Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
16g.30986151T>ACA395639529HSD3B7c.269T>A (p.Val90Glu)
c.392T>A (p.Val131Glu)
16g.30986151T>CCA395639530HSD3B7c.269T>C (p.Val90Ala)
c.392T>C (p.Val131Ala)
16g.30986151T>GCA395639531HSD3B7c.269T>G (p.Val90Gly)
c.392T>G (p.Val131Gly)
16g.30986152A>CCA494920745HSD3B7c.270A>C (p.Val90=)
c.393A>C (p.Val131=)
16g.30986152A>GCA494920746HSD3B7c.270A>G (p.Val90=)
c.393A>G (p.Val131=)
16g.30986152A>TCA494920747HSD3B7c.270A>T (p.Val90=)
c.393A>T (p.Val131=)
16g.30986153G>ACA395639532HSD3B7c.271G>A (p.Asp91Asn)
c.394G>A (p.Asp132Asn)
 dbSNP gnomAD v4
16g.30986153G>CCA395639533HSD3B7c.271G>C (p.Asp91His)
c.394G>C (p.Asp132His)
 dbSNP gnomAD v2 gnomAD v4
16g.30986153G=CA2216821114HSD3B7c.271G= (p.Asp91=)
c.394G= (p.Asp132=)
16g.30986153G>TCA395639534HSD3B7c.271G>T (p.Asp91Tyr)
c.394G>T (p.Asp132Tyr)
16g.30986154A>CCA395639535HSD3B7c.272A>C (p.Asp91Ala)
c.395A>C (p.Asp132Ala)
16g.30986154A>GCA395639536HSD3B7c.272A>G (p.Asp91Gly)
c.395A>G (p.Asp132Gly)
16g.30986154A>TCA395639537HSD3B7c.272A>T (p.Asp91Val)
c.395A>T (p.Asp132Val)
16g.30986155C>ACA395639538HSD3B7c.273C>A (p.Asp91Glu)
c.396C>A (p.Asp132Glu)
16g.30986155C=CA2216821122HSD3B7c.273C= (p.Asp91=)
c.396C= (p.Asp132=)
16g.30986155C>GCA395639539HSD3B7c.273C>G (p.Asp91Glu)
c.396C>G (p.Asp132Glu)
16g.30986155C>TCA8017943HSD3B7c.273C>T (p.Asp91=)
c.396C>T (p.Asp132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986156G>ACA395639541HSD3B7c.274G>A (p.Val92Met)
c.397G>A (p.Val133Met)
 dbSNP gnomAD v4
16g.30986156G>CCA395639542HSD3B7c.274G>C (p.Val92Leu)
c.397G>C (p.Val133Leu)
16g.30986156G=CA2216821133HSD3B7c.274G= (p.Val92=)
c.397G= (p.Val133=)
16g.30986156G>TCA395639540HSD3B7c.274G>T (p.Val92Leu)
c.397G>T (p.Val133Leu)
16g.30986157T>ACA395639544HSD3B7c.275T>A (p.Val92Glu)
c.398T>A (p.Val133Glu)
16g.30986157T>CCA395639543HSD3B7c.275T>C (p.Val92Ala)
c.398T>C (p.Val133Ala)
16g.30986157T>GCA395639545HSD3B7c.275T>G (p.Val92Gly)
c.398T>G (p.Val133Gly)
16g.30986158G>ACA494920754HSD3B7c.276G>A (p.Val92=)
c.399G>A (p.Val133=)
16g.30986158G>CCA494920755HSD3B7c.276G>C (p.Val92=)
c.399G>C (p.Val133=)
 gnomAD v4
16g.30986158G>TCA494920756HSD3B7c.276G>T (p.Val92=)
c.399G>T (p.Val133=)
16g.30986159T>ACA395639546HSD3B7c.277T>A (p.Phe93Ile)
c.400T>A (p.Phe134Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986159T>CCA395639547HSD3B7c.277T>C (p.Phe93Leu)
c.400T>C (p.Phe134Leu)
16g.30986159T>GCA395639548HSD3B7c.277T>G (p.Phe93Val)
c.400T>G (p.Phe134Val)
16g.30986159T=CA2216821138HSD3B7c.277T= (p.Phe93=)
c.400T= (p.Phe134=)
16g.30986160T>ACA395639549HSD3B7c.278T>A (p.Phe93Tyr)
c.401T>A (p.Phe134Tyr)
16g.30986160T>CCA395639550HSD3B7c.278T>C (p.Phe93Ser)
c.401T>C (p.Phe134Ser)
16g.30986160T>GCA395639551HSD3B7c.278T>G (p.Phe93Cys)
c.401T>G (p.Phe134Cys)
 COSMIC COSMIC
16g.30986161T>ACA395639552HSD3B7c.279T>A (p.Phe93Leu)
c.402T>A (p.Phe134Leu)
16g.30986161T>CCA494920761HSD3B7c.279T>C (p.Phe93=)
c.402T>C (p.Phe134=)
 gnomAD v4
16g.30986161T>GCA395639553HSD3B7c.279T>G (p.Phe93Leu)
c.402T>G (p.Phe134Leu)
16g.30986162G>ACA395639554HSD3B7c.280G>A (p.Gly94Ser)
c.403G>A (p.Gly135Ser)
16g.30986162G>CCA395639555HSD3B7c.280G>C (p.Gly94Arg)
c.403G>C (p.Gly135Arg)
 gnomAD v4
16g.30986162G>TCA395639556HSD3B7c.280G>T (p.Gly94Cys)
c.403G>T (p.Gly135Cys)
16g.30986163G>ACA395639557HSD3B7c.281G>A (p.Gly94Asp)
c.404G>A (p.Gly135Asp)
16g.30986163G>CCA395639558HSD3B7c.281G>C (p.Gly94Ala)
c.404G>C (p.Gly135Ala)
16g.30986163G>TCA395639559HSD3B7c.281G>T (p.Gly94Val)
c.404G>T (p.Gly135Val)
 gnomAD v4
16g.30986164C>ACA494920763HSD3B7c.282C>A (p.Gly94=)
c.405C>A (p.Gly135=)
16g.30986164C=CA2216821143HSD3B7c.282C= (p.Gly94=)
c.405C= (p.Gly135=)
16g.30986164C>GCA494920764HSD3B7c.282C>G (p.Gly94=)
c.405C>G (p.Gly135=)
16g.30986164C>TCA494920765HSD3B7c.282C>T (p.Gly94=)
c.405C>T (p.Gly135=)
 dbSNP
16g.30986165A>CCA494920767HSD3B7c.283A>C (p.Arg95=)
c.406A>C (p.Arg136=)
16g.30986165A>GCA395639560HSD3B7c.283A>G (p.Arg95Gly)
c.406A>G (p.Arg136Gly)
16g.30986165A>TCA395639561HSD3B7c.283A>T (p.Arg95Trp)
c.406A>T (p.Arg136Trp)
16g.30986166G>ACA8017944HSD3B7c.284G>A (p.Arg95Lys)
c.407G>A (p.Arg136Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986166G>CCA395639563HSD3B7c.284G>C (p.Arg95Thr)
c.407G>C (p.Arg136Thr)
16g.30986166G=CA2216821147HSD3B7c.284G= (p.Arg95=)
c.407G= (p.Arg136=)
16g.30986166G>TCA395639564HSD3B7c.284G>T (p.Arg95Met)
c.407G>T (p.Arg136Met)
16g.30986167G>ACA494920770HSD3B7c.285G>A (p.Arg95=)
c.408G>A (p.Arg136=)
16g.30986167G>CCA395639567HSD3B7c.285G>C (p.Arg95Ser)
c.408G>C (p.Arg136Ser)
16g.30986167G>TCA395639569HSD3B7c.285G>T (p.Arg95Ser)
c.408G>T (p.Arg136Ser)
16g.30986168G>ACA395639570HSD3B7c.286G>A (p.Ala96Thr)
c.409G>A (p.Ala137Thr)
16g.30986168G>CCA395639572HSD3B7c.286G>C (p.Ala96Pro)
c.409G>C (p.Ala137Pro)
16g.30986168G>TCA395639574HSD3B7c.286G>T (p.Ala96Ser)
c.409G>T (p.Ala137Ser)
16g.30986169C>ACA395639575HSD3B7c.287C>A (p.Ala96Asp)
c.410C>A (p.Ala137Asp)
16g.30986169C>GCA395639576HSD3B7c.287C>G (p.Ala96Gly)
c.410C>G (p.Ala137Gly)
16g.30986169C>TCA395639577HSD3B7c.287C>T (p.Ala96Val)
c.410C>T (p.Ala137Val)
 gnomAD v4
16g.30986170C>ACA494920773HSD3B7c.288C>A (p.Ala96=)
c.411C>A (p.Ala137=)
16g.30986170C>GCA494920771HSD3B7c.288C>G (p.Ala96=)
c.411C>G (p.Ala137=)
16g.30986170C>TCA494920772HSD3B7c.288C>T (p.Ala96=)
c.411C>T (p.Ala137=)
16g.30986171A>CCA395639583HSD3B7c.289A>C (p.Ser97Arg)
c.412A>C (p.Ser138Arg)
16g.30986171A>GCA395639581HSD3B7c.289A>G (p.Ser97Gly)
c.412A>G (p.Ser138Gly)
 gnomAD v4
16g.30986171A>TCA395639579HSD3B7c.289A>T (p.Ser97Cys)
c.412A>T (p.Ser138Cys)
16g.30986172G>ACA395639584HSD3B7c.290G>A (p.Ser97Asn)
c.413G>A (p.Ser138Asn)
16g.30986172G>CCA395639587HSD3B7c.290G>C (p.Ser97Thr)
c.413G>C (p.Ser138Thr)
16g.30986172G>TCA395639589HSD3B7c.290G>T (p.Ser97Ile)
c.413G>T (p.Ser138Ile)
16g.30986173T>ACA395639590HSD3B7c.291T>A (p.Ser97Arg)
c.414T>A (p.Ser138Arg)
16g.30986173T>CCA494920778HSD3B7c.291T>C (p.Ser97=)
c.414T>C (p.Ser138=)
16g.30986173T>GCA395639592HSD3B7c.291T>G (p.Ser97Arg)
c.414T>G (p.Ser138Arg)
16g.30986173T=CA2216821152HSD3B7c.291T= (p.Ser97=)
c.414T= (p.Ser138=)
16g.30986174C>ACA395639598HSD3B7c.292C>A (p.Pro98Thr)
c.415C>A (p.Pro139Thr)
16g.30986174C=CA2216821159HSD3B7c.292C= (p.Pro98=)
c.415C= (p.Pro139=)
16g.30986174C>GCA280561605HSD3B7c.292C>G (p.Pro98Ala)
c.415C>G (p.Pro139Ala)
 dbSNP
16g.30986174C>TCA395639595HSD3B7c.292C>T (p.Pro98Ser)
c.415C>T (p.Pro139Ser)
16g.30986176dupCA115825HSD3B7c.294dup (p.Lys99GlnfsTer5)
c.417dup (p.Lys140GlnfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986175C>ACA395639601HSD3B7c.293C>A (p.Pro98His)
c.416C>A (p.Pro139His)
16g.30986175C=CA2216821165HSD3B7c.293C= (p.Pro98=)
c.416C= (p.Pro139=)
16g.30986175C>GCA395639603HSD3B7c.293C>G (p.Pro98Arg)
c.416C>G (p.Pro139Arg)
16g.30986175C>TCA8017945HSD3B7c.293C>T (p.Pro98Leu)
c.416C>T (p.Pro139Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986176C>ACA494920781HSD3B7c.294C>A (p.Pro98=)
c.417C>A (p.Pro139=)
16g.30986176C>GCA494920780HSD3B7c.294C>G (p.Pro98=)
c.417C>G (p.Pro139=)
16g.30986176C>TCA494920783HSD3B7c.294C>T (p.Pro98=)
c.417C>T (p.Pro139=)
16g.30986176_30986177delinsCACA2216821169HSD3B7c.294_295delinsCA (p.Pro98=)
c.417_418delinsCA (p.Pro139=)
16g.30986177A>CCA395639606HSD3B7c.295A>C (p.Lys99Gln)
c.418A>C (p.Lys140Gln)
16g.30986177A>GCA395639608HSD3B7c.295A>G (p.Lys99Glu)
c.418A>G (p.Lys140Glu)
 dbSNP
16g.30986177A>TCA395639609HSD3B7c.295A>T (p.Lys99Ter)
c.418A>T (p.Lys140Ter)
16g.30986178delCA2216821173HSD3B7c.296del (p.Lys99ArgfsTer14)
c.419del (p.Lys140ArgfsTer14)
 dbSNP gnomAD v4
16g.30986178A>CCA395639610HSD3B7c.296A>C (p.Lys99Thr)
c.419A>C (p.Lys140Thr)
16g.30986178A>GCA395639614HSD3B7c.296A>G (p.Lys99Arg)
c.419A>G (p.Lys140Arg)
16g.30986178A>TCA395639612HSD3B7c.296A>T (p.Lys99Met)
c.419A>T (p.Lys140Met)
16g.30986178_30986191delinsAGACCATCCATGAGCA2216821176HSD3B7c.296_309delinsAGACCATCCATGAG (p.Lys99=)
c.419_432delinsAGACCATCCATGAG (p.Lys140=)
16g.30986179G>ACA494920784HSD3B7c.297G>A (p.Lys99=)
c.420G>A (p.Lys140=)
16g.30986179G>CCA395639616HSD3B7c.297G>C (p.Lys99Asn)
c.420G>C (p.Lys140Asn)
16g.30986179G>TCA395639618HSD3B7c.297G>T (p.Lys99Asn)
c.420G>T (p.Lys140Asn)
16g.30986180_30986192delCA622171165HSD3B7c.298_310del (p.Thr100SerfsTer9)
c.421_433del (p.Thr141SerfsTer9)
 dbSNP gnomAD v2 gnomAD v4
16g.30986180delCA2632803148HSD3B7c.298del (p.Thr100ProfsTer13)
c.421del (p.Thr141ProfsTer13)
 gnomAD v4
16g.30986180A=CA2216821181HSD3B7c.298A= (p.Thr100=)
c.421A= (p.Thr141=)
16g.30986180A>CCA395639620HSD3B7c.298A>C (p.Thr100Pro)
c.421A>C (p.Thr141Pro)
 dbSNP
16g.30986180A>GCA395639622HSD3B7c.298A>G (p.Thr100Ala)
c.421A>G (p.Thr141Ala)
16g.30986180A>TCA395639625HSD3B7c.298A>T (p.Thr100Ser)
c.421A>T (p.Thr141Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.30986180_30986184delinsACCATCA2216821182HSD3B7c.298_302delinsACCAT (p.Thr100=)
c.421_425delinsACCAT (p.Thr141=)
16g.30986181C>ACA395639627HSD3B7c.299C>A (p.Thr100Asn)
c.422C>A (p.Thr141Asn)
16g.30986181C=CA2216821186HSD3B7c.299C= (p.Thr100=)
c.422C= (p.Thr141=)
16g.30986181C>GCA395639629HSD3B7c.299C>G (p.Thr100Ser)
c.422C>G (p.Thr141Ser)
16g.30986181C>TCA395639631HSD3B7c.299C>T (p.Thr100Ile)
c.422C>T (p.Thr141Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986185_30986188delCA622171167HSD3B7c.303_306del (p.Ile101MetfsTer11)
c.426_429del (p.Ile142MetfsTer11)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986182C>ACA494920785HSD3B7c.300C>A (p.Thr100=)
c.423C>A (p.Thr141=)
16g.30986182C>GCA494920786HSD3B7c.300C>G (p.Thr100=)
c.423C>G (p.Thr141=)
 gnomAD v4
16g.30986182C>TCA494920787HSD3B7c.300C>T (p.Thr100=)
c.423C>T (p.Thr141=)
 gnomAD v4
16g.30986183A>CCA395639634HSD3B7c.301A>C (p.Ile101Leu)
c.424A>C (p.Ile142Leu)
16g.30986183A>GCA395639636HSD3B7c.301A>G (p.Ile101Val)
c.424A>G (p.Ile142Val)
 gnomAD v4
16g.30986183A>TCA395639638HSD3B7c.301A>T (p.Ile101Phe)
c.424A>T (p.Ile142Phe)
16g.30986184T>ACA395639643HSD3B7c.302T>A (p.Ile101Asn)
c.425T>A (p.Ile142Asn)
 gnomAD v4
16g.30986184T>CCA395639642HSD3B7c.302T>C (p.Ile101Thr)
c.425T>C (p.Ile142Thr)
 ClinVar dbSNP
16g.30986184T>GCA395639640HSD3B7c.302T>G (p.Ile101Ser)
c.425T>G (p.Ile142Ser)
16g.30986184T=CA2216821192HSD3B7c.302T= (p.Ile101=)
c.425T= (p.Ile142=)
16g.30986185C>ACA494920788HSD3B7c.303C>A (p.Ile101=)
c.426C>A (p.Ile142=)
16g.30986185C=CA2216821197HSD3B7c.303C= (p.Ile101=)
c.426C= (p.Ile142=)
16g.30986185C>GCA395639645HSD3B7c.303C>G (p.Ile101Met)
c.426C>G (p.Ile142Met)
 dbSNP gnomAD v2 gnomAD v4
16g.30986185C>TCA494920789HSD3B7c.303C>T (p.Ile101=)
c.426C>T (p.Ile142=)
16g.30986186C>ACA395639651HSD3B7c.304C>A (p.His102Asn)
c.427C>A (p.His143Asn)
16g.30986186C=CA2216821205HSD3B7c.304C= (p.His102=)
c.427C= (p.His143=)
16g.30986186C>GCA395639648HSD3B7c.304C>G (p.His102Asp)
c.427C>G (p.His143Asp)
16g.30986186C>TCA8017946HSD3B7c.304C>T (p.His102Tyr)
c.427C>T (p.His143Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.30986187A=CA2216821212HSD3B7c.305A= (p.His102=)
c.428A= (p.His143=)
16g.30986187A>CCA395639652HSD3B7c.305A>C (p.His102Pro)
c.428A>C (p.His143Pro)
16g.30986187A>GCA395639654HSD3B7c.305A>G (p.His102Arg)
c.428A>G (p.His143Arg)
 dbSNP
16g.30986187A>TCA395639656HSD3B7c.305A>T (p.His102Leu)
c.428A>T (p.His143Leu)
16g.30986188T>ACA395639658HSD3B7c.306T>A (p.His102Gln)
c.429T>A (p.His143Gln)
16g.30986188T>CCA494920790HSD3B7c.306T>C (p.His102=)
c.429T>C (p.His143=)
 dbSNP gnomAD v2 gnomAD v4
16g.30986188T>GCA395639660HSD3B7c.306T>G (p.His102Gln)
c.429T>G (p.His143Gln)
 gnomAD v4
16g.30986188T=CA2216821214HSD3B7c.306T= (p.His102=)
c.429T= (p.His143=)
16g.30986189G>ACA280561612HSD3B7c.307G>A (p.Glu103Lys)
c.430G>A (p.Glu144Lys)
 dbSNP
16g.30986189G>CCA395639663HSD3B7c.307G>C (p.Glu103Gln)
c.430G>C (p.Glu144Gln)
16g.30986189G=CA2216821219HSD3B7c.307G= (p.Glu103=)
c.430G= (p.Glu144=)
16g.30986189G>TCA395639665HSD3B7c.307G>T (p.Glu103Ter)
c.430G>T (p.Glu144Ter)
16g.30986190A=CA2216821226HSD3B7c.308A= (p.Glu103=)
c.431A= (p.Glu144=)
16g.30986190A>CCA395639667HSD3B7c.308A>C (p.Glu103Ala)
c.431A>C (p.Glu144Ala)
16g.30986190A>GCA280561620HSD3B7c.308A>G (p.Glu103Gly)
c.431A>G (p.Glu144Gly)
 dbSNP
16g.30986190A>TCA395639670HSD3B7c.308A>T (p.Glu103Val)
c.431A>T (p.Glu144Val)
 dbSNP gnomAD v4
16g.30986191G>ACA494920791HSD3B7c.309G>A (p.Glu103=)
c.432G>A (p.Glu144=)
 gnomAD v4 COSMIC COSMIC
16g.30986191G>CCA395639674HSD3B7c.309G>C (p.Glu103Asp)
c.432G>C (p.Glu144Asp)
16g.30986191G=CA2216821230HSD3B7c.309G= (p.Glu103=)
c.432G= (p.Glu144=)
16g.30986191G>TCA395639672HSD3B7c.309G>T (p.Glu103Asp)
c.432G>T (p.Glu144Asp)
 dbSNP
16g.30986192G>ACA395639677HSD3B7c.310G>A (p.Val104Ile)
c.433G>A (p.Val145Ile)
 dbSNP gnomAD v2
16g.30986192G>CCA395639679HSD3B7c.310G>C (p.Val104Leu)
c.433G>C (p.Val145Leu)
16g.30986192G=CA2216821234HSD3B7c.310G= (p.Val104=)
c.433G= (p.Val145=)
16g.30986192G>TCA395639681HSD3B7c.310G>T (p.Val104Phe)
c.433G>T (p.Val145Phe)
16g.30986193T>ACA395639683HSD3B7c.311T>A (p.Val104Asp)
c.434T>A (p.Val145Asp)
16g.30986193T>CCA395639685HSD3B7c.311T>C (p.Val104Ala)
c.434T>C (p.Val145Ala)
16g.30986193T>GCA395639687HSD3B7c.311T>G (p.Val104Gly)
c.434T>G (p.Val145Gly)
16g.30986194C>ACA494920792HSD3B7c.312C>A (p.Val104=)
c.435C>A (p.Val145=)
16g.30986194C>GCA494920793HSD3B7c.312C>G (p.Val104=)
c.435C>G (p.Val145=)
16g.30986194C>TCA494920794HSD3B7c.312C>T (p.Val104=)
c.435C>T (p.Val145=)
16g.30986195A>CCA395639688HSD3B7c.313A>C (p.Asn105His)
c.436A>C (p.Asn146His)
16g.30986195A>GCA395639690HSD3B7c.313A>G (p.Asn105Asp)
c.436A>G (p.Asn146Asp)
16g.30986195A>TCA395639692HSD3B7c.313A>T (p.Asn105Tyr)
c.436A>T (p.Asn146Tyr)
16g.30986196A=CA2216821237HSD3B7c.314A= (p.Asn105=)
c.437A= (p.Asn146=)
16g.30986196A>CCA395639695HSD3B7c.314A>C (p.Asn105Thr)
c.437A>C (p.Asn146Thr)
16g.30986196A>GCA395639697HSD3B7c.314A>G (p.Asn105Ser)
c.437A>G (p.Asn146Ser)
 dbSNP
16g.30986196A>TCA395639699HSD3B7c.314A>T (p.Asn105Ile)
c.437A>T (p.Asn146Ile)
16g.30986197C>ACA395639704HSD3B7c.315C>A (p.Asn105Lys)
c.438C>A (p.Asn146Lys)
16g.30986197C=CA2216821241HSD3B7c.315C= (p.Asn105=)
c.438C= (p.Asn146=)
16g.30986197C>GCA395639702HSD3B7c.315C>G (p.Asn105Lys)
c.438C>G (p.Asn146Lys)
16g.30986197C>TCA8017947HSD3B7c.315C>T (p.Asn105=)
c.438C>T (p.Asn146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986198G>ACA8017948HSD3B7c.316G>A (p.Val106Met)
c.439G>A (p.Val147Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986198G>CCA395639707HSD3B7c.316G>C (p.Val106Leu)
c.439G>C (p.Val147Leu)
 gnomAD v4
16g.30986198G=CA2216821248HSD3B7c.316G= (p.Val106=)
c.439G= (p.Val147=)
16g.30986198G>TCA395639709HSD3B7c.316G>T (p.Val106Leu)
c.439G>T (p.Val147Leu)
16g.30986199T>ACA395639711HSD3B7c.317T>A (p.Val106Glu)
c.440T>A (p.Val147Glu)
16g.30986199T>CCA395639712HSD3B7c.317T>C (p.Val106Ala)
c.440T>C (p.Val147Ala)
16g.30986199T>GCA395639714HSD3B7c.317T>G (p.Val106Gly)
c.440T>G (p.Val147Gly)
16g.30986200G>ACA494920795HSD3B7c.318G>A (p.Val106=)
c.441G>A (p.Val147=)
16g.30986200G>CCA494920796HSD3B7c.318G>C (p.Val106=)
c.441G>C (p.Val147=)
16g.30986200G>TCA494920797HSD3B7c.318G>T (p.Val106=)
c.441G>T (p.Val147=)
16g.30986201C>ACA395639721HSD3B7c.319C>A (p.Gln107Lys)
c.442C>A (p.Gln148Lys)
16g.30986201C=CA2216821252HSD3B7c.319C= (p.Gln107=)
c.442C= (p.Gln148=)
16g.30986201C>GCA395639716HSD3B7c.319C>G (p.Gln107Glu)
c.442C>G (p.Gln148Glu)
16g.30986201C>TCA395639719HSD3B7c.319C>T (p.Gln107Ter)
c.442C>T (p.Gln148Ter)
 dbSNP gnomAD v4
16g.30986202A>CCA395639722HSD3B7c.320A>C (p.Gln107Pro)
c.443A>C (p.Gln148Pro)
16g.30986202A>GCA395639724HSD3B7c.320A>G (p.Gln107Arg)
c.443A>G (p.Gln148Arg)
16g.30986202A>TCA395639725HSD3B7c.320A>T (p.Gln107Leu)
c.443A>T (p.Gln148Leu)
16g.30986203G>ACA494920798HSD3B7c.321G>A (p.Gln107=)
c.444G>A (p.Gln148=)
16g.30986203G>CCA395639728HSD3B7c.321G>C (p.Gln107His)
c.444G>C (p.Gln148His)
16g.30986203G>TCA395639730HSD3B7c.321G>T (p.Gln107His)
c.444G>T (p.Gln148His)
 gnomAD v4
16g.30986204G>ACA395639732HSD3B7c.322G>A (p.Gly108Ser)
c.445G>A (p.Gly149Ser)
 gnomAD v4
16g.30986204G>CCA395639735HSD3B7c.322G>C (p.Gly108Arg)
c.445G>C (p.Gly149Arg)
16g.30986204G>TCA395639734HSD3B7c.322G>T (p.Gly108Cys)
c.445G>T (p.Gly149Cys)
16g.30986205G>ACA395639737HSD3B7c.322+1G>A (n.322+1G>A)
c.445+1G>A (n.445+1G>A)
 gnomAD v4
16g.30986205G>CCA395639739HSD3B7c.322+1G>C (n.322+1G>C)
c.445+1G>C (n.445+1G>C)
16g.30986205G=CA2216821253HSD3B7c.322+1G= (n.322+1G=)
c.445+1G= (n.445+1G=)
16g.30986205G>TCA115826HSD3B7c.322+1G>T (n.322+1G>T)
c.445+1G>T (n.445+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.30986206T>ACA395639742HSD3B7c.322+2T>A (n.322+2T>A)
c.445+2T>A (n.445+2T>A)
16g.30986206T>CCA395639744HSD3B7c.322+2T>C (n.322+2T>C)
c.445+2T>C (n.445+2T>C)
16g.30986206T>GCA395639750HSD3B7c.322+2T>G (n.322+2T>G)
c.445+2T>G (n.445+2T>G)
16g.30986207G>ACA494920800HSD3B7c.322+3G>A (n.322+3G>A)
c.445+3G>A (n.445+3G>A)
 gnomAD v4
16g.30986207G>CCA494920801HSD3B7c.322+3G>C (n.322+3G>C)
c.445+3G>C (n.445+3G>C)
16g.30986207G>TCA494920799HSD3B7c.322+3G>T (n.322+3G>T)
c.445+3G>T (n.445+3G>T)
16g.30986208A>CCA494920802HSD3B7c.322+4A>C (n.322+4A>C)
c.445+4A>C (n.445+4A>C)
16g.30986208A>GCA494920803HSD3B7c.322+4A>G (n.322+4A>G)
c.445+4A>G (n.445+4A>G)
 gnomAD v4
16g.30986208A>TCA494920804HSD3B7c.322+4A>T (n.322+4A>T)
c.445+4A>T (n.445+4A>T)
16g.30986209G>ACA494920805HSD3B7c.322+5G>A (n.322+5G>A)
c.445+5G>A (n.445+5G>A)
 dbSNP
16g.30986209G>CCA494920806HSD3B7c.322+5G>C (n.322+5G>C)
c.445+5G>C (n.445+5G>C)
16g.30986209G=CA2216821257HSD3B7c.322+5G= (n.322+5G=)
c.445+5G= (n.445+5G=)
16g.30986209G>TCA494920807HSD3B7c.322+5G>T (n.322+5G>T)
c.445+5G>T (n.445+5G>T)
16g.30986210G>ACA494920808HSD3B7c.322+6G>A (n.322+6G>A)
c.445+6G>A (n.445+6G>A)
 dbSNP gnomAD v4
16g.30986210G>CCA494920809HSD3B7c.322+6G>C (n.322+6G>C)
c.445+6G>C (n.445+6G>C)
16g.30986210G=CA2216821259HSD3B7c.322+6G= (n.322+6G=)
c.445+6G= (n.445+6G=)
16g.30986210G>TCA494920810HSD3B7c.322+6G>T (n.322+6G>T)
c.445+6G>T (n.445+6G>T)
16g.30986211A=CA2216821262HSD3B7c.322+7A= (n.322+7A=)
c.445+7A= (n.445+7A=)
16g.30986211A>CCA494920811HSD3B7c.322+7A>C (n.322+7A>C)
c.445+7A>C (n.445+7A>C)
16g.30986211A>GCA8017949HSD3B7c.322+7A>G (n.322+7A>G)
c.445+7A>G (n.445+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986211A>TCA494920812HSD3B7c.322+7A>T (n.322+7A>T)
c.445+7A>T (n.445+7A>T)
16g.30986212G>ACA494920814HSD3B7c.322+8G>A (n.322+8G>A)
c.445+8G>A (n.445+8G>A)
16g.30986212G>CCA494920815HSD3B7c.322+8G>C (n.322+8G>C)
c.445+8G>C (n.445+8G>C)
 dbSNP
16g.30986212G>TCA494920813HSD3B7c.322+8G>T (n.322+8G>T)
c.445+8G>T (n.445+8G>T)
16g.30986215C=CA2216821265HSD3B7c.322+11C= (n.322+11C=)
c.445+11C= (n.445+11C=)
16g.30986215C>GCA719897398HSD3B7c.322+11C>G (n.322+11C>G)
c.445+11C>G (n.445+11C>G)
 dbSNP gnomAD v4
16g.30986217G>ACA2632803164HSD3B7c.322+13G>A (n.322+13G>A)
c.445+13G>A (n.445+13G>A)
 gnomAD v4
16g.30986219A=CA2216821269HSD3B7c.322+15A= (n.322+15A=)
c.445+15A= (n.445+15A=)
16g.30986219A>CCA2216821270HSD3B7c.322+15A>C (n.322+15A>C)
c.445+15A>C (n.445+15A>C)
 dbSNP
16g.30986219A>TCA2632803166HSD3B7c.322+15A>T (n.322+15A>T)
c.445+15A>T (n.445+15A>T)
 gnomAD v4
16g.30986220C=CA2216821277HSD3B7c.322+16C= (n.322+16C=)
c.445+16C= (n.445+16C=)
16g.30986220C>TCA622171170HSD3B7c.322+16C>T (n.322+16C>T)
c.445+16C>T (n.445+16C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30986221A=CA2216821283HSD3B7c.322+17A= (n.322+17A=)
c.445+17A= (n.445+17A=)
16g.30986221A>CCA8017950HSD3B7c.322+17A>C (n.322+17A>C)
c.445+17A>C (n.445+17A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986221A>GCA280561652HSD3B7c.322+17A>G (n.322+17A>G)
c.445+17A>G (n.445+17A>G)
 dbSNP
16g.30986222C=CA2216821293HSD3B7c.322+18C= (n.322+18C=)
c.445+18C= (n.445+18C=)
16g.30986222C>GCA2632803169HSD3B7c.322+18C>G (n.322+18C>G)
c.445+18C>G (n.445+18C>G)
 gnomAD v4
16g.30986222C>TCA8017951HSD3B7c.322+18C>T (n.322+18C>T)
c.445+18C>T (n.445+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986224_30986226dupCA622171171HSD3B7c.322+20_322+22dup (n.322+20_322+22dup)
c.445+20_445+22dup (n.445+20_445+22dup)
 dbSNP gnomAD v2 gnomAD v4
16g.30986224C>GCA2632803170HSD3B7c.322+20C>G (n.322+20C>G)
c.445+20C>G (n.445+20C>G)
 gnomAD v4
16g.30986227G>ACA622171172HSD3B7c.322+23G>A (n.322+23G>A)
c.445+23G>A (n.445+23G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.30986227G=CA2216821295HSD3B7c.322+23G= (n.322+23G=)
c.445+23G= (n.445+23G=)
16g.30986228G>ACA622171173HSD3B7c.322+24G>A (n.322+24G>A)
c.445+24G>A (n.445+24G>A)
 dbSNP gnomAD v2
16g.30986228G=CA2216821298HSD3B7c.322+24G= (n.322+24G=)
c.445+24G= (n.445+24G=)
16g.30986229C>ACA2575973566HSD3B7c.322+25C>A (n.322+25C>A)
c.445+25C>A (n.445+25C>A)
16g.30986230C>ACA2632803171HSD3B7c.322+26C>A (n.322+26C>A)
c.445+26C>A (n.445+26C>A)
 gnomAD v4
16g.30986230C=CA2216821302HSD3B7c.322+26C= (n.322+26C=)
c.445+26C= (n.445+26C=)
16g.30986230C>TCA622171174HSD3B7c.322+26C>T (n.322+26C>T)
c.445+26C>T (n.445+26C>T)
 dbSNP gnomAD v2
16g.30986231A=CA2216821303HSD3B7c.322+27A= (n.322+27A=)
c.445+27A= (n.445+27A=)
16g.30986231A>TCA622171175HSD3B7c.322+27A>T (n.322+27A>T)
c.445+27A>T (n.445+27A>T)
 dbSNP gnomAD v2 gnomAD v4
16g.30986232T>CCA622171177HSD3B7c.322+28T>C (n.322+28T>C)
c.445+28T>C (n.445+28T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.30986232T=CA2216821306HSD3B7c.322+28T= (n.322+28T=)
c.445+28T= (n.445+28T=)
16g.30986233C=CA2216821313HSD3B7c.322+29C= (n.322+29C=)
c.445+29C= (n.445+29C=)
16g.30986233C>TCA622171178HSD3B7c.322+29C>T (n.322+29C>T)
c.445+29C>T (n.445+29C>T)
 dbSNP gnomAD v2
16g.30986234T>CCA2632803172HSD3B7c.322+30T>C (n.322+30T>C)
c.445+30T>C (n.445+30T>C)
 gnomAD v4
16g.30986236G>CCA8017952HSD3B7c.322+32G>C (n.322+32G>C)
c.445+32G>C (n.445+32G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986236G=CA2216821340HSD3B7c.322+32G= (n.322+32G=)
c.445+32G= (n.445+32G=)
16g.30986236G>TCA2632803173HSD3B7c.322+32G>T (n.322+32G>T)
c.445+32G>T (n.445+32G>T)
 gnomAD v4
16g.30986237C=CA2216821343HSD3B7c.322+33C= (n.322+33C=)
c.445+33C= (n.445+33C=)
16g.30986237C>TCA622171121HSD3B7c.322+33C>T (n.322+33C>T)
c.445+33C>T (n.445+33C>T)
 dbSNP gnomAD v2
16g.30986238C>ACA2575973567HSD3B7c.322+34C>A (n.322+34C>A)
c.445+34C>A (n.445+34C>A)
16g.30986238C=CA2216821351HSD3B7c.322+34C= (n.322+34C=)
c.445+34C= (n.445+34C=)
16g.30986238C>TCA8017953HSD3B7c.322+34C>T (n.322+34C>T)
c.445+34C>T (n.445+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30986238_30986242dupCA719897445HSD3B7c.322+34_322+38dup (n.322+34_322+38dup)
c.445+34_445+38dup (n.445+34_445+38dup)
 dbSNP gnomAD v4
16g.30986243_30986246delCA622171122HSD3B7c.322+39_322+42del (n.322+39_322+42del)
c.445+39_445+42del (n.445+39_445+42del)
 gnomAD v2 gnomAD v4
16g.30986240G>CCA622171123HSD3B7c.322+36G>C (n.322+36G>C)
c.445+36G>C (n.445+36G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.30986240G=CA2216821353HSD3B7c.322+36G= (n.322+36G=)
c.445+36G= (n.445+36G=)
16g.30986240G>TCA2632803179HSD3B7c.322+36G>T (n.322+36G>T)
c.445+36G>T (n.445+36G>T)
 gnomAD v4
16g.30986241T>ACA2216821357HSD3B7c.322+37T>A (n.322+37T>A)
c.445+37T>A (n.445+37T>A)
 dbSNP gnomAD v4
16g.30986241T=CA2216821356HSD3B7c.322+37T= (n.322+37T=)
c.445+37T= (n.445+37T=)

Number of alleles fetched