Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30986512A>CCA395640321HSD3B7c.412A>C (p.Lys138Gln)
c.535A>C (p.Lys179Gln)
16g.30986512A>GCA395640320HSD3B7c.412A>G (p.Lys138Glu)
c.535A>G (p.Lys179Glu)
16g.30986512A>TCA395640319HSD3B7c.412A>T (p.Lys138Ter)
c.535A>T (p.Lys179Ter)
16g.30986512_30986513insCCTTCTACA719897694HSD3B7c.412_413insCCTTCTA (p.Lys138ThrfsTer3)
c.535_536insCCTTCTA (p.Lys179ThrfsTer3)
dbSNP
16g.30986513A>CCA395640322HSD3B7c.413A>C (p.Lys138Thr)
c.536A>C (p.Lys179Thr)
16g.30986513A>GCA395640323HSD3B7c.413A>G (p.Lys138Arg)
c.536A>G (p.Lys179Arg)
16g.30986513A>TCA395640325HSD3B7c.413A>T (p.Lys138Ile)
c.536A>T (p.Lys179Ile)
16g.30986514A>CCA395640327HSD3B7c.414A>C (p.Lys138Asn)
c.537A>C (p.Lys179Asn)
16g.30986514A>GCA494920633HSD3B7c.414A>G (p.Lys138=)
c.537A>G (p.Lys179=)
16g.30986514A>TCA395640328HSD3B7c.414A>T (p.Lys138Asn)
c.537A>T (p.Lys179Asn)
16g.30986515G>ACA8017984HSD3B7c.415G>A (p.Gly139Ser)
c.538G>A (p.Gly180Ser)
dbSNP ExAC gnomAD
16g.30986515G>CCA395640330HSD3B7c.415G>C (p.Gly139Arg)
c.538G>C (p.Gly180Arg)
16g.30986515G>TCA395640332HSD3B7c.415G>T (p.Gly139Cys)
c.538G>T (p.Gly180Cys)
16g.30986516G>ACA395640334HSD3B7c.416G>A (p.Gly139Asp)
c.539G>A (p.Gly180Asp)
16g.30986516G>CCA395640335HSD3B7c.416G>C (p.Gly139Ala)
c.539G>C (p.Gly180Ala)
16g.30986516G>TCA395640336HSD3B7c.416G>T (p.Gly139Val)
c.539G>T (p.Gly180Val)
16g.30986517T>ACA494920637HSD3B7c.417T>A (p.Gly139=)
c.540T>A (p.Gly180=)
16g.30986517T>CCA494920638HSD3B7c.417T>C (p.Gly139=)
c.540T>C (p.Gly180=)
16g.30986517T>GCA8017985HSD3B7c.417T>G (p.Gly139=)
c.540T>G (p.Gly180=)
dbSNP ExAC gnomAD
16g.30986518C>ACA395640342HSD3B7c.418C>A (p.His140Asn)
c.541C>A (p.His181Asn)
16g.30986518C>GCA395640340HSD3B7c.418C>G (p.His140Asp)
c.541C>G (p.His181Asp)
16g.30986518C>TCA395640338HSD3B7c.418C>T (p.His140Tyr)
c.541C>T (p.His181Tyr)
16g.30986519A>CCA395640343HSD3B7c.419A>C (p.His140Pro)
c.542A>C (p.His181Pro)
16g.30986519A>GCA395640345HSD3B7c.419A>G (p.His140Arg)
c.542A>G (p.His181Arg)
COSMIC
16g.30986519A>TCA395640347HSD3B7c.419A>T (p.His140Leu)
c.542A>T (p.His181Leu)
16g.30986520C>ACA395640349HSD3B7c.420C>A (p.His140Gln)
c.543C>A (p.His181Gln)
16g.30986520C>GCA395640350HSD3B7c.420C>G (p.His140Gln)
c.543C>G (p.His181Gln)
16g.30986520C>TCA494920641HSD3B7c.420C>T (p.His140=)
c.543C>T (p.His181=)
16g.30986521C>ACA395640351HSD3B7c.421C>A (p.Pro141Thr)
c.544C>A (p.Pro182Thr)
16g.30986521C>GCA395640352HSD3B7c.421C>G (p.Pro141Ala)
c.544C>G (p.Pro182Ala)
16g.30986521C>TCA395640354HSD3B7c.421C>T (p.Pro141Ser)
c.544C>T (p.Pro182Ser)
COSMIC
16g.30986522C>ACA395640356HSD3B7c.422C>A (p.Pro141His)
c.545C>A (p.Pro182His)
16g.30986522C>GCA395640358HSD3B7c.422C>G (p.Pro141Arg)
c.545C>G (p.Pro182Arg)
16g.30986522C>TCA395640359HSD3B7c.422C>T (p.Pro141Leu)
c.545C>T (p.Pro182Leu)
16g.30986523C>ACA8017986HSD3B7c.423C>A (p.Pro141=)
c.546C>A (p.Pro182=)
dbSNP ExAC gnomAD
16g.30986523C>GCA494920643HSD3B7c.423C>G (p.Pro141=)
c.546C>G (p.Pro182=)
16g.30986523C>TCA494920645HSD3B7c.423C>T (p.Pro141=)
c.546C>T (p.Pro182=)
gnomAD
16g.30986524T>ACA395640362HSD3B7c.424T>A (p.Phe142Ile)
c.547T>A (p.Phe183Ile)
16g.30986524T>CCA395640364HSD3B7c.424T>C (p.Phe142Leu)
c.547T>C (p.Phe183Leu)
16g.30986524T>GCA395640363HSD3B7c.424T>G (p.Phe142Val)
c.547T>G (p.Phe183Val)
16g.30986525T>ACA395640366HSD3B7c.425T>A (p.Phe142Tyr)
c.548T>A (p.Phe183Tyr)
16g.30986525T>CCA395640369HSD3B7c.425T>C (p.Phe142Ser)
c.548T>C (p.Phe183Ser)
16g.30986525T>GCA395640368HSD3B7c.425T>G (p.Phe142Cys)
c.548T>G (p.Phe183Cys)
16g.30986526C>ACA395640371HSD3B7c.426C>A (p.Phe142Leu)
c.549C>A (p.Phe183Leu)
16g.30986526C>GCA395640374HSD3B7c.426C>G (p.Phe142Leu)
c.549C>G (p.Phe183Leu)
16g.30986526C>TCA280561940HSD3B7c.426C>T (p.Phe142=)
c.549C>T (p.Phe183=)
dbSNP
16g.30986527T>ACA395640376HSD3B7c.427T>A (p.Tyr143Asn)
c.550T>A (p.Tyr184Asn)
16g.30986527T>CCA395640379HSD3B7c.427T>C (p.Tyr143His)
c.550T>C (p.Tyr184His)
16g.30986527T>GCA395640378HSD3B7c.427T>G (p.Tyr143Asp)
c.550T>G (p.Tyr184Asp)
16g.30986528A>CCA395640381HSD3B7c.428A>C (p.Tyr143Ser)
c.551A>C (p.Tyr184Ser)

Number of alleles fetched