ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 725
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HGVS dbSNP gnomAD frequency
NM_005159.4(ACTC1):c.*1039G>A rs589759 0.70946
NM_005159.5(ACTC1):c.454+245G>A rs2070664 0.62309
NM_005159.4(ACTC1):c.*1682A>G rs533021 0.55143
NM_005159.4(ACTC1):c.*2090A>G rs604689 0.46654
NM_005159.4(ACTC1):c.*1445C>G rs8037241 0.20984
NM_005159.5(ACTC1):c.809-304G>A rs62006139 0.17260
NM_005159.4(ACTC1):c.*918delA rs34323254 0.13239
NM_005159.4(ACTC1):c.*472T>C rs1370155 0.12694
NM_005159.5(ACTC1):c.130-127G>C rs7165006 0.12411
NM_005159.5(ACTC1):c.129+319T>G rs77247635 0.11673
NM_005159.5(ACTC1):c.-57T>C rs113178069 0.10580
NM_005159.4(ACTC1):c.*1674C>T rs112660730 0.04304
NM_005159.5(ACTC1):c.129+118G>A rs78848103 0.03440
NM_005159.5(ACTC1):c.-22-212A>T rs115016806 0.02956
NM_005159.5(ACTC1):c.808+169G>A rs3729756 0.02843
NM_005159.5(ACTC1):c.809-67G>A rs115415793 0.02561
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.5(ACTC1):c.455-243A>T rs76891510 0.02432
NM_005159.5(ACTC1):c.990+236C>T rs73387696 0.02244
NM_005159.4(ACTC1):c.*868T>G rs80139141 0.01974
NM_005159.5(ACTC1):c.808+185A>G rs3729757 0.01841
NM_005159.4(ACTC1):c.*269C>T rs74009720 0.01739
NM_005159.5(ACTC1):c.-22-312G>T rs80085137 0.01679
NM_005159.5(ACTC1):c.991-262C>T rs116419104 0.01331
NM_005159.4(ACTC1):c.*781G>A rs145085048 0.01199
NM_005159.5(ACTC1):c.129+32C>A rs76013827 0.01002
NM_005159.4(ACTC1):c.*846G>A rs78596978 0.00833
NM_005159.5(ACTC1):c.455-48G>C rs78697034 0.00832
NM_005159.4(ACTC1):c.*856G>A rs79104010 0.00827
NM_005159.5(ACTC1):c.990+64C>T rs2307494 0.00741
NM_005159.5(ACTC1):c.-50G>A rs139691739 0.00724
NM_005159.4(ACTC1):c.*1004A>G rs116034611 0.00698
NM_005159.4(ACTC1):c.*688T>G rs116184851 0.00680
NM_005159.5(ACTC1):c.129+219_129+224del rs527292617 0.00502
NM_005159.4(ACTC1):c.*518A>G rs115295911 0.00500
NM_005159.4(ACTC1):c.*757G>A rs78727649 0.00452
NM_005159.5(ACTC1):c.*22C>T rs28730667 0.00412
NM_005159.4(ACTC1):c.*1219C>T rs139559367 0.00297
NM_005159.4(ACTC1):c.*1513T>C rs113063427 0.00287
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.5(ACTC1):c.-23+15G>T rs566201991 0.00242
NM_005159.4(ACTC1):c.*1893C>T rs185151197 0.00182
NM_005159.4(ACTC1):c.*1919G>A rs557782296 0.00095
NM_005159.4(ACTC1):c.*742C>G rs746732857 0.00056
NM_005159.4(ACTC1):c.*1303C>G rs764944789 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_005159.4(ACTC1):c.*1800C>T rs981648501 0.00028
NM_005159.4(ACTC1):c.*484C>T rs563713498 0.00024
NM_005159.5(ACTC1):c.*40G>A rs377546862 0.00022
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.4(ACTC1):c.-228C>A rs370499568 0.00021
NM_005159.4(ACTC1):c.*1471G>A rs886051067 0.00019
NM_005159.4(ACTC1):c.*737C>T rs868013105 0.00017
NM_005159.5(ACTC1):c.141G>T (p.Val47=) rs1409682416 0.00016
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005159.4(ACTC1):c.*2275C>T rs140004011 0.00013
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005159.4(ACTC1):c.*1749C>T rs920001464 0.00011
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796 0.00010
NM_005159.5(ACTC1):c.246C>T (p.Asp82=) rs373261583 0.00009
NM_005159.5(ACTC1):c.455-7C>T rs768363857 0.00009
NM_005159.4(ACTC1):c.*1133G>T rs750686235 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005159.5(ACTC1):c.*16C>T rs201258118 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.717G>A (p.Glu239=) rs369019849 0.00006
NM_005159.4(ACTC1):c.*1802C>T rs563318028 0.00005
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_005159.4(ACTC1):c.*1810C>T rs957061913 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_005159.5(ACTC1):c.652C>T (p.Leu218=) rs760269526 0.00004
NC_000015.10:g.34790111C>T rs901415027 0.00003
NM_005159.4(ACTC1):c.*1987G>A rs886051062 0.00003
NM_005159.4(ACTC1):c.*756C>T rs887032485 0.00003
NM_005159.5(ACTC1):c.*116G>A rs553652706 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.399C>T (p.Ala133=) rs764630691 0.00003
NM_005159.5(ACTC1):c.498C>T (p.Pro166=) rs370082904 0.00003
NM_005159.5(ACTC1):c.51G>A (p.Gly17=) rs993704001 0.00003
NM_005159.5(ACTC1):c.616+6T>C rs574862389 0.00003
NM_005159.5(ACTC1):c.809-14T>A rs1157097825 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005159.4(ACTC1):c.*584T>G rs999688273 0.00002
NM_005159.4(ACTC1):c.*927G>A rs934568426 0.00002
NM_005159.5(ACTC1):c.*5C>G rs756594449 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.5(ACTC1):c.180C>T (p.Ala60=) rs370322510 0.00002
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser) rs746748461 0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965 0.00002
NM_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260 0.00002
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=) rs181479041 0.00002
NM_005159.5(ACTC1):c.455-18G>A rs925035661 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_005159.5(ACTC1):c.617-10A>G rs751985418 0.00002
NM_005159.5(ACTC1):c.809-11C>A rs1175630739 0.00002
NM_005159.5(ACTC1):c.809-8G>A rs767180775 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005159.5(ACTC1):c.991-13T>C rs1375741970 0.00002
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.*2188T>C rs966275735 0.00001
NM_005159.4(ACTC1):c.*2206C>G rs886051060 0.00001
NM_005159.4(ACTC1):c.*2261A>G rs1482705391 0.00001
NM_005159.4(ACTC1):c.*590A>G rs942901934 0.00001
NM_005159.4(ACTC1):c.*679C>G rs886051078 0.00001
NM_005159.4(ACTC1):c.*865T>C rs886051073 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_005159.4(ACTC1):c.-192A>G rs1713628654 0.00001
NM_005159.5(ACTC1):c.*20T>A rs143407466 0.00001
NM_005159.5(ACTC1):c.-12A>G rs372036883 0.00001
NM_005159.5(ACTC1):c.-17C>G rs1411090601 0.00001
NM_005159.5(ACTC1):c.-44G>A rs909469426 0.00001
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=) rs1430980455 0.00001
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=) rs1461497941 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.108C>T (p.Ile36=) rs1457769757 0.00001
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=) rs758173419 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.117C>T (p.Arg39=) rs751851323 0.00001
NM_005159.5(ACTC1):c.120G>A (p.Pro40=) rs766934253 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.12C>T (p.Asp4=) rs768526036 0.00001
NM_005159.5(ACTC1):c.130-3T>C rs745838366 0.00001
NM_005159.5(ACTC1):c.130-4A>T rs772110994 0.00001
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val) rs397517056 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys) rs759495229 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu) rs1405829098 0.00001
NM_005159.5(ACTC1):c.318G>A (p.Leu106=) rs1335305223 0.00001
NM_005159.5(ACTC1):c.352C>A (p.Arg118=) rs1159252460 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.423G>A (p.Val141=) rs922191208 0.00001
NM_005159.5(ACTC1):c.432G>T (p.Leu144=) rs1595761302 0.00001
NM_005159.5(ACTC1):c.441T>C (p.Ser147=) rs1199593688 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.454+5G>C rs756249146 0.00001
NM_005159.5(ACTC1):c.455-14A>G rs902599585 0.00001
NM_005159.5(ACTC1):c.455-4G>A rs746508669 0.00001
NM_005159.5(ACTC1):c.455-6G>A rs1359050330 0.00001
NM_005159.5(ACTC1):c.455-9C>T rs1891726942 0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr) rs1469206760 0.00001
NM_005159.5(ACTC1):c.609C>T (p.Val203=) rs1055408313 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.633C>T (p.Val211=) rs199947846 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.747C>T (p.Val249=) rs1470571495 0.00001
NM_005159.5(ACTC1):c.756T>C (p.Ile252=) rs371940910 0.00001
NM_005159.5(ACTC1):c.792C>T (p.Phe264=) rs769158928 0.00001
NM_005159.5(ACTC1):c.809-9C>T rs752499457 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NM_005159.5(ACTC1):c.942T>C (p.Arg314=) rs778914066 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val) rs749354463 0.00001
NC_000015.10:g.34790188C>T rs551820554
NC_000015.9:g.(?_35082593)_(35087029_?)dup
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1221A>T rs886051068
NM_005159.4(ACTC1):c.*1230C>T rs1891645041
NM_005159.4(ACTC1):c.*1262G>C rs189725849
NM_005159.4(ACTC1):c.*1378C>T rs1891640803
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1624G>T rs1891635659
NM_005159.4(ACTC1):c.*1732G>C rs750495564
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1774G>A rs756269270
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2053G>T rs79955486
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*2179T>C rs1595758879
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*2292C>T rs886051059
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.4(ACTC1):c.*393G>T rs886051085
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*619A>T rs886051082
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*752C>A rs969975000
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*777C>T rs886051074
NM_005159.4(ACTC1):c.*875G>C rs73387693
NM_005159.4(ACTC1):c.*922G>T
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.4(ACTC1):c.-79G>A rs886051094
NM_005159.5(ACTC1):c.*137A>T rs149031785
NM_005159.5(ACTC1):c.*1G>A
NM_005159.5(ACTC1):c.*1G>T rs1226132498
NM_005159.5(ACTC1):c.*35A>T rs748053539
NM_005159.5(ACTC1):c.*3T>C rs727504415
NM_005159.5(ACTC1):c.-14G>C rs2140433368
NM_005159.5(ACTC1):c.-1G>A rs748380799
NM_005159.5(ACTC1):c.-23+138_-23+139dup rs3059225
NM_005159.5(ACTC1):c.-23+138dup rs3059225
NM_005159.5(ACTC1):c.-23+154del rs3059225
NM_005159.5(ACTC1):c.-36CCGCC[3] rs1064795891
NM_005159.5(ACTC1):c.-38A>C rs1891811169
NM_005159.5(ACTC1):c.-3A>T
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=) rs1179163467
NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln) rs1373760624
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg) rs1373760624
NM_005159.5(ACTC1):c.101C>T (p.Pro34Leu) rs1373760624
NM_005159.5(ACTC1):c.1021G>C (p.Val341Leu) rs2140429056
NM_005159.5(ACTC1):c.1029del (p.Ile343fs) rs2140429044
NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)
NM_005159.5(ACTC1):c.1034del (p.Gly345fs) rs2140429038
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val) rs727505192
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala) rs1595761987
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1050T>C (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=) rs1595759957
NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg) rs2140428997
NM_005159.5(ACTC1):c.1068A>G (p.Gln356=) rs2140428994
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)
NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly) rs1891681614
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu) rs1595759946
NM_005159.5(ACTC1):c.1083G>A (p.Lys361=) rs754736799
NM_005159.5(ACTC1):c.1083G>T (p.Lys361Asn) rs754736799
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter) rs876657738
NM_005159.5(ACTC1):c.1086_1088dup (p.Glu363dup) rs2140428968
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) rs121912674
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn) rs1555418631
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn) rs2140428952
NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr) rs2140428952
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly) rs2140428937
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
NM_005159.5(ACTC1):c.1111A>G (p.Ile371Val)
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1119C>T (p.His373=) rs1208061059
NM_005159.5(ACTC1):c.1120C>T (p.Arg374Cys)
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=) rs1891679853
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val) rs2140428902
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
NM_005159.5(ACTC1):c.120G>C (p.Pro40=) rs766934253
NM_005159.5(ACTC1):c.121C>A (p.Arg41=)
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr) rs2140433161
NM_005159.5(ACTC1):c.129+10C>T
NM_005159.5(ACTC1):c.129+11C>T
NM_005159.5(ACTC1):c.129+12_129+13delinsCT rs1555418997
NM_005159.5(ACTC1):c.129+14C>G
NM_005159.5(ACTC1):c.129+15G>A
NM_005159.5(ACTC1):c.129+17G>T
NM_005159.5(ACTC1):c.129+17del rs730880386
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+23del rs148433308
NM_005159.5(ACTC1):c.129+3A>G rs763452221
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.129+8T>A
NM_005159.5(ACTC1):c.129+8T>C rs2140433148
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) rs768526036
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.130-13T>A rs1891753477
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-17A>C rs1057523026
NM_005159.5(ACTC1):c.130-18C>A
NM_005159.5(ACTC1):c.130-5C>T
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala) rs1555418924
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.150T>C (p.Gly50=)
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)
NM_005159.5(ACTC1):c.158A>T (p.Asp53Val) rs1555418919
NM_005159.5(ACTC1):c.161C>T (p.Ser54Phe) rs730880391
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile) rs944740404
NM_005159.5(ACTC1):c.166G>C (p.Val56Leu) rs944740404
NM_005159.5(ACTC1):c.177A>G (p.Glu59=) rs755858258
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) rs1555418912
NM_005159.5(ACTC1):c.180C>A (p.Ala60=) rs370322510
NM_005159.5(ACTC1):c.186del (p.Ser62fs) rs876657739
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.189G>C (p.Lys63Asn)
NM_005159.5(ACTC1):c.18G>A (p.Glu6=) rs1891783715
NM_005159.5(ACTC1):c.18G>T (p.Glu6Asp)
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
NM_005159.5(ACTC1):c.198C>G (p.Ile66Met)
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
NM_005159.5(ACTC1):c.1A>T (p.Met1Leu)
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
NM_005159.5(ACTC1):c.204C>T (p.Thr68=) rs1891751214
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
NM_005159.5(ACTC1):c.214C>T (p.Pro72Ser) rs2140432138
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) rs387906585
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
NM_005159.5(ACTC1):c.225T>C (p.His75=)
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.231C>T (p.Ile77=)
NM_005159.5(ACTC1):c.234C>T (p.Ile78=) rs1393400015
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
NM_005159.5(ACTC1):c.246C>A (p.Asp82Glu)
NM_005159.5(ACTC1):c.24C>A (p.Thr8=)
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
NM_005159.5(ACTC1):c.258G>A (p.Lys86=)
NM_005159.5(ACTC1):c.267C>T (p.His89=)
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn) rs730880037
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys) rs1595761404
NM_005159.5(ACTC1):c.27C>T (p.Ala9=) rs1595762043
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.285G>A (p.Glu95=) rs1211913373
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)
NM_005159.5(ACTC1):c.290G>A (p.Arg97His)
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) rs1555418891
NM_005159.5(ACTC1):c.294G>T (p.Val98=) rs397517058
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)
NM_005159.5(ACTC1):c.299C>T (p.Pro100Leu) rs876661195
NM_005159.5(ACTC1):c.2T>C (p.Met1Thr) rs781220417
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
NM_005159.5(ACTC1):c.302A>G (p.Glu101Gly)
NM_005159.5(ACTC1):c.302A>T (p.Glu101Val) rs1891748027
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)
NM_005159.5(ACTC1):c.324A>T (p.Thr108=)
NM_005159.5(ACTC1):c.327G>A (p.Glu109=)
NM_005159.5(ACTC1):c.328G>A (p.Ala110Thr) rs1057523500
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)
NM_005159.5(ACTC1):c.332del (p.Pro111fs) rs1891747102
NM_005159.5(ACTC1):c.333G>C (p.Pro111=) rs774767260
NM_005159.5(ACTC1):c.337A>C (p.Asn113His)
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)
NM_005159.5(ACTC1):c.342C>T (p.Pro114=) rs878854754
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg) rs2140431879
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln) rs397517060
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr) rs1891746619
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
NM_005159.5(ACTC1):c.366T>C (p.Thr122=) rs1595761353
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.373A>G (p.Met125Val) rs121912677
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) rs1595761344
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile) rs1595761338
NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)
NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys) rs1891746032
NM_005159.5(ACTC1):c.381G>A (p.Glu127=) rs1405293135
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn) rs727504308
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.384C>T (p.Thr128=)
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) rs1595761325
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.397G>C (p.Ala133Pro) rs1566967697
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val) rs1257864393
NM_005159.5(ACTC1):c.401T>C (p.Met134Thr) rs2140431788
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr) rs1891745022
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val) rs2140431775
NM_005159.5(ACTC1):c.414C>A (p.Ile138=) rs1201685758
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
NM_005159.5(ACTC1):c.424C>T (p.Leu142=) rs1891744697
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.431T>G (p.Leu144Arg) rs1057524277
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)
NM_005159.5(ACTC1):c.441del (p.Gly148fs)
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)
NM_005159.5(ACTC1):c.454+13C>A
NM_005159.5(ACTC1):c.454+18G>A
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.5(ACTC1):c.455-10C>T
NM_005159.5(ACTC1):c.455-12T>C
NM_005159.5(ACTC1):c.455-18G>C rs925035661
NM_005159.5(ACTC1):c.455-4del rs1178667520
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp) rs1891726522
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr) rs1555418843
NM_005159.5(ACTC1):c.459T>C (p.Ile153=) rs2140431034
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
NM_005159.5(ACTC1):c.463C>T (p.Leu155=)
NM_005159.5(ACTC1):c.471T>C (p.Ser157=) rs2140431029
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu) rs2140431025
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) rs886039144
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala) rs1060502824
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile) rs1379875828
NM_005159.5(ACTC1):c.489C>T (p.His163=)
NM_005159.5(ACTC1):c.48T>G (p.Ser16=) rs1595762032
NM_005159.5(ACTC1):c.493G>A (p.Val165Ile) rs2140431000
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) rs267606628
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.500T>G (p.Ile167Ser) rs730880409
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met) rs1306504752
NM_005159.5(ACTC1):c.501C>T (p.Ile167=) rs1306504752
NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter) rs2140430970
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=) rs2140430970
NM_005159.5(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.5(ACTC1):c.509G>A (p.Gly170Asp)
NM_005159.5(ACTC1):c.514G>A (p.Ala172Thr) rs876661340
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.516T>G (p.Ala172=)
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
NM_005159.5(ACTC1):c.521C>A (p.Pro174His)
NM_005159.5(ACTC1):c.521C>T (p.Pro174Leu) rs2140430949
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.524A>C (p.His175Pro) rs1566967487
NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) rs1555418832
NM_005159.5(ACTC1):c.525T>C (p.His175=) rs2140430937
NM_005159.5(ACTC1):c.527C>T (p.Ala176Val) rs2140430933
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.5(ACTC1):c.529A>T (p.Ile177Phe)
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.537T>C (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.540G>C (p.Leu180=) rs1891724758
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)
NM_005159.5(ACTC1):c.541G>C (p.Asp181His) rs730880393
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met)
NM_005159.5(ACTC1):c.551_556del (p.Gly184_Arg185del) rs2140430900
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
NM_005159.5(ACTC1):c.556del (p.Asp186fs)
NM_005159.5(ACTC1):c.558C>T (p.Asp186=) rs1891724406
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala) rs1555418824
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.5(ACTC1):c.565G>C (p.Asp189His)
NM_005159.5(ACTC1):c.566A>C (p.Asp189Ala) rs2140430890
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=) rs1595760934
NM_005159.5(ACTC1):c.574A>G (p.Met192Val) rs1555418823
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
NM_005159.5(ACTC1):c.579G>A (p.Lys193=)
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.585C>T (p.Leu195=)
NM_005159.5(ACTC1):c.590A>G (p.Glu197Gly)
NM_005159.5(ACTC1):c.597C>A (p.Gly199=) rs1595760921
NM_005159.5(ACTC1):c.599_602dup (p.Phe202fs) rs2140430851
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro) rs2140430853
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) rs730880038
NM_005159.5(ACTC1):c.603C>T (p.Ser201=) rs2140430845
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile) rs1060502822
NM_005159.5(ACTC1):c.616+10T>C
NM_005159.5(ACTC1):c.616+1G>A rs111904141
NM_005159.5(ACTC1):c.616+3G>A
NM_005159.5(ACTC1):c.616+4_616+7del rs1891723274
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.616+5GT[6]
NM_005159.5(ACTC1):c.616+7G>A
NM_005159.5(ACTC1):c.616+7G>T
NM_005159.5(ACTC1):c.616+8T>C rs397517066
NM_005159.5(ACTC1):c.617-11T>C rs1891721032
NM_005159.5(ACTC1):c.617-12_617-11del rs1891721057
NM_005159.5(ACTC1):c.617-7T>A rs750536667
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
NM_005159.5(ACTC1):c.622C>A (p.Arg208Ser)
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val) rs1060502823
NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del)
NM_005159.5(ACTC1):c.633C>A (p.Val211=) rs199947846
NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys) rs1437269590
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro) rs397517067
NM_005159.5(ACTC1):c.636T>C (p.Arg212=) rs1595760838
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
NM_005159.5(ACTC1):c.639C>T (p.Asp213=)
NM_005159.5(ACTC1):c.63C>A (p.Ala21=) rs1595762020
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter) rs1060499837
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met) rs760269526
NM_005159.5(ACTC1):c.656G>A (p.Cys219Tyr) rs2140430672
NM_005159.5(ACTC1):c.658T>C (p.Tyr220His) rs1595760821
NM_005159.5(ACTC1):c.659A>G (p.Tyr220Cys)
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs) rs2140430645
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.664G>T (p.Ala222Ser) rs1555418793
NM_005159.5(ACTC1):c.66C>T (p.Gly22=) rs1060504729
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly)
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.681T>C (p.Asn227=) rs1891719741
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) rs1595760799
NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile) rs1060502825
NM_005159.5(ACTC1):c.694G>A (p.Ala232Thr) rs1131691829
NM_005159.5(ACTC1):c.695C>G (p.Ala232Gly) rs730880396
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val) rs730880396
NM_005159.5(ACTC1):c.697G>C (p.Ala233Pro) rs2140430611
NM_005159.5(ACTC1):c.699C>T (p.Ala233=) rs1595760786
NM_005159.5(ACTC1):c.69T>A (p.Phe23Leu) rs1555419008
NM_005159.5(ACTC1):c.69T>G (p.Phe23Leu) rs1555419008
NM_005159.5(ACTC1):c.700T>C (p.Ser234Pro) rs730880397
NM_005159.5(ACTC1):c.703TCC[2] (p.Ser237del)
NM_005159.5(ACTC1):c.705C>T (p.Ser235=) rs2140430606
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe) rs1595760777
NM_005159.5(ACTC1):c.712C>T (p.Leu238=) rs1891718902
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) rs1555418785
NM_005159.5(ACTC1):c.715G>T (p.Glu239Ter) rs1555418785
NM_005159.5(ACTC1):c.720G>A (p.Lys240=) rs2140430578
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg) rs1566967406
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln) rs1891718487
NM_005159.5(ACTC1):c.72G>A (p.Ala24=)
NM_005159.5(ACTC1):c.72G>C (p.Ala24=) rs778572289
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met) rs2140430556
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
NM_005159.5(ACTC1):c.738T>C (p.Asp246=)
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser) rs727505330
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.741C>T (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.752C>T (p.Thr251Ile)
NM_005159.5(ACTC1):c.753T>G (p.Thr251=) rs1595760737
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)
NM_005159.5(ACTC1):c.758G>T (p.Gly253Val) rs2140430523
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
NM_005159.5(ACTC1):c.75C>G (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.75C>T (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.765G>A (p.Glu255=) rs1891717558
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.774C>G (p.Arg258=) rs903582519
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
NM_005159.5(ACTC1):c.778C>T (p.Pro260Ser)
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.5(ACTC1):c.789C>G (p.Leu263=)
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.798C>G (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.7G>C (p.Asp3His) rs397517069
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu) rs2140430478
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+18G>A
NM_005159.5(ACTC1):c.808+1G>C rs730880400
NM_005159.5(ACTC1):c.808+20G>A
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.808+76G>C rs3729755
NM_005159.5(ACTC1):c.808+8G>T
NM_005159.5(ACTC1):c.808+9T>C
NM_005159.5(ACTC1):c.809-12A>G rs587780846
NM_005159.5(ACTC1):c.809-12A>T rs587780846
NM_005159.5(ACTC1):c.809-12_809-11del rs1891699165
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-12_809-11insGTGG rs774238821
NM_005159.5(ACTC1):c.809-14_809-11delinsAA
NM_005159.5(ACTC1):c.809-14del rs1891700511
NM_005159.5(ACTC1):c.809-16del
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA rs1447068308
NM_005159.5(ACTC1):c.809-18del rs1891700805
NM_005159.5(ACTC1):c.809-1G>A rs1566967122
NM_005159.5(ACTC1):c.809-20_809-19insTGTA rs1194538397
NM_005159.5(ACTC1):c.809-4C>T
NM_005159.5(ACTC1):c.809-58TG[12] rs59431308
NM_005159.5(ACTC1):c.809-58TG[13] rs59431308
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[18] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.809-58TG[27] rs59431308
NM_005159.5(ACTC1):c.809-58TG[28] rs59431308
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005159.5(ACTC1):c.809-58TG[30] rs59431308
NM_005159.5(ACTC1):c.809-58TG[31]
NM_005159.5(ACTC1):c.809-58TG[32]
NM_005159.5(ACTC1):c.809-58TG[33] rs59431308
NM_005159.5(ACTC1):c.809-58TG[36] rs59431308
NM_005159.5(ACTC1):c.809-8G>T rs767180775
NM_005159.5(ACTC1):c.811A>G (p.Met271Val) rs2140429730
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) rs1891698673
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
NM_005159.5(ACTC1):c.81C>A (p.Asp27Glu)
NM_005159.5(ACTC1):c.821C>T (p.Ala274Val) rs538052265
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
NM_005159.5(ACTC1):c.830A>G (p.His277Arg)
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser) rs1566967118
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.840T>C (p.Thr280=) rs1057522193
NM_005159.5(ACTC1):c.843C>T (p.Tyr281=)
NM_005159.5(ACTC1):c.843del (p.Thr280_Tyr281insTer)
NM_005159.5(ACTC1):c.846T>C (p.Asn282=) rs1566967111
NM_005159.5(ACTC1):c.847A>C (p.Ser283Arg)
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.852C>T (p.Ile284=)
NM_005159.5(ACTC1):c.853A>G (p.Met285Val)
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys) rs869025354
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005159.5(ACTC1):c.870T>C (p.Asp290=)
NM_005159.5(ACTC1):c.875G>C (p.Arg292Pro)
NM_005159.5(ACTC1):c.883C>A (p.Leu295Met) rs2140429655
NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln) rs1891697323
NM_005159.5(ACTC1):c.885G>C (p.Leu295=) rs2140429649
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn) rs730880402
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.891C>T (p.Ala297=) rs1566967102
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) rs1595760259
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) rs863225303
NM_005159.5(ACTC1):c.894C>T (p.Asn298=) rs863225303
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
NM_005159.5(ACTC1):c.906T>C (p.Ser302=) rs2140429615
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val) rs1057518530
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
NM_005159.5(ACTC1):c.90C>T (p.Arg30=) rs1555419004
NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp) rs1891696834
NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile) rs1891696768
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214
NM_005159.5(ACTC1):c.918T>A (p.Thr306=) rs397517074
NM_005159.5(ACTC1):c.922T>A (p.Tyr308Asn) rs1566967093
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His) rs1566967093
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.932T>A (p.Ile311Asn) rs2140429575
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs) rs1595760229
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)
NM_005159.5(ACTC1):c.944T>A (p.Met315Lys) rs1555418685
NM_005159.5(ACTC1):c.94G>A (p.Val32Ile) rs1555419003
NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)
NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) rs730880403
NM_005159.5(ACTC1):c.954A>C (p.Glu318Asp) rs1057520547
NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup) rs1595760207
NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile) rs1891695680
NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)
NM_005159.5(ACTC1):c.964C>G (p.Leu322Val) rs1891695577
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro) rs771011464
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
NM_005159.5(ACTC1):c.970C>T (p.Pro324Ser) rs886038880
NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) rs730880410
NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA rs2140429486
NM_005159.5(ACTC1):c.990+15T>C
NM_005159.5(ACTC1):c.990+6G>A rs749154513
NM_005159.5(ACTC1):c.990+6G>C
NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
NM_005159.5(ACTC1):c.991-10C>T rs1298992263
NM_005159.5(ACTC1):c.991-10_991-8del
NM_005159.5(ACTC1):c.991-18T>G rs1891683495
NM_005159.5(ACTC1):c.991-2del
NM_005159.5(ACTC1):c.991-8T>A
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val) rs730880405
NM_005159.5(ACTC1):c.991A>T (p.Ile331Phe) rs730880405
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629
NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser) rs267606629
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406
NM_005159.5(ACTC1):c.999T>C (p.Ala333=) rs1891683050
NM_005159.5(ACTC1):c.9C>T (p.Asp3=) rs535623090

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