Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.124500130A>CCA374885269NR5A1c.830T>G (p.Val277Gly)
c.182T>G (p.Val61Gly)
c.569T>G (p.Val190Gly)
9g.124500130A>GCA374885273NR5A1c.830T>C (p.Val277Ala)
c.182T>C (p.Val61Ala)
c.569T>C (p.Val190Ala)
9g.124500130A>TCA374885267NR5A1c.830T>A (p.Val277Glu)
c.182T>A (p.Val61Glu)
c.569T>A (p.Val190Glu)
9g.124500131C>ACA374885276NR5A1c.829G>T (p.Val277Leu)
c.181G>T (p.Val61Leu)
c.568G>T (p.Val190Leu)
 gnomAD v4
9g.124500131C>GCA374885280NR5A1c.829G>C (p.Val277Leu)
c.181G>C (p.Val61Leu)
c.568G>C (p.Val190Leu)
9g.124500131C>TCA374885283NR5A1c.829G>A (p.Val277Met)
c.181G>A (p.Val61Met)
c.568G>A (p.Val190Met)
 gnomAD v4
9g.124500132G>ACA5235388NR5A1c.828C>T (p.Ile276=)
c.180C>T (p.Ile60=)
c.567C>T (p.Ile189=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500132G>CCA374885290NR5A1c.828C>G (p.Ile276Met)
c.180C>G (p.Ile60Met)
c.567C>G (p.Ile189Met)
9g.124500132G=CA1878468057NR5A1c.828C= (p.Ile276=)
c.180C= (p.Ile60=)
c.567C= (p.Ile189=)
9g.124500132G>TCA467207927NR5A1c.828C>A (p.Ile276=)
c.180C>A (p.Ile60=)
c.567C>A (p.Ile189=)
9g.124500133A>CCA374885299NR5A1c.827T>G (p.Ile276Ser)
c.179T>G (p.Ile60Ser)
c.566T>G (p.Ile189Ser)
9g.124500133A>GCA374885295NR5A1c.827T>C (p.Ile276Thr)
c.179T>C (p.Ile60Thr)
c.566T>C (p.Ile189Thr)
9g.124500133A>TCA374885294NR5A1c.827T>A (p.Ile276Asn)
c.179T>A (p.Ile60Asn)
c.566T>A (p.Ile189Asn)
9g.124500134T>ACA374885302NR5A1c.826A>T (p.Ile276Phe)
c.178A>T (p.Ile60Phe)
c.565A>T (p.Ile189Phe)
9g.124500134T>CCA374885305NR5A1c.826A>G (p.Ile276Val)
c.178A>G (p.Ile60Val)
c.565A>G (p.Ile189Val)
 dbSNP gnomAD v4
9g.124500134T>GCA374885308NR5A1c.826A>C (p.Ile276Leu)
c.178A>C (p.Ile60Leu)
c.565A>C (p.Ile189Leu)
 gnomAD v4
9g.124500134T=CA1878468062NR5A1c.826A= (p.Ile276=)
c.178A= (p.Ile60=)
c.565A= (p.Ile189=)
9g.124500135G>ACA467207934NR5A1c.825C>T (p.Ser275=)
c.177C>T (p.Ser59=)
c.564C>T (p.Ser188=)
 gnomAD v4
9g.124500135G>CCA467207935NR5A1c.825C>G (p.Ser275=)
c.177C>G (p.Ser59=)
c.564C>G (p.Ser188=)
9g.124500135G>TCA467207937NR5A1c.825C>A (p.Ser275=)
c.177C>A (p.Ser59=)
c.564C>A (p.Ser188=)
9g.124500136G>ACA374885313NR5A1c.824C>T (p.Ser275Phe)
c.176C>T (p.Ser59Phe)
c.563C>T (p.Ser188Phe)
 dbSNP
9g.124500136G>CCA374885314NR5A1c.824C>G (p.Ser275Cys)
c.176C>G (p.Ser59Cys)
c.563C>G (p.Ser188Cys)
 gnomAD v4
9g.124500136G=CA1878468065NR5A1c.824C= (p.Ser275=)
c.176C= (p.Ser59=)
c.563C= (p.Ser188=)
9g.124500136G>TCA374885316NR5A1c.824C>A (p.Ser275Tyr)
c.176C>A (p.Ser59Tyr)
c.563C>A (p.Ser188Tyr)
9g.124500137A>CCA374885321NR5A1c.823T>G (p.Ser275Ala)
c.175T>G (p.Ser59Ala)
c.562T>G (p.Ser188Ala)
9g.124500137A>GCA374885327NR5A1c.823T>C (p.Ser275Pro)
c.175T>C (p.Ser59Pro)
c.562T>C (p.Ser188Pro)
9g.124500137A>TCA374885325NR5A1c.823T>A (p.Ser275Thr)
c.175T>A (p.Ser59Thr)
c.562T>A (p.Ser188Thr)
9g.124500138G>ACA467207943NR5A1c.822C>T (p.Ile274=)
c.174C>T (p.Ile58=)
c.561C>T (p.Ile187=)
9g.124500138G>CCA374885330NR5A1c.822C>G (p.Ile274Met)
c.174C>G (p.Ile58Met)
c.561C>G (p.Ile187Met)
9g.124500138G>TCA467207944NR5A1c.822C>A (p.Ile274=)
c.174C>A (p.Ile58=)
c.561C>A (p.Ile187=)
9g.124500139A=CA1878468069NR5A1c.821T= (p.Ile274=)
c.173T= (p.Ile58=)
c.560T= (p.Ile187=)
9g.124500139A>CCA374885334NR5A1c.821T>G (p.Ile274Ser)
c.173T>G (p.Ile58Ser)
c.560T>G (p.Ile187Ser)
9g.124500139A>GCA199728548NR5A1c.821T>C (p.Ile274Thr)
c.173T>C (p.Ile58Thr)
c.560T>C (p.Ile187Thr)
 dbSNP gnomAD v4
9g.124500139A>TCA374885338NR5A1c.821T>A (p.Ile274Asn)
c.173T>A (p.Ile58Asn)
c.560T>A (p.Ile187Asn)
9g.124500140T>ACA374885341NR5A1c.820A>T (p.Ile274Phe)
c.172A>T (p.Ile58Phe)
c.559A>T (p.Ile187Phe)
9g.124500140T>CCA374885343NR5A1c.820A>G (p.Ile274Val)
c.172A>G (p.Ile58Val)
c.559A>G (p.Ile187Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500140T>GCA374885346NR5A1c.820A>C (p.Ile274Leu)
c.172A>C (p.Ile58Leu)
c.559A>C (p.Ile187Leu)
9g.124500140T=CA1878468078NR5A1c.820A= (p.Ile274=)
c.172A= (p.Ile58=)
c.559A= (p.Ile187=)
9g.124500141G>ACA5235389NR5A1c.819C>T (p.Phe273=)
c.171C>T (p.Phe57=)
c.558C>T (p.Phe186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500141G>CCA374885349NR5A1c.819C>G (p.Phe273Leu)
c.171C>G (p.Phe57Leu)
c.558C>G (p.Phe186Leu)
9g.124500141G=CA1878468081NR5A1c.819C= (p.Phe273=)
c.171C= (p.Phe57=)
c.558C= (p.Phe186=)
9g.124500141G>TCA374885350NR5A1c.819C>A (p.Phe273Leu)
c.171C>A (p.Phe57Leu)
c.558C>A (p.Phe186Leu)
9g.124500142A>CCA374885353NR5A1c.818T>G (p.Phe273Cys)
c.170T>G (p.Phe57Cys)
c.557T>G (p.Phe186Cys)
 gnomAD v4
9g.124500142A>GCA374885356NR5A1c.818T>C (p.Phe273Ser)
c.170T>C (p.Phe57Ser)
c.557T>C (p.Phe186Ser)
9g.124500142A>TCA374885354NR5A1c.818T>A (p.Phe273Tyr)
c.170T>A (p.Phe57Tyr)
c.557T>A (p.Phe186Tyr)
9g.124500143A>CCA374885359NR5A1c.817T>G (p.Phe273Val)
c.169T>G (p.Phe57Val)
c.556T>G (p.Phe186Val)
9g.124500143A>GCA374885362NR5A1c.817T>C (p.Phe273Leu)
c.169T>C (p.Phe57Leu)
c.556T>C (p.Phe186Leu)
9g.124500143A>TCA374885360NR5A1c.817T>A (p.Phe273Ile)
c.169T>A (p.Phe57Ile)
c.556T>A (p.Phe186Ile)
9g.124500144G>ACA467207956NR5A1c.816C>T (p.Thr272=)
c.168C>T (p.Thr56=)
c.555C>T (p.Thr185=)
9g.124500144G>CCA467207958NR5A1c.816C>G (p.Thr272=)
c.168C>G (p.Thr56=)
c.555C>G (p.Thr185=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500144G=CA1878468084NR5A1c.816C= (p.Thr272=)
c.168C= (p.Thr56=)
c.555C= (p.Thr185=)
9g.124500144G>TCA467207961NR5A1c.816C>A (p.Thr272=)
c.168C>A (p.Thr56=)
c.555C>A (p.Thr185=)
 dbSNP
9g.124500145G>ACA374885363NR5A1c.815C>T (p.Thr272Ile)
c.167C>T (p.Thr56Ile)
c.554C>T (p.Thr185Ile)
 dbSNP gnomAD v4
9g.124500145G>CCA374885364NR5A1c.815C>G (p.Thr272Ser)
c.167C>G (p.Thr56Ser)
c.554C>G (p.Thr185Ser)
9g.124500145G=CA1878468091NR5A1c.815C= (p.Thr272=)
c.167C= (p.Thr56=)
c.554C= (p.Thr185=)
9g.124500145G>TCA374885365NR5A1c.815C>A (p.Thr272Asn)
c.167C>A (p.Thr56Asn)
c.554C>A (p.Thr185Asn)
9g.124500146T>ACA374885367NR5A1c.814A>T (p.Thr272Ser)
c.166A>T (p.Thr56Ser)
c.553A>T (p.Thr185Ser)
 gnomAD v4
9g.124500146T>CCA374885369NR5A1c.814A>G (p.Thr272Ala)
c.166A>G (p.Thr56Ala)
c.553A>G (p.Thr185Ala)
9g.124500146T>GCA374885370NR5A1c.814A>C (p.Thr272Pro)
c.166A>C (p.Thr56Pro)
c.553A>C (p.Thr185Pro)
9g.124500147C>ACA374885372NR5A1c.813G>T (p.Gln271His)
c.165G>T (p.Gln55His)
c.552G>T (p.Gln184His)
 gnomAD v4
9g.124500147C>GCA374885373NR5A1c.813G>C (p.Gln271His)
c.165G>C (p.Gln55His)
c.552G>C (p.Gln184His)
9g.124500147C>TCA467207965NR5A1c.813G>A (p.Gln271=)
c.165G>A (p.Gln55=)
c.552G>A (p.Gln184=)
 dbSNP
9g.124500148T>ACA374885375NR5A1c.812A>T (p.Gln271Leu)
c.164A>T (p.Gln55Leu)
c.551A>T (p.Gln184Leu)
9g.124500148T>CCA374885377NR5A1c.812A>G (p.Gln271Arg)
c.164A>G (p.Gln55Arg)
c.551A>G (p.Gln184Arg)
9g.124500148T>GCA374885379NR5A1c.812A>C (p.Gln271Pro)
c.164A>C (p.Gln55Pro)
c.551A>C (p.Gln184Pro)
9g.124500149G>ACA374885385NR5A1c.811C>T (p.Gln271Ter)
c.163C>T (p.Gln55Ter)
c.550C>T (p.Gln184Ter)
 COSMIC COSMIC
9g.124500149G>CCA374885381NR5A1c.811C>G (p.Gln271Glu)
c.163C>G (p.Gln55Glu)
c.550C>G (p.Gln184Glu)
 gnomAD v4
9g.124500149G>TCA374885383NR5A1c.811C>A (p.Gln271Lys)
c.163C>A (p.Gln55Lys)
c.550C>A (p.Gln184Lys)
9g.124500150G>ACA5235390NR5A1c.810C>T (p.Asp270=)
c.162C>T (p.Asp54=)
c.549C>T (p.Asp183=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500150G>CCA374885388NR5A1c.810C>G (p.Asp270Glu)
c.162C>G (p.Asp54Glu)
c.549C>G (p.Asp183Glu)
9g.124500150G=CA1878468095NR5A1c.810C= (p.Asp270=)
c.162C= (p.Asp54=)
c.549C= (p.Asp183=)
9g.124500150G>TCA374885390NR5A1c.810C>A (p.Asp270Glu)
c.162C>A (p.Asp54Glu)
c.549C>A (p.Asp183Glu)
 dbSNP
9g.124500151T>ACA374885392NR5A1c.809A>T (p.Asp270Val)
c.161A>T (p.Asp54Val)
c.548A>T (p.Asp183Val)
9g.124500151T>CCA374885394NR5A1c.809A>G (p.Asp270Gly)
c.161A>G (p.Asp54Gly)
c.548A>G (p.Asp183Gly)
9g.124500151T>GCA374885395NR5A1c.809A>C (p.Asp270Ala)
c.161A>C (p.Asp54Ala)
c.548A>C (p.Asp183Ala)
9g.124500152C>ACA374885396NR5A1c.808G>T (p.Asp270Tyr)
c.160G>T (p.Asp54Tyr)
c.547G>T (p.Asp183Tyr)
9g.124500152C=CA1878468100NR5A1c.808G= (p.Asp270=)
c.160G= (p.Asp54=)
c.547G= (p.Asp183=)
9g.124500152C>GCA374885398NR5A1c.808G>C (p.Asp270His)
c.160G>C (p.Asp54His)
c.547G>C (p.Asp183His)
9g.124500152C>TCA199728588NR5A1c.808G>A (p.Asp270Asn)
c.160G>A (p.Asp54Asn)
c.547G>A (p.Asp183Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.124500153G>ACA5235391NR5A1c.807C>T (p.Ala269=)
c.159C>T (p.Ala53=)
c.546C>T (p.Ala182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500153G>CCA467207973NR5A1c.807C>G (p.Ala269=)
c.159C>G (p.Ala53=)
c.546C>G (p.Ala182=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500153G=CA1878468103NR5A1c.807C= (p.Ala269=)
c.159C= (p.Ala53=)
c.546C= (p.Ala182=)
9g.124500153G>TCA467207974NR5A1c.807C>A (p.Ala269=)
c.159C>A (p.Ala53=)
c.546C>A (p.Ala182=)
9g.124500154G>ACA5235392NR5A1c.806C>T (p.Ala269Val)
c.158C>T (p.Ala53Val)
c.545C>T (p.Ala182Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500154G>CCA374885405NR5A1c.806C>G (p.Ala269Gly)
c.158C>G (p.Ala53Gly)
c.545C>G (p.Ala182Gly)
9g.124500154G=CA1878468108NR5A1c.806C= (p.Ala269=)
c.158C= (p.Ala53=)
c.545C= (p.Ala182=)
9g.124500154G>TCA374885402NR5A1c.806C>A (p.Ala269Asp)
c.158C>A (p.Ala53Asp)
c.545C>A (p.Ala182Asp)
9g.124500155C>ACA374885407NR5A1c.805G>T (p.Ala269Ser)
c.157G>T (p.Ala53Ser)
c.544G>T (p.Ala182Ser)
9g.124500155C>GCA374885408NR5A1c.805G>C (p.Ala269Pro)
c.157G>C (p.Ala53Pro)
c.544G>C (p.Ala182Pro)
9g.124500155C>TCA374885410NR5A1c.805G>A (p.Ala269Thr)
c.157G>A (p.Ala53Thr)
c.544G>A (p.Ala182Thr)
 gnomAD v4
9g.124500156C>ACA374885412NR5A1c.804G>T (p.Met268Ile)
c.156G>T (p.Met52Ile)
c.543G>T (p.Met181Ile)
9g.124500156C>GCA374885415NR5A1c.804G>C (p.Met268Ile)
c.156G>C (p.Met52Ile)
c.543G>C (p.Met181Ile)
9g.124500156C>TCA374885417NR5A1c.804G>A (p.Met268Ile)
c.156G>A (p.Met52Ile)
c.543G>A (p.Met181Ile)
9g.124500157A>CCA374885421NR5A1c.803T>G (p.Met268Arg)
c.155T>G (p.Met52Arg)
c.542T>G (p.Met181Arg)
9g.124500157A>GCA374885423NR5A1c.803T>C (p.Met268Thr)
c.155T>C (p.Met52Thr)
c.542T>C (p.Met181Thr)
9g.124500157A>TCA374885426NR5A1c.803T>A (p.Met268Lys)
c.155T>A (p.Met52Lys)
c.542T>A (p.Met181Lys)
9g.124500158T>ACA374885429NR5A1c.802A>T (p.Met268Leu)
c.154A>T (p.Met52Leu)
c.541A>T (p.Met181Leu)
9g.124500158T>CCA374885432NR5A1c.802A>G (p.Met268Val)
c.154A>G (p.Met52Val)
c.541A>G (p.Met181Val)
9g.124500158T>GCA374885435NR5A1c.802A>C (p.Met268Leu)
c.154A>C (p.Met52Leu)
c.541A>C (p.Met181Leu)
9g.124500159T>ACA374885440NR5A1c.801A>T (p.Arg267Ser)
c.153A>T (p.Arg51Ser)
c.540A>T (p.Arg180Ser)
9g.124500159T>CCA467207985NR5A1c.801A>G (p.Arg267=)
c.153A>G (p.Arg51=)
c.540A>G (p.Arg180=)
9g.124500159T>GCA374885437NR5A1c.801A>C (p.Arg267Ser)
c.153A>C (p.Arg51Ser)
c.540A>C (p.Arg180Ser)
9g.124500160C>ACA374885442NR5A1c.800G>T (p.Arg267Ile)
c.152G>T (p.Arg51Ile)
c.539G>T (p.Arg180Ile)
9g.124500160C=CA1878468113NR5A1c.800G= (p.Arg267=)
c.152G= (p.Arg51=)
c.539G= (p.Arg180=)
9g.124500160C>GCA374885444NR5A1c.800G>C (p.Arg267Thr)
c.152G>C (p.Arg51Thr)
c.539G>C (p.Arg180Thr)
9g.124500160C>TCA5235393NR5A1c.800G>A (p.Arg267Lys)
c.152G>A (p.Arg51Lys)
c.539G>A (p.Arg180Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500161T>ACA374885450NR5A1c.799A>T (p.Arg267Ter)
c.151A>T (p.Arg51Ter)
c.538A>T (p.Arg180Ter)
9g.124500161T>CCA374885454NR5A1c.799A>G (p.Arg267Gly)
c.151A>G (p.Arg51Gly)
c.538A>G (p.Arg180Gly)
9g.124500161T>GCA467207990NR5A1c.799A>C (p.Arg267=)
c.151A>C (p.Arg51=)
c.538A>C (p.Arg180=)
9g.124500162G>ACA467207991NR5A1c.798C>T (p.Cys266=)
c.150C>T (p.Cys50=)
c.537C>T (p.Cys179=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500162G>CCA374885457NR5A1c.798C>G (p.Cys266Trp)
c.150C>G (p.Cys50Trp)
c.537C>G (p.Cys179Trp)
9g.124500162G=CA1878468121NR5A1c.798C= (p.Cys266=)
c.150C= (p.Cys50=)
c.537C= (p.Cys179=)
9g.124500162G>TCA374885460NR5A1c.798C>A (p.Cys266Ter)
c.150C>A (p.Cys50Ter)
c.537C>A (p.Cys179Ter)
9g.124500163C>ACA374885464NR5A1c.797G>T (p.Cys266Phe)
c.149G>T (p.Cys50Phe)
c.536G>T (p.Cys179Phe)
 dbSNP
9g.124500163C=CA1878468127NR5A1c.797G= (p.Cys266=)
c.149G= (p.Cys50=)
c.536G= (p.Cys179=)
9g.124500163C>GCA374885466NR5A1c.797G>C (p.Cys266Ser)
c.149G>C (p.Cys50Ser)
c.536G>C (p.Cys179Ser)
9g.124500163C>TCA374885470NR5A1c.797G>A (p.Cys266Tyr)
c.149G>A (p.Cys50Tyr)
c.536G>A (p.Cys179Tyr)
9g.124500164A>CCA374885474NR5A1c.796T>G (p.Cys266Gly)
c.148T>G (p.Cys50Gly)
c.535T>G (p.Cys179Gly)
9g.124500164A>GCA374885476NR5A1c.796T>C (p.Cys266Arg)
c.148T>C (p.Cys50Arg)
c.535T>C (p.Cys179Arg)
9g.124500164A>TCA374885478NR5A1c.796T>A (p.Cys266Ser)
c.148T>A (p.Cys50Ser)
c.535T>A (p.Cys179Ser)
9g.124500165C>ACA467207998NR5A1c.795G>T (p.Leu265=)
c.147G>T (p.Leu49=)
c.534G>T (p.Leu178=)
9g.124500165C=CA1878468133NR5A1c.795G= (p.Leu265=)
c.147G= (p.Leu49=)
c.534G= (p.Leu178=)
9g.124500165C>GCA467207999NR5A1c.795G>C (p.Leu265=)
c.147G>C (p.Leu49=)
c.534G>C (p.Leu178=)
9g.124500165C>TCA199728619NR5A1c.795G>A (p.Leu265=)
c.147G>A (p.Leu49=)
c.534G>A (p.Leu178=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500166A>CCA374885489NR5A1c.794T>G (p.Leu265Arg)
c.146T>G (p.Leu49Arg)
c.533T>G (p.Leu178Arg)
9g.124500166A>GCA374885483NR5A1c.794T>C (p.Leu265Pro)
c.146T>C (p.Leu49Pro)
c.533T>C (p.Leu178Pro)
9g.124500166A>TCA374885481NR5A1c.794T>A (p.Leu265Gln)
c.146T>A (p.Leu49Gln)
c.533T>A (p.Leu178Gln)
9g.124500169_124500171dupCA5235394NR5A1c.792_794dup (p.Leu265_Cys266insLeu)
c.144_146dup (p.Leu49_Cys50insLeu)
c.531_533dup (p.Leu178_Cys179insLeu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500167G>ACA5235395NR5A1c.793C>T (p.Leu265=)
c.145C>T (p.Leu49=)
c.532C>T (p.Leu178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500167G>CCA374885492NR5A1c.793C>G (p.Leu265Val)
c.145C>G (p.Leu49Val)
c.532C>G (p.Leu178Val)
9g.124500167G=CA1878468144NR5A1c.793C= (p.Leu265=)
c.145C= (p.Leu49=)
c.532C= (p.Leu178=)
9g.124500167G>TCA374885495NR5A1c.793C>A (p.Leu265Met)
c.145C>A (p.Leu49Met)
c.532C>A (p.Leu178Met)
9g.124500168G>ACA467208005NR5A1c.792C>T (p.Leu264=)
c.144C>T (p.Leu48=)
c.531C>T (p.Leu177=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500168G>CCA467208006NR5A1c.792C>G (p.Leu264=)
c.144C>G (p.Leu48=)
c.531C>G (p.Leu177=)
9g.124500168G=CA1878468149NR5A1c.792C= (p.Leu264=)
c.144C= (p.Leu48=)
c.531C= (p.Leu177=)
9g.124500168G>TCA467208007NR5A1c.792C>A (p.Leu264=)
c.144C>A (p.Leu48=)
c.531C>A (p.Leu177=)
9g.124500169A>CCA374885501NR5A1c.791T>G (p.Leu264Arg)
c.143T>G (p.Leu48Arg)
c.530T>G (p.Leu177Arg)
9g.124500169A>GCA374885503NR5A1c.791T>C (p.Leu264Pro)
c.143T>C (p.Leu48Pro)
c.530T>C (p.Leu177Pro)
9g.124500169A>TCA374885504NR5A1c.791T>A (p.Leu264His)
c.143T>A (p.Leu48His)
c.530T>A (p.Leu177His)
9g.124500173_124500220delCA2695211079NR5A1c.744_791del (p.Gln249_Leu264del)
c.96_143del (p.Gln33_Leu48del)
c.483_530del (p.Gln162_Leu177del)
9g.124500170G>ACA374885512NR5A1c.790C>T (p.Leu264Phe)
c.142C>T (p.Leu48Phe)
c.529C>T (p.Leu177Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.124500170G>CCA374885509NR5A1c.790C>G (p.Leu264Val)
c.142C>G (p.Leu48Val)
c.529C>G (p.Leu177Val)
9g.124500170G=CA1878468152NR5A1c.790C= (p.Leu264=)
c.142C= (p.Leu48=)
c.529C= (p.Leu177=)
9g.124500170G>TCA374885506NR5A1c.790C>A (p.Leu264Ile)
c.142C>A (p.Leu48Ile)
c.529C>A (p.Leu177Ile)
9g.124500170_124500171delinsAACA645548665NR5A1c.789_790delinsTT (p.Leu264Phe)
c.141_142delinsTT (p.Leu48Phe)
c.528_529delinsTT (p.Leu177Phe)
 COSMIC COSMIC
9g.124500171G>ACA467208011NR5A1c.789C>T (p.Gly263=)
c.141C>T (p.Gly47=)
c.528C>T (p.Gly176=)
9g.124500171G>CCA467208012NR5A1c.789C>G (p.Gly263=)
c.141C>G (p.Gly47=)
c.528C>G (p.Gly176=)
9g.124500171G>TCA467208013NR5A1c.789C>A (p.Gly263=)
c.141C>A (p.Gly47=)
c.528C>A (p.Gly176=)
9g.124500172C>ACA374885516NR5A1c.788G>T (p.Gly263Val)
c.140G>T (p.Gly47Val)
c.527G>T (p.Gly176Val)
9g.124500172C>GCA374885518NR5A1c.788G>C (p.Gly263Ala)
c.140G>C (p.Gly47Ala)
c.527G>C (p.Gly176Ala)
9g.124500172C>TCA374885521NR5A1c.788G>A (p.Gly263Asp)
c.140G>A (p.Gly47Asp)
c.527G>A (p.Gly176Asp)
9g.124500173C>ACA374885524NR5A1c.787G>T (p.Gly263Cys)
c.139G>T (p.Gly47Cys)
c.526G>T (p.Gly176Cys)
9g.124500173C=CA1878468158NR5A1c.787G= (p.Gly263=)
c.139G= (p.Gly47=)
c.526G= (p.Gly176=)
9g.124500173C>GCA374885526NR5A1c.787G>C (p.Gly263Arg)
c.139G>C (p.Gly47Arg)
c.526G>C (p.Gly176Arg)
9g.124500173C>TCA5235396NR5A1c.787G>A (p.Gly263Ser)
c.139G>A (p.Gly47Ser)
c.526G>A (p.Gly176Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500174G>ACA5235397NR5A1c.786C>T (p.Phe262=)
c.138C>T (p.Phe46=)
c.525C>T (p.Phe175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.124500174G>CCA374885533NR5A1c.786C>G (p.Phe262Leu)
c.138C>G (p.Phe46Leu)
c.525C>G (p.Phe175Leu)
9g.124500174G=CA1878468159NR5A1c.786C= (p.Phe262=)
c.138C= (p.Phe46=)
c.525C= (p.Phe175=)
9g.124500174G>TCA374885538NR5A1c.786C>A (p.Phe262Leu)
c.138C>A (p.Phe46Leu)
c.525C>A (p.Phe175Leu)
9g.124500174_124500175delCA2785906234NR5A1c.785_786del (p.Phe262TrpfsTer?)
c.137_138del (p.Phe46TrpfsTer?)
c.524_525del (p.Phe175TrpfsTer?)
9g.124500175A>CCA374885544NR5A1c.785T>G (p.Phe262Cys)
c.137T>G (p.Phe46Cys)
c.524T>G (p.Phe175Cys)
9g.124500175A>GCA374885547NR5A1c.785T>C (p.Phe262Ser)
c.137T>C (p.Phe46Ser)
c.524T>C (p.Phe175Ser)
9g.124500175A>TCA374885551NR5A1c.785T>A (p.Phe262Tyr)
c.137T>A (p.Phe46Tyr)
c.524T>A (p.Phe175Tyr)
9g.124500176A>CCA374885555NR5A1c.784T>G (p.Phe262Val)
c.136T>G (p.Phe46Val)
c.523T>G (p.Phe175Val)
9g.124500176A>GCA374885557NR5A1c.784T>C (p.Phe262Leu)
c.136T>C (p.Phe46Leu)
c.523T>C (p.Phe175Leu)
9g.124500176A>TCA374885563NR5A1c.784T>A (p.Phe262Ile)
c.136T>A (p.Phe46Ile)
c.523T>A (p.Phe175Ile)
9g.124500176_124500185delCA645548666NR5A1c.775_784del (p.Pro259SerfsTer?)
c.127_136del (p.Pro43SerfsTer?)
c.514_523del (p.Pro172SerfsTer?)
 COSMIC COSMIC
9g.124500177G>ACA467208019NR5A1c.783C>T (p.Ala261=)
c.135C>T (p.Ala45=)
c.522C>T (p.Ala174=)
 dbSNP gnomAD v2
9g.124500177G>CCA467208021NR5A1c.783C>G (p.Ala261=)
c.135C>G (p.Ala45=)
c.522C>G (p.Ala174=)
9g.124500177G=CA1878468162NR5A1c.783C= (p.Ala261=)
c.135C= (p.Ala45=)
c.522C= (p.Ala174=)
9g.124500177G>TCA467208024NR5A1c.783C>A (p.Ala261=)
c.135C>A (p.Ala45=)
c.522C>A (p.Ala174=)
9g.124500178G>ACA374885567NR5A1c.782C>T (p.Ala261Val)
c.134C>T (p.Ala45Val)
c.521C>T (p.Ala174Val)
 COSMIC COSMIC
9g.124500178G>CCA374885570NR5A1c.782C>G (p.Ala261Gly)
c.134C>G (p.Ala45Gly)
c.521C>G (p.Ala174Gly)
 dbSNP
9g.124500178G>TCA374885572NR5A1c.782C>A (p.Ala261Asp)
c.134C>A (p.Ala45Asp)
c.521C>A (p.Ala174Asp)
9g.124500179C>ACA199728653NR5A1c.781G>T (p.Ala261Ser)
c.133G>T (p.Ala45Ser)
c.520G>T (p.Ala174Ser)
 dbSNP
9g.124500179C=CA1878468164NR5A1c.781G= (p.Ala261=)
c.133G= (p.Ala45=)
c.520G= (p.Ala174=)
9g.124500179C>GCA374885578NR5A1c.781G>C (p.Ala261Pro)
c.133G>C (p.Ala45Pro)
c.520G>C (p.Ala174Pro)
9g.124500179C>TCA374885582NR5A1c.781G>A (p.Ala261Thr)
c.133G>A (p.Ala45Thr)
c.520G>A (p.Ala174Thr)
9g.124500180C>ACA467208026NR5A1c.780G>T (p.Ala260=)
c.132G>T (p.Ala44=)
c.519G>T (p.Ala173=)
9g.124500180C=CA1878468168NR5A1c.780G= (p.Ala260=)
c.132G= (p.Ala44=)
c.519G= (p.Ala173=)
9g.124500180C>GCA467208028NR5A1c.780G>C (p.Ala260=)
c.132G>C (p.Ala44=)
c.519G>C (p.Ala173=)
9g.124500180C>TCA5235398NR5A1c.780G>A (p.Ala260=)
c.132G>A (p.Ala44=)
c.519G>A (p.Ala173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500181G>ACA374885588NR5A1c.779C>T (p.Ala260Val)
c.131C>T (p.Ala44Val)
c.518C>T (p.Ala173Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500181G>CCA374885594NR5A1c.779C>G (p.Ala260Gly)
c.131C>G (p.Ala44Gly)
c.518C>G (p.Ala173Gly)
9g.124500181G=CA1878468171NR5A1c.779C= (p.Ala260=)
c.131C= (p.Ala44=)
c.518C= (p.Ala173=)
9g.124500181G>TCA374885591NR5A1c.779C>A (p.Ala260Glu)
c.131C>A (p.Ala44Glu)
c.518C>A (p.Ala173Glu)
 dbSNP gnomAD v2
9g.124500182C>ACA374885597NR5A1c.778G>T (p.Ala260Ser)
c.130G>T (p.Ala44Ser)
c.517G>T (p.Ala173Ser)
9g.124500182C>GCA374885600NR5A1c.778G>C (p.Ala260Pro)
c.130G>C (p.Ala44Pro)
c.517G>C (p.Ala173Pro)
9g.124500182C>TCA374885603NR5A1c.778G>A (p.Ala260Thr)
c.130G>A (p.Ala44Thr)
c.517G>A (p.Ala173Thr)
 gnomAD v4
9g.124500183C>ACA467208034NR5A1c.777G>T (p.Pro259=)
c.129G>T (p.Pro43=)
c.516G>T (p.Pro172=)
9g.124500183C=CA1878468174NR5A1c.777G= (p.Pro259=)
c.129G= (p.Pro43=)
c.516G= (p.Pro172=)
9g.124500183C>GCA467208035NR5A1c.777G>C (p.Pro259=)
c.129G>C (p.Pro43=)
c.516G>C (p.Pro172=)
9g.124500183C>TCA5235399NR5A1c.777G>A (p.Pro259=)
c.129G>A (p.Pro43=)
c.516G>A (p.Pro172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500184G>ACA5235400NR5A1c.776C>T (p.Pro259Leu)
c.128C>T (p.Pro43Leu)
c.515C>T (p.Pro172Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500184G>CCA374885613NR5A1c.776C>G (p.Pro259Arg)
c.128C>G (p.Pro43Arg)
c.515C>G (p.Pro172Arg)
9g.124500184G=CA1878468180NR5A1c.776C= (p.Pro259=)
c.128C= (p.Pro43=)
c.515C= (p.Pro172=)
9g.124500184G>TCA374885615NR5A1c.776C>A (p.Pro259Gln)
c.128C>A (p.Pro43Gln)
c.515C>A (p.Pro172Gln)
9g.124500185G>ACA374885619NR5A1c.775C>T (p.Pro259Ser)
c.127C>T (p.Pro43Ser)
c.514C>T (p.Pro172Ser)
9g.124500185G>CCA374885621NR5A1c.775C>G (p.Pro259Ala)
c.127C>G (p.Pro43Ala)
c.514C>G (p.Pro172Ala)
9g.124500185G>TCA374885625NR5A1c.775C>A (p.Pro259Thr)
c.127C>A (p.Pro43Thr)
c.514C>A (p.Pro172Thr)
9g.124500186C>ACA374885628NR5A1c.774G>T (p.Gln258His)
c.126G>T (p.Gln42His)
c.513G>T (p.Gln171His)
9g.124500186C>GCA374885631NR5A1c.774G>C (p.Gln258His)
c.126G>C (p.Gln42His)
c.513G>C (p.Gln171His)
9g.124500186C>TCA467208039NR5A1c.774G>A (p.Gln258=)
c.126G>A (p.Gln42=)
c.513G>A (p.Gln171=)
9g.124500187T>ACA374885642NR5A1c.773A>T (p.Gln258Leu)
c.125A>T (p.Gln42Leu)
c.512A>T (p.Gln171Leu)
9g.124500187T>CCA374885636NR5A1c.773A>G (p.Gln258Arg)
c.125A>G (p.Gln42Arg)
c.512A>G (p.Gln171Arg)
9g.124500187T>GCA374885639NR5A1c.773A>C (p.Gln258Pro)
c.125A>C (p.Gln42Pro)
c.512A>C (p.Gln171Pro)
9g.124500188G>ACA374885644NR5A1c.772C>T (p.Gln258Ter)
c.124C>T (p.Gln42Ter)
c.511C>T (p.Gln171Ter)
9g.124500188G>CCA374885646NR5A1c.772C>G (p.Gln258Glu)
c.124C>G (p.Gln42Glu)
c.511C>G (p.Gln171Glu)
9g.124500188G>TCA374885649NR5A1c.772C>A (p.Gln258Lys)
c.124C>A (p.Gln42Lys)
c.511C>A (p.Gln171Lys)
9g.124500189G>ACA467208041NR5A1c.771C>T (p.Asp257=)
c.123C>T (p.Asp41=)
c.510C>T (p.Asp170=)
9g.124500189G>CCA5235401NR5A1c.771C>G (p.Asp257Glu)
c.123C>G (p.Asp41Glu)
c.510C>G (p.Asp170Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500189G=CA1878468183NR5A1c.771C= (p.Asp257=)
c.123C= (p.Asp41=)
c.510C= (p.Asp170=)
9g.124500189G>TCA374885654NR5A1c.771C>A (p.Asp257Glu)
c.123C>A (p.Asp41Glu)
c.510C>A (p.Asp170Glu)
9g.124500190T>ACA374885656NR5A1c.770A>T (p.Asp257Val)
c.122A>T (p.Asp41Val)
c.509A>T (p.Asp170Val)
9g.124500190T>CCA374885658NR5A1c.770A>G (p.Asp257Gly)
c.122A>G (p.Asp41Gly)
c.509A>G (p.Asp170Gly)
 gnomAD v4
9g.124500190T>GCA374885660NR5A1c.770A>C (p.Asp257Ala)
c.122A>C (p.Asp41Ala)
c.509A>C (p.Asp170Ala)
9g.124500191C>ACA374885665NR5A1c.769G>T (p.Asp257Tyr)
c.121G>T (p.Asp41Tyr)
c.508G>T (p.Asp170Tyr)
9g.124500191C=CA1878468188NR5A1c.769G= (p.Asp257=)
c.121G= (p.Asp41=)
c.508G= (p.Asp170=)
9g.124500191C>GCA374885667NR5A1c.769G>C (p.Asp257His)
c.121G>C (p.Asp41His)
c.508G>C (p.Asp170His)
9g.124500191C>TCA5235402NR5A1c.769G>A (p.Asp257Asn)
c.121G>A (p.Asp41Asn)
c.508G>A (p.Asp170Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500192G>ACA199728660NR5A1c.768C>T (p.Pro256=)
c.120C>T (p.Pro40=)
c.507C>T (p.Pro169=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500192G>CCA467208045NR5A1c.768C>G (p.Pro256=)
c.120C>G (p.Pro40=)
c.507C>G (p.Pro169=)
9g.124500192G=CA1878468193NR5A1c.768C= (p.Pro256=)
c.120C= (p.Pro40=)
c.507C= (p.Pro169=)
9g.124500192G>TCA467208044NR5A1c.768C>A (p.Pro256=)
c.120C>A (p.Pro40=)
c.507C>A (p.Pro169=)
 gnomAD v4
9g.124500195delCA2695211080NR5A1c.768del (p.Asp257ThrfsTer?)
c.120del (p.Asp41ThrfsTer?)
c.507del (p.Asp170ThrfsTer?)
9g.124500193G>ACA5235403NR5A1c.767C>T (p.Pro256Leu)
c.119C>T (p.Pro40Leu)
c.506C>T (p.Pro169Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500193G>CCA374885673NR5A1c.767C>G (p.Pro256Arg)
c.119C>G (p.Pro40Arg)
c.506C>G (p.Pro169Arg)
9g.124500193G=CA1878468200NR5A1c.767C= (p.Pro256=)
c.119C= (p.Pro40=)
c.506C= (p.Pro169=)
9g.124500193G>TCA199728661NR5A1c.767C>A (p.Pro256His)
c.119C>A (p.Pro40His)
c.506C>A (p.Pro169His)
 dbSNP gnomAD v4
9g.124500194G>ACA374885678NR5A1c.766C>T (p.Pro256Ser)
c.118C>T (p.Pro40Ser)
c.505C>T (p.Pro169Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.124500194G>CCA374885684NR5A1c.766C>G (p.Pro256Ala)
c.118C>G (p.Pro40Ala)
c.505C>G (p.Pro169Ala)
9g.124500194G=CA1878468202NR5A1c.766C= (p.Pro256=)
c.118C= (p.Pro40=)
c.505C= (p.Pro169=)
9g.124500194G>TCA374885680NR5A1c.766C>A (p.Pro256Thr)
c.118C>A (p.Pro40Thr)
c.505C>A (p.Pro169Thr)
 dbSNP gnomAD v4
9g.124500195G>ACA5235404NR5A1c.765C>T (p.Arg255=)
c.117C>T (p.Arg39=)
c.504C>T (p.Arg168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500195G>CCA467208049NR5A1c.765C>G (p.Arg255=)
c.117C>G (p.Arg39=)
c.504C>G (p.Arg168=)
9g.124500195G=CA1878468216NR5A1c.765C= (p.Arg255=)
c.117C= (p.Arg39=)
c.504C= (p.Arg168=)
9g.124500195G>TCA467208050NR5A1c.765C>A (p.Arg255=)
c.117C>A (p.Arg39=)
c.504C>A (p.Arg168=)
9g.124500196C>ACA122710NR5A1c.764G>T (p.Arg255Leu)
c.116G>T (p.Arg39Leu)
c.503G>T (p.Arg168Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.124500196C=CA1878468222NR5A1c.764G= (p.Arg255=)
c.116G= (p.Arg39=)
c.503G= (p.Arg168=)
9g.124500196C>GCA374885690NR5A1c.764G>C (p.Arg255Pro)
c.116G>C (p.Arg39Pro)
c.503G>C (p.Arg168Pro)
9g.124500196C>TCA199728689NR5A1c.764G>A (p.Arg255His)
c.116G>A (p.Arg39His)
c.503G>A (p.Arg168His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500196_124500197insCTTTGGTGCA2695211081NR5A1c.763_764insCACCAAAG (p.Arg255ProfsTer?)
c.115_116insCACCAAAG (p.Arg39ProfsTer?)
c.502_503insCACCAAAG (p.Arg168ProfsTer?)
9g.124500197G>ACA5235405NR5A1c.763C>T (p.Arg255Cys)
c.115C>T (p.Arg39Cys)
c.502C>T (p.Arg168Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.124500197G>CCA374885693NR5A1c.763C>G (p.Arg255Gly)
c.115C>G (p.Arg39Gly)
c.502C>G (p.Arg168Gly)
9g.124500197G=CA1878468230NR5A1c.763C= (p.Arg255=)
c.115C= (p.Arg39=)
c.502C= (p.Arg168=)
9g.124500197G>TCA374885698NR5A1c.763C>A (p.Arg255Ser)
c.115C>A (p.Arg39Ser)
c.502C>A (p.Arg168Ser)
9g.124500198G>ACA467208052NR5A1c.762C>T (p.Ser254=)
c.114C>T (p.Ser38=)
c.501C>T (p.Ser167=)
9g.124500198G>CCA374885701NR5A1c.762C>G (p.Ser254Arg)
c.114C>G (p.Ser38Arg)
c.501C>G (p.Ser167Arg)
9g.124500198G>TCA374885702NR5A1c.762C>A (p.Ser254Arg)
c.114C>A (p.Ser38Arg)
c.501C>A (p.Ser167Arg)
 gnomAD v4
9g.124500199C>ACA374885703NR5A1c.761G>T (p.Ser254Ile)
c.113G>T (p.Ser38Ile)
c.500G>T (p.Ser167Ile)
9g.124500199C>GCA374885706NR5A1c.761G>C (p.Ser254Thr)
c.113G>C (p.Ser38Thr)
c.500G>C (p.Ser167Thr)
 dbSNP
9g.124500199C>TCA374885707NR5A1c.761G>A (p.Ser254Asn)
c.113G>A (p.Ser38Asn)
c.500G>A (p.Ser167Asn)
9g.124500200T>ACA374885713NR5A1c.760A>T (p.Ser254Cys)
c.112A>T (p.Ser38Cys)
c.499A>T (p.Ser167Cys)
9g.124500200T>CCA374885708NR5A1c.760A>G (p.Ser254Gly)
c.112A>G (p.Ser38Gly)
c.499A>G (p.Ser167Gly)
9g.124500200T>GCA374885710NR5A1c.760A>C (p.Ser254Arg)
c.112A>C (p.Ser38Arg)
c.499A>C (p.Ser167Arg)
9g.124500201T>ACA374885715NR5A1c.759A>T (p.Lys253Asn)
c.111A>T (p.Lys37Asn)
c.498A>T (p.Lys166Asn)
9g.124500201T>CCA467208056NR5A1c.759A>G (p.Lys253=)
c.111A>G (p.Lys37=)
c.498A>G (p.Lys166=)
9g.124500201T>GCA374885717NR5A1c.759A>C (p.Lys253Asn)
c.111A>C (p.Lys37Asn)
c.498A>C (p.Lys166Asn)
9g.124500202T>ACA374885721NR5A1c.758A>T (p.Lys253Ile)
c.110A>T (p.Lys37Ile)
c.497A>T (p.Lys166Ile)
9g.124500202T>CCA374885722NR5A1c.758A>G (p.Lys253Arg)
c.110A>G (p.Lys37Arg)
c.497A>G (p.Lys166Arg)
9g.124500202T>GCA374885726NR5A1c.758A>C (p.Lys253Thr)
c.110A>C (p.Lys37Thr)
c.497A>C (p.Lys166Thr)
9g.124500203T>ACA374885733NR5A1c.757A>T (p.Lys253Ter)
c.109A>T (p.Lys37Ter)
c.496A>T (p.Lys166Ter)
9g.124500203T>CCA374885736NR5A1c.757A>G (p.Lys253Glu)
c.109A>G (p.Lys37Glu)
c.496A>G (p.Lys166Glu)
 dbSNP gnomAD v2
9g.124500203T>GCA374885741NR5A1c.757A>C (p.Lys253Gln)
c.109A>C (p.Lys37Gln)
c.496A>C (p.Lys166Gln)
9g.124500203T=CA1878468235NR5A1c.757A= (p.Lys253=)
c.109A= (p.Lys37=)
c.496A= (p.Lys166=)
9g.124500204G>ACA467208061NR5A1c.756C>T (p.Thr252=)
c.108C>T (p.Thr36=)
c.495C>T (p.Thr165=)
 dbSNP
9g.124500204G>CCA467208063NR5A1c.756C>G (p.Thr252=)
c.108C>G (p.Thr36=)
c.495C>G (p.Thr165=)
9g.124500204G>TCA467208064NR5A1c.756C>A (p.Thr252=)
c.108C>A (p.Thr36=)
c.495C>A (p.Thr165=)
9g.124500205G>ACA374885746NR5A1c.755C>T (p.Thr252Ile)
c.107C>T (p.Thr36Ile)
c.494C>T (p.Thr165Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500205G>CCA374885750NR5A1c.755C>G (p.Thr252Ser)
c.107C>G (p.Thr36Ser)
c.494C>G (p.Thr165Ser)
 gnomAD v4
9g.124500205G=CA1878468241NR5A1c.755C= (p.Thr252=)
c.107C= (p.Thr36=)
c.494C= (p.Thr165=)
9g.124500205G>TCA374885754NR5A1c.755C>A (p.Thr252Asn)
c.107C>A (p.Thr36Asn)
c.494C>A (p.Thr165Asn)
9g.124500206T>ACA5235406NR5A1c.754A>T (p.Thr252Ser)
c.106A>T (p.Thr36Ser)
c.493A>T (p.Thr165Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500206T>CCA374885761NR5A1c.754A>G (p.Thr252Ala)
c.106A>G (p.Thr36Ala)
c.493A>G (p.Thr165Ala)
 ClinVar gnomAD v4
9g.124500206T>GCA374885760NR5A1c.754A>C (p.Thr252Pro)
c.106A>C (p.Thr36Pro)
c.493A>C (p.Thr165Pro)
9g.124500206T=CA1878468247NR5A1c.754A= (p.Thr252=)
c.106A= (p.Thr36=)
c.493A= (p.Thr165=)
9g.124500207G>ACA467208066NR5A1c.753C>T (p.Pro251=)
c.105C>T (p.Pro35=)
c.492C>T (p.Pro164=)
 dbSNP gnomAD v2
9g.124500207G>CCA467208067NR5A1c.753C>G (p.Pro251=)
c.105C>G (p.Pro35=)
c.492C>G (p.Pro164=)
9g.124500207G=CA1878468255NR5A1c.753C= (p.Pro251=)
c.105C= (p.Pro35=)
c.492C= (p.Pro164=)
9g.124500207G>TCA467208068NR5A1c.753C>A (p.Pro251=)
c.105C>A (p.Pro35=)
c.492C>A (p.Pro164=)
9g.124500208G>ACA374885762NR5A1c.752C>T (p.Pro251Leu)
c.104C>T (p.Pro35Leu)
c.491C>T (p.Pro164Leu)
9g.124500208G>CCA374885767NR5A1c.752C>G (p.Pro251Arg)
c.104C>G (p.Pro35Arg)
c.491C>G (p.Pro164Arg)
9g.124500208G>TCA374885770NR5A1c.752C>A (p.Pro251His)
c.104C>A (p.Pro35His)
c.491C>A (p.Pro164His)
9g.124500209G>ACA374885782NR5A1c.751C>T (p.Pro251Ser)
c.103C>T (p.Pro35Ser)
c.490C>T (p.Pro164Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.124500209G>CCA374885786NR5A1c.751C>G (p.Pro251Ala)
c.103C>G (p.Pro35Ala)
c.490C>G (p.Pro164Ala)
9g.124500209G=CA1878468257NR5A1c.751C= (p.Pro251=)
c.103C= (p.Pro35=)
c.490C= (p.Pro164=)
9g.124500209G>TCA199728702NR5A1c.751C>A (p.Pro251Thr)
c.103C>A (p.Pro35Thr)
c.490C>A (p.Pro164Thr)
 dbSNP
9g.124500210C>ACA374885792NR5A1c.750G>T (p.Glu250Asp)
c.102G>T (p.Glu34Asp)
c.489G>T (p.Glu163Asp)
9g.124500210C>GCA374885798NR5A1c.750G>C (p.Glu250Asp)
c.102G>C (p.Glu34Asp)
c.489G>C (p.Glu163Asp)
9g.124500210C>TCA467208141NR5A1c.750G>A (p.Glu250=)
c.102G>A (p.Glu34=)
c.489G>A (p.Glu163=)
9g.124500211T>ACA374885801NR5A1c.749A>T (p.Glu250Val)
c.101A>T (p.Glu34Val)
c.488A>T (p.Glu163Val)
9g.124500211T>CCA374885805NR5A1c.749A>G (p.Glu250Gly)
c.101A>G (p.Glu34Gly)
c.488A>G (p.Glu163Gly)
9g.124500211T>GCA374885818NR5A1c.749A>C (p.Glu250Ala)
c.101A>C (p.Glu34Ala)
c.488A>C (p.Glu163Ala)
9g.124500211_124500212insGCA2579449047NR5A1c.748_749insC (p.Glu250AlafsTer?)
c.100_101insC (p.Glu34AlafsTer?)
c.487_488insC (p.Glu163AlafsTer?)
9g.124500212C>ACA374885821NR5A1c.748G>T (p.Glu250Ter)
c.100G>T (p.Glu34Ter)
c.487G>T (p.Glu163Ter)
 gnomAD v4
9g.124500212C>GCA374885826NR5A1c.748G>C (p.Glu250Gln)
c.100G>C (p.Glu34Gln)
c.487G>C (p.Glu163Gln)
9g.124500212C>TCA374885829NR5A1c.748G>A (p.Glu250Lys)
c.100G>A (p.Glu34Lys)
c.487G>A (p.Glu163Lys)
9g.124500213C>ACA374885832NR5A1c.747G>T (p.Gln249His)
c.99G>T (p.Gln33His)
c.486G>T (p.Gln162His)
9g.124500213C>GCA374885834NR5A1c.747G>C (p.Gln249His)
c.99G>C (p.Gln33His)
c.486G>C (p.Gln162His)
9g.124500213C>TCA467208144NR5A1c.747G>A (p.Gln249=)
c.99G>A (p.Gln33=)
c.486G>A (p.Gln162=)
9g.124500214T>ACA374885836NR5A1c.746A>T (p.Gln249Leu)
c.98A>T (p.Gln33Leu)
c.485A>T (p.Gln162Leu)
9g.124500214T>CCA374885838NR5A1c.746A>G (p.Gln249Arg)
c.98A>G (p.Gln33Arg)
c.485A>G (p.Gln162Arg)
 dbSNP gnomAD v4
9g.124500214T>GCA374885840NR5A1c.746A>C (p.Gln249Pro)
c.98A>C (p.Gln33Pro)
c.485A>C (p.Gln162Pro)
9g.124500214T=CA1878468262NR5A1c.746A= (p.Gln249=)
c.98A= (p.Gln33=)
c.485A= (p.Gln162=)
9g.124500215G>ACA374885843NR5A1c.745C>T (p.Gln249Ter)
c.97C>T (p.Gln33Ter)
c.484C>T (p.Gln162Ter)
9g.124500215G>CCA374885845NR5A1c.745C>G (p.Gln249Glu)
c.97C>G (p.Gln33Glu)
c.484C>G (p.Gln162Glu)
9g.124500215G>TCA374885848NR5A1c.745C>A (p.Gln249Lys)
c.97C>A (p.Gln33Lys)
c.484C>A (p.Gln162Lys)
9g.124500216C>ACA467208149NR5A1c.744G>T (p.Leu248=)
c.96G>T (p.Leu32=)
c.483G>T (p.Leu161=)
 gnomAD v4 COSMIC COSMIC
9g.124500216C>GCA467208150NR5A1c.744G>C (p.Leu248=)
c.96G>C (p.Leu32=)
c.483G>C (p.Leu161=)
9g.124500216C>TCA467208151NR5A1c.744G>A (p.Leu248=)
c.96G>A (p.Leu32=)
c.483G>A (p.Leu161=)
9g.124500217A>CCA374885856NR5A1c.743T>G (p.Leu248Arg)
c.95T>G (p.Leu32Arg)
c.482T>G (p.Leu161Arg)
9g.124500217A>GCA374885858NR5A1c.743T>C (p.Leu248Pro)
c.95T>C (p.Leu32Pro)
c.482T>C (p.Leu161Pro)
 dbSNP
9g.124500217A>TCA374885861NR5A1c.743T>A (p.Leu248Gln)
c.95T>A (p.Leu32Gln)
c.482T>A (p.Leu161Gln)
9g.124500218G>ACA467208154NR5A1c.742C>T (p.Leu248=)
c.94C>T (p.Leu32=)
c.481C>T (p.Leu161=)
9g.124500218G>CCA374885863NR5A1c.742C>G (p.Leu248Val)
c.94C>G (p.Leu32Val)
c.481C>G (p.Leu161Val)
9g.124500218G>TCA374885865NR5A1c.742C>A (p.Leu248Met)
c.94C>A (p.Leu32Met)
c.481C>A (p.Leu161Met)
9g.124500219G>ACA467208155NR5A1c.741C>T (p.Cys247=)
c.93C>T (p.Cys31=)
c.480C>T (p.Cys160=)
9g.124500219G>CCA374885869NR5A1c.741C>G (p.Cys247Trp)
c.93C>G (p.Cys31Trp)
c.480C>G (p.Cys160Trp)
9g.124500219G>TCA374885871NR5A1c.741C>A (p.Cys247Ter)
c.93C>A (p.Cys31Ter)
c.480C>A (p.Cys160Ter)
9g.124500220delCA2579449048NR5A1c.740del (p.Cys247SerfsTer?)
c.92del (p.Cys31SerfsTer?)
c.479del (p.Cys160SerfsTer?)
9g.124500220C>ACA374885886NR5A1c.740G>T (p.Cys247Phe)
c.92G>T (p.Cys31Phe)
c.479G>T (p.Cys160Phe)
9g.124500220C>GCA374885889NR5A1c.740G>C (p.Cys247Ser)
c.92G>C (p.Cys31Ser)
c.479G>C (p.Cys160Ser)
9g.124500220C>TCA374885874NR5A1c.740G>A (p.Cys247Tyr)
c.92G>A (p.Cys31Tyr)
c.479G>A (p.Cys160Tyr)
9g.124500221A=CA1878468265NR5A1c.739T= (p.Cys247=)
c.91T= (p.Cys31=)
c.478T= (p.Cys160=)
9g.124500221A>CCA374885893NR5A1c.739T>G (p.Cys247Gly)
c.91T>G (p.Cys31Gly)
c.478T>G (p.Cys160Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.124500221A>GCA374885894NR5A1c.739T>C (p.Cys247Arg)
c.91T>C (p.Cys31Arg)
c.478T>C (p.Cys160Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500221A>TCA374885897NR5A1c.739T>A (p.Cys247Ser)
c.91T>A (p.Cys31Ser)
c.478T>A (p.Cys160Ser)
9g.124500222G>ACA467208161NR5A1c.738C>T (p.Gly246=)
c.90C>T (p.Gly30=)
c.477C>T (p.Gly159=)
 gnomAD v4
9g.124500222G>CCA467208164NR5A1c.738C>G (p.Gly246=)
c.90C>G (p.Gly30=)
c.477C>G (p.Gly159=)
9g.124500222G>TCA467208163NR5A1c.738C>A (p.Gly246=)
c.90C>A (p.Gly30=)
c.477C>A (p.Gly159=)
9g.124500223C>ACA374885900NR5A1c.737G>T (p.Gly246Val)
c.89G>T (p.Gly30Val)
c.476G>T (p.Gly159Val)
9g.124500223C=CA1878468271NR5A1c.737G= (p.Gly246=)
c.89G= (p.Gly30=)
c.476G= (p.Gly159=)
9g.124500223C>GCA374885903NR5A1c.737G>C (p.Gly246Ala)
c.89G>C (p.Gly30Ala)
c.476G>C (p.Gly159Ala)
9g.124500223C>TCA5235407NR5A1c.737G>A (p.Gly246Asp)
c.89G>A (p.Gly30Asp)
c.476G>A (p.Gly159Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500224C>ACA374885907NR5A1c.736G>T (p.Gly246Cys)
c.88G>T (p.Gly30Cys)
c.475G>T (p.Gly159Cys)
9g.124500224C=CA1878468278NR5A1c.736G= (p.Gly246=)
c.88G= (p.Gly30=)
c.475G= (p.Gly159=)
9g.124500224C>GCA374885908NR5A1c.736G>C (p.Gly246Arg)
c.88G>C (p.Gly30Arg)
c.475G>C (p.Gly159Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.124500224C>TCA374885911NR5A1c.736G>A (p.Gly246Ser)
c.88G>A (p.Gly30Ser)
c.475G>A (p.Gly159Ser)
9g.124500225C>ACA374885916NR5A1c.735G>T (p.Leu245Phe)
c.87G>T (p.Leu29Phe)
c.474G>T (p.Leu158Phe)
9g.124500225C>GCA374885919NR5A1c.735G>C (p.Leu245Phe)
c.87G>C (p.Leu29Phe)
c.474G>C (p.Leu158Phe)
9g.124500225C>TCA467208166NR5A1c.735G>A (p.Leu245=)
c.87G>A (p.Leu29=)
c.474G>A (p.Leu158=)
9g.124500226A=CA1878468282NR5A1c.734T= (p.Leu245=)
c.86T= (p.Leu29=)
c.473T= (p.Leu158=)
9g.124500226A>CCA374885921NR5A1c.734T>G (p.Leu245Trp)
c.86T>G (p.Leu29Trp)
c.473T>G (p.Leu158Trp)
9g.124500226A>GCA374885924NR5A1c.734T>C (p.Leu245Ser)
c.86T>C (p.Leu29Ser)
c.473T>C (p.Leu158Ser)
 dbSNP
9g.124500226A>TCA374885927NR5A1c.734T>A (p.Leu245Ter)
c.86T>A (p.Leu29Ter)
c.473T>A (p.Leu158Ter)
 COSMIC COSMIC
9g.124500227A>CCA374885931NR5A1c.733T>G (p.Leu245Val)
c.85T>G (p.Leu29Val)
c.472T>G (p.Leu158Val)
9g.124500227A>GCA467208168NR5A1c.733T>C (p.Leu245=)
c.85T>C (p.Leu29=)
c.472T>C (p.Leu158=)
9g.124500227A>TCA374885930NR5A1c.733T>A (p.Leu245Met)
c.85T>A (p.Leu29Met)
c.472T>A (p.Leu158Met)
9g.124500228G>ACA467208169NR5A1c.732C>T (p.Ile244=)
c.84C>T (p.Ile28=)
c.471C>T (p.Ile157=)
9g.124500228G>CCA374885934NR5A1c.732C>G (p.Ile244Met)
c.84C>G (p.Ile28Met)
c.471C>G (p.Ile157Met)
9g.124500228G>TCA467208170NR5A1c.732C>A (p.Ile244=)
c.84C>A (p.Ile28=)
c.471C>A (p.Ile157=)
 COSMIC COSMIC
9g.124500229_124500233dupCA2695211082NR5A1c.728_732dup (p.Leu245AlafsTer?)
c.80_84dup (p.Leu29AlafsTer?)
c.467_471dup (p.Leu158AlafsTer?)
9g.124500229A>CCA374885938NR5A1c.731T>G (p.Ile244Ser)
c.83T>G (p.Ile28Ser)
c.470T>G (p.Ile157Ser)
9g.124500229A>GCA374885940NR5A1c.731T>C (p.Ile244Thr)
c.83T>C (p.Ile28Thr)
c.470T>C (p.Ile157Thr)
9g.124500229A>TCA374885942NR5A1c.731T>A (p.Ile244Asn)
c.83T>A (p.Ile28Asn)
c.470T>A (p.Ile157Asn)
9g.124500230T>ACA374885947NR5A1c.730A>T (p.Ile244Phe)
c.82A>T (p.Ile28Phe)
c.469A>T (p.Ile157Phe)
9g.124500230T>CCA374885949NR5A1c.730A>G (p.Ile244Val)
c.82A>G (p.Ile28Val)
c.469A>G (p.Ile157Val)
 gnomAD v4
9g.124500230T>GCA374885952NR5A1c.730A>C (p.Ile244Leu)
c.82A>C (p.Ile28Leu)
c.469A>C (p.Ile157Leu)
 dbSNP
9g.124500230T=CA1878468286NR5A1c.730A= (p.Ile244=)
c.82A= (p.Ile28=)
c.469A= (p.Ile157=)

Number of alleles fetched