Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.41586722_41586776delinsCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGA	CA2260086996	KRT14	c.59_113delinsTCGGGGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGG (p.Ile20=)
17	g.41586723_41586776del	CA626215433	KRT14	c.59_112del (p.Ile20_Gly38delinsArg)	dbSNP gnomAD v2 gnomAD v4
17	g.41586753_41586765delinsAGCCGCCCCCGAT	CA2260087016	KRT14	c.70_82delinsATCGGGGGCGGCT (p.Ile24=)
17	g.41586754G>A	CA500205828	KRT14	c.81C>T (p.Gly27=)
17	g.41586754G>C	CA500205829	KRT14	c.81C>G (p.Gly27=)
17	g.41586754G>T	CA500205830	KRT14	c.81C>A (p.Gly27=)
17	g.41586771_41586782dup	CA8562826	KRT14	c.70_81dup (p.Gly27_Ser28insIleGlyGlyGly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586771_41586782del	CA8562825	KRT14	c.70_81del (p.Ile24_Gly27del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586755C>A	CA399483641	KRT14	c.80G>T (p.Gly27Val)
17	g.41586755C=	CA2260087017	KRT14	c.80G= (p.Gly27=)
17	g.41586755C>G	CA399483640	KRT14	c.80G>C (p.Gly27Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586755C>T	CA399483642	KRT14	c.80G>A (p.Gly27Asp)	gnomAD v4
17	g.41586756C>A	CA399483643	KRT14	c.79G>T (p.Gly27Cys)
17	g.41586756C=	CA2260087018	KRT14	c.79G= (p.Gly27=)
17	g.41586756C>G	CA399483644	KRT14	c.79G>C (p.Gly27Arg)
17	g.41586756C>T	CA8562827	KRT14	c.79G>A (p.Gly27Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586757G>A	CA8562828	KRT14	c.78C>T (p.Gly26=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586757G>C	CA500205831	KRT14	c.78C>G (p.Gly26=)
17	g.41586757G=	CA2260087019	KRT14	c.78C= (p.Gly26=)
17	g.41586757G>T	CA500205832	KRT14	c.78C>A (p.Gly26=)
17	g.41586757_41586758delinsGC	CA2260087020	KRT14	c.77_78delinsGC (p.Gly26=)
17	g.41586758C>A	CA399483645	KRT14	c.77G>T (p.Gly26Val)
17	g.41586758C>G	CA399483646	KRT14	c.77G>C (p.Gly26Ala)
17	g.41586758C>T	CA399483648	KRT14	c.77G>A (p.Gly26Asp)
17	g.41586762dup	CA2809495499	KRT14	c.77dup (p.Gly27ArgfsTer?)
17	g.41586762del	CA772041229	KRT14	c.77del (p.Gly26AlafsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.41586759C>A	CA399483651	KRT14	c.76G>T (p.Gly26Cys)
17	g.41586759C>G	CA399483653	KRT14	c.76G>C (p.Gly26Arg)
17	g.41586759C>T	CA399483655	KRT14	c.76G>A (p.Gly26Ser)	gnomAD v4
17	g.41586760C>A	CA500205833	KRT14	c.75G>T (p.Gly25=)
17	g.41586760C>G	CA500205834	KRT14	c.75G>C (p.Gly25=)	gnomAD v4
17	g.41586760C>T	CA500205835	KRT14	c.75G>A (p.Gly25=)
17	g.41586761C>A	CA399483663	KRT14	c.74G>T (p.Gly25Val)	gnomAD v4
17	g.41586761C=	CA2260087021	KRT14	c.74G= (p.Gly25=)
17	g.41586761C>G	CA399483661	KRT14	c.74G>C (p.Gly25Ala)
17	g.41586761C>T	CA399483659	KRT14	c.74G>A (p.Gly25Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.41586762C>A	CA399483666	KRT14	c.73G>T (p.Gly25Trp)	gnomAD v4
17	g.41586762C=	CA2260087023	KRT14	c.73G= (p.Gly25=)
17	g.41586762C>G	CA399483668	KRT14	c.73G>C (p.Gly25Arg)	gnomAD v4
17	g.41586762C>T	CA8562829	KRT14	c.73G>A (p.Gly25Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586762_41586763delinsCG	CA2260087022	KRT14	c.72_73delinsCG (p.Ile24=)
17	g.41586763del	CA772041234	KRT14	c.72del (p.Ile24MetfsTer?)	dbSNP
17	g.41586763G>A	CA500205836	KRT14	c.72C>T (p.Ile24=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586763G>C	CA399483672	KRT14	c.72C>G (p.Ile24Met)
17	g.41586763G=	CA2260087024	KRT14	c.72C= (p.Ile24=)
17	g.41586763G>T	CA500205837	KRT14	c.72C>A (p.Ile24=)
17	g.41586764A=	CA2260087025	KRT14	c.71T= (p.Ile24=)
17	g.41586764A>C	CA399483676	KRT14	c.71T>G (p.Ile24Ser)
17	g.41586764A>G	CA399483678	KRT14	c.71T>C (p.Ile24Thr)	dbSNP gnomAD v2
17	g.41586764A>T	CA399483681	KRT14	c.71T>A (p.Ile24Asn)

Number of alleles fetched