Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432079G>ACA1442809ACTA1c.723C>T (p.Ser241=)
c.588C>T (p.Ser196=)
c.480-217C>T (n.480-217C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432079G>CCA345146853ACTA1c.723C>G (p.Ser241Arg)
c.588C>G (p.Ser196Arg)
c.480-217C>G (n.480-217C>G)
1g.229432079G=CA1145367119ACTA1c.723C= (p.Ser241=)
c.588C= (p.Ser196=)
c.480-217C= (n.480-217C=)
1g.229432079G>TCA345146856ACTA1c.723C>A (p.Ser241Arg)
c.588C>A (p.Ser196Arg)
c.480-217C>A (n.480-217C>A)
 ClinVar gnomAD v4
1g.229432080C>ACA345146865ACTA1c.722G>T (p.Ser241Ile)
c.587G>T (p.Ser196Ile)
c.480-218G>T (n.480-218G>T)
1g.229432080C=CA1149146925ACTA1c.722G= (p.Ser241=)
c.587G= (p.Ser196=)
c.480-218G= (n.480-218G=)
1g.229432080C>GCA345146863ACTA1c.722G>C (p.Ser241Thr)
c.587G>C (p.Ser196Thr)
c.480-218G>C (n.480-218G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432080C>TCA1442810ACTA1c.722G>A (p.Ser241Asn)
c.587G>A (p.Ser196Asn)
c.480-218G>A (n.480-218G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432081T>ACA345146868ACTA1c.721A>T (p.Ser241Cys)
c.586A>T (p.Ser196Cys)
c.480-219A>T (n.480-219A>T)
1g.229432081T>CCA345146870ACTA1c.721A>G (p.Ser241Gly)
c.586A>G (p.Ser196Gly)
c.480-219A>G (n.480-219A>G)
1g.229432081T>GCA345146873ACTA1c.721A>C (p.Ser241Arg)
c.586A>C (p.Ser196Arg)
c.480-219A>C (n.480-219A>C)
1g.229432082C>ACA345146875ACTA1c.720G>T (p.Lys240Asn)
c.585G>T (p.Lys195Asn)
c.480-220G>T (n.480-220G>T)
 gnomAD v4
1g.229432082C=CA1226125639ACTA1c.720G= (p.Lys240=)
c.585G= (p.Lys195=)
c.480-220G= (n.480-220G=)
1g.229432082C>GCA345146877ACTA1c.720G>C (p.Lys240Asn)
c.585G>C (p.Lys195Asn)
c.480-220G>C (n.480-220G>C)
1g.229432082C>TCA1442811ACTA1c.720G>A (p.Lys240=)
c.585G>A (p.Lys195=)
c.480-220G>A (n.480-220G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432083T>ACA345146885ACTA1c.719A>T (p.Lys240Met)
c.584A>T (p.Lys195Met)
c.480-221A>T (n.480-221A>T)
1g.229432083T>CCA345146880ACTA1c.719A>G (p.Lys240Arg)
c.584A>G (p.Lys195Arg)
c.480-221A>G (n.480-221A>G)
1g.229432083T>GCA345146883ACTA1c.719A>C (p.Lys240Thr)
c.584A>C (p.Lys195Thr)
c.480-221A>C (n.480-221A>C)
1g.229432084T>ACA345146888ACTA1c.718A>T (p.Lys240Ter)
c.583A>T (p.Lys195Ter)
c.480-222A>T (n.480-222A>T)
1g.229432084T>CCA345146891ACTA1c.718A>G (p.Lys240Glu)
c.583A>G (p.Lys195Glu)
c.480-222A>G (n.480-222A>G)
1g.229432084T>GCA345146894ACTA1c.718A>C (p.Lys240Gln)
c.583A>C (p.Lys195Gln)
c.480-222A>C (n.480-222A>C)
1g.229432085T>ACA345146897ACTA1c.717A>T (p.Glu239Asp)
c.582A>T (p.Glu194Asp)
c.480-223A>T (n.480-223A>T)
1g.229432085T>CCA423755094ACTA1c.717A>G (p.Glu239=)
c.582A>G (p.Glu194=)
c.480-223A>G (n.480-223A>G)
 dbSNP gnomAD v4
1g.229432085T>GCA345146900ACTA1c.717A>C (p.Glu239Asp)
c.582A>C (p.Glu194Asp)
c.480-223A>C (n.480-223A>C)
1g.229432085T=CA1226125640ACTA1c.717A= (p.Glu239=)
c.582A= (p.Glu194=)
c.480-223A= (n.480-223A=)
1g.229432086T>ACA345146906ACTA1c.716A>T (p.Glu239Val)
c.581A>T (p.Glu194Val)
c.480-224A>T (n.480-224A>T)
1g.229432086T>CCA345146903ACTA1c.716A>G (p.Glu239Gly)
c.581A>G (p.Glu194Gly)
c.480-224A>G (n.480-224A>G)
 ClinVar
1g.229432086T>GCA345146905ACTA1c.716A>C (p.Glu239Ala)
c.581A>C (p.Glu194Ala)
c.480-224A>C (n.480-224A>C)
1g.229432087C>ACA345146909ACTA1c.715G>T (p.Glu239Ter)
c.580G>T (p.Glu194Ter)
c.480-225G>T (n.480-225G>T)
1g.229432087C=CA1226125641ACTA1c.715G= (p.Glu239=)
c.580G= (p.Glu194=)
c.480-225G= (n.480-225G=)
1g.229432087C>GCA345146911ACTA1c.715G>C (p.Glu239Gln)
c.580G>C (p.Glu194Gln)
c.480-225G>C (n.480-225G>C)
1g.229432087C>TCA10606300ACTA1c.715G>A (p.Glu239Lys)
c.580G>A (p.Glu194Lys)
c.480-225G>A (n.480-225G>A)
 ClinVar dbSNP
1g.229432088C>ACA423755098ACTA1c.714G>T (p.Leu238=)
c.579G>T (p.Leu193=)
c.480-226G>T (n.480-226G>T)
1g.229432088C>GCA423755099ACTA1c.714G>C (p.Leu238=)
c.579G>C (p.Leu193=)
c.480-226G>C (n.480-226G>C)
1g.229432088C>TCA423755101ACTA1c.714G>A (p.Leu238=)
c.579G>A (p.Leu193=)
c.480-226G>A (n.480-226G>A)
 gnomAD v4
1g.229432089A=CA1226125643ACTA1c.713T= (p.Leu238=)
c.578T= (p.Leu193=)
c.480-227T= (n.480-227T=)
1g.229432089A>CCA345146915ACTA1c.713T>G (p.Leu238Arg)
c.578T>G (p.Leu193Arg)
c.480-227T>G (n.480-227T>G)
1g.229432089A>GCA345146916ACTA1c.713T>C (p.Leu238Pro)
c.578T>C (p.Leu193Pro)
c.480-227T>C (n.480-227T>C)
 ClinVar dbSNP gnomAD v4
1g.229432089A>TCA345146919ACTA1c.713T>A (p.Leu238Gln)
c.578T>A (p.Leu193Gln)
c.480-227T>A (n.480-227T>A)
1g.229432089_229432090delinsAGCA1226125642ACTA1c.712_713delinsCT (p.Leu238=)
c.577_578delinsCT (p.Leu193=)
c.480-228_480-227delinsCT (n.480-228_480-227delinsCT)
1g.229432090G>ACA423755104ACTA1c.712C>T (p.Leu238=)
c.577C>T (p.Leu193=)
c.480-228C>T (n.480-228C>T)
1g.229432090G>CCA345146922ACTA1c.712C>G (p.Leu238Val)
c.577C>G (p.Leu193Val)
c.480-228C>G (n.480-228C>G)
1g.229432090G>TCA345146924ACTA1c.712C>A (p.Leu238Met)
c.577C>A (p.Leu193Met)
c.480-228C>A (n.480-228C>A)
1g.229432092delCA529915256ACTA1c.712del (p.Leu238TrpfsTer?)
c.577del (p.Leu193TrpfsTer?)
c.480-228del (n.480-228del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432090_229432093delinsGGGACA1226125644ACTA1c.709_712delinsTCCC (p.Ser237=)
c.574_577delinsTCCC (p.Ser192=)
c.480-231_480-228delinsTCCC (n.480-231_480-228delinsTCCC)
1g.229432091G>ACA38815693ACTA1c.711C>T (p.Ser237=)
c.576C>T (p.Ser192=)
c.480-229C>T (n.480-229C>T)
 dbSNP
1g.229432091G>CCA423755108ACTA1c.711C>G (p.Ser237=)
c.576C>G (p.Ser192=)
c.480-229C>G (n.480-229C>G)
1g.229432091G=CA1144916092ACTA1c.711C= (p.Ser237=)
c.576C= (p.Ser192=)
c.480-229C= (n.480-229C=)
1g.229432091G>TCA423755109ACTA1c.711C>A (p.Ser237=)
c.576C>A (p.Ser192=)
c.480-229C>A (n.480-229C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229432102_229432104dupCA2574151282ACTA1c.709_711dup (p.Ser237_Leu238insSer)
c.574_576dup (p.Ser192_Leu193insSer)
c.480-231_480-229dup (n.480-231_480-229dup)
 gnomAD v4
1g.229432102_229432104delCA1442812ACTA1c.709_711del (p.Ser237del)
c.574_576del (p.Ser192del)
c.480-231_480-229del (n.480-231_480-229del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229432092G>ACA345146932ACTA1c.710C>T (p.Ser237Phe)
c.575C>T (p.Ser192Phe)
c.480-230C>T (n.480-230C>T)
 COSMIC
1g.229432092G>CCA345146933ACTA1c.710C>G (p.Ser237Cys)
c.575C>G (p.Ser192Cys)
c.480-230C>G (n.480-230C>G)
1g.229432092G>TCA345146934ACTA1c.710C>A (p.Ser237Tyr)
c.575C>A (p.Ser192Tyr)
c.480-230C>A (n.480-230C>A)
1g.229432093A>CCA345146942ACTA1c.709T>G (p.Ser237Ala)
c.574T>G (p.Ser192Ala)
c.480-231T>G (n.480-231T>G)
1g.229432093A>GCA345146938ACTA1c.709T>C (p.Ser237Pro)
c.574T>C (p.Ser192Pro)
c.480-231T>C (n.480-231T>C)
 ClinVar
1g.229432093A>TCA345146940ACTA1c.709T>A (p.Ser237Thr)
c.574T>A (p.Ser192Thr)
c.480-231T>A (n.480-231T>A)
1g.229432094G>ACA423755115ACTA1c.708C>T (p.Ser236=)
c.573C>T (p.Ser191=)
c.480-232C>T (n.480-232C>T)
 dbSNP
1g.229432094G>CCA423755117ACTA1c.708C>G (p.Ser236=)
c.573C>G (p.Ser191=)
c.480-232C>G (n.480-232C>G)
 dbSNP
1g.229432094G=CA1226125645ACTA1c.708C= (p.Ser236=)
c.573C= (p.Ser191=)
c.480-232C= (n.480-232C=)
1g.229432094G>TCA423755118ACTA1c.708C>A (p.Ser236=)
c.573C>A (p.Ser191=)
c.480-232C>A (n.480-232C>A)
1g.229432095G>ACA345146944ACTA1c.707C>T (p.Ser236Phe)
c.572C>T (p.Ser191Phe)
c.480-233C>T (n.480-233C>T)
 gnomAD v4
1g.229432095G>CCA345146946ACTA1c.707C>G (p.Ser236Cys)
c.572C>G (p.Ser191Cys)
c.480-233C>G (n.480-233C>G)
1g.229432095G>TCA345146948ACTA1c.707C>A (p.Ser236Tyr)
c.572C>A (p.Ser191Tyr)
c.480-233C>A (n.480-233C>A)
 COSMIC
1g.229432096A>CCA345146951ACTA1c.706T>G (p.Ser236Ala)
c.571T>G (p.Ser191Ala)
c.480-234T>G (n.480-234T>G)
1g.229432096A>GCA345146953ACTA1c.706T>C (p.Ser236Pro)
c.571T>C (p.Ser191Pro)
c.480-234T>C (n.480-234T>C)
1g.229432096A>TCA345146957ACTA1c.706T>A (p.Ser236Thr)
c.571T>A (p.Ser191Thr)
c.480-234T>A (n.480-234T>A)
1g.229432097G>ACA423755122ACTA1c.705C>T (p.Ser235=)
c.570C>T (p.Ser190=)
c.480-235C>T (n.480-235C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432097G>CCA423755123ACTA1c.705C>G (p.Ser235=)
c.570C>G (p.Ser190=)
c.480-235C>G (n.480-235C>G)
1g.229432097G=CA1226125646ACTA1c.705C= (p.Ser235=)
c.570C= (p.Ser190=)
c.480-235C= (n.480-235C=)
1g.229432097G>TCA423755125ACTA1c.705C>A (p.Ser235=)
c.570C>A (p.Ser190=)
c.480-235C>A (n.480-235C>A)
1g.229432098G>ACA345146960ACTA1c.704C>T (p.Ser235Phe)
c.569C>T (p.Ser190Phe)
c.480-236C>T (n.480-236C>T)
1g.229432098G>CCA345146963ACTA1c.704C>G (p.Ser235Cys)
c.569C>G (p.Ser190Cys)
c.480-236C>G (n.480-236C>G)
1g.229432098G>TCA345146965ACTA1c.704C>A (p.Ser235Tyr)
c.569C>A (p.Ser190Tyr)
c.480-236C>A (n.480-236C>A)
 ClinVar dbSNP COSMIC
1g.229432099A>CCA345146969ACTA1c.703T>G (p.Ser235Ala)
c.568T>G (p.Ser190Ala)
c.480-237T>G (n.480-237T>G)
1g.229432099A>GCA345146971ACTA1c.703T>C (p.Ser235Pro)
c.568T>C (p.Ser190Pro)
c.480-237T>C (n.480-237T>C)
1g.229432099A>TCA345146973ACTA1c.703T>A (p.Ser235Thr)
c.568T>A (p.Ser190Thr)
c.480-237T>A (n.480-237T>A)
1g.229432100G>ACA423755133ACTA1c.702C>T (p.Ser234=)
c.567C>T (p.Ser189=)
c.480-238C>T (n.480-238C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432100G>CCA423755134ACTA1c.702C>G (p.Ser234=)
c.567C>G (p.Ser189=)
c.480-238C>G (n.480-238C>G)
1g.229432100G=CA1226125647ACTA1c.702C= (p.Ser234=)
c.567C= (p.Ser189=)
c.480-238C= (n.480-238C=)
1g.229432100G>TCA423755135ACTA1c.702C>A (p.Ser234=)
c.567C>A (p.Ser189=)
c.480-238C>A (n.480-238C>A)
1g.229432101G>ACA345146982ACTA1c.701C>T (p.Ser234Phe)
c.566C>T (p.Ser189Phe)
c.480-239C>T (n.480-239C>T)
1g.229432101G>CCA345146980ACTA1c.701C>G (p.Ser234Cys)
c.566C>G (p.Ser189Cys)
c.480-239C>G (n.480-239C>G)
 dbSNP
1g.229432101G=CA1226125648ACTA1c.701C= (p.Ser234=)
c.566C= (p.Ser189=)
c.480-239C= (n.480-239C=)
1g.229432101G>TCA345146978ACTA1c.701C>A (p.Ser234Tyr)
c.566C>A (p.Ser189Tyr)
c.480-239C>A (n.480-239C>A)
1g.229432102A>CCA345146984ACTA1c.700T>G (p.Ser234Ala)
c.565T>G (p.Ser189Ala)
c.480-240T>G (n.480-240T>G)
1g.229432102A>GCA345146986ACTA1c.700T>C (p.Ser234Pro)
c.565T>C (p.Ser189Pro)
c.480-240T>C (n.480-240T>C)
1g.229432102A>TCA345146989ACTA1c.700T>A (p.Ser234Thr)
c.565T>A (p.Ser189Thr)
c.480-240T>A (n.480-240T>A)
1g.229432103G>ACA38815704ACTA1c.699C>T (p.Ala233=)
c.564C>T (p.Ala188=)
c.480-241C>T (n.480-241C>T)
 dbSNP
1g.229432103G>CCA423755140ACTA1c.699C>G (p.Ala233=)
c.564C>G (p.Ala188=)
c.480-241C>G (n.480-241C>G)
1g.229432103G=CA1146411056ACTA1c.699C= (p.Ala233=)
c.564C= (p.Ala188=)
c.480-241C= (n.480-241C=)
1g.229432103G>TCA423755142ACTA1c.699C>A (p.Ala233=)
c.564C>A (p.Ala188=)
c.480-241C>A (n.480-241C>A)
1g.229432104G>ACA345146994ACTA1c.698C>T (p.Ala233Val)
c.563C>T (p.Ala188Val)
c.480-242C>T (n.480-242C>T)
1g.229432104G>CCA345146996ACTA1c.698C>G (p.Ala233Gly)
c.563C>G (p.Ala188Gly)
c.480-242C>G (n.480-242C>G)
1g.229432104G>TCA345146997ACTA1c.698C>A (p.Ala233Asp)
c.563C>A (p.Ala188Asp)
c.480-242C>A (n.480-242C>A)
1g.229432104_229432105delinsTTCA2573132017ACTA1c.697_698delinsAA (p.Ala233Asn)
c.562_563delinsAA (p.Ala188Asn)
c.480-243_480-242delinsAA (n.480-243_480-242delinsAA)
 ClinVar dbSNP
1g.229432105C>ACA345147001ACTA1c.697G>T (p.Ala233Ser)
c.562G>T (p.Ala188Ser)
c.480-243G>T (n.480-243G>T)
 COSMIC
1g.229432105C>GCA345147003ACTA1c.697G>C (p.Ala233Pro)
c.562G>C (p.Ala188Pro)
c.480-243G>C (n.480-243G>C)
1g.229432105C>TCA345147005ACTA1c.697G>A (p.Ala233Thr)
c.562G>A (p.Ala188Thr)
c.480-243G>A (n.480-243G>A)
1g.229432106G>ACA423755147ACTA1c.696C>T (p.Ala232=)
c.561C>T (p.Ala187=)
c.480-244C>T (n.480-244C>T)
 dbSNP gnomAD v4
1g.229432106G>CCA423755148ACTA1c.696C>G (p.Ala232=)
c.561C>G (p.Ala187=)
c.480-244C>G (n.480-244C>G)
1g.229432106G=CA1226125649ACTA1c.696C= (p.Ala232=)
c.561C= (p.Ala187=)
c.480-244C= (n.480-244C=)
1g.229432106G>TCA423755149ACTA1c.696C>A (p.Ala232=)
c.561C>A (p.Ala187=)
c.480-244C>A (n.480-244C>A)
1g.229432107G>ACA345147006ACTA1c.695C>T (p.Ala232Val)
c.560C>T (p.Ala187Val)
c.480-245C>T (n.480-245C>T)
 gnomAD v4 COSMIC
1g.229432107G>CCA345147007ACTA1c.695C>G (p.Ala232Gly)
c.560C>G (p.Ala187Gly)
c.480-245C>G (n.480-245C>G)
1g.229432107G>TCA345147008ACTA1c.695C>A (p.Ala232Asp)
c.560C>A (p.Ala187Asp)
c.480-245C>A (n.480-245C>A)
1g.229432108C>ACA345147014ACTA1c.694G>T (p.Ala232Ser)
c.559G>T (p.Ala187Ser)
c.480-246G>T (n.480-246G>T)
1g.229432108C>GCA345147012ACTA1c.694G>C (p.Ala232Pro)
c.559G>C (p.Ala187Pro)
c.480-246G>C (n.480-246G>C)
1g.229432108C>TCA345147011ACTA1c.694G>A (p.Ala232Thr)
c.559G>A (p.Ala187Thr)
c.480-246G>A (n.480-246G>A)
1g.229432109C>ACA423755152ACTA1c.693G>T (p.Thr231=)
c.558G>T (p.Thr186=)
c.480-247G>T (n.480-247G>T)
 gnomAD v4
1g.229432109C=CA1226125650ACTA1c.693G= (p.Thr231=)
c.558G= (p.Thr186=)
c.480-247G= (n.480-247G=)
1g.229432109C>GCA423755154ACTA1c.693G>C (p.Thr231=)
c.558G>C (p.Thr186=)
c.480-247G>C (n.480-247G>C)
 dbSNP gnomAD v4
1g.229432109C>TCA423755155ACTA1c.693G>A (p.Thr231=)
c.558G>A (p.Thr186=)
c.480-247G>A (n.480-247G>A)
 ClinVar dbSNP gnomAD v4
1g.229432110G>ACA345147017ACTA1c.692C>T (p.Thr231Met)
c.557C>T (p.Thr186Met)
c.480-248C>T (n.480-248C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432110G>CCA345147021ACTA1c.692C>G (p.Thr231Arg)
c.557C>G (p.Thr186Arg)
c.480-248C>G (n.480-248C>G)
1g.229432110G=CA1226125651ACTA1c.692C= (p.Thr231=)
c.557C= (p.Thr186=)
c.480-248C= (n.480-248C=)
1g.229432110G>TCA345147019ACTA1c.692C>A (p.Thr231Lys)
c.557C>A (p.Thr186Lys)
c.480-248C>A (n.480-248C>A)
1g.229432111T>ACA345147025ACTA1c.691A>T (p.Thr231Ser)
c.556A>T (p.Thr186Ser)
c.480-249A>T (n.480-249A>T)
1g.229432111T>CCA345147030ACTA1c.691A>G (p.Thr231Ala)
c.556A>G (p.Thr186Ala)
c.480-249A>G (n.480-249A>G)
1g.229432111T>GCA345147028ACTA1c.691A>C (p.Thr231Pro)
c.556A>C (p.Thr186Pro)
c.480-249A>C (n.480-249A>C)
1g.229432112C>ACA423755158ACTA1c.690G>T (p.Ala230=)
c.555G>T (p.Ala185=)
c.480-250G>T (n.480-250G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432112C=CA1147454841ACTA1c.690G= (p.Ala230=)
c.555G= (p.Ala185=)
c.480-250G= (n.480-250G=)
1g.229432112C>GCA1442814ACTA1c.690G>C (p.Ala230=)
c.555G>C (p.Ala185=)
c.480-250G>C (n.480-250G>C)
 dbSNP ExAC gnomAD v4
1g.229432112C>TCA1442813ACTA1c.690G>A (p.Ala230=)
c.555G>A (p.Ala185=)
c.480-250G>A (n.480-250G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.229432113G>ACA345147036ACTA1c.689C>T (p.Ala230Val)
c.554C>T (p.Ala185Val)
c.480-251C>T (n.480-251C>T)
 gnomAD v4
1g.229432113G>CCA345147039ACTA1c.689C>G (p.Ala230Gly)
c.554C>G (p.Ala185Gly)
c.480-251C>G (n.480-251C>G)
1g.229432113G>TCA345147041ACTA1c.689C>A (p.Ala230Glu)
c.554C>A (p.Ala185Glu)
c.480-251C>A (n.480-251C>A)
1g.229432114C>ACA345147045ACTA1c.688G>T (p.Ala230Ser)
c.553G>T (p.Ala185Ser)
c.480-252G>T (n.480-252G>T)
1g.229432114C>GCA345147047ACTA1c.688G>C (p.Ala230Pro)
c.553G>C (p.Ala185Pro)
c.480-252G>C (n.480-252G>C)
1g.229432114C>TCA345147050ACTA1c.688G>A (p.Ala230Thr)
c.553G>A (p.Ala185Thr)
c.480-252G>A (n.480-252G>A)
1g.229432115C>ACA345147052ACTA1c.687G>T (p.Met229Ile)
c.552G>T (p.Met184Ile)
c.480-253G>T (n.480-253G>T)
1g.229432115C>GCA345147055ACTA1c.687G>C (p.Met229Ile)
c.552G>C (p.Met184Ile)
c.480-253G>C (n.480-253G>C)
1g.229432115C>TCA345147057ACTA1c.687G>A (p.Met229Ile)
c.552G>A (p.Met184Ile)
c.480-253G>A (n.480-253G>A)
1g.229432116A>CCA345147066ACTA1c.686T>G (p.Met229Arg)
c.551T>G (p.Met184Arg)
c.480-254T>G (n.480-254T>G)
1g.229432116A>GCA345147061ACTA1c.686T>C (p.Met229Thr)
c.551T>C (p.Met184Thr)
c.480-254T>C (n.480-254T>C)
 ClinVar
1g.229432116A>TCA345147063ACTA1c.686T>A (p.Met229Lys)
c.551T>A (p.Met184Lys)
c.480-254T>A (n.480-254T>A)
1g.229432117T>ACA345147069ACTA1c.685A>T (p.Met229Leu)
c.550A>T (p.Met184Leu)
c.480-255A>T (n.480-255A>T)
 ClinVar dbSNP
1g.229432117T>CCA246018ACTA1c.685A>G (p.Met229Val)
c.550A>G (p.Met184Val)
c.480-255A>G (n.480-255A>G)
 ClinVar dbSNP
1g.229432117T>GCA345147074ACTA1c.685A>C (p.Met229Leu)
c.550A>C (p.Met184Leu)
c.480-255A>C (n.480-255A>C)
1g.229432117T=CA1226125652ACTA1c.685A= (p.Met229=)
c.550A= (p.Met184=)
c.480-255A= (n.480-255A=)
1g.229432118C>ACA345147077ACTA1c.684G>T (p.Glu228Asp)
c.549G>T (p.Glu183Asp)
c.480-256G>T (n.480-256G>T)
1g.229432118C=CA1226125653ACTA1c.684G= (p.Glu228=)
c.549G= (p.Glu183=)
c.480-256G= (n.480-256G=)
1g.229432118C>GCA345147079ACTA1c.684G>C (p.Glu228Asp)
c.549G>C (p.Glu183Asp)
c.480-256G>C (n.480-256G>C)
1g.229432118C>TCA423755162ACTA1c.684G>A (p.Glu228=)
c.549G>A (p.Glu183=)
c.480-256G>A (n.480-256G>A)
 dbSNP
1g.229432119T>ACA345147082ACTA1c.683A>T (p.Glu228Val)
c.548A>T (p.Glu183Val)
c.480-257A>T (n.480-257A>T)
1g.229432119T>CCA345147085ACTA1c.683A>G (p.Glu228Gly)
c.548A>G (p.Glu183Gly)
c.480-257A>G (n.480-257A>G)
1g.229432119T>GCA345147087ACTA1c.683A>C (p.Glu228Ala)
c.548A>C (p.Glu183Ala)
c.480-257A>C (n.480-257A>C)
1g.229432120C>ACA345147089ACTA1c.682G>T (p.Glu228Ter)
c.547G>T (p.Glu183Ter)
c.480-258G>T (n.480-258G>T)
 ClinVar dbSNP gnomAD v4
1g.229432120C=CA1226125654ACTA1c.682G= (p.Glu228=)
c.547G= (p.Glu183=)
c.480-258G= (n.480-258G=)
1g.229432120C>GCA345147092ACTA1c.682G>C (p.Glu228Gln)
c.547G>C (p.Glu183Gln)
c.480-258G>C (n.480-258G>C)
 ClinVar dbSNP
1g.229432120C>TCA345147095ACTA1c.682G>A (p.Glu228Lys)
c.547G>A (p.Glu183Lys)
c.480-258G>A (n.480-258G>A)
 gnomAD v4
1g.229432121G>ACA423755170ACTA1c.681C>T (p.Asn227=)
c.546C>T (p.Asn182=)
c.480-259C>T (n.480-259C>T)
 dbSNP COSMIC
1g.229432121G>CCA345147098ACTA1c.681C>G (p.Asn227Lys)
c.546C>G (p.Asn182Lys)
c.480-259C>G (n.480-259C>G)
1g.229432121G=CA1226125655ACTA1c.681C= (p.Asn227=)
c.546C= (p.Asn182=)
c.480-259C= (n.480-259C=)
1g.229432121G>TCA345147100ACTA1c.681C>A (p.Asn227Lys)
c.546C>A (p.Asn182Lys)
c.480-259C>A (n.480-259C>A)
1g.229432122T>ACA345147103ACTA1c.680A>T (p.Asn227Ile)
c.545A>T (p.Asn182Ile)
c.480-260A>T (n.480-260A>T)
1g.229432122T>CCA345147106ACTA1c.680A>G (p.Asn227Ser)
c.545A>G (p.Asn182Ser)
c.480-260A>G (n.480-260A>G)
1g.229432122T>GCA345147109ACTA1c.680A>C (p.Asn227Thr)
c.545A>C (p.Asn182Thr)
c.480-260A>C (n.480-260A>C)
1g.229432123T>ACA345147112ACTA1c.679A>T (p.Asn227Tyr)
c.544A>T (p.Asn182Tyr)
c.480-261A>T (n.480-261A>T)
1g.229432123T>CCA345147114ACTA1c.679A>G (p.Asn227Asp)
c.544A>G (p.Asn182Asp)
c.480-261A>G (n.480-261A>G)
1g.229432123T>GCA345147116ACTA1c.679A>C (p.Asn227His)
c.544A>C (p.Asn182His)
c.480-261A>C (n.480-261A>C)
1g.229432124C>ACA345147119ACTA1c.678G>T (p.Glu226Asp)
c.543G>T (p.Glu181Asp)
c.480-262G>T (n.480-262G>T)
1g.229432124C>GCA345147122ACTA1c.678G>C (p.Glu226Asp)
c.543G>C (p.Glu181Asp)
c.480-262G>C (n.480-262G>C)
1g.229432124C>TCA423755177ACTA1c.678G>A (p.Glu226=)
c.543G>A (p.Glu181=)
c.480-262G>A (n.480-262G>A)
1g.229432125T>ACA345147124ACTA1c.677A>T (p.Glu226Val)
c.542A>T (p.Glu181Val)
c.480-263A>T (n.480-263A>T)
1g.229432125T>CCA345147125ACTA1c.677A>G (p.Glu226Gly)
c.542A>G (p.Glu181Gly)
c.480-263A>G (n.480-263A>G)
1g.229432125T>GCA345147128ACTA1c.677A>C (p.Glu226Ala)
c.542A>C (p.Glu181Ala)
c.480-263A>C (n.480-263A>C)
1g.229432126C>ACA345147133ACTA1c.676G>T (p.Glu226Ter)
c.541G>T (p.Glu181Ter)
c.480-264G>T (n.480-264G>T)
1g.229432126C=CA1226125656ACTA1c.676G= (p.Glu226=)
c.541G= (p.Glu181=)
c.480-264G= (n.480-264G=)
1g.229432126C>GCA16603575ACTA1c.676G>C (p.Glu226Gln)
c.541G>C (p.Glu181Gln)
c.480-264G>C (n.480-264G>C)
 ClinVar dbSNP
1g.229432126C>TCA345147129ACTA1c.676G>A (p.Glu226Lys)
c.541G>A (p.Glu181Lys)
c.480-264G>A (n.480-264G>A)
 ClinVar dbSNP
1g.229432127G>ACA423755187ACTA1c.675C>T (p.Phe225=)
c.540C>T (p.Phe180=)
c.480-265C>T (n.480-265C>T)
 dbSNP gnomAD v4
1g.229432127G>CCA345147136ACTA1c.675C>G (p.Phe225Leu)
c.540C>G (p.Phe180Leu)
c.480-265C>G (n.480-265C>G)
1g.229432127G=CA1226125657ACTA1c.675C= (p.Phe225=)
c.540C= (p.Phe180=)
c.480-265C= (n.480-265C=)
1g.229432127G>TCA345147138ACTA1c.675C>A (p.Phe225Leu)
c.540C>A (p.Phe180Leu)
c.480-265C>A (n.480-265C>A)
 gnomAD v4
1g.229432128A>CCA345147140ACTA1c.674T>G (p.Phe225Cys)
c.539T>G (p.Phe180Cys)
c.480-266T>G (n.480-266T>G)
1g.229432128A>GCA345147142ACTA1c.674T>C (p.Phe225Ser)
c.539T>C (p.Phe180Ser)
c.480-266T>C (n.480-266T>C)
1g.229432128A>TCA345147143ACTA1c.674T>A (p.Phe225Tyr)
c.539T>A (p.Phe180Tyr)
c.480-266T>A (n.480-266T>A)
1g.229432129A>CCA345147144ACTA1c.673T>G (p.Phe225Val)
c.538T>G (p.Phe180Val)
c.480-267T>G (n.480-267T>G)
1g.229432129A>GCA345147146ACTA1c.673T>C (p.Phe225Leu)
c.538T>C (p.Phe180Leu)
c.480-267T>C (n.480-267T>C)
1g.229432129A>TCA345147148ACTA1c.673T>A (p.Phe225Ile)
c.538T>A (p.Phe180Ile)
c.480-267T>A (n.480-267T>A)
1g.229432130G>ACA423755189ACTA1c.672C>T (p.Asp224=)
c.537C>T (p.Asp179=)
c.480-268C>T (n.480-268C>T)
1g.229432130G>CCA345147149ACTA1c.672C>G (p.Asp224Glu)
c.537C>G (p.Asp179Glu)
c.480-268C>G (n.480-268C>G)
1g.229432130G>TCA345147151ACTA1c.672C>A (p.Asp224Glu)
c.537C>A (p.Asp179Glu)
c.480-268C>A (n.480-268C>A)
1g.229432131T>ACA345147153ACTA1c.671A>T (p.Asp224Val)
c.536A>T (p.Asp179Val)
c.480-269A>T (n.480-269A>T)
1g.229432131T>CCA345147155ACTA1c.671A>G (p.Asp224Gly)
c.536A>G (p.Asp179Gly)
c.480-269A>G (n.480-269A>G)
1g.229432131T>GCA345147156ACTA1c.671A>C (p.Asp224Ala)
c.536A>C (p.Asp179Ala)
c.480-269A>C (n.480-269A>C)
1g.229432132C>ACA345147164ACTA1c.670G>T (p.Asp224Tyr)
c.535G>T (p.Asp179Tyr)
c.480-270G>T (n.480-270G>T)
1g.229432132C>GCA345147161ACTA1c.670G>C (p.Asp224His)
c.535G>C (p.Asp179His)
c.480-270G>C (n.480-270G>C)
1g.229432132C>TCA345147159ACTA1c.670G>A (p.Asp224Asn)
c.535G>A (p.Asp179Asn)
c.480-270G>A (n.480-270G>A)
1g.229432133C>ACA423755198ACTA1c.669G>T (p.Leu223=)
c.534G>T (p.Leu178=)
c.480-271G>T (n.480-271G>T)
1g.229432133C>GCA423755197ACTA1c.669G>C (p.Leu223=)
c.534G>C (p.Leu178=)
c.480-271G>C (n.480-271G>C)
1g.229432133C>TCA423755196ACTA1c.669G>A (p.Leu223=)
c.534G>A (p.Leu178=)
c.480-271G>A (n.480-271G>A)
 gnomAD v4
1g.229432134A=CA1141581376ACTA1c.668T= (p.Leu223=)
c.533T= (p.Leu178=)
c.480-272T= (n.480-272T=)
1g.229432134A>CCA345147170ACTA1c.668T>G (p.Leu223Arg)
c.533T>G (p.Leu178Arg)
c.480-272T>G (n.480-272T>G)
1g.229432134A>GCA341497ACTA1c.668T>C (p.Leu223Pro)
c.533T>C (p.Leu178Pro)
c.480-272T>C (n.480-272T>C)
 ClinVar dbSNP
1g.229432134A>TCA345147168ACTA1c.668T>A (p.Leu223Gln)
c.533T>A (p.Leu178Gln)
c.480-272T>A (n.480-272T>A)
1g.229432135G>ACA423755201ACTA1c.667C>T (p.Leu223=)
c.532C>T (p.Leu178=)
c.480-273C>T (n.480-273C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432135G>CCA345147172ACTA1c.667C>G (p.Leu223Val)
c.532C>G (p.Leu178Val)
c.480-273C>G (n.480-273C>G)
1g.229432135G=CA1226125658ACTA1c.667C= (p.Leu223=)
c.532C= (p.Leu178=)
c.480-273C= (n.480-273C=)
1g.229432135G>TCA345147174ACTA1c.667C>A (p.Leu223Met)
c.532C>A (p.Leu178Met)
c.480-273C>A (n.480-273C>A)
1g.229432136G>ACA423755202ACTA1c.666C>T (p.Ala222=)
c.531C>T (p.Ala177=)
c.479+271C>T (n.479+271C>T)
 gnomAD v4
1g.229432136G>CCA423755204ACTA1c.666C>G (p.Ala222=)
c.531C>G (p.Ala177=)
c.479+271C>G (n.479+271C>G)
1g.229432136G>TCA423755205ACTA1c.666C>A (p.Ala222=)
c.531C>A (p.Ala177=)
c.479+271C>A (n.479+271C>A)
1g.229432137G>ACA345147178ACTA1c.665C>T (p.Ala222Val)
c.530C>T (p.Ala177Val)
c.479+270C>T (n.479+270C>T)
 COSMIC
1g.229432137G>CCA345147180ACTA1c.665C>G (p.Ala222Gly)
c.530C>G (p.Ala177Gly)
c.479+270C>G (n.479+270C>G)
1g.229432137G>TCA345147182ACTA1c.665C>A (p.Ala222Asp)
c.530C>A (p.Ala177Asp)
c.479+270C>A (n.479+270C>A)
1g.229432138C>ACA345147184ACTA1c.664G>T (p.Ala222Ser)
c.529G>T (p.Ala177Ser)
c.479+269G>T (n.479+269G>T)
1g.229432138C>GCA345147186ACTA1c.664G>C (p.Ala222Pro)
c.529G>C (p.Ala177Pro)
c.479+269G>C (n.479+269G>C)
1g.229432138C>TCA345147187ACTA1c.664G>A (p.Ala222Thr)
c.529G>A (p.Ala177Thr)
c.479+269G>A (n.479+269G>A)
1g.229432139C>ACA423755208ACTA1c.663G>T (p.Val221=)
c.528G>T (p.Val176=)
c.479+268G>T (n.479+268G>T)
1g.229432139C>GCA423755209ACTA1c.663G>C (p.Val221=)
c.528G>C (p.Val176=)
c.479+268G>C (n.479+268G>C)
1g.229432139C>TCA423755210ACTA1c.663G>A (p.Val221=)
c.528G>A (p.Val176=)
c.479+268G>A (n.479+268G>A)
1g.229432140A>CCA345147189ACTA1c.662T>G (p.Val221Gly)
c.527T>G (p.Val176Gly)
c.479+267T>G (n.479+267T>G)
1g.229432140A>GCA345147191ACTA1c.662T>C (p.Val221Ala)
c.527T>C (p.Val176Ala)
c.479+267T>C (n.479+267T>C)
1g.229432140A>TCA345147193ACTA1c.662T>A (p.Val221Glu)
c.527T>A (p.Val176Glu)
c.479+267T>A (n.479+267T>A)
1g.229432141C>ACA345147197ACTA1c.661G>T (p.Val221Leu)
c.526G>T (p.Val176Leu)
c.479+266G>T (n.479+266G>T)
 ClinVar
1g.229432141C=CA1226125659ACTA1c.661G= (p.Val221=)
c.526G= (p.Val176=)
c.479+266G= (n.479+266G=)
1g.229432141C>GCA345147195ACTA1c.661G>C (p.Val221Leu)
c.526G>C (p.Val176Leu)
c.479+266G>C (n.479+266G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432141C>TCA345147194ACTA1c.661G>A (p.Val221Met)
c.526G>A (p.Val176Met)
c.479+266G>A (n.479+266G>A)
 COSMIC
1g.229432142G>ACA1442815ACTA1c.660C>T (p.Tyr220=)
c.525C>T (p.Tyr175=)
c.479+265C>T (n.479+265C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432142G>CCA345147203ACTA1c.660C>G (p.Tyr220Ter)
c.525C>G (p.Tyr175Ter)
c.479+265C>G (n.479+265C>G)
1g.229432142G=CA1143507940ACTA1c.660C= (p.Tyr220=)
c.525C= (p.Tyr175=)
c.479+265C= (n.479+265C=)
1g.229432142G>TCA1442816ACTA1c.660C>A (p.Tyr220Ter)
c.525C>A (p.Tyr175Ter)
c.479+265C>A (n.479+265C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432142_229432143delCA645538676ACTA1c.659_660del (p.Tyr220CysfsTer?)
c.524_525del (p.Tyr175CysfsTer?)
c.479+264_479+265del (n.479+264_479+265del)
 COSMIC
1g.229432143T>ACA345147207ACTA1c.659A>T (p.Tyr220Phe)
c.524A>T (p.Tyr175Phe)
c.479+264A>T (n.479+264A>T)
 ClinVar dbSNP
1g.229432143T>CCA345147209ACTA1c.659A>G (p.Tyr220Cys)
c.524A>G (p.Tyr175Cys)
c.479+264A>G (n.479+264A>G)
1g.229432143T>GCA345147211ACTA1c.659A>C (p.Tyr220Ser)
c.524A>C (p.Tyr175Ser)
c.479+264A>C (n.479+264A>C)
1g.229432143T=CA1226125660ACTA1c.659A= (p.Tyr220=)
c.524A= (p.Tyr175=)
c.479+264A= (n.479+264A=)
1g.229432144A>CCA345147214ACTA1c.658T>G (p.Tyr220Asp)
c.523T>G (p.Tyr175Asp)
c.479+263T>G (n.479+263T>G)
1g.229432144A>GCA345147216ACTA1c.658T>C (p.Tyr220His)
c.523T>C (p.Tyr175His)
c.479+263T>C (n.479+263T>C)
1g.229432144A>TCA345147217ACTA1c.658T>A (p.Tyr220Asn)
c.523T>A (p.Tyr175Asn)
c.479+263T>A (n.479+263T>A)
1g.229432145G>ACA423755225ACTA1c.657C>T (p.Cys219=)
c.522C>T (p.Cys174=)
c.479+262C>T (n.479+262C>T)
1g.229432145G>CCA345147219ACTA1c.657C>G (p.Cys219Trp)
c.522C>G (p.Cys174Trp)
c.479+262C>G (n.479+262C>G)
1g.229432145G>TCA345147221ACTA1c.657C>A (p.Cys219Ter)
c.522C>A (p.Cys174Ter)
c.479+262C>A (n.479+262C>A)
1g.229432146C>ACA345147224ACTA1c.656G>T (p.Cys219Phe)
c.521G>T (p.Cys174Phe)
c.479+261G>T (n.479+261G>T)
 gnomAD v4
1g.229432146C>GCA345147226ACTA1c.656G>C (p.Cys219Ser)
c.521G>C (p.Cys174Ser)
c.479+261G>C (n.479+261G>C)
1g.229432146C>TCA345147228ACTA1c.656G>A (p.Cys219Tyr)
c.521G>A (p.Cys174Tyr)
c.479+261G>A (n.479+261G>A)
 COSMIC
1g.229432148_229432149delCA645538677ACTA1c.655_656del (p.Cys219LeufsTer?)
c.520_521del (p.Cys174LeufsTer?)
c.479+260_479+261del (n.479+260_479+261del)
 COSMIC
1g.229432147A>CCA345147236ACTA1c.655T>G (p.Cys219Gly)
c.520T>G (p.Cys174Gly)
c.479+260T>G (n.479+260T>G)
1g.229432147A>GCA345147238ACTA1c.655T>C (p.Cys219Arg)
c.520T>C (p.Cys174Arg)
c.479+260T>C (n.479+260T>C)
1g.229432147A>TCA345147232ACTA1c.655T>A (p.Cys219Ser)
c.520T>A (p.Cys174Ser)
c.479+260T>A (n.479+260T>A)
1g.229432148C>ACA423755231ACTA1c.654G>T (p.Leu218=)
c.519G>T (p.Leu173=)
c.479+259G>T (n.479+259G>T)
1g.229432148C=CA1226125661ACTA1c.654G= (p.Leu218=)
c.519G= (p.Leu173=)
c.479+259G= (n.479+259G=)
1g.229432148C>GCA423755228ACTA1c.654G>C (p.Leu218=)
c.519G>C (p.Leu173=)
c.479+259G>C (n.479+259G>C)
 dbSNP gnomAD v2
1g.229432148C>TCA423755230ACTA1c.654G>A (p.Leu218=)
c.519G>A (p.Leu173=)
c.479+259G>A (n.479+259G>A)
 dbSNP
1g.229432149A>CCA345147239ACTA1c.653T>G (p.Leu218Arg)
c.518T>G (p.Leu173Arg)
c.479+258T>G (n.479+258T>G)
1g.229432149A>GCA345147240ACTA1c.653T>C (p.Leu218Pro)
c.518T>C (p.Leu173Pro)
c.479+258T>C (n.479+258T>C)
1g.229432149A>TCA345147242ACTA1c.653T>A (p.Leu218Gln)
c.518T>A (p.Leu173Gln)
c.479+258T>A (n.479+258T>A)
1g.229432150G>ACA423755232ACTA1c.652C>T (p.Leu218=)
c.517C>T (p.Leu173=)
c.479+257C>T (n.479+257C>T)
 ClinVar dbSNP gnomAD v4
1g.229432150G>CCA345147245ACTA1c.652C>G (p.Leu218Val)
c.517C>G (p.Leu173Val)
c.479+257C>G (n.479+257C>G)
1g.229432150G=CA1226125662ACTA1c.652C= (p.Leu218=)
c.517C= (p.Leu173=)
c.479+257C= (n.479+257C=)
1g.229432150G>TCA345147247ACTA1c.652C>A (p.Leu218Met)
c.517C>A (p.Leu173Met)
c.479+257C>A (n.479+257C>A)
1g.229432151C>ACA345147251ACTA1c.651G>T (p.Lys217Asn)
c.516G>T (p.Lys172Asn)
c.479+256G>T (n.479+256G>T)
1g.229432151C>GCA345147252ACTA1c.651G>C (p.Lys217Asn)
c.516G>C (p.Lys172Asn)
c.479+256G>C (n.479+256G>C)
1g.229432151C>TCA423755235ACTA1c.651G>A (p.Lys217=)
c.516G>A (p.Lys172=)
c.479+256G>A (n.479+256G>A)
 ClinVar
1g.229432152T>ACA345147257ACTA1c.650A>T (p.Lys217Met)
c.515A>T (p.Lys172Met)
c.479+255A>T (n.479+255A>T)
1g.229432152T>CCA345147259ACTA1c.650A>G (p.Lys217Arg)
c.515A>G (p.Lys172Arg)
c.479+255A>G (n.479+255A>G)
1g.229432152T>GCA345147263ACTA1c.650A>C (p.Lys217Thr)
c.515A>C (p.Lys172Thr)
c.479+255A>C (n.479+255A>C)
1g.229432153T>ACA345147266ACTA1c.649A>T (p.Lys217Ter)
c.514A>T (p.Lys172Ter)
c.479+254A>T (n.479+254A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432153T>CCA345147270ACTA1c.649A>G (p.Lys217Glu)
c.514A>G (p.Lys172Glu)
c.479+254A>G (n.479+254A>G)
1g.229432153T>GCA345147272ACTA1c.649A>C (p.Lys217Gln)
c.514A>C (p.Lys172Gln)
c.479+254A>C (n.479+254A>C)
1g.229432153T=CA1226125663ACTA1c.649A= (p.Lys217=)
c.514A= (p.Lys172=)
c.479+254A= (n.479+254A=)
1g.229432154delCA645538678ACTA1c.648del (p.Lys217SerfsTer?)
c.513del (p.Lys172SerfsTer?)
c.479+253del (n.479+253del)
 COSMIC
1g.229432154C>ACA345147276ACTA1c.648G>T (p.Glu216Asp)
c.513G>T (p.Glu171Asp)
c.479+253G>T (n.479+253G>T)
1g.229432154C=CA1145060616ACTA1c.648G= (p.Glu216=)
c.513G= (p.Glu171=)
c.479+253G= (n.479+253G=)
1g.229432154C>GCA345147280ACTA1c.648G>C (p.Glu216Asp)
c.513G>C (p.Glu171Asp)
c.479+253G>C (n.479+253G>C)
1g.229432154C>TCA38815737ACTA1c.648G>A (p.Glu216=)
c.513G>A (p.Glu171=)
c.479+253G>A (n.479+253G>A)
 dbSNP gnomAD v4
1g.229432155T>ACA345147282ACTA1c.647A>T (p.Glu216Val)
c.512A>T (p.Glu171Val)
c.479+252A>T (n.479+252A>T)
1g.229432155T>CCA345147285ACTA1c.647A>G (p.Glu216Gly)
c.512A>G (p.Glu171Gly)
c.479+252A>G (n.479+252A>G)
1g.229432155T>GCA345147289ACTA1c.647A>C (p.Glu216Ala)
c.512A>C (p.Glu171Ala)
c.479+252A>C (n.479+252A>C)
1g.229432156C>ACA345147293ACTA1c.646G>T (p.Glu216Ter)
c.511G>T (p.Glu171Ter)
c.479+251G>T (n.479+251G>T)
1g.229432156C>GCA345147298ACTA1c.646G>C (p.Glu216Gln)
c.511G>C (p.Glu171Gln)
c.479+251G>C (n.479+251G>C)
1g.229432156C>TCA345147303ACTA1c.646G>A (p.Glu216Lys)
c.511G>A (p.Glu171Lys)
c.479+251G>A (n.479+251G>A)
 ClinVar
1g.229432157C>ACA345147307ACTA1c.645G>T (p.Lys215Asn)
c.510G>T (p.Lys170Asn)
c.479+250G>T (n.479+250G>T)
1g.229432157C=CA1226125664ACTA1c.645G= (p.Lys215=)
c.510G= (p.Lys170=)
c.479+250G= (n.479+250G=)
1g.229432157C>GCA345147311ACTA1c.645G>C (p.Lys215Asn)
c.510G>C (p.Lys170Asn)
c.479+250G>C (n.479+250G>C)
1g.229432157C>TCA423755241ACTA1c.645G>A (p.Lys215=)
c.510G>A (p.Lys170=)
c.479+250G>A (n.479+250G>A)
 ClinVar dbSNP
1g.229432158T>ACA345147315ACTA1c.644A>T (p.Lys215Met)
c.509A>T (p.Lys170Met)
c.479+249A>T (n.479+249A>T)
1g.229432158T>CCA345147317ACTA1c.644A>G (p.Lys215Arg)
c.509A>G (p.Lys170Arg)
c.479+249A>G (n.479+249A>G)
1g.229432158T>GCA345147319ACTA1c.644A>C (p.Lys215Thr)
c.509A>C (p.Lys170Thr)
c.479+249A>C (n.479+249A>C)
1g.229432159T>ACA345147325ACTA1c.643A>T (p.Lys215Ter)
c.508A>T (p.Lys170Ter)
c.479+248A>T (n.479+248A>T)
1g.229432159T>CCA345147327ACTA1c.643A>G (p.Lys215Glu)
c.508A>G (p.Lys170Glu)
c.479+248A>G (n.479+248A>G)
 dbSNP
1g.229432159T>GCA345147322ACTA1c.643A>C (p.Lys215Gln)
c.508A>C (p.Lys170Gln)
c.479+248A>C (n.479+248A>C)
1g.229432159T=CA1226125665ACTA1c.643A= (p.Lys215=)
c.508A= (p.Lys170=)
c.479+248A= (n.479+248A=)
1g.229432160G>ACA423755244ACTA1c.642C>T (p.Ile214=)
c.507C>T (p.Ile169=)
c.479+247C>T (n.479+247C>T)
1g.229432160G>CCA345147329ACTA1c.642C>G (p.Ile214Met)
c.507C>G (p.Ile169Met)
c.479+247C>G (n.479+247C>G)
 COSMIC
1g.229432160G>TCA423755245ACTA1c.642C>A (p.Ile214=)
c.507C>A (p.Ile169=)
c.479+247C>A (n.479+247C>A)
1g.229432161A>CCA345147334ACTA1c.641T>G (p.Ile214Ser)
c.506T>G (p.Ile169Ser)
c.479+246T>G (n.479+246T>G)
1g.229432161A>GCA345147337ACTA1c.641T>C (p.Ile214Thr)
c.506T>C (p.Ile169Thr)
c.479+246T>C (n.479+246T>C)
1g.229432161A>TCA345147338ACTA1c.641T>A (p.Ile214Asn)
c.506T>A (p.Ile169Asn)
c.479+246T>A (n.479+246T>A)
1g.229432162T>ACA345147342ACTA1c.640A>T (p.Ile214Phe)
c.505A>T (p.Ile169Phe)
c.479+245A>T (n.479+245A>T)
1g.229432162T>CCA345147344ACTA1c.640A>G (p.Ile214Val)
c.505A>G (p.Ile169Val)
c.479+245A>G (n.479+245A>G)
 ClinVar
1g.229432162T>GCA345147350ACTA1c.640A>C (p.Ile214Leu)
c.505A>C (p.Ile169Leu)
c.479+245A>C (n.479+245A>C)
1g.229432163G>ACA423755246ACTA1c.639C>T (p.Asp213=)
c.504C>T (p.Asp168=)
c.479+244C>T (n.479+244C>T)
1g.229432163G>CCA345147355ACTA1c.639C>G (p.Asp213Glu)
c.504C>G (p.Asp168Glu)
c.479+244C>G (n.479+244C>G)
1g.229432163G>TCA345147353ACTA1c.639C>A (p.Asp213Glu)
c.504C>A (p.Asp168Glu)
c.479+244C>A (n.479+244C>A)
1g.229432164T>ACA345147362ACTA1c.638A>T (p.Asp213Val)
c.503A>T (p.Asp168Val)
c.479+243A>T (n.479+243A>T)
1g.229432164T>CCA345147365ACTA1c.638A>G (p.Asp213Gly)
c.503A>G (p.Asp168Gly)
c.479+243A>G (n.479+243A>G)
 COSMIC
1g.229432164T>GCA345147369ACTA1c.638A>C (p.Asp213Ala)
c.503A>C (p.Asp168Ala)
c.479+243A>C (n.479+243A>C)
1g.229432165C>ACA345147372ACTA1c.637G>T (p.Asp213Tyr)
c.502G>T (p.Asp168Tyr)
c.479+242G>T (n.479+242G>T)
1g.229432165C=CA1226125666ACTA1c.637G= (p.Asp213=)
c.502G= (p.Asp168=)
c.479+242G= (n.479+242G=)
1g.229432165C>GCA345147376ACTA1c.637G>C (p.Asp213His)
c.502G>C (p.Asp168His)
c.479+242G>C (n.479+242G>C)
1g.229432165C>TCA345147378ACTA1c.637G>A (p.Asp213Asn)
c.502G>A (p.Asp168Asn)
c.479+242G>A (n.479+242G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432166G>ACA423755252ACTA1c.636C>T (p.Arg212=)
c.501C>T (p.Arg167=)
c.479+241C>T (n.479+241C>T)
1g.229432166G>CCA423755253ACTA1c.636C>G (p.Arg212=)
c.501C>G (p.Arg167=)
c.479+241C>G (n.479+241C>G)
1g.229432166G>TCA423755255ACTA1c.636C>A (p.Arg212=)
c.501C>A (p.Arg167=)
c.479+241C>A (n.479+241C>A)
1g.229432167C>ACA345147390ACTA1c.635G>T (p.Arg212Leu)
c.500G>T (p.Arg167Leu)
c.479+240G>T (n.479+240G>T)
1g.229432167C>GCA345147383ACTA1c.635G>C (p.Arg212Pro)
c.500G>C (p.Arg167Pro)
c.479+240G>C (n.479+240G>C)
1g.229432167C>TCA345147386ACTA1c.635G>A (p.Arg212His)
c.500G>A (p.Arg167His)
c.479+240G>A (n.479+240G>A)
1g.229432168G>ACA345147393ACTA1c.634C>T (p.Arg212Cys)
c.499C>T (p.Arg167Cys)
c.479+239C>T (n.479+239C>T)
1g.229432168G>CCA345147394ACTA1c.634C>G (p.Arg212Gly)
c.499C>G (p.Arg167Gly)
c.479+239C>G (n.479+239C>G)
1g.229432168G>TCA345147396ACTA1c.634C>A (p.Arg212Ser)
c.499C>A (p.Arg167Ser)
c.479+239C>A (n.479+239C>A)
 COSMIC
1g.229432169C>ACA423755258ACTA1c.633G>T (p.Val211=)
c.498G>T (p.Val166=)
c.479+238G>T (n.479+238G>T)
1g.229432169C=CA1226125667ACTA1c.633G= (p.Val211=)
c.498G= (p.Val166=)
c.479+238G= (n.479+238G=)
1g.229432169C>GCA423755260ACTA1c.633G>C (p.Val211=)
c.498G>C (p.Val166=)
c.479+238G>C (n.479+238G>C)
1g.229432169C>TCA38815744ACTA1c.633G>A (p.Val211=)
c.498G>A (p.Val166=)
c.479+238G>A (n.479+238G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432170A>CCA345147398ACTA1c.632T>G (p.Val211Gly)
c.497T>G (p.Val166Gly)
c.479+237T>G (n.479+237T>G)
1g.229432170A>GCA345147399ACTA1c.632T>C (p.Val211Ala)
c.497T>C (p.Val166Ala)
c.479+237T>C (n.479+237T>C)
1g.229432170A>TCA345147403ACTA1c.632T>A (p.Val211Glu)
c.497T>A (p.Val166Glu)
c.479+237T>A (n.479+237T>A)
1g.229432171C>ACA345147407ACTA1c.631G>T (p.Val211Leu)
c.496G>T (p.Val166Leu)
c.479+236G>T (n.479+236G>T)
1g.229432171C>GCA345147409ACTA1c.631G>C (p.Val211Leu)
c.496G>C (p.Val166Leu)
c.479+236G>C (n.479+236G>C)
 gnomAD v4
1g.229432171C>TCA345147413ACTA1c.631G>A (p.Val211Met)
c.496G>A (p.Val166Met)
c.479+236G>A (n.479+236G>A)
 COSMIC
1g.229432172G>ACA423755263ACTA1c.630C>T (p.Ile210=)
c.495C>T (p.Ile165=)
c.479+235C>T (n.479+235C>T)
 dbSNP gnomAD v4
1g.229432172G>CCA345147417ACTA1c.630C>G (p.Ile210Met)
c.495C>G (p.Ile165Met)
c.479+235C>G (n.479+235C>G)
 ClinVar
1g.229432172G=CA1226125668ACTA1c.630C= (p.Ile210=)
c.495C= (p.Ile165=)
c.479+235C= (n.479+235C=)
1g.229432172G>TCA423755264ACTA1c.630C>A (p.Ile210=)
c.495C>A (p.Ile165=)
c.479+235C>A (n.479+235C>A)
1g.229432173A>CCA345147423ACTA1c.629T>G (p.Ile210Ser)
c.494T>G (p.Ile165Ser)
c.479+234T>G (n.479+234T>G)
1g.229432173A>GCA345147432ACTA1c.629T>C (p.Ile210Thr)
c.494T>C (p.Ile165Thr)
c.479+234T>C (n.479+234T>C)
1g.229432173A>TCA345147434ACTA1c.629T>A (p.Ile210Asn)
c.494T>A (p.Ile165Asn)
c.479+234T>A (n.479+234T>A)
1g.229432174T>ACA345147443ACTA1c.628A>T (p.Ile210Phe)
c.493A>T (p.Ile165Phe)
c.479+233A>T (n.479+233A>T)
 gnomAD v4
1g.229432174T>CCA345147439ACTA1c.628A>G (p.Ile210Val)
c.493A>G (p.Ile165Val)
c.479+233A>G (n.479+233A>G)
1g.229432174T>GCA345147441ACTA1c.628A>C (p.Ile210Leu)
c.493A>C (p.Ile165Leu)
c.479+233A>C (n.479+233A>C)
1g.229432175C>ACA345147447ACTA1c.627G>T (p.Glu209Asp)
c.492G>T (p.Glu164Asp)
c.479+232G>T (n.479+232G>T)
 ClinVar
1g.229432175C=CA1226125669ACTA1c.627G= (p.Glu209=)
c.492G= (p.Glu164=)
c.479+232G= (n.479+232G=)
1g.229432175C>GCA345147450ACTA1c.627G>C (p.Glu209Asp)
c.492G>C (p.Glu164Asp)
c.479+232G>C (n.479+232G>C)
 ClinVar
1g.229432175C>TCA423755268ACTA1c.627G>A (p.Glu209=)
c.492G>A (p.Glu164=)
c.479+232G>A (n.479+232G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432176T>ACA345147457ACTA1c.626A>T (p.Glu209Val)
c.491A>T (p.Glu164Val)
c.479+231A>T (n.479+231A>T)
1g.229432176T>CCA345147461ACTA1c.626A>G (p.Glu209Gly)
c.491A>G (p.Glu164Gly)
c.479+231A>G (n.479+231A>G)
1g.229432176T>GCA345147464ACTA1c.626A>C (p.Glu209Ala)
c.491A>C (p.Glu164Ala)
c.479+231A>C (n.479+231A>C)
1g.229432177C>ACA345147474ACTA1c.625G>T (p.Glu209Ter)
c.490G>T (p.Glu164Ter)
c.479+230G>T (n.479+230G>T)
1g.229432177C>GCA345147477ACTA1c.625G>C (p.Glu209Gln)
c.490G>C (p.Glu164Gln)
c.479+230G>C (n.479+230G>C)
1g.229432177C>TCA345147479ACTA1c.625G>A (p.Glu209Lys)
c.490G>A (p.Glu164Lys)
c.479+230G>A (n.479+230G>A)
1g.229432178G>ACA423755272ACTA1c.624C>T (p.Arg208=)
c.489C>T (p.Arg163=)
c.479+229C>T (n.479+229C>T)
1g.229432178G>CCA423755273ACTA1c.624C>G (p.Arg208=)
c.489C>G (p.Arg163=)
c.479+229C>G (n.479+229C>G)
1g.229432178G=CA1226125670ACTA1c.624C= (p.Arg208=)
c.489C= (p.Arg163=)
c.479+229C= (n.479+229C=)
1g.229432178G>TCA1442817ACTA1c.624C>A (p.Arg208=)
c.489C>A (p.Arg163=)
c.479+229C>A (n.479+229C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432179C>ACA345147489ACTA1c.623G>T (p.Arg208Leu)
c.488G>T (p.Arg163Leu)
c.479+228G>T (n.479+228G>T)
 dbSNP gnomAD v4
1g.229432179C=CA1226125671ACTA1c.623G= (p.Arg208=)
c.488G= (p.Arg163=)
c.479+228G= (n.479+228G=)
1g.229432179C>GCA345147492ACTA1c.623G>C (p.Arg208Pro)
c.488G>C (p.Arg163Pro)
c.479+228G>C (n.479+228G>C)
1g.229432179C>TCA345147495ACTA1c.623G>A (p.Arg208His)
c.488G>A (p.Arg163His)
c.479+228G>A (n.479+228G>A)
 dbSNP COSMIC

Number of alleles fetched