ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 419
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005159.5(ACTC1):c.141G>T (p.Val47=) rs1409682416 0.00016
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
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_005159.5(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.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.717G>A (p.Glu239=) rs369019849 0.00006
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
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.941G>A (p.Arg314His) rs121912673 0.00003
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_005159.5(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.130-4A>T rs772110994 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
NC_000015.9:g.(?_35082593)_(35087029_?)dup
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.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.103T>G (p.Ser35Ala) rs1595761987
NM_005159.5(ACTC1):c.1050T>A (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.1070T>C (p.Met357Thr)
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu) rs1595759946
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.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1119C>T (p.His373=) rs1208061059
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.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+14C>G
NM_005159.5(ACTC1):c.129+15G>A
NM_005159.5(ACTC1):c.129+17G>T
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.12C>A (p.Asp4Glu) rs768526036
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-18C>A
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.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.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
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.220G>C (p.Glu74Gln)
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.234C>T (p.Ile78=) rs1393400015
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
NM_005159.5(ACTC1):c.267C>T (p.His89=)
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.2T>C (p.Met1Thr) rs781220417
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
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.329C>T (p.Ala110Val)
NM_005159.5(ACTC1):c.332del (p.Pro111fs) rs1891747102
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.362T>C (p.Met121Thr) rs1891746619
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
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.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.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.421G>C (p.Val141Leu)
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
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>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.471T>C (p.Ser157=) rs2140431029
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu) rs2140431025
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.493G>A (p.Val165Ile) rs2140431000
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>C (p.Tyr168=) rs2140430970
NM_005159.5(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
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.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.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.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.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.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.607G>A (p.Val203Ile) rs1060502822
NM_005159.5(ACTC1):c.616+10T>C
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.617-11T>C rs1891721032
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val) rs1060502823
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.636T>C (p.Arg212=) rs1595760838
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met) rs760269526
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) 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.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.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.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.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.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
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.75C>A (p.Gly25=)
NM_005159.5(ACTC1):c.75C>T (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
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.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+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_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-12_809-11insGTGG rs774238821
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA rs1447068308
NM_005159.5(ACTC1):c.809-20_809-19insTGTA rs1194538397
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[32]
NM_005159.5(ACTC1):c.809-8G>T rs767180775
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) rs1891698673
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
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.854T>A (p.Met285Lys) rs869025354
NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
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.892A>G (p.Asn298Asp) rs1595760259
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.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.934_935delinsT (p.Ala312fs) rs1595760229
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
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.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.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
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.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.993T>C (p.Ile331=)
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) 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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