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.41586746C>A	CA399483601	KRT14	c.89G>T (p.Arg30Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.41586746C=	CA2260087010	KRT14	c.89G= (p.Arg30=)
17	g.41586746C>G	CA399483603	KRT14	c.89G>C (p.Arg30Pro)
17	g.41586746C>T	CA8562822	KRT14	c.89G>A (p.Arg30His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586747G>A	CA216988	KRT14	c.88C>T (p.Arg30Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586747G>C	CA399483609	KRT14	c.88C>G (p.Arg30Gly)
17	g.41586747G=	CA2260087011	KRT14	c.88C= (p.Arg30=)
17	g.41586747G>T	CA399483610	KRT14	c.88C>A (p.Arg30Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.41586748G>A	CA500205824	KRT14	c.87C>T (p.Ser29=)
17	g.41586748G>C	CA399483615	KRT14	c.87C>G (p.Ser29Arg)
17	g.41586748G>T	CA399483613	KRT14	c.87C>A (p.Ser29Arg)
17	g.41586749C>A	CA399483618	KRT14	c.86G>T (p.Ser29Ile)
17	g.41586749C>G	CA399483620	KRT14	c.86G>C (p.Ser29Thr)
17	g.41586749C>T	CA399483622	KRT14	c.86G>A (p.Ser29Asn)	gnomAD v4
17	g.41586750T>A	CA399483625	KRT14	c.85A>T (p.Ser29Cys)
17	g.41586750T>C	CA8562823	KRT14	c.85A>G (p.Ser29Gly)	dbSNP ExAC gnomAD v4
17	g.41586750T>G	CA399483629	KRT14	c.85A>C (p.Ser29Arg)
17	g.41586750T=	CA2260087012	KRT14	c.85A= (p.Ser29=)
17	g.41586751G>A	CA500205827	KRT14	c.84C>T (p.Ser28=)	dbSNP
17	g.41586751G>C	CA500205825	KRT14	c.84C>G (p.Ser28=)
17	g.41586751G=	CA2260087013	KRT14	c.84C= (p.Ser28=)
17	g.41586751G>T	CA500205826	KRT14	c.84C>A (p.Ser28=)	gnomAD v4
17	g.41586752G>A	CA399483632	KRT14	c.83C>T (p.Ser28Phe)	dbSNP
17	g.41586752G>C	CA399483634	KRT14	c.83C>G (p.Ser28Cys)
17	g.41586752G=	CA2260087014	KRT14	c.83C= (p.Ser28=)
17	g.41586752G>T	CA8562824	KRT14	c.83C>A (p.Ser28Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.41586753A=	CA2260087015	KRT14	c.82T= (p.Ser28=)
17	g.41586753A>C	CA399483638	KRT14	c.82T>G (p.Ser28Ala)
17	g.41586753A>G	CA290665666	KRT14	c.82T>C (p.Ser28Pro)	dbSNP gnomAD v4
17	g.41586753A>T	CA399483639	KRT14	c.82T>A (p.Ser28Thr)
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=)

Number of alleles fetched