Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30986606_30986633delCA8017997HSD3B7c.433_460del (p.Gly145CysfsTer?)
c.556_583del (p.Gly186CysfsTer?)
dbSNP ExAC gnomAD
16g.30986612G>ACA115827HSD3B7c.439G>A (p.Glu147Lys)
c.562G>A (p.Glu188Lys)
ClinVar dbSNP ExAC gnomAD COSMIC
16g.30986612G>CCA395640470HSD3B7c.439G>C (p.Glu147Gln)
c.562G>C (p.Glu188Gln)
16g.30986612G>TCA395640472HSD3B7c.439G>T (p.Glu147Ter)
c.562G>T (p.Glu188Ter)
16g.30986613A>CCA395640477HSD3B7c.440A>C (p.Glu147Ala)
c.563A>C (p.Glu188Ala)
16g.30986613A>GCA395640475HSD3B7c.440A>G (p.Glu147Gly)
c.563A>G (p.Glu188Gly)
16g.30986613A>TCA395640474HSD3B7c.440A>T (p.Glu147Val)
c.563A>T (p.Glu188Val)
16g.30986614A>CCA395640479HSD3B7c.441A>C (p.Glu147Asp)
c.564A>C (p.Glu188Asp)
16g.30986614A>GCA494920667HSD3B7c.441A>G (p.Glu147=)
c.564A>G (p.Glu188=)
16g.30986614A>TCA395640481HSD3B7c.441A>T (p.Glu147Asp)
c.564A>T (p.Glu188Asp)
16g.30986615G>ACA395640482HSD3B7c.442G>A (p.Asp148Asn)
c.565G>A (p.Asp189Asn)
16g.30986615G>CCA395640483HSD3B7c.442G>C (p.Asp148His)
c.565G>C (p.Asp189His)
16g.30986615G>TCA395640485HSD3B7c.442G>T (p.Asp148Tyr)
c.565G>T (p.Asp189Tyr)
16g.30986616A>CCA395640488HSD3B7c.443A>C (p.Asp148Ala)
c.566A>C (p.Asp189Ala)
16g.30986616A>GCA395640490HSD3B7c.443A>G (p.Asp148Gly)
c.566A>G (p.Asp189Gly)
16g.30986616A>TCA8017998HSD3B7c.443A>T (p.Asp148Val)
c.566A>T (p.Asp189Val)
dbSNP ExAC gnomAD
16g.30986617C>ACA395640492HSD3B7c.444C>A (p.Asp148Glu)
c.567C>A (p.Asp189Glu)
16g.30986617C>GCA395640494HSD3B7c.444C>G (p.Asp148Glu)
c.567C>G (p.Asp189Glu)
16g.30986617C>TCA494920669HSD3B7c.444C>T (p.Asp148=)
c.567C>T (p.Asp189=)
16g.30986618A>CCA395640497HSD3B7c.445A>C (p.Thr149Pro)
c.568A>C (p.Thr190Pro)
16g.30986618A>GCA395640498HSD3B7c.445A>G (p.Thr149Ala)
c.568A>G (p.Thr190Ala)
16g.30986618A>TCA8017999HSD3B7c.445A>T (p.Thr149Ser)
c.568A>T (p.Thr190Ser)
dbSNP ExAC gnomAD
16g.30986619C>ACA395640505HSD3B7c.446C>A (p.Thr149Asn)
c.569C>A (p.Thr190Asn)
gnomAD
16g.30986619C>GCA395640503HSD3B7c.446C>G (p.Thr149Ser)
c.569C>G (p.Thr190Ser)
16g.30986619C>TCA395640501HSD3B7c.446C>T (p.Thr149Ile)
c.569C>T (p.Thr190Ile)
16g.30986620C>ACA494920671HSD3B7c.447C>A (p.Thr149=)
c.570C>A (p.Thr190=)
16g.30986620C>GCA494920673HSD3B7c.447C>G (p.Thr149=)
c.570C>G (p.Thr190=)
16g.30986620C>TCA494920675HSD3B7c.447C>T (p.Thr149=)
c.570C>T (p.Thr190=)
COSMIC
16g.30986621C>ACA395640508HSD3B7c.448C>A (p.Pro150Thr)
c.571C>A (p.Pro191Thr)
16g.30986621C>GCA395640510HSD3B7c.448C>G (p.Pro150Ala)
c.571C>G (p.Pro191Ala)
gnomAD
16g.30986621C>TCA395640512HSD3B7c.448C>T (p.Pro150Ser)
c.571C>T (p.Pro191Ser)
16g.30986622C>ACA395640514HSD3B7c.449C>A (p.Pro150Gln)
c.572C>A (p.Pro191Gln)
16g.30986622C>GCA395640516HSD3B7c.449C>G (p.Pro150Arg)
c.572C>G (p.Pro191Arg)
16g.30986622C>TCA395640518HSD3B7c.449C>T (p.Pro150Leu)
c.572C>T (p.Pro191Leu)
16g.30986623A>CCA494920676HSD3B7c.450A>C (p.Pro150=)
c.573A>C (p.Pro191=)
16g.30986623A>GCA494920677HSD3B7c.450A>G (p.Pro150=)
c.573A>G (p.Pro191=)
16g.30986623A>TCA494920678HSD3B7c.450A>T (p.Pro150=)
c.573A>T (p.Pro191=)
16g.30986624T>ACA395640520HSD3B7c.451T>A (p.Tyr151Asn)
c.574T>A (p.Tyr192Asn)
16g.30986624T>CCA395640522HSD3B7c.451T>C (p.Tyr151His)
c.574T>C (p.Tyr192His)
16g.30986624T>GCA395640524HSD3B7c.451T>G (p.Tyr151Asp)
c.574T>G (p.Tyr192Asp)
16g.30986625A>CCA395640526HSD3B7c.452A>C (p.Tyr151Ser)
c.575A>C (p.Tyr192Ser)
16g.30986625A>GCA395640528HSD3B7c.452A>G (p.Tyr151Cys)
c.575A>G (p.Tyr192Cys)
16g.30986625A>TCA395640530HSD3B7c.452A>T (p.Tyr151Phe)
c.575A>T (p.Tyr192Phe)
16g.30986626delCA913190930HSD3B7c.453del (p.Tyr151Ter)
c.576del (p.Tyr192Ter)
ClinVar dbSNP
16g.30986626C>ACA395640535HSD3B7c.453C>A (p.Tyr151Ter)
c.576C>A (p.Tyr192Ter)
16g.30986626C>GCA395640533HSD3B7c.453C>G (p.Tyr151Ter)
c.576C>G (p.Tyr192Ter)
16g.30986626C>TCA8018000HSD3B7c.453C>T (p.Tyr151=)
c.576C>T (p.Tyr192=)
dbSNP ExAC gnomAD
16g.30986627G>ACA8018001HSD3B7c.454G>A (p.Glu152Lys)
c.577G>A (p.Glu193Lys)
ClinVar dbSNP ExAC gnomAD
16g.30986627G>CCA395640539HSD3B7c.454G>C (p.Glu152Gln)
c.577G>C (p.Glu193Gln)
16g.30986627G>TCA395640541HSD3B7c.454G>T (p.Glu152Ter)
c.577G>T (p.Glu193Ter)
COSMIC

Number of alleles fetched