DYSF):c.3526A>G (p.Met1176Val)
NM_001130987.2(DYSF):c.3556G>A (p.Asp1186Asn)
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3589G>A (p.Val1197Ile)
NM_001130987.2(DYSF):c.3617C>T (p.Thr1206Met)
NM_001130987.2(DYSF):c.3634A>C (p.Thr1212Pro)
NM_001130987.2(DYSF):c.3673G>A (p.Glu1225Lys) rs773703042
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3679G>A (p.Glu1227Lys)
NM_001130987.2(DYSF):c.3695C>G (p.Pro1232Arg)
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3756+5G>A rs2093467146
NM_001130987.2(DYSF):c.3772A>G (p.Met1258Val)
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3829C>T (p.Pro1277Ser) rs2093531034
NM_001130987.2(DYSF):c.3836C>A (p.Thr1279Lys) rs202013788
NM_001130987.2(DYSF):c.3859_3860delinsAT (p.Glu1287Met)
NM_001130987.2(DYSF):c.3863T>C (p.Leu1288Pro) rs886042828
NM_001130987.2(DYSF):c.3887A>G (p.Gln1296Arg)
NM_001130987.2(DYSF):c.3898-10_3898-9insGAT rs775213642
NM_001130987.2(DYSF):c.3898-3C>T
NM_001130987.2(DYSF):c.3898-5T>G rs2152859964
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.391G>C (p.Val131Leu)
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.3976C>T (p.Pro1326Ser)
NM_001130987.2(DYSF):c.4025A>C (p.Asn1342Thr)
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) rs760074198
NM_001130987.2(DYSF):c.4059+3G>A
NM_001130987.2(DYSF):c.4086G>C (p.Met1362Ile) rs2152875227
NM_001130987.2(DYSF):c.4093T>G (p.Tyr1365Asp)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4112C>T (p.Ser1371Phe)
NM_001130987.2(DYSF):c.4173C>A (p.Asn1391Lys)
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
NM_001130987.2(DYSF):c.4218A>T (p.Glu1406Asp) rs764161356
NM_001130987.2(DYSF):c.4221+1_4221+3del rs1189803641
NM_001130987.2(DYSF):c.4228C>T (p.Pro1410Ser)
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) rs775254512
NM_001130987.2(DYSF):c.4247G>A (p.Cys1416Tyr)
NM_001130987.2(DYSF):c.4249C>G (p.Pro1417Ala) rs376134165
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.427T>A (p.Ser143Thr)
NM_001130987.2(DYSF):c.4280G>T (p.Arg1427Leu)
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.4295G>T (p.Arg1432Leu) rs761337469
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) rs139654844
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys) rs1454165770
NM_001130987.2(DYSF):c.4331A>C (p.Glu1444Ala)
NM_001130987.2(DYSF):c.4349C>A (p.Pro1450His)
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4377G>C (p.Gln1459His)
NM_001130987.2(DYSF):c.4382_4383delinsTT (p.Gly1461Val)
NM_001130987.2(DYSF):c.4388-17G>A rs1228239502
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn) rs927765259
NM_001130987.2(DYSF):c.4419C>A (p.Asp1473Glu) rs374705038
NM_001130987.2(DYSF):c.4421T>C (p.Val1474Ala) rs1574354256
NM_001130987.2(DYSF):c.4426A>G (p.Ile1476Val)
NM_001130987.2(DYSF):c.4428C>G (p.Ile1476Met)
NM_001130987.2(DYSF):c.4433T>G (p.Ile1478Ser)
NM_001130987.2(DYSF):c.443A>G (p.Asp148Gly) rs113919086
NM_001130987.2(DYSF):c.4445A>G (p.Glu1482Gly) rs2093811879
NM_001130987.2(DYSF):c.4447C>T (p.Pro1483Ser) rs2152878098
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4547G>C (p.Trp1516Ser) rs755781770
NM_001130987.2(DYSF):c.4560C>A (p.Phe1520Leu) rs544993852
NM_001130987.2(DYSF):c.4585A>G (p.Lys1529Glu)
NM_001130987.2(DYSF):c.458C>G (p.Ala153Gly)
NM_001130987.2(DYSF):c.4597T>A (p.Tyr1533Asn)
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) rs2094765878
NM_001130987.2(DYSF):c.4636A>G (p.Thr1546Ala)
NM_001130987.2(DYSF):c.4642C>A (p.Leu1548Met) rs2152937667
NM_001130987.2(DYSF):c.4643T>G (p.Leu1548Arg)
NM_001130987.2(DYSF):c.4681T>G (p.Cys1561Gly)
NM_001130987.2(DYSF):c.4682G>C (p.Cys1561Ser) rs2152937732
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) rs751126464
NM_001130987.2(DYSF):c.4755+6T>C rs778837009
NM_001130987.2(DYSF):c.4765A>G (p.Lys1589Glu) rs2094826436
NM_001130987.2(DYSF):c.4768A>G (p.Ile1590Val)
NM_001130987.2(DYSF):c.4774C>T (p.Pro1592Ser) rs1406317660
NM_001130987.2(DYSF):c.4788C>G (p.Asp1596Glu)
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) rs768130248
NM_001130987.2(DYSF):c.4801A>T (p.Met1601Leu) rs768130248
NM_001130987.2(DYSF):c.4808C>T (p.Pro1603Leu) rs2094827462
NM_001130987.2(DYSF):c.4809A>C (p.Pro1603=)
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
NM_001130987.2(DYSF):c.4821C>A (p.His1607Gln)
NM_001130987.2(DYSF):c.4838G>A (p.Gly1613Glu)
NM_001130987.2(DYSF):c.4841C>G (p.Pro1614Arg) rs2152941060
NM_001130987.2(DYSF):c.4844A>G (p.Gln1615Arg)
NM_001130987.2(DYSF):c.4858C>G (p.Arg1620Gly) rs752946123
NM_001130987.2(DYSF):c.4859G>T (p.Arg1620Leu)
NM_001130987.2(DYSF):c.4865A>G (p.Tyr1622Cys) rs797045541
NM_001130987.2(DYSF):c.4883G>A (p.Gly1628Asp)
NM_001130987.2(DYSF):c.4886T>C (p.Leu1629Pro)
NM_001130987.2(DYSF):c.4894A>G (p.Lys1632Glu)
NM_001130987.2(DYSF):c.4911+5C>A rs971480261
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>C (p.Lys1637Asn)
NM_001130987.2(DYSF):c.4918C>T (p.Pro1640Ser)
NM_001130987.2(DYSF):c.4924A>G (p.Ile1642Val)
NM_001130987.2(DYSF):c.4952T>C (p.Val1651Ala) rs2152943225
NM_001130987.2(DYSF):c.4961A>G (p.Gln1654Arg) rs2094861025
NM_001130987.2(DYSF):c.5003+6T>C
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.2(DYSF):c.5074C>T (p.Leu1692Phe)
NM_001130987.2(DYSF):c.5095G>T (p.Gly1699Cys)
NM_001130987.2(DYSF):c.5105TCG[1] (p.Val1703del)
NM_001130987.2(DYSF):c.5138T>C (p.Phe1713Ser) rs886044317
NM_001130987.2(DYSF):c.5139T>G (p.Phe1713Leu) rs1305077427
NM_001130987.2(DYSF):c.5144C>A (p.Ala1715Asp) rs761625265
NM_001130987.2(DYSF):c.5171G>A (p.Cys1724Tyr) rs777984362
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro) rs1573060017
NM_001130987.2(DYSF):c.5199C>A (p.Asp1733Glu) rs2094973647
NM_001130987.2(DYSF):c.5202G>C (p.Gln1734His) rs749455148
NM_001130987.2(DYSF):c.5221C>T (p.Leu1741Phe)
NM_001130987.2(DYSF):c.5222T>C (p.Leu1741Pro) rs1553413187
NM_001130987.2(DYSF):c.5296G>C (p.Glu1766Gln) rs2094975881
NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr) rs886042493
NM_001130987.2(DYSF):c.5318-3C>T rs2152953913
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) rs1573078295
NM_001130987.2(DYSF):c.5339C>T (p.Pro1780Leu) rs2095034360
NM_001130987.2(DYSF):c.5347G>A (p.Gly1783Ser) rs759748127
NM_001130987.2(DYSF):c.5374C>T (p.His1792Tyr)
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) rs753644501
NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe) rs1558778541
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg) rs1558778744
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln) rs375787986
NM_001130987.2(DYSF):c.5446G>A (p.Asp1816Asn) rs2152954089
NM_001130987.2(DYSF):c.5450T>C (p.Ile1817Thr) rs753632964
NM_001130987.2(DYSF):c.5458-11T>G
NM_001130987.2(DYSF):c.5458-5C>G
NM_001130987.2(DYSF):c.5468A>G (p.Gln1823Arg)
NM_001130987.2(DYSF):c.5486T>C (p.Phe1829Ser)
NM_001130987.2(DYSF):c.5501G>T (p.Gly1834Val) rs994023902
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.554-3T>C
NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val) rs1436866611
NM_001130987.2(DYSF):c.5560T>C (p.Cys1854Arg) rs1558785198
NM_001130987.2(DYSF):c.556A>G (p.Thr186Ala) rs977005248
NM_001130987.2(DYSF):c.5572A>T (p.Asn1858Tyr)
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) rs886043339
NM_001130987.2(DYSF):c.5585T>G (p.Val1862Gly)
NM_001130987.2(DYSF):c.559G>C (p.Gly187Arg)
NM_001130987.2(DYSF):c.5608A>T (p.Thr1870Ser)
NM_001130987.2(DYSF):c.5611G>A (p.Gly1871Arg)
NM_001130987.2(DYSF):c.5624G>A (p.Ser1875Asn)
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5651T>C (p.Ile1884Thr)
NM_001130987.2(DYSF):c.5656T>A (p.Phe1886Ile)
NM_001130987.2(DYSF):c.5684T>A (p.Val1895Glu)
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.2(DYSF):c.5713A>G (p.Asn1905Asp) rs2152956597
NM_001130987.2(DYSF):c.5722T>C (p.Trp1908Arg) rs2152956607
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5736C>G (p.Phe1912Leu) rs2152956624
NM_001130987.2(DYSF):c.5737C>G (p.Pro1913Ala) rs1257277890
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5756C>G (p.Ala1919Gly)
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5771C>T (p.Thr1924Ile) rs2095085566
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.5789C>A (p.Ala1930Asp)
NM_001130987.2(DYSF):c.5789C>G (p.Ala1930Gly) rs1346535569
NM_001130987.2(DYSF):c.5789C>T (p.Ala1930Val) rs1346535569
NM_001130987.2(DYSF):c.5853C>A (p.Asp1951Glu) rs773560454
NM_001130987.2(DYSF):c.5876A>G (p.Asp1959Gly) rs2152961436
NM_001130987.2(DYSF):c.587G>A (p.Gly196Glu)
NM_001130987.2(DYSF):c.5887T>C (p.Ser1963Pro) rs2152967724
NM_001130987.2(DYSF):c.5921CAGCCAAGA[1] (p.Thr1977_Lys1979del)
NM_001130987.2(DYSF):c.5921CAGCCAAGA[3] (p.Thr1977_Lys1979dup) rs2152967769
NM_001130987.2(DYSF):c.5926A>G (p.Lys1976Glu)
NM_001130987.2(DYSF):c.5939A>C (p.Lys1980Thr)
NM_001130987.2(DYSF):c.5942G>A (p.Cys1981Tyr) rs1235452257
NM_001130987.2(DYSF):c.5944T>C (p.Ser1982Pro)
NM_001130987.2(DYSF):c.5947T>G (p.Leu1983Val) rs2152967809
NM_001130987.2(DYSF):c.5990C>G (p.Ser1997Cys)
NM_001130987.2(DYSF):c.5992C>G (p.Leu1998Val) rs746241195
NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg) rs886043194
NM_001130987.2(DYSF):c.603G>A (p.Glu201=) rs765064954
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6129G>T (p.Gln2043His)
NM_001130987.2(DYSF):c.6131G>A (p.Gly2044Asp) rs2152970043
NM_001130987.2(DYSF):c.6168C>A (p.Asp2056Glu)
NM_001130987.2(DYSF):c.6170C>A (p.Pro2057Gln)
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.6181G>A (p.Asp2061Asn)
NM_001130987.2(DYSF):c.6203C>T (p.Thr2068Ile)
NM_001130987.2(DYSF):c.624A>C (p.Gln208His)
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001130987.2(DYSF):c.6306C>G (p.Phe2102Leu) rs2152972132
NM_001130987.2(DYSF):c.6311A>T (p.Tyr2104Phe) rs2152972138
NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val) rs886043805
NM_001130987.2(DYSF):c.6321+3G>A rs2152972162
NM_001130987.2(DYSF):c.6340C>G (p.Leu2114Val) rs1188699540
NM_001130987.2(DYSF):c.6358T>G (p.Ter2120Gly) rs1327953255
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) rs759455142
NM_001130987.2(DYSF):c.650C>T (p.Thr217Ile) rs1328959597
NM_001130987.2(DYSF):c.676C>G (p.Pro226Ala) rs756606518
NM_001130987.2(DYSF):c.695T>A (p.Ile232Asn) rs1388145373
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) rs373585652
NM_001130987.2(DYSF):c.716C>T (p.Pro239Leu)
NM_001130987.2(DYSF):c.751G>A (p.Asp251Asn) rs1573644238
NM_001130987.2(DYSF):c.778G>A (p.Glu260Lys)
NM_001130987.2(DYSF):c.781G>C (p.Gly261Arg)
NM_001130987.2(DYSF):c.823G>T (p.Val275Phe)
NM_001130987.2(DYSF):c.829G>A (p.Ala277Thr) rs770518944
NM_001130987.2(DYSF):c.832G>T (p.Ala278Ser)
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp) rs769180834
NM_001130987.2(DYSF):c.861C>A (p.His287Gln) rs2152734543
NM_001130987.2(DYSF):c.870C>G (p.Asn290Lys) rs766315212
NM_001130987.2(DYSF):c.872G>A (p.Ser291Asn)
NM_001130987.2(DYSF):c.888+5G>A rs757011960
NM_001130987.2(DYSF):c.888G>A (p.Glu296=)
NM_001130987.2(DYSF):c.901A>G (p.Asn301Asp)
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.951+4_951+5delinsCC rs2086638627
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) rs776921154
NM_001130987.2(DYSF):c.980A>G (p.Asp327Gly) rs2086728317
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) rs1314586455
NM_001130987.2(DYSF):c.989T>G (p.Leu330Arg) rs2152736786
NM_001130987.2(DYSF):c.98A>G (p.Lys33Arg) rs539484245
NM_003494.4(DYSF):c.-274T>G rs1573204708
NM_003494.4(DYSF):c.-327G>T rs535087290
NM_003494.4(DYSF):c.11T>G (p.Val4Gly)
NM_003494.4(DYSF):c.1484A>C (p.Glu495Ala)
NM_003494.4(DYSF):c.1486C>A (p.Pro496Thr) rs368577086
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.4(DYSF):c.1498G>A (p.Val500Ile) rs2152783863
NM_003494.4(DYSF):c.1508C>G (p.Ser503Trp)
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.4(DYSF):c.19C>T (p.Leu7Phe)
NM_003494.4(DYSF):c.25G>A (p.Ala9Thr)
NM_003494.4(DYSF):c.34G>T (p.Val12Phe)
NM_003494.4(DYSF):c.49A>G (p.Thr17Ala) rs2080945647
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.68A>G (p.Tyr23Cys)
NM_003494.4(DYSF):c.88G>C (p.Gly30Arg) rs767637508
NM_003494.4(DYSF):c.9G>C (p.Arg3Ser)

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