Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852930G>ACA220585PAHc.727C>T (p.Arg243Ter)
c.712C>T (p.Arg238Ter)
n.486C>T
ClinVar dbSNP ExAC gnomAD COSMIC
12g.102852930G>CCA386295803PAHc.727C>G (p.Arg243Gly)
c.712C>G (p.Arg238Gly)
n.486C>G
12g.102852930G=CA2059446676PAHc.727C= (p.Arg243=)
c.712C= (p.Arg238=)
n.486C=
12g.102852930G>TCA481331568PAHc.727C>A (p.Arg243=)
c.712C>A (p.Arg238=)
n.486C>A
12g.102852931G>ACA481331569PAHc.726C>T (p.Leu242=)
c.711C>T (p.Leu237=)
n.485C>T
gnomAD
12g.102852931G>CCA481331570PAHc.726C>G (p.Leu242=)
c.711C>G (p.Leu237=)
n.485C>G
12g.102852931G=CA2059446679PAHc.726C= (p.Leu242=)
c.711C= (p.Leu237=)
n.485C=
12g.102852931G>TCA481331571PAHc.726C>A (p.Leu242=)
c.711C>A (p.Leu237=)
n.485C>A
12g.102852932A>CCA386295806PAHc.725T>G (p.Leu242Arg)
c.710T>G (p.Leu237Arg)
n.484T>G
12g.102852932A>GCA386295808PAHc.725T>C (p.Leu242Pro)
c.710T>C (p.Leu237Pro)
n.484T>C
12g.102852932A>TCA386295811PAHc.725T>A (p.Leu242His)
c.710T>A (p.Leu237His)
n.484T>A
12g.102852933G>ACA229718PAHc.724C>T (p.Leu242Phe)
c.709C>T (p.Leu237Phe)
n.483C>T
ClinVar dbSNP
12g.102852933G>CCA386295816PAHc.724C>G (p.Leu242Val)
c.709C>G (p.Leu237Val)
n.483C>G
12g.102852933G=CA2059446681PAHc.724C= (p.Leu242=)
c.709C= (p.Leu237=)
n.483C=
12g.102852933G>TCA386295819PAHc.724C>A (p.Leu242Ile)
c.709C>A (p.Leu237Ile)
n.483C>A
12g.102852934G>ACA481331574PAHc.723C>T (p.Arg241=)
c.708C>T (p.Arg236=)
n.482C>T
12g.102852934G>CCA481331572PAHc.723C>G (p.Arg241=)
c.708C>G (p.Arg236=)
n.482C>G
12g.102852934G>TCA481331573PAHc.723C>A (p.Arg241=)
c.708C>A (p.Arg236=)
n.482C>A
12g.102852934_102852935delinsGCCA2059446685PAHc.722_723delinsGC (p.Arg241=)
c.707_708delinsGC (p.Arg236=)
n.481_482delinsGC
12g.102852935delCA229717PAHc.722del (p.Arg241ProfsTer?)
c.707del (p.Arg236ProfsTer?)
n.481del
ClinVar dbSNP
12g.102852935C>ACA229716PAHc.722G>T (p.Arg241Leu)
c.707G>T (p.Arg236Leu)
n.481G>T
ClinVar dbSNP gnomAD
12g.102852935C=CA2059446693PAHc.722G= (p.Arg241=)
c.707G= (p.Arg236=)
n.481G=
12g.102852935C>GCA386295825PAHc.722G>C (p.Arg241Pro)
c.707G>C (p.Arg236Pro)
n.481G>C
12g.102852935C>TCA286507PAHc.722G>A (p.Arg241His)
c.707G>A (p.Arg236His)
n.481G>A
ClinVar dbSNP ExAC gnomAD
12g.102852936G>ACA273357PAHc.721C>T (p.Arg241Cys)
c.706C>T (p.Arg236Cys)
n.480C>T
ClinVar dbSNP ExAC gnomAD COSMIC
12g.102852936G>CCA386295833PAHc.721C>G (p.Arg241Gly)
c.706C>G (p.Arg236Gly)
n.480C>G
12g.102852936G=CA2059446698PAHc.721C= (p.Arg241=)
c.706C= (p.Arg236=)
n.480C=
12g.102852936G>TCA386295836PAHc.721C>A (p.Arg241Ser)
c.706C>A (p.Arg236Ser)
n.480C>A
ClinVar
12g.102852937G>ACA481331575PAHc.720C>T (p.Phe240=)
c.705C>T (p.Phe235=)
n.479C>T
12g.102852937G>CCA386295838PAHc.720C>G (p.Phe240Leu)
c.705C>G (p.Phe235Leu)
n.479C>G
12g.102852937G>TCA386295840PAHc.720C>A (p.Phe240Leu)
c.705C>A (p.Phe235Leu)
n.479C>A
12g.102852938A=CA2059446702PAHc.719T= (p.Phe240=)
c.704T= (p.Phe235=)
n.478T=
12g.102852938A>CCA386295844PAHc.719T>G (p.Phe240Cys)
c.704T>G (p.Phe235Cys)
n.478T>G
COSMIC
12g.102852938A>GCA229715PAHc.719T>C (p.Phe240Ser)
c.704T>C (p.Phe235Ser)
n.478T>C
ClinVar dbSNP
12g.102852938A>TCA386295845PAHc.719T>A (p.Phe240Tyr)
c.704T>A (p.Phe235Tyr)
n.478T>A
12g.102852939A=CA2059446708PAHc.718T= (p.Phe240=)
c.703T= (p.Phe235=)
n.477T=
12g.102852939A>CCA229713PAHc.718T>G (p.Phe240Val)
c.703T>G (p.Phe235Val)
n.477T>G
ClinVar dbSNP
12g.102852939A>GCA386295846PAHc.718T>C (p.Phe240Leu)
c.703T>C (p.Phe235Leu)
n.477T>C
12g.102852939A>TCA386295847PAHc.718T>A (p.Phe240Ile)
c.703T>A (p.Phe235Ile)
n.477T>A
12g.102852940A>CCA481331576PAHc.717T>G (p.Gly239=)
c.702T>G (p.Gly234=)
n.476T>G
12g.102852940A>GCA481331577PAHc.717T>C (p.Gly239=)
c.702T>C (p.Gly234=)
n.476T>C
12g.102852940A>TCA481331578PAHc.717T>A (p.Gly239=)
c.702T>A (p.Gly234=)
n.476T>A
12g.102852941C>ACA229711PAHc.716G>T (p.Gly239Val)
c.701G>T (p.Gly234Val)
n.475G>T
ClinVar dbSNP gnomAD
12g.102852941C=CA2059446718PAHc.716G= (p.Gly239=)
c.701G= (p.Gly234=)
n.475G=
12g.102852941C>GCA229709PAHc.716G>C (p.Gly239Ala)
c.701G>C (p.Gly234Ala)
n.475G>C
ClinVar dbSNP
12g.102852941C>TCA229707PAHc.716G>A (p.Gly239Asp)
c.701G>A (p.Gly234Asp)
n.475G>A
ClinVar dbSNP
12g.102852942C>ACA386295848PAHc.715G>T (p.Gly239Cys)
c.700G>T (p.Gly234Cys)
n.474G>T
12g.102852942C=CA2059446723PAHc.715G= (p.Gly239=)
c.700G= (p.Gly234=)
n.474G=
12g.102852942C>GCA386295849PAHc.715G>C (p.Gly239Arg)
c.700G>C (p.Gly234Arg)
n.474G>C

Number of alleles fetched