ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 751
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933 0.00035
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
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.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.3112A>G (p.Met1038Val) rs763247566 0.00012
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln) rs758521431 0.00012
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127 0.00010
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) rs202126043 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.2777G>A (p.Arg926His) rs756465340 0.00007
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) rs369576521 0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) rs766027720 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.245A>G (p.Asp82Gly) rs145163155 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.3184G>A (p.Ala1062Thr) rs11558550 0.00006
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) rs201265306 0.00006
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) rs776975714 0.00006
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) rs559933360 0.00006
NM_053025.4(MYLK):c.463A>G (p.Ile155Val) rs368775754 0.00006
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) rs370158852 0.00006
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu) rs150096018 0.00006
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) rs189505310 0.00005
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) rs778578954 0.00005
NM_053025.4(MYLK):c.3855G>T (p.Lys1285Asn) rs527326491 0.00005
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys) rs373683421 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 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.1254C>G (p.Ser418Arg) rs377193216 0.00004
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) rs147311651 0.00004
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) rs375501508 0.00004
NM_053025.4(MYLK):c.1613G>A (p.Arg538Gln) rs368509953 0.00004
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438 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.3395C>T (p.Thr1132Met) rs202025561 0.00004
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys) rs141481369 0.00004
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) rs774223564 0.00004
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) rs752526557 0.00004
NM_053025.4(MYLK):c.5369-8T>A rs780420537 0.00004
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214 0.00004
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg) rs771169789 0.00004
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) rs568039936 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.1360G>A (p.Val454Met) rs746226982 0.00003
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) rs948829374 0.00003
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) rs753464560 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.2599G>A (p.Glu867Lys) rs989370486 0.00003
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys) rs369503342 0.00003
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763 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.344G>A (p.Arg115His) rs141131535 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.3836A>G (p.Gln1279Arg) rs956816227 0.00003
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) rs758161864 0.00003
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) rs757392371 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.859A>G (p.Ser287Gly) rs886057865 0.00003
NM_053025.4(MYLK):c.1433G>A (p.Arg478Gln) rs775483725 0.00002
NM_053025.4(MYLK):c.15G>T (p.Lys5Asn) rs777696799 0.00002
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023 0.00002
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.2407T>C (p.Cys803Arg) rs1373697705 0.00002
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg) rs754817817 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.3527C>T (p.Ala1176Val) rs369094329 0.00002
NM_053025.4(MYLK):c.3566A>G (p.Asp1189Gly) rs762850441 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.3933G>A (p.Leu1311=) rs767798256 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.4519C>T (p.Arg1507Trp) rs142010566 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.4805A>G (p.Lys1602Arg) rs730880165 0.00002
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe) rs1048197599 0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 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.5489G>C (p.Cys1830Ser) rs1302244958 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.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.648G>T (p.Gln216His) rs753350784 0.00002
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu) rs775485777 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.1003A>G (p.Thr335Ala) rs757891156 0.00001
NM_053025.4(MYLK):c.100G>A (p.Ala34Thr) rs760526212 0.00001
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527 0.00001
NM_053025.4(MYLK):c.1226G>A (p.Arg409Lys) rs776506361 0.00001
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) rs779309547 0.00001
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg) rs190877071 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.1399G>A (p.Ala467Thr) rs1424304318 0.00001
NM_053025.4(MYLK):c.1408C>T (p.His470Tyr) rs767330046 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.1438A>G (p.Arg480Gly) rs768369156 0.00001
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) rs149802186 0.00001
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) rs1002989047 0.00001
NM_053025.4(MYLK):c.1490C>T (p.Ser497Phe) rs1052053253 0.00001
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) rs886039189 0.00001
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) rs780888701 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.1618A>T (p.Thr540Ser) rs927903236 0.00001
NM_053025.4(MYLK):c.1657C>T (p.Pro553Ser) rs1410459876 0.00001
NM_053025.4(MYLK):c.1658C>T (p.Pro553Leu) rs757770546 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.1690G>A (p.Gly564Ser) rs1275836800 0.00001
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly) rs748628438 0.00001
NM_053025.4(MYLK):c.1873T>C (p.Phe625Leu) rs1439552576 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.2093G>T (p.Trp698Leu) rs780949312 0.00001
NM_053025.4(MYLK):c.233G>A (p.Arg78His) rs537615379 0.00001
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser) rs554791878 0.00001
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val) rs1229779040 0.00001
NM_053025.4(MYLK):c.2390+6T>C rs569003916 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.2404G>A (p.Glu802Lys) rs1477764878 0.00001
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) rs372019566 0.00001
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) rs1060502538 0.00001
NM_053025.4(MYLK):c.2440A>G (p.Ser814Gly) rs2061220448 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.2481C>G (p.Ser827Arg) rs1131691270 0.00001
NM_053025.4(MYLK):c.2509G>C (p.Gly837Arg) rs1401139381 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.2584G>C (p.Glu862Gln) rs770667051 0.00001
NM_053025.4(MYLK):c.2586G>C (p.Glu862Asp) rs760372891 0.00001
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) rs1285946380 0.00001
NM_053025.4(MYLK):c.2657C>T (p.Ala886Val) rs140989388 0.00001
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616 0.00001
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318 0.00001
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp) rs762375833 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.2974C>T (p.Pro992Ser) rs1391074220 0.00001
NM_053025.4(MYLK):c.2978C>T (p.Ala993Val) rs753339459 0.00001
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110 0.00001
NM_053025.4(MYLK):c.2987G>A (p.Gly996Asp) rs761654890 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.3085G>A (p.Ala1029Thr) rs1302330903 0.00001
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) rs568590920 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.3209A>G (p.Asp1070Gly) rs751450529 0.00001
NM_053025.4(MYLK):c.3316G>C (p.Asp1106His) rs1279342455 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.3608C>T (p.Ser1203Phe) rs777876067 0.00001
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala) rs766218230 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) rs564792567 0.00001
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740 0.00001
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) rs766866941 0.00001
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) rs755117377 0.00001
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) rs749921840 0.00001
NM_053025.4(MYLK):c.4027A>G (p.Ile1343Val) rs2059422087 0.00001
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) rs141271656 0.00001
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) rs747543921 0.00001
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys) rs2059418764 0.00001
NM_053025.4(MYLK):c.4165T>G (p.Phe1389Val) rs765421400 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.4289-3C>A rs775802631 0.00001
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) rs771619672 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.4460G>A (p.Arg1487Gln) rs369356239 0.00001
NM_053025.4(MYLK):c.4475G>A (p.Gly1492Glu) rs1214008612 0.00001
NM_053025.4(MYLK):c.4534A>G (p.Ile1512Val) rs756490769 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.4837+3A>G rs1457363329 0.00001
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) rs758272545 0.00001
NM_053025.4(MYLK):c.493del (p.Thr165fs) rs748806035 0.00001
NM_053025.4(MYLK):c.5119C>T (p.Arg1707Cys) rs1060502530 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.536G>A (p.Arg179Gln) rs1052930526 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.5449G>A (p.Asp1817Asn) rs746327636 0.00001
NM_053025.4(MYLK):c.5558G>A (p.Arg1853His) rs375758782 0.00001
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) rs532767014 0.00001
NM_053025.4(MYLK):c.5642C>G (p.Thr1881Ser) rs1232047611 0.00001
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile) rs368231398 0.00001
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880 0.00001
NM_053025.4(MYLK):c.5741A>G (p.Glu1914Gly) rs1421911091 0.00001
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys) rs148174313 0.00001
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544 0.00001
NM_053025.4(MYLK):c.706G>A (p.Val236Met) rs923797303 0.00001
NM_053025.4(MYLK):c.753A>G (p.Gln251=) rs964781965 0.00001
NM_053025.4(MYLK):c.754+6G>A rs528165593 0.00001
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013 0.00001
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser) rs745524804 0.00001
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) rs746464484 0.00001
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys) rs545515041 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
NC_000003.11:g.(?_123332942)_(123512698_?)dup
NC_000003.11:g.(?_123401058)_(123401181_?)dup
NC_000003.11:g.(?_123401061)_(123404712_?)dup
NC_000003.11:g.(?_123426778)_(123453370_?)del
NC_000003.12:g.(?_123682204)_(123682330_?)del
NC_000003.12:g.(?_123682214)_(123682320_?)del
NM_053025.4(MYLK):c.1016A>G (p.Gln339Arg) rs2108792544
NM_053025.4(MYLK):c.1018A>G (p.Lys340Glu)
NM_053025.4(MYLK):c.1025C>T (p.Ser342Phe)
NM_053025.4(MYLK):c.1037C>A (p.Thr346Asn) rs1321752866
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) rs532659627
NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser)
NM_053025.4(MYLK):c.1061C>A (p.Pro354Gln)
NM_053025.4(MYLK):c.1076_1077dup (p.Gly360fs)
NM_053025.4(MYLK):c.1090dup (p.Leu364fs) rs2108792043
NM_053025.4(MYLK):c.1103G>A (p.Gly368Glu) rs2062581349
NM_053025.4(MYLK):c.1108dup (p.Glu370fs)
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) rs374894375
NM_053025.4(MYLK):c.1127C>T (p.Pro376Leu)
NM_053025.4(MYLK):c.1141A>G (p.Thr381Ala)
NM_053025.4(MYLK):c.1142C>G (p.Thr381Ser)
NM_053025.4(MYLK):c.1151C>T (p.Thr384Ile) rs769450736
NM_053025.4(MYLK):c.1153A>G (p.Arg385Gly) rs777019877
NM_053025.4(MYLK):c.1159C>A (p.Pro387Thr) rs2062577743
NM_053025.4(MYLK):c.1168G>A (p.Gly390Arg)
NM_053025.4(MYLK):c.1174C>T (p.Gln392Ter)
NM_053025.4(MYLK):c.118C>T (p.Arg40Trp)
NM_053025.4(MYLK):c.1192G>C (p.Ala398Pro) rs2108791428
NM_053025.4(MYLK):c.1205G>A (p.Arg402Lys) rs2062575448
NM_053025.4(MYLK):c.1218G>C (p.Glu406Asp)
NM_053025.4(MYLK):c.1219G>A (p.Gly407Ser) rs199719143
NM_053025.4(MYLK):c.1253G>A (p.Ser418Asn) rs2062572965
NM_053025.4(MYLK):c.1259C>T (p.Pro420Leu)
NM_053025.4(MYLK):c.1270G>A (p.Glu424Lys) rs1302739464
NM_053025.4(MYLK):c.1289C>G (p.Thr430Ser) rs1386279142
NM_053025.4(MYLK):c.1289C>T (p.Thr430Ile)
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.4(MYLK):c.1309+5G>A
NM_053025.4(MYLK):c.1310-1G>A rs1453215880
NM_053025.4(MYLK):c.1310-2A>G
NM_053025.4(MYLK):c.1313C>T (p.Ser438Phe)
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1352G>T (p.Gly451Val)
NM_053025.4(MYLK):c.1357C>G (p.Pro453Ala)
NM_053025.4(MYLK):c.1357C>T (p.Pro453Ser)
NM_053025.4(MYLK):c.1370A>G (p.Gln457Arg) rs1475351353
NM_053025.4(MYLK):c.1382T>C (p.Ile461Thr)
NM_053025.4(MYLK):c.1387G>T (p.Val463Phe) rs748756189
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp)
NM_053025.4(MYLK):c.1396G>A (p.Asp466Asn) rs1060502529
NM_053025.4(MYLK):c.1400C>G (p.Ala467Gly) rs878855175
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
NM_053025.4(MYLK):c.1420C>G (p.Leu474Val)
NM_053025.4(MYLK):c.1429G>A (p.Ala477Thr)
NM_053025.4(MYLK):c.143C>G (p.Ala48Gly) rs1060502537
NM_053025.4(MYLK):c.1456A>G (p.Ser486Gly)
NM_053025.4(MYLK):c.1456A>T (p.Ser486Cys)
NM_053025.4(MYLK):c.1480G>C (p.Gly494Arg) rs1002989047
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) rs1052992526
NM_053025.4(MYLK):c.149C>A (p.Ala50Asp)
NM_053025.4(MYLK):c.1507C>G (p.Gln503Glu)
NM_053025.4(MYLK):c.1531G>A (p.Glu511Lys)
NM_053025.4(MYLK):c.1538C>T (p.Ala513Val)
NM_053025.4(MYLK):c.1553G>T (p.Ser518Ile) rs2062270090
NM_053025.4(MYLK):c.1579G>A (p.Glu527Lys)
NM_053025.4(MYLK):c.1585C>G (p.Gln529Glu) rs2062268617
NM_053025.4(MYLK):c.1594G>C (p.Val532Leu) rs750871704
NM_053025.4(MYLK):c.1595del (p.Val532fs)
NM_053025.4(MYLK):c.15G>C (p.Lys5Asn)
NM_053025.4(MYLK):c.1624G>C (p.Val542Leu)
NM_053025.4(MYLK):c.1651+1G>A rs1560135856
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg)
NM_053025.4(MYLK):c.1652-2A>C
NM_053025.4(MYLK):c.1670C>T (p.Ala557Val)
NM_053025.4(MYLK):c.1676C>T (p.Ser559Phe) rs1263021557
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys) rs765972446
NM_053025.4(MYLK):c.1693G>C (p.Val565Leu)
NM_053025.4(MYLK):c.169C>G (p.Arg57Gly)
NM_053025.4(MYLK):c.170G>A (p.Arg57Gln)
NM_053025.4(MYLK):c.1711C>T (p.Gln571Ter) rs2108740070
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) rs2062115226
NM_053025.4(MYLK):c.1773G>C (p.Gln591His)
NM_053025.4(MYLK):c.1778C>T (p.Ser593Phe)
NM_053025.4(MYLK):c.178C>G (p.Pro60Ala) rs2063229998
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu) rs1060502532
NM_053025.4(MYLK):c.1802A>G (p.His601Arg) rs45477891
NM_053025.4(MYLK):c.1804+5G>T
NM_053025.4(MYLK):c.1815T>C (p.Ser605=)
NM_053025.4(MYLK):c.1818C>G (p.Ser606Arg)
NM_053025.4(MYLK):c.1831T>C (p.Tyr611His)
NM_053025.4(MYLK):c.1853G>A (p.Ser618Asn) rs2061620897
NM_053025.4(MYLK):c.1854C>G (p.Ser618Arg)
NM_053025.4(MYLK):c.1855A>G (p.Lys619Glu)
NM_053025.4(MYLK):c.1865C>T (p.Ala622Val)
NM_053025.4(MYLK):c.1867C>T (p.Pro623Ser)
NM_053025.4(MYLK):c.1879C>A (p.Gln627Lys)
NM_053025.4(MYLK):c.1939T>C (p.Ser647Pro)
NM_053025.4(MYLK):c.1941A>C (p.Ser647=) rs1241420717
NM_053025.4(MYLK):c.1942+1G>T
NM_053025.4(MYLK):c.1954C>A (p.Pro652Thr)
NM_053025.4(MYLK):c.1958A>G (p.Glu653Gly)
NM_053025.4(MYLK):c.1963A>T (p.Ile655Phe) rs763435946
NM_053025.4(MYLK):c.1966T>C (p.Trp656Arg) rs2061567604
NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1979G>A (p.Gly660Glu) rs2061567012
NM_053025.4(MYLK):c.1981A>G (p.Asn661Asp)
NM_053025.4(MYLK):c.198G>A (p.Trp66Ter)
NM_053025.4(MYLK):c.1990C>T (p.Gln664Ter) rs1553809100
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu) rs2061566265
NM_053025.4(MYLK):c.1A>G (p.Met1Val) rs776588381
NM_053025.4(MYLK):c.2005T>G (p.Phe669Val)
NM_053025.4(MYLK):c.2027C>G (p.Thr676Ser)
NM_053025.4(MYLK):c.2030A>G (p.Gln677Arg) rs2108643039
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg) rs144923036
NM_053025.4(MYLK):c.2065G>A (p.Asp689Asn) rs762903028
NM_053025.4(MYLK):c.2079C>A (p.Tyr693Ter)
NM_053025.4(MYLK):c.2080A>C (p.Thr694Pro)
NM_053025.4(MYLK):c.2080A>G (p.Thr694Ala)
NM_053025.4(MYLK):c.2085C>G (p.Cys695Trp) rs780052122
NM_053025.4(MYLK):c.2108A>T (p.Glu703Val)
NM_053025.4(MYLK):c.2115C>T (p.Arg705=)
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) rs768134055
NM_053025.4(MYLK):c.2121G>C (p.Gln707His)
NM_053025.4(MYLK):c.2125G>T (p.Val709Leu) rs112537316
NM_053025.4(MYLK):c.2127_2137del (p.Leu710fs)
NM_053025.4(MYLK):c.2140+3G>T
NM_053025.4(MYLK):c.2140+5G>C rs758546370
NM_053025.4(MYLK):c.2140+6G>C
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2153G>C (p.Gly718Ala)
NM_053025.4(MYLK):c.215C>G (p.Pro72Arg)
NM_053025.4(MYLK):c.2164T>G (p.Trp722Gly)
NM_053025.4(MYLK):c.2165G>A (p.Trp722Ter) rs776115724
NM_053025.4(MYLK):c.2171T>C (p.Ile724Thr)
NM_053025.4(MYLK):c.2188G>C (p.Val730Leu) rs2061526429
NM_053025.4(MYLK):c.2194G>C (p.Ala732Pro)
NM_053025.4(MYLK):c.2203G>A (p.Gly735Ser)
NM_053025.4(MYLK):c.2210G>A (p.Ser737Asn)
NM_053025.4(MYLK):c.2222C>T (p.Ser741Phe)
NM_053025.4(MYLK):c.2225G>A (p.Cys742Tyr) rs2108635885
NM_053025.4(MYLK):c.2228C>A (p.Ala743Asp)
NM_053025.4(MYLK):c.222_227del (p.Ser75_Gly76del) rs2108881345
NM_053025.4(MYLK):c.2232A>G (p.Ile744Met)
NM_053025.4(MYLK):c.2237G>A (p.Gly746Asp)
NM_053025.4(MYLK):c.2243C>A (p.Pro748His)
NM_053025.4(MYLK):c.2260T>C (p.Trp754Arg) rs774187263
NM_053025.4(MYLK):c.2273G>T (p.Gly758Val) rs2108635570
NM_053025.4(MYLK):c.229G>C (p.Gly77Arg) rs139000120
NM_053025.4(MYLK):c.2318A>G (p.Asn773Ser)
NM_053025.4(MYLK):c.232C>G (p.Arg78Gly)
NM_053025.4(MYLK):c.2330T>C (p.Phe777Ser)
NM_053025.4(MYLK):c.2351T>C (p.Val784Ala)
NM_053025.4(MYLK):c.2352G>A (p.Val784=)
NM_053025.4(MYLK):c.2365G>A (p.Ala789Thr)
NM_053025.4(MYLK):c.2381T>A (p.Ile794Asn) rs1365992021
NM_053025.4(MYLK):c.2389A>C (p.Lys797Gln)
NM_053025.4(MYLK):c.2394C>A (p.Asn798Lys)
NM_053025.4(MYLK):c.2411G>A (p.Ser804Asn)
NM_053025.4(MYLK):c.2416C>T (p.Gln806Ter)
NM_053025.4(MYLK):c.2417A>G (p.Gln806Arg)
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) rs1553805024
NM_053025.4(MYLK):c.2432T>A (p.Leu811Gln)
NM_053025.4(MYLK):c.2435A>G (p.Gln812Arg)
NM_053025.4(MYLK):c.2444C>T (p.Ser815Phe)
NM_053025.4(MYLK):c.2453C>T (p.Ala818Val)
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) rs748575040
NM_053025.4(MYLK):c.2462+6T>C
NM_053025.4(MYLK):c.2463-3C>A
NM_053025.4(MYLK):c.2463G>T (p.Arg821=) rs562829000
NM_053025.4(MYLK):c.2464G>A (p.Gly822Arg) rs776358725
NM_053025.4(MYLK):c.2464G>C (p.Gly822Arg)
NM_053025.4(MYLK):c.2482T>C (p.Cys828Arg)
NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr) rs2108881147
NM_053025.4(MYLK):c.2492T>G (p.Leu831Arg) rs1560097299
NM_053025.4(MYLK):c.2495G>A (p.Cys832Tyr) rs1553804523
NM_053025.4(MYLK):c.2501G>A (p.Gly834Glu) rs2061181685
NM_053025.4(MYLK):c.2503G>C (p.Gly835Arg)
NM_053025.4(MYLK):c.2506G>T (p.Val836Phe) rs1164306894
NM_053025.4(MYLK):c.2518GGT[2] (p.Gly842del) rs2061179969
NM_053025.4(MYLK):c.2569G>A (p.Gly857Arg)
NM_053025.4(MYLK):c.2569G>C (p.Gly857Arg)
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly) rs368822172
NM_053025.4(MYLK):c.2573A>G (p.Gln858Arg)
NM_053025.4(MYLK):c.2579G>T (p.Trp860Leu)
NM_053025.4(MYLK):c.2588_2596dup (p.Asp865_Gly866insGluGluAsp)
NM_053025.4(MYLK):c.2592del (p.Asp865fs)
NM_053025.4(MYLK):c.2598del (p.Glu867fs)
NM_053025.4(MYLK):c.2608C>G (p.Arg870Gly) rs865903260
NM_053025.4(MYLK):c.2608C>T (p.Arg870Ter) rs865903260
NM_053025.4(MYLK):c.2609G>A (p.Arg870Gln)
NM_053025.4(MYLK):c.2612G>A (p.Gly871Glu)
NM_053025.4(MYLK):c.2612G>C (p.Gly871Ala) rs1358465403
NM_053025.4(MYLK):c.261G>T (p.Gly87=) rs1488303630
NM_053025.4(MYLK):c.2620A>G (p.Lys874Glu)
NM_053025.4(MYLK):c.2629G>T (p.Val877Leu) rs34542174
NM_053025.4(MYLK):c.2654A>C (p.Glu885Ala)
NM_053025.4(MYLK):c.2663G>T (p.Arg888Leu)
NM_053025.4(MYLK):c.2669A>G (p.Gln890Arg)
NM_053025.4(MYLK):c.2674G>A (p.Val892Met) rs769601826
NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg)
NM_053025.4(MYLK):c.2687A>G (p.Asp896Gly)
NM_053025.4(MYLK):c.2690T>C (p.Phe897Ser)
NM_053025.4(MYLK):c.2692C>T (p.Arg898Ter)
NM_053025.4(MYLK):c.2707A>C (p.Lys903Gln)
NM_053025.4(MYLK):c.2739C>A (p.Asp913Glu)
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.2769G>A (p.Met923Ile) rs2061162156
NM_053025.4(MYLK):c.2776C>G (p.Arg926Gly)
NM_053025.4(MYLK):c.2780C>T (p.Ala927Val)
NM_053025.4(MYLK):c.2785C>A (p.Leu929Met)
NM_053025.4(MYLK):c.2804C>T (p.Pro935Leu) rs1359230351
NM_053025.4(MYLK):c.2818G>A (p.Glu940Lys)
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2842C>T (p.Pro948Ser)
NM_053025.4(MYLK):c.2849A>C (p.Gln950Pro) rs200536833
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn) rs971096950
NM_053025.4(MYLK):c.2855A>G (p.Asp952Gly)
NM_053025.4(MYLK):c.2857T>C (p.Phe953Leu)
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser) rs201266960
NM_053025.4(MYLK):c.2885C>T (p.Thr962Ile) rs201266960
NM_053025.4(MYLK):c.2894C>A (p.Thr965Asn)
NM_053025.4(MYLK):c.290A>G (p.His97Arg)
NM_053025.4(MYLK):c.2911G>A (p.Val971Met) rs1199429329
NM_053025.4(MYLK):c.2911G>C (p.Val971Leu)
NM_053025.4(MYLK):c.2926C>A (p.Pro976Thr)
NM_053025.4(MYLK):c.2926C>T (p.Pro976Ser)
NM_053025.4(MYLK):c.2927C>A (p.Pro976His)
NM_053025.4(MYLK):c.2927C>G (p.Pro976Arg) rs2061152157
NM_053025.4(MYLK):c.2945G>A (p.Arg982His)
NM_053025.4(MYLK):c.2956G>C (p.Gly986Arg)
NM_053025.4(MYLK):c.2969A>G (p.Lys990Arg)
NM_053025.4(MYLK):c.2974C>G (p.Pro992Ala) rs1391074220
NM_053025.4(MYLK):c.2975C>G (p.Pro992Arg)
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile)
NM_053025.4(MYLK):c.3002A>C (p.Glu1001Ala)
NM_053025.4(MYLK):c.3037C>T (p.Pro1013Ser) rs2108580526
NM_053025.4(MYLK):c.3047A>G (p.Asn1016Ser)
NM_053025.4(MYLK):c.305G>T (p.Gly102Val) rs758300915
NM_053025.4(MYLK):c.3083A>G (p.Asn1028Ser)
NM_053025.4(MYLK):c.3089A>G (p.Lys1030Arg)
NM_053025.4(MYLK):c.3095C>T (p.Ala1032Val)
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.3109C>G (p.Pro1037Ala)
NM_053025.4(MYLK):c.3120_3155del (p.1032_1043AETLKPMGNAKP[1]) rs779483683
NM_053025.4(MYLK):c.3120_3155dup (p.Pro1055_Asp1056insAlaGluThrLeuLysProMetGlyAsnAlaLysPro)
NM_053025.4(MYLK):c.3131C>T (p.Ala1044Val)
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1]) rs1560093606
NM_053025.4(MYLK):c.3136A>G (p.Thr1046Ala)
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3146_3147insAATGGGCAACGCCAAGCCTGCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTGCCGAGACCCTGAAGCC (p.1032AETLKPMGNAKP[4]) rs2108579335
NM_053025.4(MYLK):c.3149T>A (p.Met1050Lys)
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr)
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3210_3211delinsTA (p.Val1071Ile)
NM_053025.4(MYLK):c.3247G>A (p.Gly1083Arg) rs772444197
NM_053025.4(MYLK):c.3287C>T (p.Thr1096Ile) rs2108577683
NM_053025.4(MYLK):c.3289G>A (p.Ala1097Thr)
NM_053025.4(MYLK):c.3295G>A (p.Ala1099Thr)
NM_053025.4(MYLK):c.3302A>G (p.Lys1101Arg)
NM_053025.4(MYLK):c.3319G>A (p.Val1107Ile)
NM_053025.4(MYLK):c.3329C>T (p.Ala1110Val) rs1262789998
NM_053025.4(MYLK):c.3331G>C (p.Glu1111Gln) rs1560092803
NM_053025.4(MYLK):c.3343C>G (p.Leu1115Val)
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro) rs1576620071
NM_053025.4(MYLK):c.338G>T (p.Gly113Val)
NM_053025.4(MYLK):c.3402_3403delinsTA (p.Gly1135Arg) rs2108576642
NM_053025.4(MYLK):c.3421A>G (p.Thr1141Ala) rs1221733896
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) rs1560092388
NM_053025.4(MYLK):c.3478G>C (p.Ala1160Pro)
NM_053025.4(MYLK):c.3484C>T (p.Pro1162Ser)
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) rs758839208
NM_053025.4(MYLK):c.3559G>A (p.Val1187Met)
NM_053025.4(MYLK):c.3565+3_3565+6del rs1576580586
NM_053025.4(MYLK):c.3569C>T (p.Ala1190Val)
NM_053025.4(MYLK):c.3578G>T (p.Ser1193Ile)
NM_053025.4(MYLK):c.358G>A (p.Glu120Lys) rs2063221778
NM_053025.4(MYLK):c.358G>C (p.Glu120Gln)
NM_053025.4(MYLK):c.3590A>G (p.Lys1197Arg)
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys) rs2108456120
NM_053025.4(MYLK):c.3616C>T (p.Pro1206Ser)
NM_053025.4(MYLK):c.3626C>T (p.Ser1209Phe)
NM_053025.4(MYLK):c.3635C>A (p.Pro1212His) rs2060292256
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.3653G>A (p.Ser1218Asn)
NM_053025.4(MYLK):c.3659C>A (p.Ala1220Glu)
NM_053025.4(MYLK):c.3671A>C (p.Lys1224Thr)
NM_053025.4(MYLK):c.367G>A (p.Val123Ile)
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp) rs1056087101
NM_053025.4(MYLK):c.373+3G>A
NM_053025.4(MYLK):c.373+6T>A rs2063220564
NM_053025.4(MYLK):c.3730C>T (p.Pro1244Ser)
NM_053025.4(MYLK):c.3731C>G (p.Pro1244Arg)
NM_053025.4(MYLK):c.3731C>T (p.Pro1244Leu)
NM_053025.4(MYLK):c.374-3C>A rs1473632768
NM_053025.4(MYLK):c.3745G>T (p.Val1249Leu)
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr)
NM_053025.4(MYLK):c.3751G>T (p.Ala1251Ser)
NM_053025.4(MYLK):c.3781G>A (p.Val1261Met)
NM_053025.4(MYLK):c.3782T>G (p.Val1261Gly) rs2108339820
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) rs1553788596
NM_053025.4(MYLK):c.3802A>G (p.Thr1268Ala)
NM_053025.4(MYLK):c.3808A>T (p.Thr1270Ser)
NM_053025.4(MYLK):c.382G>T (p.Ala128Ser) rs147840022
NM_053025.4(MYLK):c.382_383delinsCT (p.Ala128Leu)
NM_053025.4(MYLK):c.3831+3C>T
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser) rs1576474081
NM_053025.4(MYLK):c.3869A>C (p.Glu1290Ala)
NM_053025.4(MYLK):c.3893T>C (p.Leu1298Pro)
NM_053025.4(MYLK):c.3919T>C (p.Cys1307Arg) rs2108324120
NM_053025.4(MYLK):c.391C>T (p.Leu131Phe)
NM_053025.4(MYLK):c.3949G>T (p.Gly1317Cys)
NM_053025.4(MYLK):c.394G>C (p.Gly132Arg)
NM_053025.4(MYLK):c.3966G>C (p.Gln1322His) rs2108323798
NM_053025.4(MYLK):c.400C>G (p.Pro134Ala) rs2062808147
NM_053025.4(MYLK):c.4033A>C (p.Ser1345Arg)
NM_053025.4(MYLK):c.404T>A (p.Val135Asp) rs2108820532
NM_053025.4(MYLK):c.404T>C (p.Val135Ala)
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) rs886057859
NM_053025.4(MYLK):c.4055G>T (p.Trp1352Leu) rs2059420831
NM_053025.4(MYLK):c.4064C>T (p.Ser1355Phe)
NM_053025.4(MYLK):c.4074T>A (p.Asp1358Glu)
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.4(MYLK):c.4114G>C (p.Asp1372His)
NM_053025.4(MYLK):c.4167C>A (p.Phe1389Leu) rs1429674752
NM_053025.4(MYLK):c.4169A>G (p.Asn1390Ser)
NM_053025.4(MYLK):c.4171G>A (p.Val1391Ile)
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His) rs1286895921
NM_053025.4(MYLK):c.4213C>G (p.Arg1405Gly)
NM_053025.4(MYLK):c.4219A>G (p.Ile1407Val)
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.423-12A>G
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) rs758305428
NM_053025.4(MYLK):c.4262T>C (p.Leu1421Pro)
NM_053025.4(MYLK):c.4269G>T (p.Thr1423=)
NM_053025.4(MYLK):c.4270G>A (p.Val1424Ile) rs553263281
NM_053025.4(MYLK):c.4289-2dup
NM_053025.4(MYLK):c.431T>G (p.Phe144Cys)
NM_053025.4(MYLK):c.4322-9_4322-8delinsTT
NM_053025.4(MYLK):c.4333C>T (p.Pro1445Ser) rs2108198278
NM_053025.4(MYLK):c.4343A>G (p.Asp1448Gly)
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile) rs2059118422
NM_053025.4(MYLK):c.4390T>C (p.Tyr1464His) rs2108197416
NM_053025.4(MYLK):c.4415C>A (p.Ser1472Tyr)
NM_053025.4(MYLK):c.4415C>T (p.Ser1472Phe)
NM_053025.4(MYLK):c.443C>T (p.Ala148Val)
NM_053025.4(MYLK):c.4453A>G (p.Lys1485Glu)
NM_053025.4(MYLK):c.4455A>C (p.Lys1485Asn) rs941766411
NM_053025.4(MYLK):c.4484T>C (p.Phe1495Ser)
NM_053025.4(MYLK):c.4493A>G (p.Tyr1498Cys)
NM_053025.4(MYLK):c.4495T>A (p.Ser1499Thr)
NM_053025.4(MYLK):c.4504G>A (p.Glu1502Lys)
NM_053025.4(MYLK):c.4514A>G (p.Asn1505Ser)
NM_053025.4(MYLK):c.452C>A (p.Thr151Asn) rs1028014401
NM_053025.4(MYLK):c.4532G>C (p.Ser1511Thr)
NM_053025.4(MYLK):c.454C>A (p.Arg152Ser) rs559933360
NM_053025.4(MYLK):c.4567C>A (p.Gln1523Lys) rs1576422561
NM_053025.4(MYLK):c.4568A>G (p.Gln1523Arg)
NM_053025.4(MYLK):c.4578T>A (p.Asp1526Glu)
NM_053025.4(MYLK):c.4607T>C (p.Met1536Thr)
NM_053025.4(MYLK):c.461G>C (p.Ser154Thr)
NM_053025.4(MYLK):c.4621G>A (p.Val1541Met)
NM_053025.4(MYLK):c.463A>C (p.Ile155Leu) rs368775754
NM_053025.4(MYLK):c.4645C>T (p.Arg1549Cys) rs886039186
NM_053025.4(MYLK):c.4646G>A (p.Arg1549His)
NM_053025.4(MYLK):c.4652T>C (p.Ile1551Thr)
NM_053025.4(MYLK):c.4668G>T (p.Glu1556Asp)
NM_053025.4(MYLK):c.467G>A (p.Trp156Ter)
NM_053025.4(MYLK):c.467G>T (p.Trp156Leu)
NM_053025.4(MYLK):c.468G>A (p.Trp156Ter) rs1560156324
NM_053025.4(MYLK):c.4691A>G (p.Lys1564Arg)
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.4715G>C (p.Gly1572Ala) rs1060502534
NM_053025.4(MYLK):c.4716A>T (p.Gly1572=) rs930654853
NM_053025.4(MYLK):c.472del (p.Glu158fs) rs770373926
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) rs1399378417
NM_053025.4(MYLK):c.4748A>G (p.His1583Arg) rs1553778145
NM_053025.4(MYLK):c.4783_4784delinsGT (p.Asn1595Val) rs2108110442
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) rs1060502536
NM_053025.4(MYLK):c.4833G>T (p.Arg1611Ser) rs199792889
NM_053025.4(MYLK):c.4842T>A (p.Asn1614Lys) rs820463
NM_053025.4(MYLK):c.4850C>A (p.Ser1617Tyr)
NM_053025.4(MYLK):c.485A>T (p.Lys162Met)
NM_053025.4(MYLK):c.4885G>C (p.Ala1629Pro)
NM_053025.4(MYLK):c.4904A>C (p.Tyr1635Ser) rs2108088974
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.4915_4916delinsAC (p.Gly1639Thr) rs2108088792
NM_053025.4(MYLK):c.4942G>A (p.Gly1648Arg) rs2058709315
NM_053025.4(MYLK):c.4955A>G (p.Tyr1652Cys) rs1479057382
NM_053025.4(MYLK):c.4960C>T (p.Leu1654=)
NM_053025.4(MYLK):c.511G>A (p.Val171Met)
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.513_514delinsTT (p.Val172Phe) rs2108815942
NM_053025.4(MYLK):c.5162A>G (p.Lys1721Arg)
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) rs761266023
NM_053025.4(MYLK):c.5218A>G (p.Met1740Val)
NM_053025.4(MYLK):c.5252C>A (p.Ala1751Asp)
NM_053025.4(MYLK):c.526C>G (p.Gln176Glu)
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) rs1337673131
NM_053025.4(MYLK):c.5300T>C (p.Leu1767Pro)
NM_053025.4(MYLK):c.531G>A (p.Met177Ile) rs2108815826
NM_053025.4(MYLK):c.532G>A (p.Gly178Arg)
NM_053025.4(MYLK):c.5339C>T (p.Pro1780Leu) rs200088151
NM_053025.4(MYLK):c.5347G>C (p.Ala1783Pro)
NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys) rs2107889103
NM_053025.4(MYLK):c.5368G>A (p.Glu1790Lys)
NM_053025.4(MYLK):c.5369A>C (p.Glu1790Ala)
NM_053025.4(MYLK):c.5370A>G (p.Glu1790=)
NM_053025.4(MYLK):c.5377T>G (p.Ser1793Ala) rs1553770582
NM_053025.4(MYLK):c.5382A>C (p.Gln1794His) rs1576311533
NM_053025.4(MYLK):c.5407G>A (p.Glu1803Lys) rs2057663405
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748
NM_053025.4(MYLK):c.5414C>A (p.Pro1805His)
NM_053025.4(MYLK):c.5417A>C (p.His1806Pro)
NM_053025.4(MYLK):c.5438A>C (p.Lys1813Thr) rs762029282
NM_053025.4(MYLK):c.5485G>T (p.Asp1829Tyr)
NM_053025.4(MYLK):c.5488T>A (p.Cys1830Ser) rs2107863286
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) rs1302244958
NM_053025.4(MYLK):c.5494A>T (p.Ile1832Phe)
NM_053025.4(MYLK):c.5515G>A (p.Glu1839Lys) rs369358803
NM_053025.4(MYLK):c.5519T>C (p.Val1840Ala)
NM_053025.4(MYLK):c.5541_5544del (p.Ile1849fs) rs2057343514
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) rs1057518439
NM_053025.4(MYLK):c.5587G>A (p.Gly1863Arg) rs1559957355
NM_053025.4(MYLK):c.5597C>T (p.Ser1866Phe)
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) rs762477499
NM_053025.4(MYLK):c.5623G>A (p.Asp1875Asn)
NM_053025.4(MYLK):c.562C>A (p.Pro188Thr)
NM_053025.4(MYLK):c.5650G>A (p.Ala1884Thr) rs149339426
NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly) rs2057335896
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) rs1560155884
NM_053025.4(MYLK):c.5690T>G (p.Leu1897Arg)
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile) rs1194619668
NM_053025.4(MYLK):c.5715_5720del (p.1905GE[2])
NM_053025.4(MYLK):c.5720_5731del (p.1905GE[1]) rs781353257
NM_053025.4(MYLK):c.5727GGAAGA[3] (p.Glu1913_Glu1914dup) rs1576282420
NM_053025.4(MYLK):c.5731G>T (p.Glu1911Ter)
NM_053025.4(MYLK):c.5734G>A (p.Glu1912Lys)
NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del) rs974109787
NM_053025.4(MYLK):c.574G>A (p.Val192Ile)
NM_053025.4(MYLK):c.588G>C (p.Lys196Asn) rs2062768601
NM_053025.4(MYLK):c.590G>A (p.Gly197Glu)
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) rs772426809
NM_053025.4(MYLK):c.608C>T (p.Pro203Leu) rs772426809
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) rs878855176
NM_053025.4(MYLK):c.617G>A (p.Arg206His)
NM_053025.4(MYLK):c.617G>T (p.Arg206Leu) rs367649461
NM_053025.4(MYLK):c.61_62delinsTA (p.Pro21Tyr)
NM_053025.4(MYLK):c.626T>C (p.Val209Ala) rs746239128
NM_053025.4(MYLK):c.627_628del (p.Val209_Ser210insTer) rs2062717894
NM_053025.4(MYLK):c.640G>A (p.Gly214Ser)
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) rs1553824777
NM_053025.4(MYLK):c.655G>A (p.Glu219Lys)
NM_053025.4(MYLK):c.658A>G (p.Ile220Val)
NM_053025.4(MYLK):c.65C>T (p.Ser22Leu)
NM_053025.4(MYLK):c.664G>A (p.Gly222Arg)
NM_053025.4(MYLK):c.676G>A (p.Asp226Asn)
NM_053025.4(MYLK):c.67A>G (p.Arg23Gly)
NM_053025.4(MYLK):c.697T>G (p.Cys233Gly)
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser) rs1576794625
NM_053025.4(MYLK):c.711C>G (p.Asn237Lys) rs149407805
NM_053025.4(MYLK):c.713G>A (p.Gly238Glu)
NM_053025.4(MYLK):c.724G>A (p.Ala242Thr)
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu) rs202126043
NM_053025.4(MYLK):c.739del (p.Glu247fs) rs2062712554
NM_053025.4(MYLK):c.754G>A (p.Gly252Ser)
NM_053025.4(MYLK):c.770A>G (p.Asn257Ser)
NM_053025.4(MYLK):c.774-3C>T rs1576782513
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr) rs2064882893
NM_053025.4(MYLK):c.822G>T (p.Glu274Asp)
NM_053025.4(MYLK):c.823G>A (p.Val275Met)
NM_053025.4(MYLK):c.825del (p.Thr276fs)
NM_053025.4(MYLK):c.835A>G (p.Ile279Val) rs2062594836
NM_053025.4(MYLK):c.83C>G (p.Pro28Arg)
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) rs1560148831
NM_053025.4(MYLK):c.869C>T (p.Ala290Val)
NM_053025.4(MYLK):c.884A>C (p.Lys295Thr)
NM_053025.4(MYLK):c.890G>C (p.Cys297Ser)
NM_053025.4(MYLK):c.899C>G (p.Pro300Arg)
NM_053025.4(MYLK):c.92A>G (p.Glu31Gly) rs2064878239
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser)
NM_053025.4(MYLK):c.943C>T (p.Gln315Ter)
NM_053025.4(MYLK):c.949C>G (p.Pro317Ala)
NM_053025.4(MYLK):c.957G>T (p.Glu319Asp)
NM_053025.4(MYLK):c.961A>G (p.Lys321Glu)
NM_053025.4(MYLK):c.964C>A (p.Leu322Met)
NM_053025.4(MYLK):c.983del (p.Ser328fs) rs2108792839
NM_053025.4(MYLK):c.985C>G (p.Pro329Ala) rs1406169210
NM_053025.4(MYLK):c.992C>A (p.Thr331Lys) rs371825849
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.