Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102854491_102855291delCA658656325PAHc.553_706+647del
c.538_691+647del
c.553_*296del
ClinVar
12g.102854490_102855289delinsATAGGTAAGTACA2580085705PAHc.553_706+646delinsTACTTACCTAT
c.538_691+646delinsTACTTACCTAT
c.553_*295delinsTACTTACCTAT
ClinVar
12g.102855155_102855353delinsTGGCA2573147930PAHc.510-21_687delinsCCA
c.495-21_672delinsCCA
n.606-21_783delinsCCA
ClinVar dbSNP
12g.102855177_102855353delCA16020833PAHc.510-19_667del
c.495-19_652del
n.606-19_763del
12g.102855282delCA229630PAHc.563del (p.Gly188AlafsTer7)
c.548del (p.Gly183AlafsTer7)
n.659del
n.584del
ClinVar dbSNP
12g.102855281C>ACA386296845PAHc.561G>T (p.Trp187Cys)
c.546G>T (p.Trp182Cys)
n.657G>T
n.582G>T
12g.102855281C=CA2059449667PAHc.561G= (p.Trp187=)
c.546G= (p.Trp182=)
n.657G=
n.582G=
12g.102855281C>GCA229626PAHc.561G>C (p.Trp187Cys)
c.546G>C (p.Trp182Cys)
n.657G>C
n.582G>C
ClinVar dbSNP
12g.102855281C>TCA229624PAHc.561G>A (p.Trp187Ter)
c.546G>A (p.Trp182Ter)
n.657G>A
n.582G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102855282C>ACA386296850PAHc.560G>T (p.Trp187Leu)
c.545G>T (p.Trp182Leu)
n.656G>T
n.581G>T
12g.102855282C>GCA386296852PAHc.560G>C (p.Trp187Ser)
c.545G>C (p.Trp182Ser)
n.656G>C
n.581G>C
12g.102855282C>TCA16020817PAHc.560G>A (p.Trp187Ter)
c.545G>A (p.Trp182Ter)
n.656G>A
n.581G>A
12g.102855282_102855284delinsCATCA2059449676PAHc.558_560delinsATG (p.Thr186=)
c.543_545delinsATG (p.Thr181=)
n.654_656delinsATG
n.579_581delinsATG
12g.102855283A=CA2059449687PAHc.559T= (p.Trp187=)
c.544T= (p.Trp182=)
n.655T=
n.580T=
12g.102855283A>CCA386296858PAHc.559T>G (p.Trp187Gly)
c.544T>G (p.Trp182Gly)
n.655T>G
n.580T>G
12g.102855283A>GCA229622PAHc.559T>C (p.Trp187Arg)
c.544T>C (p.Trp182Arg)
n.655T>C
n.580T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102855283A>TCA386296857PAHc.559T>A (p.Trp187Arg)
c.544T>A (p.Trp182Arg)
n.655T>A
n.580T>A
12g.102855283_102855284delCA229621PAHc.558_559del (p.Trp187GlyfsTer12)
c.543_544del (p.Trp182GlyfsTer12)
n.654_655del
n.579_580del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855284delCA16020816PAHc.558del (p.Trp187GlyfsTer8)
c.543del (p.Trp182GlyfsTer8)
n.654del
n.579del
12g.102855284T>ACA481578598PAHc.558A>T (p.Thr186=)
c.543A>T (p.Thr181=)
n.654A>T
n.579A>T
gnomAD v4
12g.102855284T>CCA481578599PAHc.558A>G (p.Thr186=)
c.543A>G (p.Thr181=)
n.654A>G
n.579A>G
12g.102855284T>GCA481578600PAHc.558A>C (p.Thr186=)
c.543A>C (p.Thr181=)
n.654A>C
n.579A>C
12g.102855285G>ACA386296861PAHc.557C>T (p.Thr186Ile)
c.542C>T (p.Thr181Ile)
n.653C>T
n.578C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102855285G>CCA386296863PAHc.557C>G (p.Thr186Arg)
c.542C>G (p.Thr181Arg)
n.653C>G
n.578C>G
gnomAD v4
12g.102855285G=CA2059449692PAHc.557C= (p.Thr186=)
c.542C= (p.Thr181=)
n.653C=
n.578C=
12g.102855285G>TCA386296865PAHc.557C>A (p.Thr186Lys)
c.542C>A (p.Thr181Lys)
n.653C>A
n.578C>A
12g.102855285_102855286delinsGTCA2059449689PAHc.556_557delinsAC (p.Thr186=)
c.541_542delinsAC (p.Thr181=)
n.652_653delinsAC
n.577_578delinsAC
12g.102855286T>ACA386296868PAHc.556A>T (p.Thr186Ser)
c.541A>T (p.Thr181Ser)
n.652A>T
n.577A>T
12g.102855286T>CCA386296870PAHc.556A>G (p.Thr186Ala)
c.541A>G (p.Thr181Ala)
n.652A>G
n.577A>G
ClinVar
12g.102855286T>GCA386296871PAHc.556A>C (p.Thr186Pro)
c.541A>C (p.Thr181Pro)
n.652A>C
n.577A>C
COSMIC
12g.102855289delCA229620PAHc.556del (p.Thr186HisfsTer9)
c.541del (p.Thr181HisfsTer9)
n.652del
n.577del
ClinVar dbSNP
12g.102855287T>ACA386296874PAHc.555A>T (p.Lys185Asn)
c.540A>T (p.Lys180Asn)
n.651A>T
n.576A>T
12g.102855287T>CCA481578602PAHc.555A>G (p.Lys185=)
c.540A>G (p.Lys180=)
n.651A>G
n.576A>G
12g.102855287T>GCA386296876PAHc.555A>C (p.Lys185Asn)
c.540A>C (p.Lys180Asn)
n.651A>C
n.576A>C
12g.102855288T>ACA386296879PAHc.554A>T (p.Lys185Ile)
c.539A>T (p.Lys180Ile)
n.650A>T
n.575A>T
12g.102855288T>CCA386296880PAHc.554A>G (p.Lys185Arg)
c.539A>G (p.Lys180Arg)
n.650A>G
n.575A>G
12g.102855288T>GCA386296882PAHc.554A>C (p.Lys185Thr)
c.539A>C (p.Lys180Thr)
n.650A>C
n.575A>C
12g.102855290_102855292delCA2697551521PAHc.552_554del (p.Lys185del)
c.537_539del (p.Lys180del)
n.648_650del
n.573_575del
12g.102855289T>ACA386296885PAHc.553A>T (p.Lys185Ter)
c.538A>T (p.Lys180Ter)
n.649A>T
n.574A>T
12g.102855289T>CCA386296889PAHc.553A>G (p.Lys185Glu)
c.538A>G (p.Lys180Glu)
n.649A>G
n.574A>G
gnomAD v4
12g.102855289T>GCA386296887PAHc.553A>C (p.Lys185Gln)
c.538A>C (p.Lys180Gln)
n.649A>C
n.574A>C
12g.102855290C>ACA386296891PAHc.552G>T (p.Lys184Asn)
c.537G>T (p.Lys179Asn)
n.648G>T
n.573G>T
12g.102855290C>GCA386296893PAHc.552G>C (p.Lys184Asn)
c.537G>C (p.Lys179Asn)
n.648G>C
n.573G>C
12g.102855290C>TCA481578605PAHc.552G>A (p.Lys184=)
c.537G>A (p.Lys179=)
n.648G>A
n.573G>A
12g.102855290_102855291delinsCTCA2059449698PAHc.551_552delinsAG (p.Lys184=)
c.536_537delinsAG (p.Lys179=)
n.647_648delinsAG
n.572_573delinsAG
12g.102855291T>ACA386296895PAHc.551A>T (p.Lys184Met)
c.536A>T (p.Lys179Met)
n.647A>T
n.572A>T
12g.102855291T>CCA386296896PAHc.551A>G (p.Lys184Arg)
c.536A>G (p.Lys179Arg)
n.647A>G
n.572A>G
12g.102855291T>GCA386296899PAHc.551A>C (p.Lys184Thr)
c.536A>C (p.Lys179Thr)
n.647A>C
n.572A>C
12g.102855294delCA16020815PAHc.551del (p.Lys184ArgfsTer11)
c.536del (p.Lys179ArgfsTer11)
n.647del
n.572del
ClinVar dbSNP gnomAD v4

Number of alleles fetched