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.88427500_88427502del	CA2634824086	ZNF469	c.30_32del (p.Pro11del) n.250+2466_250+2468del	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=
16	g.88427501C>G	CA397057436	ZNF469	c.31C>G (p.Pro11Ala) n.250+2463G>C
16	g.88427501C>T	CA286371211	ZNF469	c.31C>T (p.Pro11Ser) n.250+2463G>A	dbSNP gnomAD v4
16	g.88427506dup	CA725561874	ZNF469	c.36dup (p.Thr13HisfsTer?) n.250+2463dup	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.88427506del	CA624447567	ZNF469	c.36del (p.Thr13ProfsTer2) n.250+2463del	dbSNP gnomAD v2 gnomAD v4
16	g.88427505_88427506del	CA2634824088	ZNF469	c.35_36del (p.Pro12HisfsTer?) n.250+2462_250+2463del	gnomAD v4
16	g.88427504_88427506del	CA2634824087	ZNF469	c.34_36del (p.Pro12del) n.250+2461_250+2463del	gnomAD v4
16	g.88427502C>A	CA397057440	ZNF469	c.32C>A (p.Pro11His) n.250+2462G>T	dbSNP gnomAD v4
16	g.88427502C=	CA2241070031	ZNF469	c.32C= (p.Pro11=) n.250+2462G=
16	g.88427502C>G	CA397057441	ZNF469	c.32C>G (p.Pro11Arg) n.250+2462G>C	gnomAD v4
16	g.88427502C>T	CA397057442	ZNF469	c.32C>T (p.Pro11Leu) n.250+2462G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.88427503C>A	CA497342959	ZNF469	c.33C>A (p.Pro11=) n.250+2461G>T
16	g.88427503C>G	CA497342960	ZNF469	c.33C>G (p.Pro11=) n.250+2461G>C
16	g.88427503C>T	CA497342961	ZNF469	c.33C>T (p.Pro11=) n.250+2461G>A	gnomAD v4
16	g.88427504C>A	CA397057443	ZNF469	c.34C>A (p.Pro12Thr) n.250+2460G>T
16	g.88427504C>G	CA397057444	ZNF469	c.34C>G (p.Pro12Ala) n.250+2460G>C
16	g.88427504C>T	CA397057449	ZNF469	c.34C>T (p.Pro12Ser) n.250+2460G>A
16	g.88427505C>A	CA397057461	ZNF469	c.35C>A (p.Pro12His) n.250+2459G>T	gnomAD v4
16	g.88427505C>G	CA397057465	ZNF469	c.35C>G (p.Pro12Arg) n.250+2459G>C	gnomAD v4
16	g.88427505C>T	CA397057470	ZNF469	c.35C>T (p.Pro12Leu) n.250+2459G>A
16	g.88427506C>A	CA8224564	ZNF469	c.36C>A (p.Pro12=) n.250+2458G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427506C=	CA2241070032	ZNF469	c.36C= (p.Pro12=) n.250+2458G=
16	g.88427506C>G	CA286371220	ZNF469	c.36C>G (p.Pro12=) n.250+2458G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.88427506C>T	CA497342962	ZNF469	c.36C>T (p.Pro12=) n.250+2458G>A	dbSNP gnomAD v2 gnomAD v4
16	g.88427507A>C	CA397057497	ZNF469	c.37A>C (p.Thr13Pro) n.250+2457T>G
16	g.88427507A>G	CA397057495	ZNF469	c.37A>G (p.Thr13Ala) n.250+2457T>C
16	g.88427507A>T	CA397057492	ZNF469	c.37A>T (p.Thr13Ser) n.250+2457T>A	dbSNP
16	g.88427507_88427508delinsAC	CA2241070033	ZNF469	c.37_38delinsAC (p.Thr13=) n.250+2456_250+2457delinsGT
16	g.88427508C>A	CA397057502	ZNF469	c.38C>A (p.Thr13Asn) n.250+2456G>T
16	g.88427508C=	CA2241070034	ZNF469	c.38C= (p.Thr13=) n.250+2456G=
16	g.88427508C>G	CA397057514	ZNF469	c.38C>G (p.Thr13Ser) n.250+2456G>C	gnomAD v4
16	g.88427508C>T	CA397057510	ZNF469	c.38C>T (p.Thr13Ile) n.250+2456G>A	dbSNP gnomAD v2 gnomAD v4
16	g.88427509del	CA624447568	ZNF469	c.39del (p.Met14Ter) n.250+2456del	dbSNP gnomAD v2 gnomAD v4
16	g.88427509C>A	CA497342966	ZNF469	c.39C>A (p.Thr13=) n.250+2455G>T
16	g.88427509C>G	CA497342964	ZNF469	c.39C>G (p.Thr13=) n.250+2455G>C	COSMIC

Number of alleles fetched