Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.88427487_88427499del	CA2697556085	ZNF469	c.17_29del (p.Pro6ArgfsTer5) n.250+2473_250+2485del	ClinVar
16	g.88427489del	CA2241070017	ZNF469	c.19del (p.Arg7GlufsTer8) n.250+2479del	ClinVar dbSNP gnomAD v4
16	g.88427489C>A	CA497342948	ZNF469	c.19C>A (p.Arg7=) n.250+2475G>T	gnomAD v4
16	g.88427489C=	CA2241070021	ZNF469	c.19C= (p.Arg7=) n.250+2475G=
16	g.88427489C>G	CA397057275	ZNF469	c.19C>G (p.Arg7Gly) n.250+2475G>C	gnomAD v4
16	g.88427489C>T	CA16607117	ZNF469	c.19C>T (p.Arg7Ter) n.250+2475G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427490G>A	CA286371183	ZNF469	c.20G>A (p.Arg7Gln) n.250+2474C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427490G>C	CA397057298	ZNF469	c.20G>C (p.Arg7Pro) n.250+2474C>G	gnomAD v4
16	g.88427490G=	CA2241070022	ZNF469	c.20G= (p.Arg7=) n.250+2474C=
16	g.88427490G>T	CA397057301	ZNF469	c.20G>T (p.Arg7Leu) n.250+2474C>A	gnomAD v4
16	g.88427491A>C	CA497342949	ZNF469	c.21A>C (p.Arg7=) n.250+2473T>G
16	g.88427491A>G	CA497342950	ZNF469	c.21A>G (p.Arg7=) n.250+2473T>C
16	g.88427491A>T	CA497342951	ZNF469	c.21A>T (p.Arg7=) n.250+2473T>A
16	g.88427492G>A	CA397057320	ZNF469	c.22G>A (p.Gly8Arg) n.250+2472C>T	gnomAD v4
16	g.88427492G>C	CA397057321	ZNF469	c.22G>C (p.Gly8Arg) n.250+2472C>G
16	g.88427492G>T	CA397057322	ZNF469	c.22G>T (p.Gly8Ter) n.250+2472C>A
16	g.88427493G>A	CA397057328	ZNF469	c.23G>A (p.Gly8Glu) n.250+2471C>T
16	g.88427493G>C	CA397057332	ZNF469	c.23G>C (p.Gly8Ala) n.250+2471C>G
16	g.88427493G>T	CA397057325	ZNF469	c.23G>T (p.Gly8Val) n.250+2471C>A
16	g.88427494A=	CA2241070023	ZNF469	c.24A= (p.Gly8=) n.250+2470T=
16	g.88427494A>C	CA497342952	ZNF469	c.24A>C (p.Gly8=) n.250+2470T>G	gnomAD v4
16	g.88427494A>G	CA8224562	ZNF469	c.24A>G (p.Gly8=) n.250+2470T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427494A>T	CA497342953	ZNF469	c.24A>T (p.Gly8=) n.250+2470T>A
16	g.88427495G>A	CA397057359	ZNF469	c.25G>A (p.Ala9Thr) n.250+2469C>T	dbSNP
16	g.88427495G>C	CA397057360	ZNF469	c.25G>C (p.Ala9Pro) n.250+2469C>G
16	g.88427495G=	CA2241070024	ZNF469	c.25G= (p.Ala9=) n.250+2469C=
16	g.88427495G>T	CA397057361	ZNF469	c.25G>T (p.Ala9Ser) n.250+2469C>A	gnomAD v4
16	g.88427496C>A	CA397057362	ZNF469	c.26C>A (p.Ala9Glu) n.250+2468G>T	gnomAD v4
16	g.88427496C=	CA2241070025	ZNF469	c.26C= (p.Ala9=) n.250+2468G=
16	g.88427496C>G	CA397057367	ZNF469	c.26C>G (p.Ala9Gly) n.250+2468G>C	gnomAD v4
16	g.88427496C>T	CA286371187	ZNF469	c.26C>T (p.Ala9Val) n.250+2468G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427500_88427502del	CA2634824086	ZNF469	c.30_32del (p.Pro11del) n.250+2466_250+2468del	gnomAD v4
16	g.88427497G>A	CA286371189	ZNF469	c.27G>A (p.Ala9=) n.250+2467C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427497G>C	CA497342954	ZNF469	c.27G>C (p.Ala9=) n.250+2467C>G
16	g.88427497G=	CA2241070026	ZNF469	c.27G= (p.Ala9=) n.250+2467C=
16	g.88427497G>T	CA497342955	ZNF469	c.27G>T (p.Ala9=) n.250+2467C>A	gnomAD v4
16	g.88427498C>A	CA397057388	ZNF469	c.28C>A (p.Pro10Thr) n.250+2466G>T
16	g.88427498C>G	CA397057409	ZNF469	c.28C>G (p.Pro10Ala) n.250+2466G>C
16	g.88427498C>T	CA397057391	ZNF469	c.28C>T (p.Pro10Ser) n.250+2466G>A	gnomAD v4
16	g.88427499C>A	CA397057415	ZNF469	c.29C>A (p.Pro10Gln) n.250+2465G>T	gnomAD v4
16	g.88427499C=	CA2241070027	ZNF469	c.29C= (p.Pro10=) n.250+2465G=
16	g.88427499C>G	CA397057422	ZNF469	c.29C>G (p.Pro10Arg) n.250+2465G>C
16	g.88427499C>T	CA286371196	ZNF469	c.29C>T (p.Pro10Leu) n.250+2465G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427500G>A	CA8224563	ZNF469	c.30G>A (p.Pro10=) n.250+2464C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427500G>C	CA497342957	ZNF469	c.30G>C (p.Pro10=) n.250+2464C>G
16	g.88427500G=	CA2241070029	ZNF469	c.30G= (p.Pro10=) n.250+2464C=
16	g.88427500G>T	CA497342958	ZNF469	c.30G>T (p.Pro10=) n.250+2464C>A	gnomAD v4
16	g.88427500_88427501delinsGC	CA2241070028	ZNF469	c.30_31delinsGC (p.Pro10=) n.250+2463_250+2464delinsGC
16	g.88427501C>A	CA397057427	ZNF469	c.31C>A (p.Pro11Thr) n.250+2463G>T	gnomAD v4
16	g.88427501C=	CA2241070030	ZNF469	c.31C= (p.Pro11=) n.250+2463G=

Number of alleles fetched