Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432433_229432556delCA2650926678ACTA1c.454+2_455del
c.319+2_320del
 gnomAD v4
1g.229432468_229432542delCA2650926696ACTA1c.454+22_455-29del (n.454+22_455-29del)
c.319+22_320-29del (n.319+22_320-29del)
 gnomAD v4
1g.229432541delCA1442871ACTA1c.454+19del (n.454+19del)
c.319+19del (n.319+19del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432539G>ACA2650926818ACTA1c.454+17C>T (n.454+17C>T)
c.319+17C>T (n.319+17C>T)
 gnomAD v4
1g.229432539G=CA1226125866ACTA1c.454+17C= (n.454+17C=)
c.319+17C= (n.319+17C=)
1g.229432539G>TCA529915328ACTA1c.454+17C>A (n.454+17C>A)
c.319+17C>A (n.319+17C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432540G>ACA2574151341ACTA1c.454+16C>T (n.454+16C>T)
c.319+16C>T (n.319+16C>T)
 gnomAD v4
1g.229432541G>ACA1442872ACTA1c.454+15C>T (n.454+15C>T)
c.319+15C>T (n.319+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432541G=CA1143479586ACTA1c.454+15C= (n.454+15C=)
c.319+15C= (n.319+15C=)
1g.229432541G>TCA1442873ACTA1c.454+15C>A (n.454+15C>A)
c.319+15C>A (n.319+15C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432542delCA2580062280ACTA1c.454+14del (n.454+14del)
c.319+14del (n.319+14del)
 ClinVar
1g.229432542C>ACA2574151342ACTA1c.454+14G>T (n.454+14G>T)
c.319+14G>T (n.319+14G>T)
1g.229432543A>CCA2550590291ACTA1c.454+13T>G (n.454+13T>G)
c.319+13T>G (n.319+13T>G)
 gnomAD v4
1g.229432543A>TCA2501521743ACTA1c.454+13T>A (n.454+13T>A)
c.319+13T>A (n.319+13T>A)
1g.229432544G>ACA1442874ACTA1c.454+12C>T (n.454+12C>T)
c.319+12C>T (n.319+12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432544G=CA1226125867ACTA1c.454+12C= (n.454+12C=)
c.319+12C= (n.319+12C=)
1g.229432544G>TCA2539567588ACTA1c.454+12C>A (n.454+12C>A)
c.319+12C>A (n.319+12C>A)
1g.229432545C=CA1146096580ACTA1c.454+11G= (n.454+11G=)
c.319+11G= (n.319+11G=)
1g.229432545C>GCA1226125868ACTA1c.454+11G>C (n.454+11G>C)
c.319+11G>C (n.319+11G>C)
 dbSNP
1g.229432545C>TCA1442875ACTA1c.454+11G>A (n.454+11G>A)
c.319+11G>A (n.319+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432545_229432546insTCA2748068705ACTA1c.454+10_454+11insA (n.454+10_454+11insA)
c.319+10_319+11insA (n.319+10_319+11insA)
1g.229432546G>ACA2650926819ACTA1c.454+10C>T (n.454+10C>T)
c.319+10C>T (n.319+10C>T)
 dbSNP gnomAD v4
1g.229432546G>CCA529915329ACTA1c.454+10C>G (n.454+10C>G)
c.319+10C>G (n.319+10C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.229432546G=CA1226125869ACTA1c.454+10C= (n.454+10C=)
c.319+10C= (n.319+10C=)
1g.229432546G>TCA732581123ACTA1c.454+10C>A (n.454+10C>A)
c.319+10C>A (n.319+10C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432548G>ACA529915330ACTA1c.454+8C>T (n.454+8C>T)
c.319+8C>T (n.319+8C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432548G=CA1226125870ACTA1c.454+8C= (n.454+8C=)
c.319+8C= (n.319+8C=)
1g.229432549C>ACA1442876ACTA1c.454+7G>T (n.454+7G>T)
c.319+7G>T (n.319+7G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432549C=CA1149051003ACTA1c.454+7G= (n.454+7G=)
c.319+7G= (n.319+7G=)
1g.229432550A=CA1226125871ACTA1c.454+6T= (n.454+6T=)
c.319+6T= (n.319+6T=)
1g.229432550A>CCA1013145711ACTA1c.454+6T>G (n.454+6T>G)
c.319+6T>G (n.319+6T>G)
 gnomAD v3 gnomAD v4
1g.229432550A>GCA2650926820ACTA1c.454+6T>C (n.454+6T>C)
c.319+6T>C (n.319+6T>C)
 gnomAD v4
1g.229432550A>TCA1442877ACTA1c.454+6T>A (n.454+6T>A)
c.319+6T>A (n.319+6T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432551C=CA1226125872ACTA1c.454+5G= (n.454+5G=)
c.319+5G= (n.319+5G=)
1g.229432551C>GCA1226125873ACTA1c.454+5G>C (n.454+5G>C)
c.319+5G>C (n.319+5G>C)
 dbSNP gnomAD v4
1g.229432551C>TCA529915331ACTA1c.454+5G>A (n.454+5G>A)
c.319+5G>A (n.319+5G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432552T>ACA529915332ACTA1c.454+4A>T (n.454+4A>T)
c.319+4A>T (n.319+4A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432552T=CA1226125874ACTA1c.454+4A= (n.454+4A=)
c.319+4A= (n.319+4A=)
1g.229432553C>ACA1442878ACTA1c.454+3G>T (n.454+3G>T)
c.319+3G>T (n.319+3G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432553C=CA1143453130ACTA1c.454+3G= (n.454+3G=)
c.319+3G= (n.319+3G=)
1g.229432553C>TCA1013145715ACTA1c.454+3G>A (n.454+3G>A)
c.319+3G>A (n.319+3G>A)
 gnomAD v3 gnomAD v4
1g.229432554A>CCA345149046ACTA1c.454+2T>G (n.454+2T>G)
c.319+2T>G (n.319+2T>G)
1g.229432554A>GCA345149049ACTA1c.454+2T>C (n.454+2T>C)
c.319+2T>C (n.319+2T>C)
1g.229432554A>TCA345149053ACTA1c.454+2T>A (n.454+2T>A)
c.319+2T>A (n.319+2T>A)
1g.229432555C>ACA345149062ACTA1c.454+1G>T (n.454+1G>T)
c.319+1G>T (n.319+1G>T)
1g.229432555C>GCA345149060ACTA1c.454+1G>C (n.454+1G>C)
c.319+1G>C (n.319+1G>C)
1g.229432555C>TCA345149058ACTA1c.454+1G>A (n.454+1G>A)
c.319+1G>A (n.319+1G>A)
 gnomAD v4
1g.229432556C>ACA345149064ACTA1c.454G>T (p.Gly152Cys)
c.319G>T (p.Gly107Cys)
 gnomAD v4
1g.229432556C>GCA345149068ACTA1c.454G>C (p.Gly152Arg)
c.319G>C (p.Gly107Arg)
1g.229432556C>TCA345149066ACTA1c.454G>A (p.Gly152Ser)
c.319G>A (p.Gly107Ser)
 gnomAD v4 COSMIC
1g.229432557G>ACA423755160ACTA1c.453C>T (p.Thr151=)
c.318C>T (p.Thr106=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229432557G>CCA1442880ACTA1c.453C>G (p.Thr151=)
c.318C>G (p.Thr106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432557G=CA1140972736ACTA1c.453C= (p.Thr151=)
c.318C= (p.Thr106=)
1g.229432557G>TCA1442879ACTA1c.453C>A (p.Thr151=)
c.318C>A (p.Thr106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432558G>ACA345149074ACTA1c.452C>T (p.Thr151Ile)
c.317C>T (p.Thr106Ile)
1g.229432558G>CCA345149080ACTA1c.452C>G (p.Thr151Ser)
c.317C>G (p.Thr106Ser)
1g.229432558G>TCA345149077ACTA1c.452C>A (p.Thr151Asn)
c.317C>A (p.Thr106Asn)
 ClinVar dbSNP
1g.229432559T>ACA345149083ACTA1c.451A>T (p.Thr151Ser)
c.316A>T (p.Thr106Ser)
1g.229432559T>CCA345149087ACTA1c.451A>G (p.Thr151Ala)
c.316A>G (p.Thr106Ala)
1g.229432559T>GCA345149085ACTA1c.451A>C (p.Thr151Pro)
c.316A>C (p.Thr106Pro)
1g.229432560G>ACA423755163ACTA1c.450C>T (p.Thr150=)
c.315C>T (p.Thr105=)
1g.229432560G>CCA423755164ACTA1c.450C>G (p.Thr150=)
c.315C>G (p.Thr105=)
1g.229432560G>TCA423755165ACTA1c.450C>A (p.Thr150=)
c.315C>A (p.Thr105=)
1g.229432561G>ACA345149090ACTA1c.449C>T (p.Thr150Ile)
c.314C>T (p.Thr105Ile)
 ClinVar
1g.229432561G>CCA345149092ACTA1c.449C>G (p.Thr150Ser)
c.314C>G (p.Thr105Ser)
 ClinVar dbSNP
1g.229432561G=CA1226125875ACTA1c.449C= (p.Thr150=)
c.314C= (p.Thr105=)
1g.229432561G>TCA345149091ACTA1c.449C>A (p.Thr150Asn)
c.314C>A (p.Thr105Asn)
1g.229432562T>ACA345149093ACTA1c.448A>T (p.Thr150Ser)
c.313A>T (p.Thr105Ser)
 ClinVar
1g.229432562T>CCA345149095ACTA1c.448A>G (p.Thr150Ala)
c.313A>G (p.Thr105Ala)
1g.229432562T>GCA345149094ACTA1c.448A>C (p.Thr150Pro)
c.313A>C (p.Thr105Pro)
 gnomAD v3 gnomAD v4
1g.229432563C>ACA345149097ACTA1c.447G>T (p.Arg149Ser)
c.312G>T (p.Arg104Ser)
 dbSNP gnomAD v4
1g.229432563C=CA1226125876ACTA1c.447G= (p.Arg149=)
c.312G= (p.Arg104=)
1g.229432563C>GCA345149100ACTA1c.447G>C (p.Arg149Ser)
c.312G>C (p.Arg104Ser)
1g.229432563C>TCA423755169ACTA1c.447G>A (p.Arg149=)
c.312G>A (p.Arg104=)
1g.229432564C>ACA345149102ACTA1c.446G>T (p.Arg149Met)
c.311G>T (p.Arg104Met)
1g.229432564C=CA1144233515ACTA1c.446G= (p.Arg149=)
c.311G= (p.Arg104=)
1g.229432564C>GCA345149105ACTA1c.446G>C (p.Arg149Thr)
c.311G>C (p.Arg104Thr)
1g.229432564C>TCA221488ACTA1c.446G>A (p.Arg149Lys)
c.311G>A (p.Arg104Lys)
 ClinVar dbSNP COSMIC
1g.229432565T>ACA345149111ACTA1c.445A>T (p.Arg149Trp)
c.310A>T (p.Arg104Trp)
1g.229432565T>CCA345149115ACTA1c.445A>G (p.Arg149Gly)
c.310A>G (p.Arg104Gly)
1g.229432565T>GCA423755171ACTA1c.445A>C (p.Arg149=)
c.310A>C (p.Arg104=)
 dbSNP
1g.229432565T=CA1226125877ACTA1c.445A= (p.Arg149=)
c.310A= (p.Arg104=)
1g.229432566G>ACA1442881ACTA1c.444C>T (p.Gly148=)
c.309C>T (p.Gly103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432566G>CCA423755172ACTA1c.444C>G (p.Gly148=)
c.309C>G (p.Gly103=)
1g.229432566G=CA1226125878ACTA1c.444C= (p.Gly148=)
c.309C= (p.Gly103=)
1g.229432566G>TCA423755173ACTA1c.444C>A (p.Gly148=)
c.309C>A (p.Gly103=)
1g.229432567C>ACA345149129ACTA1c.443G>T (p.Gly148Val)
c.308G>T (p.Gly103Val)
 ClinVar
1g.229432567C>GCA345149130ACTA1c.443G>C (p.Gly148Ala)
c.308G>C (p.Gly103Ala)
1g.229432567C>TCA345149132ACTA1c.443G>A (p.Gly148Asp)
c.308G>A (p.Gly103Asp)
1g.229432568C>ACA345149133ACTA1c.442G>T (p.Gly148Cys)
c.307G>T (p.Gly103Cys)
1g.229432568C=CA1144233516ACTA1c.442G= (p.Gly148=)
c.307G= (p.Gly103=)
1g.229432568C>GCA10602749ACTA1c.442G>C (p.Gly148Arg)
c.307G>C (p.Gly103Arg)
 ClinVar dbSNP
1g.229432568C>TCA221485ACTA1c.442G>A (p.Gly148Ser)
c.307G>A (p.Gly103Ser)
 ClinVar dbSNP
1g.229432570_229432575dupCA2586968416ACTA1c.437_442dup (p.Ser147_Gly148insAlaSer)
c.302_307dup (p.Ser102_Gly103insAlaSer)
1g.229432569G>ACA423755176ACTA1c.441C>T (p.Ser147=)
c.306C>T (p.Ser102=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229432569G>CCA423755179ACTA1c.441C>G (p.Ser147=)
c.306C>G (p.Ser102=)
 gnomAD v4
1g.229432569G=CA1226125879ACTA1c.441C= (p.Ser147=)
c.306C= (p.Ser102=)
1g.229432569G>TCA423755180ACTA1c.441C>A (p.Ser147=)
c.306C>A (p.Ser102=)
1g.229432570G>ACA345149135ACTA1c.440C>T (p.Ser147Phe)
c.305C>T (p.Ser102Phe)
 ClinVar
1g.229432570G>CCA345149143ACTA1c.440C>G (p.Ser147Cys)
c.305C>G (p.Ser102Cys)
1g.229432570G>TCA345149145ACTA1c.440C>A (p.Ser147Tyr)
c.305C>A (p.Ser102Tyr)
 ClinVar
1g.229432571A>CCA345149146ACTA1c.439T>G (p.Ser147Ala)
c.304T>G (p.Ser102Ala)
1g.229432571A>GCA345149147ACTA1c.439T>C (p.Ser147Pro)
c.304T>C (p.Ser102Pro)
1g.229432571A>TCA345149151ACTA1c.439T>A (p.Ser147Thr)
c.304T>A (p.Ser102Thr)
1g.229432572G>ACA423755182ACTA1c.438C>T (p.Ala146=)
c.303C>T (p.Ala101=)
1g.229432572G>CCA423755186ACTA1c.438C>G (p.Ala146=)
c.303C>G (p.Ala101=)
 dbSNP
1g.229432572G=CA1226125880ACTA1c.438C= (p.Ala146=)
c.303C= (p.Ala101=)
1g.229432572G>TCA423755184ACTA1c.438C>A (p.Ala146=)
c.303C>A (p.Ala101=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.229432573G>ACA345149154ACTA1c.437C>T (p.Ala146Val)
c.302C>T (p.Ala101Val)
 ClinVar dbSNP
1g.229432573G>CCA345149155ACTA1c.437C>G (p.Ala146Gly)
c.302C>G (p.Ala101Gly)
1g.229432573G=CA1226125882ACTA1c.437C= (p.Ala146=)
c.302C= (p.Ala101=)
1g.229432573G>TCA345149156ACTA1c.437C>A (p.Ala146Asp)
c.302C>A (p.Ala101Asp)
1g.229432573_229432574delinsGCCA1226125881ACTA1c.436_437delinsGC (p.Ala146=)
c.301_302delinsGC (p.Ala101=)
1g.229432574delCA529915333ACTA1c.436del (p.Ala146ProfsTer?)
c.301del (p.Ala101ProfsTer?)
c.436del (p.Ala146ProfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432574C>ACA345149159ACTA1c.436G>T (p.Ala146Ser)
c.301G>T (p.Ala101Ser)
1g.229432574C>GCA345149165ACTA1c.436G>C (p.Ala146Pro)
c.301G>C (p.Ala101Pro)
1g.229432574C>TCA345149158ACTA1c.436G>A (p.Ala146Thr)
c.301G>A (p.Ala101Thr)
1g.229432575G>ACA1442882ACTA1c.435C>T (p.Tyr145=)
c.300C>T (p.Tyr100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229432575G>CCA345149170ACTA1c.435C>G (p.Tyr145Ter)
c.300C>G (p.Tyr100Ter)
 gnomAD v4
1g.229432575G=CA1143794504ACTA1c.435C= (p.Tyr145=)
c.300C= (p.Tyr100=)
1g.229432575G>TCA1442883ACTA1c.435C>A (p.Tyr145Ter)
c.300C>A (p.Tyr100Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432576T>ACA345149174ACTA1c.434A>T (p.Tyr145Phe)
c.299A>T (p.Tyr100Phe)
 ClinVar
1g.229432576T>CCA345149176ACTA1c.434A>G (p.Tyr145Cys)
c.299A>G (p.Tyr100Cys)
1g.229432576T>GCA345149178ACTA1c.434A>C (p.Tyr145Ser)
c.299A>C (p.Tyr100Ser)
1g.229432576_229432577delinsTACA1226125883ACTA1c.433_434delinsTA (p.Tyr145=)
c.298_299delinsTA (p.Tyr100=)
1g.229432577delCA1226125884ACTA1c.433del (p.Tyr145ThrfsTer?)
c.298del (p.Tyr100ThrfsTer?)
c.433del (p.Tyr145ThrfsTer18)
 dbSNP
1g.229432577A>CCA345149180ACTA1c.433T>G (p.Tyr145Asp)
c.298T>G (p.Tyr100Asp)
1g.229432577A>GCA345149182ACTA1c.433T>C (p.Tyr145His)
c.298T>C (p.Tyr100His)
1g.229432577A>TCA345149183ACTA1c.433T>A (p.Tyr145Asn)
c.298T>A (p.Tyr100Asn)
1g.229432578G>ACA423755055ACTA1c.432C>T (p.Leu144=)
c.297C>T (p.Leu99=)
 dbSNP
1g.229432578G>CCA423755056ACTA1c.432C>G (p.Leu144=)
c.297C>G (p.Leu99=)
1g.229432578G>TCA423755057ACTA1c.432C>A (p.Leu144=)
c.297C>A (p.Leu99=)
1g.229432579A>CCA345149185ACTA1c.431T>G (p.Leu144Arg)
c.296T>G (p.Leu99Arg)
1g.229432579A>GCA345149186ACTA1c.431T>C (p.Leu144Pro)
c.296T>C (p.Leu99Pro)
 ClinVar
1g.229432579A>TCA345149188ACTA1c.431T>A (p.Leu144His)
c.296T>A (p.Leu99His)
 gnomAD v4
1g.229432580G>ACA10588284ACTA1c.430C>T (p.Leu144Phe)
c.295C>T (p.Leu99Phe)
 ClinVar dbSNP
1g.229432580G>CCA345149190ACTA1c.430C>G (p.Leu144Val)
c.295C>G (p.Leu99Val)
1g.229432580G=CA1226125885ACTA1c.430C= (p.Leu144=)
c.295C= (p.Leu99=)
1g.229432580G>TCA345149192ACTA1c.430C>A (p.Leu144Ile)
c.295C>A (p.Leu99Ile)
1g.229432581G>ACA423755062ACTA1c.429C>T (p.Ser143=)
c.294C>T (p.Ser98=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.229432581G>CCA423755063ACTA1c.429C>G (p.Ser143=)
c.294C>G (p.Ser98=)
 COSMIC
1g.229432581G=CA1226125886ACTA1c.429C= (p.Ser143=)
c.294C= (p.Ser98=)
1g.229432581G>TCA423755064ACTA1c.429C>A (p.Ser143=)
c.294C>A (p.Ser98=)
1g.229432582G>ACA1442884ACTA1c.428C>T (p.Ser143Phe)
c.293C>T (p.Ser98Phe)
 ClinVar dbSNP ExAC gnomAD v2
1g.229432582G>CCA38816219ACTA1c.428C>G (p.Ser143Cys)
c.293C>G (p.Ser98Cys)
 dbSNP
1g.229432582G=CA1140967570ACTA1c.428C= (p.Ser143=)
c.293C= (p.Ser98=)
1g.229432582G>TCA345149199ACTA1c.428C>A (p.Ser143Tyr)
c.293C>A (p.Ser98Tyr)
1g.229432583A=CA1226125887ACTA1c.427T= (p.Ser143=)
c.292T= (p.Ser98=)
1g.229432583A>CCA345149202ACTA1c.427T>G (p.Ser143Ala)
c.292T>G (p.Ser98Ala)
1g.229432583A>GCA345149203ACTA1c.427T>C (p.Ser143Pro)
c.292T>C (p.Ser98Pro)
 ClinVar dbSNP
1g.229432583A>TCA345149204ACTA1c.427T>A (p.Ser143Thr)
c.292T>A (p.Ser98Thr)
1g.229432584C>ACA423755066ACTA1c.426G>T (p.Leu142=)
c.291G>T (p.Leu97=)
1g.229432584C>GCA423755067ACTA1c.426G>C (p.Leu142=)
c.291G>C (p.Leu97=)
1g.229432584C>TCA423755068ACTA1c.426G>A (p.Leu142=)
c.291G>A (p.Leu97=)
 gnomAD v4
1g.229432585A=CA1226125888ACTA1c.425T= (p.Leu142=)
c.290T= (p.Leu97=)
1g.229432585A>CCA345149205ACTA1c.425T>G (p.Leu142Arg)
c.290T>G (p.Leu97Arg)
 ClinVar dbSNP
1g.229432585A>GCA345149206ACTA1c.425T>C (p.Leu142Pro)
c.290T>C (p.Leu97Pro)
 ClinVar dbSNP
1g.229432585A>TCA345149208ACTA1c.425T>A (p.Leu142Gln)
c.290T>A (p.Leu97Gln)
1g.229432586G>ACA423755071ACTA1c.424C>T (p.Leu142=)
c.289C>T (p.Leu97=)
1g.229432586G>CCA345149211ACTA1c.424C>G (p.Leu142Val)
c.289C>G (p.Leu97Val)
1g.229432586G>TCA345149214ACTA1c.424C>A (p.Leu142Met)
c.289C>A (p.Leu97Met)
1g.229432587C>ACA423755072ACTA1c.423G>T (p.Val141=)
c.288G>T (p.Val96=)
 dbSNP
1g.229432587C=CA1146199362ACTA1c.423G= (p.Val141=)
c.288G= (p.Val96=)
1g.229432587C>GCA423755073ACTA1c.423G>C (p.Val141=)
c.288G>C (p.Val96=)
1g.229432587C>TCA1442885ACTA1c.423G>A (p.Val141=)
c.288G>A (p.Val96=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432588A>CCA345149222ACTA1c.422T>G (p.Val141Gly)
c.287T>G (p.Val96Gly)
1g.229432588A>GCA345149229ACTA1c.422T>C (p.Val141Ala)
c.287T>C (p.Val96Ala)
1g.229432588A>TCA345149220ACTA1c.422T>A (p.Val141Glu)
c.287T>A (p.Val96Glu)
1g.229432589C>ACA345149236ACTA1c.421G>T (p.Val141Leu)
c.286G>T (p.Val96Leu)
1g.229432589C>GCA345149232ACTA1c.421G>C (p.Val141Leu)
c.286G>C (p.Val96Leu)
1g.229432589C>TCA345149234ACTA1c.421G>A (p.Val141Met)
c.286G>A (p.Val96Met)
 gnomAD v4
1g.229432590G>ACA423755074ACTA1c.420C>T (p.Ala140=)
c.285C>T (p.Ala95=)
1g.229432590G>CCA423755076ACTA1c.420C>G (p.Ala140=)
c.285C>G (p.Ala95=)
1g.229432590G=CA1226125889ACTA1c.420C= (p.Ala140=)
c.285C= (p.Ala95=)
1g.229432590G>TCA1442886ACTA1c.420C>A (p.Ala140=)
c.285C>A (p.Ala95=)
 dbSNP ExAC gnomAD v4
1g.229432591G>ACA345149241ACTA1c.419C>T (p.Ala140Val)
c.284C>T (p.Ala95Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432591G>CCA345149244ACTA1c.419C>G (p.Ala140Gly)
c.284C>G (p.Ala95Gly)
 ClinVar dbSNP
1g.229432591G=CA1226125890ACTA1c.419C= (p.Ala140=)
c.284C= (p.Ala95=)
1g.229432591G>TCA345149246ACTA1c.419C>A (p.Ala140Asp)
c.284C>A (p.Ala95Asp)
 ClinVar dbSNP
1g.229432592C>ACA345149254ACTA1c.418G>T (p.Ala140Ser)
c.283G>T (p.Ala95Ser)
1g.229432592C>GCA345149248ACTA1c.418G>C (p.Ala140Pro)
c.283G>C (p.Ala95Pro)
1g.229432592C>TCA345149250ACTA1c.418G>A (p.Ala140Thr)
c.283G>A (p.Ala95Thr)
1g.229432593C>ACA345149256ACTA1c.417G>T (p.Gln139His)
c.282G>T (p.Gln94His)
1g.229432593C>GCA345149259ACTA1c.417G>C (p.Gln139His)
c.282G>C (p.Gln94His)
1g.229432593C>TCA423755080ACTA1c.417G>A (p.Gln139=)
c.282G>A (p.Gln94=)
1g.229432594T>ACA345149261ACTA1c.416A>T (p.Gln139Leu)
c.281A>T (p.Gln94Leu)
1g.229432594T>CCA345149263ACTA1c.416A>G (p.Gln139Arg)
c.281A>G (p.Gln94Arg)
1g.229432594T>GCA345149265ACTA1c.416A>C (p.Gln139Pro)
c.281A>C (p.Gln94Pro)
1g.229432595G>ACA345149270ACTA1c.415C>T (p.Gln139Ter)
c.280C>T (p.Gln94Ter)
1g.229432595G>CCA345149273ACTA1c.415C>G (p.Gln139Glu)
c.280C>G (p.Gln94Glu)
1g.229432595G>TCA345149271ACTA1c.415C>A (p.Gln139Lys)
c.280C>A (p.Gln94Lys)
1g.229432596G>ACA423755082ACTA1c.414C>T (p.Ile138=)
c.279C>T (p.Ile93=)
 gnomAD v4 COSMIC
1g.229432596G>CCA258142ACTA1c.414C>G (p.Ile138Met)
c.279C>G (p.Ile93Met)
 ClinVar dbSNP
1g.229432596G=CA1141581378ACTA1c.414C= (p.Ile138=)
c.279C= (p.Ile93=)
1g.229432596G>TCA423755084ACTA1c.414C>A (p.Ile138=)
c.279C>A (p.Ile93=)
 COSMIC
1g.229432597A=CA1148225034ACTA1c.413T= (p.Ile138=)
c.278T= (p.Ile93=)
1g.229432597A>CCA345149277ACTA1c.413T>G (p.Ile138Ser)
c.278T>G (p.Ile93Ser)
1g.229432597A>GCA345149278ACTA1c.413T>C (p.Ile138Thr)
c.278T>C (p.Ile93Thr)
1g.229432597A>TCA151568ACTA1c.413T>A (p.Ile138Asn)
c.278T>A (p.Ile93Asn)
 ClinVar dbSNP
1g.229432598T>ACA345149281ACTA1c.412A>T (p.Ile138Phe)
c.277A>T (p.Ile93Phe)
1g.229432598T>CCA345149282ACTA1c.412A>G (p.Ile138Val)
c.277A>G (p.Ile93Val)
1g.229432598T>GCA345149283ACTA1c.412A>C (p.Ile138Leu)
c.277A>C (p.Ile93Leu)
1g.229432599G>ACA423755086ACTA1c.411C>T (p.Ala137=)
c.276C>T (p.Ala92=)
1g.229432599G>CCA423755087ACTA1c.411C>G (p.Ala137=)
c.276C>G (p.Ala92=)
1g.229432599G>TCA423755088ACTA1c.411C>A (p.Ala137=)
c.276C>A (p.Ala92=)
1g.229432600G>ACA345149291ACTA1c.410C>T (p.Ala137Val)
c.275C>T (p.Ala92Val)
1g.229432600G>CCA345149292ACTA1c.410C>G (p.Ala137Gly)
c.275C>G (p.Ala92Gly)
1g.229432600G>TCA345149295ACTA1c.410C>A (p.Ala137Asp)
c.275C>A (p.Ala92Asp)
 ClinVar
1g.229432601C>ACA345149303ACTA1c.409G>T (p.Ala137Ser)
c.274G>T (p.Ala92Ser)
1g.229432601C>GCA345149300ACTA1c.409G>C (p.Ala137Pro)
c.274G>C (p.Ala92Pro)
1g.229432601C>TCA345149299ACTA1c.409G>A (p.Ala137Thr)
c.274G>A (p.Ala92Thr)
 gnomAD v4
1g.229432602C>ACA423755090ACTA1c.408G>T (p.Val136=)
c.273G>T (p.Val91=)
1g.229432602C=CA1226125891ACTA1c.408G= (p.Val136=)
c.273G= (p.Val91=)
1g.229432602C>GCA423755091ACTA1c.408G>C (p.Val136=)
c.273G>C (p.Val91=)
1g.229432602C>TCA423755092ACTA1c.408G>A (p.Val136=)
c.273G>A (p.Val91=)
 dbSNP COSMIC
1g.229432603A>CCA345149307ACTA1c.407T>G (p.Val136Gly)
c.272T>G (p.Val91Gly)
1g.229432603A>GCA345149309ACTA1c.407T>C (p.Val136Ala)
c.272T>C (p.Val91Ala)
 ClinVar
1g.229432603A>TCA345149311ACTA1c.407T>A (p.Val136Glu)
c.272T>A (p.Val91Glu)
1g.229432604C>ACA345149314ACTA1c.406G>T (p.Val136Leu)
c.271G>T (p.Val91Leu)
 gnomAD v4
1g.229432604C>GCA345149316ACTA1c.406G>C (p.Val136Leu)
c.271G>C (p.Val91Leu)
1g.229432604C>TCA345149318ACTA1c.406G>A (p.Val136Met)
c.271G>A (p.Val91Met)
 gnomAD v4 COSMIC
1g.229432605G>ACA38816275ACTA1c.405C>T (p.Tyr135=)
c.270C>T (p.Tyr90=)
 ClinVar dbSNP gnomAD v4
1g.229432605G>CCA345149323ACTA1c.405C>G (p.Tyr135Ter)
c.270C>G (p.Tyr90Ter)
1g.229432605G=CA1226125892ACTA1c.405C= (p.Tyr135=)
c.270C= (p.Tyr90=)
1g.229432605G>TCA345149321ACTA1c.405C>A (p.Tyr135Ter)
c.270C>A (p.Tyr90Ter)
1g.229432606T>ACA345149328ACTA1c.404A>T (p.Tyr135Phe)
c.269A>T (p.Tyr90Phe)
1g.229432606T>CCA345149330ACTA1c.404A>G (p.Tyr135Cys)
c.269A>G (p.Tyr90Cys)
1g.229432606T>GCA345149336ACTA1c.404A>C (p.Tyr135Ser)
c.269A>C (p.Tyr90Ser)
1g.229432607A>CCA345149341ACTA1c.403T>G (p.Tyr135Asp)
c.268T>G (p.Tyr90Asp)
1g.229432607A>GCA345149343ACTA1c.403T>C (p.Tyr135His)
c.268T>C (p.Tyr90His)
1g.229432607A>TCA345149347ACTA1c.403T>A (p.Tyr135Asn)
c.268T>A (p.Tyr90Asn)
1g.229432608C>ACA345149349ACTA1c.402G>T (p.Met134Ile)
c.267G>T (p.Met89Ile)
 ClinVar dbSNP
1g.229432608C=CA1226125893ACTA1c.402G= (p.Met134=)
c.267G= (p.Met89=)
1g.229432608C>GCA345149356ACTA1c.402G>C (p.Met134Ile)
c.267G>C (p.Met89Ile)
1g.229432608C>TCA345149353ACTA1c.402G>A (p.Met134Ile)
c.267G>A (p.Met89Ile)
 ClinVar dbSNP
1g.229432609A=CA1226125894ACTA1c.401T= (p.Met134=)
c.266T= (p.Met89=)
1g.229432609A>CCA1442887ACTA1c.401T>G (p.Met134Arg)
c.266T>G (p.Met89Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432609A>GCA345149366ACTA1c.401T>C (p.Met134Thr)
c.266T>C (p.Met89Thr)
 COSMIC
1g.229432609A>TCA345149372ACTA1c.401T>A (p.Met134Lys)
c.266T>A (p.Met89Lys)
1g.229432610delCA2573132023ACTA1c.400del (p.Met134CysfsTer?)
c.265del (p.Met89CysfsTer?)
c.400del (p.Met134CysfsTer29)
 ClinVar dbSNP gnomAD v4
1g.229432610T>ACA345149375ACTA1c.400A>T (p.Met134Leu)
c.265A>T (p.Met89Leu)
1g.229432610T>CCA345149376ACTA1c.400A>G (p.Met134Val)
c.265A>G (p.Met89Val)
 ClinVar dbSNP
1g.229432610T>GCA345149381ACTA1c.400A>C (p.Met134Leu)
c.265A>C (p.Met89Leu)
1g.229432610T=CA1226125895ACTA1c.400A= (p.Met134=)
c.265A= (p.Met89=)
1g.229432611G>ACA423755105ACTA1c.399C>T (p.Ala133=)
c.264C>T (p.Ala88=)
 dbSNP
1g.229432611G>CCA423755106ACTA1c.399C>G (p.Ala133=)
c.264C>G (p.Ala88=)
1g.229432611G=CA1226125896ACTA1c.399C= (p.Ala133=)
c.264C= (p.Ala88=)
1g.229432611G>TCA423755107ACTA1c.399C>A (p.Ala133=)
c.264C>A (p.Ala88=)
 dbSNP gnomAD v2 gnomAD v4
1g.229432612G>ACA345149385ACTA1c.398C>T (p.Ala133Val)
c.263C>T (p.Ala88Val)
1g.229432612G>CCA345149387ACTA1c.398C>G (p.Ala133Gly)
c.263C>G (p.Ala88Gly)
1g.229432612G>TCA345149390ACTA1c.398C>A (p.Ala133Asp)
c.263C>A (p.Ala88Asp)
1g.229432613C>ACA345149393ACTA1c.397G>T (p.Ala133Ser)
c.262G>T (p.Ala88Ser)
 gnomAD v4
1g.229432613C>GCA345149394ACTA1c.397G>C (p.Ala133Pro)
c.262G>C (p.Ala88Pro)
1g.229432613C>TCA345149397ACTA1c.397G>A (p.Ala133Thr)
c.262G>A (p.Ala88Thr)
 gnomAD v4
1g.229432614G>ACA1442888ACTA1c.396C>T (p.Pro132=)
c.261C>T (p.Pro87=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432614G>CCA38816294ACTA1c.396C>G (p.Pro132=)
c.261C>G (p.Pro87=)
 dbSNP gnomAD v4
1g.229432614G=CA1149122227ACTA1c.396C= (p.Pro132=)
c.261C= (p.Pro87=)
1g.229432614G>TCA423755110ACTA1c.396C>A (p.Pro132=)
c.261C>A (p.Pro87=)
 gnomAD v4
1g.229432615G>ACA345149403ACTA1c.395C>T (p.Pro132Leu)
c.260C>T (p.Pro87Leu)
1g.229432615G>CCA345149407ACTA1c.395C>G (p.Pro132Arg)
c.260C>G (p.Pro87Arg)
 gnomAD v4
1g.229432615G>TCA345149405ACTA1c.395C>A (p.Pro132His)
c.260C>A (p.Pro87His)
1g.229432616G>ACA345149410ACTA1c.394C>T (p.Pro132Ser)
c.259C>T (p.Pro87Ser)
 dbSNP gnomAD v2
1g.229432616G>CCA345149413ACTA1c.394C>G (p.Pro132Ala)
c.259C>G (p.Pro87Ala)
1g.229432616G=CA1226125897ACTA1c.394C= (p.Pro132=)
c.259C= (p.Pro87=)
1g.229432616G>TCA345149416ACTA1c.394C>A (p.Pro132Thr)
c.259C>A (p.Pro87Thr)
1g.229432617delCA2586968417ACTA1c.393del (p.Ala133ProfsTer?)
c.258del (p.Ala88ProfsTer?)
1g.229432617C>ACA38816316ACTA1c.393G>T (p.Val131=)
c.258G>T (p.Val86=)
 dbSNP
1g.229432617C=CA1226125898ACTA1c.393G= (p.Val131=)
c.258G= (p.Val86=)
1g.229432617C>GCA423755111ACTA1c.393G>C (p.Val131=)
c.258G>C (p.Val86=)
1g.229432617C>TCA423755113ACTA1c.393G>A (p.Val131=)
c.258G>A (p.Val86=)
1g.229432618A>CCA345149422ACTA1c.392T>G (p.Val131Gly)
c.257T>G (p.Val86Gly)
1g.229432618A>GCA345149425ACTA1c.392T>C (p.Val131Ala)
c.257T>C (p.Val86Ala)
 gnomAD v4
1g.229432618A>TCA345149428ACTA1c.392T>A (p.Val131Glu)
c.257T>A (p.Val86Glu)
1g.229432619C>ACA345149432ACTA1c.391G>T (p.Val131Leu)
c.256G>T (p.Val86Leu)
1g.229432619C=CA1226125899ACTA1c.391G= (p.Val131=)
c.256G= (p.Val86=)
1g.229432619C>GCA345149434ACTA1c.391G>C (p.Val131Leu)
c.256G>C (p.Val86Leu)
1g.229432619C>TCA345149435ACTA1c.391G>A (p.Val131Met)
c.256G>A (p.Val86Met)
 ClinVar dbSNP gnomAD v4
1g.229432620G>ACA423755119ACTA1c.390C>T (p.Asn130=)
c.255C>T (p.Asn85=)
 ClinVar dbSNP
1g.229432620G>CCA345149436ACTA1c.390C>G (p.Asn130Lys)
c.255C>G (p.Asn85Lys)
1g.229432620G=CA1226125900ACTA1c.390C= (p.Asn130=)
c.255C= (p.Asn85=)
1g.229432620G>TCA345149437ACTA1c.390C>A (p.Asn130Lys)
c.255C>A (p.Asn85Lys)
1g.229432621T>ACA345149439ACTA1c.389A>T (p.Asn130Ile)
c.254A>T (p.Asn85Ile)
1g.229432621T>CCA1442889ACTA1c.389A>G (p.Asn130Ser)
c.254A>G (p.Asn85Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432621T>GCA345149438ACTA1c.389A>C (p.Asn130Thr)
c.254A>C (p.Asn85Thr)
1g.229432621T=CA1226125901ACTA1c.389A= (p.Asn130=)
c.254A= (p.Asn85=)
1g.229432622T>ACA345149440ACTA1c.388A>T (p.Asn130Tyr)
c.253A>T (p.Asn85Tyr)
1g.229432622T>CCA345149442ACTA1c.388A>G (p.Asn130Asp)
c.253A>G (p.Asn85Asp)
1g.229432622T>GCA345149443ACTA1c.388A>C (p.Asn130His)
c.253A>C (p.Asn85His)
1g.229432623G>ACA423755126ACTA1c.387C>T (p.Phe129=)
c.252C>T (p.Phe84=)
 dbSNP
1g.229432623G>CCA345149446ACTA1c.387C>G (p.Phe129Leu)
c.252C>G (p.Phe84Leu)
1g.229432623G=CA1226125902ACTA1c.387C= (p.Phe129=)
c.252C= (p.Phe84=)
1g.229432623G>TCA345149449ACTA1c.387C>A (p.Phe129Leu)
c.252C>A (p.Phe84Leu)
1g.229432624A>CCA345149456ACTA1c.386T>G (p.Phe129Cys)
c.251T>G (p.Phe84Cys)
1g.229432624A>GCA345149457ACTA1c.386T>C (p.Phe129Ser)
c.251T>C (p.Phe84Ser)
1g.229432624A>TCA345149458ACTA1c.386T>A (p.Phe129Tyr)
c.251T>A (p.Phe84Tyr)
1g.229432625A>CCA345149461ACTA1c.385T>G (p.Phe129Val)
c.250T>G (p.Phe84Val)
1g.229432625A>GCA345149464ACTA1c.385T>C (p.Phe129Leu)
c.250T>C (p.Phe84Leu)
1g.229432625A>TCA345149465ACTA1c.385T>A (p.Phe129Ile)
c.250T>A (p.Phe84Ile)
1g.229432626G>ACA423755128ACTA1c.384C>T (p.Thr128=)
c.249C>T (p.Thr83=)
1g.229432626G>CCA423755130ACTA1c.384C>G (p.Thr128=)
c.249C>G (p.Thr83=)
1g.229432626G>TCA423755132ACTA1c.384C>A (p.Thr128=)
c.249C>A (p.Thr83=)
1g.229432627G>ACA345149470ACTA1c.383C>T (p.Thr128Ile)
c.248C>T (p.Thr83Ile)
1g.229432627G>CCA345149468ACTA1c.383C>G (p.Thr128Ser)
c.248C>G (p.Thr83Ser)
1g.229432627G>TCA345149467ACTA1c.383C>A (p.Thr128Asn)
c.248C>A (p.Thr83Asn)
1g.229432628T>ACA345149481ACTA1c.382A>T (p.Thr128Ser)
c.247A>T (p.Thr83Ser)
1g.229432628T>CCA345149472ACTA1c.382A>G (p.Thr128Ala)
c.247A>G (p.Thr83Ala)
1g.229432628T>GCA345149474ACTA1c.382A>C (p.Thr128Pro)
c.247A>C (p.Thr83Pro)
1g.229432629C>ACA345149482ACTA1c.381G>T (p.Glu127Asp)
c.246G>T (p.Glu82Asp)
1g.229432629C>GCA345149483ACTA1c.381G>C (p.Glu127Asp)
c.246G>C (p.Glu82Asp)
1g.229432629C>TCA423755139ACTA1c.381G>A (p.Glu127=)
c.246G>A (p.Glu82=)
1g.229432630T>ACA345149484ACTA1c.380A>T (p.Glu127Val)
c.245A>T (p.Glu82Val)
1g.229432630T>CCA345149485ACTA1c.380A>G (p.Glu127Gly)
c.245A>G (p.Glu82Gly)
1g.229432630T>GCA345149486ACTA1c.380A>C (p.Glu127Ala)
c.245A>C (p.Glu82Ala)
1g.229432631C>ACA345149489ACTA1c.379G>T (p.Glu127Ter)
c.244G>T (p.Glu82Ter)
1g.229432631C>GCA345149491ACTA1c.379G>C (p.Glu127Gln)
c.244G>C (p.Glu82Gln)
1g.229432631C>TCA345149498ACTA1c.379G>A (p.Glu127Lys)
c.244G>A (p.Glu82Lys)
1g.229432631_229432632delinsCACA1226125903ACTA1c.378_379delinsTG (p.Phe126=)
c.243_244delinsTG (p.Phe81=)
1g.229432632A=CA1143560129ACTA1c.378T= (p.Phe126=)
c.243T= (p.Phe81=)
1g.229432632A>CCA345149502ACTA1c.378T>G (p.Phe126Leu)
c.243T>G (p.Phe81Leu)
1g.229432632A>GCA38816322ACTA1c.378T>C (p.Phe126=)
c.243T>C (p.Phe81=)
 dbSNP
1g.229432632A>TCA345149507ACTA1c.378T>A (p.Phe126Leu)
c.243T>A (p.Phe81Leu)
1g.229432634delCA529915287ACTA1c.378del (p.Phe126LeufsTer?)
c.243del (p.Phe81LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.229432633A>CCA345149515ACTA1c.377T>G (p.Phe126Cys)
c.242T>G (p.Phe81Cys)
1g.229432633A>GCA345149510ACTA1c.377T>C (p.Phe126Ser)
c.242T>C (p.Phe81Ser)
1g.229432633A>TCA345149513ACTA1c.377T>A (p.Phe126Tyr)
c.242T>A (p.Phe81Tyr)
 gnomAD v4
1g.229432634A>CCA345149519ACTA1c.376T>G (p.Phe126Val)
c.241T>G (p.Phe81Val)
1g.229432634A>GCA345149521ACTA1c.376T>C (p.Phe126Leu)
c.241T>C (p.Phe81Leu)
1g.229432634A>TCA345149529ACTA1c.376T>A (p.Phe126Ile)
c.241T>A (p.Phe81Ile)
1g.229432635C>ACA345149531ACTA1c.375G>T (p.Met125Ile)
c.240G>T (p.Met80Ile)
1g.229432635C>GCA345149533ACTA1c.375G>C (p.Met125Ile)
c.240G>C (p.Met80Ile)
1g.229432635C>TCA345149536ACTA1c.375G>A (p.Met125Ile)
c.240G>A (p.Met80Ile)
1g.229432636A>CCA345149538ACTA1c.374T>G (p.Met125Arg)
c.239T>G (p.Met80Arg)
1g.229432636A>GCA345149541ACTA1c.374T>C (p.Met125Thr)
c.239T>C (p.Met80Thr)
 gnomAD v4
1g.229432636A>TCA345149543ACTA1c.374T>A (p.Met125Lys)
c.239T>A (p.Met80Lys)
1g.229432637T>ACA345149559ACTA1c.373A>T (p.Met125Leu)
c.238A>T (p.Met80Leu)
1g.229432637T>CCA345149562ACTA1c.373A>G (p.Met125Val)
c.238A>G (p.Met80Val)
1g.229432637T>GCA345149570ACTA1c.373A>C (p.Met125Leu)
c.238A>C (p.Met80Leu)
1g.229432638G>ACA423755150ACTA1c.372C>T (p.Ile124=)
c.237C>T (p.Ile79=)
1g.229432638G>CCA345149572ACTA1c.372C>G (p.Ile124Met)
c.237C>G (p.Ile79Met)
1g.229432638G>TCA423755151ACTA1c.372C>A (p.Ile124=)
c.237C>A (p.Ile79=)
1g.229432639A>CCA345149576ACTA1c.371T>G (p.Ile124Ser)
c.236T>G (p.Ile79Ser)
1g.229432639A>GCA345149577ACTA1c.371T>C (p.Ile124Thr)
c.236T>C (p.Ile79Thr)
1g.229432639A>TCA345149575ACTA1c.371T>A (p.Ile124Asn)
c.236T>A (p.Ile79Asn)

Number of alleles fetched