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
|
|