ClinVar Miner

List of variants in gene ACTB studied for Baraitser-Winter syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.364-16T>C rs852423 0.51966
NM_001101.5(ACTB):c.984+39G>A rs852424 0.34158
NM_001101.5(ACTB):c.-6-33C>T rs2908425 0.33780
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474 0.01128
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001101.5(ACTB):c.-6-4G>T rs13447394 0.00334
NM_001101.5(ACTB):c.951C>T (p.Ile317=) rs13447408 0.00323
NM_001101.5(ACTB):c.985-6C>T rs182943508 0.00269
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140 0.00029
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001101.5(ACTB):c.124-7T>A rs199651295 0.00024
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409 0.00019
NM_001101.5(ACTB):c.124-4C>T rs13447397 0.00018
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_001101.5(ACTB):c.1089C>T (p.Asp363=) rs370848417 0.00016
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00016
NM_001101.5(ACTB):c.124-16G>A rs13447396 0.00015
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756 0.00009
NM_001101.5(ACTB):c.192C>T (p.Ile64=) rs745456857 0.00009
NM_001101.5(ACTB):c.280C>T (p.Leu94=) rs145281194 0.00009
NM_001101.5(ACTB):c.624C>T (p.Ile208=) rs144865943 0.00009
NM_001101.5(ACTB):c.984+16G>C rs767166581 0.00009
NM_001101.5(ACTB):c.582C>T (p.Thr194=) rs552927665 0.00006
NM_001101.5(ACTB):c.825C>T (p.His275=) rs373362107 0.00006
NM_001101.5(ACTB):c.93C>T (p.Phe31=) rs748892906 0.00005
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978 0.00004
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416 0.00004
NM_001101.5(ACTB):c.363+20T>G rs761362868 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001101.5(ACTB):c.732C>T (p.Asp244=) rs552269338 0.00004
NM_001101.5(ACTB):c.930C>T (p.Ala310=) rs34792388 0.00004
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.198C>T (p.Thr66=) rs750565033 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.30C>G (p.Val10=) rs768066226 0.00003
NM_001101.5(ACTB):c.324C>T (p.Ala108=) rs746032511 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.579C>A (p.Leu193=) rs759523049 0.00003
NM_001101.5(ACTB):c.669C>T (p.Phe223=) rs369943480 0.00003
NM_001101.5(ACTB):c.720C>T (p.Tyr240=) rs145793213 0.00003
NM_001101.5(ACTB):c.756T>C (p.Asn252=) rs774251900 0.00003
NM_001101.5(ACTB):c.802+20C>T rs372973178 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001101.5(ACTB):c.96C>T (p.Pro32=) rs755754152 0.00003
NM_001101.5(ACTB):c.1026C>T (p.Gly342=) rs780969261 0.00002
NM_001101.5(ACTB):c.1041C>T (p.Ala347=) rs190642491 0.00002
NM_001101.5(ACTB):c.111C>T (p.Arg37=) rs757736707 0.00002
NM_001101.5(ACTB):c.124-13C>T rs755158952 0.00002
NM_001101.5(ACTB):c.124-3C>T rs1189379541 0.00002
NM_001101.5(ACTB):c.124-5C>T rs769576985 0.00002
NM_001101.5(ACTB):c.312G>A (p.Leu104=) rs749687095 0.00002
NM_001101.5(ACTB):c.364-13C>T rs750756712 0.00002
NM_001101.5(ACTB):c.364-9G>C rs371859807 0.00002
NM_001101.5(ACTB):c.465C>T (p.Ser155=) rs760547214 0.00002
NM_001101.5(ACTB):c.654C>T (p.Tyr218=) rs781745429 0.00002
NM_001101.5(ACTB):c.657C>T (p.Val219=) rs143046775 0.00002
NM_001101.5(ACTB):c.738G>A (p.Gln246=) rs148969043 0.00002
NM_001101.5(ACTB):c.864C>T (p.Asp288=) rs766044090 0.00002
NM_001101.5(ACTB):c.984G>A (p.Lys328=) rs754862802 0.00002
NM_001101.5(ACTB):c.1095C>T (p.Ser365=) rs760936273 0.00001
NM_001101.5(ACTB):c.123+18G>A rs551932499 0.00001
NM_001101.5(ACTB):c.123+3A>G rs878963559 0.00001
NM_001101.5(ACTB):c.124-9C>T rs377520149 0.00001
NM_001101.5(ACTB):c.150G>A (p.Lys50=) rs1784833012 0.00001
NM_001101.5(ACTB):c.210C>T (p.Pro70=) rs758427319 0.00001
NM_001101.5(ACTB):c.228C>A (p.Val76=) rs1562719788 0.00001
NM_001101.5(ACTB):c.255C>T (p.Ile85=) rs371726724 0.00001
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728 0.00001
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.378C>T (p.Thr126=) rs1197579915 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala) rs1784814961 0.00001
NM_001101.5(ACTB):c.492C>T (p.Pro164=) rs1784814781 0.00001
NM_001101.5(ACTB):c.526C>T (p.Leu176=) rs781543876 0.00001
NM_001101.5(ACTB):c.588C>T (p.Arg196=) rs1184848861 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.663G>A (p.Leu221=) rs1187201047 0.00001
NM_001101.5(ACTB):c.702C>T (p.Ser234=) rs570862769 0.00001
NM_001101.5(ACTB):c.780A>T (p.Ala260=) rs1024438680 0.00001
NM_001101.5(ACTB):c.803-14C>T rs1284346916 0.00001
NM_001101.5(ACTB):c.803-18C>T rs370628413 0.00001
NM_001101.5(ACTB):c.804C>T (p.Gly268=) rs770089307 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001101.5(ACTB):c.985-10C>T rs367881583 0.00001
NM_001101.5(ACTB):c.985-9C>T rs138910287 0.00001
NC_000007.13:g.(?_5567379)_(5568370_?)dup
NC_000007.13:g.(?_5567379)_(5569051_?)dup
NC_000007.13:g.(?_5567379)_(5569288_?)dup
NC_000007.13:g.(?_5567615)_(5569051_?)dup
NM_001101.5(ACTB):c.-6-15C>G rs375195937
NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro) rs1784799009
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
NM_001101.5(ACTB):c.102C>T (p.Ile34=)
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101.5(ACTB):c.1047G>A (p.Leu349=)
NM_001101.5(ACTB):c.1053C>T (p.Thr351=) rs1784797975
NM_001101.5(ACTB):c.1056C>T (p.Phe352=)
NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)
NM_001101.5(ACTB):c.1059G>A (p.Gln353=) rs2128241176
NM_001101.5(ACTB):c.1063_1082del (p.Met355fs) rs2128241165
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) rs2128241170
NM_001101.5(ACTB):c.1074C>T (p.Ser358=)
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys) rs368352689
NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.1101C>G (p.Pro367=)
NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)
NM_001101.5(ACTB):c.1115G>A (p.Arg372His)
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) rs1554329068
NM_001101.5(ACTB):c.1122C>T (p.Cys374=) rs2128241151
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.118C>T (p.His40Tyr) rs1373863123
NM_001101.5(ACTB):c.120C>G (p.His40Gln)
NM_001101.5(ACTB):c.123+10C>T
NM_001101.5(ACTB):c.123+17G>A
NM_001101.5(ACTB):c.123+17G>T
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001101.5(ACTB):c.123+3A>C
NM_001101.5(ACTB):c.123+4G>A
NM_001101.5(ACTB):c.124-10T>C
NM_001101.5(ACTB):c.124-11T>G rs754033291
NM_001101.5(ACTB):c.124-14C>G rs565900219
NM_001101.5(ACTB):c.124-14C>T
NM_001101.5(ACTB):c.124-18T>C
NM_001101.5(ACTB):c.124-19_124-17del rs768341964
NM_001101.5(ACTB):c.124-20T>G
NM_001101.5(ACTB):c.124-6T>G
NM_001101.5(ACTB):c.124-8C>T
NM_001101.5(ACTB):c.124-9C>G
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) rs1562719872
NM_001101.5(ACTB):c.125G>C (p.Gly42Ala)
NM_001101.5(ACTB):c.12T>C (p.Asp4=)
NM_001101.5(ACTB):c.135G>T (p.Val45=)
NM_001101.5(ACTB):c.136G>C (p.Gly46Arg)
NM_001101.5(ACTB):c.138C>T (p.Gly46=)
NM_001101.5(ACTB):c.141G>A (p.Met47Ile) rs2128241411
NM_001101.5(ACTB):c.142G>T (p.Gly48Cys) rs2128241410
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) rs886041268
NM_001101.5(ACTB):c.156C>G (p.Ser52=)
NM_001101.5(ACTB):c.156C>T (p.Ser52=)
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.15C>T (p.Ile5=)
NM_001101.5(ACTB):c.169G>A (p.Glu57Lys)
NM_001101.5(ACTB):c.177G>A (p.Gln59=)
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.5(ACTB):c.195C>T (p.Leu65=) rs1431725288
NM_001101.5(ACTB):c.199C>T (p.Leu67=)
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.209C>A (p.Pro70His) rs587779769
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.20C>T (p.Ala7Val) rs11546916
NM_001101.5(ACTB):c.213C>T (p.Ile71=)
NM_001101.5(ACTB):c.215A>G (p.Glu72Gly) rs1131691341
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.219C>T (p.His73=) rs1166509821
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.220G>T (p.Gly74Cys)
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr) rs587779771
NM_001101.5(ACTB):c.225C>G (p.Ile75Met) rs759412044
NM_001101.5(ACTB):c.228C>T (p.Val76=) rs1562719788
NM_001101.5(ACTB):c.22C>G (p.Leu8Val)
NM_001101.5(ACTB):c.231C>A (p.Thr77=) rs2128241400
NM_001101.5(ACTB):c.231C>T (p.Thr77=)
NM_001101.5(ACTB):c.240C>G (p.Asp80Glu) rs2128241399
NM_001101.5(ACTB):c.249G>C (p.Glu83Asp)
NM_001101.5(ACTB):c.24C>A (p.Leu8=)
NM_001101.5(ACTB):c.24C>T (p.Leu8=)
NM_001101.5(ACTB):c.250A>G (p.Lys84Glu)
NM_001101.5(ACTB):c.265A>G (p.Thr89Ala)
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.275A>G (p.Asn92Ser) rs1784830795
NM_001101.5(ACTB):c.276T>C (p.Asn92=)
NM_001101.5(ACTB):c.27C>A (p.Val9=) rs1240714871
NM_001101.5(ACTB):c.27C>G (p.Val9=)
NM_001101.5(ACTB):c.27C>T (p.Val9=)
NM_001101.5(ACTB):c.286G>T (p.Val96Leu) rs2128241393
NM_001101.5(ACTB):c.294C>T (p.Pro98=)
NM_001101.5(ACTB):c.297G>A (p.Glu99=)
NM_001101.5(ACTB):c.2T>G (p.Met1Arg)
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.30C>T (p.Val10=)
NM_001101.5(ACTB):c.310C>T (p.Leu104=)
NM_001101.5(ACTB):c.313C>T (p.Leu105=)
NM_001101.5(ACTB):c.318C>G (p.Thr106=)
NM_001101.5(ACTB):c.318C>T (p.Thr106=) rs201751687
NM_001101.5(ACTB):c.321G>A (p.Glu107=) rs2128241391
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) rs1411316425
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser) rs1784829872
NM_001101.5(ACTB):c.327C>T (p.Pro109=)
NM_001101.5(ACTB):c.329del (p.Leu110fs) rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.34A>C (p.Asn12His) rs281875331
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.350A>T (p.Glu117Val) rs1554329516
NM_001101.5(ACTB):c.351G>A (p.Glu117=)
NM_001101.5(ACTB):c.351G>T (p.Glu117Asp) rs765265404
NM_001101.5(ACTB):c.355A>G (p.Met119Val)
NM_001101.5(ACTB):c.356T>C (p.Met119Thr) rs587779773
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.5(ACTB):c.363+15A>G rs772907450
NM_001101.5(ACTB):c.363+17C>T
NM_001101.5(ACTB):c.363+8G>T
NM_001101.5(ACTB):c.364-11C>G
NM_001101.5(ACTB):c.364-16_364-15delinsCG
NM_001101.5(ACTB):c.364-17_364-16delinsTC
NM_001101.5(ACTB):c.364-3C>T
NM_001101.5(ACTB):c.364-4_364-3insAA rs751359436
NM_001101.5(ACTB):c.364-5T>G
NM_001101.5(ACTB):c.364-7C>A
NM_001101.5(ACTB):c.364-7C>G rs764266143
NM_001101.5(ACTB):c.364-7C>T rs764266143
NM_001101.5(ACTB):c.366C>A (p.Ile122=) rs1584262227
NM_001101.5(ACTB):c.366C>T (p.Ile122=)
NM_001101.5(ACTB):c.369G>A (p.Met123Ile)
NM_001101.5(ACTB):c.373G>A (p.Glu125Lys)
NM_001101.5(ACTB):c.383A>C (p.Asn128Thr)
NM_001101.5(ACTB):c.386C>T (p.Thr129Ile)
NM_001101.5(ACTB):c.387C>T (p.Thr129=)
NM_001101.5(ACTB):c.393C>T (p.Ala131=)
NM_001101.5(ACTB):c.399C>T (p.Tyr133=)
NM_001101.5(ACTB):c.400G>A (p.Val134Ile)
NM_001101.5(ACTB):c.414T>C (p.Ala138=)
NM_001101.5(ACTB):c.423C>T (p.Ser141=)
NM_001101.5(ACTB):c.42C>G (p.Ser14=)
NM_001101.5(ACTB):c.432C>T (p.Ala144=) rs1254718824
NM_001101.5(ACTB):c.439C>T (p.Arg147Cys) rs2128241302
NM_001101.5(ACTB):c.440G>A (p.Arg147His)
NM_001101.5(ACTB):c.446C>T (p.Thr149Ile) rs587779775
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.454G>A (p.Val152Met) rs2128241296
NM_001101.5(ACTB):c.45C>T (p.Gly15=)
NM_001101.5(ACTB):c.471C>T (p.Asp157=)
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001101.5(ACTB):c.491C>A (p.Pro164His) rs1784814819
NM_001101.5(ACTB):c.495C>T (p.Ile165=)
NM_001101.5(ACTB):c.498C>T (p.Tyr166=)
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) rs1784841309
NM_001101.5(ACTB):c.510C>T (p.Ala170=)
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.511_522del (p.Leu171_Ala174del)
NM_001101.5(ACTB):c.515C>G (p.Pro172Arg)
NM_001101.5(ACTB):c.516C>G (p.Pro172=) rs756590817
NM_001101.5(ACTB):c.516C>T (p.Pro172=)
NM_001101.5(ACTB):c.522C>T (p.Ala174=)
NM_001101.5(ACTB):c.525C>T (p.Ile175=)
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001101.5(ACTB):c.537C>G (p.Asp179Glu) rs797044950
NM_001101.5(ACTB):c.537C>T (p.Asp179=) rs797044950
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.548G>A (p.Arg183Gln) rs11546934
NM_001101.5(ACTB):c.54G>A (p.Lys18=)
NM_001101.5(ACTB):c.551A>C (p.Asp184Ala) rs2128241278
NM_001101.5(ACTB):c.555G>C (p.Leu185=)
NM_001101.5(ACTB):c.561C>T (p.Asp187=)
NM_001101.5(ACTB):c.57C>T (p.Ala19=)
NM_001101.5(ACTB):c.582C>G (p.Thr194=)
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser) rs281875333
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.598T>G (p.Phe200Val) rs2128241275
NM_001101.5(ACTB):c.59G>A (p.Gly20Asp) rs536327578
NM_001101.5(ACTB):c.5A>T (p.Asp2Val)
NM_001101.5(ACTB):c.601A>G (p.Thr201Ala)
NM_001101.5(ACTB):c.602C>T (p.Thr201Ile)
NM_001101.5(ACTB):c.609G>A (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.60C>T (p.Gly20=)
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) rs587779776
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp) rs1057518071
NM_001101.5(ACTB):c.616dup (p.Arg206fs) rs1784812557
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.621A>G (p.Glu207=) rs1784812389
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.625G>T (p.Val209Leu) rs587779777
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys) rs1584261979
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101.5(ACTB):c.660C>T (p.Ala220=)
NM_001101.5(ACTB):c.661C>T (p.Leu221=)
NM_001101.5(ACTB):c.666_671del (p.Asp222_Phe223del)
NM_001101.5(ACTB):c.674_683del (p.Gln225fs)
NM_001101.5(ACTB):c.685A>G (p.Thr229Ala)
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.687G>T (p.Thr229=) rs138499594
NM_001101.5(ACTB):c.68G>A (p.Gly23Asp)
NM_001101.5(ACTB):c.699C>T (p.Ser233=)
NM_001101.5(ACTB):c.69C>T (p.Gly23=)
NM_001101.5(ACTB):c.706C>T (p.Leu236=)
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn) rs2128241451
NM_001101.5(ACTB):c.721G>A (p.Glu241Lys) rs2128241271
NM_001101.5(ACTB):c.724C>T (p.Leu242=)
NM_001101.5(ACTB):c.728C>T (p.Pro243Leu) rs11546899
NM_001101.5(ACTB):c.72C>T (p.Asp24=)
NM_001101.5(ACTB):c.733G>A (p.Gly245Ser) rs1784809823
NM_001101.5(ACTB):c.739G>A (p.Val247Ile) rs1784809671
NM_001101.5(ACTB):c.745A>T (p.Thr249Ser) rs2128241268
NM_001101.5(ACTB):c.753C>T (p.Gly251=)
NM_001101.5(ACTB):c.772C>G (p.Pro258Ala)
NM_001101.5(ACTB):c.783C>A (p.Leu261=) rs1057523531
NM_001101.5(ACTB):c.786C>T (p.Phe262=) rs2128241261
NM_001101.5(ACTB):c.787del (p.Gln263fs)
NM_001101.5(ACTB):c.78C>T (p.Ala26=) rs1172866708
NM_001101.5(ACTB):c.798C>T (p.Phe266=)
NM_001101.5(ACTB):c.799C>T (p.Leu267=)
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) rs1784841235
NM_001101.5(ACTB):c.801G>T (p.Leu267=) rs2128241260
NM_001101.5(ACTB):c.802+10G>A
NM_001101.5(ACTB):c.802+10G>C
NM_001101.5(ACTB):c.802+12C>T
NM_001101.5(ACTB):c.802+13_802+19dup
NM_001101.5(ACTB):c.802+15_802+22del rs1411297835
NM_001101.5(ACTB):c.802+17dup
NM_001101.5(ACTB):c.802+18C>A
NM_001101.5(ACTB):c.802+18C>T
NM_001101.5(ACTB):c.802+6dup
NM_001101.5(ACTB):c.802+8G>C rs2128241257
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg) rs1554329269
NM_001101.5(ACTB):c.803-13A>G
NM_001101.5(ACTB):c.803-16C>T
NM_001101.5(ACTB):c.803-17C>T
NM_001101.5(ACTB):c.803-20T>A
NM_001101.5(ACTB):c.803-6T>G
NM_001101.5(ACTB):c.803-7C>G
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.803-9C>G
NM_001101.5(ACTB):c.803-9C>T rs367990633
NM_001101.5(ACTB):c.812C>T (p.Ser271Phe) rs1784805528
NM_001101.5(ACTB):c.813C>G (p.Ser271=)
NM_001101.5(ACTB):c.813C>T (p.Ser271=)
NM_001101.5(ACTB):c.814T>C (p.Cys272Arg)
NM_001101.5(ACTB):c.819C>T (p.Gly273=)
NM_001101.5(ACTB):c.81C>A (p.Pro27=)
NM_001101.5(ACTB):c.822C>T (p.Ile274=) rs377390140
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001101.5(ACTB):c.828A>C (p.Glu276Asp) rs2128241241
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001101.5(ACTB):c.834C>A (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.834C>G (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.83G>A (p.Arg28Gln) rs2128241449
NM_001101.5(ACTB):c.860T>C (p.Val287Ala) rs2128241238
NM_001101.5(ACTB):c.873A>G (p.Lys291=)
NM_001101.5(ACTB):c.874dup (p.Asp292fs) rs2128241236
NM_001101.5(ACTB):c.876C>A (p.Asp292Glu)
NM_001101.5(ACTB):c.877C>T (p.Leu293=)
NM_001101.5(ACTB):c.880T>G (p.Tyr294Asp) rs1784804578
NM_001101.5(ACTB):c.885C>T (p.Ala295=)
NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)
NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)
NM_001101.5(ACTB):c.891A>G (p.Thr297=)
NM_001101.5(ACTB):c.898T>C (p.Ser300Pro)
NM_001101.5(ACTB):c.900T>G (p.Ser300=)
NM_001101.5(ACTB):c.903C>A (p.Gly301=)
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001101.5(ACTB):c.90C>T (p.Val30=)
NM_001101.5(ACTB):c.924C>T (p.Gly308=) rs1584261529
NM_001101.5(ACTB):c.925A>T (p.Ile309Phe)
NM_001101.5(ACTB):c.931G>C (p.Asp311His) rs1784803432
NM_001101.5(ACTB):c.943_945del (p.Lys315del) rs1584261482
NM_001101.5(ACTB):c.948G>A (p.Glu316=)
NM_001101.5(ACTB):c.955G>A (p.Ala319Thr)
NM_001101.5(ACTB):c.955G>T (p.Ala319Ser)
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) rs1784802825
NM_001101.5(ACTB):c.966C>T (p.Pro322=)
NM_001101.5(ACTB):c.984+10T>A
NM_001101.5(ACTB):c.984+10T>C
NM_001101.5(ACTB):c.984+12dup rs766398197
NM_001101.5(ACTB):c.984+19T>A
NM_001101.5(ACTB):c.984+9C>T
NM_001101.5(ACTB):c.985-13C>T
NM_001101.5(ACTB):c.985-15C>T
NM_001101.5(ACTB):c.985-16C>T
NM_001101.5(ACTB):c.985-5_985-3del rs772626920
NM_001101.5(ACTB):c.985-7T>A rs1784799522
NM_001101.5(ACTB):c.985-8C>T
NM_001101.5(ACTB):c.996T>G (p.Pro332=)

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