Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431642_229431720delinsTCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCA1226125416ACTA1c.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA (n.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA)
c.855+1_856delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA
c.621+1_622delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA
c.990+1_991delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA
1g.229431645_229431722delCA529915258ACTA1c.990+1_991-79del
c.855+1_856-1del
c.621+1_622-1del
c.990+1_991-1del
 dbSNP gnomAD v2 gnomAD v4
1g.229431673_229431689delCA2650926584ACTA1c.990+35_990+51del (n.990+35_990+51del)
c.855+35_856-28del (n.855+35_856-28del)
c.621+35_622-28del (n.621+35_622-28del)
c.990+35_991-28del (n.990+35_991-28del)
 gnomAD v4
1g.229431688C>ACA2650926592ACTA1c.990+33G>T (n.990+33G>T)
c.855+33G>T (n.855+33G>T)
c.621+33G>T (n.621+33G>T)
 gnomAD v4
1g.229431688C=CA1226125448ACTA1c.990+33G= (n.990+33G=)
c.855+33G= (n.855+33G=)
c.621+33G= (n.621+33G=)
1g.229431688C>TCA38814973ACTA1c.990+33G>A (n.990+33G>A)
c.855+33G>A (n.855+33G>A)
c.621+33G>A (n.621+33G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431689C=CA1226125449ACTA1c.990+32G= (n.990+32G=)
c.855+32G= (n.855+32G=)
c.621+32G= (n.621+32G=)
1g.229431689C>GCA2650926593ACTA1c.990+32G>C (n.990+32G>C)
c.855+32G>C (n.855+32G>C)
c.621+32G>C (n.621+32G>C)
 gnomAD v4
1g.229431689C>TCA732579500ACTA1c.990+32G>A (n.990+32G>A)
c.855+32G>A (n.855+32G>A)
c.621+32G>A (n.621+32G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229431691C=CA1226125450ACTA1c.990+30G= (n.990+30G=)
c.855+30G= (n.855+30G=)
c.621+30G= (n.621+30G=)
1g.229431691C>GCA2650926594ACTA1c.990+30G>C (n.990+30G>C)
c.855+30G>C (n.855+30G>C)
c.621+30G>C (n.621+30G>C)
 gnomAD v4
1g.229431691C>TCA529915283ACTA1c.990+30G>A (n.990+30G>A)
c.855+30G>A (n.855+30G>A)
c.621+30G>A (n.621+30G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229431691_229431692insAAACACACA2748068625ACTA1c.990+29_990+30insTGTGTTT (n.990+29_990+30insTGTGTTT)
c.855+29_855+30insTGTGTTT (n.855+29_855+30insTGTGTTT)
c.621+29_621+30insTGTGTTT (n.621+29_621+30insTGTGTTT)
1g.229431692G>CCA2748068626ACTA1c.990+29C>G (n.990+29C>G)
c.855+29C>G (n.855+29C>G)
c.621+29C>G (n.621+29C>G)
1g.229431693C=CA1226125451ACTA1c.990+28G= (n.990+28G=)
c.855+28G= (n.855+28G=)
c.621+28G= (n.621+28G=)
1g.229431693C>GCA1442738ACTA1c.990+28G>C (n.990+28G>C)
c.855+28G>C (n.855+28G>C)
c.621+28G>C (n.621+28G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431695G>ACA1442739ACTA1c.990+26C>T (n.990+26C>T)
c.855+26C>T (n.855+26C>T)
c.621+26C>T (n.621+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431695G>CCA529915284ACTA1c.990+26C>G (n.990+26C>G)
c.855+26C>G (n.855+26C>G)
c.621+26C>G (n.621+26C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.229431695G=CA1143499562ACTA1c.990+26C= (n.990+26C=)
c.855+26C= (n.855+26C=)
c.621+26C= (n.621+26C=)
1g.229431695G>TCA1226125452ACTA1c.990+26C>A (n.990+26C>A)
c.855+26C>A (n.855+26C>A)
c.621+26C>A (n.621+26C>A)
 dbSNP gnomAD v4
1g.229431700C=CA1144880123ACTA1c.990+21G= (n.990+21G=)
c.855+21G= (n.855+21G=)
c.621+21G= (n.621+21G=)
1g.229431700C>TCA38814987ACTA1c.990+21G>A (n.990+21G>A)
c.855+21G>A (n.855+21G>A)
c.621+21G>A (n.621+21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431701C=CA1226125453ACTA1c.990+20G= (n.990+20G=)
c.855+20G= (n.855+20G=)
c.621+20G= (n.621+20G=)
1g.229431701C>GCA1442740ACTA1c.990+20G>C (n.990+20G>C)
c.855+20G>C (n.855+20G>C)
c.621+20G>C (n.621+20G>C)
 dbSNP ExAC gnomAD v2
1g.229431702C=CA1226125454ACTA1c.990+19G= (n.990+19G=)
c.855+19G= (n.855+19G=)
c.621+19G= (n.621+19G=)
1g.229431702C>GCA1442741ACTA1c.990+19G>C (n.990+19G>C)
c.855+19G>C (n.855+19G>C)
c.621+19G>C (n.621+19G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431702C>TCA1226125455ACTA1c.990+19G>A (n.990+19G>A)
c.855+19G>A (n.855+19G>A)
c.621+19G>A (n.621+19G>A)
 dbSNP
1g.229431703G=CA1226125456ACTA1c.990+18C= (n.990+18C=)
c.855+18C= (n.855+18C=)
c.621+18C= (n.621+18C=)
1g.229431703G>TCA1226125457ACTA1c.990+18C>A (n.990+18C>A)
c.855+18C>A (n.855+18C>A)
c.621+18C>A (n.621+18C>A)
 dbSNP gnomAD v4
1g.229431704C=CA1143599819ACTA1c.990+17G= (n.990+17G=)
c.855+17G= (n.855+17G=)
c.621+17G= (n.621+17G=)
1g.229431704C>GCA1442742ACTA1c.990+17G>C (n.990+17G>C)
c.855+17G>C (n.855+17G>C)
c.621+17G>C (n.621+17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431704C>TCA1442743ACTA1c.990+17G>A (n.990+17G>A)
c.855+17G>A (n.855+17G>A)
c.621+17G>A (n.621+17G>A)
 dbSNP ExAC gnomAD v4
1g.229431705G=CA1226125458ACTA1c.990+16C= (n.990+16C=)
c.855+16C= (n.855+16C=)
c.621+16C= (n.621+16C=)
1g.229431705G>TCA529915285ACTA1c.990+16C>A (n.990+16C>A)
c.855+16C>A (n.855+16C>A)
c.621+16C>A (n.621+16C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431706C>TCA2574151191ACTA1c.990+15G>A (n.990+15G>A)
c.855+15G>A (n.855+15G>A)
c.621+15G>A (n.621+15G>A)
1g.229431709G>ACA1442744ACTA1c.990+12C>T (n.990+12C>T)
c.855+12C>T (n.855+12C>T)
c.621+12C>T (n.621+12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431709G=CA1226125459ACTA1c.990+12C= (n.990+12C=)
c.855+12C= (n.855+12C=)
c.621+12C= (n.621+12C=)
1g.229431709G>TCA1226125460ACTA1c.990+12C>A (n.990+12C>A)
c.855+12C>A (n.855+12C>A)
c.621+12C>A (n.621+12C>A)
 dbSNP gnomAD v4
1g.229431710C=CA1226125461ACTA1c.990+11G= (n.990+11G=)
c.855+11G= (n.855+11G=)
c.621+11G= (n.621+11G=)
1g.229431710C>TCA38815019ACTA1c.990+11G>A (n.990+11G>A)
c.855+11G>A (n.855+11G>A)
c.621+11G>A (n.621+11G>A)
 dbSNP gnomAD v4
1g.229431715_229431717dupCA2580611238ACTA1c.990+9_990+11dup (n.990+9_990+11dup)
c.855+9_855+11dup (n.855+9_855+11dup)
c.621+9_621+11dup (n.621+9_621+11dup)
 ClinVar dbSNP
1g.229431711C>GCA2697554960ACTA1c.990+10G>C (n.990+10G>C)
c.855+10G>C (n.855+10G>C)
c.621+10G>C (n.621+10G>C)
 ClinVar
1g.229431713C=CA1226125462ACTA1c.990+8G= (n.990+8G=)
c.855+8G= (n.855+8G=)
c.621+8G= (n.621+8G=)
1g.229431713C>TCA529915286ACTA1c.990+8G>A (n.990+8G>A)
c.855+8G>A (n.855+8G>A)
c.621+8G>A (n.621+8G>A)
 dbSNP gnomAD v2
1g.229431715A>GCA2650926595ACTA1c.990+6T>C (n.990+6T>C)
c.855+6T>C (n.855+6T>C)
c.621+6T>C (n.621+6T>C)
 gnomAD v4
1g.229431716C>TCA2650926596ACTA1c.990+5G>A (n.990+5G>A)
c.855+5G>A (n.855+5G>A)
c.621+5G>A (n.621+5G>A)
 gnomAD v4
1g.229431717C=CA1226125463ACTA1c.990+4G= (n.990+4G=)
c.855+4G= (n.855+4G=)
c.621+4G= (n.621+4G=)
1g.229431717C>TCA1226125464ACTA1c.990+4G>A (n.990+4G>A)
c.855+4G>A (n.855+4G>A)
c.621+4G>A (n.621+4G>A)
 dbSNP gnomAD v4
1g.229431718C>ACA1442745ACTA1c.990+3G>T (n.990+3G>T)
c.855+3G>T (n.855+3G>T)
c.621+3G>T (n.621+3G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431718C=CA1145907942ACTA1c.990+3G= (n.990+3G=)
c.855+3G= (n.855+3G=)
c.621+3G= (n.621+3G=)
1g.229431718C>TCA38815029ACTA1c.990+3G>A (n.990+3G>A)
c.855+3G>A (n.855+3G>A)
c.621+3G>A (n.621+3G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229431719A>CCA345145177ACTA1c.990+2T>G (n.990+2T>G)
c.855+2T>G (n.855+2T>G)
c.621+2T>G (n.621+2T>G)
1g.229431719A>GCA345145168ACTA1c.990+2T>C (n.990+2T>C)
c.855+2T>C (n.855+2T>C)
c.621+2T>C (n.621+2T>C)
1g.229431719A>TCA345145173ACTA1c.990+2T>A (n.990+2T>A)
c.855+2T>A (n.855+2T>A)
c.621+2T>A (n.621+2T>A)
 gnomAD v4
1g.229431720C>ACA1442746ACTA1c.990+1G>T (n.990+1G>T)
c.855+1G>T (n.855+1G>T)
c.621+1G>T (n.621+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431720C=CA1143878388ACTA1c.990+1G= (n.990+1G=)
c.855+1G= (n.855+1G=)
c.621+1G= (n.621+1G=)
1g.229431720C>GCA345145186ACTA1c.990+1G>C (n.990+1G>C)
c.855+1G>C (n.855+1G>C)
c.621+1G>C (n.621+1G>C)
1g.229431720C>TCA38815037ACTA1c.990+1G>A (n.990+1G>A)
c.855+1G>A (n.855+1G>A)
c.621+1G>A (n.621+1G>A)
 dbSNP
1g.229431721C>ACA345145192ACTA1c.990G>T (p.Lys330Asn)
c.855G>T (p.Lys285Asn)
c.621G>T (p.Lys207Asn)
1g.229431721C>GCA345145195ACTA1c.990G>C (p.Lys330Asn)
c.855G>C (p.Lys285Asn)
c.621G>C (p.Lys207Asn)
1g.229431721C>TCA423754890ACTA1c.990G>A (p.Lys330=)
c.855G>A (p.Lys285=)
c.621G>A (p.Lys207=)
 COSMIC
1g.229431722T>ACA345145200ACTA1c.989A>T (p.Lys330Met)
c.854A>T (p.Lys285Met)
c.620A>T (p.Lys207Met)
1g.229431722T>CCA345145202ACTA1c.989A>G (p.Lys330Arg)
c.854A>G (p.Lys285Arg)
c.620A>G (p.Lys207Arg)
1g.229431722T>GCA345145205ACTA1c.989A>C (p.Lys330Thr)
c.854A>C (p.Lys285Thr)
c.620A>C (p.Lys207Thr)
1g.229431723_229431726dupCA2580062275ACTA1c.986_989dup (p.Lys330AsnfsTer?)
c.851_854dup (p.Lys285AsnfsTer?)
c.617_620dup (p.Lys207AsnfsTer?)
 ClinVar
1g.229431723T>ACA345145208ACTA1c.988A>T (p.Lys330Ter)
c.853A>T (p.Lys285Ter)
c.619A>T (p.Lys207Ter)
1g.229431723T>CCA345145209ACTA1c.988A>G (p.Lys330Glu)
c.853A>G (p.Lys285Glu)
c.619A>G (p.Lys207Glu)
 COSMIC
1g.229431723T>GCA345145212ACTA1c.988A>C (p.Lys330Gln)
c.853A>C (p.Lys285Gln)
c.619A>C (p.Lys207Gln)
 gnomAD v4
1g.229431724G>ACA423754894ACTA1c.987C>T (p.Ile329=)
c.852C>T (p.Ile284=)
c.618C>T (p.Ile206=)
 gnomAD v4
1g.229431724G>CCA345145219ACTA1c.987C>G (p.Ile329Met)
c.852C>G (p.Ile284Met)
c.618C>G (p.Ile206Met)
1g.229431724G>TCA423754896ACTA1c.987C>A (p.Ile329=)
c.852C>A (p.Ile284=)
c.618C>A (p.Ile206=)
1g.229431725A>CCA345145227ACTA1c.986T>G (p.Ile329Ser)
c.851T>G (p.Ile284Ser)
c.617T>G (p.Ile206Ser)
1g.229431725A>GCA345145230ACTA1c.986T>C (p.Ile329Thr)
c.851T>C (p.Ile284Thr)
c.617T>C (p.Ile206Thr)
 ClinVar
1g.229431725A>TCA345145224ACTA1c.986T>A (p.Ile329Asn)
c.851T>A (p.Ile284Asn)
c.617T>A (p.Ile206Asn)
 gnomAD v4
1g.229431725_229431728delinsATCTCA1226125465ACTA1c.983_986delinsAGAT (p.Lys328=)
c.848_851delinsAGAT (p.Lys283=)
c.614_617delinsAGAT (p.Lys205=)
1g.229431726T>ACA345145242ACTA1c.985A>T (p.Ile329Phe)
c.850A>T (p.Ile284Phe)
c.616A>T (p.Ile206Phe)
1g.229431726T>CCA345145234ACTA1c.985A>G (p.Ile329Val)
c.850A>G (p.Ile284Val)
c.616A>G (p.Ile206Val)
1g.229431726T>GCA345145243ACTA1c.985A>C (p.Ile329Leu)
c.850A>C (p.Ile284Leu)
c.616A>C (p.Ile206Leu)
1g.229431728_229431730delCA1226125466ACTA1c.983_985del (p.Lys328del)
c.848_850del (p.Lys283del)
c.614_616del (p.Lys205del)
 ClinVar dbSNP
1g.229431727C>ACA345145245ACTA1c.984G>T (p.Lys328Asn)
c.849G>T (p.Lys283Asn)
c.615G>T (p.Lys205Asn)
1g.229431727C=CA1144233513ACTA1c.984G= (p.Lys328=)
c.849G= (p.Lys283=)
c.615G= (p.Lys205=)
1g.229431727C>GCA263209ACTA1c.984G>C (p.Lys328Asn)
c.849G>C (p.Lys283Asn)
c.615G>C (p.Lys205Asn)
 ClinVar dbSNP
1g.229431727C>TCA423754898ACTA1c.984G>A (p.Lys328=)
c.849G>A (p.Lys283=)
c.615G>A (p.Lys205=)
 ClinVar dbSNP
1g.229431728T>ACA345145250ACTA1c.983A>T (p.Lys328Met)
c.848A>T (p.Lys283Met)
c.614A>T (p.Lys205Met)
1g.229431728T>CCA345145252ACTA1c.983A>G (p.Lys328Arg)
c.848A>G (p.Lys283Arg)
c.614A>G (p.Lys205Arg)
1g.229431728T>GCA345145259ACTA1c.983A>C (p.Lys328Thr)
c.848A>C (p.Lys283Thr)
c.614A>C (p.Lys205Thr)
1g.229431729T>ACA345145265ACTA1c.982A>T (p.Lys328Ter)
c.847A>T (p.Lys283Ter)
c.613A>T (p.Lys205Ter)
1g.229431729T>CCA345145268ACTA1c.982A>G (p.Lys328Glu)
c.847A>G (p.Lys283Glu)
c.613A>G (p.Lys205Glu)
1g.229431729T>GCA345145271ACTA1c.982A>C (p.Lys328Gln)
c.847A>C (p.Lys283Gln)
c.613A>C (p.Lys205Gln)
1g.229431730C>ACA345145277ACTA1c.981G>T (p.Met327Ile)
c.846G>T (p.Met282Ile)
c.612G>T (p.Met204Ile)
1g.229431730C=CA1226125467ACTA1c.981G= (p.Met327=)
c.846G= (p.Met282=)
c.612G= (p.Met204=)
1g.229431730C>GCA345145281ACTA1c.981G>C (p.Met327Ile)
c.846G>C (p.Met282Ile)
c.612G>C (p.Met204Ile)
 ClinVar dbSNP
1g.229431730C>TCA345145289ACTA1c.981G>A (p.Met327Ile)
c.846G>A (p.Met282Ile)
c.612G>A (p.Met204Ile)
1g.229431731A>CCA345145296ACTA1c.980T>G (p.Met327Arg)
c.845T>G (p.Met282Arg)
c.611T>G (p.Met204Arg)
1g.229431731A>GCA345145291ACTA1c.980T>C (p.Met327Thr)
c.845T>C (p.Met282Thr)
c.611T>C (p.Met204Thr)
1g.229431731A>TCA345145294ACTA1c.980T>A (p.Met327Lys)
c.845T>A (p.Met282Lys)
c.611T>A (p.Met204Lys)
 ClinVar dbSNP
1g.229431732T>ACA345145299ACTA1c.979A>T (p.Met327Leu)
c.844A>T (p.Met282Leu)
c.610A>T (p.Met204Leu)
1g.229431732T>CCA345145303ACTA1c.979A>G (p.Met327Val)
c.844A>G (p.Met282Val)
c.610A>G (p.Met204Val)
 gnomAD v4
1g.229431732T>GCA345145307ACTA1c.979A>C (p.Met327Leu)
c.844A>C (p.Met282Leu)
c.610A>C (p.Met204Leu)
1g.229431732_229431739delinsTGGTGCTGCA1226125468ACTA1c.972_979delinsCAGCACCA (p.Pro324=)
c.837_844delinsCAGCACCA (p.Pro279=)
c.603_610delinsCAGCACCA (p.Pro201=)
1g.229431733G>ACA423754908ACTA1c.978C>T (p.Thr326=)
c.843C>T (p.Thr281=)
c.609C>T (p.Thr203=)
 gnomAD v4
1g.229431733G>CCA423754909ACTA1c.978C>G (p.Thr326=)
c.843C>G (p.Thr281=)
c.609C>G (p.Thr203=)
 gnomAD v4
1g.229431733G=CA1226125469ACTA1c.978C= (p.Thr326=)
c.843C= (p.Thr281=)
c.609C= (p.Thr203=)
1g.229431733G>TCA423754907ACTA1c.978C>A (p.Thr326=)
c.843C>A (p.Thr281=)
c.609C>A (p.Thr203=)
 dbSNP
1g.229431738_229431744delCA916422660ACTA1c.972_978del (p.Ser325Ter)
c.837_843del (p.Ser280Ter)
c.603_609del (p.Ser202Ter)
 dbSNP gnomAD v4
1g.229431734G>ACA345145314ACTA1c.977C>T (p.Thr326Ile)
c.842C>T (p.Thr281Ile)
c.608C>T (p.Thr203Ile)
 dbSNP gnomAD v4
1g.229431734G>CCA345145317ACTA1c.977C>G (p.Thr326Ser)
c.842C>G (p.Thr281Ser)
c.608C>G (p.Thr203Ser)
1g.229431734G=CA1226125470ACTA1c.977C= (p.Thr326=)
c.842C= (p.Thr281=)
c.608C= (p.Thr203=)
1g.229431734G>TCA345145326ACTA1c.977C>A (p.Thr326Asn)
c.842C>A (p.Thr281Asn)
c.608C>A (p.Thr203Asn)
1g.229431735T>ACA345145331ACTA1c.976A>T (p.Thr326Ser)
c.841A>T (p.Thr281Ser)
c.607A>T (p.Thr203Ser)
1g.229431735T>CCA345145334ACTA1c.976A>G (p.Thr326Ala)
c.841A>G (p.Thr281Ala)
c.607A>G (p.Thr203Ala)
 gnomAD v4
1g.229431735T>GCA345145338ACTA1c.976A>C (p.Thr326Pro)
c.841A>C (p.Thr281Pro)
c.607A>C (p.Thr203Pro)
1g.229431736G>ACA423754911ACTA1c.975C>T (p.Ser325=)
c.840C>T (p.Ser280=)
c.606C>T (p.Ser202=)
1g.229431736G>CCA345145344ACTA1c.975C>G (p.Ser325Arg)
c.840C>G (p.Ser280Arg)
c.606C>G (p.Ser202Arg)
1g.229431736G>TCA345145348ACTA1c.975C>A (p.Ser325Arg)
c.840C>A (p.Ser280Arg)
c.606C>A (p.Ser202Arg)
 ClinVar
1g.229431737C>ACA345145355ACTA1c.974G>T (p.Ser325Ile)
c.839G>T (p.Ser280Ile)
c.605G>T (p.Ser202Ile)
1g.229431737C>GCA345145362ACTA1c.974G>C (p.Ser325Thr)
c.839G>C (p.Ser280Thr)
c.605G>C (p.Ser202Thr)
1g.229431737C>TCA345145351ACTA1c.974G>A (p.Ser325Asn)
c.839G>A (p.Ser280Asn)
c.605G>A (p.Ser202Asn)
 gnomAD v4
1g.229431738T>ACA345145364ACTA1c.973A>T (p.Ser325Cys)
c.838A>T (p.Ser280Cys)
c.604A>T (p.Ser202Cys)
 gnomAD v4
1g.229431738T>CCA345145368ACTA1c.973A>G (p.Ser325Gly)
c.838A>G (p.Ser280Gly)
c.604A>G (p.Ser202Gly)
 gnomAD v4
1g.229431738T>GCA345145369ACTA1c.973A>C (p.Ser325Arg)
c.838A>C (p.Ser280Arg)
c.604A>C (p.Ser202Arg)
1g.229431739G>ACA423754913ACTA1c.972C>T (p.Pro324=)
c.837C>T (p.Pro279=)
c.603C>T (p.Pro201=)
1g.229431739G>CCA423754914ACTA1c.972C>G (p.Pro324=)
c.837C>G (p.Pro279=)
c.603C>G (p.Pro201=)
1g.229431739G>TCA423754915ACTA1c.972C>A (p.Pro324=)
c.837C>A (p.Pro279=)
c.603C>A (p.Pro201=)
1g.229431740G>ACA345145370ACTA1c.971C>T (p.Pro324Leu)
c.836C>T (p.Pro279Leu)
c.602C>T (p.Pro201Leu)
1g.229431740G>CCA345145372ACTA1c.971C>G (p.Pro324Arg)
c.836C>G (p.Pro279Arg)
c.602C>G (p.Pro201Arg)
1g.229431740G=CA1226125471ACTA1c.971C= (p.Pro324=)
c.836C= (p.Pro279=)
c.602C= (p.Pro201=)
1g.229431740G>TCA345145375ACTA1c.971C>A (p.Pro324His)
c.836C>A (p.Pro279His)
c.602C>A (p.Pro201His)
 dbSNP
1g.229431741G>ACA345145385ACTA1c.970C>T (p.Pro324Ser)
c.835C>T (p.Pro279Ser)
c.601C>T (p.Pro201Ser)
1g.229431741G>CCA345145388ACTA1c.970C>G (p.Pro324Ala)
c.835C>G (p.Pro279Ala)
c.601C>G (p.Pro201Ala)
1g.229431741G>TCA345145391ACTA1c.970C>A (p.Pro324Thr)
c.835C>A (p.Pro279Thr)
c.601C>A (p.Pro201Thr)
1g.229431742T>ACA423754918ACTA1c.969A>T (p.Ala323=)
c.834A>T (p.Ala278=)
c.600A>T (p.Ala200=)
 dbSNP
1g.229431742T>CCA423754920ACTA1c.969A>G (p.Ala323=)
c.834A>G (p.Ala278=)
c.600A>G (p.Ala200=)
1g.229431742T>GCA423754919ACTA1c.969A>C (p.Ala323=)
c.834A>C (p.Ala278=)
c.600A>C (p.Ala200=)
 dbSNP
1g.229431742T=CA1226125472ACTA1c.969A= (p.Ala323=)
c.834A= (p.Ala278=)
c.600A= (p.Ala200=)
1g.229431742_229431748delinsTGCCAGCCA1226125473ACTA1c.963_969delinsGCTGGCA (p.Ala321=)
c.828_834delinsGCTGGCA (p.Ala276=)
c.594_600delinsGCTGGCA (p.Ala198=)
1g.229431743G>ACA345145394ACTA1c.968C>T (p.Ala323Val)
c.833C>T (p.Ala278Val)
c.599C>T (p.Ala200Val)
1g.229431743G>CCA345145395ACTA1c.968C>G (p.Ala323Gly)
c.833C>G (p.Ala278Gly)
c.599C>G (p.Ala200Gly)
1g.229431743G>TCA345145399ACTA1c.968C>A (p.Ala323Glu)
c.833C>A (p.Ala278Glu)
c.599C>A (p.Ala200Glu)
1g.229431745_229431750delCA658656988ACTA1c.963_968del (p.Leu322_Ala323del)
c.828_833del (p.Leu277_Ala278del)
c.594_599del (p.Leu199_Ala200del)
 ClinVar dbSNP
1g.229431744C>ACA345145413ACTA1c.967G>T (p.Ala323Ser)
c.832G>T (p.Ala278Ser)
c.598G>T (p.Ala200Ser)
1g.229431744C>GCA345145402ACTA1c.967G>C (p.Ala323Pro)
c.832G>C (p.Ala278Pro)
c.598G>C (p.Ala200Pro)
1g.229431744C>TCA345145411ACTA1c.967G>A (p.Ala323Thr)
c.832G>A (p.Ala278Thr)
c.598G>A (p.Ala200Thr)
1g.229431745delCA2574151192ACTA1c.967del (p.Ala323HisfsTer5)
c.832del (p.Ala278HisfsTer5)
c.598del (p.Ala200HisfsTer5)
1g.229431745C>ACA423754921ACTA1c.966G>T (p.Leu322=)
c.831G>T (p.Leu277=)
c.597G>T (p.Leu199=)
1g.229431745C=CA1226125474ACTA1c.966G= (p.Leu322=)
c.831G= (p.Leu277=)
c.597G= (p.Leu199=)
1g.229431745C>GCA1442747ACTA1c.966G>C (p.Leu322=)
c.831G>C (p.Leu277=)
c.597G>C (p.Leu199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431745C>TCA10610293ACTA1c.966G>A (p.Leu322=)
c.831G>A (p.Leu277=)
c.597G>A (p.Leu199=)
 ClinVar dbSNP
1g.229431746A=CA1226125475ACTA1c.965T= (p.Leu322=)
c.830T= (p.Leu277=)
c.596T= (p.Leu199=)
1g.229431746A>CCA345145415ACTA1c.965T>G (p.Leu322Arg)
c.830T>G (p.Leu277Arg)
c.596T>G (p.Leu199Arg)
1g.229431746A>GCA345145416ACTA1c.965T>C (p.Leu322Pro)
c.830T>C (p.Leu277Pro)
c.596T>C (p.Leu199Pro)
1g.229431746A>TCA345145418ACTA1c.965T>A (p.Leu322Gln)
c.830T>A (p.Leu277Gln)
c.596T>A (p.Leu199Gln)
 ClinVar dbSNP
1g.229431747G>ACA423754922ACTA1c.964C>T (p.Leu322=)
c.829C>T (p.Leu277=)
c.595C>T (p.Leu199=)
 gnomAD v4
1g.229431747G>CCA345145422ACTA1c.964C>G (p.Leu322Val)
c.829C>G (p.Leu277Val)
c.595C>G (p.Leu199Val)
 ClinVar dbSNP
1g.229431747G=CA1226125476ACTA1c.964C= (p.Leu322=)
c.829C= (p.Leu277=)
c.595C= (p.Leu199=)
1g.229431747G>TCA345145423ACTA1c.964C>A (p.Leu322Met)
c.829C>A (p.Leu277Met)
c.595C>A (p.Leu199Met)
1g.229431748C>ACA1442750ACTA1c.963G>T (p.Ala321=)
c.828G>T (p.Ala276=)
c.594G>T (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431748C=CA1144004716ACTA1c.963G= (p.Ala321=)
c.828G= (p.Ala276=)
c.594G= (p.Ala198=)
1g.229431748C>GCA1442748ACTA1c.963G>C (p.Ala321=)
c.828G>C (p.Ala276=)
c.594G>C (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431748C>TCA1442749ACTA1c.963G>A (p.Ala321=)
c.828G>A (p.Ala276=)
c.594G>A (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431749G>ACA345145438ACTA1c.962C>T (p.Ala321Val)
c.827C>T (p.Ala276Val)
c.593C>T (p.Ala198Val)
 COSMIC
1g.229431749G>CCA345145442ACTA1c.962C>G (p.Ala321Gly)
c.827C>G (p.Ala276Gly)
c.593C>G (p.Ala198Gly)
1g.229431749G>TCA345145445ACTA1c.962C>A (p.Ala321Glu)
c.827C>A (p.Ala276Glu)
c.593C>A (p.Ala198Glu)
1g.229431750C>ACA345145453ACTA1c.961G>T (p.Ala321Ser)
c.826G>T (p.Ala276Ser)
c.592G>T (p.Ala198Ser)
1g.229431750C>GCA345145455ACTA1c.961G>C (p.Ala321Pro)
c.826G>C (p.Ala276Pro)
c.592G>C (p.Ala198Pro)
1g.229431750C>TCA345145449ACTA1c.961G>A (p.Ala321Thr)
c.826G>A (p.Ala276Thr)
c.592G>A (p.Ala198Thr)
 gnomAD v4 COSMIC
1g.229431751G>ACA423754923ACTA1c.960C>T (p.Thr320=)
c.825C>T (p.Thr275=)
c.591C>T (p.Thr197=)
 ClinVar dbSNP gnomAD v4
1g.229431751G>CCA423754924ACTA1c.960C>G (p.Thr320=)
c.825C>G (p.Thr275=)
c.591C>G (p.Thr197=)
 dbSNP
1g.229431751G=CA1226125477ACTA1c.960C= (p.Thr320=)
c.825C= (p.Thr275=)
c.591C= (p.Thr197=)
1g.229431751G>TCA423754925ACTA1c.960C>A (p.Thr320=)
c.825C>A (p.Thr275=)
c.591C>A (p.Thr197=)
 dbSNP
1g.229431752G>ACA345145463ACTA1c.959C>T (p.Thr320Ile)
c.824C>T (p.Thr275Ile)
c.590C>T (p.Thr197Ile)
1g.229431752G>CCA345145458ACTA1c.959C>G (p.Thr320Ser)
c.824C>G (p.Thr275Ser)
c.590C>G (p.Thr197Ser)
1g.229431752G=CA1226125478ACTA1c.959C= (p.Thr320=)
c.824C= (p.Thr275=)
c.590C= (p.Thr197=)
1g.229431752G>TCA345145461ACTA1c.959C>A (p.Thr320Asn)
c.824C>A (p.Thr275Asn)
c.590C>A (p.Thr197Asn)
1g.229431753T>ACA345145468ACTA1c.958A>T (p.Thr320Ser)
c.823A>T (p.Thr275Ser)
c.589A>T (p.Thr197Ser)
1g.229431753T>CCA345145470ACTA1c.958A>G (p.Thr320Ala)
c.823A>G (p.Thr275Ala)
c.589A>G (p.Thr197Ala)
1g.229431753T>GCA345145472ACTA1c.958A>C (p.Thr320Pro)
c.823A>C (p.Thr275Pro)
c.589A>C (p.Thr197Pro)
1g.229431754_229431756dupCA38815072ACTA1c.956_958dup (p.Ile319_Thr320insIle)
c.821_823dup (p.Ile274_Thr275insIle)
c.587_589dup (p.Ile196_Thr197insIle)
 dbSNP
1g.229431754G>ACA423754927ACTA1c.957C>T (p.Ile319=)
c.822C>T (p.Ile274=)
c.588C>T (p.Ile196=)
1g.229431754G>CCA345145476ACTA1c.957C>G (p.Ile319Met)
c.822C>G (p.Ile274Met)
c.588C>G (p.Ile196Met)
1g.229431754G>TCA423754928ACTA1c.957C>A (p.Ile319=)
c.822C>A (p.Ile274=)
c.588C>A (p.Ile196=)
 gnomAD v4
1g.229431755A>CCA345145487ACTA1c.956T>G (p.Ile319Ser)
c.821T>G (p.Ile274Ser)
c.587T>G (p.Ile196Ser)
1g.229431755A>GCA345145481ACTA1c.956T>C (p.Ile319Thr)
c.821T>C (p.Ile274Thr)
c.587T>C (p.Ile196Thr)
 gnomAD v4
1g.229431755A>TCA345145484ACTA1c.956T>A (p.Ile319Asn)
c.821T>A (p.Ile274Asn)
c.587T>A (p.Ile196Asn)
1g.229431755_229431757delinsATCCA1226125479ACTA1c.954_956delinsGAT (p.Glu318=)
c.819_821delinsGAT (p.Glu273=)
c.585_587delinsGAT (p.Glu195=)
1g.229431756T>ACA345145490ACTA1c.955A>T (p.Ile319Phe)
c.820A>T (p.Ile274Phe)
c.586A>T (p.Ile196Phe)
1g.229431756T>CCA345145492ACTA1c.955A>G (p.Ile319Val)
c.820A>G (p.Ile274Val)
c.586A>G (p.Ile196Val)
1g.229431756T>GCA345145495ACTA1c.955A>C (p.Ile319Leu)
c.820A>C (p.Ile274Leu)
c.586A>C (p.Ile196Leu)
1g.229431759_229431760delCA1226125480ACTA1c.954_955del (p.Glu318AspfsTer?)
c.819_820del (p.Glu273AspfsTer?)
c.585_586del (p.Glu195AspfsTer?)
 dbSNP
1g.229431757C>ACA345145497ACTA1c.954G>T (p.Glu318Asp)
c.819G>T (p.Glu273Asp)
c.585G>T (p.Glu195Asp)
1g.229431757C>GCA345145499ACTA1c.954G>C (p.Glu318Asp)
c.819G>C (p.Glu273Asp)
c.585G>C (p.Glu195Asp)
 ClinVar
1g.229431757C>TCA423754930ACTA1c.954G>A (p.Glu318=)
c.819G>A (p.Glu273=)
c.585G>A (p.Glu195=)
1g.229431758T>ACA345145501ACTA1c.953A>T (p.Glu318Val)
c.818A>T (p.Glu273Val)
c.584A>T (p.Glu195Val)
1g.229431758T>CCA345145505ACTA1c.953A>G (p.Glu318Gly)
c.818A>G (p.Glu273Gly)
c.584A>G (p.Glu195Gly)
1g.229431758T>GCA345145503ACTA1c.953A>C (p.Glu318Ala)
c.818A>C (p.Glu273Ala)
c.584A>C (p.Glu195Ala)
1g.229431759C>ACA345145508ACTA1c.952G>T (p.Glu318Ter)
c.817G>T (p.Glu273Ter)
c.583G>T (p.Glu195Ter)
1g.229431759C=CA1226125481ACTA1c.952G= (p.Glu318=)
c.817G= (p.Glu273=)
c.583G= (p.Glu195=)
1g.229431759C>GCA345145510ACTA1c.952G>C (p.Glu318Gln)
c.817G>C (p.Glu273Gln)
c.583G>C (p.Glu195Gln)
1g.229431759C>TCA345145511ACTA1c.952G>A (p.Glu318Lys)
c.817G>A (p.Glu273Lys)
c.583G>A (p.Glu195Lys)
 dbSNP COSMIC
1g.229431760T>ACA345145514ACTA1c.951A>T (p.Lys317Asn)
c.816A>T (p.Lys272Asn)
c.582A>T (p.Lys194Asn)
1g.229431760T>CCA423754933ACTA1c.951A>G (p.Lys317=)
c.816A>G (p.Lys272=)
c.582A>G (p.Lys194=)
 dbSNP gnomAD v4
1g.229431760T>GCA345145515ACTA1c.951A>C (p.Lys317Asn)
c.816A>C (p.Lys272Asn)
c.582A>C (p.Lys194Asn)
1g.229431760T=CA1226125483ACTA1c.951A= (p.Lys317=)
c.816A= (p.Lys272=)
c.582A= (p.Lys194=)
1g.229431762dupCA1226125482ACTA1c.951dup (p.Glu318ArgfsTer?)
c.816dup (p.Glu273ArgfsTer?)
c.582dup (p.Glu195ArgfsTer?)
 dbSNP
1g.229431761T>ACA345145518ACTA1c.950A>T (p.Lys317Ile)
c.815A>T (p.Lys272Ile)
c.581A>T (p.Lys194Ile)
1g.229431761T>CCA345145520ACTA1c.950A>G (p.Lys317Arg)
c.815A>G (p.Lys272Arg)
c.581A>G (p.Lys194Arg)
1g.229431761T>GCA345145521ACTA1c.950A>C (p.Lys317Thr)
c.815A>C (p.Lys272Thr)
c.581A>C (p.Lys194Thr)
1g.229431762T>ACA345145523ACTA1c.949A>T (p.Lys317Ter)
c.814A>T (p.Lys272Ter)
c.580A>T (p.Lys194Ter)
1g.229431762T>CCA345145524ACTA1c.949A>G (p.Lys317Glu)
c.814A>G (p.Lys272Glu)
c.580A>G (p.Lys194Glu)
1g.229431762T>GCA345145525ACTA1c.949A>C (p.Lys317Gln)
c.814A>C (p.Lys272Gln)
c.580A>C (p.Lys194Gln)
1g.229431763C>ACA345145529ACTA1c.948G>T (p.Gln316His)
c.813G>T (p.Gln271His)
c.579G>T (p.Gln193His)
 gnomAD v4
1g.229431763C=CA1226125484ACTA1c.948G= (p.Gln316=)
c.813G= (p.Gln271=)
c.579G= (p.Gln193=)
1g.229431763C>GCA345145528ACTA1c.948G>C (p.Gln316His)
c.813G>C (p.Gln271His)
c.579G>C (p.Gln193His)
 COSMIC
1g.229431763C>TCA1442751ACTA1c.948G>A (p.Gln316=)
c.813G>A (p.Gln271=)
c.579G>A (p.Gln193=)
 dbSNP ExAC gnomAD v4
1g.229431764T>ACA345145530ACTA1c.947A>T (p.Gln316Leu)
c.812A>T (p.Gln271Leu)
c.578A>T (p.Gln193Leu)
1g.229431764T>CCA345145534ACTA1c.947A>G (p.Gln316Arg)
c.812A>G (p.Gln271Arg)
c.578A>G (p.Gln193Arg)
1g.229431764T>GCA345145532ACTA1c.947A>C (p.Gln316Pro)
c.812A>C (p.Gln271Pro)
c.578A>C (p.Gln193Pro)
1g.229431765G>ACA345145536ACTA1c.946C>T (p.Gln316Ter)
c.811C>T (p.Gln271Ter)
c.577C>T (p.Gln193Ter)
1g.229431765G>CCA345145538ACTA1c.946C>G (p.Gln316Glu)
c.811C>G (p.Gln271Glu)
c.577C>G (p.Gln193Glu)
1g.229431765G>TCA345145540ACTA1c.946C>A (p.Gln316Lys)
c.811C>A (p.Gln271Lys)
c.577C>A (p.Gln193Lys)
1g.229431766C>ACA345145542ACTA1c.945G>T (p.Met315Ile)
c.810G>T (p.Met270Ile)
c.576G>T (p.Met192Ile)
1g.229431766C>GCA345145544ACTA1c.945G>C (p.Met315Ile)
c.810G>C (p.Met270Ile)
c.576G>C (p.Met192Ile)
1g.229431766C>TCA345145546ACTA1c.945G>A (p.Met315Ile)
c.810G>A (p.Met270Ile)
c.576G>A (p.Met192Ile)
 gnomAD v4
1g.229431767A>CCA345145548ACTA1c.944T>G (p.Met315Arg)
c.809T>G (p.Met270Arg)
c.575T>G (p.Met192Arg)
1g.229431767A>GCA345145550ACTA1c.944T>C (p.Met315Thr)
c.809T>C (p.Met270Thr)
c.575T>C (p.Met192Thr)
1g.229431767A>TCA345145552ACTA1c.944T>A (p.Met315Lys)
c.809T>A (p.Met270Lys)
c.575T>A (p.Met192Lys)
1g.229431768T>ACA345145554ACTA1c.943A>T (p.Met315Leu)
c.808A>T (p.Met270Leu)
c.574A>T (p.Met192Leu)
1g.229431768T>CCA345145557ACTA1c.943A>G (p.Met315Val)
c.808A>G (p.Met270Val)
c.574A>G (p.Met192Val)
1g.229431768T>GCA345145558ACTA1c.943A>C (p.Met315Leu)
c.808A>C (p.Met270Leu)
c.574A>C (p.Met192Leu)
1g.229431769G>ACA1442752ACTA1c.942C>T (p.Arg314=)
c.807C>T (p.Arg269=)
c.573C>T (p.Arg191=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431769G>CCA423754945ACTA1c.942C>G (p.Arg314=)
c.807C>G (p.Arg269=)
c.573C>G (p.Arg191=)
1g.229431769G=CA1226125485ACTA1c.942C= (p.Arg314=)
c.807C= (p.Arg269=)
c.573C= (p.Arg191=)
1g.229431769G>TCA423754943ACTA1c.942C>A (p.Arg314=)
c.807C>A (p.Arg269=)
c.573C>A (p.Arg191=)
1g.229431770C>ACA345145563ACTA1c.941G>T (p.Arg314Leu)
c.806G>T (p.Arg269Leu)
c.572G>T (p.Arg191Leu)
 gnomAD v4
1g.229431770C>GCA345145565ACTA1c.941G>C (p.Arg314Pro)
c.806G>C (p.Arg269Pro)
c.572G>C (p.Arg191Pro)
1g.229431770C>TCA345145567ACTA1c.941G>A (p.Arg314His)
c.806G>A (p.Arg269His)
c.572G>A (p.Arg191His)
 COSMIC
1g.229431771G>ACA345145570ACTA1c.940C>T (p.Arg314Cys)
c.805C>T (p.Arg269Cys)
c.571C>T (p.Arg191Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.229431771G>CCA345145571ACTA1c.940C>G (p.Arg314Gly)
c.805C>G (p.Arg269Gly)
c.571C>G (p.Arg191Gly)
1g.229431771G=CA1226125486ACTA1c.940C= (p.Arg314=)
c.805C= (p.Arg269=)
c.571C= (p.Arg191=)
1g.229431771G>TCA345145572ACTA1c.940C>A (p.Arg314Ser)
c.805C>A (p.Arg269Ser)
c.571C>A (p.Arg191Ser)
 gnomAD v4
1g.229431772G>ACA423754953ACTA1c.939C>T (p.Asp313=)
c.804C>T (p.Asp268=)
c.570C>T (p.Asp190=)
1g.229431772G>CCA345145574ACTA1c.939C>G (p.Asp313Glu)
c.804C>G (p.Asp268Glu)
c.570C>G (p.Asp190Glu)
1g.229431772G>TCA345145576ACTA1c.939C>A (p.Asp313Glu)
c.804C>A (p.Asp268Glu)
c.570C>A (p.Asp190Glu)
1g.229431773T>ACA345145579ACTA1c.938A>T (p.Asp313Val)
c.803A>T (p.Asp268Val)
c.569A>T (p.Asp190Val)
1g.229431773T>CCA345145581ACTA1c.938A>G (p.Asp313Gly)
c.803A>G (p.Asp268Gly)
c.569A>G (p.Asp190Gly)
1g.229431773T>GCA345145582ACTA1c.938A>C (p.Asp313Ala)
c.803A>C (p.Asp268Ala)
c.569A>C (p.Asp190Ala)
1g.229431774C>ACA345145585ACTA1c.937G>T (p.Asp313Tyr)
c.802G>T (p.Asp268Tyr)
c.568G>T (p.Asp190Tyr)
1g.229431774C>GCA345145586ACTA1c.937G>C (p.Asp313His)
c.802G>C (p.Asp268His)
c.568G>C (p.Asp190His)
1g.229431774C>TCA345145588ACTA1c.937G>A (p.Asp313Asn)
c.802G>A (p.Asp268Asn)
c.568G>A (p.Asp190Asn)
1g.229431775delCA2574151193ACTA1c.936del (p.Asp313ThrfsTer15)
c.801del (p.Asp268ThrfsTer15)
c.567del (p.Asp190ThrfsTer15)
 ClinVar gnomAD v4
1g.229431775A>CCA423754961ACTA1c.936T>G (p.Ala312=)
c.801T>G (p.Ala267=)
c.567T>G (p.Ala189=)
1g.229431775A>GCA423754962ACTA1c.936T>C (p.Ala312=)
c.801T>C (p.Ala267=)
c.567T>C (p.Ala189=)
 dbSNP
1g.229431775A>TCA423754963ACTA1c.936T>A (p.Ala312=)
c.801T>A (p.Ala267=)
c.567T>A (p.Ala189=)
1g.229431776G>ACA345145593ACTA1c.935C>T (p.Ala312Val)
c.800C>T (p.Ala267Val)
c.566C>T (p.Ala189Val)
1g.229431776G>CCA345145595ACTA1c.935C>G (p.Ala312Gly)
c.800C>G (p.Ala267Gly)
c.566C>G (p.Ala189Gly)
1g.229431776G>TCA345145591ACTA1c.935C>A (p.Ala312Asp)
c.800C>A (p.Ala267Asp)
c.566C>A (p.Ala189Asp)
1g.229431777C>ACA345145599ACTA1c.934G>T (p.Ala312Ser)
c.799G>T (p.Ala267Ser)
c.565G>T (p.Ala189Ser)
1g.229431777C>GCA345145597ACTA1c.934G>C (p.Ala312Pro)
c.799G>C (p.Ala267Pro)
c.565G>C (p.Ala189Pro)
1g.229431777C>TCA345145601ACTA1c.934G>A (p.Ala312Thr)
c.799G>A (p.Ala267Thr)
c.565G>A (p.Ala189Thr)
1g.229431778G>ACA423754966ACTA1c.933C>T (p.Ile311=)
c.798C>T (p.Ile266=)
c.564C>T (p.Ile188=)
 dbSNP gnomAD v4 COSMIC
1g.229431778G>CCA345145603ACTA1c.933C>G (p.Ile311Met)
c.798C>G (p.Ile266Met)
c.564C>G (p.Ile188Met)
 gnomAD v4
1g.229431778G=CA1226125487ACTA1c.933C= (p.Ile311=)
c.798C= (p.Ile266=)
c.564C= (p.Ile188=)
1g.229431778G>TCA423754967ACTA1c.933C>A (p.Ile311=)
c.798C>A (p.Ile266=)
c.564C>A (p.Ile188=)
1g.229431779A>CCA345145609ACTA1c.932T>G (p.Ile311Ser)
c.797T>G (p.Ile266Ser)
c.563T>G (p.Ile188Ser)
1g.229431779A>GCA345145606ACTA1c.932T>C (p.Ile311Thr)
c.797T>C (p.Ile266Thr)
c.563T>C (p.Ile188Thr)
1g.229431779A>TCA345145607ACTA1c.932T>A (p.Ile311Asn)
c.797T>A (p.Ile266Asn)
c.563T>A (p.Ile188Asn)
1g.229431780T>ACA345145612ACTA1c.931A>T (p.Ile311Phe)
c.796A>T (p.Ile266Phe)
c.562A>T (p.Ile188Phe)
1g.229431780T>CCA345145613ACTA1c.931A>G (p.Ile311Val)
c.796A>G (p.Ile266Val)
c.562A>G (p.Ile188Val)
1g.229431780T>GCA345145614ACTA1c.931A>C (p.Ile311Leu)
c.796A>C (p.Ile266Leu)
c.562A>C (p.Ile188Leu)
1g.229431780_229431781delinsTCCA1226125488ACTA1c.930_931delinsGA (p.Gly310=)
c.795_796delinsGA (p.Gly265=)
c.561_562delinsGA (p.Gly187=)
1g.229431781C>ACA423754968ACTA1c.930G>T (p.Gly310=)
c.795G>T (p.Gly265=)
c.561G>T (p.Gly187=)
 dbSNP
1g.229431781C=CA1226125489ACTA1c.930G= (p.Gly310=)
c.795G= (p.Gly265=)
c.561G= (p.Gly187=)
1g.229431781C>GCA423754972ACTA1c.930G>C (p.Gly310=)
c.795G>C (p.Gly265=)
c.561G>C (p.Gly187=)
 dbSNP
1g.229431781C>TCA423754970ACTA1c.930G>A (p.Gly310=)
c.795G>A (p.Gly265=)
c.561G>A (p.Gly187=)
1g.229431783delCA732579654ACTA1c.930del (p.Ile311SerfsTer17)
c.795del (p.Ile266SerfsTer17)
c.561del (p.Ile188SerfsTer17)
 dbSNP gnomAD v3 gnomAD v4
1g.229431782C>ACA345145616ACTA1c.929G>T (p.Gly310Val)
c.794G>T (p.Gly265Val)
c.560G>T (p.Gly187Val)
1g.229431782C>GCA345145618ACTA1c.929G>C (p.Gly310Ala)
c.794G>C (p.Gly265Ala)
c.560G>C (p.Gly187Ala)
1g.229431782C>TCA345145620ACTA1c.929G>A (p.Gly310Glu)
c.794G>A (p.Gly265Glu)
c.560G>A (p.Gly187Glu)
1g.229431783C>ACA345145622ACTA1c.928G>T (p.Gly310Trp)
c.793G>T (p.Gly265Trp)
c.559G>T (p.Gly187Trp)
 COSMIC
1g.229431783C>GCA345145624ACTA1c.928G>C (p.Gly310Arg)
c.793G>C (p.Gly265Arg)
c.559G>C (p.Gly187Arg)
1g.229431783C>TCA345145625ACTA1c.928G>A (p.Gly310Arg)
c.793G>A (p.Gly265Arg)
c.559G>A (p.Gly187Arg)
1g.229431784A=CA1226125490ACTA1c.927T= (p.Pro309=)
c.792T= (p.Pro264=)
c.558T= (p.Pro186=)
1g.229431784A>CCA423754976ACTA1c.927T>G (p.Pro309=)
c.792T>G (p.Pro264=)
c.558T>G (p.Pro186=)
 dbSNP
1g.229431784A>GCA423754978ACTA1c.927T>C (p.Pro309=)
c.792T>C (p.Pro264=)
c.558T>C (p.Pro186=)
 dbSNP gnomAD v4
1g.229431784A>TCA423754977ACTA1c.927T>A (p.Pro309=)
c.792T>A (p.Pro264=)
c.558T>A (p.Pro186=)
 dbSNP
1g.229431785G>ACA345145631ACTA1c.926C>T (p.Pro309Leu)
c.791C>T (p.Pro264Leu)
c.557C>T (p.Pro186Leu)
1g.229431785G>CCA345145627ACTA1c.926C>G (p.Pro309Arg)
c.791C>G (p.Pro264Arg)
c.557C>G (p.Pro186Arg)
1g.229431785G>TCA345145629ACTA1c.926C>A (p.Pro309His)
c.791C>A (p.Pro264His)
c.557C>A (p.Pro186His)
1g.229431787dupCA2574151196ACTA1c.926dup (p.Gly310TrpfsTer4)
c.791dup (p.Gly265TrpfsTer4)
c.557dup (p.Gly187TrpfsTer4)
1g.229431787delCA2650926597ACTA1c.926del (p.Pro309LeufsTer19)
c.791del (p.Pro264LeufsTer19)
c.557del (p.Pro186LeufsTer19)
 gnomAD v4
1g.229431786G>ACA345145633ACTA1c.925C>T (p.Pro309Ser)
c.790C>T (p.Pro264Ser)
c.556C>T (p.Pro186Ser)
 ClinVar
1g.229431786G>CCA345145635ACTA1c.925C>G (p.Pro309Ala)
c.790C>G (p.Pro264Ala)
c.556C>G (p.Pro186Ala)
1g.229431786G>TCA345145637ACTA1c.925C>A (p.Pro309Thr)
c.790C>A (p.Pro264Thr)
c.556C>A (p.Pro186Thr)
1g.229431787G>ACA423754988ACTA1c.924C>T (p.Tyr308=)
c.789C>T (p.Tyr263=)
c.555C>T (p.Tyr185=)
 dbSNP gnomAD v4
1g.229431787G>CCA345145640ACTA1c.924C>G (p.Tyr308Ter)
c.789C>G (p.Tyr263Ter)
c.555C>G (p.Tyr185Ter)
1g.229431787G=CA1226125491ACTA1c.924C= (p.Tyr308=)
c.789C= (p.Tyr263=)
c.555C= (p.Tyr185=)
1g.229431787G>TCA345145642ACTA1c.924C>A (p.Tyr308Ter)
c.789C>A (p.Tyr263Ter)
c.555C>A (p.Tyr185Ter)
 dbSNP
1g.229431788T>ACA345145644ACTA1c.923A>T (p.Tyr308Phe)
c.788A>T (p.Tyr263Phe)
c.554A>T (p.Tyr185Phe)
1g.229431788T>CCA10575963ACTA1c.923A>G (p.Tyr308Cys)
c.788A>G (p.Tyr263Cys)
c.554A>G (p.Tyr185Cys)
 ClinVar dbSNP
1g.229431788T>GCA345145647ACTA1c.923A>C (p.Tyr308Ser)
c.788A>C (p.Tyr263Ser)
c.554A>C (p.Tyr185Ser)
1g.229431788T=CA1226125492ACTA1c.923A= (p.Tyr308=)
c.788A= (p.Tyr263=)
c.554A= (p.Tyr185=)

Number of alleles fetched