Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.77794470_77794473delCA5094583GNAQc.727_730del (p.Asp243MetfsTer30)
c.553_556del (p.Asp185MetfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794472T>ACA465578287GNAQc.726A>T (p.Ser242=)
c.552A>T (p.Ser184=)
9g.77794472T>CCA465578288GNAQc.726A>G (p.Ser242=)
c.552A>G (p.Ser184=)
 dbSNP
9g.77794472T>GCA465578289GNAQc.726A>C (p.Ser242=)
c.552A>C (p.Ser184=)
9g.77794473G>ACA373997649GNAQc.725C>T (p.Ser242Leu)
c.551C>T (p.Ser184Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.77794473G>CCA373997650GNAQc.725C>G (p.Ser242Ter)
c.551C>G (p.Ser184Ter)
 dbSNP
9g.77794473G=CA1857429356GNAQc.725C= (p.Ser242=)
c.551C= (p.Ser184=)
9g.77794473G>TCA373997651GNAQc.725C>A (p.Ser242Ter)
c.551C>A (p.Ser184Ter)
 dbSNP gnomAD v4
9g.77794474A>CCA373997652GNAQc.724T>G (p.Ser242Ala)
c.550T>G (p.Ser184Ala)
 dbSNP
9g.77794474A>GCA373997654GNAQc.724T>C (p.Ser242Pro)
c.550T>C (p.Ser184Pro)
 dbSNP
9g.77794474A>TCA373997653GNAQc.724T>A (p.Ser242Thr)
c.550T>A (p.Ser184Thr)
 dbSNP
9g.77794475C>ACA373997655GNAQc.723G>T (p.Glu241Asp)
c.549G>T (p.Glu183Asp)
9g.77794475C>GCA373997656GNAQc.723G>C (p.Glu241Asp)
c.549G>C (p.Glu183Asp)
 dbSNP
9g.77794475C>TCA465578290GNAQc.723G>A (p.Glu241=)
c.549G>A (p.Glu183=)
9g.77794476T>ACA373997657GNAQc.722A>T (p.Glu241Val)
c.548A>T (p.Glu183Val)
9g.77794476T>CCA373997658GNAQc.722A>G (p.Glu241Gly)
c.548A>G (p.Glu183Gly)
9g.77794476T>GCA373997659GNAQc.722A>C (p.Glu241Ala)
c.548A>C (p.Glu183Ala)
9g.77794477C>ACA373997660GNAQc.721G>T (p.Glu241Ter)
c.547G>T (p.Glu183Ter)
 dbSNP
9g.77794477C>GCA373997661GNAQc.721G>C (p.Glu241Gln)
c.547G>C (p.Glu183Gln)
 dbSNP
9g.77794477C>TCA373997662GNAQc.721G>A (p.Glu241Lys)
c.547G>A (p.Glu183Lys)
 dbSNP
9g.77794478delCA2690385156GNAQc.721del (p.Glu241SerfsTer?)
c.547del (p.Glu183SerfsTer?)
 gnomAD v4
9g.77794478C>ACA465578291GNAQc.720G>T (p.Val240=)
c.546G>T (p.Val182=)
9g.77794478C>GCA465578292GNAQc.720G>C (p.Val240=)
c.546G>C (p.Val182=)
 dbSNP
9g.77794478C>TCA465578293GNAQc.720G>A (p.Val240=)
c.546G>A (p.Val182=)
 dbSNP gnomAD v4
9g.77794479A>CCA373997663GNAQc.719T>G (p.Val240Gly)
c.545T>G (p.Val182Gly)
 dbSNP
9g.77794479A>GCA373997664GNAQc.719T>C (p.Val240Ala)
c.545T>C (p.Val182Ala)
 gnomAD v4
9g.77794479A>TCA373997665GNAQc.719T>A (p.Val240Glu)
c.545T>A (p.Val182Glu)
 dbSNP
9g.77794480C>ACA373997666GNAQc.718G>T (p.Val240Leu)
c.544G>T (p.Val182Leu)
 dbSNP gnomAD v4
9g.77794480C=CA1857429363GNAQc.718G= (p.Val240=)
c.544G= (p.Val182=)
9g.77794480C>GCA373997667GNAQc.718G>C (p.Val240Leu)
c.544G>C (p.Val182Leu)
 dbSNP
9g.77794480C>TCA194717254GNAQc.718G>A (p.Val240Met)
c.544G>A (p.Val182Met)
 dbSNP gnomAD v3 gnomAD v4
9g.77794481G>ACA194717255GNAQc.717C>T (p.Leu239=)
c.543C>T (p.Leu181=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.77794481G>CCA465578294GNAQc.717C>G (p.Leu239=)
c.543C>G (p.Leu181=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.77794481G=CA1857429368GNAQc.717C= (p.Leu239=)
c.543C= (p.Leu181=)
9g.77794481G>TCA465578295GNAQc.717C>A (p.Leu239=)
c.543C>A (p.Leu181=)
 dbSNP gnomAD v4
9g.77794483_77794484dupCA2690385157GNAQc.716_717dup (p.Val240SerfsTer?)
c.542_543dup (p.Val182SerfsTer?)
 gnomAD v4
9g.77794482A>CCA373997670GNAQc.716T>G (p.Leu239Arg)
c.542T>G (p.Leu181Arg)
9g.77794482A>GCA373997668GNAQc.716T>C (p.Leu239Pro)
c.542T>C (p.Leu181Pro)
9g.77794482A>TCA373997669GNAQc.716T>A (p.Leu239His)
c.542T>A (p.Leu181His)
 dbSNP
9g.77794483G>ACA373997671GNAQc.715C>T (p.Leu239Phe)
c.541C>T (p.Leu181Phe)
 dbSNP
9g.77794483G>CCA373997672GNAQc.715C>G (p.Leu239Val)
c.541C>G (p.Leu181Val)
 dbSNP
9g.77794483G>TCA373997673GNAQc.715C>A (p.Leu239Ile)
c.541C>A (p.Leu181Ile)
 dbSNP gnomAD v4
9g.77794484A>CCA465578296GNAQc.714T>G (p.Val238=)
c.540T>G (p.Val180=)
9g.77794484A>GCA465578297GNAQc.714T>C (p.Val238=)
c.540T>C (p.Val180=)
9g.77794484A>TCA465578298GNAQc.714T>A (p.Val238=)
c.540T>A (p.Val180=)
 dbSNP
9g.77794485A=CA1857429373GNAQc.713T= (p.Val238=)
c.539T= (p.Val180=)
9g.77794485A>CCA373997674GNAQc.713T>G (p.Val238Gly)
c.539T>G (p.Val180Gly)
9g.77794485A>GCA373997675GNAQc.713T>C (p.Val238Ala)
c.539T>C (p.Val180Ala)
 dbSNP
9g.77794485A>TCA373997676GNAQc.713T>A (p.Val238Asp)
c.539T>A (p.Val180Asp)
 dbSNP
9g.77794486C>ACA373997677GNAQc.712G>T (p.Val238Phe)
c.538G>T (p.Val180Phe)

Number of alleles fetched