Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.25013444_25013446dupCA641364633ARXc.558_560dup (p.Pro187_Ala188insPro)
gnomAD
Xg.25013444_25013446delCA641364632ARXc.558_560del (p.Pro187del)
gnomAD
Xg.25013444G>ACA412612927ARXc.551C>T (p.Pro184Leu)
Xg.25013444G>CCA412612928ARXc.551C>G (p.Pro184Arg)
ClinVar
Xg.25013444G>TCA412612929ARXc.551C>A (p.Pro184Gln)
Xg.25013445G>ACA412612930ARXc.550C>T (p.Pro184Ser)
gnomAD
Xg.25013445G>CCA412612931ARXc.550C>G (p.Pro184Ala)
Xg.25013445G>TCA412612932ARXc.550C>A (p.Pro184Thr)
Xg.25013446C>ACA515948271ARXc.549G>T (p.Val183=)
Xg.25013446C>GCA515948273ARXc.549G>C (p.Val183=)
Xg.25013446C>TCA515948276ARXc.549G>A (p.Val183=)
gnomAD
Xg.25013447A>CCA412612933ARXc.548T>G (p.Val183Gly)
Xg.25013447A>GCA412612934ARXc.548T>C (p.Val183Ala)
Xg.25013447A>TCA412612935ARXc.548T>A (p.Val183Glu)
Xg.25013448C>ACA412612936ARXc.547G>T (p.Val183Leu)
Xg.25013448C>GCA412612937ARXc.547G>C (p.Val183Leu)
Xg.25013448C>TCA412612938ARXc.547G>A (p.Val183Met)
Xg.25013449G>ACA515948284ARXc.546C>T (p.Phe182=)
Xg.25013449G>CCA412612940ARXc.546C>G (p.Phe182Leu)
Xg.25013449G>TCA412612939ARXc.546C>A (p.Phe182Leu)
Xg.25013450A>CCA412612941ARXc.545T>G (p.Phe182Cys)
Xg.25013450A>GCA412612942ARXc.545T>C (p.Phe182Ser)
Xg.25013450A>TCA412612943ARXc.545T>A (p.Phe182Tyr)
Xg.25013451A>CCA412612944ARXc.544T>G (p.Phe182Val)
Xg.25013451A>GCA412612945ARXc.544T>C (p.Phe182Leu)
Xg.25013451A>TCA412612946ARXc.544T>A (p.Phe182Ile)
Xg.25013452G>ACA289511ARXc.543C>T (p.Pro181=)
ClinVar dbSNP
Xg.25013452G>CCA515948293ARXc.543C>G (p.Pro181=)
Xg.25013452G>TCA515948294ARXc.543C>A (p.Pro181=)
Xg.25013453G>ACA412612947ARXc.542C>T (p.Pro181Leu)
Xg.25013453G>CCA412612948ARXc.542C>G (p.Pro181Arg)
Xg.25013453G>TCA412612949ARXc.542C>A (p.Pro181His)
Xg.25013454G>ACA412612950ARXc.541C>T (p.Pro181Ser)
Xg.25013454G>CCA412612951ARXc.541C>G (p.Pro181Ala)
Xg.25013454G>TCA412612952ARXc.541C>A (p.Pro181Thr)
Xg.25013455C>ACA241831ARXc.540G>T (p.Ala180=)
ClinVar dbSNP
Xg.25013455C>GCA515947493ARXc.540G>C (p.Ala180=)
Xg.25013455C>TCA515947492ARXc.540G>A (p.Ala180=)
Xg.25013456G>ACA412612954ARXc.539C>T (p.Ala180Val)
gnomAD
Xg.25013456G>CCA412612953ARXc.539C>G (p.Ala180Gly)
Xg.25013456G>TCA412612955ARXc.539C>A (p.Ala180Glu)
Xg.25013457C>ACA412612956ARXc.538G>T (p.Ala180Ser)
Xg.25013457C>GCA412612957ARXc.538G>C (p.Ala180Pro)
Xg.25013457C>TCA412612958ARXc.538G>A (p.Ala180Thr)
Xg.25013458C>ACA515947498ARXc.537G>T (p.Gly179=)
Xg.25013458C>GCA515947499ARXc.537G>C (p.Gly179=)
Xg.25013458C>TCA515947500ARXc.537G>A (p.Gly179=)
Xg.25013459C>ACA412612959ARXc.536G>T (p.Gly179Val)
gnomAD
Xg.25013459C>GCA412612960ARXc.536G>C (p.Gly179Ala)
Xg.25013459C>TCA412612961ARXc.536G>A (p.Gly179Glu)

Number of alleles fetched