Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30986373_30986390dupCA976326864HSD3B7c.323-50_323-33dup (n.323-50_323-33dup)
c.446-50_446-33dup (n.446-50_446-33dup)
 dbSNP gnomAD v3 gnomAD v4
16g.30986379_30986396delCA2632803410HSD3B7c.323-44_323-27del (n.323-44_323-27del)
c.446-44_446-27del (n.446-44_446-27del)
 gnomAD v4
16g.30986384G>CCA8017960HSD3B7c.323-39G>C (n.323-39G>C)
c.446-39G>C (n.446-39G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986384G=CA2216821612HSD3B7c.323-39G= (n.323-39G=)
c.446-39G= (n.446-39G=)
16g.30986387G>ACA2216821618HSD3B7c.323-36G>A (n.323-36G>A)
c.446-36G>A (n.446-36G>A)
 dbSNP gnomAD v4
16g.30986387G>CCA2632803436HSD3B7c.323-36G>C (n.323-36G>C)
c.446-36G>C (n.446-36G>C)
 gnomAD v4
16g.30986387G=CA2216821616HSD3B7c.323-36G= (n.323-36G=)
c.446-36G= (n.446-36G=)
16g.30986387G>TCA622171132HSD3B7c.323-36G>T (n.323-36G>T)
c.446-36G>T (n.446-36G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.30986389A=CA2216821623HSD3B7c.323-34A= (n.323-34A=)
c.446-34A= (n.446-34A=)
16g.30986389A>GCA622171133HSD3B7c.323-34A>G (n.323-34A>G)
c.446-34A>G (n.446-34A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986389A>TCA2632803441HSD3B7c.323-34A>T (n.323-34A>T)
c.446-34A>T (n.446-34A>T)
 gnomAD v4
16g.30986391C>ACA2216821627HSD3B7c.323-32C>A (n.323-32C>A)
c.446-32C>A (n.446-32C>A)
 dbSNP gnomAD v4
16g.30986391C=CA2216821626HSD3B7c.323-32C= (n.323-32C=)
c.446-32C= (n.446-32C=)
16g.30986391C>GCA622171134HSD3B7c.323-32C>G (n.323-32C>G)
c.446-32C>G (n.446-32C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.30986391C>TCA280561800HSD3B7c.323-32C>T (n.323-32C>T)
c.446-32C>T (n.446-32C>T)
 dbSNP
16g.30986392T>ACA8017961HSD3B7c.323-31T>A (n.323-31T>A)
c.446-31T>A (n.446-31T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986392T=CA2216821633HSD3B7c.323-31T= (n.323-31T=)
c.446-31T= (n.446-31T=)
16g.30986393G>CCA2632803450HSD3B7c.323-30G>C (n.323-30G>C)
c.446-30G>C (n.446-30G>C)
 gnomAD v4
16g.30986394C>ACA2632803454HSD3B7c.323-29C>A (n.323-29C>A)
c.446-29C>A (n.446-29C>A)
 gnomAD v4
16g.30986394C>TCA2632803452HSD3B7c.323-29C>T (n.323-29C>T)
c.446-29C>T (n.446-29C>T)
 gnomAD v4
16g.30986395A=CA2216821638HSD3B7c.323-28A= (n.323-28A=)
c.446-28A= (n.446-28A=)
16g.30986395A>GCA719897518HSD3B7c.323-28A>G (n.323-28A>G)
c.446-28A>G (n.446-28A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.30986396G>CCA8017962HSD3B7c.323-27G>C (n.323-27G>C)
c.446-27G>C (n.446-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986396G=CA2216821641HSD3B7c.323-27G= (n.323-27G=)
c.446-27G= (n.446-27G=)
16g.30986397C=CA2216821652HSD3B7c.323-26C= (n.323-26C=)
c.446-26C= (n.446-26C=)
16g.30986397C>TCA622171135HSD3B7c.323-26C>T (n.323-26C>T)
c.446-26C>T (n.446-26C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.30986400G>CCA719897524HSD3B7c.323-23G>C (n.323-23G>C)
c.446-23G>C (n.446-23G>C)
 dbSNP
16g.30986400G=CA2216821655HSD3B7c.323-23G= (n.323-23G=)
c.446-23G= (n.446-23G=)
16g.30986401G>ACA622171136HSD3B7c.323-22G>A (n.323-22G>A)
c.446-22G>A (n.446-22G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.30986401G=CA2216821659HSD3B7c.323-22G= (n.323-22G=)
c.446-22G= (n.446-22G=)
16g.30986405C>ACA2632803460HSD3B7c.323-18C>A (n.323-18C>A)
c.446-18C>A (n.446-18C>A)
 gnomAD v4
16g.30986405C=CA2216821662HSD3B7c.323-18C= (n.323-18C=)
c.446-18C= (n.446-18C=)
16g.30986405C>TCA8017963HSD3B7c.323-18C>T (n.323-18C>T)
c.446-18C>T (n.446-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986406G>ACA8017964HSD3B7c.323-17G>A (n.323-17G>A)
c.446-17G>A (n.446-17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986406G>CCA8017965HSD3B7c.323-17G>C (n.323-17G>C)
c.446-17G>C (n.446-17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986406G=CA2216821664HSD3B7c.323-17G= (n.323-17G=)
c.446-17G= (n.446-17G=)
16g.30986407C=CA2216821672HSD3B7c.323-16C= (n.323-16C=)
c.446-16C= (n.446-16C=)
16g.30986407C>TCA719897529HSD3B7c.323-16C>T (n.323-16C>T)
c.446-16C>T (n.446-16C>T)
 dbSNP
16g.30986414_30986416delCA2632803468HSD3B7c.323-9_323-7del (n.323-9_323-7del)
c.446-9_446-7del (n.446-9_446-7del)
 gnomAD v4
16g.30986408C>ACA2806494002HSD3B7c.323-15C>A (n.323-15C>A)
c.446-15C>A (n.446-15C>A)
16g.30986408C=CA2216821677HSD3B7c.323-15C= (n.323-15C=)
c.446-15C= (n.446-15C=)
16g.30986408C>TCA622171137HSD3B7c.323-15C>T (n.323-15C>T)
c.446-15C>T (n.446-15C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.30986409T>GCA8017966HSD3B7c.323-14T>G (n.323-14T>G)
c.446-14T>G (n.446-14T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986409T=CA2216821682HSD3B7c.323-14T= (n.323-14T=)
c.446-14T= (n.446-14T=)
16g.30986410C=CA2216821686HSD3B7c.323-13C= (n.323-13C=)
c.446-13C= (n.446-13C=)
16g.30986410C>TCA2216821688HSD3B7c.323-13C>T (n.323-13C>T)
c.446-13C>T (n.446-13C>T)
 dbSNP gnomAD v4
16g.30986411C>ACA2806494003HSD3B7c.323-12C>A (n.323-12C>A)
c.446-12C>A (n.446-12C>A)
16g.30986411C>TCA2632803484HSD3B7c.323-12C>T (n.323-12C>T)
c.446-12C>T (n.446-12C>T)
 gnomAD v4
16g.30986412T>CCA622171138HSD3B7c.323-11T>C (n.323-11T>C)
c.446-11T>C (n.446-11T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.30986412T=CA2216821691HSD3B7c.323-11T= (n.323-11T=)
c.446-11T= (n.446-11T=)
16g.30986413C=CA2216821693HSD3B7c.323-10C= (n.323-10C=)
c.446-10C= (n.446-10C=)
16g.30986413C>TCA719897534HSD3B7c.323-10C>T (n.323-10C>T)
c.446-10C>T (n.446-10C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.30986416C>ACA2806494004HSD3B7c.323-7C>A (n.323-7C>A)
c.446-7C>A (n.446-7C>A)
16g.30986416C=CA2216821694HSD3B7c.323-7C= (n.323-7C=)
c.446-7C= (n.446-7C=)
16g.30986416C>TCA2216821695HSD3B7c.323-7C>T (n.323-7C>T)
c.446-7C>T (n.446-7C>T)
 dbSNP
16g.30986418G>ACA2632803488HSD3B7c.323-5G>A (n.323-5G>A)
c.446-5G>A (n.446-5G>A)
 gnomAD v4
16g.30986420C>ACA622171139HSD3B7c.323-3C>A (n.323-3C>A)
c.446-3C>A (n.446-3C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986420C=CA2216821699HSD3B7c.323-3C= (n.323-3C=)
c.446-3C= (n.446-3C=)
16g.30986420C>GCA2806494005HSD3B7c.323-3C>G (n.323-3C>G)
c.446-3C>G (n.446-3C>G)
16g.30986420C>TCA976326885HSD3B7c.323-3C>T (n.323-3C>T)
c.446-3C>T (n.446-3C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.30986421A>CCA395639781HSD3B7c.323-2A>C (n.323-2A>C)
c.446-2A>C (n.446-2A>C)
16g.30986421A>GCA395639783HSD3B7c.323-2A>G (n.323-2A>G)
c.446-2A>G (n.446-2A>G)
16g.30986421A>TCA395639785HSD3B7c.323-2A>T (n.323-2A>T)
c.446-2A>T (n.446-2A>T)
16g.30986422_30986425dupCA622171140HSD3B7c.323-1_325dup
c.446-1_448dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986422G>ACA395639790HSD3B7c.323-1G>A (n.323-1G>A)
c.446-1G>A (n.446-1G>A)
 gnomAD v4
16g.30986422G>CCA395639786HSD3B7c.323-1G>C (n.323-1G>C)
c.446-1G>C (n.446-1G>C)
 gnomAD v4
16g.30986422G=CA2216821708HSD3B7c.323-1G= (n.323-1G=)
c.446-1G= (n.446-1G=)
16g.30986422G>TCA395639788HSD3B7c.323-1G>T (n.323-1G>T)
c.446-1G>T (n.446-1G>T)
 dbSNP gnomAD v4
16g.30986423G>ACA395639792HSD3B7c.323G>A (p.Gly108Asp)
c.446G>A (p.Gly149Asp)
16g.30986423G>CCA395639795HSD3B7c.323G>C (p.Gly108Ala)
c.446G>C (p.Gly149Ala)
 gnomAD v4
16g.30986423G=CA2216821711HSD3B7c.323G= (p.Gly108=)
c.446G= (p.Gly149=)
16g.30986423G>TCA280561825HSD3B7c.323G>T (p.Gly108Val)
c.446G>T (p.Gly149Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.30986424T>ACA494920026HSD3B7c.324T>A (p.Gly108=)
c.447T>A (p.Gly149=)
16g.30986424T>CCA494920025HSD3B7c.324T>C (p.Gly108=)
c.447T>C (p.Gly149=)
 dbSNP
16g.30986424T>GCA494920024HSD3B7c.324T>G (p.Gly108=)
c.447T>G (p.Gly149=)
16g.30986424T=CA2216821712HSD3B7c.324T= (p.Gly108=)
c.447T= (p.Gly149=)
16g.30986425A>CCA395639798HSD3B7c.325A>C (p.Thr109Pro)
c.448A>C (p.Thr150Pro)
16g.30986425A>GCA395639800HSD3B7c.325A>G (p.Thr109Ala)
c.448A>G (p.Thr150Ala)
16g.30986425A>TCA395639802HSD3B7c.325A>T (p.Thr109Ser)
c.448A>T (p.Thr150Ser)
16g.30986426C>ACA395639804HSD3B7c.326C>A (p.Thr109Asn)
c.449C>A (p.Thr150Asn)
16g.30986426C>GCA395639806HSD3B7c.326C>G (p.Thr109Ser)
c.449C>G (p.Thr150Ser)
16g.30986426C>TCA395639807HSD3B7c.326C>T (p.Thr109Ile)
c.449C>T (p.Thr150Ile)
16g.30986427C>ACA494920027HSD3B7c.327C>A (p.Thr109=)
c.450C>A (p.Thr150=)
 gnomAD v4
16g.30986427C=CA2216821715HSD3B7c.327C= (p.Thr109=)
c.450C= (p.Thr150=)
16g.30986427C>GCA494920028HSD3B7c.327C>G (p.Thr109=)
c.450C>G (p.Thr150=)
16g.30986427C>TCA494920029HSD3B7c.327C>T (p.Thr109=)
c.450C>T (p.Thr150=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986428C>ACA494920030HSD3B7c.328C>A (p.Arg110=)
c.451C>A (p.Arg151=)
16g.30986428C=CA2216821719HSD3B7c.328C= (p.Arg110=)
c.451C= (p.Arg151=)
16g.30986428C>GCA395639810HSD3B7c.328C>G (p.Arg110Gly)
c.451C>G (p.Arg151Gly)
16g.30986428C>TCA8017967HSD3B7c.328C>T (p.Arg110Trp)
c.451C>T (p.Arg151Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986429G>ACA8017968HSD3B7c.329G>A (p.Arg110Gln)
c.452G>A (p.Arg151Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986429G>CCA395639816HSD3B7c.329G>C (p.Arg110Pro)
c.452G>C (p.Arg151Pro)
16g.30986429G=CA2216821724HSD3B7c.329G= (p.Arg110=)
c.452G= (p.Arg151=)
16g.30986429G>TCA395639814HSD3B7c.329G>T (p.Arg110Leu)
c.452G>T (p.Arg151Leu)
16g.30986430G>ACA494920031HSD3B7c.330G>A (p.Arg110=)
c.453G>A (p.Arg151=)
16g.30986430G>CCA494920032HSD3B7c.330G>C (p.Arg110=)
c.453G>C (p.Arg151=)
16g.30986430G>TCA494920033HSD3B7c.330G>T (p.Arg110=)
c.453G>T (p.Arg151=)
16g.30986431A=CA2216821733HSD3B7c.331A= (p.Asn111=)
c.454A= (p.Asn152=)
16g.30986431A>CCA8017969HSD3B7c.331A>C (p.Asn111His)
c.454A>C (p.Asn152His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986431A>GCA395639820HSD3B7c.331A>G (p.Asn111Asp)
c.454A>G (p.Asn152Asp)
16g.30986431A>TCA395639821HSD3B7c.331A>T (p.Asn111Tyr)
c.454A>T (p.Asn152Tyr)
16g.30986432A>CCA395639822HSD3B7c.332A>C (p.Asn111Thr)
c.455A>C (p.Asn152Thr)
16g.30986432A>GCA395639824HSD3B7c.332A>G (p.Asn111Ser)
c.455A>G (p.Asn152Ser)
16g.30986432A>TCA395639826HSD3B7c.332A>T (p.Asn111Ile)
c.455A>T (p.Asn152Ile)
16g.30986433C>ACA395639828HSD3B7c.333C>A (p.Asn111Lys)
c.456C>A (p.Asn152Lys)
 gnomAD v4
16g.30986433C=CA2216821741HSD3B7c.333C= (p.Asn111=)
c.456C= (p.Asn152=)
16g.30986433C>GCA395639830HSD3B7c.333C>G (p.Asn111Lys)
c.456C>G (p.Asn152Lys)
 dbSNP
16g.30986433C>TCA8017970HSD3B7c.333C>T (p.Asn111=)
c.456C>T (p.Asn152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986434G>ACA8017971HSD3B7c.334G>A (p.Val112Met)
c.457G>A (p.Val153Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986434G>CCA8017972HSD3B7c.334G>C (p.Val112Leu)
c.457G>C (p.Val153Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986434G=CA2216821747HSD3B7c.334G= (p.Val112=)
c.457G= (p.Val153=)
16g.30986434G>TCA395639834HSD3B7c.334G>T (p.Val112Leu)
c.457G>T (p.Val153Leu)
16g.30986435T>ACA395639839HSD3B7c.335T>A (p.Val112Glu)
c.458T>A (p.Val153Glu)
16g.30986435T>CCA395639841HSD3B7c.335T>C (p.Val112Ala)
c.458T>C (p.Val153Ala)
 gnomAD v4
16g.30986435T>GCA395639837HSD3B7c.335T>G (p.Val112Gly)
c.458T>G (p.Val153Gly)
16g.30986436G>ACA494920034HSD3B7c.336G>A (p.Val112=)
c.459G>A (p.Val153=)
16g.30986436G>CCA494920035HSD3B7c.336G>C (p.Val112=)
c.459G>C (p.Val153=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986436G=CA2216821758HSD3B7c.336G= (p.Val112=)
c.459G= (p.Val153=)
16g.30986436G>TCA494920036HSD3B7c.336G>T (p.Val112=)
c.459G>T (p.Val153=)
16g.30986437A>CCA395639843HSD3B7c.337A>C (p.Ile113Leu)
c.460A>C (p.Ile154Leu)
16g.30986437A>GCA395639845HSD3B7c.337A>G (p.Ile113Val)
c.460A>G (p.Ile154Val)
16g.30986437A>TCA395639847HSD3B7c.337A>T (p.Ile113Phe)
c.460A>T (p.Ile154Phe)
16g.30986438T>ACA395639849HSD3B7c.338T>A (p.Ile113Asn)
c.461T>A (p.Ile154Asn)
16g.30986438T>CCA395639851HSD3B7c.338T>C (p.Ile113Thr)
c.461T>C (p.Ile154Thr)
 dbSNP COSMIC
16g.30986438T>GCA395639853HSD3B7c.338T>G (p.Ile113Ser)
c.461T>G (p.Ile154Ser)
16g.30986438T=CA2216821762HSD3B7c.338T= (p.Ile113=)
c.461T= (p.Ile154=)
16g.30986439C>ACA494920040HSD3B7c.339C>A (p.Ile113=)
c.462C>A (p.Ile154=)
16g.30986439C=CA2216821767HSD3B7c.339C= (p.Ile113=)
c.462C= (p.Ile154=)
16g.30986439C>GCA395639855HSD3B7c.339C>G (p.Ile113Met)
c.462C>G (p.Ile154Met)
16g.30986439C>TCA8017973HSD3B7c.339C>T (p.Ile113=)
c.462C>T (p.Ile154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986440G>ACA280561851HSD3B7c.340G>A (p.Glu114Lys)
c.463G>A (p.Glu155Lys)
 dbSNP gnomAD v3 gnomAD v4
16g.30986440G>CCA395639859HSD3B7c.340G>C (p.Glu114Gln)
c.463G>C (p.Glu155Gln)
 COSMIC
16g.30986440G=CA2216821773HSD3B7c.340G= (p.Glu114=)
c.463G= (p.Glu155=)
16g.30986440G>TCA395639862HSD3B7c.340G>T (p.Glu114Ter)
c.463G>T (p.Glu155Ter)
16g.30986441A>CCA395639864HSD3B7c.341A>C (p.Glu114Ala)
c.464A>C (p.Glu155Ala)
16g.30986441A>GCA395639866HSD3B7c.341A>G (p.Glu114Gly)
c.464A>G (p.Glu155Gly)
16g.30986441A>TCA395639867HSD3B7c.341A>T (p.Glu114Val)
c.464A>T (p.Glu155Val)
16g.30986442G>ACA494920041HSD3B7c.342G>A (p.Glu114=)
c.465G>A (p.Glu155=)
16g.30986442G>CCA395639870HSD3B7c.342G>C (p.Glu114Asp)
c.465G>C (p.Glu155Asp)
16g.30986442G>TCA395639869HSD3B7c.342G>T (p.Glu114Asp)
c.465G>T (p.Glu155Asp)
16g.30986443G>ACA395639872HSD3B7c.343G>A (p.Ala115Thr)
c.466G>A (p.Ala156Thr)
16g.30986443G>CCA395639875HSD3B7c.343G>C (p.Ala115Pro)
c.466G>C (p.Ala156Pro)
16g.30986443G>TCA395639874HSD3B7c.343G>T (p.Ala115Ser)
c.466G>T (p.Ala156Ser)
 gnomAD v4
16g.30986444C>ACA395639876HSD3B7c.344C>A (p.Ala115Asp)
c.467C>A (p.Ala156Asp)
 gnomAD v4
16g.30986444C>GCA395639878HSD3B7c.344C>G (p.Ala115Gly)
c.467C>G (p.Ala156Gly)
16g.30986444C>TCA395639880HSD3B7c.344C>T (p.Ala115Val)
c.467C>T (p.Ala156Val)
16g.30986445T>ACA494920042HSD3B7c.345T>A (p.Ala115=)
c.468T>A (p.Ala156=)
16g.30986445T>CCA494920044HSD3B7c.345T>C (p.Ala115=)
c.468T>C (p.Ala156=)
 COSMIC
16g.30986445T>GCA494920043HSD3B7c.345T>G (p.Ala115=)
c.468T>G (p.Ala156=)
16g.30986446T>ACA395639882HSD3B7c.346T>A (p.Cys116Ser)
c.469T>A (p.Cys157Ser)
16g.30986446T>CCA280561857HSD3B7c.346T>C (p.Cys116Arg)
c.469T>C (p.Cys157Arg)
 dbSNP
16g.30986446T>GCA395639885HSD3B7c.346T>G (p.Cys116Gly)
c.469T>G (p.Cys157Gly)
16g.30986446T=CA2216821774HSD3B7c.346T= (p.Cys116=)
c.469T= (p.Cys157=)
16g.30986447G>ACA395639887HSD3B7c.347G>A (p.Cys116Tyr)
c.470G>A (p.Cys157Tyr)
 dbSNP
16g.30986447G>CCA395639889HSD3B7c.347G>C (p.Cys116Ser)
c.470G>C (p.Cys157Ser)
16g.30986447G=CA2216821781HSD3B7c.347G= (p.Cys116=)
c.470G= (p.Cys157=)
16g.30986447G>TCA395639891HSD3B7c.347G>T (p.Cys116Phe)
c.470G>T (p.Cys157Phe)
 dbSNP gnomAD v2
16g.30986448T>ACA395639893HSD3B7c.348T>A (p.Cys116Ter)
c.471T>A (p.Cys157Ter)
 dbSNP gnomAD v3 gnomAD v4
16g.30986448T>CCA494920046HSD3B7c.348T>C (p.Cys116=)
c.471T>C (p.Cys157=)
 gnomAD v4
16g.30986448T>GCA395639895HSD3B7c.348T>G (p.Cys116Trp)
c.471T>G (p.Cys157Trp)
16g.30986448T=CA2216821786HSD3B7c.348T= (p.Cys116=)
c.471T= (p.Cys157=)
16g.30986449G>ACA395639902HSD3B7c.349G>A (p.Val117Met)
c.472G>A (p.Val158Met)
16g.30986449G>CCA395639900HSD3B7c.349G>C (p.Val117Leu)
c.472G>C (p.Val158Leu)
16g.30986449G>TCA395639898HSD3B7c.349G>T (p.Val117Leu)
c.472G>T (p.Val158Leu)
16g.30986450T>ACA395639904HSD3B7c.350T>A (p.Val117Glu)
c.473T>A (p.Val158Glu)
16g.30986450T>CCA395639905HSD3B7c.350T>C (p.Val117Ala)
c.473T>C (p.Val158Ala)
16g.30986450T>GCA395639907HSD3B7c.350T>G (p.Val117Gly)
c.473T>G (p.Val158Gly)
16g.30986451G>ACA8017974HSD3B7c.351G>A (p.Val117=)
c.474G>A (p.Val158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986451G>CCA494920050HSD3B7c.351G>C (p.Val117=)
c.474G>C (p.Val158=)
16g.30986451G=CA2216821791HSD3B7c.351G= (p.Val117=)
c.474G= (p.Val158=)
16g.30986451G>TCA494920052HSD3B7c.351G>T (p.Val117=)
c.474G>T (p.Val158=)
 gnomAD v4
16g.30986452C>ACA395639909HSD3B7c.352C>A (p.Gln118Lys)
c.475C>A (p.Gln159Lys)
16g.30986452C>GCA395639911HSD3B7c.352C>G (p.Gln118Glu)
c.475C>G (p.Gln159Glu)
16g.30986452C>TCA395639913HSD3B7c.352C>T (p.Gln118Ter)
c.475C>T (p.Gln159Ter)
16g.30986453A>CCA395639914HSD3B7c.353A>C (p.Gln118Pro)
c.476A>C (p.Gln159Pro)
16g.30986453A>GCA395639916HSD3B7c.353A>G (p.Gln118Arg)
c.476A>G (p.Gln159Arg)
16g.30986453A>TCA395639917HSD3B7c.353A>T (p.Gln118Leu)
c.476A>T (p.Gln159Leu)
16g.30986454G>ACA494920055HSD3B7c.354G>A (p.Gln118=)
c.477G>A (p.Gln159=)
 dbSNP
16g.30986454G>CCA395639918HSD3B7c.354G>C (p.Gln118His)
c.477G>C (p.Gln159His)
16g.30986454G=CA2216821799HSD3B7c.354G= (p.Gln118=)
c.477G= (p.Gln159=)
16g.30986454G>TCA395639921HSD3B7c.354G>T (p.Gln118His)
c.477G>T (p.Gln159His)
 gnomAD v4
16g.30986455A>CCA395639925HSD3B7c.355A>C (p.Thr119Pro)
c.478A>C (p.Thr160Pro)
16g.30986455A>GCA395639926HSD3B7c.355A>G (p.Thr119Ala)
c.478A>G (p.Thr160Ala)
16g.30986455A>TCA395639923HSD3B7c.355A>T (p.Thr119Ser)
c.478A>T (p.Thr160Ser)
16g.30986456C>ACA395639928HSD3B7c.356C>A (p.Thr119Asn)
c.479C>A (p.Thr160Asn)
16g.30986456C>GCA395639930HSD3B7c.356C>G (p.Thr119Ser)
c.479C>G (p.Thr160Ser)
16g.30986456C>TCA395639931HSD3B7c.356C>T (p.Thr119Ile)
c.479C>T (p.Thr160Ile)
 gnomAD v4
16g.30986457C>ACA494920059HSD3B7c.357C>A (p.Thr119=)
c.480C>A (p.Thr160=)
16g.30986457C=CA2216821814HSD3B7c.357C= (p.Thr119=)
c.480C= (p.Thr160=)
16g.30986457C>GCA8017976HSD3B7c.357C>G (p.Thr119=)
c.480C>G (p.Thr160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986457C>TCA8017975HSD3B7c.357C>T (p.Thr119=)
c.480C>T (p.Thr160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986458G>ACA8017977HSD3B7c.358G>A (p.Gly120Arg)
c.481G>A (p.Gly161Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986458G>CCA395639939HSD3B7c.358G>C (p.Gly120Arg)
c.481G>C (p.Gly161Arg)
16g.30986458G=CA2216821828HSD3B7c.358G= (p.Gly120=)
c.481G= (p.Gly161=)
16g.30986458G>TCA395639938HSD3B7c.358G>T (p.Gly120Ter)
c.481G>T (p.Gly161Ter)
16g.30986459G>ACA395639943HSD3B7c.359G>A (p.Gly120Glu)
c.482G>A (p.Gly161Glu)
 gnomAD v4 COSMIC
16g.30986459G>CCA395639945HSD3B7c.359G>C (p.Gly120Ala)
c.482G>C (p.Gly161Ala)
16g.30986459G>TCA395639947HSD3B7c.359G>T (p.Gly120Val)
c.482G>T (p.Gly161Val)
16g.30986460A>CCA494920063HSD3B7c.360A>C (p.Gly120=)
c.483A>C (p.Gly161=)
16g.30986460A>GCA494920064HSD3B7c.360A>G (p.Gly120=)
c.483A>G (p.Gly161=)
16g.30986460A>TCA494920062HSD3B7c.360A>T (p.Gly120=)
c.483A>T (p.Gly161=)
16g.30986461A>CCA395639948HSD3B7c.361A>C (p.Thr121Pro)
c.484A>C (p.Thr162Pro)
16g.30986461A>GCA395639950HSD3B7c.361A>G (p.Thr121Ala)
c.484A>G (p.Thr162Ala)
16g.30986461A>TCA395639952HSD3B7c.361A>T (p.Thr121Ser)
c.484A>T (p.Thr162Ser)
16g.30986462C>ACA395639954HSD3B7c.362C>A (p.Thr121Lys)
c.485C>A (p.Thr162Lys)
16g.30986462C>GCA395639958HSD3B7c.362C>G (p.Thr121Arg)
c.485C>G (p.Thr162Arg)
16g.30986462C>TCA395639956HSD3B7c.362C>T (p.Thr121Ile)
c.485C>T (p.Thr162Ile)
16g.30986463A>CCA494920069HSD3B7c.363A>C (p.Thr121=)
c.486A>C (p.Thr162=)
16g.30986463A>GCA494920071HSD3B7c.363A>G (p.Thr121=)
c.486A>G (p.Thr162=)
16g.30986463A>TCA494920072HSD3B7c.363A>T (p.Thr121=)
c.486A>T (p.Thr162=)
16g.30986464C>ACA494920073HSD3B7c.364C>A (p.Arg122=)
c.487C>A (p.Arg163=)
16g.30986464C=CA2216821832HSD3B7c.364C= (p.Arg122=)
c.487C= (p.Arg163=)
16g.30986464C>GCA395639960HSD3B7c.364C>G (p.Arg122Gly)
c.487C>G (p.Arg163Gly)
16g.30986464C>TCA8017978HSD3B7c.364C>T (p.Arg122Trp)
c.487C>T (p.Arg163Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986465G>ACA8017979HSD3B7c.365G>A (p.Arg122Gln)
c.488G>A (p.Arg163Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986465G>CCA395639964HSD3B7c.365G>C (p.Arg122Pro)
c.488G>C (p.Arg163Pro)
16g.30986465G=CA2216821836HSD3B7c.365G= (p.Arg122=)
c.488G= (p.Arg163=)
16g.30986465G>TCA395639966HSD3B7c.365G>T (p.Arg122Leu)
c.488G>T (p.Arg163Leu)
16g.30986466G>ACA494920077HSD3B7c.366G>A (p.Arg122=)
c.489G>A (p.Arg163=)
16g.30986466G>CCA494920075HSD3B7c.366G>C (p.Arg122=)
c.489G>C (p.Arg163=)
16g.30986466G=CA2216821849HSD3B7c.366G= (p.Arg122=)
c.489G= (p.Arg163=)
16g.30986466G>TCA494920076HSD3B7c.366G>T (p.Arg122=)
c.489G>T (p.Arg163=)
 dbSNP gnomAD v3 gnomAD v4
16g.30986467T>ACA395639968HSD3B7c.367T>A (p.Phe123Ile)
c.490T>A (p.Phe164Ile)
16g.30986467T>CCA8017980HSD3B7c.367T>C (p.Phe123Leu)
c.490T>C (p.Phe164Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986467T>GCA395639970HSD3B7c.367T>G (p.Phe123Val)
c.490T>G (p.Phe164Val)
16g.30986467T=CA2216821853HSD3B7c.367T= (p.Phe123=)
c.490T= (p.Phe164=)
16g.30986468T>ACA395639972HSD3B7c.368T>A (p.Phe123Tyr)
c.491T>A (p.Phe164Tyr)
16g.30986468T>CCA395639974HSD3B7c.368T>C (p.Phe123Ser)
c.491T>C (p.Phe164Ser)
16g.30986468T>GCA395639976HSD3B7c.368T>G (p.Phe123Cys)
c.491T>G (p.Phe164Cys)
16g.30986469C>ACA395639978HSD3B7c.369C>A (p.Phe123Leu)
c.492C>A (p.Phe164Leu)
16g.30986469C=CA2216821858HSD3B7c.369C= (p.Phe123=)
c.492C= (p.Phe164=)
16g.30986469C>GCA395639980HSD3B7c.369C>G (p.Phe123Leu)
c.492C>G (p.Phe164Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.30986469C>TCA494920081HSD3B7c.369C>T (p.Phe123=)
c.492C>T (p.Phe164=)
16g.30986470C>ACA395639982HSD3B7c.370C>A (p.Leu124Met)
c.493C>A (p.Leu165Met)
 COSMIC
16g.30986470C>GCA395639984HSD3B7c.370C>G (p.Leu124Val)
c.493C>G (p.Leu165Val)
16g.30986470C>TCA494920083HSD3B7c.370C>T (p.Leu124=)
c.493C>T (p.Leu165=)
16g.30986471T>ACA395639986HSD3B7c.371T>A (p.Leu124Gln)
c.494T>A (p.Leu165Gln)
16g.30986471T>CCA395639989HSD3B7c.371T>C (p.Leu124Pro)
c.494T>C (p.Leu165Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.30986471T>GCA395639988HSD3B7c.371T>G (p.Leu124Arg)
c.494T>G (p.Leu165Arg)
16g.30986471T=CA2216821865HSD3B7c.371T= (p.Leu124=)
c.494T= (p.Leu165=)
16g.30986472G>ACA494920087HSD3B7c.372G>A (p.Leu124=)
c.495G>A (p.Leu165=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986472G>CCA494920084HSD3B7c.372G>C (p.Leu124=)
c.495G>C (p.Leu165=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986472G=CA2216821874HSD3B7c.372G= (p.Leu124=)
c.495G= (p.Leu165=)
16g.30986472G>TCA494920086HSD3B7c.372G>T (p.Leu124=)
c.495G>T (p.Leu165=)
16g.30986473delCA2575973588HSD3B7c.373del (p.Val125SerfsTer?)
c.496del (p.Val166SerfsTer?)
16g.30986473G>ACA395639991HSD3B7c.373G>A (p.Val125Ile)
c.496G>A (p.Val166Ile)
 gnomAD v4
16g.30986473G>CCA395639993HSD3B7c.373G>C (p.Val125Leu)
c.496G>C (p.Val166Leu)
16g.30986473G>TCA395639995HSD3B7c.373G>T (p.Val125Phe)
c.496G>T (p.Val166Phe)
16g.30986474T>ACA395639996HSD3B7c.374T>A (p.Val125Asp)
c.497T>A (p.Val166Asp)
16g.30986474T>CCA395639998HSD3B7c.374T>C (p.Val125Ala)
c.497T>C (p.Val166Ala)
16g.30986474T>GCA395640000HSD3B7c.374T>G (p.Val125Gly)
c.497T>G (p.Val166Gly)
16g.30986475C>ACA494920088HSD3B7c.375C>A (p.Val125=)
c.498C>A (p.Val166=)
 gnomAD v4
16g.30986475C=CA2216821877HSD3B7c.375C= (p.Val125=)
c.498C= (p.Val166=)
16g.30986475C>GCA494920089HSD3B7c.375C>G (p.Val125=)
c.498C>G (p.Val166=)
16g.30986475C>TCA494920091HSD3B7c.375C>T (p.Val125=)
c.498C>T (p.Val166=)
 dbSNP gnomAD v4
16g.30986476T>ACA395640002HSD3B7c.376T>A (p.Tyr126Asn)
c.499T>A (p.Tyr167Asn)
16g.30986476T>CCA395640004HSD3B7c.376T>C (p.Tyr126His)
c.499T>C (p.Tyr167His)
16g.30986476T>GCA395640006HSD3B7c.376T>G (p.Tyr126Asp)
c.499T>G (p.Tyr167Asp)
16g.30986477A>CCA395640008HSD3B7c.377A>C (p.Tyr126Ser)
c.500A>C (p.Tyr167Ser)
16g.30986477A>GCA395640009HSD3B7c.377A>G (p.Tyr126Cys)
c.500A>G (p.Tyr167Cys)
16g.30986477A>TCA395640011HSD3B7c.377A>T (p.Tyr126Phe)
c.500A>T (p.Tyr167Phe)
16g.30986478C>ACA395640015HSD3B7c.378C>A (p.Tyr126Ter)
c.501C>A (p.Tyr167Ter)
16g.30986478C=CA2216821881HSD3B7c.378C= (p.Tyr126=)
c.501C= (p.Tyr167=)
16g.30986478C>GCA395640013HSD3B7c.378C>G (p.Tyr126Ter)
c.501C>G (p.Tyr167Ter)
16g.30986478C>TCA494920094HSD3B7c.378C>T (p.Tyr126=)
c.501C>T (p.Tyr167=)
 dbSNP gnomAD v4
16g.30986479A>CCA395640018HSD3B7c.379A>C (p.Thr127Pro)
c.502A>C (p.Thr168Pro)
16g.30986479A>GCA395640019HSD3B7c.379A>G (p.Thr127Ala)
c.502A>G (p.Thr168Ala)
16g.30986479A>TCA395640021HSD3B7c.379A>T (p.Thr127Ser)
c.502A>T (p.Thr168Ser)
16g.30986480C>ACA395640023HSD3B7c.380C>A (p.Thr127Asn)
c.503C>A (p.Thr168Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.30986480C=CA2216821887HSD3B7c.380C= (p.Thr127=)
c.503C= (p.Thr168=)
16g.30986480C>GCA395640024HSD3B7c.380C>G (p.Thr127Ser)
c.503C>G (p.Thr168Ser)
 gnomAD v4
16g.30986480C>TCA395640026HSD3B7c.380C>T (p.Thr127Ile)
c.503C>T (p.Thr168Ile)
16g.30986481C>ACA494920097HSD3B7c.381C>A (p.Thr127=)
c.504C>A (p.Thr168=)
16g.30986481C=CA2216821891HSD3B7c.381C= (p.Thr127=)
c.504C= (p.Thr168=)
16g.30986481C>GCA494920098HSD3B7c.381C>G (p.Thr127=)
c.504C>G (p.Thr168=)
 gnomAD v4
16g.30986481C>TCA280561909HSD3B7c.381C>T (p.Thr127=)
c.504C>T (p.Thr168=)
 dbSNP
16g.30986482A=CA2216821897HSD3B7c.382A= (p.Ser128=)
c.505A= (p.Ser169=)
16g.30986482A>CCA395640032HSD3B7c.382A>C (p.Ser128Arg)
c.505A>C (p.Ser169Arg)
16g.30986482A>GCA395640028HSD3B7c.382A>G (p.Ser128Gly)
c.505A>G (p.Ser169Gly)
 dbSNP
16g.30986482A>TCA395640030HSD3B7c.382A>T (p.Ser128Cys)
c.505A>T (p.Ser169Cys)
16g.30986483G>ACA8017981HSD3B7c.383G>A (p.Ser128Asn)
c.506G>A (p.Ser169Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986483G>CCA395640034HSD3B7c.383G>C (p.Ser128Thr)
c.506G>C (p.Ser169Thr)
16g.30986483G=CA2216821907HSD3B7c.383G= (p.Ser128=)
c.506G= (p.Ser169=)
16g.30986483G>TCA395640036HSD3B7c.383G>T (p.Ser128Ile)
c.506G>T (p.Ser169Ile)
16g.30986484C>ACA395640037HSD3B7c.384C>A (p.Ser128Arg)
c.507C>A (p.Ser169Arg)
16g.30986484C>GCA395640038HSD3B7c.384C>G (p.Ser128Arg)
c.507C>G (p.Ser169Arg)
16g.30986484C>TCA494920104HSD3B7c.384C>T (p.Ser128=)
c.507C>T (p.Ser169=)

Number of alleles fetched