Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.71811723A=CA2186513697NR2E3c.246-43A= (n.246-43A=)
c.-19-43A= (n.-19-43A=)
15g.71811723A>CCA7640263NR2E3c.246-43A>C (n.246-43A>C)
c.-19-43A>C (n.-19-43A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811724T>CCA914025738NR2E3c.246-42T>C (n.246-42T>C)
c.-19-42T>C (n.-19-42T>C)
 gnomAD v2 gnomAD v4
15g.71811724_71811728delinsTGGGACA2186513698NR2E3c.246-42_246-38delinsTGGGA (n.246-42_246-38delinsTGGGA)
c.-19-42_-19-38delinsTGGGA (n.-19-42_-19-38delinsTGGGA)
15g.71811725G>TCA2804685735NR2E3c.246-41G>T (n.246-41G>T)
c.-19-41G>T (n.-19-41G>T)
15g.71811729_71811732delCA7640264NR2E3c.246-37_246-34del (n.246-37_246-34del)
c.-19-37_-19-34del (n.-19-37_-19-34del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811726G>ACA618960658NR2E3c.246-40G>A (n.246-40G>A)
c.-19-40G>A (n.-19-40G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.71811726G=CA2186513699NR2E3c.246-40G= (n.246-40G=)
c.-19-40G= (n.-19-40G=)
15g.71811727G>ACA2629291634NR2E3c.246-39G>A (n.246-39G>A)
c.-19-39G>A (n.-19-39G>A)
 gnomAD v4
15g.71811727G=CA2186513700NR2E3c.246-39G= (n.246-39G=)
c.-19-39G= (n.-19-39G=)
15g.71811727G>TCA7640265NR2E3c.246-39G>T (n.246-39G>T)
c.-19-39G>T (n.-19-39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811728dupCA272574934NR2E3c.246-38dup (n.246-38dup)
c.-19-38dup (n.-19-38dup)
 dbSNP
15g.71811729G>ACA2629291635NR2E3c.246-37G>A (n.246-37G>A)
c.-19-37G>A (n.-19-37G>A)
 gnomAD v4
15g.71811729G>CCA618960659NR2E3c.246-37G>C (n.246-37G>C)
c.-19-37G>C (n.-19-37G>C)
 dbSNP gnomAD v2 gnomAD v4
15g.71811729G=CA2186513701NR2E3c.246-37G= (n.246-37G=)
c.-19-37G= (n.-19-37G=)
15g.71811730G>ACA272574943NR2E3c.246-36G>A (n.246-36G>A)
c.-19-36G>A (n.-19-36G>A)
 dbSNP gnomAD v4
15g.71811730G>CCA715428949NR2E3c.246-36G>C (n.246-36G>C)
c.-19-36G>C (n.-19-36G>C)
 dbSNP gnomAD v3 gnomAD v4
15g.71811730G=CA2186513702NR2E3c.246-36G= (n.246-36G=)
c.-19-36G= (n.-19-36G=)
15g.71811730G>TCA2629291636NR2E3c.246-36G>T (n.246-36G>T)
c.-19-36G>T (n.-19-36G>T)
 gnomAD v4
15g.71811735C>ACA2629291637NR2E3c.246-31C>A (n.246-31C>A)
c.-19-31C>A (n.-19-31C>A)
 gnomAD v4
15g.71811736T>CCA2629291638NR2E3c.246-30T>C (n.246-30T>C)
c.-19-30T>C (n.-19-30T>C)
 gnomAD v4
15g.71811737G>ACA2629291639NR2E3c.246-29G>A (n.246-29G>A)
c.-19-29G>A (n.-19-29G>A)
 gnomAD v4
15g.71811738A=CA2186513703NR2E3c.246-28A= (n.246-28A=)
c.-19-28A= (n.-19-28A=)
15g.71811738A>CCA618960660NR2E3c.246-28A>C (n.246-28A>C)
c.-19-28A>C (n.-19-28A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811738A>GCA2804685736NR2E3c.246-28A>G (n.246-28A>G)
c.-19-28A>G (n.-19-28A>G)
15g.71811739C>ACA2186513705NR2E3c.246-27C>A (n.246-27C>A)
c.-19-27C>A (n.-19-27C>A)
 dbSNP gnomAD v4
15g.71811739C=CA2186513704NR2E3c.246-27C= (n.246-27C=)
c.-19-27C= (n.-19-27C=)
15g.71811739C>TCA715428963NR2E3c.246-27C>T (n.246-27C>T)
c.-19-27C>T (n.-19-27C>T)
 dbSNP gnomAD v4
15g.71811742dupCA2629291640NR2E3c.246-24dup (n.246-24dup)
c.-19-24dup (n.-19-24dup)
 gnomAD v4
15g.71811740C>ACA2575777612NR2E3c.246-26C>A (n.246-26C>A)
c.-19-26C>A (n.-19-26C>A)
15g.71811740C=CA2186513706NR2E3c.246-26C= (n.246-26C=)
c.-19-26C= (n.-19-26C=)
15g.71811740C>GCA971286662NR2E3c.246-26C>G (n.246-26C>G)
c.-19-26C>G (n.-19-26C>G)
 dbSNP gnomAD v3 gnomAD v4
15g.71811740C>TCA7640266NR2E3c.246-26C>T (n.246-26C>T)
c.-19-26C>T (n.-19-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811741C>GCA2575777613NR2E3c.246-25C>G (n.246-25C>G)
c.-19-25C>G (n.-19-25C>G)
 gnomAD v4
15g.71811741C>TCA2629291641NR2E3c.246-25C>T (n.246-25C>T)
c.-19-25C>T (n.-19-25C>T)
 gnomAD v4
15g.71811742C=CA2186513707NR2E3c.246-24C= (n.246-24C=)
c.-19-24C= (n.-19-24C=)
15g.71811742C>GCA272574948NR2E3c.246-24C>G (n.246-24C>G)
c.-19-24C>G (n.-19-24C>G)
 dbSNP gnomAD v3 gnomAD v4
15g.71811744G>ACA2629291643NR2E3c.246-22G>A (n.246-22G>A)
c.-19-22G>A (n.-19-22G>A)
 gnomAD v4
15g.71811744G>TCA2629291642NR2E3c.246-22G>T (n.246-22G>T)
c.-19-22G>T (n.-19-22G>T)
 gnomAD v4
15g.71811745G>CCA2629291644NR2E3c.246-21G>C (n.246-21G>C)
c.-19-21G>C (n.-19-21G>C)
 gnomAD v4
15g.71811746G>TCA2629291645NR2E3c.246-20G>T (n.246-20G>T)
c.-19-20G>T (n.-19-20G>T)
 ClinVar gnomAD v4
15g.71811747G=CA2186513708NR2E3c.246-19G= (n.246-19G=)
c.-19-19G= (n.-19-19G=)
15g.71811747G>TCA7640267NR2E3c.246-19G>T (n.246-19G>T)
c.-19-19G>T (n.-19-19G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811748T>CCA618960661NR2E3c.246-18T>C (n.246-18T>C)
c.-19-18T>C (n.-19-18T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.71811748T=CA2186513710NR2E3c.246-18T= (n.246-18T=)
c.-19-18T= (n.-19-18T=)
15g.71811748_71811751delinsTCTCCA2186513709NR2E3c.246-18_246-15delinsTCTC (n.246-18_246-15delinsTCTC)
c.-19-18_-19-15delinsTCTC (n.-19-18_-19-15delinsTCTC)
15g.71811749C>TCA2629291647NR2E3c.246-17C>T (n.246-17C>T)
c.-19-17C>T (n.-19-17C>T)
 gnomAD v4
15g.71811752_71811754delCA618960662NR2E3c.246-14_246-12del (n.246-14_246-12del)
c.-19-14_-19-12del (n.-19-14_-19-12del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811750T>CCA7640268NR2E3c.246-16T>C (n.246-16T>C)
c.-19-16T>C (n.-19-16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811750T=CA2186513711NR2E3c.246-16T= (n.246-16T=)
c.-19-16T= (n.-19-16T=)
15g.71811750_71811751delinsTCCA2186513712NR2E3c.246-16_246-15delinsTC (n.246-16_246-15delinsTC)
c.-19-16_-19-15delinsTC (n.-19-16_-19-15delinsTC)
15g.71811751C=CA2186513713NR2E3c.246-15C= (n.246-15C=)
c.-19-15C= (n.-19-15C=)
15g.71811751C>TCA7640269NR2E3c.246-15C>T (n.246-15C>T)
c.-19-15C>T (n.-19-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811751_71811752dupCA2575777614NR2E3c.246-15_246-14dup (n.246-15_246-14dup)
c.-19-15_-19-14dup (n.-19-15_-19-14dup)
15g.71811752delCA971286674NR2E3c.246-14del (n.246-14del)
c.-19-14del (n.-19-14del)
 dbSNP gnomAD v3 gnomAD v4
15g.71811752C>ACA2629291648NR2E3c.246-14C>A (n.246-14C>A)
c.-19-14C>A (n.-19-14C>A)
 gnomAD v4
15g.71811752C=CA2186513714NR2E3c.246-14C= (n.246-14C=)
c.-19-14C= (n.-19-14C=)
15g.71811752C>GCA2739269550NR2E3c.246-14C>G (n.246-14C>G)
c.-19-14C>G (n.-19-14C>G)
 ClinVar
15g.71811752C>TCA272574956NR2E3c.246-14C>T (n.246-14C>T)
c.-19-14C>T (n.-19-14C>T)
 dbSNP gnomAD v2
15g.71811753T>CCA2575777615NR2E3c.246-13T>C (n.246-13T>C)
c.-19-13T>C (n.-19-13T>C)
15g.71811754C>ACA2629291649NR2E3c.246-12C>A (n.246-12C>A)
c.-19-12C>A (n.-19-12C>A)
 gnomAD v4
15g.71811756T>CCA2629291650NR2E3c.246-10T>C (n.246-10T>C)
c.-19-10T>C (n.-19-10T>C)
 gnomAD v4
15g.71811757C>ACA2575777616NR2E3c.246-9C>A (n.246-9C>A)
c.-19-9C>A (n.-19-9C>A)
15g.71811757C=CA2186513715NR2E3c.246-9C= (n.246-9C=)
c.-19-9C= (n.-19-9C=)
15g.71811757C>TCA618960663NR2E3c.246-9C>T (n.246-9C>T)
c.-19-9C>T (n.-19-9C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.71811758A>TCA2629291651NR2E3c.246-8A>T (n.246-8A>T)
c.-19-8A>T (n.-19-8A>T)
 gnomAD v4
15g.71811759C>ACA2629291652NR2E3c.246-7C>A (n.246-7C>A)
c.-19-7C>A (n.-19-7C>A)
 gnomAD v4
15g.71811759C>GCA2629291653NR2E3c.246-7C>G (n.246-7C>G)
c.-19-7C>G (n.-19-7C>G)
 gnomAD v4
15g.71811760C>TCA2629291654NR2E3c.246-6C>T (n.246-6C>T)
c.-19-6C>T (n.-19-6C>T)
 gnomAD v4
15g.71811760_71811761delinsCTCA2186513716NR2E3c.246-6_246-5delinsCT (n.246-6_246-5delinsCT)
c.-19-6_-19-5delinsCT (n.-19-6_-19-5delinsCT)
15g.71811761delCA618960664NR2E3c.246-5del (n.246-5del)
c.-19-5del (n.-19-5del)
 dbSNP gnomAD v2 gnomAD v4
15g.71811761T>ACA2629291655NR2E3c.246-5T>A (n.246-5T>A)
c.-19-5T>A (n.-19-5T>A)
 gnomAD v4
15g.71811761T>CCA2629291656NR2E3c.246-5T>C (n.246-5T>C)
c.-19-5T>C (n.-19-5T>C)
 gnomAD v4
15g.71811761T>GCA7640270NR2E3c.246-5T>G (n.246-5T>G)
c.-19-5T>G (n.-19-5T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811761T=CA2186513717NR2E3c.246-5T= (n.246-5T=)
c.-19-5T= (n.-19-5T=)
15g.71811762G>ACA2629291657NR2E3c.246-4G>A (n.246-4G>A)
c.-19-4G>A (n.-19-4G>A)
 gnomAD v4
15g.71811762G=CA2186513718NR2E3c.246-4G= (n.246-4G=)
c.-19-4G= (n.-19-4G=)
15g.71811762G>TCA7640271NR2E3c.246-4G>T (n.246-4G>T)
c.-19-4G>T (n.-19-4G>T)
 dbSNP ExAC gnomAD v4
15g.71811763C>ACA2629291659NR2E3c.246-3C>A (n.246-3C>A)
c.-19-3C>A (n.-19-3C>A)
 gnomAD v4
15g.71811763C>TCA2580089926NR2E3c.246-3C>T (n.246-3C>T)
c.-19-3C>T (n.-19-3C>T)
 ClinVar
15g.71811764A=CA2186513719NR2E3c.246-2A= (n.246-2A=)
c.-19-2A= (n.-19-2A=)
15g.71811764A>CCA393032281NR2E3c.246-2A>C (n.246-2A>C)
c.-19-2A>C (n.-19-2A>C)
15g.71811764A>GCA393032278NR2E3c.246-2A>G (n.246-2A>G)
c.-19-2A>G (n.-19-2A>G)
 gnomAD v4
15g.71811764A>TCA393032280NR2E3c.246-2A>T (n.246-2A>T)
c.-19-2A>T (n.-19-2A>T)
 dbSNP gnomAD v3 gnomAD v4
15g.71811765G>ACA393032283NR2E3c.246-1G>A (n.246-1G>A)
c.-19-1G>A (n.-19-1G>A)
15g.71811765G>CCA393032285NR2E3c.246-1G>C (n.246-1G>C)
c.-19-1G>C (n.-19-1G>C)
 ClinVar gnomAD v4
15g.71811765G=CA2186513720NR2E3c.246-1G= (n.246-1G=)
c.-19-1G= (n.-19-1G=)
15g.71811765G>TCA393032286NR2E3c.246-1G>T (n.246-1G>T)
c.-19-1G>T (n.-19-1G>T)
15g.71811766G>ACA491103516NR2E3c.246G>A (p.Arg82=)
c.-19G>A (n.-19G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.71811766G>CCA393032288NR2E3c.246G>C (p.Arg82Ser)
c.-19G>C (n.-19G>C)
15g.71811766G=CA2186513721NR2E3c.246G= (p.Arg82=)
c.-19G= (n.-19G=)
15g.71811766G>TCA393032290NR2E3c.246G>T (p.Arg82Ser)
c.-19G>T (n.-19G>T)
15g.71811771_71811791dupCA971286691NR2E3c.251_271dup (p.Cys90_Pro91insGlnValGlyAlaGlyMetCys)
c.-14_7dup (p.Cys2_Pro3insGlnValGlyAlaGlyMetCys)
 dbSNP gnomAD v3 gnomAD v4
15g.71811767T>ACA393032295NR2E3c.247T>A (p.Cys83Ser)
c.-18T>A (n.-18T>A)
15g.71811767T>CCA393032292NR2E3c.247T>C (p.Cys83Arg)
c.-18T>C (n.-18T>C)
 gnomAD v4
15g.71811767T>GCA393032293NR2E3c.247T>G (p.Cys83Gly)
c.-18T>G (n.-18T>G)
15g.71811768G>ACA272574961NR2E3c.248G>A (p.Cys83Tyr)
c.-17G>A (n.-17G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811768G>CCA393032298NR2E3c.248G>C (p.Cys83Ser)
c.-17G>C (n.-17G>C)
15g.71811768G=CA2186513722NR2E3c.248G= (p.Cys83=)
c.-17G= (n.-17G=)
15g.71811768G>TCA393032300NR2E3c.248G>T (p.Cys83Phe)
c.-17G>T (n.-17G>T)
 gnomAD v4
15g.71811769C>ACA393032302NR2E3c.249C>A (p.Cys83Ter)
c.-16C>A (n.-16C>A)
 dbSNP gnomAD v2 gnomAD v4
15g.71811769C=CA2186513723NR2E3c.249C= (p.Cys83=)
c.-16C= (n.-16C=)
15g.71811769C>GCA393032304NR2E3c.249C>G (p.Cys83Trp)
c.-16C>G (n.-16C>G)
15g.71811769C>TCA491103517NR2E3c.249C>T (p.Cys83=)
c.-16C>T (n.-16C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.71811770C>ACA393032306NR2E3c.250C>A (p.Gln84Lys)
c.-15C>A (n.-15C>A)
15g.71811770C=CA2186513724NR2E3c.250C= (p.Gln84=)
c.-15C= (n.-15C=)
15g.71811770C>GCA393032307NR2E3c.250C>G (p.Gln84Glu)
c.-15C>G (n.-15C>G)
15g.71811770C>TCA393032308NR2E3c.250C>T (p.Gln84Ter)
c.-15C>T (n.-15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811771A>CCA393032310NR2E3c.251A>C (p.Gln84Pro)
c.-14A>C (n.-14A>C)
15g.71811771A>GCA393032312NR2E3c.251A>G (p.Gln84Arg)
c.-14A>G (n.-14A>G)
 gnomAD v4
15g.71811771A>TCA393032314NR2E3c.251A>T (p.Gln84Leu)
c.-14A>T (n.-14A>T)
15g.71811772G>ACA491103518NR2E3c.252G>A (p.Gln84=)
c.-13G>A (n.-13G>A)
 gnomAD v4
15g.71811772G>CCA393032316NR2E3c.252G>C (p.Gln84His)
c.-13G>C (n.-13G>C)
15g.71811772G>TCA393032318NR2E3c.252G>T (p.Gln84His)
c.-13G>T (n.-13G>T)
 gnomAD v4
15g.71811773G>ACA272574964NR2E3c.253G>A (p.Val85Met)
c.-12G>A (n.-12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811773G>CCA393032323NR2E3c.253G>C (p.Val85Leu)
c.-12G>C (n.-12G>C)
15g.71811773G=CA2186513725NR2E3c.253G= (p.Val85=)
c.-12G= (n.-12G=)
15g.71811773G>TCA272574966NR2E3c.253G>T (p.Val85Leu)
c.-12G>T (n.-12G>T)
 ClinVar dbSNP gnomAD v4
15g.71811774T>ACA393032326NR2E3c.254T>A (p.Val85Glu)
c.-11T>A (n.-11T>A)
15g.71811774T>CCA393032328NR2E3c.254T>C (p.Val85Ala)
c.-11T>C (n.-11T>C)
15g.71811774T>GCA393032330NR2E3c.254T>G (p.Val85Gly)
c.-11T>G (n.-11T>G)
15g.71811774T=CA2186513726NR2E3c.254T= (p.Val85=)
c.-11T= (n.-11T=)
15g.71811775G>ACA7640272NR2E3c.255G>A (p.Val85=)
c.-10G>A (n.-10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811775G>CCA491103519NR2E3c.255G>C (p.Val85=)
c.-10G>C (n.-10G>C)
 ClinVar dbSNP gnomAD v4
15g.71811775G=CA2186513727NR2E3c.255G= (p.Val85=)
c.-10G= (n.-10G=)
15g.71811775G>TCA491103520NR2E3c.255G>T (p.Val85=)
c.-10G>T (n.-10G>T)
 gnomAD v4
15g.71811779dupCA715429023NR2E3c.259dup (p.Ala87GlyfsTer?)
c.-6dup (n.-6dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.71811779delCA2629291704NR2E3c.259del (p.Ala87GlnfsTer19)
c.-6del (n.-6del)
 gnomAD v4
15g.71811778_71811779delCA2741440544NR2E3c.258_259del (p.Ala87ArgfsTer?)
c.-7_-6del (n.-7_-6del)
15g.71811776G>ACA393032333NR2E3c.256G>A (p.Gly86Arg)
c.-9G>A (n.-9G>A)
15g.71811776G>CCA393032335NR2E3c.256G>C (p.Gly86Arg)
c.-9G>C (n.-9G>C)
15g.71811776G>TCA393032337NR2E3c.256G>T (p.Gly86Trp)
c.-9G>T (n.-9G>T)
 gnomAD v4
15g.71811777G>ACA393032339NR2E3c.257G>A (p.Gly86Glu)
c.-8G>A (n.-8G>A)
 dbSNP gnomAD v4
15g.71811777G>CCA393032342NR2E3c.257G>C (p.Gly86Ala)
c.-8G>C (n.-8G>C)
15g.71811777G=CA2186513728NR2E3c.257G= (p.Gly86=)
c.-8G= (n.-8G=)
15g.71811777G>TCA393032343NR2E3c.257G>T (p.Gly86Val)
c.-8G>T (n.-8G>T)
 gnomAD v4
15g.71811778G>ACA491103521NR2E3c.258G>A (p.Gly86=)
c.-7G>A (n.-7G>A)
 gnomAD v4
15g.71811778G>CCA491103522NR2E3c.258G>C (p.Gly86=)
c.-7G>C (n.-7G>C)
15g.71811778G>TCA491103523NR2E3c.258G>T (p.Gly86=)
c.-7G>T (n.-7G>T)
15g.71811779G>ACA393032344NR2E3c.259G>A (p.Ala87Thr)
c.-6G>A (n.-6G>A)
 gnomAD v4
15g.71811779G>CCA393032346NR2E3c.259G>C (p.Ala87Pro)
c.-6G>C (n.-6G>C)
15g.71811779G=CA2186513729NR2E3c.259G= (p.Ala87=)
c.-6G= (n.-6G=)
15g.71811779G>TCA393032348NR2E3c.259G>T (p.Ala87Ser)
c.-6G>T (n.-6G>T)
 dbSNP gnomAD v4
15g.71811780C>ACA393032350NR2E3c.260C>A (p.Ala87Glu)
c.-5C>A (n.-5C>A)
 gnomAD v4
15g.71811780C>GCA393032353NR2E3c.260C>G (p.Ala87Gly)
c.-5C>G (n.-5C>G)
15g.71811780C>TCA393032352NR2E3c.260C>T (p.Ala87Val)
c.-5C>T (n.-5C>T)
15g.71811781A>CCA491103524NR2E3c.261A>C (p.Ala87=)
c.-4A>C (n.-4A>C)
15g.71811781A>GCA491103525NR2E3c.261A>G (p.Ala87=)
c.-4A>G (n.-4A>G)
 gnomAD v4
15g.71811781A>TCA491103526NR2E3c.261A>T (p.Ala87=)
c.-4A>T (n.-4A>T)
15g.71811782G>ACA393032355NR2E3c.262G>A (p.Gly88Arg)
c.-3G>A (n.-3G>A)
15g.71811782G>CCA393032356NR2E3c.262G>C (p.Gly88Arg)
c.-3G>C (n.-3G>C)
15g.71811782G>TCA393032358NR2E3c.262G>T (p.Gly88Trp)
c.-3G>T (n.-3G>T)
 gnomAD v4
15g.71811783G>ACA393032360NR2E3c.263G>A (p.Gly88Glu)
c.-2G>A (n.-2G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.71811783G>CCA393032362NR2E3c.263G>C (p.Gly88Ala)
c.-2G>C (n.-2G>C)
15g.71811783G=CA2186513730NR2E3c.263G= (p.Gly88=)
c.-2G= (n.-2G=)
15g.71811783G>TCA393032364NR2E3c.263G>T (p.Gly88Val)
c.-2G>T (n.-2G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.71811784G>ACA491103527NR2E3c.264G>A (p.Gly88=)
c.-1G>A (n.-1G>A)
15g.71811784G>CCA491103528NR2E3c.264G>C (p.Gly88=)
c.-1G>C (n.-1G>C)
15g.71811784G=CA2186513731NR2E3c.264G= (p.Gly88=)
c.-1G= (n.-1G=)
15g.71811784G>TCA7640273NR2E3c.264G>T (p.Gly88=)
c.-1G>T (n.-1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811785A=CA2186513732NR2E3c.265A= (p.Met89=)
c.1A= (p.Met1=)
15g.71811785A>CCA393032366NR2E3c.265A>C (p.Met89Leu)
c.1A>C (p.Met1Leu)
15g.71811785A>GCA7640274NR2E3c.265A>G (p.Met89Val)
c.1A>G (p.Met1Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811785A>TCA393032367NR2E3c.265A>T (p.Met89Leu)
c.1A>T (p.Met1Leu)
 dbSNP
15g.71811786T>ACA393032372NR2E3c.266T>A (p.Met89Lys)
c.2T>A (p.Met1Lys)
15g.71811786T>CCA393032371NR2E3c.266T>C (p.Met89Thr)
c.2T>C (p.Met1Thr)
15g.71811786T>GCA393032369NR2E3c.266T>G (p.Met89Arg)
c.2T>G (p.Met1Arg)
15g.71811787G>ACA7640275NR2E3c.267G>A (p.Met89Ile)
c.3G>A (p.Met1Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811787G>CCA393032374NR2E3c.267G>C (p.Met89Ile)
c.3G>C (p.Met1Ile)
15g.71811787G=CA2186513733NR2E3c.267G= (p.Met89=)
c.3G= (p.Met1=)
15g.71811787G>TCA393032373NR2E3c.267G>T (p.Met89Ile)
c.3G>T (p.Met1Ile)
 gnomAD v4
15g.71811788T>ACA393032376NR2E3c.268T>A (p.Cys90Ser)
c.4T>A (p.Cys2Ser)
15g.71811788T>CCA393032378NR2E3c.268T>C (p.Cys90Arg)
c.4T>C (p.Cys2Arg)
15g.71811788T>GCA393032380NR2E3c.268T>G (p.Cys90Gly)
c.4T>G (p.Cys2Gly)
15g.71811789G>ACA393032382NR2E3c.269G>A (p.Cys90Tyr)
c.5G>A (p.Cys2Tyr)
 gnomAD v4
15g.71811789G>CCA393032384NR2E3c.269G>C (p.Cys90Ser)
c.5G>C (p.Cys2Ser)
15g.71811789G>TCA393032385NR2E3c.269G>T (p.Cys90Phe)
c.5G>T (p.Cys2Phe)
 gnomAD v4
15g.71811789_71811790delCA2629291766NR2E3c.269_270del (p.Cys90SerfsTer?)
c.5_6del (p.Cys2SerfsTer?)
 gnomAD v4
15g.71811790C>ACA393032388NR2E3c.270C>A (p.Cys90Ter)
c.6C>A (p.Cys2Ter)
 gnomAD v4
15g.71811790C=CA2186513734NR2E3c.270C= (p.Cys90=)
c.6C= (p.Cys2=)
15g.71811790C>GCA393032390NR2E3c.270C>G (p.Cys90Trp)
c.6C>G (p.Cys2Trp)
15g.71811790C>TCA491103529NR2E3c.270C>T (p.Cys90=)
c.6C>T (p.Cys2=)
 dbSNP gnomAD v2 gnomAD v4
15g.71811793delCA2629291773NR2E3c.273del (p.Val92TrpfsTer14)
c.9del (p.Val4TrpfsTer14)
 gnomAD v4
15g.71811791C>ACA393032391NR2E3c.271C>A (p.Pro91Thr)
c.7C>A (p.Pro3Thr)
15g.71811791C=CA2186513735NR2E3c.271C= (p.Pro91=)
c.7C= (p.Pro3=)
15g.71811791C>GCA393032393NR2E3c.271C>G (p.Pro91Ala)
c.7C>G (p.Pro3Ala)
15g.71811791C>TCA393032395NR2E3c.271C>T (p.Pro91Ser)
c.7C>T (p.Pro3Ser)
 dbSNP gnomAD v3 gnomAD v4
15g.71811792C>ACA393032405NR2E3c.272C>A (p.Pro91His)
c.8C>A (p.Pro3His)
 gnomAD v4
15g.71811792C>GCA393032402NR2E3c.272C>G (p.Pro91Arg)
c.8C>G (p.Pro3Arg)
15g.71811792C>TCA393032399NR2E3c.272C>T (p.Pro91Leu)
c.8C>T (p.Pro3Leu)
15g.71811793C>ACA491103530NR2E3c.273C>A (p.Pro91=)
c.9C>A (p.Pro3=)
 gnomAD v4
15g.71811793C=CA2186513736NR2E3c.273C= (p.Pro91=)
c.9C= (p.Pro3=)
15g.71811793C>GCA491103531NR2E3c.273C>G (p.Pro91=)
c.9C>G (p.Pro3=)
15g.71811793C>TCA7640276NR2E3c.273C>T (p.Pro91=)
c.9C>T (p.Pro3=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811794G>ACA7640277NR2E3c.274G>A (p.Val92Met)
c.10G>A (p.Val4Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.71811794G>CCA393032415NR2E3c.274G>C (p.Val92Leu)
c.10G>C (p.Val4Leu)
 ClinVar
15g.71811794G=CA2186513737NR2E3c.274G= (p.Val92=)
c.10G= (p.Val4=)
15g.71811794G>TCA393032418NR2E3c.274G>T (p.Val92Leu)
c.10G>T (p.Val4Leu)
 gnomAD v4
15g.71811795T>ACA393032421NR2E3c.275T>A (p.Val92Glu)
c.11T>A (p.Val4Glu)
15g.71811795T>CCA393032423NR2E3c.275T>C (p.Val92Ala)
c.11T>C (p.Val4Ala)
 gnomAD v4
15g.71811795T>GCA393032426NR2E3c.275T>G (p.Val92Gly)
c.11T>G (p.Val4Gly)
15g.71811796G>ACA491103532NR2E3c.276G>A (p.Val92=)
c.12G>A (p.Val4=)
15g.71811796G>CCA491103533NR2E3c.276G>C (p.Val92=)
c.12G>C (p.Val4=)
15g.71811796G>TCA491103534NR2E3c.276G>T (p.Val92=)
c.12G>T (p.Val4=)
15g.71811797G>ACA393032430NR2E3c.277G>A (p.Asp93Asn)
c.13G>A (p.Asp5Asn)
15g.71811797G>CCA393032433NR2E3c.277G>C (p.Asp93His)
c.13G>C (p.Asp5His)
15g.71811797G>TCA393032436NR2E3c.277G>T (p.Asp93Tyr)
c.13G>T (p.Asp5Tyr)
15g.71811797_71811799delCA2804685740NR2E3c.277_279del (p.Asp93del)
c.13_15del (p.Asp5del)
15g.71811798A=CA2186513738NR2E3c.278A= (p.Asp93=)
c.14A= (p.Asp5=)
15g.71811798A>CCA393032441NR2E3c.278A>C (p.Asp93Ala)
c.14A>C (p.Asp5Ala)
15g.71811798A>GCA393032444NR2E3c.278A>G (p.Asp93Gly)
c.14A>G (p.Asp5Gly)
 dbSNP
15g.71811798A>TCA393032446NR2E3c.278A>T (p.Asp93Val)
c.14A>T (p.Asp5Val)
15g.71811799C>ACA393032450NR2E3c.279C>A (p.Asp93Glu)
c.15C>A (p.Asp5Glu)
 gnomAD v4
15g.71811799C>GCA393032453NR2E3c.279C>G (p.Asp93Glu)
c.15C>G (p.Asp5Glu)
15g.71811799C>TCA491103535NR2E3c.279C>T (p.Asp93=)
c.15C>T (p.Asp5=)
 gnomAD v4
15g.71811800A>CCA393032454NR2E3c.280A>C (p.Lys94Gln)
c.16A>C (p.Lys6Gln)
15g.71811800A>GCA393032457NR2E3c.280A>G (p.Lys94Glu)
c.16A>G (p.Lys6Glu)
15g.71811800A>TCA393032460NR2E3c.280A>T (p.Lys94Ter)
c.16A>T (p.Lys6Ter)
15g.71811801A>CCA393032468NR2E3c.281A>C (p.Lys94Thr)
c.17A>C (p.Lys6Thr)
15g.71811801A>GCA393032471NR2E3c.281A>G (p.Lys94Arg)
c.17A>G (p.Lys6Arg)
 gnomAD v4
15g.71811801A>TCA393032473NR2E3c.281A>T (p.Lys94Met)
c.17A>T (p.Lys6Met)
 gnomAD v4
15g.71811802G>ACA491103536NR2E3c.282G>A (p.Lys94=)
c.18G>A (p.Lys6=)
15g.71811802G>CCA393032479NR2E3c.282G>C (p.Lys94Asn)
c.18G>C (p.Lys6Asn)
15g.71811802G>TCA393032477NR2E3c.282G>T (p.Lys94Asn)
c.18G>T (p.Lys6Asn)
 gnomAD v4
15g.71811803G>ACA393032483NR2E3c.283G>A (p.Ala95Thr)
c.19G>A (p.Ala7Thr)
 gnomAD v4
15g.71811803G>CCA393032487NR2E3c.283G>C (p.Ala95Pro)
c.19G>C (p.Ala7Pro)
15g.71811803G>TCA393032490NR2E3c.283G>T (p.Ala95Ser)
c.19G>T (p.Ala7Ser)
15g.71811804C>ACA393032494NR2E3c.284C>A (p.Ala95Asp)
c.20C>A (p.Ala7Asp)
 gnomAD v4
15g.71811804C=CA2186513739NR2E3c.284C= (p.Ala95=)
c.20C= (p.Ala7=)
15g.71811804C>GCA272574988NR2E3c.284C>G (p.Ala95Gly)
c.20C>G (p.Ala7Gly)
 dbSNP gnomAD v3 gnomAD v4
15g.71811804C>TCA393032498NR2E3c.284C>T (p.Ala95Val)
c.20C>T (p.Ala7Val)
 gnomAD v4
15g.71811805C>ACA491103537NR2E3c.285C>A (p.Ala95=)
c.21C>A (p.Ala7=)
 gnomAD v4
15g.71811805C=CA2186513740NR2E3c.285C= (p.Ala95=)
c.21C= (p.Ala7=)
15g.71811805C>GCA491103538NR2E3c.285C>G (p.Ala95=)
c.21C>G (p.Ala7=)
15g.71811805C>TCA491103539NR2E3c.285C>T (p.Ala95=)
c.21C>T (p.Ala7=)
 ClinVar dbSNP gnomAD v4
15g.71811806C>ACA393032502NR2E3c.286C>A (p.His96Asn)
c.22C>A (p.His8Asn)
 gnomAD v4
15g.71811806C=CA2186513741NR2E3c.286C= (p.His96=)
c.22C= (p.His8=)
15g.71811806C>GCA393032509NR2E3c.286C>G (p.His96Asp)
c.22C>G (p.His8Asp)
15g.71811806C>TCA393032505NR2E3c.286C>T (p.His96Tyr)
c.22C>T (p.His8Tyr)
 dbSNP gnomAD v2 gnomAD v4
15g.71811807delCA2629291813NR2E3c.287del (p.His96ProfsTer10)
c.23del (p.His8ProfsTer10)
 gnomAD v4
15g.71811807A>CCA393032511NR2E3c.287A>C (p.His96Pro)
c.23A>C (p.His8Pro)
 dbSNP
15g.71811807A>GCA393032514NR2E3c.287A>G (p.His96Arg)
c.23A>G (p.His8Arg)
 gnomAD v4
15g.71811807A>TCA393032517NR2E3c.287A>T (p.His96Leu)
c.23A>T (p.His8Leu)
15g.71811808C>ACA393032521NR2E3c.288C>A (p.His96Gln)
c.24C>A (p.His8Gln)
 gnomAD v4
15g.71811808C>GCA393032524NR2E3c.288C>G (p.His96Gln)
c.24C>G (p.His8Gln)
15g.71811808C>TCA491103540NR2E3c.288C>T (p.His96=)
c.24C>T (p.His8=)
 gnomAD v4
15g.71811809C>ACA393032526NR2E3c.289C>A (p.Arg97Ser)
c.25C>A (p.Arg9Ser)
 gnomAD v4
15g.71811809C=CA2186513742NR2E3c.289C= (p.Arg97=)
c.25C= (p.Arg9=)
15g.71811809C>GCA393032530NR2E3c.289C>G (p.Arg97Gly)
c.25C>G (p.Arg9Gly)
 gnomAD v4
15g.71811809C>TCA272574991NR2E3c.289C>T (p.Arg97Cys)
c.25C>T (p.Arg9Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.71811810G>ACA393032536NR2E3c.290G>A (p.Arg97His)
c.26G>A (p.Arg9His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811810G>CCA393032543NR2E3c.290G>C (p.Arg97Pro)
c.26G>C (p.Arg9Pro)
15g.71811810G=CA2186513743NR2E3c.290G= (p.Arg97=)
c.26G= (p.Arg9=)
15g.71811810G>TCA393032546NR2E3c.290G>T (p.Arg97Leu)
c.26G>T (p.Arg9Leu)
 gnomAD v4
15g.71811811C>ACA491103541NR2E3c.291C>A (p.Arg97=)
c.27C>A (p.Arg9=)
 gnomAD v4
15g.71811811C>GCA491103542NR2E3c.291C>G (p.Arg97=)
c.27C>G (p.Arg9=)
15g.71811811C>TCA491103543NR2E3c.291C>T (p.Arg97=)
c.27C>T (p.Arg9=)
 gnomAD v4
15g.71811812A>CCA393032553NR2E3c.292A>C (p.Asn98His)
c.28A>C (p.Asn10His)
15g.71811812A>GCA393032556NR2E3c.292A>G (p.Asn98Asp)
c.28A>G (p.Asn10Asp)
15g.71811812A>TCA393032550NR2E3c.292A>T (p.Asn98Tyr)
c.28A>T (p.Asn10Tyr)
15g.71811813A>CCA393032560NR2E3c.293A>C (p.Asn98Thr)
c.29A>C (p.Asn10Thr)
15g.71811813A>GCA393032559NR2E3c.293A>G (p.Asn98Ser)
c.29A>G (p.Asn10Ser)
15g.71811813A>TCA393032562NR2E3c.293A>T (p.Asn98Ile)
c.29A>T (p.Asn10Ile)
15g.71811814C>ACA393032565NR2E3c.294C>A (p.Asn98Lys)
c.30C>A (p.Asn10Lys)
 gnomAD v4
15g.71811814C>GCA393032567NR2E3c.294C>G (p.Asn98Lys)
c.30C>G (p.Asn10Lys)
15g.71811814C>TCA491103544NR2E3c.294C>T (p.Asn98=)
c.30C>T (p.Asn10=)
 gnomAD v4
15g.71811815C>ACA393032568NR2E3c.295C>A (p.Gln99Lys)
c.31C>A (p.Gln11Lys)
 gnomAD v4
15g.71811815C>GCA393032570NR2E3c.295C>G (p.Gln99Glu)
c.31C>G (p.Gln11Glu)
 gnomAD v4
15g.71811815C>TCA393032569NR2E3c.295C>T (p.Gln99Ter)
c.31C>T (p.Gln11Ter)
15g.71811815_71811839delinsCAGTGCCAGGCCTGCCGGCTGAAGACA2186513744NR2E3c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA (p.Gln99=)
c.31_55delinsCAGTGCCAGGCCTGCCGGCTGAAGA (p.Gln11=)
15g.71811816A=CA2186513745NR2E3c.296A= (p.Gln99=)
c.32A= (p.Gln11=)
15g.71811816A>CCA393032571NR2E3c.296A>C (p.Gln99Pro)
c.32A>C (p.Gln11Pro)
15g.71811816A>GCA393032573NR2E3c.296A>G (p.Gln99Arg)
c.32A>G (p.Gln11Arg)
15g.71811816A>TCA393032574NR2E3c.296A>T (p.Gln99Leu)
c.32A>T (p.Gln11Leu)
 ClinVar dbSNP gnomAD v4
15g.71811822_71811845delCA7640278NR2E3c.302_325del (p.Gln101_Cys108del)
c.38_61del (p.Gln13_Cys20del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.71811817G>ACA491103545NR2E3c.297G>A (p.Gln99=)
c.33G>A (p.Gln11=)
 gnomAD v4
15g.71811817G>CCA393032576NR2E3c.297G>C (p.Gln99His)
c.33G>C (p.Gln11His)
 gnomAD v4
15g.71811817G>TCA393032577NR2E3c.297G>T (p.Gln99His)
c.33G>T (p.Gln11His)
 gnomAD v4
15g.71811818_71811819delCA2695197300NR2E3c.298_299del (p.Cys100ProfsTer?)
c.34_35del (p.Cys12ProfsTer?)
 ClinVar
15g.71811818T>ACA393032580NR2E3c.298T>A (p.Cys100Ser)
c.34T>A (p.Cys12Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.71811818T>CCA393032581NR2E3c.298T>C (p.Cys100Arg)
c.34T>C (p.Cys12Arg)
 gnomAD v4
15g.71811818T>GCA393032584NR2E3c.298T>G (p.Cys100Gly)
c.34T>G (p.Cys12Gly)
15g.71811818T=CA2186513746NR2E3c.298T= (p.Cys100=)
c.34T= (p.Cys12=)
15g.71811819G>ACA393032587NR2E3c.299G>A (p.Cys100Tyr)
c.35G>A (p.Cys12Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.71811819G>CCA393032589NR2E3c.299G>C (p.Cys100Ser)
c.35G>C (p.Cys12Ser)
15g.71811819G=CA2186513747NR2E3c.299G= (p.Cys100=)
c.35G= (p.Cys12=)
15g.71811819G>TCA393032592NR2E3c.299G>T (p.Cys100Phe)
c.35G>T (p.Cys12Phe)
 gnomAD v4
15g.71811820C>ACA393032598NR2E3c.300C>A (p.Cys100Ter)
c.36C>A (p.Cys12Ter)
 gnomAD v4
15g.71811820C=CA2186513748NR2E3c.300C= (p.Cys100=)
c.36C= (p.Cys12=)
15g.71811820C>GCA393032596NR2E3c.300C>G (p.Cys100Trp)
c.36C>G (p.Cys12Trp)
15g.71811820C>TCA491103547NR2E3c.300C>T (p.Cys100=)
c.36C>T (p.Cys12=)
 ClinVar dbSNP gnomAD v4
15g.71811821C>ACA393032605NR2E3c.301C>A (p.Gln101Lys)
c.37C>A (p.Gln13Lys)
 gnomAD v4
15g.71811821C=CA2186513749NR2E3c.301C= (p.Gln101=)
c.37C= (p.Gln13=)
15g.71811821C>GCA393032607NR2E3c.301C>G (p.Gln101Glu)
c.37C>G (p.Gln13Glu)
 gnomAD v4
15g.71811821C>TCA393032609NR2E3c.301C>T (p.Gln101Ter)
c.37C>T (p.Gln13Ter)
 ClinVar dbSNP gnomAD v4
15g.71811822A>CCA393032613NR2E3c.302A>C (p.Gln101Pro)
c.38A>C (p.Gln13Pro)
15g.71811822A>GCA393032617NR2E3c.302A>G (p.Gln101Arg)
c.38A>G (p.Gln13Arg)
 gnomAD v4
15g.71811822A>TCA393032620NR2E3c.302A>T (p.Gln101Leu)
c.38A>T (p.Gln13Leu)
15g.71811823G>ACA491103548NR2E3c.303G>A (p.Gln101=)
c.39G>A (p.Gln13=)
 ClinVar
15g.71811823G>CCA393032624NR2E3c.303G>C (p.Gln101His)
c.39G>C (p.Gln13His)
15g.71811823G>TCA393032627NR2E3c.303G>T (p.Gln101His)
c.39G>T (p.Gln13His)
 gnomAD v4

Number of alleles fetched