NM_005159.5(ACTC1):c.*39C>T
|
rs3729758
|
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.616+6T>C
|
rs574862389
|
0.00003
|
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.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
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.311C>T (p.Pro104Leu)
|
rs1405829098
|
0.00001
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)
|
rs730880402
|
0.00001
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
NC_000015.9:g.(?_35082593)_(35087029_?)dup
|
|
|
NM_005159.4(ACTC1):c.*388G>C
|
rs1370154
|
|
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.103T>G (p.Ser35Ala)
|
rs1595761987
|
|
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.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.1109C>G (p.Ser370Cys)
|
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val)
|
rs2140428902
|
|
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
|
|
|
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr)
|
rs2140433161
|
|
NM_005159.5(ACTC1):c.129+3A>G
|
rs763452221
|
|
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)
|
rs768526036
|
|
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.151C>T (p.Gln51Ter)
|
|
|
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.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.1A>G (p.Met1Val)
|
|
|
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
|
|
|
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala)
|
rs730880390
|
|
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
|
|
|
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser)
|
rs767734253
|
|
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.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.302A>T (p.Glu101Val)
|
rs1891748027
|
|
NM_005159.5(ACTC1):c.309C>A (p.His103Gln)
|
rs769303249
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
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.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.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.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.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.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.454G>A (p.Gly152Ser)
|
rs1247069535
|
|
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
|
|
|
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)
|
rs1555418843
|
|
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.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.507G>A (p.Glu169=)
|
rs1555418837
|
|
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
NM_005159.5(ACTC1):c.524A>C (p.His175Pro)
|
rs1566967487
|
|
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.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.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.574A>G (p.Met192Val)
|
rs1555418823
|
|
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
|
|
|
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn)
|
rs730880395
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
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+3G>A
|
|
|
NM_005159.5(ACTC1):c.616+4_616+7del
|
rs1891723274
|
|
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.639C>A (p.Asp213Glu)
|
|
|
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.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.707C>T (p.Ser236Phe)
|
rs1595760777
|
|
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.730C>A (p.Leu244Met)
|
rs2140430556
|
|
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
|
|
|
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.778C>G (p.Pro260Ala)
|
|
|
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)
|
rs1060502821
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005159.5(ACTC1):c.808+1G>C
|
rs730880400
|
|
NM_005159.5(ACTC1):c.808+3G>A
|
rs397517070
|
|
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.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.883C>A (p.Leu295Met)
|
rs2140429655
|
|
NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln)
|
rs1891697323
|
|
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)
|
rs730880402
|
|
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
|
rs1595760259
|
|
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
|
|
|
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)
|
rs1057518530
|
|
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.922T>C (p.Tyr308His)
|
rs1566967093
|
|
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
|
|
|
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)
|
rs1595760229
|
|
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.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.970_973del (p.Pro324fs)
|
|
|
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)
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rs1555418679
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NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)
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rs730880410
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NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA
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rs2140429486
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NM_005159.5(ACTC1):c.990+6G>A
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rs749154513
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NM_005159.5(ACTC1):c.990+6G>C
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NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
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NM_005159.5(ACTC1):c.991-2del
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NM_005159.5(ACTC1):c.991A>G (p.Ile331Val)
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rs730880405
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NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)
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rs730880406
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