Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30986050G>ACA494920611HSD3B7c.168G>A (p.Gly56=)
c.291G>A (p.Arg97=)
16g.30986050G>CCA395639329HSD3B7c.168G>C (p.Gly56=)
c.291G>C (p.Arg97Ser)
16g.30986050G>TCA395639330HSD3B7c.168G>T (p.Gly56=)
c.291G>T (p.Arg97Ser)
16g.30986051C>ACA395639331HSD3B7c.169C>A (p.Pro57Thr)
c.292C>A (p.Pro98Thr)
16g.30986051C=CA2216820850HSD3B7c.169C= (p.Pro57=)
c.292C= (p.Pro98=)
16g.30986051C>GCA395639332HSD3B7c.169C>G (p.Pro57Ala)
c.292C>G (p.Pro98Ala)
16g.30986051C>TCA395639333HSD3B7c.169C>T (p.Pro57Ser)
c.292C>T (p.Pro98Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.30986052C>ACA395639336HSD3B7c.170C>A (p.Pro57His)
c.293C>A (p.Pro98His)
16g.30986052C>GCA395639334HSD3B7c.170C>G (p.Pro57Arg)
c.293C>G (p.Pro98Arg)
16g.30986052C>TCA395639335HSD3B7c.170C>T (p.Pro57Leu)
c.293C>T (p.Pro98Leu)
 gnomAD v4
16g.30986053T>ACA494920615HSD3B7c.171T>A (p.Pro57=)
c.294T>A (p.Pro98=)
16g.30986053T>CCA494920616HSD3B7c.171T>C (p.Pro57=)
c.294T>C (p.Pro98=)
16g.30986053T>GCA494920617HSD3B7c.171T>G (p.Pro57=)
c.294T>G (p.Pro98=)
16g.30986055_30986056delCA2695223276HSD3B7c.173_174del (p.Val58GlufsTer14)
c.296_297del (p.Val99GlufsTer14)
16g.30986054G>ACA395639337HSD3B7c.172G>A (p.Val58Met)
c.295G>A (p.Val99Met)
 gnomAD v4
16g.30986054G>CCA395639338HSD3B7c.172G>C (p.Val58Leu)
c.295G>C (p.Val99Leu)
16g.30986054G>TCA395639339HSD3B7c.172G>T (p.Val58Leu)
c.295G>T (p.Val99Leu)
16g.30986055T>ACA395639340HSD3B7c.173T>A (p.Val58Glu)
c.296T>A (p.Val99Glu)
16g.30986055T>CCA395639341HSD3B7c.173T>C (p.Val58Ala)
c.296T>C (p.Val99Ala)
16g.30986055T>GCA395639342HSD3B7c.173T>G (p.Val58Gly)
c.296T>G (p.Val99Gly)
16g.30986056G>ACA494920621HSD3B7c.174G>A (p.Val58=)
c.297G>A (p.Val99=)
 gnomAD v4
16g.30986056G>CCA494920623HSD3B7c.174G>C (p.Val58=)
c.297G>C (p.Val99=)
16g.30986056G>TCA494920622HSD3B7c.174G>T (p.Val58=)
c.297G>T (p.Val99=)
16g.30986057A>CCA494920624HSD3B7c.175A>C (p.Arg59=)
c.298A>C (p.Arg100=)
16g.30986057A>GCA395639343HSD3B7c.175A>G (p.Arg59Gly)
c.298A>G (p.Arg100Gly)
16g.30986057A>TCA395639344HSD3B7c.175A>T (p.Arg59Trp)
c.298A>T (p.Arg100Trp)
16g.30986058G>ACA395639345HSD3B7c.176G>A (p.Arg59Lys)
c.299G>A (p.Arg100Lys)
 dbSNP gnomAD v4
16g.30986058G>CCA395639346HSD3B7c.176G>C (p.Arg59Thr)
c.299G>C (p.Arg100Thr)
16g.30986058G=CA2216820856HSD3B7c.176G= (p.Arg59=)
c.299G= (p.Arg100=)
16g.30986058G>TCA395639347HSD3B7c.176G>T (p.Arg59Met)
c.299G>T (p.Arg100Met)
16g.30986059G>ACA494920626HSD3B7c.177G>A (p.Arg59=)
c.300G>A (p.Arg100=)
 gnomAD v4
16g.30986059G>CCA395639349HSD3B7c.177G>C (p.Arg59Ser)
c.300G>C (p.Arg100Ser)
16g.30986059G>TCA395639348HSD3B7c.177G>T (p.Arg59Ser)
c.300G>T (p.Arg100Ser)
 gnomAD v4
16g.30986060G>ACA395639350HSD3B7c.178G>A (p.Val60Met)
c.301G>A (p.Val101Met)
16g.30986060G>CCA395639351HSD3B7c.178G>C (p.Val60Leu)
c.301G>C (p.Val101Leu)
 gnomAD v4
16g.30986060G>TCA395639352HSD3B7c.178G>T (p.Val60Leu)
c.301G>T (p.Val101Leu)
16g.30986061T>ACA395639353HSD3B7c.179T>A (p.Val60Glu)
c.302T>A (p.Val101Glu)
16g.30986061T>CCA395639354HSD3B7c.179T>C (p.Val60Ala)
c.302T>C (p.Val101Ala)
16g.30986061T>GCA395639355HSD3B7c.179T>G (p.Val60Gly)
c.302T>G (p.Val101Gly)
16g.30986062G>ACA494920630HSD3B7c.180G>A (p.Val60=)
c.303G>A (p.Val101=)
 dbSNP gnomAD v3 gnomAD v4
16g.30986062G>CCA494920631HSD3B7c.180G>C (p.Val60=)
c.303G>C (p.Val101=)
16g.30986062G=CA2216820860HSD3B7c.180G= (p.Val60=)
c.303G= (p.Val101=)
16g.30986062G>TCA494920632HSD3B7c.180G>T (p.Val60=)
c.303G>T (p.Val101=)
16g.30986063A>CCA395639356HSD3B7c.181A>C (p.Thr61Pro)
c.304A>C (p.Thr102Pro)
16g.30986063A>GCA395639357HSD3B7c.181A>G (p.Thr61Ala)
c.304A>G (p.Thr102Ala)
16g.30986063A>TCA395639358HSD3B7c.181A>T (p.Thr61Ser)
c.304A>T (p.Thr102Ser)
16g.30986064C>ACA395639359HSD3B7c.182C>A (p.Thr61Asn)
c.305C>A (p.Thr102Asn)
16g.30986064C>GCA395639360HSD3B7c.182C>G (p.Thr61Ser)
c.305C>G (p.Thr102Ser)
16g.30986064C>TCA395639361HSD3B7c.182C>T (p.Thr61Ile)
c.305C>T (p.Thr102Ile)
16g.30986064_30986066delinsCTGCA2216820866HSD3B7c.182_184delinsCTG (p.Thr61=)
c.305_307delinsCTG (p.Thr102=)
16g.30986065T>ACA494920636HSD3B7c.183T>A (p.Thr61=)
c.306T>A (p.Thr102=)
16g.30986065T>CCA494920634HSD3B7c.183T>C (p.Thr61=)
c.306T>C (p.Thr102=)
16g.30986065T>GCA494920635HSD3B7c.183T>G (p.Thr61=)
c.306T>G (p.Thr102=)
16g.30986065_30986066delCA719897121HSD3B7c.183_184del (p.Ala62HisfsTer10)
c.306_307del (p.Ala103HisfsTer10)
 dbSNP
16g.30986066G>ACA395639363HSD3B7c.184G>A (p.Ala62Thr)
c.307G>A (p.Ala103Thr)
16g.30986066G>CCA395639364HSD3B7c.184G>C (p.Ala62Pro)
c.307G>C (p.Ala103Pro)
16g.30986066G>TCA395639362HSD3B7c.184G>T (p.Ala62Ser)
c.307G>T (p.Ala103Ser)
16g.30986067C>ACA395639365HSD3B7c.185C>A (p.Ala62Asp)
c.308C>A (p.Ala103Asp)
16g.30986067C=CA2216820870HSD3B7c.185C= (p.Ala62=)
c.308C= (p.Ala103=)
16g.30986067C>GCA395639366HSD3B7c.185C>G (p.Ala62Gly)
c.308C>G (p.Ala103Gly)
16g.30986067C>TCA8017916HSD3B7c.185C>T (p.Ala62Val)
c.308C>T (p.Ala103Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986068C>ACA8017917HSD3B7c.186C>A (p.Ala62=)
c.309C>A (p.Ala103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986068C=CA2216820873HSD3B7c.186C= (p.Ala62=)
c.309C= (p.Ala103=)
16g.30986068C>GCA494920639HSD3B7c.186C>G (p.Ala62=)
c.309C>G (p.Ala103=)
 gnomAD v4
16g.30986068C>TCA494920640HSD3B7c.186C>T (p.Ala62=)
c.309C>T (p.Ala103=)
16g.30986069A>CCA395639369HSD3B7c.187A>C (p.Ile63Leu)
c.310A>C (p.Ile104Leu)
16g.30986069A>GCA395639368HSD3B7c.187A>G (p.Ile63Val)
c.310A>G (p.Ile104Val)
16g.30986069A>TCA395639367HSD3B7c.187A>T (p.Ile63Phe)
c.310A>T (p.Ile104Phe)
16g.30986070T>ACA395639370HSD3B7c.188T>A (p.Ile63Asn)
c.311T>A (p.Ile104Asn)
16g.30986070T>CCA395639371HSD3B7c.188T>C (p.Ile63Thr)
c.311T>C (p.Ile104Thr)
16g.30986070T>GCA395639372HSD3B7c.188T>G (p.Ile63Ser)
c.311T>G (p.Ile104Ser)
16g.30986071C>ACA494920642HSD3B7c.189C>A (p.Ile63=)
c.312C>A (p.Ile104=)
16g.30986071C>GCA395639373HSD3B7c.189C>G (p.Ile63Met)
c.312C>G (p.Ile104Met)
16g.30986071C>TCA494920644HSD3B7c.189C>T (p.Ile63=)
c.312C>T (p.Ile104=)
16g.30986072C>ACA395639374HSD3B7c.190C>A (p.Gln64Lys)
c.313C>A (p.Gln105Lys)
16g.30986072C=CA2216820877HSD3B7c.190C= (p.Gln64=)
c.313C= (p.Gln105=)
16g.30986072C>GCA8017918HSD3B7c.190C>G (p.Gln64Glu)
c.313C>G (p.Gln105Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986072C>TCA395639375HSD3B7c.190C>T (p.Gln64Ter)
c.313C>T (p.Gln105Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.30986073A>CCA395639378HSD3B7c.191A>C (p.Gln64Pro)
c.314A>C (p.Gln105Pro)
16g.30986073A>GCA395639377HSD3B7c.191A>G (p.Gln64Arg)
c.314A>G (p.Gln105Arg)
 gnomAD v4
16g.30986073A>TCA395639376HSD3B7c.191A>T (p.Gln64Leu)
c.314A>T (p.Gln105Leu)
16g.30986073_30986074delinsAGCA2216820883HSD3B7c.191_192delinsAG (p.Gln64=)
c.314_315delinsAG (p.Gln105=)
16g.30986074G>ACA494920646HSD3B7c.192G>A (p.Gln64=)
c.315G>A (p.Gln105=)
16g.30986074G>CCA395639380HSD3B7c.192G>C (p.Gln64His)
c.315G>C (p.Gln105His)
16g.30986074G>TCA395639379HSD3B7c.192G>T (p.Gln64His)
c.315G>T (p.Gln105His)
16g.30986078delCA658798591HSD3B7c.196del (p.Asp66ThrfsTer2)
c.319del (p.Asp107ThrfsTer2)
 ClinVar dbSNP
16g.30986075G>ACA8017919HSD3B7c.193G>A (p.Gly65Arg)
c.316G>A (p.Gly106Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986075G>CCA395639381HSD3B7c.193G>C (p.Gly65Arg)
c.316G>C (p.Gly106Arg)
 gnomAD v4
16g.30986075G=CA2216820895HSD3B7c.193G= (p.Gly65=)
c.316G= (p.Gly106=)
16g.30986075G>TCA395639382HSD3B7c.193G>T (p.Gly65Trp)
c.316G>T (p.Gly106Trp)
16g.30986076G>ACA8017920HSD3B7c.194G>A (p.Gly65Glu)
c.317G>A (p.Gly106Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986076G>CCA395639383HSD3B7c.194G>C (p.Gly65Ala)
c.317G>C (p.Gly106Ala)
16g.30986076G=CA2216820902HSD3B7c.194G= (p.Gly65=)
c.317G= (p.Gly106=)
16g.30986076G>TCA395639384HSD3B7c.194G>T (p.Gly65Val)
c.317G>T (p.Gly106Val)
16g.30986077G>ACA494920647HSD3B7c.195G>A (p.Gly65=)
c.318G>A (p.Gly106=)
16g.30986077G>CCA494920648HSD3B7c.195G>C (p.Gly65=)
c.318G>C (p.Gly106=)
16g.30986077G>TCA494920650HSD3B7c.195G>T (p.Gly65=)
c.318G>T (p.Gly106=)
16g.30986078G>ACA395639385HSD3B7c.196G>A (p.Asp66Asn)
c.319G>A (p.Asp107Asn)
 dbSNP
16g.30986078G>CCA395639386HSD3B7c.196G>C (p.Asp66His)
c.319G>C (p.Asp107His)
16g.30986078G=CA2216820906HSD3B7c.196G= (p.Asp66=)
c.319G= (p.Asp107=)
16g.30986078G>TCA395639387HSD3B7c.196G>T (p.Asp66Tyr)
c.319G>T (p.Asp107Tyr)
 gnomAD v4 COSMIC COSMIC
16g.30986079A>CCA395639388HSD3B7c.197A>C (p.Asp66Ala)
c.320A>C (p.Asp107Ala)
16g.30986079A>GCA395639389HSD3B7c.197A>G (p.Asp66Gly)
c.320A>G (p.Asp107Gly)
16g.30986079A>TCA395639390HSD3B7c.197A>T (p.Asp66Val)
c.320A>T (p.Asp107Val)
16g.30986080C>ACA395639392HSD3B7c.198C>A (p.Asp66Glu)
c.321C>A (p.Asp107Glu)
16g.30986080C=CA2216820910HSD3B7c.198C= (p.Asp66=)
c.321C= (p.Asp107=)
16g.30986080C>GCA395639391HSD3B7c.198C>G (p.Asp66Glu)
c.321C>G (p.Asp107Glu)
16g.30986080C>TCA8017921HSD3B7c.198C>T (p.Asp66=)
c.321C>T (p.Asp107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986081G>ACA8017922HSD3B7c.199G>A (p.Val67Met)
c.322G>A (p.Val108Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986081G>CCA395639393HSD3B7c.199G>C (p.Val67Leu)
c.322G>C (p.Val108Leu)
16g.30986081G=CA2216820914HSD3B7c.199G= (p.Val67=)
c.322G= (p.Val108=)
16g.30986081G>TCA395639394HSD3B7c.199G>T (p.Val67Leu)
c.322G>T (p.Val108Leu)
16g.30986082T>ACA395639395HSD3B7c.200T>A (p.Val67Glu)
c.323T>A (p.Val108Glu)
 dbSNP
16g.30986082T>CCA395639396HSD3B7c.200T>C (p.Val67Ala)
c.323T>C (p.Val108Ala)
16g.30986082T>GCA395639397HSD3B7c.200T>G (p.Val67Gly)
c.323T>G (p.Val108Gly)
16g.30986082T=CA2216820918HSD3B7c.200T= (p.Val67=)
c.323T= (p.Val108=)
16g.30986083G>ACA494920652HSD3B7c.201G>A (p.Val67=)
c.324G>A (p.Val108=)
16g.30986083G>CCA494920653HSD3B7c.201G>C (p.Val67=)
c.324G>C (p.Val108=)
16g.30986083G>TCA494920654HSD3B7c.201G>T (p.Val67=)
c.324G>T (p.Val108=)
16g.30986084A>CCA395639398HSD3B7c.202A>C (p.Thr68Pro)
c.325A>C (p.Thr109Pro)
16g.30986084A>GCA395639399HSD3B7c.202A>G (p.Thr68Ala)
c.325A>G (p.Thr109Ala)
16g.30986084A>TCA395639400HSD3B7c.202A>T (p.Thr68Ser)
c.325A>T (p.Thr109Ser)
16g.30986085C>ACA395639401HSD3B7c.203C>A (p.Thr68Asn)
c.326C>A (p.Thr109Asn)
16g.30986085C=CA2216820921HSD3B7c.203C= (p.Thr68=)
c.326C= (p.Thr109=)
16g.30986085C>GCA395639402HSD3B7c.203C>G (p.Thr68Ser)
c.326C>G (p.Thr109Ser)
 gnomAD v4
16g.30986085C>TCA8017923HSD3B7c.203C>T (p.Thr68Ile)
c.326C>T (p.Thr109Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986086C>ACA494920657HSD3B7c.204C>A (p.Thr68=)
c.327C>A (p.Thr109=)
16g.30986086C>GCA494920656HSD3B7c.204C>G (p.Thr68=)
c.327C>G (p.Thr109=)
16g.30986086C>TCA494920655HSD3B7c.204C>T (p.Thr68=)
c.327C>T (p.Thr109=)
 gnomAD v4
16g.30986087C>ACA395639404HSD3B7c.205C>A (p.Gln69Lys)
c.328C>A (p.Gln110Lys)
16g.30986087C=CA2216820923HSD3B7c.205C= (p.Gln69=)
c.328C= (p.Gln110=)
16g.30986087C>GCA395639405HSD3B7c.205C>G (p.Gln69Glu)
c.328C>G (p.Gln110Glu)
16g.30986087C>TCA395639403HSD3B7c.205C>T (p.Gln69Ter)
c.328C>T (p.Gln110Ter)
 ClinVar dbSNP gnomAD v4
16g.30986088A>CCA395639406HSD3B7c.206A>C (p.Gln69Pro)
c.329A>C (p.Gln110Pro)
16g.30986088A>GCA395639407HSD3B7c.206A>G (p.Gln69Arg)
c.329A>G (p.Gln110Arg)
16g.30986088A>TCA395639408HSD3B7c.206A>T (p.Gln69Leu)
c.329A>T (p.Gln110Leu)
16g.30986089G>ACA494920659HSD3B7c.207G>A (p.Gln69=)
c.330G>A (p.Gln110=)
 gnomAD v4
16g.30986089G>CCA395639409HSD3B7c.207G>C (p.Gln69His)
c.330G>C (p.Gln110His)
16g.30986089G>TCA395639410HSD3B7c.207G>T (p.Gln69His)
c.330G>T (p.Gln110His)
 COSMIC COSMIC
16g.30986090G>ACA8017924HSD3B7c.208G>A (p.Ala70Thr)
c.331G>A (p.Ala111Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986090G>CCA395639412HSD3B7c.208G>C (p.Ala70Pro)
c.331G>C (p.Ala111Pro)
16g.30986090G=CA2216820926HSD3B7c.208G= (p.Ala70=)
c.331G= (p.Ala111=)
16g.30986090G>TCA395639411HSD3B7c.208G>T (p.Ala70Ser)
c.331G>T (p.Ala111Ser)
 gnomAD v4
16g.30986091C>ACA395639413HSD3B7c.209C>A (p.Ala70Asp)
c.332C>A (p.Ala111Asp)
 dbSNP gnomAD v4
16g.30986091C=CA2216820930HSD3B7c.209C= (p.Ala70=)
c.332C= (p.Ala111=)
16g.30986091C>GCA395639414HSD3B7c.209C>G (p.Ala70Gly)
c.332C>G (p.Ala111Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.30986091C>TCA395639415HSD3B7c.209C>T (p.Ala70Val)
c.332C>T (p.Ala111Val)
16g.30986092C>ACA494920663HSD3B7c.210C>A (p.Ala70=)
c.333C>A (p.Ala111=)
16g.30986092C=CA2216820933HSD3B7c.210C= (p.Ala70=)
c.333C= (p.Ala111=)
16g.30986092C>GCA494920665HSD3B7c.210C>G (p.Ala70=)
c.333C>G (p.Ala111=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986092C>TCA494920664HSD3B7c.210C>T (p.Ala70=)
c.333C>T (p.Ala111=)
16g.30986093C>ACA395639416HSD3B7c.211C>A (p.His71Asn)
c.334C>A (p.His112Asn)
16g.30986093C>GCA395639417HSD3B7c.211C>G (p.His71Asp)
c.334C>G (p.His112Asp)
16g.30986093C>TCA395639418HSD3B7c.211C>T (p.His71Tyr)
c.334C>T (p.His112Tyr)
16g.30986094A=CA2216820935HSD3B7c.212A= (p.His71=)
c.335A= (p.His112=)
16g.30986094A>CCA395639419HSD3B7c.212A>C (p.His71Pro)
c.335A>C (p.His112Pro)
16g.30986094A>GCA8017925HSD3B7c.212A>G (p.His71Arg)
c.335A>G (p.His112Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986094A>TCA395639420HSD3B7c.212A>T (p.His71Leu)
c.335A>T (p.His112Leu)
16g.30986095T>ACA395639421HSD3B7c.213T>A (p.His71Gln)
c.336T>A (p.His112Gln)
 gnomAD v4
16g.30986095T>CCA494920666HSD3B7c.213T>C (p.His71=)
c.336T>C (p.His112=)
16g.30986095T>GCA395639422HSD3B7c.213T>G (p.His71Gln)
c.336T>G (p.His112Gln)
 gnomAD v4
16g.30986096G>ACA395639423HSD3B7c.214G>A (p.Glu72Lys)
c.337G>A (p.Glu113Lys)
 gnomAD v4
16g.30986096G>CCA395639424HSD3B7c.214G>C (p.Glu72Gln)
c.337G>C (p.Glu113Gln)
16g.30986096G=CA2216820939HSD3B7c.214G= (p.Glu72=)
c.337G= (p.Glu113=)
16g.30986096G>TCA8017926HSD3B7c.214G>T (p.Glu72Ter)
c.337G>T (p.Glu113Ter)
 dbSNP ExAC gnomAD v2
16g.30986097A=CA2216820945HSD3B7c.215A= (p.Glu72=)
c.338A= (p.Glu113=)
16g.30986097A>CCA395639425HSD3B7c.215A>C (p.Glu72Ala)
c.338A>C (p.Glu113Ala)
16g.30986097A>GCA8017927HSD3B7c.215A>G (p.Glu72Gly)
c.338A>G (p.Glu113Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986097A>TCA395639426HSD3B7c.215A>T (p.Glu72Val)
c.338A>T (p.Glu113Val)
16g.30986098G>ACA494920668HSD3B7c.216G>A (p.Glu72=)
c.339G>A (p.Glu113=)
16g.30986098G>CCA395639427HSD3B7c.216G>C (p.Glu72Asp)
c.339G>C (p.Glu113Asp)
16g.30986098G>TCA395639428HSD3B7c.216G>T (p.Glu72Asp)
c.339G>T (p.Glu113Asp)
16g.30986099G>ACA8017928HSD3B7c.217G>A (p.Val73Met)
c.340G>A (p.Val114Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986099G>CCA395639429HSD3B7c.217G>C (p.Val73Leu)
c.340G>C (p.Val114Leu)
16g.30986099G=CA2216820952HSD3B7c.217G= (p.Val73=)
c.340G= (p.Val114=)
16g.30986099G>TCA280561516HSD3B7c.217G>T (p.Val73Leu)
c.340G>T (p.Val114Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.30986100T>ACA395639431HSD3B7c.218T>A (p.Val73Glu)
c.341T>A (p.Val114Glu)
16g.30986100T>CCA395639432HSD3B7c.218T>C (p.Val73Ala)
c.341T>C (p.Val114Ala)
16g.30986100T>GCA395639430HSD3B7c.218T>G (p.Val73Gly)
c.341T>G (p.Val114Gly)
16g.30986101G>ACA494920670HSD3B7c.219G>A (p.Val73=)
c.342G>A (p.Val114=)
16g.30986101G>CCA494920672HSD3B7c.219G>C (p.Val73=)
c.342G>C (p.Val114=)
16g.30986101G>TCA494920674HSD3B7c.219G>T (p.Val73=)
c.342G>T (p.Val114=)
16g.30986102G>ACA395639433HSD3B7c.220G>A (p.Ala74Thr)
c.343G>A (p.Ala115Thr)
16g.30986102G>CCA395639435HSD3B7c.220G>C (p.Ala74Pro)
c.343G>C (p.Ala115Pro)
16g.30986102G>TCA395639434HSD3B7c.220G>T (p.Ala74Ser)
c.343G>T (p.Ala115Ser)
16g.30986103C>ACA395639436HSD3B7c.221C>A (p.Ala74Glu)
c.344C>A (p.Ala115Glu)
16g.30986103C=CA2216820958HSD3B7c.221C= (p.Ala74=)
c.344C= (p.Ala115=)
16g.30986103C>GCA395639437HSD3B7c.221C>G (p.Ala74Gly)
c.344C>G (p.Ala115Gly)
16g.30986103C>TCA395639438HSD3B7c.221C>T (p.Ala74Val)
c.344C>T (p.Ala115Val)
 dbSNP gnomAD v2 gnomAD v4
16g.30986104A=CA2216820963HSD3B7c.222A= (p.Ala74=)
c.345A= (p.Ala115=)
16g.30986104A>CCA494920679HSD3B7c.222A>C (p.Ala74=)
c.345A>C (p.Ala115=)
16g.30986104A>GCA494920680HSD3B7c.222A>G (p.Ala74=)
c.345A>G (p.Ala115=)
 dbSNP gnomAD v4
16g.30986104A>TCA494920681HSD3B7c.222A>T (p.Ala74=)
c.345A>T (p.Ala115=)
16g.30986105G>ACA395639439HSD3B7c.223G>A (p.Ala75Thr)
c.346G>A (p.Ala116Thr)
16g.30986105G>CCA395639440HSD3B7c.223G>C (p.Ala75Pro)
c.346G>C (p.Ala116Pro)
16g.30986105G>TCA395639441HSD3B7c.223G>T (p.Ala75Ser)
c.346G>T (p.Ala116Ser)
16g.30986106C>ACA8017929HSD3B7c.224C>A (p.Ala75Glu)
c.347C>A (p.Ala116Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986106C=CA2216820970HSD3B7c.224C= (p.Ala75=)
c.347C= (p.Ala116=)
16g.30986106C>GCA395639443HSD3B7c.224C>G (p.Ala75Gly)
c.347C>G (p.Ala116Gly)
16g.30986106C>TCA395639442HSD3B7c.224C>T (p.Ala75Val)
c.347C>T (p.Ala116Val)
 dbSNP gnomAD v2 gnomAD v4
16g.30986107A>CCA494920682HSD3B7c.225A>C (p.Ala75=)
c.348A>C (p.Ala116=)
16g.30986107A>GCA494920683HSD3B7c.225A>G (p.Ala75=)
c.348A>G (p.Ala116=)
16g.30986107A>TCA494920684HSD3B7c.225A>T (p.Ala75=)
c.348A>T (p.Ala116=)
16g.30986108G>ACA8017930HSD3B7c.226G>A (p.Ala76Thr)
c.349G>A (p.Ala117Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986108G>CCA395639444HSD3B7c.226G>C (p.Ala76Pro)
c.349G>C (p.Ala117Pro)
 ClinVar dbSNP
16g.30986108G=CA2216820978HSD3B7c.226G= (p.Ala76=)
c.349G= (p.Ala117=)
16g.30986108G>TCA8017931HSD3B7c.226G>T (p.Ala76Ser)
c.349G>T (p.Ala117Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.30986109C>ACA395639445HSD3B7c.227C>A (p.Ala76Asp)
c.350C>A (p.Ala117Asp)
16g.30986109C>GCA395639446HSD3B7c.227C>G (p.Ala76Gly)
c.350C>G (p.Ala117Gly)
 gnomAD v4
16g.30986109C>TCA395639447HSD3B7c.227C>T (p.Ala76Val)
c.350C>T (p.Ala117Val)
 gnomAD v4
16g.30986110T>ACA494920686HSD3B7c.228T>A (p.Ala76=)
c.351T>A (p.Ala117=)
16g.30986110T>CCA494920687HSD3B7c.228T>C (p.Ala76=)
c.351T>C (p.Ala117=)
16g.30986110T>GCA494920688HSD3B7c.228T>G (p.Ala76=)
c.351T>G (p.Ala117=)
16g.30986111G>ACA395639448HSD3B7c.229G>A (p.Val77Met)
c.352G>A (p.Val118Met)
16g.30986111G>CCA395639450HSD3B7c.229G>C (p.Val77Leu)
c.352G>C (p.Val118Leu)
16g.30986111G>TCA395639449HSD3B7c.229G>T (p.Val77Leu)
c.352G>T (p.Val118Leu)
16g.30986112T>ACA395639451HSD3B7c.230T>A (p.Val77Glu)
c.353T>A (p.Val118Glu)
16g.30986112T>CCA395639452HSD3B7c.230T>C (p.Val77Ala)
c.353T>C (p.Val118Ala)
16g.30986112T>GCA395639453HSD3B7c.230T>G (p.Val77Gly)
c.353T>G (p.Val118Gly)
16g.30986113G>ACA494920693HSD3B7c.231G>A (p.Val77=)
c.354G>A (p.Val118=)
16g.30986113G>CCA494920692HSD3B7c.231G>C (p.Val77=)
c.354G>C (p.Val118=)
16g.30986113G=CA2216820988HSD3B7c.231G= (p.Val77=)
c.354G= (p.Val118=)
16g.30986113G>TCA8017932HSD3B7c.231G>T (p.Val77=)
c.354G>T (p.Val118=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986114G>ACA395639454HSD3B7c.232G>A (p.Ala78Thr)
c.355G>A (p.Ala119Thr)
16g.30986114G>CCA395639455HSD3B7c.232G>C (p.Ala78Pro)
c.355G>C (p.Ala119Pro)
16g.30986114G>TCA395639456HSD3B7c.232G>T (p.Ala78Ser)
c.355G>T (p.Ala119Ser)
16g.30986115C>ACA395639457HSD3B7c.233C>A (p.Ala78Asp)
c.356C>A (p.Ala119Asp)
16g.30986115C>GCA395639458HSD3B7c.233C>G (p.Ala78Gly)
c.356C>G (p.Ala119Gly)
16g.30986115C>TCA395639459HSD3B7c.233C>T (p.Ala78Val)
c.356C>T (p.Ala119Val)
16g.30986116C>ACA494920698HSD3B7c.234C>A (p.Ala78=)
c.357C>A (p.Ala119=)
16g.30986116C=CA2216820993HSD3B7c.234C= (p.Ala78=)
c.357C= (p.Ala119=)
16g.30986116C>GCA494920697HSD3B7c.234C>G (p.Ala78=)
c.357C>G (p.Ala119=)
 gnomAD v4
16g.30986116C>TCA8017933HSD3B7c.234C>T (p.Ala78=)
c.357C>T (p.Ala119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986117G>ACA8017934HSD3B7c.235G>A (p.Gly79Arg)
c.358G>A (p.Gly120Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.30986117G>CCA395639460HSD3B7c.235G>C (p.Gly79Arg)
c.358G>C (p.Gly120Arg)
16g.30986117G=CA2216821000HSD3B7c.235G= (p.Gly79=)
c.358G= (p.Gly120=)
16g.30986117G>TCA395639461HSD3B7c.235G>T (p.Gly79Ter)
c.358G>T (p.Gly120Ter)
16g.30986118G>ACA395639462HSD3B7c.236G>A (p.Gly79Glu)
c.359G>A (p.Gly120Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.30986118G>CCA395639463HSD3B7c.236G>C (p.Gly79Ala)
c.359G>C (p.Gly120Ala)
16g.30986118G=CA2216821009HSD3B7c.236G= (p.Gly79=)
c.359G= (p.Gly120=)
16g.30986118G>TCA395639464HSD3B7c.236G>T (p.Gly79Val)
c.359G>T (p.Gly120Val)
16g.30986119A=CA2216821011HSD3B7c.237A= (p.Gly79=)
c.360A= (p.Gly120=)
16g.30986119A>CCA494920703HSD3B7c.237A>C (p.Gly79=)
c.360A>C (p.Gly120=)
16g.30986119A>GCA8017935HSD3B7c.237A>G (p.Gly79=)
c.360A>G (p.Gly120=)
 dbSNP ExAC
16g.30986119A>TCA494920702HSD3B7c.237A>T (p.Gly79=)
c.360A>T (p.Gly120=)
16g.30986120G>ACA395639465HSD3B7c.238G>A (p.Ala80Thr)
c.361G>A (p.Ala121Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.30986120G>CCA395639466HSD3B7c.238G>C (p.Ala80Pro)
c.361G>C (p.Ala121Pro)
16g.30986120G=CA2216821015HSD3B7c.238G= (p.Ala80=)
c.361G= (p.Ala121=)
16g.30986120G>TCA395639467HSD3B7c.238G>T (p.Ala80Ser)
c.361G>T (p.Ala121Ser)
16g.30986121C>ACA395639468HSD3B7c.239C>A (p.Ala80Asp)
c.362C>A (p.Ala121Asp)
16g.30986121C>GCA395639470HSD3B7c.239C>G (p.Ala80Gly)
c.362C>G (p.Ala121Gly)
16g.30986121C>TCA395639469HSD3B7c.239C>T (p.Ala80Val)
c.362C>T (p.Ala121Val)
 gnomAD v4
16g.30986122C>ACA494920704HSD3B7c.240C>A (p.Ala80=)
c.363C>A (p.Ala121=)
16g.30986122C=CA2216821018HSD3B7c.240C= (p.Ala80=)
c.363C= (p.Ala121=)
16g.30986122C>GCA494920706HSD3B7c.240C>G (p.Ala80=)
c.363C>G (p.Ala121=)
16g.30986122C>TCA8017936HSD3B7c.240C>T (p.Ala80=)
c.363C>T (p.Ala121=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986123C>ACA395639471HSD3B7c.241C>A (p.His81Asn)
c.364C>A (p.His122Asn)
16g.30986123C>GCA395639472HSD3B7c.241C>G (p.His81Asp)
c.364C>G (p.His122Asp)
16g.30986123C>TCA395639473HSD3B7c.241C>T (p.His81Tyr)
c.364C>T (p.His122Tyr)
16g.30986124A=CA2216821026HSD3B7c.242A= (p.His81=)
c.365A= (p.His122=)
16g.30986124A>CCA395639474HSD3B7c.242A>C (p.His81Pro)
c.365A>C (p.His122Pro)
 dbSNP
16g.30986124A>GCA395639476HSD3B7c.242A>G (p.His81Arg)
c.365A>G (p.His122Arg)
 dbSNP
16g.30986124A>TCA395639475HSD3B7c.242A>T (p.His81Leu)
c.365A>T (p.His122Leu)
16g.30986125T>ACA395639477HSD3B7c.243T>A (p.His81Gln)
c.366T>A (p.His122Gln)
 dbSNP gnomAD v2
16g.30986125T>CCA494920710HSD3B7c.243T>C (p.His81=)
c.366T>C (p.His122=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986125T>GCA395639478HSD3B7c.243T>G (p.His81Gln)
c.366T>G (p.His122Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.30986125T=CA2216821033HSD3B7c.243T= (p.His81=)
c.366T= (p.His122=)
16g.30986126G>ACA395639479HSD3B7c.244G>A (p.Val82Met)
c.367G>A (p.Val123Met)
16g.30986126G>CCA395639480HSD3B7c.244G>C (p.Val82Leu)
c.367G>C (p.Val123Leu)
16g.30986126G>TCA395639481HSD3B7c.244G>T (p.Val82Leu)
c.367G>T (p.Val123Leu)
16g.30986127T>ACA395639482HSD3B7c.245T>A (p.Val82Glu)
c.368T>A (p.Val123Glu)
16g.30986127T>CCA395639483HSD3B7c.245T>C (p.Val82Ala)
c.368T>C (p.Val123Ala)
16g.30986127T>GCA395639484HSD3B7c.245T>G (p.Val82Gly)
c.368T>G (p.Val123Gly)
16g.30986128G>ACA494920712HSD3B7c.246G>A (p.Val82=)
c.369G>A (p.Val123=)
16g.30986128G>CCA494920713HSD3B7c.246G>C (p.Val82=)
c.369G>C (p.Val123=)
16g.30986128G>TCA494920714HSD3B7c.246G>T (p.Val82=)
c.369G>T (p.Val123=)
 gnomAD v4
16g.30986129G>ACA395639485HSD3B7c.247G>A (p.Val83Ile)
c.370G>A (p.Val124Ile)
16g.30986129G>CCA395639486HSD3B7c.247G>C (p.Val83Leu)
c.370G>C (p.Val124Leu)
16g.30986129G>TCA395639487HSD3B7c.247G>T (p.Val83Phe)
c.370G>T (p.Val124Phe)
16g.30986130T>ACA395639488HSD3B7c.248T>A (p.Val83Asp)
c.371T>A (p.Val124Asp)
 gnomAD v4
16g.30986130T>CCA395639490HSD3B7c.248T>C (p.Val83Ala)
c.371T>C (p.Val124Ala)
16g.30986130T>GCA395639489HSD3B7c.248T>G (p.Val83Gly)
c.371T>G (p.Val124Gly)
16g.30986131C>ACA494920718HSD3B7c.249C>A (p.Val83=)
c.372C>A (p.Val124=)
 gnomAD v4
16g.30986131C>GCA494920719HSD3B7c.249C>G (p.Val83=)
c.372C>G (p.Val124=)
16g.30986131C>TCA494920720HSD3B7c.249C>T (p.Val83=)
c.372C>T (p.Val124=)
 gnomAD v4
16g.30986132A>CCA395639491HSD3B7c.250A>C (p.Ile84Leu)
c.373A>C (p.Ile125Leu)
16g.30986132A>GCA395639493HSD3B7c.250A>G (p.Ile84Val)
c.373A>G (p.Ile125Val)
16g.30986132A>TCA395639492HSD3B7c.250A>T (p.Ile84Phe)
c.373A>T (p.Ile125Phe)
16g.30986133T>ACA395639494HSD3B7c.251T>A (p.Ile84Asn)
c.374T>A (p.Ile125Asn)
16g.30986133T>CCA395639495HSD3B7c.251T>C (p.Ile84Thr)
c.374T>C (p.Ile125Thr)
16g.30986133T>GCA395639496HSD3B7c.251T>G (p.Ile84Ser)
c.374T>G (p.Ile125Ser)
16g.30986134C>ACA494920723HSD3B7c.252C>A (p.Ile84=)
c.375C>A (p.Ile125=)
16g.30986134C=CA2216821040HSD3B7c.252C= (p.Ile84=)
c.375C= (p.Ile125=)
16g.30986134C>GCA395639497HSD3B7c.252C>G (p.Ile84Met)
c.375C>G (p.Ile125Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986134C>TCA494920722HSD3B7c.252C>T (p.Ile84=)
c.375C>T (p.Ile125=)
16g.30986135C>ACA395639498HSD3B7c.253C>A (p.His85Asn)
c.376C>A (p.His126Asn)
16g.30986135C=CA2216821046HSD3B7c.253C= (p.His85=)
c.376C= (p.His126=)
16g.30986135C>GCA395639499HSD3B7c.253C>G (p.His85Asp)
c.376C>G (p.His126Asp)
16g.30986135C>TCA395639500HSD3B7c.253C>T (p.His85Tyr)
c.376C>T (p.His126Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.30986136A>CCA395639501HSD3B7c.254A>C (p.His85Pro)
c.377A>C (p.His126Pro)
16g.30986136A>GCA395639502HSD3B7c.254A>G (p.His85Arg)
c.377A>G (p.His126Arg)
16g.30986136A>TCA395639503HSD3B7c.254A>T (p.His85Leu)
c.377A>T (p.His126Leu)
16g.30986137C>ACA395639505HSD3B7c.255C>A (p.His85Gln)
c.378C>A (p.His126Gln)
16g.30986137C=CA2216821050HSD3B7c.255C= (p.His85=)
c.378C= (p.His126=)
16g.30986137C>GCA395639504HSD3B7c.255C>G (p.His85Gln)
c.378C>G (p.His126Gln)
16g.30986137C>TCA8017937HSD3B7c.255C>T (p.His85=)
c.378C>T (p.His126=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986138A=CA2216821053HSD3B7c.256A= (p.Thr86=)
c.379A= (p.Thr127=)
16g.30986138A>CCA395639506HSD3B7c.256A>C (p.Thr86Pro)
c.379A>C (p.Thr127Pro)
16g.30986138A>GCA280561568HSD3B7c.256A>G (p.Thr86Ala)
c.379A>G (p.Thr127Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986138A>TCA395639507HSD3B7c.256A>T (p.Thr86Ser)
c.379A>T (p.Thr127Ser)
16g.30986139C>ACA395639508HSD3B7c.257C>A (p.Thr86Lys)
c.380C>A (p.Thr127Lys)
16g.30986139C=CA2216821058HSD3B7c.257C= (p.Thr86=)
c.380C= (p.Thr127=)
16g.30986139C>GCA395639509HSD3B7c.257C>G (p.Thr86Arg)
c.380C>G (p.Thr127Arg)
16g.30986139C>TCA8017938HSD3B7c.257C>T (p.Thr86Met)
c.380C>T (p.Thr127Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986140G>ACA8017940HSD3B7c.258G>A (p.Thr86=)
c.381G>A (p.Thr127=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986140G>CCA494920726HSD3B7c.258G>C (p.Thr86=)
c.381G>C (p.Thr127=)
16g.30986140G=CA2216821065HSD3B7c.258G= (p.Thr86=)
c.381G= (p.Thr127=)
16g.30986140G>TCA8017939HSD3B7c.258G>T (p.Thr86=)
c.381G>T (p.Thr127=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986141G>ACA395639510HSD3B7c.259G>A (p.Ala87Thr)
c.382G>A (p.Ala128Thr)
16g.30986141G>CCA395639511HSD3B7c.259G>C (p.Ala87Pro)
c.382G>C (p.Ala128Pro)
16g.30986141G>TCA395639512HSD3B7c.259G>T (p.Ala87Ser)
c.382G>T (p.Ala128Ser)
 gnomAD v4
16g.30986142C>ACA395639515HSD3B7c.260C>A (p.Ala87Asp)
c.383C>A (p.Ala128Asp)
16g.30986142C>GCA395639514HSD3B7c.260C>G (p.Ala87Gly)
c.383C>G (p.Ala128Gly)
16g.30986142C>TCA395639513HSD3B7c.260C>T (p.Ala87Val)
c.383C>T (p.Ala128Val)
 gnomAD v4
16g.30986143T>ACA494920730HSD3B7c.261T>A (p.Ala87=)
c.384T>A (p.Ala128=)
16g.30986143T>CCA8017941HSD3B7c.261T>C (p.Ala87=)
c.384T>C (p.Ala128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986143T>GCA494920731HSD3B7c.261T>G (p.Ala87=)
c.384T>G (p.Ala128=)
16g.30986143T=CA2216821072HSD3B7c.261T= (p.Ala87=)
c.384T= (p.Ala128=)
16g.30986144G>ACA8017942HSD3B7c.262G>A (p.Gly88Arg)
c.385G>A (p.Gly129Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986144G>CCA395639516HSD3B7c.262G>C (p.Gly88Arg)
c.385G>C (p.Gly129Arg)
 dbSNP
16g.30986144G=CA2216821079HSD3B7c.262G= (p.Gly88=)
c.385G= (p.Gly129=)
16g.30986144G>TCA395639517HSD3B7c.262G>T (p.Gly88Trp)
c.385G>T (p.Gly129Trp)
16g.30986145G>ACA395639518HSD3B7c.263G>A (p.Gly88Glu)
c.386G>A (p.Gly129Glu)
16g.30986145G>CCA395639519HSD3B7c.263G>C (p.Gly88Ala)
c.386G>C (p.Gly129Ala)
 ClinVar dbSNP
16g.30986145G=CA2216821090HSD3B7c.263G= (p.Gly88=)
c.386G= (p.Gly129=)
16g.30986145G>TCA395639520HSD3B7c.263G>T (p.Gly88Val)
c.386G>T (p.Gly129Val)
16g.30986146G>ACA494920735HSD3B7c.264G>A (p.Gly88=)
c.387G>A (p.Gly129=)
 dbSNP gnomAD v3 gnomAD v4
16g.30986146G>CCA494920736HSD3B7c.264G>C (p.Gly88=)
c.387G>C (p.Gly129=)
16g.30986146G=CA2216821097HSD3B7c.264G= (p.Gly88=)
c.387G= (p.Gly129=)
16g.30986146G>TCA494920738HSD3B7c.264G>T (p.Gly88=)
c.387G>T (p.Gly129=)
16g.30986147C>ACA395639521HSD3B7c.265C>A (p.Leu89Met)
c.388C>A (p.Leu130Met)
16g.30986147C>GCA395639522HSD3B7c.265C>G (p.Leu89Val)
c.388C>G (p.Leu130Val)
16g.30986147C>TCA494920740HSD3B7c.265C>T (p.Leu89=)
c.388C>T (p.Leu130=)
16g.30986148T>ACA395639523HSD3B7c.266T>A (p.Leu89Gln)
c.389T>A (p.Leu130Gln)
16g.30986148T>CCA395639524HSD3B7c.266T>C (p.Leu89Pro)
c.389T>C (p.Leu130Pro)
16g.30986148T>GCA395639525HSD3B7c.266T>G (p.Leu89Arg)
c.389T>G (p.Leu130Arg)
16g.30986148_30986162delinsTGGTAGACGTGTTTGCA2216821102HSD3B7c.266_280delinsTGGTAGACGTGTTTG (p.Leu89=)
c.389_403delinsTGGTAGACGTGTTTG (p.Leu130=)
16g.30986149G>ACA494920741HSD3B7c.267G>A (p.Leu89=)
c.390G>A (p.Leu130=)
16g.30986149G>CCA494920742HSD3B7c.267G>C (p.Leu89=)
c.390G>C (p.Leu130=)
16g.30986149G>TCA494920744HSD3B7c.267G>T (p.Leu89=)
c.390G>T (p.Leu130=)
16g.30986150_30986153delCA2632803098HSD3B7c.268_271del (p.Val90ThrfsTer22)
c.391_394del (p.Val131ThrfsTer22)
 gnomAD v4
16g.30986150_30986163delCA913190929HSD3B7c.268_281del (p.Val90GlnfsTer9)
c.391_404del (p.Val131GlnfsTer9)
 ClinVar dbSNP
16g.30986150G>ACA395639528HSD3B7c.268G>A (p.Val90Ile)
c.391G>A (p.Val131Ile)
 dbSNP gnomAD v2
16g.30986150G>CCA395639526HSD3B7c.268G>C (p.Val90Leu)
c.391G>C (p.Val131Leu)
16g.30986150G=CA2216821111HSD3B7c.268G= (p.Val90=)
c.391G= (p.Val131=)
16g.30986150G>TCA395639527HSD3B7c.268G>T (p.Val90Leu)
c.391G>T (p.Val131Leu)

Number of alleles fetched