ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 479
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09164
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01935
NM_033118.4(MYLK2):c.1104C>T (p.Phe368=) rs6089088 0.01807
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp) rs115398036 0.01263
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01142
NM_033118.4(MYLK2):c.1711-6C>T rs76603530 0.00376
NM_033118.4(MYLK2):c.1711-20C>G rs189282373 0.00356
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00196
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00170
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00157
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00141
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00048
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00036
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00027
NM_033118.4(MYLK2):c.473+11C>T rs373880854 0.00027
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00027
NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn) rs587782968 0.00025
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00017
NM_033118.4(MYLK2):c.726G>A (p.Gln242=) rs145772898 0.00017
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_033118.4(MYLK2):c.381G>A (p.Arg127=) rs141524173 0.00013
NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys) rs192056427 0.00013
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00012
NM_033118.4(MYLK2):c.828C>T (p.Thr276=) rs370429139 0.00011
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=) rs374233822 0.00010
NM_033118.4(MYLK2):c.1225-20G>T rs368839195 0.00009
NM_033118.4(MYLK2):c.1605C>T (p.Leu535=) rs780842075 0.00009
NM_033118.4(MYLK2):c.1649G>A (p.Cys550Tyr) rs771059154 0.00009
NM_033118.4(MYLK2):c.261G>A (p.Ala87=) rs374353729 0.00009
NM_033118.4(MYLK2):c.288C>T (p.Ala96=) rs371130292 0.00009
NM_033118.4(MYLK2):c.987G>A (p.Leu329=) rs200155693 0.00009
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.1105G>A (p.Glu369Lys) rs371807668 0.00007
NM_033118.4(MYLK2):c.1295+12G>C rs191338438 0.00007
NM_033118.4(MYLK2):c.223G>A (p.Gly75Ser) rs746102821 0.00007
NM_033118.4(MYLK2):c.282G>A (p.Pro94=) rs200710399 0.00007
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00007
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys) rs763678910 0.00006
NM_033118.4(MYLK2):c.105C>T (p.Asp35=) rs551492045 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=) rs147329431 0.00006
NM_033118.4(MYLK2):c.1479C>T (p.Asn493=) rs141415487 0.00006
NM_033118.4(MYLK2):c.1510G>C (p.Glu504Gln) rs564539888 0.00006
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) rs139331477 0.00006
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) rs750548324 0.00006
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 0.00006
NM_033118.4(MYLK2):c.572C>T (p.Ala191Val) rs778578033 0.00006
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_033118.4(MYLK2):c.1710+5C>T rs574644297 0.00005
NM_033118.4(MYLK2):c.5C>T (p.Ala2Val) rs373406874 0.00005
NM_033118.4(MYLK2):c.1377C>A (p.Ile459=) rs751829959 0.00004
NM_033118.4(MYLK2):c.1401T>C (p.Ser467=) rs770625966 0.00004
NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys) rs765059037 0.00004
NM_033118.4(MYLK2):c.1731C>T (p.Ser577=) rs772804572 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.507C>T (p.Ser169=) rs374538348 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.714C>T (p.Ser238=) rs374323310 0.00004
NM_033118.4(MYLK2):c.748G>C (p.Glu250Gln) rs1085307713 0.00004
NM_033118.4(MYLK2):c.1047C>T (p.Ile349=) rs751038976 0.00003
NM_033118.4(MYLK2):c.1055C>T (p.Pro352Leu) rs549697670 0.00003
NM_033118.4(MYLK2):c.1225-14C>A rs759607876 0.00003
NM_033118.4(MYLK2):c.1248C>T (p.Asn416=) rs138459623 0.00003
NM_033118.4(MYLK2):c.1254C>T (p.Thr418=) rs575681305 0.00003
NM_033118.4(MYLK2):c.135G>A (p.Pro45=) rs370435116 0.00003
NM_033118.4(MYLK2):c.1380C>T (p.Ser460=) rs777799897 0.00003
NM_033118.4(MYLK2):c.1505A>G (p.Asp502Gly) rs759960723 0.00003
NM_033118.4(MYLK2):c.1524C>T (p.Ala508=) rs377328892 0.00003
NM_033118.4(MYLK2):c.1533C>T (p.Asp511=) rs201144061 0.00003
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser) rs775059729 0.00003
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys) rs368444888 0.00003
NM_033118.4(MYLK2):c.1632G>A (p.Ala544=) rs772321212 0.00003
NM_033118.4(MYLK2):c.1646G>A (p.Arg549His) rs551868924 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys) rs772716379 0.00003
NM_033118.4(MYLK2):c.1774A>G (p.Met592Val) rs781492844 0.00003
NM_033118.4(MYLK2):c.184G>A (p.Gly62Arg) rs755363421 0.00003
NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile) rs747109352 0.00003
NM_033118.4(MYLK2):c.293C>T (p.Pro98Leu) rs766074380 0.00003
NM_033118.4(MYLK2):c.551G>A (p.Ser184Asn) rs112657833 0.00003
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00003
NM_033118.4(MYLK2):c.6G>A (p.Ala2=) rs201983158 0.00003
NM_033118.4(MYLK2):c.1022A>G (p.Asn341Ser) rs776210812 0.00002
NM_033118.4(MYLK2):c.1082+10C>T rs770363702 0.00002
NM_033118.4(MYLK2):c.1083-4A>G rs369435472 0.00002
NM_033118.4(MYLK2):c.125A>G (p.Lys42Arg) rs150342605 0.00002
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala) rs878855173 0.00002
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1424+13G>A rs371900250 0.00002
NM_033118.4(MYLK2):c.1424+15G>A rs762322372 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_033118.4(MYLK2):c.1480G>A (p.Val494Ile) rs768264478 0.00002
NM_033118.4(MYLK2):c.1578-17T>C rs892663559 0.00002
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr) rs749619576 0.00002
NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser) rs199791180 0.00002
NM_033118.4(MYLK2):c.227C>T (p.Pro76Leu) rs775335331 0.00002
NM_033118.4(MYLK2):c.258C>T (p.Pro86=) rs149280577 0.00002
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val) rs763316056 0.00002
NM_033118.4(MYLK2):c.373A>G (p.Lys125Glu) rs774114072 0.00002
NM_033118.4(MYLK2):c.474-7C>T rs773417120 0.00002
NM_033118.4(MYLK2):c.519G>A (p.Glu173=) rs560186994 0.00002
NM_033118.4(MYLK2):c.53-20G>A rs774881101 0.00002
NM_033118.4(MYLK2):c.669C>T (p.Asp223=) rs2123128080 0.00002
NM_033118.4(MYLK2):c.870G>A (p.Ala290=) rs1037625331 0.00002
NM_033118.4(MYLK2):c.891G>A (p.Gly297=) rs886056578 0.00002
NM_033118.4(MYLK2):c.933G>C (p.Leu311=) rs146745888 0.00002
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His) rs770590365 0.00001
NM_033118.4(MYLK2):c.1020C>T (p.Arg340=) rs1331155233 0.00001
NM_033118.4(MYLK2):c.1035G>C (p.Leu345=) rs150285652 0.00001
NM_033118.4(MYLK2):c.1076T>C (p.Met359Thr) rs752716920 0.00001
NM_033118.4(MYLK2):c.1080G>A (p.Glu360=) rs977115591 0.00001
NM_033118.4(MYLK2):c.1082+19G>A rs745498112 0.00001
NM_033118.4(MYLK2):c.1083-8G>A rs940139089 0.00001
NM_033118.4(MYLK2):c.1086C>T (p.Ile362=) rs188352991 0.00001
NM_033118.4(MYLK2):c.1087G>A (p.Glu363Lys) rs367922073 0.00001
NM_033118.4(MYLK2):c.1092C>T (p.Gly364=) rs745574239 0.00001
NM_033118.4(MYLK2):c.1093G>A (p.Gly365Arg) rs755753841 0.00001
NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp) rs779291493 0.00001
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr) rs727505336 0.00001
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=) rs759608229 0.00001
NM_033118.4(MYLK2):c.113C>A (p.Pro38His) rs748682977 0.00001
NM_033118.4(MYLK2):c.1147A>G (p.Thr383Ala) rs765387768 0.00001
NM_033118.4(MYLK2):c.1148C>T (p.Thr383Ile) rs1383312784 0.00001
NM_033118.4(MYLK2):c.1161C>G (p.Val387=) rs1251847749 0.00001
NM_033118.4(MYLK2):c.1168A>G (p.Ile390Val) rs762726572 0.00001
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) rs786205283 0.00001
NM_033118.4(MYLK2):c.118G>C (p.Asp40His) rs1442623234 0.00001
NM_033118.4(MYLK2):c.1194C>T (p.His398=) rs767402714 0.00001
NM_033118.4(MYLK2):c.1203G>A (p.Arg401=) rs755594011 0.00001
NM_033118.4(MYLK2):c.1227A>G (p.Pro409=) rs1297500199 0.00001
NM_033118.4(MYLK2):c.1233C>T (p.Asn411=) rs200963586 0.00001
NM_033118.4(MYLK2):c.1255G>A (p.Gly419Arg) rs781613441 0.00001
NM_033118.4(MYLK2):c.1291C>T (p.Arg431Trp) rs1370884458 0.00001
NM_033118.4(MYLK2):c.1296-13G>A rs759181721 0.00001
NM_033118.4(MYLK2):c.1309G>A (p.Glu437Lys) rs756380111 0.00001
NM_033118.4(MYLK2):c.1314G>A (p.Lys438=) rs990954469 0.00001
NM_033118.4(MYLK2):c.1381G>A (p.Asp461Asn) rs1222457605 0.00001
NM_033118.4(MYLK2):c.1410G>A (p.Val470=) rs1489644054 0.00001
NM_033118.4(MYLK2):c.1424+19C>T rs549728739 0.00001
NM_033118.4(MYLK2):c.1425-10C>T rs759832182 0.00001
NM_033118.4(MYLK2):c.1425-12C>T rs774113479 0.00001
NM_033118.4(MYLK2):c.1425-5T>C rs763149471 0.00001
NM_033118.4(MYLK2):c.1425-6C>T rs200234935 0.00001
NM_033118.4(MYLK2):c.143C>T (p.Pro48Leu) rs2062244940 0.00001
NM_033118.4(MYLK2):c.1446C>T (p.Phe482=) rs1261064039 0.00001
NM_033118.4(MYLK2):c.1499A>G (p.Tyr500Cys) rs974471969 0.00001
NM_033118.4(MYLK2):c.1514C>T (p.Thr505Ile) rs144359857 0.00001
NM_033118.4(MYLK2):c.1515C>T (p.Thr505=) rs930435016 0.00001
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile) rs183224373 0.00001
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln) rs767857271 0.00001
NM_033118.4(MYLK2):c.1577+10A>G rs777459815 0.00001
NM_033118.4(MYLK2):c.1577+17A>G rs2062308168 0.00001
NM_033118.4(MYLK2):c.1577+20C>G rs1329667381 0.00001
NM_033118.4(MYLK2):c.1577+9C>T rs373252847 0.00001
NM_033118.4(MYLK2):c.1578-16G>A rs765150509 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_033118.4(MYLK2):c.1591G>A (p.Ala531Thr) rs746480315 0.00001
NM_033118.4(MYLK2):c.1598A>G (p.Gln533Arg) rs756882768 0.00001
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu) rs1600414450 0.00001
NM_033118.4(MYLK2):c.1622A>G (p.Asn541Ser) rs769061608 0.00001
NM_033118.4(MYLK2):c.1631C>T (p.Ala544Val) rs868117451 0.00001
NM_033118.4(MYLK2):c.1645C>T (p.Arg549Cys) rs540151040 0.00001
NM_033118.4(MYLK2):c.1651A>G (p.Asn551Asp) rs776904119 0.00001
NM_033118.4(MYLK2):c.1654C>T (p.Arg552Ter) rs1262954625 0.00001
NM_033118.4(MYLK2):c.1659C>T (p.Arg553=) rs727504624 0.00001
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His) rs1405172030 0.00001
NM_033118.4(MYLK2):c.1710+8T>C rs1010376413 0.00001
NM_033118.4(MYLK2):c.1740C>T (p.Asn580=) rs1457156628 0.00001
NM_033118.4(MYLK2):c.1742G>A (p.Arg581His) rs1240286486 0.00001
NM_033118.4(MYLK2):c.1762T>C (p.Ser588Pro) rs1390693355 0.00001
NM_033118.4(MYLK2):c.1763C>T (p.Ser588Leu) rs973371846 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033118.4(MYLK2):c.1766G>A (p.Gly589Glu) rs201168172 0.00001
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser) rs150004017 0.00001
NM_033118.4(MYLK2):c.1773G>T (p.Leu591=) rs757802556 0.00001
NM_033118.4(MYLK2):c.1782G>A (p.Leu594=) rs1229893335 0.00001
NM_033118.4(MYLK2):c.187G>T (p.Asp63Tyr) rs779321042 0.00001
NM_033118.4(MYLK2):c.189T>C (p.Asp63=) rs1266323436 0.00001
NM_033118.4(MYLK2):c.204A>G (p.Gln68=) rs1240723658 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu) rs138517155 0.00001
NM_033118.4(MYLK2):c.249C>T (p.Gly83=) rs774383057 0.00001
NM_033118.4(MYLK2):c.250G>A (p.Gly84Arg) rs567882762 0.00001
NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg) rs1955023201 0.00001
NM_033118.4(MYLK2):c.259G>A (p.Ala87Thr) rs753089175 0.00001
NM_033118.4(MYLK2):c.267C>T (p.Gly89=) rs757350083 0.00001
NM_033118.4(MYLK2):c.268A>G (p.Ser90Gly) rs781322060 0.00001
NM_033118.4(MYLK2):c.287C>T (p.Ala96Val) rs772745416 0.00001
NM_033118.4(MYLK2):c.294C>T (p.Pro98=) rs373609417 0.00001
NM_033118.4(MYLK2):c.306G>A (p.Ala102=) rs764441706 0.00001
NM_033118.4(MYLK2):c.312T>C (p.Pro104=) rs202047576 0.00001
NM_033118.4(MYLK2):c.322G>A (p.Val108Ile) rs367707824 0.00001
NM_033118.4(MYLK2):c.32G>A (p.Gly11Glu) rs1316397890 0.00001
NM_033118.4(MYLK2):c.335A>G (p.Lys112Arg) rs2123126349 0.00001
NM_033118.4(MYLK2):c.337G>T (p.Ala113Ser) rs201107614 0.00001
NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys) rs727503303 0.00001
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu) rs727503304 0.00001
NM_033118.4(MYLK2):c.357C>A (p.Gly119=) rs199854237 0.00001
NM_033118.4(MYLK2):c.383T>A (p.Val128Glu) rs764494869 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.395C>T (p.Ala132Val) rs774669925 0.00001
NM_033118.4(MYLK2):c.398C>T (p.Ala133Val) rs761688232 0.00001
NM_033118.4(MYLK2):c.399A>G (p.Ala133=) rs1230814435 0.00001
NM_033118.4(MYLK2):c.403G>C (p.Gly135Arg) rs750838459 0.00001
NM_033118.4(MYLK2):c.409G>A (p.Ala137Thr) rs1278523169 0.00001
NM_033118.4(MYLK2):c.487C>T (p.Leu163=) rs1328631034 0.00001
NM_033118.4(MYLK2):c.490G>T (p.Ala164Ser) rs1402022243 0.00001
NM_033118.4(MYLK2):c.516A>C (p.Ser172=) rs1407512079 0.00001
NM_033118.4(MYLK2):c.52+11G>A rs2062241495 0.00001
NM_033118.4(MYLK2):c.52+13G>C rs777578125 0.00001
NM_033118.4(MYLK2):c.576G>C (p.Lys192Asn) rs6060968 0.00001
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr) rs1228303561 0.00001
NM_033118.4(MYLK2):c.591G>T (p.Lys197Asn) rs1450943906 0.00001
NM_033118.4(MYLK2):c.594C>T (p.Asn198=) rs771352528 0.00001
NM_033118.4(MYLK2):c.599T>C (p.Leu200Pro) rs746360476 0.00001
NM_033118.4(MYLK2):c.602C>A (p.Ala201Glu) rs769968444 0.00001
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp) rs775405264 0.00001
NM_033118.4(MYLK2):c.633C>T (p.Thr211=) rs768001289 0.00001
NM_033118.4(MYLK2):c.658A>G (p.Met220Val) rs565588866 0.00001
NM_033118.4(MYLK2):c.662A>G (p.Gln221Arg) rs750419427 0.00001
NM_033118.4(MYLK2):c.674C>T (p.Ser225Leu) rs371836552 0.00001
NM_033118.4(MYLK2):c.675G>A (p.Ser225=) rs753309061 0.00001
NM_033118.4(MYLK2):c.68G>A (p.Gly23Asp) rs776262276 0.00001
NM_033118.4(MYLK2):c.704C>T (p.Ser235Leu) rs770237487 0.00001
NM_033118.4(MYLK2):c.711A>G (p.Lys237=) rs776019860 0.00001
NM_033118.4(MYLK2):c.715G>A (p.Glu239Lys) rs768716432 0.00001
NM_033118.4(MYLK2):c.716A>C (p.Glu239Ala) rs2062252983 0.00001
NM_033118.4(MYLK2):c.732C>G (p.Leu244=) rs2123128189 0.00001
NM_033118.4(MYLK2):c.772+18G>C rs773045483 0.00001
NM_033118.4(MYLK2):c.78T>A (p.Gly26=) rs1600406921 0.00001
NM_033118.4(MYLK2):c.792G>A (p.Pro264=) rs752288788 0.00001
NM_033118.4(MYLK2):c.813G>A (p.Met271Ile) rs376297935 0.00001
NM_033118.4(MYLK2):c.829G>A (p.Gly277Arg) rs372981969 0.00001
NM_033118.4(MYLK2):c.866A>C (p.Glu289Ala) rs2062262635 0.00001
NM_033118.4(MYLK2):c.869C>T (p.Ala290Val) rs1249774186 0.00001
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg) rs1026490690 0.00001
NM_033118.4(MYLK2):c.879-13C>T rs367859025 0.00001
NM_033118.4(MYLK2):c.879-19C>A rs769913699 0.00001
NM_033118.4(MYLK2):c.885G>C (p.Lys295Asn) rs749224761 0.00001
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys) rs767211264 0.00001
NM_033118.4(MYLK2):c.927C>T (p.Leu309=) rs764465707 0.00001
NM_033118.4(MYLK2):c.94G>T (p.Ala32Ser) rs757983286 0.00001
NM_033118.4(MYLK2):c.95C>T (p.Ala32Val) rs2062244368 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033118.4(MYLK2):c.972+17G>A rs1429941974 0.00001
NM_033118.4(MYLK2):c.972+19T>C rs747697105 0.00001
NM_033118.4(MYLK2):c.99G>T (p.Gly33=) rs756949426 0.00001
NC_000020.10:g.(?_30407384)_(30421600_?)dup
NM_033118.4(MYLK2):c.1000A>G (p.Met334Val) rs2062280955
NM_033118.4(MYLK2):c.1006C>G (p.Gln336Glu) rs2123134566
NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser) rs763678910
NM_033118.4(MYLK2):c.1024C>G (p.Leu342Val)
NM_033118.4(MYLK2):c.1056G>A (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.1056G>T (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.105C>A (p.Asp35Glu) rs551492045
NM_033118.4(MYLK2):c.1083-12C>T
NM_033118.4(MYLK2):c.1104C>A (p.Phe368Leu) rs6089088
NM_033118.4(MYLK2):c.111C>A (p.Gly37=) rs1389317242
NM_033118.4(MYLK2):c.111C>G (p.Gly37=)
NM_033118.4(MYLK2):c.1137C>A (p.Thr379=) rs759608229
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys) rs1174826293
NM_033118.4(MYLK2):c.1170C>T (p.Ile390=) rs2515457220
NM_033118.4(MYLK2):c.1177G>A (p.Gly393Arg)
NM_033118.4(MYLK2):c.1185C>T (p.Leu395=) rs1285227408
NM_033118.4(MYLK2):c.1192C>T (p.His398Tyr)
NM_033118.4(MYLK2):c.120C>A (p.Asp40Glu)
NM_033118.4(MYLK2):c.120C>T (p.Asp40=)
NM_033118.4(MYLK2):c.1225-13C>T rs765889473
NM_033118.4(MYLK2):c.1245C>T (p.Val415=) rs1042706370
NM_033118.4(MYLK2):c.1258C>T (p.His420Tyr) rs1197816369
NM_033118.4(MYLK2):c.126G>A (p.Lys42=) rs2123125859
NM_033118.4(MYLK2):c.1270A>T (p.Ile424Phe) rs2515460071
NM_033118.4(MYLK2):c.1282G>T (p.Gly428Cys) rs2123139554
NM_033118.4(MYLK2):c.1288G>T (p.Ala430Ser)
NM_033118.4(MYLK2):c.1290A>C (p.Ala430=) rs878855174
NM_033118.4(MYLK2):c.1295+14G>A rs760629458
NM_033118.4(MYLK2):c.1295+9TGGG[2] rs2123139600
NM_033118.4(MYLK2):c.1296-11C>G
NM_033118.4(MYLK2):c.1296-13G>T rs759181721
NM_033118.4(MYLK2):c.1296-9C>A
NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser) rs2035654766
NM_033118.4(MYLK2):c.1327T>C (p.Phe443Leu)
NM_033118.4(MYLK2):c.1334C>T (p.Thr445Ile) rs1286300289
NM_033118.4(MYLK2):c.1354G>C (p.Glu452Gln) rs2062304072
NM_033118.4(MYLK2):c.1360G>T (p.Val454Leu) rs1555790622
NM_033118.4(MYLK2):c.1361T>C (p.Val454Ala)
NM_033118.4(MYLK2):c.1367A>G (p.Tyr456Cys) rs2515460388
NM_033118.4(MYLK2):c.1375A>C (p.Ile459Leu)
NM_033118.4(MYLK2):c.1381G>C (p.Asp461His)
NM_033118.4(MYLK2):c.1395G>A (p.Met465Ile) rs2515460419
NM_033118.4(MYLK2):c.1405G>C (p.Gly469Arg) rs1568634635
NM_033118.4(MYLK2):c.1407G>A (p.Gly469=) rs934365518
NM_033118.4(MYLK2):c.1417T>C (p.Tyr473His) rs2515460441
NM_033118.4(MYLK2):c.1424+6C>G rs2515460451
NM_033118.4(MYLK2):c.1424+8C>T rs2062304481
NM_033118.4(MYLK2):c.1425-10C>G rs759832182
NM_033118.4(MYLK2):c.1425-11C>A rs369886665
NM_033118.4(MYLK2):c.1425-11C>G
NM_033118.4(MYLK2):c.1425-6C>A rs200234935
NM_033118.4(MYLK2):c.1432G>A (p.Gly478Ser) rs1031638117
NM_033118.4(MYLK2):c.1438T>C (p.Ser480Pro) rs2515461016
NM_033118.4(MYLK2):c.1440C>T (p.Ser480=) rs867518927
NM_033118.4(MYLK2):c.1442C>G (p.Pro481Arg)
NM_033118.4(MYLK2):c.145A>C (p.Thr49Pro) rs2515451027
NM_033118.4(MYLK2):c.1465G>A (p.Glu489Lys) rs2123140758
NM_033118.4(MYLK2):c.1495T>A (p.Trp499Arg) rs1279963761
NM_033118.4(MYLK2):c.1495T>C (p.Trp499Arg) rs1279963761
NM_033118.4(MYLK2):c.1496G>A (p.Trp499Ter) rs2062307658
NM_033118.4(MYLK2):c.149T>G (p.Leu50Arg) rs769568693
NM_033118.4(MYLK2):c.14dup (p.Asn5fs) rs1251172824
NM_033118.4(MYLK2):c.1506T>A (p.Asp502Glu) rs2123140854
NM_033118.4(MYLK2):c.1514C>G (p.Thr505Ser) rs144359857
NM_033118.4(MYLK2):c.1515C>G (p.Thr505=) rs930435016
NM_033118.4(MYLK2):c.1518T>C (p.Phe506=) rs554990560
NM_033118.4(MYLK2):c.1537G>T (p.Ala513Ser)
NM_033118.4(MYLK2):c.1538C>A (p.Ala513Asp) rs2515461145
NM_033118.4(MYLK2):c.1543G>T (p.Asp515Tyr) rs2062307963
NM_033118.4(MYLK2):c.1546T>A (p.Phe516Ile) rs2062307970
NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile) rs747657397
NM_033118.4(MYLK2):c.156A>G (p.Lys52=) rs2123125914
NM_033118.4(MYLK2):c.1578-11C>T rs370838605
NM_033118.4(MYLK2):c.1578-15C>A rs2123141194
NM_033118.4(MYLK2):c.1609C>T (p.His537Tyr)
NM_033118.4(MYLK2):c.161C>T (p.Ala54Val) rs762972654
NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs) rs1335931963
NM_033118.4(MYLK2):c.162_163insT (p.Lys55Ter) rs2515451065
NM_033118.4(MYLK2):c.1647C>G (p.Arg549=)
NM_033118.4(MYLK2):c.1659C>A (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.1687T>C (p.Tyr563His)
NM_033118.4(MYLK2):c.1690C>T (p.Leu564Phe) rs2515461502
NM_033118.4(MYLK2):c.1697A>G (p.Lys566Arg) rs1342901282
NM_033118.4(MYLK2):c.1699A>G (p.Arg567Gly) rs1600414546
NM_033118.4(MYLK2):c.1710+14C>T rs775285427
NM_033118.4(MYLK2):c.1710+14_1710+15delinsGG rs2123141528
NM_033118.4(MYLK2):c.1710+15A>T rs6060980
NM_033118.4(MYLK2):c.1710+18G>A rs751494087
NM_033118.4(MYLK2):c.1710+20G>A
NM_033118.4(MYLK2):c.1710+20G>C rs761288375
NM_033118.4(MYLK2):c.1710+20G>T rs761288375
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1723G>A (p.Ala575Thr)
NM_033118.4(MYLK2):c.1726G>A (p.Val576Ile) rs1288571285
NM_033118.4(MYLK2):c.172G>A (p.Ala58Thr) rs2123125941
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del) rs774851606
NM_033118.4(MYLK2):c.1765G>A (p.Gly589Arg) rs1295031304
NM_033118.4(MYLK2):c.1771_*12del (p.Leu591_Ter597del) rs761732061
NM_033118.4(MYLK2):c.1783G>C (p.Gly595Arg) rs2062319327
NM_033118.4(MYLK2):c.1784G>A (p.Gly595Glu) rs2062319347
NM_033118.4(MYLK2):c.1790G>A (p.Ter597=) rs780313264
NM_033118.4(MYLK2):c.17G>A (p.Gly6Glu) rs2062241270
NM_033118.4(MYLK2):c.187G>A (p.Asp63Asn) rs779321042
NM_033118.4(MYLK2):c.187del (p.Asp63fs)
NM_033118.4(MYLK2):c.205C>A (p.Pro69Thr)
NM_033118.4(MYLK2):c.205C>T (p.Pro69Ser) rs886056576
NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr) rs2515451136
NM_033118.4(MYLK2):c.209C>T (p.Ser70Leu)
NM_033118.4(MYLK2):c.21A>C (p.Ala7=)
NM_033118.4(MYLK2):c.224G>A (p.Gly75Asp) rs1600407058
NM_033118.4(MYLK2):c.230A>G (p.Lys77Arg)
NM_033118.4(MYLK2):c.240T>G (p.Gly80=) rs768745988
NM_033118.4(MYLK2):c.244_245del (p.Arg82fs) rs751701199
NM_033118.4(MYLK2):c.249C>A (p.Gly83=) rs774383057
NM_033118.4(MYLK2):c.255G>A (p.Gly85=) rs1267386817
NM_033118.4(MYLK2):c.255G>T (p.Gly85=) rs1267386817
NM_033118.4(MYLK2):c.255del (p.Ala87fs) rs1455902610
NM_033118.4(MYLK2):c.303T>C (p.Thr101=) rs1555789900
NM_033118.4(MYLK2):c.317C>T (p.Thr106Ile)
NM_033118.4(MYLK2):c.336G>T (p.Lys112Asn)
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.347G>A (p.Gly116Glu) rs1307094136
NM_033118.4(MYLK2):c.348A>G (p.Gly116=) rs754876521
NM_033118.4(MYLK2):c.365A>T (p.Asp122Val) rs2515451467
NM_033118.4(MYLK2):c.371G>A (p.Gly124Glu) rs772970924
NM_033118.4(MYLK2):c.381G>C (p.Arg127Ser) rs141524173
NM_033118.4(MYLK2):c.391A>G (p.Lys131Glu) rs1555789906
NM_033118.4(MYLK2):c.393_407dup (p.Glu134_Ala138dup) rs2123126489
NM_033118.4(MYLK2):c.402G>T (p.Glu134Asp) rs768092962
NM_033118.4(MYLK2):c.403G>A (p.Gly135Ser) rs750838459
NM_033118.4(MYLK2):c.426C>G (p.Gly142=) rs1014407969
NM_033118.4(MYLK2):c.430C>T (p.Pro144Ser) rs34396614
NM_033118.4(MYLK2):c.433G>C (p.Ala145Pro) rs2515451578
NM_033118.4(MYLK2):c.434C>T (p.Ala145Val)
NM_033118.4(MYLK2):c.444T>C (p.His148=) rs780660993
NM_033118.4(MYLK2):c.453C>G (p.Ser151Arg) rs1600407268
NM_033118.4(MYLK2):c.470C>T (p.Ser157Phe) rs2062247649
NM_033118.4(MYLK2):c.473+11_473+12delinsAG rs2515451638
NM_033118.4(MYLK2):c.473+17G>C rs772259200
NM_033118.4(MYLK2):c.473+18G>A rs2123126696
NM_033118.4(MYLK2):c.473+1G>A rs2062247669
NM_033118.4(MYLK2):c.474-10C>T rs772534999
NM_033118.4(MYLK2):c.474-12C>T rs748888630
NM_033118.4(MYLK2):c.474-19_474-18del rs2515452215
NM_033118.4(MYLK2):c.50C>T (p.Thr17Ile) rs192056427
NM_033118.4(MYLK2):c.514_603del (p.Ser172_Ala201del) rs2123127709
NM_033118.4(MYLK2):c.52+14G>T rs2123125141
NM_033118.4(MYLK2):c.52+19A>G rs1471938352
NM_033118.4(MYLK2):c.52+19A>T rs1471938352
NM_033118.4(MYLK2):c.52+8G>A rs2515450290
NM_033118.4(MYLK2):c.52+9C>A rs2062241484
NM_033118.4(MYLK2):c.520C>T (p.Leu174Phe) rs2123127754
NM_033118.4(MYLK2):c.523A>G (p.Thr175Ala) rs2123127764
NM_033118.4(MYLK2):c.53-20G>T rs774881101
NM_033118.4(MYLK2):c.550A>G (p.Ser184Gly) rs2515452350
NM_033118.4(MYLK2):c.557C>G (p.Thr186Arg)
NM_033118.4(MYLK2):c.56A>G (p.Lys19Arg) rs1060500984
NM_033118.4(MYLK2):c.572C>A (p.Ala191Asp) rs778578033
NM_033118.4(MYLK2):c.573C>T (p.Ala191=) rs2515452386
NM_033118.4(MYLK2):c.611A>G (p.Gln204Arg) rs2062252352
NM_033118.4(MYLK2):c.615G>A (p.Lys205=) rs1568627884
NM_033118.4(MYLK2):c.61C>T (p.Pro21Ser)
NM_033118.4(MYLK2):c.620T>G (p.Val207Gly) rs2515452458
NM_033118.4(MYLK2):c.622G>A (p.Gly208Arg)
NM_033118.4(MYLK2):c.627G>A (p.Glu209=) rs587781091
NM_033118.4(MYLK2):c.632C>A (p.Thr211Asn) rs764248903
NM_033118.4(MYLK2):c.637GGCCAGGCT[1] (p.213GQA[1]) rs2062252502
NM_033118.4(MYLK2):c.637GGCCAGGCT[3] (p.213GQA[3]) rs2062252502
NM_033118.4(MYLK2):c.648C>A (p.Gly216=) rs761603914
NM_033118.4(MYLK2):c.666G>A (p.Gly222=) rs2515452501
NM_033118.4(MYLK2):c.671C>T (p.Thr224Ile) rs756013032
NM_033118.4(MYLK2):c.683T>C (p.Ile228Thr) rs1060500985
NM_033118.4(MYLK2):c.706G>C (p.Glu236Gln) rs2062252912
NM_033118.4(MYLK2):c.722G>C (p.Gly241Ala) rs1428034327
NM_033118.4(MYLK2):c.74C>T (p.Thr25Ile) rs1183127391
NM_033118.4(MYLK2):c.75A>G (p.Thr25=) rs1310164094
NM_033118.4(MYLK2):c.76G>T (p.Gly26Cys)
NM_033118.4(MYLK2):c.772+14A>T rs2062253179
NM_033118.4(MYLK2):c.773-15T>C rs2515454129
NM_033118.4(MYLK2):c.773-19G>T rs914355976
NM_033118.4(MYLK2):c.773-3C>T rs947189841
NM_033118.4(MYLK2):c.773-7C>T rs760391320
NM_033118.4(MYLK2):c.773A>T (p.Asp258Val) rs2123130394
NM_033118.4(MYLK2):c.792G>C (p.Pro264=) rs752288788
NM_033118.4(MYLK2):c.803C>G (p.Pro268Arg)
NM_033118.4(MYLK2):c.803C>T (p.Pro268Leu) rs372639122
NM_033118.4(MYLK2):c.809G>A (p.Arg270His) rs146485342
NM_033118.4(MYLK2):c.809G>T (p.Arg270Leu) rs146485342
NM_033118.4(MYLK2):c.816G>A (p.Val272=) rs1405030492
NM_033118.4(MYLK2):c.827C>G (p.Thr276Ser) rs2515454248
NM_033118.4(MYLK2):c.828C>G (p.Thr276=) rs370429139
NM_033118.4(MYLK2):c.831G>A (p.Gly277=) rs1241162046
NM_033118.4(MYLK2):c.852T>C (p.Ser284=) rs2123130573
NM_033118.4(MYLK2):c.852_870dup (p.Leu291fs) rs2123130570
NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr) rs752618730
NM_033118.4(MYLK2):c.862A>G (p.Lys288Glu) rs2515454311
NM_033118.4(MYLK2):c.872T>C (p.Leu291Pro) rs2062262745
NM_033118.4(MYLK2):c.878+17dup rs2123130655
NM_033118.4(MYLK2):c.879-16C>G
NM_033118.4(MYLK2):c.957G>A (p.Gln319=) rs2123131710
NM_033118.4(MYLK2):c.963C>T (p.Pro321=) rs756032622
NM_033118.4(MYLK2):c.968_972del (p.Asp323fs)
NM_033118.4(MYLK2):c.96_97delinsCC (p.Gly33Arg) rs1568626448
NM_033118.4(MYLK2):c.972+14G>C rs193922713
NM_033118.4(MYLK2):c.972+18del rs1223978472
NM_033118.4(MYLK2):c.972+2T>C
NM_033118.4(MYLK2):c.973-13C>T rs750724227
NM_033118.4(MYLK2):c.973-4C>T rs2515456840
NM_033118.4(MYLK2):c.976A>G (p.Met326Val) rs2062280681
NM_033118.4(MYLK2):c.978G>A (p.Met326Ile) rs2515456855
NM_033118.4(MYLK2):c.97G>T (p.Gly33Trp) rs751317546
NM_033118.4(MYLK2):c.981G>C (p.Val327=) rs989421183
NM_033118.4(MYLK2):c.989A>G (p.Glu330Gly) rs2515456876

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