Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.54626399A>C	CA370994020	RP1	c.2517A>C (p.Gln839His) c.787+4111A>C (n.787+4111A>C) c.2538A>C (p.Gln846His)
8	g.54626399A>G	CA461098931	RP1	c.2517A>G (p.Gln839=) c.787+4111A>G (n.787+4111A>G) c.2538A>G (p.Gln846=)
8	g.54626399A>T	CA370994021	RP1	c.2517A>T (p.Gln839His) c.787+4111A>T (n.787+4111A>T) c.2538A>T (p.Gln846His)
8	g.54626400G>A	CA370994022	RP1	c.2518G>A (p.Ala840Thr) c.787+4112G>A (n.787+4112G>A) c.2539G>A (p.Ala847Thr)
8	g.54626400G>C	CA370994023	RP1	c.2518G>C (p.Ala840Pro) c.787+4112G>C (n.787+4112G>C) c.2539G>C (p.Ala847Pro)
8	g.54626400G>T	CA370994024	RP1	c.2518G>T (p.Ala840Ser) c.787+4112G>T (n.787+4112G>T) c.2539G>T (p.Ala847Ser)
8	g.54626401C>A	CA370994025	RP1	c.2519C>A (p.Ala840Glu) c.787+4113C>A (n.787+4113C>A) c.2540C>A (p.Ala847Glu)
8	g.54626401C>G	CA370994026	RP1	c.2519C>G (p.Ala840Gly) c.787+4113C>G (n.787+4113C>G) c.2540C>G (p.Ala847Gly)
8	g.54626401C>T	CA370994027	RP1	c.2519C>T (p.Ala840Val) c.787+4113C>T (n.787+4113C>T) c.2540C>T (p.Ala847Val)	gnomAD v4
8	g.54626402A=	CA1785188304	RP1	c.2520A= (p.Ala840=) c.787+4114A= (n.787+4114A=) c.2541A= (p.Ala847=)
8	g.54626402A>C	CA461098932	RP1	c.2520A>C (p.Ala840=) c.787+4114A>C (n.787+4114A>C) c.2541A>C (p.Ala847=)
8	g.54626402A>G	CA4751554	RP1	c.2520A>G (p.Ala840=) c.787+4114A>G (n.787+4114A>G) c.2541A>G (p.Ala847=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.54626402A>T	CA461098933	RP1	c.2520A>T (p.Ala840=) c.787+4114A>T (n.787+4114A>T) c.2541A>T (p.Ala847=)
8	g.54626403G>A	CA370994028	RP1	c.2521G>A (p.Glu841Lys) c.787+4115G>A (n.787+4115G>A) c.2542G>A (p.Glu848Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.54626403G>C	CA370994029	RP1	c.2521G>C (p.Glu841Gln) c.787+4115G>C (n.787+4115G>C) c.2542G>C (p.Glu848Gln)
8	g.54626403G=	CA1785188305	RP1	c.2521G= (p.Glu841=) c.787+4115G= (n.787+4115G=) c.2542G= (p.Glu848=)
8	g.54626403G>T	CA370994030	RP1	c.2521G>T (p.Glu841Ter) c.787+4115G>T (n.787+4115G>T) c.2542G>T (p.Glu848Ter)
8	g.54626404A>C	CA370994031	RP1	c.2522A>C (p.Glu841Ala) c.787+4116A>C (n.787+4116A>C) c.2543A>C (p.Glu848Ala)	gnomAD v4
8	g.54626404A>G	CA370994032	RP1	c.2522A>G (p.Glu841Gly) c.787+4116A>G (n.787+4116A>G) c.2543A>G (p.Glu848Gly)
8	g.54626404A>T	CA370994033	RP1	c.2522A>T (p.Glu841Val) c.787+4116A>T (n.787+4116A>T) c.2543A>T (p.Glu848Val)	gnomAD v4
8	g.54626405A=	CA1785188306	RP1	c.2523A= (p.Glu841=) c.787+4117A= (n.787+4117A=) c.2544A= (p.Glu848=)
8	g.54626405A>C	CA370994034	RP1	c.2523A>C (p.Glu841Asp) c.787+4117A>C (n.787+4117A>C) c.2544A>C (p.Glu848Asp)
8	g.54626405A>G	CA4751555	RP1	c.2523A>G (p.Glu841=) c.787+4117A>G (n.787+4117A>G) c.2544A>G (p.Glu848=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.54626405A>T	CA370994035	RP1	c.2523A>T (p.Glu841Asp) c.787+4117A>T (n.787+4117A>T) c.2544A>T (p.Glu848Asp)
8	g.54626406G>A	CA10631271	RP1	c.2524G>A (p.Val842Met) c.787+4118G>A (n.787+4118G>A) c.2545G>A (p.Val849Met)	ClinVar dbSNP gnomAD v4
8	g.54626406G>C	CA370994036	RP1	c.2524G>C (p.Val842Leu) c.787+4118G>C (n.787+4118G>C) c.2545G>C (p.Val849Leu)
8	g.54626406G=	CA1785188307	RP1	c.2524G= (p.Val842=) c.787+4118G= (n.787+4118G=) c.2545G= (p.Val849=)
8	g.54626406G>T	CA370994037	RP1	c.2524G>T (p.Val842Leu) c.787+4118G>T (n.787+4118G>T) c.2545G>T (p.Val849Leu)
8	g.54626407T>A	CA370994040	RP1	c.2525T>A (p.Val842Glu) c.787+4119T>A (n.787+4119T>A) c.2546T>A (p.Val849Glu)
8	g.54626407T>C	CA370994039	RP1	c.2525T>C (p.Val842Ala) c.787+4119T>C (n.787+4119T>C) c.2546T>C (p.Val849Ala)	gnomAD v4
8	g.54626407T>G	CA370994038	RP1	c.2525T>G (p.Val842Gly) c.787+4119T>G (n.787+4119T>G) c.2546T>G (p.Val849Gly)	dbSNP
8	g.54626407T=	CA1785188308	RP1	c.2525T= (p.Val842=) c.787+4119T= (n.787+4119T=) c.2546T= (p.Val849=)
8	g.54626408G>A	CA461098935	RP1	c.2526G>A (p.Val842=) c.787+4120G>A (n.787+4120G>A) c.2547G>A (p.Val849=)
8	g.54626408G>C	CA461098936	RP1	c.2526G>C (p.Val842=) c.787+4120G>C (n.787+4120G>C) c.2547G>C (p.Val849=)
8	g.54626408G>T	CA461098934	RP1	c.2526G>T (p.Val842=) c.787+4120G>T (n.787+4120G>T) c.2547G>T (p.Val849=)
8	g.54626409G>A	CA370994041	RP1	c.2527G>A (p.Ala843Thr) c.787+4121G>A (n.787+4121G>A) c.2548G>A (p.Ala850Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.54626409G>C	CA370994043	RP1	c.2527G>C (p.Ala843Pro) c.787+4121G>C (n.787+4121G>C) c.2548G>C (p.Ala850Pro)
8	g.54626409G=	CA1785188309	RP1	c.2527G= (p.Ala843=) c.787+4121G= (n.787+4121G=) c.2548G= (p.Ala850=)
8	g.54626409G>T	CA370994042	RP1	c.2527G>T (p.Ala843Ser) c.787+4121G>T (n.787+4121G>T) c.2548G>T (p.Ala850Ser)
8	g.54626410C>A	CA370994044	RP1	c.2528C>A (p.Ala843Glu) c.787+4122C>A (n.787+4122C>A) c.2549C>A (p.Ala850Glu)
8	g.54626410C>G	CA370994045	RP1	c.2528C>G (p.Ala843Gly) c.787+4122C>G (n.787+4122C>G) c.2549C>G (p.Ala850Gly)
8	g.54626410C>T	CA370994046	RP1	c.2528C>T (p.Ala843Val) c.787+4122C>T (n.787+4122C>T) c.2549C>T (p.Ala850Val)
8	g.54626411A=	CA1785188310	RP1	c.2529A= (p.Ala843=) c.787+4123A= (n.787+4123A=) c.2550A= (p.Ala850=)
8	g.54626411A>C	CA4751556	RP1	c.2529A>C (p.Ala843=) c.787+4123A>C (n.787+4123A>C) c.2550A>C (p.Ala850=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.54626411A>G	CA461098937	RP1	c.2529A>G (p.Ala843=) c.787+4123A>G (n.787+4123A>G) c.2550A>G (p.Ala850=)
8	g.54626411A>T	CA177237229	RP1	c.2529A>T (p.Ala843=) c.787+4123A>T (n.787+4123A>T) c.2550A>T (p.Ala850=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.54626412T>A	CA370994047	RP1	c.2530T>A (p.Ser844Thr) c.787+4124T>A (n.787+4124T>A) c.2551T>A (p.Ser851Thr)
8	g.54626412T>C	CA370994048	RP1	c.2530T>C (p.Ser844Pro) c.787+4124T>C (n.787+4124T>C) c.2551T>C (p.Ser851Pro)
8	g.54626412T>G	CA370994049	RP1	c.2530T>G (p.Ser844Ala) c.787+4124T>G (n.787+4124T>G) c.2551T>G (p.Ser851Ala)
8	g.54626413C>A	CA370994050	RP1	c.2531C>A (p.Ser844Tyr) c.787+4125C>A (n.787+4125C>A) c.2552C>A (p.Ser851Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched