Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.79493541_79493542delinsAT	CA1640630094	LCA5	c.858+71_858+72delinsAT (n.858+71_858+72delinsAT)
6	g.79493542T>G	CA828500450	LCA5	c.858+71A>C (n.858+71A>C)	dbSNP gnomAD v3 gnomAD v4
6	g.79493542T=	CA1640630095	LCA5	c.858+71A= (n.858+71A=)
6	g.79493544del	CA1640630096	LCA5	c.858+71del (n.858+71del)	dbSNP
6	g.79493543T>C	CA2679482318	LCA5	c.858+70A>G (n.858+70A>G)	gnomAD v4
6	g.79493544T>C	CA1640630097	LCA5	c.858+69A>G (n.858+69A>G)	dbSNP
6	g.79493544T=	CA1640630098	LCA5	c.858+69A= (n.858+69A=)
6	g.79493545A>T	CA2679482319	LCA5	c.858+68T>A (n.858+68T>A)	gnomAD v4
6	g.79493546G>T	CA2679482320	LCA5	c.858+67C>A (n.858+67C>A)	gnomAD v4
6	g.79493547T>G	CA2679482321	LCA5	c.858+66A>C (n.858+66A>C)	gnomAD v4
6	g.79493548G>A	CA828500451	LCA5	c.858+65C>T (n.858+65C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.79493548G=	CA1640630099	LCA5	c.858+65C= (n.858+65C=)
6	g.79493548G>T	CA2679482322	LCA5	c.858+65C>A (n.858+65C>A)	gnomAD v4
6	g.79493552del	CA2679482323	LCA5	c.858+64del (n.858+64del)	gnomAD v4
6	g.79493551T>C	CA2578676745	LCA5	c.858+62A>G (n.858+62A>G)
6	g.79493551T>G	CA1640630101	LCA5	c.858+62A>C (n.858+62A>C)	dbSNP gnomAD v3 gnomAD v4
6	g.79493551T=	CA1640630100	LCA5	c.858+62A= (n.858+62A=)
6	g.79493552T>C	CA2679482324	LCA5	c.858+61A>G (n.858+61A>G)	gnomAD v4
6	g.79493554A>T	CA2679482325	LCA5	c.858+59T>A (n.858+59T>A)	gnomAD v4
6	g.79493556A>C	CA2679482326	LCA5	c.858+57T>G (n.858+57T>G)	gnomAD v4
6	g.79493557T>C	CA2679482327	LCA5	c.858+56A>G (n.858+56A>G)	gnomAD v4
6	g.79493558A>T	CA2679482328	LCA5	c.858+55T>A (n.858+55T>A)	gnomAD v4
6	g.79493559T>C	CA1640630103	LCA5	c.858+54A>G (n.858+54A>G)	dbSNP gnomAD v4
6	g.79493559T=	CA1640630102	LCA5	c.858+54A= (n.858+54A=)
6	g.79493561del	CA2679482329	LCA5	c.858+54del (n.858+54del)	gnomAD v4
6	g.79493560T>C	CA2578676746	LCA5	c.858+53A>G (n.858+53A>G)
6	g.79493561T>C	CA2679482330	LCA5	c.858+52A>G (n.858+52A>G)	gnomAD v4
6	g.79493561T>G	CA568279884	LCA5	c.858+52A>C (n.858+52A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493561T=	CA1640630104	LCA5	c.858+52A= (n.858+52A=)
6	g.79493562A>T	CA2679482331	LCA5	c.858+51T>A (n.858+51T>A)	gnomAD v4
6	g.79493566T>G	CA650785843	LCA5	c.858+47A>C (n.858+47A>C)	COSMIC
6	g.79493568C=	CA1640630105	LCA5	c.858+45G= (n.858+45G=)
6	g.79493568C>T	CA3901002	LCA5	c.858+45G>A (n.858+45G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493569G>A	CA3901003	LCA5	c.858+44C>T (n.858+44C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493569G>C	CA1640630107	LCA5	c.858+44C>G (n.858+44C>G)	dbSNP
6	g.79493569G=	CA1640630106	LCA5	c.858+44C= (n.858+44C=)
6	g.79493569G>T	CA2578676747	LCA5	c.858+44C>A (n.858+44C>A)	gnomAD v4
6	g.79493572T>C	CA2578676748	LCA5	c.858+41A>G (n.858+41A>G)	gnomAD v4
6	g.79493575T>C	CA828500453	LCA5	c.858+38A>G (n.858+38A>G)	dbSNP gnomAD v4
6	g.79493575T=	CA1640630108	LCA5	c.858+38A= (n.858+38A=)
6	g.79493577C>T	CA1090933090	LCA5	c.858+36G>A (n.858+36G>A)	gnomAD v3 gnomAD v4
6	g.79493579C>A	CA2508477155	LCA5	c.858+34G>T (n.858+34G>T)
6	g.79493579C=	CA1640630109	LCA5	c.858+34G= (n.858+34G=)
6	g.79493579C>T	CA141864414	LCA5	c.858+34G>A (n.858+34G>A)	dbSNP
6	g.79493582T>G	CA3901004	LCA5	c.858+31A>C (n.858+31A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493582T=	CA1640630110	LCA5	c.858+31A= (n.858+31A=)
6	g.79493584T>C	CA3901005	LCA5	c.858+29A>G (n.858+29A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493584T=	CA1640630111	LCA5	c.858+29A= (n.858+29A=)
6	g.79493585G=	CA1640630112	LCA5	c.858+28C= (n.858+28C=)
6	g.79493585G>T	CA1090933096	LCA5	c.858+28C>A (n.858+28C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.79493586G>A	CA2578676749	LCA5	c.858+27C>T (n.858+27C>T)
6	g.79493586G>T	CA2679482332	LCA5	c.858+27C>A (n.858+27C>A)	gnomAD v4
6	g.79493587A=	CA1640630113	LCA5	c.858+26T= (n.858+26T=)
6	g.79493587A>G	CA3901006	LCA5	c.858+26T>C (n.858+26T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493592A>G	CA2679482333	LCA5	c.858+21T>C (n.858+21T>C)	gnomAD v4
6	g.79493593A=	CA1640630114	LCA5	c.858+20T= (n.858+20T=)
6	g.79493593A>T	CA1640630115	LCA5	c.858+20T>A (n.858+20T>A)	dbSNP gnomAD v4
6	g.79493594T>C	CA1640630116	LCA5	c.858+19A>G (n.858+19A>G)	ClinVar dbSNP gnomAD v4
6	g.79493594T=	CA1640630117	LCA5	c.858+19A= (n.858+19A=)
6	g.79493595G>A	CA2739273264	LCA5	c.858+18C>T (n.858+18C>T)	ClinVar
6	g.79493598A=	CA1640630118	LCA5	c.858+15T= (n.858+15T=)
6	g.79493598A>G	CA3901007	LCA5	c.858+15T>C (n.858+15T>C)	dbSNP ExAC gnomAD v2
6	g.79493599T>A	CA2580075894	LCA5	c.858+14A>T (n.858+14A>T)	ClinVar
6	g.79493599T>C	CA828500460	LCA5	c.858+14A>G (n.858+14A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.79493599T=	CA1640630119	LCA5	c.858+14A= (n.858+14A=)
6	g.79493602A=	CA1640630120	LCA5	c.858+11T= (n.858+11T=)
6	g.79493602A>G	CA1090933116	LCA5	c.858+11T>C (n.858+11T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.79493603A>G	CA2580075895	LCA5	c.858+10T>C (n.858+10T>C)	ClinVar gnomAD v4
6	g.79493605A=	CA1640630122	LCA5	c.858+8T= (n.858+8T=)
6	g.79493605A>G	CA828500471	LCA5	c.858+8T>C (n.858+8T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.79493605_79493609delinsATACT	CA1640630121	LCA5	c.858+4_858+8delinsAGTAT (n.858+4_858+8delinsAGTAT)
6	g.79493606T>A	CA3901009	LCA5	c.858+7A>T (n.858+7A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493606T>C	CA828500477	LCA5	c.858+7A>G (n.858+7A>G)	dbSNP
6	g.79493606T=	CA1640630123	LCA5	c.858+7A= (n.858+7A=)
6	g.79493606_79493610dup	CA2739273265	LCA5	c.858+3_858+7dup (n.858+3_858+7dup)	ClinVar
6	g.79493609_79493612del	CA3901008	LCA5	c.858+4_858+7del (n.858+4_858+7del)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493607A=	CA1640630124	LCA5	c.858+6T= (n.858+6T=)
6	g.79493607A>C	CA1090933122	LCA5	c.858+6T>G (n.858+6T>G)	dbSNP gnomAD v3 gnomAD v4
6	g.79493607A>G	CA1640630125	LCA5	c.858+6T>C (n.858+6T>C)	dbSNP gnomAD v4
6	g.79493607A>T	CA2771848654	LCA5	c.858+6T>A (n.858+6T>A)
6	g.79493608C=	CA1640630126	LCA5	c.858+5G= (n.858+5G=)
6	g.79493608C>G	CA3901010	LCA5	c.858+5G>C (n.858+5G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493608C>T	CA141864439	LCA5	c.858+5G>A (n.858+5G>A)	ClinVar dbSNP gnomAD v4
6	g.79493610T>G	CA2679482334	LCA5	c.858+3A>C (n.858+3A>C)	gnomAD v4
6	g.79493611A>C	CA364645188	LCA5	c.858+2T>G (n.858+2T>G)
6	g.79493611A>G	CA364645189	LCA5	c.858+2T>C (n.858+2T>C)
6	g.79493611A>T	CA364645190	LCA5	c.858+2T>A (n.858+2T>A)
6	g.79493611_79493612delinsAC	CA1640630127	LCA5	c.858+1_858+2delinsGT (n.858+1_858+2delinsGT)
6	g.79493612C>A	CA364645191	LCA5	c.858+1G>T (n.858+1G>T)	gnomAD v4
6	g.79493612C=	CA1640630128	LCA5	c.858+1G= (n.858+1G=)
6	g.79493612C>G	CA3901011	LCA5	c.858+1G>C (n.858+1G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493612C>T	CA364645192	LCA5	c.858+1G>A (n.858+1G>A)
6	g.79493613del	CA141864443	LCA5	c.858+1del	dbSNP
6	g.79493613C>A	CA364645193	LCA5	c.858G>T (p.Lys286Asn)	gnomAD v4
6	g.79493613C>G	CA364645194	LCA5	c.858G>C (p.Lys286Asn)
6	g.79493613C>T	CA451011892	LCA5	c.858G>A (p.Lys286=)
6	g.79493614T>A	CA364645195	LCA5	c.857A>T (p.Lys286Met)
6	g.79493614T>C	CA364645196	LCA5	c.857A>G (p.Lys286Arg)	gnomAD v4
6	g.79493614T>G	CA364645197	LCA5	c.857A>C (p.Lys286Thr)
6	g.79493615T>A	CA364645200	LCA5	c.856A>T (p.Lys286Ter)
6	g.79493615T>C	CA364645198	LCA5	c.856A>G (p.Lys286Glu)	dbSNP gnomAD v4
6	g.79493615T>G	CA364645199	LCA5	c.856A>C (p.Lys286Gln)
6	g.79493615T=	CA1640630129	LCA5	c.856A= (p.Lys286=)
6	g.79493616T>A	CA364645201	LCA5	c.855A>T (p.Leu285Phe)
6	g.79493616T>C	CA451011911	LCA5	c.855A>G (p.Leu285=)
6	g.79493616T>G	CA364645202	LCA5	c.855A>C (p.Leu285Phe)
6	g.79493617A>C	CA364645203	LCA5	c.854T>G (p.Leu285Ter)
6	g.79493617A>G	CA364645204	LCA5	c.854T>C (p.Leu285Ser)
6	g.79493617A>T	CA364645205	LCA5	c.854T>A (p.Leu285Ter)
6	g.79493618A>C	CA364645206	LCA5	c.853T>G (p.Leu285Val)	gnomAD v4
6	g.79493618A>G	CA451011922	LCA5	c.853T>C (p.Leu285=)
6	g.79493618A>T	CA364645207	LCA5	c.853T>A (p.Leu285Ile)
6	g.79493619T>A	CA364645208	LCA5	c.852A>T (p.Lys284Asn)
6	g.79493619T>C	CA451011952	LCA5	c.852A>G (p.Lys284=)	gnomAD v4
6	g.79493619T>G	CA364645209	LCA5	c.852A>C (p.Lys284Asn)
6	g.79493620T>A	CA364645210	LCA5	c.851A>T (p.Lys284Ile)
6	g.79493620T>C	CA364645211	LCA5	c.851A>G (p.Lys284Arg)
6	g.79493620T>G	CA364645212	LCA5	c.851A>C (p.Lys284Thr)
6	g.79493621T>A	CA364645215	LCA5	c.850A>T (p.Lys284Ter)
6	g.79493621T>C	CA364645214	LCA5	c.850A>G (p.Lys284Glu)
6	g.79493621T>G	CA364645213	LCA5	c.850A>C (p.Lys284Gln)
6	g.79493622G>A	CA451011977	LCA5	c.849C>T (p.His283=)
6	g.79493622G>C	CA364645216	LCA5	c.849C>G (p.His283Gln)
6	g.79493622G>T	CA364645217	LCA5	c.849C>A (p.His283Gln)
6	g.79493623T>A	CA364645218	LCA5	c.848A>T (p.His283Leu)
6	g.79493623T>C	CA364645219	LCA5	c.848A>G (p.His283Arg)
6	g.79493623T>G	CA364645220	LCA5	c.848A>C (p.His283Pro)
6	g.79493624G>A	CA364645221	LCA5	c.847C>T (p.His283Tyr)
6	g.79493624G>C	CA364645222	LCA5	c.847C>G (p.His283Asp)
6	g.79493624G>T	CA364645223	LCA5	c.847C>A (p.His283Asn)
6	g.79493625A>C	CA364645224	LCA5	c.846T>G (p.Tyr282Ter)
6	g.79493625A>G	CA451011985	LCA5	c.846T>C (p.Tyr282=)
6	g.79493625A>T	CA364645225	LCA5	c.846T>A (p.Tyr282Ter)
6	g.79493626T>A	CA364645226	LCA5	c.845A>T (p.Tyr282Phe)
6	g.79493626T>C	CA3901012	LCA5	c.845A>G (p.Tyr282Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493626T>G	CA364645227	LCA5	c.845A>C (p.Tyr282Ser)
6	g.79493626T=	CA1640630130	LCA5	c.845A= (p.Tyr282=)
6	g.79493627A>C	CA364645230	LCA5	c.844T>G (p.Tyr282Asp)
6	g.79493627A>G	CA364645229	LCA5	c.844T>C (p.Tyr282His)
6	g.79493627A>T	CA364645228	LCA5	c.844T>A (p.Tyr282Asn)
6	g.79493628T>A	CA451011999	LCA5	c.843A>T (p.Leu281=)
6	g.79493628T>C	CA141864457	LCA5	c.843A>G (p.Leu281=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493628T>G	CA451012004	LCA5	c.843A>C (p.Leu281=)
6	g.79493628T=	CA1640630131	LCA5	c.843A= (p.Leu281=)
6	g.79493629A>C	CA364645231	LCA5	c.842T>G (p.Leu281Arg)
6	g.79493629A>G	CA364645232	LCA5	c.842T>C (p.Leu281Pro)
6	g.79493629A>T	CA364645233	LCA5	c.842T>A (p.Leu281Gln)
6	g.79493630G>A	CA451012008	LCA5	c.841C>T (p.Leu281=)
6	g.79493630G>C	CA364645234	LCA5	c.841C>G (p.Leu281Val)	gnomAD v4
6	g.79493630G>T	CA364645235	LCA5	c.841C>A (p.Leu281Ile)
6	g.79493631T>A	CA451012013	LCA5	c.840A>T (p.Arg280=)
6	g.79493631T>C	CA451012015	LCA5	c.840A>G (p.Arg280=)
6	g.79493631T>G	CA451012017	LCA5	c.840A>C (p.Arg280=)	ClinVar dbSNP
6	g.79493631_79493632del	CA2500396824	LCA5	c.839_840del (p.Arg280ProfsTer20)
6	g.79493632C>A	CA364645236	LCA5	c.839G>T (p.Arg280Leu)
6	g.79493632C=	CA1640630132	LCA5	c.839G= (p.Arg280=)
6	g.79493632C>G	CA364645237	LCA5	c.839G>C (p.Arg280Pro)
6	g.79493632C>T	CA3901013	LCA5	c.839G>A (p.Arg280Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.79493633G>A	CA141864468	LCA5	c.838C>T (p.Arg280Ter)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.79493633G>C	CA364645238	LCA5	c.838C>G (p.Arg280Gly)
6	g.79493633G=	CA1640630133	LCA5	c.838C= (p.Arg280=)
6	g.79493633G>T	CA451012021	LCA5	c.838C>A (p.Arg280=)
6	g.79493634C>A	CA364645239	LCA5	c.837G>T (p.Gln279His)
6	g.79493634C=	CA1640630134	LCA5	c.837G= (p.Gln279=)
6	g.79493634C>G	CA364645240	LCA5	c.837G>C (p.Gln279His)
6	g.79493634C>T	CA451012028	LCA5	c.837G>A (p.Gln279=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493635T>A	CA3901014	LCA5	c.836A>T (p.Gln279Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493635T>C	CA364645242	LCA5	c.836A>G (p.Gln279Arg)	dbSNP
6	g.79493635T>G	CA364645241	LCA5	c.836A>C (p.Gln279Pro)
6	g.79493635T=	CA1640630135	LCA5	c.836A= (p.Gln279=)
6	g.79493635_79493636insCATGATGAAAATAAAGTTCTTCAAAAGGAG	CA2517812749	LCA5	c.835_836insCTCCTTTTGAAGAACTTTATTTTCATCATG (p.Gln279delinsProProPheGluGluLeuTyrPheHisHisGlu)
6	g.79493636G>A	CA204615	LCA5	c.835C>T (p.Gln279Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493636G>C	CA364645243	LCA5	c.835C>G (p.Gln279Glu)
6	g.79493636G=	CA1640630136	LCA5	c.835C= (p.Gln279=)
6	g.79493636G>T	CA364645244	LCA5	c.835C>A (p.Gln279Lys)
6	g.79493637T>A	CA451012051	LCA5	c.834A>T (p.Val278=)
6	g.79493637T>C	CA451012059	LCA5	c.834A>G (p.Val278=)	ClinVar dbSNP
6	g.79493637T>G	CA451012060	LCA5	c.834A>C (p.Val278=)
6	g.79493638A>C	CA364645245	LCA5	c.833T>G (p.Val278Gly)
6	g.79493638A>G	CA364645246	LCA5	c.833T>C (p.Val278Ala)
6	g.79493638A>T	CA364645247	LCA5	c.833T>A (p.Val278Glu)
6	g.79493639C>A	CA364645248	LCA5	c.832G>T (p.Val278Leu)	gnomAD v4
6	g.79493639C>G	CA364645249	LCA5	c.832G>C (p.Val278Leu)	gnomAD v4
6	g.79493639C>T	CA364645250	LCA5	c.832G>A (p.Val278Ile)	gnomAD v4
6	g.79493640C>A	CA364645251	LCA5	c.831G>T (p.Glu277Asp)	dbSNP
6	g.79493640C=	CA1640630137	LCA5	c.831G= (p.Glu277=)
6	g.79493640C>G	CA364645252	LCA5	c.831G>C (p.Glu277Asp)	gnomAD v4
6	g.79493640C>T	CA451012082	LCA5	c.831G>A (p.Glu277=)
6	g.79493641T>A	CA3901015	LCA5	c.830A>T (p.Glu277Val)	dbSNP ExAC
6	g.79493641T>C	CA364645254	LCA5	c.830A>G (p.Glu277Gly)	gnomAD v4
6	g.79493641T>G	CA364645253	LCA5	c.830A>C (p.Glu277Ala)
6	g.79493641T=	CA1640630138	LCA5	c.830A= (p.Glu277=)

Number of alleles fetched