Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.57964158G>A	CA10581700	CNGB1	c.262C>T (p.Gln88Ter) n.320C>T	ClinVar dbSNP gnomAD v4
16	g.57964158G>C	CA396080085	CNGB1	c.262C>G (p.Gln88Glu) n.320C>G
16	g.57964158G=	CA2224857253	CNGB1	c.262C= (p.Gln88=) n.320C=
16	g.57964158G>T	CA396080087	CNGB1	c.262C>A (p.Gln88Lys) n.320C>A
16	g.57964159G>A	CA495650567	CNGB1	c.261C>T (p.Ala87=) n.319C>T
16	g.57964159G>C	CA495650568	CNGB1	c.261C>G (p.Ala87=) n.319C>G	gnomAD v4
16	g.57964159G>T	CA495650569	CNGB1	c.261C>A (p.Ala87=) n.319C>A
16	g.57964160G>A	CA396080089	CNGB1	c.260C>T (p.Ala87Val) n.318C>T	gnomAD v2
16	g.57964160G>C	CA396080095	CNGB1	c.260C>G (p.Ala87Gly) n.318C>G
16	g.57964160G>T	CA396080092	CNGB1	c.260C>A (p.Ala87Asp) n.318C>A	gnomAD v4
16	g.57964160_57964161delinsGC	CA2224857254	CNGB1	c.259_260delinsGC (p.Ala87=) n.317_318delinsGC
16	g.57964161C>A	CA396080097	CNGB1	c.259G>T (p.Ala87Ser) n.317G>T
16	g.57964161C=	CA2224857255	CNGB1	c.259G= (p.Ala87=) n.317G=
16	g.57964161C>G	CA396080098	CNGB1	c.259G>C (p.Ala87Pro) n.317G>C	gnomAD v4
16	g.57964161C>T	CA396080099	CNGB1	c.259G>A (p.Ala87Thr) n.317G>A	dbSNP gnomAD v2 gnomAD v4
16	g.57964163del	CA622693120	CNGB1	c.259del (p.Ala87ProfsTer9) n.317del	dbSNP gnomAD v2 gnomAD v4
16	g.57964162C>A	CA495650570	CNGB1	c.258G>T (p.Arg86=) n.316G>T
16	g.57964162C=	CA2224857256	CNGB1	c.258G= (p.Arg86=) n.316G=
16	g.57964162C>G	CA495650571	CNGB1	c.258G>C (p.Arg86=) n.316G>C
16	g.57964162C>T	CA8083927	CNGB1	c.258G>A (p.Arg86=) n.316G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.57964163C>A	CA8083929	CNGB1	c.257G>T (p.Arg86Leu) n.315G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.57964163C=	CA2224857257	CNGB1	c.257G= (p.Arg86=) n.315G=
16	g.57964163C>G	CA8083930	CNGB1	c.257G>C (p.Arg86Pro) n.315G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.57964163C>T	CA8083928	CNGB1	c.257G>A (p.Arg86Gln) n.315G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.57964164G>A	CA8083931	CNGB1	c.256C>T (p.Arg86Trp) n.314C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.57964164G>C	CA396080109	CNGB1	c.256C>G (p.Arg86Gly) n.314C>G
16	g.57964164G=	CA2224857258	CNGB1	c.256C= (p.Arg86=) n.314C=
16	g.57964164G>T	CA495650572	CNGB1	c.256C>A (p.Arg86=) n.314C>A
16	g.57964165G>A	CA495650573	CNGB1	c.255C>T (p.Leu85=) n.313C>T
16	g.57964165G>C	CA495650575	CNGB1	c.255C>G (p.Leu85=) n.313C>G
16	g.57964165G>T	CA495650574	CNGB1	c.255C>A (p.Leu85=) n.313C>A
16	g.57964166A=	CA2224857259	CNGB1	c.254T= (p.Leu85=) n.312T=
16	g.57964166A>C	CA396080112	CNGB1	c.254T>G (p.Leu85Arg) n.312T>G	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.57964166A>G	CA396080115	CNGB1	c.254T>C (p.Leu85Pro) n.312T>C
16	g.57964166A>T	CA396080117	CNGB1	c.254T>A (p.Leu85His) n.312T>A	dbSNP gnomAD v3 gnomAD v4
16	g.57964167G>A	CA396080120	CNGB1	c.253C>T (p.Leu85Phe) n.311C>T	dbSNP gnomAD v2 gnomAD v4
16	g.57964167G>C	CA396080126	CNGB1	c.253C>G (p.Leu85Val) n.311C>G
16	g.57964167G=	CA2224857260	CNGB1	c.253C= (p.Leu85=) n.311C=
16	g.57964167G>T	CA396080128	CNGB1	c.253C>A (p.Leu85Ile) n.311C>A
16	g.57964168G>A	CA495650576	CNGB1	c.252C>T (p.Ser84=) n.310C>T	ClinVar dbSNP gnomAD v4 COSMIC
16	g.57964168G>C	CA495650577	CNGB1	c.252C>G (p.Ser84=) n.310C>G
16	g.57964168G=	CA2224857261	CNGB1	c.252C= (p.Ser84=) n.310C=
16	g.57964168G>T	CA495650578	CNGB1	c.252C>A (p.Ser84=) n.310C>A
16	g.57964169G>A	CA396080133	CNGB1	c.251C>T (p.Ser84Phe) n.309C>T
16	g.57964169G>C	CA396080135	CNGB1	c.251C>G (p.Ser84Cys) n.309C>G
16	g.57964169G>T	CA396080137	CNGB1	c.251C>A (p.Ser84Tyr) n.309C>A
16	g.57964170A=	CA2224857262	CNGB1	c.250T= (p.Ser84=) n.308T=
16	g.57964170A>C	CA396080144	CNGB1	c.250T>G (p.Ser84Ala) n.308T>G
16	g.57964170A>G	CA8083932	CNGB1	c.250T>C (p.Ser84Pro) n.308T>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.57964170A>T	CA396080139	CNGB1	c.250T>A (p.Ser84Thr) n.308T>A

Number of alleles fetched