ClinVar Miner

List of variants in gene MYLK reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 411
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HGVS dbSNP
NC_000003.11:g.(?_123401051)_(123401177_?)del
NM_053025.3(MYLK):c.3651_3652delGA (p.Ser1218Terfs) rs1553795301
NM_053025.3(MYLK):c.4289-3delC rs41431347
NM_053025.3(MYLK):c.4289-4_4289-3dup rs41431347
NM_053025.3(MYLK):c.588+13_588+16delTCTG rs570821069
NM_053025.4(MYLK):c.*1031C>A rs886057843
NM_053025.4(MYLK):c.*1041G>T rs886057842
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.*1191T>C rs756047939
NM_053025.4(MYLK):c.*1210T>C rs886057841
NM_053025.4(MYLK):c.*1254_*1255GT[4] rs550448371
NM_053025.4(MYLK):c.*1302T>C rs113046889
NM_053025.4(MYLK):c.*1526C>A rs886057840
NM_053025.4(MYLK):c.*1576G>A rs769291281
NM_053025.4(MYLK):c.*1630G>A rs886057839
NM_053025.4(MYLK):c.*1653G>A rs780658640
NM_053025.4(MYLK):c.*165del rs886057856
NM_053025.4(MYLK):c.*1671A>T rs886057838
NM_053025.4(MYLK):c.*246A>G rs886057855
NM_053025.4(MYLK):c.*252T>C rs886057854
NM_053025.4(MYLK):c.*258G>T rs886057853
NM_053025.4(MYLK):c.*334_*335insAAATGC rs886057852
NM_053025.4(MYLK):c.*416dup rs886057851
NM_053025.4(MYLK):c.*524C>A rs886057850
NM_053025.4(MYLK):c.*712G>A rs886057849
NM_053025.4(MYLK):c.*713C>A rs886057848
NM_053025.4(MYLK):c.*76_*77insAC rs879035240
NM_053025.4(MYLK):c.*76dup rs35930843
NM_053025.4(MYLK):c.*77dup rs886057857
NM_053025.4(MYLK):c.*802C>T rs886057847
NM_053025.4(MYLK):c.*812C>A rs886057846
NM_053025.4(MYLK):c.*857_*860dup rs886057845
NM_053025.4(MYLK):c.*95C>G rs560639262
NM_053025.4(MYLK):c.*960C>T rs886057844
NM_053025.4(MYLK):c.-130A>C rs886057867
NM_053025.4(MYLK):c.-185-5A>G rs569756528
NM_053025.4(MYLK):c.-186+10C>A rs886057868
NM_053025.4(MYLK):c.-228C>G rs886057869
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.-277T>C rs886057870
NM_053025.4(MYLK):c.-4G>A rs989215521
NM_053025.4(MYLK):c.1003A>G (p.Thr335Ala) rs757891156
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu)
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) rs202225055
NM_053025.4(MYLK):c.1120C>T (p.Pro374Ser) rs1553822427
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr)
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu) rs193921083
NM_053025.4(MYLK):c.1170G>C (p.Gly390=) rs1553822363
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538
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)
NM_053025.4(MYLK):c.123C>A (p.Asn41Lys) rs886057866
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.1330G>A (p.Glu444Lys) rs766381045
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806
NM_053025.4(MYLK):c.1340G>C (p.Trp447Ser) rs886043581
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) rs147311651
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.1413C>G (p.Tyr471Ter) rs751748077
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.1474G>A (p.Ala492Thr) rs143010767
NM_053025.4(MYLK):c.1480G>C (p.Gly494Arg) rs1002989047
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala)
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) rs886039189
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) rs369576521
NM_053025.4(MYLK):c.1509A>G (p.Gln503=)
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) rs780888701
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) rs150378280
NM_053025.4(MYLK):c.159dup (p.Gly54fs) rs1553850067
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.161G>A (p.Gly54Glu) rs767453947
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417
NM_053025.4(MYLK):c.1640G>A (p.Trp547Ter) rs779212460
NM_053025.4(MYLK):c.164G>A (p.Arg55Gln) rs768984022
NM_053025.4(MYLK):c.1651+1G>A rs1560135856
NM_053025.4(MYLK):c.1651+7T>C rs758327487
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) rs143403855
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) rs753464560
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys)
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser)
NM_053025.4(MYLK):c.1693G>A (p.Val565Met)
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.1775T>C (p.Val592Ala) rs374420141
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543
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.1807A>G (p.Lys603Glu) rs751023438
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly)
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023
NM_053025.4(MYLK):c.1952C>T (p.Pro651Leu) rs555029377
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127
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.1990C>T (p.Gln664Ter) rs1553809100
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
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.2060C>G (p.Pro687Arg)
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112
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=)
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg)
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504
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.2132C>T (p.Thr711Met) rs531232445
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)
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.2253C>T (p.Thr751=) rs138777049
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.2291A>G (p.Asp764Gly) rs763243524
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
NM_053025.4(MYLK):c.2305G>A (p.Glu769Lys)
NM_053025.4(MYLK):c.2326G>A (p.Val776Met) rs372707781
NM_053025.4(MYLK):c.2396G>A (p.Arg799Gln) rs1435664878
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820
NM_053025.4(MYLK):c.2403C>T (p.Gly801=)
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) rs1477764878
NM_053025.4(MYLK):c.2407T>C (p.Cys803Arg) rs1373697705
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) rs1553805024
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) rs1060502538
NM_053025.4(MYLK):c.243G>A (p.Leu81=)
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.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.2481C>G (p.Ser827Arg) rs1131691270
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.2509G>C (p.Gly837Arg) rs1401139381
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.2571G>T (p.Gly857=)
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2584G>C (p.Glu862Gln) rs770667051
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) rs587782966
NM_053025.4(MYLK):c.2598C>T (p.Gly866=) rs144654396
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys)
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) rs749162097
NM_053025.4(MYLK):c.2626C>A (p.Arg876Ser) rs369503342
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser)
NM_053025.4(MYLK):c.2643G>A (p.Gln881=) rs765727285
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr) rs561148360
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly)
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318
NM_053025.4(MYLK):c.2777G>A (p.Arg926His)
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.2791_2792delinsAT (p.Arg931Met) rs1553803967
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.2860C>T (p.Arg954Cys) rs749847711
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) rs756451726
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser)
NM_053025.4(MYLK):c.290A>C (p.His97Pro) rs756800370
NM_053025.4(MYLK):c.2911G>A (p.Val971Met)
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.4(MYLK):c.2921C>G (p.Pro974Arg) rs1553803753
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) rs1553803719
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) rs1060502535
NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val) rs1382043515
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
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.3052C>T (p.Gln1018Ter) rs377568543
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala) rs200041144
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])
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val)
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.3133G>A (p.Glu1045Lys)
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr)
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.3193G>C (p.Glu1065Gln) rs1064797009
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) rs1553803235
NM_053025.4(MYLK):c.3273_3274AG[2] (p.Ser1093fs) rs1553803217
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro)
NM_053025.4(MYLK):c.3380_3382delinsGCC (p.Ala1127_Thr1128delinsGlyPro) rs886043880
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) rs1560092388
NM_053025.4(MYLK):c.3448+15G>A rs199789942
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) rs201251944
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys) rs867887039
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val) rs1222534732
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.3565+3_3565+6del
NM_053025.4(MYLK):c.3565+7C>T rs768638357
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg)
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.3615G>T (p.Arg1205Ser) rs1026157995
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) rs1406608470
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) rs370872760
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp)
NM_053025.4(MYLK):c.374-3C>A rs1473632768
NM_053025.4(MYLK):c.374-9T>C rs376695367
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477
NM_053025.4(MYLK):c.3755G>A (p.Gly1252Glu) rs886039046
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) rs1553788596
NM_053025.4(MYLK):c.3805T>C (p.Cys1269Arg) rs750286831
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) rs564792567
NM_053025.4(MYLK):c.3831+5G>A rs1198605932
NM_053025.4(MYLK):c.3832-6C>T rs185681684
NM_053025.4(MYLK):c.3832-8G>C
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) rs956816227
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) rs766866941
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser)
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
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.3910C>A (p.His1304Asn) rs758161864
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.3982G>A (p.Val1328Met) rs730880164
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) rs749921840
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp)
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.4058_4060del (p.Tyr1353_Gly1354delinsCys) rs1560027806
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp) rs587782967
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.4110C>G (p.Ile1370Met) rs199971683
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) rs762795374
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) rs748559781
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His)
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys)
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.423-8C>G
NM_053025.4(MYLK):c.423-8C>T rs751696363
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) rs758305428
NM_053025.4(MYLK):c.4289-13del rs779252356
NM_053025.4(MYLK):c.4289-4C>T rs376670657
NM_053025.4(MYLK):c.4289-6C>A rs200774169
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) rs757392371
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617
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.4397T>C (p.Ile1466Thr) rs766722671
NM_053025.4(MYLK):c.4415+9A>G rs187964526
NM_053025.4(MYLK):c.4425T>G (p.Phe1475Leu) rs1064797297
NM_053025.4(MYLK):c.4460G>A (p.Arg1487Gln)
NM_053025.4(MYLK):c.4520G>A (p.Arg1507Gln) rs574296889
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr) rs1560012143
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)
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile)
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.4645C>T (p.Arg1549Cys) rs886039186
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.4725C>T (p.Tyr1575=) rs374665486
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) rs1399378417
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.4790C>T (p.Thr1597Met) rs763260112
NM_053025.4(MYLK):c.4805A>G (p.Lys1602Arg) rs730880165
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) rs1060502536
NM_053025.4(MYLK):c.4838-3C>T rs776825316
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666
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.4916G>C (p.Gly1639Ala) rs752526557
NM_053025.4(MYLK):c.4992C>A (p.Asp1664Glu) rs1553774803
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe)
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.5041G>T (p.Asp1681Tyr)
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln)
NM_053025.4(MYLK):c.5114+7A>G rs1553774672
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.5132C>G (p.Thr1711Arg) rs374662467
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) rs761266023
NM_053025.4(MYLK):c.5224A>G (p.Arg1742Gly) rs886057858
NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro) rs1226517649
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836
NM_053025.4(MYLK):c.5253T>C (p.Ala1751=) rs1475852496
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr) rs759291796
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) rs1337673131
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926
NM_053025.4(MYLK):c.5369-10T>G rs373584324
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)
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) rs777616795
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.5435C>T (p.Ser1812Phe) rs1007504430
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958
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.5501-3C>T rs747326867
NM_053025.4(MYLK):c.5510A>C (p.Asp1837Ala) rs918643720
NM_053025.4(MYLK):c.5529C>A (p.Phe1843Leu) rs1559957766
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.559C>T (p.Arg187Trp) rs372482276
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) rs762477499
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) rs1560155884
NM_053025.4(MYLK):c.5695G>A (p.Val1899Met) rs1553768575
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) rs199736263
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile) rs1194619668
NM_053025.4(MYLK):c.570G>T (p.Pro190=) rs56377408
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880
NM_053025.4(MYLK):c.5727_5732GGAAGA[3] (p.Glu1913_Glu1914dup)
NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp) rs1553768506
NM_053025.4(MYLK):c.588+10C>T rs886038709
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.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.643A>G (p.Met215Val) rs754479443
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) rs1553824777
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu)
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser)
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) rs202126043
NM_053025.4(MYLK):c.774-15C>G rs371552521
NM_053025.4(MYLK):c.774-3C>T
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser)
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) rs746464484
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) rs1560148831
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu)
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) rs886057865
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys)
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041
NM_053025.4(MYLK):c.969G>A (p.Glu323=) rs368095613
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347

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