ClinVar Miner

List of variants in gene MYLK studied for Aortic aneurysm, familial thoracic 7

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Gene type:
ClinVar version:
Total variants: 570
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HGVS dbSNP
NC_000003.12:g.(?_123682204)_(123682330_?)del
NC_000003.12:g.(?_123682214)_(123682320_?)del
NM_053025.4(MYLK):c.*1040G>A
NM_053025.4(MYLK):c.*1070T>A
NM_053025.4(MYLK):c.*1090A>G
NM_053025.4(MYLK):c.*1134C>T
NM_053025.4(MYLK):c.*1135G>A rs150645157
NM_053025.4(MYLK):c.*1191T>C rs756047939
NM_053025.4(MYLK):c.*1210T>C rs886057841
NM_053025.4(MYLK):c.*1509A>G
NM_053025.4(MYLK):c.*1519T>C
NM_053025.4(MYLK):c.*1538A>G rs116709353
NM_053025.4(MYLK):c.*1576G>A rs769291281
NM_053025.4(MYLK):c.*1630G>A rs886057839
NM_053025.4(MYLK):c.*1647G>C
NM_053025.4(MYLK):c.*1653G>A rs780658640
NM_053025.4(MYLK):c.*1809A>G rs6438804
NM_053025.4(MYLK):c.*197T>A rs116218482
NM_053025.4(MYLK):c.*213T>A rs115815057
NM_053025.4(MYLK):c.*246A>G rs886057855
NM_053025.4(MYLK):c.*334C>T
NM_053025.4(MYLK):c.*389G>C
NM_053025.4(MYLK):c.*404G>A
NM_053025.4(MYLK):c.*406G>C rs6438805
NM_053025.4(MYLK):c.*419C>T rs115932105
NM_053025.4(MYLK):c.*612C>A rs9422
NM_053025.4(MYLK):c.*712G>A rs886057849
NM_053025.4(MYLK):c.*802C>T rs886057847
NM_053025.4(MYLK):c.*945G>A rs112095273
NM_053025.4(MYLK):c.*95C>G rs560639262
NM_053025.4(MYLK):c.*960C>T rs886057844
NM_053025.4(MYLK):c.*981A>G
NM_053025.4(MYLK):c.-130A>C rs886057867
NM_053025.4(MYLK):c.-153C>T rs2700408
NM_053025.4(MYLK):c.-185-5A>G rs569756528
NM_053025.4(MYLK):c.-186+10C>A rs886057868
NM_053025.4(MYLK):c.-197T>C rs528654061
NM_053025.4(MYLK):c.-214C>A
NM_053025.4(MYLK):c.-228C>G rs886057869
NM_053025.4(MYLK):c.-229C>T
NM_053025.4(MYLK):c.-236C>A
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.-260C>A
NM_053025.4(MYLK):c.-277T>C rs886057870
NM_053025.4(MYLK):c.-279G>A
NM_053025.4(MYLK):c.-281G>A
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.-75A>G
NM_053025.4(MYLK):c.1003A>G (p.Thr335Ala) rs757891156
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu) rs760242263
NM_053025.4(MYLK):c.1023T>G (p.Thr341=)
NM_053025.4(MYLK):c.1027A>G (p.Ser343Gly)
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr)
NM_053025.4(MYLK):c.1103G>A (p.Gly368Glu)
NM_053025.4(MYLK):c.1113G>A (p.Arg371=) rs139391789
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) rs374894375
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) rs11920433
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.4(MYLK):c.1159C>A (p.Pro387Thr)
NM_053025.4(MYLK):c.1167G>A (p.Leu389=) rs377631029
NM_053025.4(MYLK):c.1179_1181TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538
NM_053025.4(MYLK):c.1205G>A (p.Arg402Lys)
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431
NM_053025.4(MYLK):c.1212C>T (p.Pro404=) rs765597431
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690
NM_053025.4(MYLK):c.1219G>A (p.Gly407Ser) rs199719143
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143
NM_053025.4(MYLK):c.1226G>A (p.Arg409Lys) rs776506361
NM_053025.4(MYLK):c.1253G>A (p.Ser418Asn)
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) rs377193216
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) rs779309547
NM_053025.4(MYLK):c.1289C>G (p.Thr430Ser) rs1386279142
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr)
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) rs766381045
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1356C>T (p.Thr452=) rs768697251
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568
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.1433G>A (p.Arg478Gln) rs775483725
NM_053025.4(MYLK):c.143C>G (p.Ala48Gly) rs1060502537
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser)
NM_053025.4(MYLK):c.1473C>T (p.Asn491=) rs138761352
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser)
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.1486C>G (p.Leu496Val) rs9833275
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) rs948829374
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) rs780888701
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.4(MYLK):c.1517-7C>T rs1295643109
NM_053025.4(MYLK):c.151A>G (p.Lys51Glu)
NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu)
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) rs150378280
NM_053025.4(MYLK):c.156C>T (p.Phe52=) rs200095645
NM_053025.4(MYLK):c.1585C>G (p.Gln529Glu)
NM_053025.4(MYLK):c.15G>T (p.Lys5Asn)
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414
NM_053025.4(MYLK):c.1613G>A (p.Arg538Gln) rs368509953
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417
NM_053025.4(MYLK):c.1651+1G>A rs1560135856
NM_053025.4(MYLK):c.1651+6T>A rs820329
NM_053025.4(MYLK):c.1651+7T>C rs758327487
NM_053025.4(MYLK):c.1652-4A>G rs1463457258
NM_053025.4(MYLK):c.1657C>T (p.Pro553Ser)
NM_053025.4(MYLK):c.1658C>T (p.Pro553Leu)
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys)
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) rs753464560
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys) rs765972446
NM_053025.4(MYLK):c.1689C>T (p.Ala563=) rs760193913
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) rs1275836800
NM_053025.4(MYLK):c.1693G>A (p.Val565Met) rs370052625
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814
NM_053025.4(MYLK):c.1785C>T (p.Ser595=) rs370094325
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543
NM_053025.4(MYLK):c.178C>G (p.Pro60Ala)
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile)
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.1802A>G (p.His601Arg)
NM_053025.4(MYLK):c.1804+8C>A rs820355
NM_053025.4(MYLK):c.1804+8C>T rs820355
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438
NM_053025.4(MYLK):c.1839G>T (p.Leu613=) rs771131171
NM_053025.4(MYLK):c.1853G>A (p.Ser618Asn)
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly) rs748628438
NM_053025.4(MYLK):c.1873T>C (p.Phe625Leu)
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) rs142765858
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1979G>A (p.Gly660Glu)
NM_053025.4(MYLK):c.1990C>T (p.Gln664Ter) rs1553809100
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu)
NM_053025.4(MYLK):c.1A>G (p.Met1Val)
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) rs1057524740
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.4(MYLK):c.2049G>A (p.Gln683=)
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg) rs144923036
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036
NM_053025.4(MYLK):c.2061G>A (p.Pro687=) rs539307414
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112
NM_053025.4(MYLK):c.2076G>A (p.Thr692=) rs147295583
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.4(MYLK):c.2085C>G (p.Cys695Trp) rs780052122
NM_053025.4(MYLK):c.2085C>T (p.Cys695=) rs780052122
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) rs779602599
NM_053025.4(MYLK):c.2093G>T (p.Trp698Leu)
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596
NM_053025.4(MYLK):c.2114G>A (p.Arg705His)
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) rs768134055
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.4(MYLK):c.2127G>A (p.Val709=) rs138575251
NM_053025.4(MYLK):c.2133G>A (p.Thr711=) rs150537500
NM_053025.4(MYLK):c.2140+6G>A rs374346618
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2165G>A (p.Trp722Ter) rs776115724
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845
NM_053025.4(MYLK):c.2188G>C (p.Val730Leu)
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.4(MYLK):c.225C>T (p.Ser75=) rs371699704
NM_053025.4(MYLK):c.2260T>C (p.Trp754Arg) rs774187263
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120
NM_053025.4(MYLK):c.2305G>A (p.Glu769Lys) rs201806277
NM_053025.4(MYLK):c.2328G>A (p.Val776=) rs1057524371
NM_053025.4(MYLK):c.2364T>C (p.His788=) rs113910371
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser)
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val)
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820
NM_053025.4(MYLK):c.2403C>T (p.Gly801=) rs752536081
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) rs1477764878
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp)
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) rs1060502538
NM_053025.4(MYLK):c.243G>A (p.Leu81=) rs1033918125
NM_053025.4(MYLK):c.2440A>G (p.Ser814Gly)
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) rs748575040
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422
NM_053025.4(MYLK):c.2462+5G>A rs374003770
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln)
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.2474C>T (p.Pro825Leu) rs201332554
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) rs370190691
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.24C>G (p.Ala8=) rs78118111
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg)
NM_053025.4(MYLK):c.2509G>C (p.Gly837Arg) rs1401139381
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly)
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.2571G>T (p.Gly857=) rs1296146069
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys) rs989370486
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) rs749162097
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys)
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.4(MYLK):c.2629G>T (p.Val877Leu)
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) rs1285946380
NM_053025.4(MYLK):c.2652G>A (p.Glu884=) rs1314650520
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763
NM_053025.4(MYLK):c.2732C>T (p.Ser911Leu) rs773956836
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) rs200117191
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.2740G>C (p.Asp914His)
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly) rs544456463
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.4(MYLK):c.2760C>G (p.Ala920=)
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318
NM_053025.4(MYLK):c.2777G>A (p.Arg926His) rs756465340
NM_053025.4(MYLK):c.2779G>A (p.Ala927Thr) rs886057862
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.4(MYLK):c.2804C>T (p.Pro935Leu) rs1359230351
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) rs886057861
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn)
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) rs749847711
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser) rs201266960
NM_053025.4(MYLK):c.2898C>T (p.Pro966=) rs753785049
NM_053025.4(MYLK):c.2899G>A (p.Val967Met)
NM_053025.4(MYLK):c.2911G>A (p.Val971Met) rs1199429329
NM_053025.4(MYLK):c.2918C>T (p.Pro973Leu) rs760450984
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu)
NM_053025.4(MYLK):c.2974C>T (p.Pro992Ser)
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110
NM_053025.4(MYLK):c.2987G>A (p.Gly996Asp)
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) rs1060502535
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) rs141546581
NM_053025.4(MYLK):c.3022G>A (p.Val1008Met)
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala) rs200041144
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) rs778578954
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.3112A>G (p.Met1038Val) rs763247566
NM_053025.4(MYLK):c.3120C>T (p.Asn1040=) rs759475810
NM_053025.4(MYLK):c.3120_3155del (p.1032_1043AETLKPMGNAKP[1]) rs779483683
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) rs568590920
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) rs777200220
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1])
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=) rs58176285
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) rs773540567
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) rs748997552
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) rs370194660
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472
NM_053025.4(MYLK):c.3210C>T (p.Asp1070=) rs200758888
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.4(MYLK):c.3247G>A (p.Gly1083Arg)
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) rs1553803235
NM_053025.4(MYLK):c.3316G>C (p.Asp1106His)
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro) rs1576620071
NM_053025.4(MYLK):c.3351C>A (p.Leu1117=) rs1240784181
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740
NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met)
NM_053025.4(MYLK):c.3397C>T (p.Leu1133=) rs1060504649
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) rs1560092388
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) rs768346816
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) rs201251944
NM_053025.4(MYLK):c.3495A>G (p.Arg1165=) rs142345443
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) rs758839208
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe) rs372251565
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.4(MYLK):c.3565+3_3565+6del rs1576580586
NM_053025.4(MYLK):c.3565+8G>A rs368902808
NM_053025.4(MYLK):c.3566A>G (p.Asp1189Gly)
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) rs759317891
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe)
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=) rs780768361
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.3639G>A (p.Val1213=) rs148419939
NM_053025.4(MYLK):c.3652+11G>A rs41271437
NM_053025.4(MYLK):c.3652_3652+1del rs1553795301
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) rs370872760
NM_053025.4(MYLK):c.3660G>A (p.Ala1220=) rs765219262
NM_053025.4(MYLK):c.3681C>T (p.Ala1227=) rs201663473
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala)
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=) rs769086535
NM_053025.4(MYLK):c.369A>T (p.Val123=) rs746517311
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) rs563569935
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.4(MYLK):c.3715del (p.Gln1239fs)
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp) rs1056087101
NM_053025.4(MYLK):c.373+6T>A
NM_053025.4(MYLK):c.374-9T>C rs376695367
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys)
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) rs201873975
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) rs1553788596
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) rs1382893400
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) rs564792567
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022
NM_053025.4(MYLK):c.3831+10G>A rs763161470
NM_053025.4(MYLK):c.3832-2A>G
NM_053025.4(MYLK):c.3832-6C>T rs185681684
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) rs956816227
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) rs766866941
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser) rs1576474081
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) rs201265306
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325
NM_053025.4(MYLK):c.3902G>A (p.Arg1301His)
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) rs755117377
NM_053025.4(MYLK):c.3933G>A (p.Leu1311=)
NM_053025.4(MYLK):c.3969C>T (p.Val1323=) rs192100022
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) rs373556266
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.4001dup (p.Ala1335fs) rs1553785222
NM_053025.4(MYLK):c.400C>G (p.Pro134Ala)
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) rs55669734
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) rs749921840
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) rs141271656
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) rs774223564
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) rs886057859
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607
NM_053025.4(MYLK):c.4119A>G (p.Ser1373=) rs758896854
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=) rs756697460
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys)
NM_053025.4(MYLK):c.4170C>T (p.Asn1390=) rs545959628
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) rs748559781
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His) rs1286895921
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) rs755248772
NM_053025.4(MYLK):c.422+14G>C rs146112057
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=) rs780641277
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.423-8C>G rs751696363
NM_053025.4(MYLK):c.423-8C>T rs751696363
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) rs758305428
NM_053025.4(MYLK):c.4269G>A (p.Thr1423=) rs574785619
NM_053025.4(MYLK):c.4289-10_4289-9dup rs41431347
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-3del rs41431347
NM_053025.4(MYLK):c.4289-4C>G rs376670657
NM_053025.4(MYLK):c.4289-4C>T rs376670657
NM_053025.4(MYLK):c.4289-6C>A rs200774169
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686
NM_053025.4(MYLK):c.429A>G (p.Arg143=) rs149940930
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly)
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.4(MYLK):c.4335C>T (p.Pro1445=) rs756038706
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile)
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) rs1553781304
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) rs565217509
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr) rs766722671
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys)
NM_053025.4(MYLK):c.4415+1G>A rs1430822242
NM_053025.4(MYLK):c.4415+9A>G rs187964526
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) rs886229659
NM_053025.4(MYLK):c.4460G>A (p.Arg1487Gln) rs369356239
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) rs1576422965
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) rs1060502531
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352
NM_053025.4(MYLK):c.4567C>A (p.Gln1523Lys) rs1576422561
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile) rs776503378
NM_053025.4(MYLK):c.4619+2T>G rs1553780501
NM_053025.4(MYLK):c.4620-12G>A rs41301337
NM_053025.4(MYLK):c.4620-4G>A rs371533014
NM_053025.4(MYLK):c.4620-5C>T rs760680632
NM_053025.4(MYLK):c.4620-6C>T rs113607507
NM_053025.4(MYLK):c.463A>C (p.Ile155Leu) rs368775754
NM_053025.4(MYLK):c.463A>G (p.Ile155Val) rs368775754
NM_053025.4(MYLK):c.465C>A (p.Ile155=) rs199517273
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln) rs1114167363
NM_053025.4(MYLK):c.468G>A (p.Trp156Ter) rs1560156324
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu) rs1060502534
NM_053025.4(MYLK):c.4715G>C (p.Gly1572Ala)
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) rs1399378417
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) rs755510742
NM_053025.4(MYLK):c.4748A>G (p.His1583Arg) rs1553778145
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) rs370158852
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) rs1576401641
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.4(MYLK):c.4791G>A (p.Thr1597=) rs775517621
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.4(MYLK):c.47C>T (p.Ser16Phe)
NM_053025.4(MYLK):c.4800G>A (p.Arg1600=) rs111901174
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) rs1060502536
NM_053025.4(MYLK):c.4837+3A>G
NM_053025.4(MYLK):c.4838-3C>T rs776825316
NM_053025.4(MYLK):c.4838-7G>A rs377561378
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666
NM_053025.4(MYLK):c.4908G>A (p.Glu1636=) rs1553777406
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) rs752526557
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692
NM_053025.4(MYLK):c.4941C>T (p.Ile1647=) rs200291268
NM_053025.4(MYLK):c.4992C>A (p.Asp1664Glu) rs1553774803
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly) rs1361739212
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe) rs1048197599
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.4(MYLK):c.5003_5017dup (p.Glu1668_Asn1672dup) rs1553774774
NM_053025.4(MYLK):c.5019T>C (p.Val1673=) rs1553774768
NM_053025.4(MYLK):c.5041G>T (p.Asp1681Tyr) rs150392984
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn)
NM_053025.4(MYLK):c.5055C>T (p.Phe1685=) rs148364244
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_053025.4(MYLK):c.5067C>T (p.Ser1689=) rs368571172
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln) rs758521431
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675
NM_053025.4(MYLK):c.509T>C (p.Val170Ala) rs752679720
NM_053025.4(MYLK):c.5114+7A>G rs1553774672
NM_053025.4(MYLK):c.5114+8G>A rs202229368
NM_053025.4(MYLK):c.5119C>T (p.Arg1707Cys) rs1060502530
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) rs1328179065
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) rs374662467
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) rs140870383
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) rs761266023
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) rs1337673131
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616
NM_053025.4(MYLK):c.5369-10T>G rs373584324
NM_053025.4(MYLK):c.536G>A (p.Arg179Gln)
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) rs746213310
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)
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys) rs369511530
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn)
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) rs1302244958
NM_053025.4(MYLK):c.5489G>C (p.Cys1830Ser) rs1302244958
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) rs147536036
NM_053025.4(MYLK):c.5541_5544del (p.Ile1849fs)
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) rs1057518439
NM_053025.4(MYLK):c.5586C>T (p.Asp1862=) rs563208285
NM_053025.4(MYLK):c.5587G>A (p.Gly1863Arg) rs1559957355
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) rs762477499
NM_053025.4(MYLK):c.5616T>G (p.Val1872=) rs777340868
NM_053025.4(MYLK):c.5631T>C (p.Asp1877=) rs772417046
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile)
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) rs1560155884
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) rs199736263
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) rs200490629
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880
NM_053025.4(MYLK):c.5727_5732GGAAGA[3] (p.Glu1913_Glu1914dup) rs1576282420
NM_053025.4(MYLK):c.5736A>G (p.Glu1912=) rs112548238
NM_053025.4(MYLK):c.5741A>G (p.Glu1914Gly)
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) rs772426809
NM_053025.4(MYLK):c.609G>A (p.Pro203=) rs748312013
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) rs878855176
NM_053025.4(MYLK):c.617G>T (p.Arg206Leu) rs367649461
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) rs1553824777
NM_053025.4(MYLK):c.652C>T (p.Leu218=) rs113035707
NM_053025.4(MYLK):c.672C>T (p.Asn224=) rs941148082
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu) rs775485777
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214
NM_053025.4(MYLK):c.706G>A (p.Val236Met)
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser) rs1576794625
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg)
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu) rs137982786
NM_053025.4(MYLK):c.717G>A (p.Ser239=) rs146960026
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) rs202126043
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu)
NM_053025.4(MYLK):c.739del (p.Glu247fs)
NM_053025.4(MYLK):c.755-12C>T rs138877679
NM_053025.4(MYLK):c.755-4C>G rs1249330032
NM_053025.4(MYLK):c.771T>C (p.Asn257=) rs369494886
NM_053025.4(MYLK):c.774-18A>C rs761133062
NM_053025.4(MYLK):c.774-3C>T rs1576782513
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013
NM_053025.4(MYLK):c.835A>G (p.Ile279Val)
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) rs1560148831
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu) rs150096018
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) rs886057865
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys) rs545515041
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041
NM_053025.4(MYLK):c.963G>A (p.Lys321=) rs1052922812
NM_053025.4(MYLK):c.96C>T (p.Ala32=) rs775979851
NM_053025.4(MYLK):c.983C>T (p.Ser328Leu)
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449
NM_053025.4(MYLK):c.985C>G (p.Pro329Ala)
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu)
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347

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