ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143 0.00053
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767 0.00048
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) rs202177283 0.00030
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu) rs137982786 0.00030
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_053025.4(MYLK):c.69A>T (p.Arg23Ser) rs146297620 0.00024
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414 0.00018
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys) rs147332242 0.00018
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) rs200949109 0.00014
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325 0.00009
NM_053025.4(MYLK):c.2462+5G>A rs374003770 0.00008
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) rs369576521 0.00006
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala) rs374420141 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.2326G>A (p.Val776Met) rs372707781 0.00006
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715 0.00006
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681 0.00006
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083 0.00006
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) rs201265306 0.00006
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) rs559933360 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) rs370158852 0.00006
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) rs189505310 0.00005
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) rs199736263 0.00005
NM_053025.4(MYLK):c.983C>T (p.Ser328Leu) rs200143447 0.00005
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690 0.00004
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) rs377193216 0.00004
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) rs147311651 0.00004
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) rs531232445 0.00004
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008 0.00004
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu) rs779148876 0.00004
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln) rs371418382 0.00004
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) rs749847711 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu) rs762030142 0.00004
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu) rs530737723 0.00004
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys) rs141481369 0.00004
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) rs730880164 0.00004
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) rs774223564 0.00004
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) rs375433770 0.00004
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) rs752526557 0.00004
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu) rs760242263 0.00003
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) rs202225055 0.00003
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237 0.00003
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849 0.00003
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) rs142765858 0.00003
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646 0.00003
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504 0.00003
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys) rs989370486 0.00003
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763 0.00003
NM_053025.4(MYLK):c.2732C>T (p.Ser911Leu) rs773956836 0.00003
NM_053025.4(MYLK):c.2918C>T (p.Pro973Leu) rs760450984 0.00003
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) rs773540567 0.00003
NM_053025.4(MYLK):c.343C>T (p.Arg115Cys) rs146921745 0.00003
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) rs201251944 0.00003
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) rs370872760 0.00003
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) rs758161864 0.00003
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545 0.00003
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr) rs766722671 0.00003
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) rs755510742 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698 0.00003
NM_053025.4(MYLK):c.661C>T (p.His221Tyr) rs760622096 0.00003
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) rs1057524740 0.00002
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys) rs769548990 0.00002
NM_053025.4(MYLK):c.2254G>A (p.Val752Met) rs144740858 0.00002
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) rs587782966 0.00002
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) rs749162097 0.00002
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517 0.00002
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala) rs200041144 0.00002
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) rs777200220 0.00002
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile) rs752986671 0.00002
NM_053025.4(MYLK):c.3403G>A (p.Gly1135Arg) rs777923531 0.00002
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) rs759317891 0.00002
NM_053025.4(MYLK):c.3592G>T (p.Ala1198Ser) rs911251036 0.00002
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063 0.00002
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) rs1026157995 0.00002
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) rs762795374 0.00002
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) rs755248772 0.00002
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) rs2059054614 0.00002
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile) rs776503378 0.00002
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu) rs747368032 0.00002
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836 0.00002
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926 0.00002
NM_053025.4(MYLK):c.5545A>G (p.Ile1849Val) rs1177273925 0.00002
NM_053025.4(MYLK):c.5557C>T (p.Arg1853Cys) rs138364346 0.00002
NM_053025.4(MYLK):c.648G>T (p.Gln216His) rs753350784 0.00002
NM_053025.4(MYLK):c.908G>T (p.Gly303Val) rs750416997 0.00002
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) rs1431655501 0.00002
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527 0.00001
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) rs779309547 0.00001
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) rs766381045 0.00001
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.1432C>T (p.Arg478Trp) rs200059795 0.00001
NM_053025.4(MYLK):c.146C>T (p.Thr49Ile) rs1337572355 0.00001
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) rs149802186 0.00001
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) rs886039189 0.00001
NM_053025.4(MYLK):c.1525G>A (p.Val509Met) rs532203771 0.00001
NM_053025.4(MYLK):c.1528A>T (p.Met510Leu) rs368575789 0.00001
NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu) rs1262457848 0.00001
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) rs143403855 0.00001
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys) rs1272395846 0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560 0.00001
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly) rs748628438 0.00001
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112 0.00001
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) rs779602599 0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly) rs763243524 0.00001
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser) rs554791878 0.00001
NM_053025.4(MYLK):c.2396G>A (p.Arg799Gln) rs1435664878 0.00001
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820 0.00001
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) rs372019566 0.00001
NM_053025.4(MYLK):c.2462+3G>A rs893899992 0.00001
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln) rs745500351 0.00001
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) rs1285946380 0.00001
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly) rs544456463 0.00001
NM_053025.4(MYLK):c.2885C>A (p.Thr962Asn) rs201266960 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu) rs879643674 0.00001
NM_053025.4(MYLK):c.2944C>T (p.Arg982Cys) rs375731554 0.00001
NM_053025.4(MYLK):c.2978C>T (p.Ala993Val) rs753339459 0.00001
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) rs1060502535 0.00001
NM_053025.4(MYLK):c.2996G>T (p.Ser999Ile) rs764348039 0.00001
NM_053025.4(MYLK):c.301del (p.Arg101fs) rs1280842278 0.00001
NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val) rs1382043515 0.00001
NM_053025.4(MYLK):c.3022G>A (p.Val1008Met) rs747305438 0.00001
NM_053025.4(MYLK):c.3052C>T (p.Gln1018Ter) rs377568543 0.00001
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) rs748997552 0.00001
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys) rs2063223394 0.00001
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472 0.00001
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys) rs867887039 0.00001
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val) rs1222534732 0.00001
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe) rs372251565 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740 0.00001
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) rs747543921 0.00001
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) rs748559781 0.00001
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His) rs745547260 0.00001
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys) rs761390691 0.00001
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln) rs1397757032 0.00001
NM_053025.4(MYLK):c.4520G>A (p.Arg1507Gln) rs574296889 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu) rs775096552 0.00001
NM_053025.4(MYLK):c.4790C>T (p.Thr1597Met) rs763260112 0.00001
NM_053025.4(MYLK):c.47C>T (p.Ser16Phe) rs1232197656 0.00001
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) rs758272545 0.00001
NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro) rs1226517649 0.00001
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr) rs759291796 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) rs746213310 0.00001
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys) rs369511530 0.00001
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) rs532767014 0.00001
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys) rs557873884 0.00001
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys) rs148174313 0.00001
NM_053025.4(MYLK):c.706G>A (p.Val236Met) rs923797303 0.00001
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013 0.00001
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) rs746464484 0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041 0.00001
NM_053025.4(MYLK):c.976A>G (p.Lys326Glu) rs140876214 0.00001
NM_053025.4(MYLK):c.97C>T (p.Pro33Ser) rs770959360 0.00001
NM_053025.4(MYLK):c.1016A>G (p.Gln339Arg) rs2108792544
NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser)
NM_053025.4(MYLK):c.1072G>A (p.Ala358Thr)
NM_053025.4(MYLK):c.1085G>A (p.Gly362Glu)
NM_053025.4(MYLK):c.1120C>T (p.Pro374Ser) rs1553822427
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) rs374894375
NM_053025.4(MYLK):c.1141A>G (p.Thr381Ala)
NM_053025.4(MYLK):c.1171A>G (p.Ser391Gly)
NM_053025.4(MYLK):c.1178A>G (p.Asp393Gly)
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.1211C>T (p.Pro404Leu)
NM_053025.4(MYLK):c.1223A>G (p.Gln408Arg)
NM_053025.4(MYLK):c.1229A>G (p.Asp410Gly)
NM_053025.4(MYLK):c.1235C>T (p.Ala412Val)
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr) rs35156360
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1349A>G (p.Glu450Gly)
NM_053025.4(MYLK):c.1382T>C (p.Ile461Thr)
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp)
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
NM_053025.4(MYLK):c.1441G>T (p.Asp481Tyr)
NM_053025.4(MYLK):c.145A>G (p.Thr49Ala)
NM_053025.4(MYLK):c.1462A>C (p.Thr488Pro)
NM_053025.4(MYLK):c.1480G>T (p.Gly494Cys)
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) rs1052992526
NM_053025.4(MYLK):c.1531G>A (p.Glu511Lys)
NM_053025.4(MYLK):c.1538C>T (p.Ala513Val)
NM_053025.4(MYLK):c.1586A>G (p.Gln529Arg)
NM_053025.4(MYLK):c.1607C>G (p.Ser536Cys)
NM_053025.4(MYLK):c.1625T>C (p.Val542Ala)
NM_053025.4(MYLK):c.1631G>C (p.Arg544Pro)
NM_053025.4(MYLK):c.1641G>C (p.Trp547Cys)
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg)
NM_053025.4(MYLK):c.1670C>T (p.Ala557Val)
NM_053025.4(MYLK):c.1673G>C (p.Arg558Pro)
NM_053025.4(MYLK):c.1690G>C (p.Gly564Arg)
NM_053025.4(MYLK):c.169C>G (p.Arg57Gly)
NM_053025.4(MYLK):c.170G>A (p.Arg57Gln)
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) rs2062115226
NM_053025.4(MYLK):c.1758G>C (p.Glu586Asp)
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu) rs1060502532
NM_053025.4(MYLK):c.1802A>C (p.His601Pro) rs45477891
NM_053025.4(MYLK):c.1843G>A (p.Val615Met)
NM_053025.4(MYLK):c.184C>G (p.Pro62Ala)
NM_053025.4(MYLK):c.1875C>G (p.Phe625Leu)
NM_053025.4(MYLK):c.1885C>T (p.Leu629Phe)
NM_053025.4(MYLK):c.1948C>T (p.Pro650Ser)
NM_053025.4(MYLK):c.1954C>T (p.Pro652Ser)
NM_053025.4(MYLK):c.1955C>T (p.Pro652Leu)
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu) rs2061566265
NM_053025.4(MYLK):c.2021G>T (p.Arg674Ile)
NM_053025.4(MYLK):c.2053G>A (p.Val685Met)
NM_053025.4(MYLK):c.2053G>T (p.Val685Leu)
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg) rs144923036
NM_053025.4(MYLK):c.2080A>C (p.Thr694Pro)
NM_053025.4(MYLK):c.2081C>A (p.Thr694Asn)
NM_053025.4(MYLK):c.209G>A (p.Gly70Glu)
NM_053025.4(MYLK):c.2108A>T (p.Glu703Val)
NM_053025.4(MYLK):c.2110G>A (p.Val704Ile)
NM_053025.4(MYLK):c.2125G>C (p.Val709Leu)
NM_053025.4(MYLK):c.2140+6G>A rs374346618
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2231T>C (p.Ile744Thr)
NM_053025.4(MYLK):c.2262G>C (p.Trp754Cys)
NM_053025.4(MYLK):c.230G>A (p.Gly77Asp)
NM_053025.4(MYLK):c.2318A>G (p.Asn773Ser)
NM_053025.4(MYLK):c.232C>G (p.Arg78Gly)
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys)
NM_053025.4(MYLK):c.2350G>T (p.Val784Leu)
NM_053025.4(MYLK):c.2395C>T (p.Arg799Trp)
NM_053025.4(MYLK):c.23C>T (p.Ala8Val)
NM_053025.4(MYLK):c.2417A>G (p.Gln806Arg)
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) rs1553805024
NM_053025.4(MYLK):c.2453C>T (p.Ala818Val)
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) rs748575040
NM_053025.4(MYLK):c.2521G>A (p.Gly841Ser)
NM_053025.4(MYLK):c.2534G>C (p.Arg845Pro)
NM_053025.4(MYLK):c.2551C>T (p.Pro851Ser)
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.4(MYLK):c.2597G>A (p.Gly866Asp)
NM_053025.4(MYLK):c.2608C>G (p.Arg870Gly) rs865903260
NM_053025.4(MYLK):c.2609G>A (p.Arg870Gln)
NM_053025.4(MYLK):c.2654A>C (p.Glu885Ala)
NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg)
NM_053025.4(MYLK):c.2690T>C (p.Phe897Ser)
NM_053025.4(MYLK):c.2697C>A (p.Asp899Glu)
NM_053025.4(MYLK):c.269G>A (p.Ser90Asn)
NM_053025.4(MYLK):c.2725A>T (p.Thr909Ser)
NM_053025.4(MYLK):c.272T>C (p.Leu91Pro)
NM_053025.4(MYLK):c.2731T>C (p.Ser911Pro)
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.2740G>C (p.Asp914His) rs561148360
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr) rs561148360
NM_053025.4(MYLK):c.2744T>A (p.Leu915Gln)
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met) rs1553803967
NM_053025.4(MYLK):c.2792G>T (p.Arg931Leu)
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2849A>C (p.Gln950Pro) rs200536833
NM_053025.4(MYLK):c.2849A>G (p.Gln950Arg)
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn) rs971096950
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile)
NM_053025.4(MYLK):c.290A>C (p.His97Pro) rs756800370
NM_053025.4(MYLK):c.2911G>C (p.Val971Leu)
NM_053025.4(MYLK):c.2975C>G (p.Pro992Arg)
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile)
NM_053025.4(MYLK):c.305G>T (p.Gly102Val) rs758300915
NM_053025.4(MYLK):c.3083A>G (p.Asn1028Ser)
NM_053025.4(MYLK):c.3086C>A (p.Ala1029Asp)
NM_053025.4(MYLK):c.3091C>T (p.Pro1031Ser)
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) rs758966808
NM_053025.4(MYLK):c.3096_3131dup (p.1032_1043AETLKPMGNAKP[3]) rs758966808
NM_053025.4(MYLK):c.3130G>C (p.Ala1044Pro)
NM_053025.4(MYLK):c.3134A>G (p.Glu1045Gly)
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr)
NM_053025.4(MYLK):c.3160A>C (p.Lys1054Gln)
NM_053025.4(MYLK):c.3221A>T (p.Asp1074Val)
NM_053025.4(MYLK):c.3277_3278del (p.Ser1093fs) rs1553803217
NM_053025.4(MYLK):c.3285del (p.Thr1096fs)
NM_053025.4(MYLK):c.3289G>A (p.Ala1097Thr)
NM_053025.4(MYLK):c.329A>G (p.Asn110Ser)
NM_053025.4(MYLK):c.3319G>A (p.Val1107Ile)
NM_053025.4(MYLK):c.3324T>A (p.His1108Gln)
NM_053025.4(MYLK):c.3339G>C (p.Lys1113Asn)
NM_053025.4(MYLK):c.3343C>G (p.Leu1115Val)
NM_053025.4(MYLK):c.3395C>A (p.Thr1132Lys)
NM_053025.4(MYLK):c.33C>A (p.His11Gln)
NM_053025.4(MYLK):c.344G>T (p.Arg115Leu)
NM_053025.4(MYLK):c.3458G>A (p.Cys1153Tyr)
NM_053025.4(MYLK):c.3463G>T (p.Val1155Phe)
NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile)
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) rs758839208
NM_053025.4(MYLK):c.3559G>A (p.Val1187Met)
NM_053025.4(MYLK):c.355G>A (p.Val119Met)
NM_053025.4(MYLK):c.3565+4G>A
NM_053025.4(MYLK):c.3569C>T (p.Ala1190Val)
NM_053025.4(MYLK):c.356T>C (p.Val119Ala)
NM_053025.4(MYLK):c.3578G>T (p.Ser1193Ile)
NM_053025.4(MYLK):c.3584A>G (p.Asn1195Ser)
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys) rs2108456120
NM_053025.4(MYLK):c.3626C>T (p.Ser1209Phe)
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.3653-2A>G
NM_053025.4(MYLK):c.3704-3C>G
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr)
NM_053025.4(MYLK):c.3755G>A (p.Gly1252Glu) rs886039046
NM_053025.4(MYLK):c.3805T>C (p.Cys1269Arg) rs750286831
NM_053025.4(MYLK):c.3831+5G>A rs1198605932
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser) rs1576474081
NM_053025.4(MYLK):c.3868G>C (p.Glu1290Gln)
NM_053025.4(MYLK):c.3877A>G (p.Ser1293Gly)
NM_053025.4(MYLK):c.3893T>C (p.Leu1298Pro)
NM_053025.4(MYLK):c.389A>C (p.Gln130Pro)
NM_053025.4(MYLK):c.3902G>A (p.Arg1301His) rs770980369
NM_053025.4(MYLK):c.3902G>T (p.Arg1301Leu)
NM_053025.4(MYLK):c.390G>C (p.Gln130His)
NM_053025.4(MYLK):c.3917G>C (p.Gly1306Ala)
NM_053025.4(MYLK):c.3927_3929del (p.Leu1311del)
NM_053025.4(MYLK):c.3966G>C (p.Gln1322His) rs2108323798
NM_053025.4(MYLK):c.3976A>G (p.Thr1326Ala)
NM_053025.4(MYLK):c.3995A>T (p.Asp1332Val)
NM_053025.4(MYLK):c.4013C>G (p.Pro1338Arg)
NM_053025.4(MYLK):c.4024G>A (p.Asp1342Asn)
NM_053025.4(MYLK):c.4066T>C (p.Ser1356Pro)
NM_053025.4(MYLK):c.4070A>G (p.Tyr1357Cys)
NM_053025.4(MYLK):c.4074T>A (p.Asp1358Glu)
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.4(MYLK):c.4109T>C (p.Ile1370Thr)
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.4276G>C (p.Glu1426Gln)
NM_053025.4(MYLK):c.4291C>A (p.Pro1431Thr)
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile) rs2059118422
NM_053025.4(MYLK):c.4361T>A (p.Ile1454Asn)
NM_053025.4(MYLK):c.4367C>A (p.Thr1456Asn) rs1553781315
NM_053025.4(MYLK):c.4369G>A (p.Glu1457Lys) rs1018778128
NM_053025.4(MYLK):c.4385A>G (p.Asp1462Gly)
NM_053025.4(MYLK):c.4455A>C (p.Lys1485Asn) rs941766411
NM_053025.4(MYLK):c.4468T>C (p.Trp1490Arg)
NM_053025.4(MYLK):c.4504G>A (p.Glu1502Lys)
NM_053025.4(MYLK):c.4532G>C (p.Ser1511Thr)
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr) rs1560012143
NM_053025.4(MYLK):c.454C>A (p.Arg152Ser) rs559933360
NM_053025.4(MYLK):c.4550A>T (p.His1517Leu)
NM_053025.4(MYLK):c.4568A>G (p.Gln1523Arg)
NM_053025.4(MYLK):c.4621G>A (p.Val1541Met)
NM_053025.4(MYLK):c.4645C>T (p.Arg1549Cys) rs886039186
NM_053025.4(MYLK):c.4659G>T (p.Glu1553Asp)
NM_053025.4(MYLK):c.4678C>T (p.Arg1560Cys)
NM_053025.4(MYLK):c.467G>T (p.Trp156Leu)
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp) rs1347636672
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu) rs1060502534
NM_053025.4(MYLK):c.4720G>A (p.Glu1574Lys)
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) rs1576401641
NM_053025.4(MYLK):c.4807C>G (p.Leu1603Val)
NM_053025.4(MYLK):c.4810A>C (p.Ile1604Leu)
NM_053025.4(MYLK):c.4849T>C (p.Ser1617Pro)
NM_053025.4(MYLK):c.4869C>T (p.Gly1623=)
NM_053025.4(MYLK):c.4915G>A (p.Gly1639Ser) rs143900788
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.4921G>A (p.Ala1641Thr)
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) rs1328179065
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) rs374662467
NM_053025.4(MYLK):c.5138G>A (p.Cys1713Tyr)
NM_053025.4(MYLK):c.5148T>A (p.His1716Gln)
NM_053025.4(MYLK):c.5213A>G (p.Lys1738Arg)
NM_053025.4(MYLK):c.5243C>T (p.Thr1748Met)
NM_053025.4(MYLK):c.52A>G (p.Ser18Gly)
NM_053025.4(MYLK):c.5323G>C (p.Gly1775Arg)
NM_053025.4(MYLK):c.536G>C (p.Arg179Pro)
NM_053025.4(MYLK):c.5402C>T (p.Ala1801Val)
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748
NM_053025.4(MYLK):c.5426C>G (p.Pro1809Arg) rs1553770523
NM_053025.4(MYLK):c.5501G>C (p.Gly1834Ala)
NM_053025.4(MYLK):c.5513C>T (p.Pro1838Leu)
NM_053025.4(MYLK):c.5572G>T (p.Asp1858Tyr)
NM_053025.4(MYLK):c.5578G>A (p.Asp1860Asn)
NM_053025.4(MYLK):c.5605A>G (p.Ile1869Val)
NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu)
NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr)
NM_053025.4(MYLK):c.562C>A (p.Pro188Thr)
NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile)
NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser)
NM_053025.4(MYLK):c.5695G>A (p.Val1899Met) rs1553768575
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile) rs1194619668
NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp)
NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val)
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) rs772426809
NM_053025.4(MYLK):c.617G>A (p.Arg206His)
NM_053025.4(MYLK):c.620T>C (p.Val207Ala)
NM_053025.4(MYLK):c.626T>G (p.Val209Gly)
NM_053025.4(MYLK):c.640G>A (p.Gly214Ser)
NM_053025.4(MYLK):c.646C>G (p.Gln216Glu)
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) rs1553824777
NM_053025.4(MYLK):c.667G>T (p.Val223Phe)
NM_053025.4(MYLK):c.70G>T (p.Val24Phe)
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu) rs202126043
NM_053025.4(MYLK):c.758T>C (p.Leu253Ser)
NM_053025.4(MYLK):c.811G>T (p.Val271Phe)
NM_053025.4(MYLK):c.835A>C (p.Ile279Leu)
NM_053025.4(MYLK):c.839C>G (p.Ser280Ter)
NM_053025.4(MYLK):c.83C>G (p.Pro28Arg)
NM_053025.4(MYLK):c.852G>T (p.Lys284Asn)
NM_053025.4(MYLK):c.856G>C (p.Asp286His)
NM_053025.4(MYLK):c.883A>G (p.Lys295Glu)
NM_053025.4(MYLK):c.916C>G (p.Pro306Ala)
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser)

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