Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.93658931T>A	CA377624651	PDE6C	c.2067T>A (p.Asp689Glu)	dbSNP gnomAD v3 gnomAD v4
10	g.93658931T>C	CA470794502	PDE6C	c.2067T>C (p.Asp689=)	gnomAD v4
10	g.93658931T>G	CA377624653	PDE6C	c.2067T>G (p.Asp689Glu)
10	g.93658931T=	CA1928721757	PDE6C	c.2067T= (p.Asp689=)
10	g.93658932G>A	CA5610390	PDE6C	c.2068G>A (p.Ala690Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658932G>C	CA377624661	PDE6C	c.2068G>C (p.Ala690Pro)
10	g.93658932G=	CA1928721758	PDE6C	c.2068G= (p.Ala690=)
10	g.93658932G>T	CA377624664	PDE6C	c.2068G>T (p.Ala690Ser)
10	g.93658933C>A	CA377624668	PDE6C	c.2069C>A (p.Ala690Asp)
10	g.93658933C=	CA1928721759	PDE6C	c.2069C= (p.Ala690=)
10	g.93658933C>G	CA377624671	PDE6C	c.2069C>G (p.Ala690Gly)
10	g.93658933C>T	CA5610391	PDE6C	c.2069C>T (p.Ala690Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658934C>A	CA470794505	PDE6C	c.2070C>A (p.Ala690=)
10	g.93658934C>G	CA470794504	PDE6C	c.2070C>G (p.Ala690=)
10	g.93658934C>T	CA470794503	PDE6C	c.2070C>T (p.Ala690=)
10	g.93658935T>A	CA377624679	PDE6C	c.2071T>A (p.Cys691Ser)
10	g.93658935T>C	CA377624683	PDE6C	c.2071T>C (p.Cys691Arg)
10	g.93658935T>G	CA377624677	PDE6C	c.2071T>G (p.Cys691Gly)
10	g.93658936G>A	CA5610392	PDE6C	c.2072G>A (p.Cys691Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658936G>C	CA377624687	PDE6C	c.2072G>C (p.Cys691Ser)
10	g.93658936G=	CA1928721760	PDE6C	c.2072G= (p.Cys691=)
10	g.93658936G>T	CA377624688	PDE6C	c.2072G>T (p.Cys691Phe)
10	g.93658937T>A	CA377624690	PDE6C	c.2073T>A (p.Cys691Ter)
10	g.93658937T>C	CA470794506	PDE6C	c.2073T>C (p.Cys691=)	gnomAD v4
10	g.93658937T>G	CA377624691	PDE6C	c.2073T>G (p.Cys691Trp)
10	g.93658938G>A	CA377624694	PDE6C	c.2074G>A (p.Glu692Lys)
10	g.93658938G>C	CA377624696	PDE6C	c.2074G>C (p.Glu692Gln)
10	g.93658938G>T	CA377624697	PDE6C	c.2074G>T (p.Glu692Ter)	gnomAD v4
10	g.93658939A>C	CA377624700	PDE6C	c.2075A>C (p.Glu692Ala)
10	g.93658939A>G	CA377624702	PDE6C	c.2075A>G (p.Glu692Gly)
10	g.93658939A>T	CA377624704	PDE6C	c.2075A>T (p.Glu692Val)
10	g.93658940A>C	CA377624707	PDE6C	c.2076A>C (p.Glu692Asp)
10	g.93658940A>G	CA470794507	PDE6C	c.2076A>G (p.Glu692=)
10	g.93658940A>T	CA377624708	PDE6C	c.2076A>T (p.Glu692Asp)
10	g.93658941C>A	CA377624715	PDE6C	c.2077C>A (p.Gln693Lys)
10	g.93658941C=	CA1928721761	PDE6C	c.2077C= (p.Gln693=)
10	g.93658941C>G	CA377624713	PDE6C	c.2077C>G (p.Gln693Glu)
10	g.93658941C>T	CA377624711	PDE6C	c.2077C>T (p.Gln693Ter)	dbSNP gnomAD v3 gnomAD v4
10	g.93658942A>C	CA377624717	PDE6C	c.2078A>C (p.Gln693Pro)
10	g.93658942A>G	CA377624719	PDE6C	c.2078A>G (p.Gln693Arg)	COSMIC
10	g.93658942A>T	CA377624721	PDE6C	c.2078A>T (p.Gln693Leu)
10	g.93658943A=	CA1928721762	PDE6C	c.2079A= (p.Gln693=)
10	g.93658943A>C	CA377624723	PDE6C	c.2079A>C (p.Gln693His)
10	g.93658943A>G	CA470794508	PDE6C	c.2079A>G (p.Gln693=)
10	g.93658943A>T	CA377624725	PDE6C	c.2079A>T (p.Gln693His)	dbSNP gnomAD v3 gnomAD v4
10	g.93658944A=	CA1928721763	PDE6C	c.2080A= (p.Met694=)
10	g.93658944A>C	CA377624727	PDE6C	c.2080A>C (p.Met694Leu)
10	g.93658944A>G	CA5610393	PDE6C	c.2080A>G (p.Met694Val)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658944A>T	CA377624730	PDE6C	c.2080A>T (p.Met694Leu)
10	g.93658945T>A	CA377624732	PDE6C	c.2081T>A (p.Met694Lys)
10	g.93658945T>C	CA377624735	PDE6C	c.2081T>C (p.Met694Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.93658945T>G	CA377624736	PDE6C	c.2081T>G (p.Met694Arg)	dbSNP
10	g.93658945T=	CA1928721764	PDE6C	c.2081T= (p.Met694=)
10	g.93658946G>A	CA222911	PDE6C	c.2082G>A (p.Met694Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658946G>C	CA377624740	PDE6C	c.2082G>C (p.Met694Ile)
10	g.93658946G=	CA1928721765	PDE6C	c.2082G= (p.Met694=)
10	g.93658946G>T	CA377624742	PDE6C	c.2082G>T (p.Met694Ile)
10	g.93658947C>A	CA377624746	PDE6C	c.2083C>A (p.Gln695Lys)
10	g.93658947C>G	CA377624748	PDE6C	c.2083C>G (p.Gln695Glu)
10	g.93658947C>T	CA377624743	PDE6C	c.2083C>T (p.Gln695Ter)
10	g.93658948A>C	CA377624750	PDE6C	c.2084A>C (p.Gln695Pro)
10	g.93658948A>G	CA377624754	PDE6C	c.2084A>G (p.Gln695Arg)
10	g.93658948A>T	CA377624756	PDE6C	c.2084A>T (p.Gln695Leu)
10	g.93658949A>C	CA377624758	PDE6C	c.2085A>C (p.Gln695His)
10	g.93658949A>G	CA470794509	PDE6C	c.2085A>G (p.Gln695=)
10	g.93658949A>T	CA377624760	PDE6C	c.2085A>T (p.Gln695His)
10	g.93658950A>C	CA377624763	PDE6C	c.2086A>C (p.Thr696Pro)
10	g.93658950A>G	CA377624765	PDE6C	c.2086A>G (p.Thr696Ala)
10	g.93658950A>T	CA377624767	PDE6C	c.2086A>T (p.Thr696Ser)
10	g.93658951C>A	CA377624769	PDE6C	c.2087C>A (p.Thr696Lys)
10	g.93658951C=	CA1928721766	PDE6C	c.2087C= (p.Thr696=)
10	g.93658951C>G	CA377624771	PDE6C	c.2087C>G (p.Thr696Arg)	dbSNP gnomAD v2 gnomAD v4
10	g.93658951C>T	CA5610394	PDE6C	c.2087C>T (p.Thr696Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658952G>A	CA5610395	PDE6C	c.2088G>A (p.Thr696=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658952G>C	CA470794510	PDE6C	c.2088G>C (p.Thr696=)
10	g.93658952G=	CA1928721767	PDE6C	c.2088G= (p.Thr696=)
10	g.93658952G>T	CA470794511	PDE6C	c.2088G>T (p.Thr696=)
10	g.93658953del	CA2610212091	PDE6C	c.2089del (p.Glu697LysfsTer8)	gnomAD v4
10	g.93658952_93658955delinsGGAA	CA1928721768	PDE6C	c.2088_2091delinsGGAA (p.Thr696=)
10	g.93658953G>A	CA377624781	PDE6C	c.2089G>A (p.Glu697Lys)
10	g.93658953G>C	CA5610397	PDE6C	c.2089G>C (p.Glu697Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658953G=	CA1928721769	PDE6C	c.2089G= (p.Glu697=)
10	g.93658953G>T	CA377624777	PDE6C	c.2089G>T (p.Glu697Ter)
10	g.93658960_93658962dup	CA1928721770	PDE6C	c.2096_2098dup (p.Glu699_Ala700insGlu)	dbSNP
10	g.93658960_93658962del	CA5610396	PDE6C	c.2096_2098del (p.Glu699del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658954A>C	CA377624783	PDE6C	c.2090A>C (p.Glu697Ala)
10	g.93658954A>G	CA377624784	PDE6C	c.2090A>G (p.Glu697Gly)
10	g.93658954A>T	CA377624785	PDE6C	c.2090A>T (p.Glu697Val)
10	g.93658955A>C	CA377624786	PDE6C	c.2091A>C (p.Glu697Asp)
10	g.93658955A>G	CA470794512	PDE6C	c.2091A>G (p.Glu697=)	gnomAD v4
10	g.93658955A>T	CA377624787	PDE6C	c.2091A>T (p.Glu697Asp)
10	g.93658956G>A	CA377624788	PDE6C	c.2092G>A (p.Glu698Lys)
10	g.93658956G>C	CA377624789	PDE6C	c.2092G>C (p.Glu698Gln)	gnomAD v4
10	g.93658956G>T	CA377624790	PDE6C	c.2092G>T (p.Glu698Ter)
10	g.93658957A>C	CA377624791	PDE6C	c.2093A>C (p.Glu698Ala)
10	g.93658957A>G	CA377624792	PDE6C	c.2093A>G (p.Glu698Gly)
10	g.93658957A>T	CA377624793	PDE6C	c.2093A>T (p.Glu698Val)
10	g.93658958A>C	CA377624795	PDE6C	c.2094A>C (p.Glu698Asp)	ClinVar dbSNP
10	g.93658958A>G	CA470794513	PDE6C	c.2094A>G (p.Glu698=)
10	g.93658958A>T	CA377624794	PDE6C	c.2094A>T (p.Glu698Asp)
10	g.93658959G>A	CA377624796	PDE6C	c.2095G>A (p.Glu699Lys)
10	g.93658959G>C	CA377624798	PDE6C	c.2095G>C (p.Glu699Gln)	gnomAD v4
10	g.93658959G>T	CA377624797	PDE6C	c.2095G>T (p.Glu699Ter)	gnomAD v4
10	g.93658960A=	CA1928721771	PDE6C	c.2096A= (p.Glu699=)
10	g.93658960A>C	CA5610398	PDE6C	c.2096A>C (p.Glu699Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658960A>G	CA377624800	PDE6C	c.2096A>G (p.Glu699Gly)
10	g.93658960A>T	CA377624799	PDE6C	c.2096A>T (p.Glu699Val)
10	g.93658961A=	CA1928721772	PDE6C	c.2097A= (p.Glu699=)
10	g.93658961A>C	CA377624801	PDE6C	c.2097A>C (p.Glu699Asp)
10	g.93658961A>G	CA211552239	PDE6C	c.2097A>G (p.Glu699=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658961A>T	CA377624802	PDE6C	c.2097A>T (p.Glu699Asp)
10	g.93658962G>A	CA377624803	PDE6C	c.2098G>A (p.Ala700Thr)	ClinVar dbSNP
10	g.93658962G>C	CA377624804	PDE6C	c.2098G>C (p.Ala700Pro)
10	g.93658962G=	CA1928721774	PDE6C	c.2098G= (p.Ala700=)
10	g.93658962G>T	CA377624805	PDE6C	c.2098G>T (p.Ala700Ser)	gnomAD v4
10	g.93658962_93658963delinsGC	CA1928721773	PDE6C	c.2098_2099delinsGC (p.Ala700=)
10	g.93658963C>A	CA377624806	PDE6C	c.2099C>A (p.Ala700Asp)
10	g.93658963C>G	CA377624807	PDE6C	c.2099C>G (p.Ala700Gly)	ClinVar dbSNP
10	g.93658963C>T	CA377624808	PDE6C	c.2099C>T (p.Ala700Val)
10	g.93658964del	CA5610399	PDE6C	c.2100del (p.Ile701SerfsTer4)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658964C>A	CA470794516	PDE6C	c.2100C>A (p.Ala700=)
10	g.93658964C=	CA1928721775	PDE6C	c.2100C= (p.Ala700=)
10	g.93658964C>G	CA470794517	PDE6C	c.2100C>G (p.Ala700=)
10	g.93658964C>T	CA470794518	PDE6C	c.2100C>T (p.Ala700=)	dbSNP gnomAD v2 gnomAD v4
10	g.93658965A>C	CA377624809	PDE6C	c.2101A>C (p.Ile701Leu)
10	g.93658965A>G	CA377624810	PDE6C	c.2101A>G (p.Ile701Val)
10	g.93658965A>T	CA377624811	PDE6C	c.2101A>T (p.Ile701Phe)
10	g.93658966T>A	CA377624812	PDE6C	c.2102T>A (p.Ile701Asn)
10	g.93658966T>C	CA377624813	PDE6C	c.2102T>C (p.Ile701Thr)	gnomAD v4
10	g.93658966T>G	CA377624814	PDE6C	c.2102T>G (p.Ile701Ser)
10	g.93658967C>A	CA470794519	PDE6C	c.2103C>A (p.Ile701=)
10	g.93658967C>G	CA377624815	PDE6C	c.2103C>G (p.Ile701Met)	COSMIC
10	g.93658967C>T	CA470794520	PDE6C	c.2103C>T (p.Ile701=)	ClinVar
10	g.93658968A>C	CA377624816	PDE6C	c.2104A>C (p.Lys702Gln)
10	g.93658968A>G	CA377624817	PDE6C	c.2104A>G (p.Lys702Glu)
10	g.93658968A>T	CA377624818	PDE6C	c.2104A>T (p.Lys702Ter)
10	g.93658969A>C	CA377624819	PDE6C	c.2105A>C (p.Lys702Thr)
10	g.93658969A>G	CA377624820	PDE6C	c.2105A>G (p.Lys702Arg)
10	g.93658969A>T	CA377624821	PDE6C	c.2105A>T (p.Lys702Ile)
10	g.93658970A>C	CA377624822	PDE6C	c.2106A>C (p.Lys702Asn)
10	g.93658970A>G	CA470794521	PDE6C	c.2106A>G (p.Lys702=)
10	g.93658970A>T	CA377624823	PDE6C	c.2106A>T (p.Lys702Asn)
10	g.93658971T>A	CA377624824	PDE6C	c.2107T>A (p.Tyr703Asn)
10	g.93658971T>C	CA377624825	PDE6C	c.2107T>C (p.Tyr703His)
10	g.93658971T>G	CA377624826	PDE6C	c.2107T>G (p.Tyr703Asp)	gnomAD v4
10	g.93658972A>C	CA377624827	PDE6C	c.2108A>C (p.Tyr703Ser)	gnomAD v4
10	g.93658972A>G	CA377624828	PDE6C	c.2108A>G (p.Tyr703Cys)
10	g.93658972A>T	CA377624829	PDE6C	c.2108A>T (p.Tyr703Phe)
10	g.93658973T>A	CA377624830	PDE6C	c.2109T>A (p.Tyr703Ter)
10	g.93658973T>C	CA5610400	PDE6C	c.2109T>C (p.Tyr703=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658973T>G	CA377624831	PDE6C	c.2109T>G (p.Tyr703Ter)
10	g.93658973T=	CA1928721776	PDE6C	c.2109T= (p.Tyr703=)
10	g.93658974G>A	CA377624832	PDE6C	c.2110G>A (p.Val704Ile)
10	g.93658974G>C	CA377624833	PDE6C	c.2110G>C (p.Val704Leu)
10	g.93658974G>T	CA377624834	PDE6C	c.2110G>T (p.Val704Leu)
10	g.93658975T>A	CA377624835	PDE6C	c.2111T>A (p.Val704Glu)
10	g.93658975T>C	CA377624836	PDE6C	c.2111T>C (p.Val704Ala)	dbSNP gnomAD v3 gnomAD v4
10	g.93658975T>G	CA377624837	PDE6C	c.2111T>G (p.Val704Gly)
10	g.93658975T=	CA1928721777	PDE6C	c.2111T= (p.Val704=)
10	g.93658976A>C	CA470794522	PDE6C	c.2112A>C (p.Val704=)
10	g.93658976A>G	CA470794524	PDE6C	c.2112A>G (p.Val704=)
10	g.93658976A>T	CA470794523	PDE6C	c.2112A>T (p.Val704=)
10	g.93658977A>C	CA377624838	PDE6C	c.2113A>C (p.Thr705Pro)
10	g.93658977A>G	CA377624839	PDE6C	c.2113A>G (p.Thr705Ala)	gnomAD v4
10	g.93658977A>T	CA377624840	PDE6C	c.2113A>T (p.Thr705Ser)
10	g.93658978C>A	CA377624841	PDE6C	c.2114C>A (p.Thr705Asn)
10	g.93658978C>G	CA377624842	PDE6C	c.2114C>G (p.Thr705Ser)
10	g.93658978C>T	CA377624843	PDE6C	c.2114C>T (p.Thr705Ile)
10	g.93658979T>A	CA470794527	PDE6C	c.2115T>A (p.Thr705=)
10	g.93658979T>C	CA470794526	PDE6C	c.2115T>C (p.Thr705=)
10	g.93658979T>G	CA470794525	PDE6C	c.2115T>G (p.Thr705=)
10	g.93658980G>A	CA377624846	PDE6C	c.2116G>A (p.Val706Ile)	dbSNP
10	g.93658980G>C	CA377624845	PDE6C	c.2116G>C (p.Val706Leu)
10	g.93658980G>T	CA377624844	PDE6C	c.2116G>T (p.Val706Phe)
10	g.93658981T>A	CA377624847	PDE6C	c.2117T>A (p.Val706Asp)
10	g.93658981T>C	CA377624848	PDE6C	c.2117T>C (p.Val706Ala)
10	g.93658981T>G	CA377624849	PDE6C	c.2117T>G (p.Val706Gly)
10	g.93658982T>A	CA470794530	PDE6C	c.2118T>A (p.Val706=)
10	g.93658982T>C	CA5610401	PDE6C	c.2118T>C (p.Val706=)	dbSNP ExAC gnomAD v4
10	g.93658982T>G	CA470794529	PDE6C	c.2118T>G (p.Val706=)
10	g.93658982T=	CA1928721778	PDE6C	c.2118T= (p.Val706=)
10	g.93658983G>A	CA377624850	PDE6C	c.2119G>A (p.Asp707Asn)	COSMIC
10	g.93658983G>C	CA377624851	PDE6C	c.2119G>C (p.Asp707His)
10	g.93658983G>T	CA377624852	PDE6C	c.2119G>T (p.Asp707Tyr)
10	g.93658984A>C	CA377624853	PDE6C	c.2120A>C (p.Asp707Ala)
10	g.93658984A>G	CA377624854	PDE6C	c.2120A>G (p.Asp707Gly)
10	g.93658984A>T	CA377624855	PDE6C	c.2120A>T (p.Asp707Val)
10	g.93658985T>A	CA377624856	PDE6C	c.2121T>A (p.Asp707Glu)
10	g.93658985T>C	CA470794531	PDE6C	c.2121T>C (p.Asp707=)
10	g.93658985T>G	CA377624857	PDE6C	c.2121T>G (p.Asp707Glu)
10	g.93658985_93658989delinsTCCAA	CA1928721779	PDE6C	c.2121_2125delinsTCCAA (p.Asp707=)
10	g.93658986C>A	CA377624858	PDE6C	c.2122C>A (p.Pro708Thr)
10	g.93658986C=	CA1928721780	PDE6C	c.2122C= (p.Pro708=)
10	g.93658986C>G	CA377624859	PDE6C	c.2122C>G (p.Pro708Ala)
10	g.93658986C>T	CA377624860	PDE6C	c.2122C>T (p.Pro708Ser)	dbSNP
10	g.93658990_93658993del	CA5610402	PDE6C	c.2126_2129del (p.Thr709ArgfsTer8)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93658987C>A	CA377624863	PDE6C	c.2123C>A (p.Pro708Gln)
10	g.93658987C>G	CA377624861	PDE6C	c.2123C>G (p.Pro708Arg)
10	g.93658987C>T	CA377624862	PDE6C	c.2123C>T (p.Pro708Leu)
10	g.93658988A=	CA1928721781	PDE6C	c.2124A= (p.Pro708=)
10	g.93658988A>C	CA5610403	PDE6C	c.2124A>C (p.Pro708=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658988A>G	CA470794533	PDE6C	c.2124A>G (p.Pro708=)
10	g.93658988A>T	CA470794534	PDE6C	c.2124A>T (p.Pro708=)
10	g.93658989A=	CA1928721782	PDE6C	c.2125A= (p.Thr709=)
10	g.93658989A>C	CA377624864	PDE6C	c.2125A>C (p.Thr709Pro)
10	g.93658989A>G	CA211552251	PDE6C	c.2125A>G (p.Thr709Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.93658989A>T	CA377624865	PDE6C	c.2125A>T (p.Thr709Ser)
10	g.93658990C>A	CA377624866	PDE6C	c.2126C>A (p.Thr709Asn)	gnomAD v4
10	g.93658990C>G	CA377624867	PDE6C	c.2126C>G (p.Thr709Ser)
10	g.93658990C>T	CA377624868	PDE6C	c.2126C>T (p.Thr709Ile)	gnomAD v4
10	g.93658991C>A	CA470794535	PDE6C	c.2127C>A (p.Thr709=)	ClinVar gnomAD v4
10	g.93658991C>G	CA470794536	PDE6C	c.2127C>G (p.Thr709=)
10	g.93658991C>T	CA470794537	PDE6C	c.2127C>T (p.Thr709=)
10	g.93658992A>C	CA377624869	PDE6C	c.2128A>C (p.Lys710Gln)
10	g.93658992A>G	CA377624870	PDE6C	c.2128A>G (p.Lys710Glu)
10	g.93658992A>T	CA377624871	PDE6C	c.2128A>T (p.Lys710Ter)
10	g.93658993A>C	CA377624874	PDE6C	c.2129A>C (p.Lys710Thr)
10	g.93658993A>G	CA377624872	PDE6C	c.2129A>G (p.Lys710Arg)	gnomAD v4
10	g.93658993A>T	CA377624873	PDE6C	c.2129A>T (p.Lys710Met)
10	g.93658994G>A	CA470794539	PDE6C	c.2130G>A (p.Lys710=)	dbSNP
10	g.93658994G>C	CA377624875	PDE6C	c.2130G>C (p.Lys710Asn)	dbSNP gnomAD v2 gnomAD v4
10	g.93658994G=	CA1928721783	PDE6C	c.2130G= (p.Lys710=)
10	g.93658994G>T	CA377624876	PDE6C	c.2130G>T (p.Lys710Asn)	gnomAD v4
10	g.93658995A>C	CA377624877	PDE6C	c.2131A>C (p.Lys711Gln)
10	g.93658995A>G	CA377624878	PDE6C	c.2131A>G (p.Lys711Glu)	gnomAD v4
10	g.93658995A>T	CA377624879	PDE6C	c.2131A>T (p.Lys711Ter)
10	g.93658996A>C	CA377624880	PDE6C	c.2132A>C (p.Lys711Thr)	gnomAD v4
10	g.93658996A>G	CA377624881	PDE6C	c.2132A>G (p.Lys711Arg)
10	g.93658996A>T	CA377624882	PDE6C	c.2132A>T (p.Lys711Ile)
10	g.93658997A>C	CA377624883	PDE6C	c.2133A>C (p.Lys711Asn)
10	g.93658997A>G	CA470794540	PDE6C	c.2133A>G (p.Lys711=)
10	g.93658997A>T	CA377624884	PDE6C	c.2133A>T (p.Lys711Asn)
10	g.93658998G>A	CA377624887	PDE6C	c.2134G>A (p.Glu712Lys)
10	g.93658998G>C	CA377624886	PDE6C	c.2134G>C (p.Glu712Gln)
10	g.93658998G>T	CA377624885	PDE6C	c.2134G>T (p.Glu712Ter)
10	g.93658998_93659003delinsGAGATT	CA1928721784	PDE6C	c.2134_2139delinsGAGATT (p.Glu712=)
10	g.93658999A>C	CA377624888	PDE6C	c.2135A>C (p.Glu712Ala)
10	g.93658999A>G	CA377624889	PDE6C	c.2135A>G (p.Glu712Gly)
10	g.93658999A>T	CA377624890	PDE6C	c.2135A>T (p.Glu712Val)
10	g.93658999_93659001del	CA2610212092	PDE6C	c.2135_2137del (p.Glu712_Ile713delinsVal)	gnomAD v4
10	g.93659000_93659004del	CA1928721785	PDE6C	c.2136_2140del (p.Glu712AspfsTer10)	ClinVar dbSNP
10	g.93659000G>A	CA5610406	PDE6C	c.2136G>A (p.Glu712=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93659000G>C	CA377624891	PDE6C	c.2136G>C (p.Glu712Asp)	dbSNP gnomAD v3 gnomAD v4
10	g.93659000G=	CA1928721786	PDE6C	c.2136G= (p.Glu712=)
10	g.93659000G>T	CA5610404	PDE6C	c.2136G>T (p.Glu712Asp)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10	g.93659000_93659003delinsGATT	CA1928721787	PDE6C	c.2136_2139delinsGATT (p.Glu712=)
10	g.93659001A=	CA1928721788	PDE6C	c.2137A= (p.Ile713=)
10	g.93659001A>C	CA377624892	PDE6C	c.2137A>C (p.Ile713Leu)
10	g.93659001A>G	CA377624893	PDE6C	c.2137A>G (p.Ile713Val)
10	g.93659001A>T	CA377624894	PDE6C	c.2137A>T (p.Ile713Phe)	gnomAD v4
10	g.93659003_93659005del	CA5610405	PDE6C	c.2139_2141del (p.Ile714del)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.93659001_93659002insGAAAAAATATCTTAAATACATGCT	CA1928721789	PDE6C	c.2137_2138insGAAAAAATATCTTAAATACATGCT (p.Ile713delinsArgLysAsnIleLeuAsnThrCysPhe)	dbSNP
10	g.93659002T>A	CA377624895	PDE6C	c.2138T>A (p.Ile713Asn)
10	g.93659002T>C	CA377624896	PDE6C	c.2138T>C (p.Ile713Thr)
10	g.93659002T>G	CA377624897	PDE6C	c.2138T>G (p.Ile713Ser)	gnomAD v4
10	g.93659003T>A	CA470794541	PDE6C	c.2139T>A (p.Ile713=)	gnomAD v4
10	g.93659003T>C	CA470794542	PDE6C	c.2139T>C (p.Ile713=)
10	g.93659003T>G	CA377624898	PDE6C	c.2139T>G (p.Ile713Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659003T=	CA1928721790	PDE6C	c.2139T= (p.Ile713=)
10	g.93659004_93659005del	CA2610212093	PDE6C	c.2140_2141del (p.Ile714HisfsTer9)	gnomAD v4
10	g.93659004A=	CA1928721791	PDE6C	c.2140A= (p.Ile714=)
10	g.93659004A>C	CA377624899	PDE6C	c.2140A>C (p.Ile714Leu)
10	g.93659004A>G	CA377624900	PDE6C	c.2140A>G (p.Ile714Val)
10	g.93659004A>T	CA377624901	PDE6C	c.2140A>T (p.Ile714Phe)	dbSNP
10	g.93659005T>A	CA16621606	PDE6C	c.2141T>A (p.Ile714Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
10	g.93659005T>C	CA377624902	PDE6C	c.2141T>C (p.Ile714Thr)
10	g.93659005T>G	CA377624903	PDE6C	c.2141T>G (p.Ile714Ser)
10	g.93659005T=	CA1928721792	PDE6C	c.2141T= (p.Ile714=)
10	g.93659006C>A	CA470794544	PDE6C	c.2142C>A (p.Ile714=)	gnomAD v4
10	g.93659006C>G	CA377624904	PDE6C	c.2142C>G (p.Ile714Met)
10	g.93659006C>T	CA470794543	PDE6C	c.2142C>T (p.Ile714=)
10	g.93659007A>C	CA377624905	PDE6C	c.2143A>C (p.Met715Leu)	gnomAD v4
10	g.93659007A>G	CA377624906	PDE6C	c.2143A>G (p.Met715Val)	gnomAD v4
10	g.93659007A>T	CA377624907	PDE6C	c.2143A>T (p.Met715Leu)	gnomAD v4
10	g.93659008T>A	CA377624908	PDE6C	c.2144T>A (p.Met715Lys)	gnomAD v4
10	g.93659008T>C	CA377624909	PDE6C	c.2144T>C (p.Met715Thr)	dbSNP gnomAD v4
10	g.93659008T>G	CA377624910	PDE6C	c.2144T>G (p.Met715Arg)	gnomAD v4
10	g.93659008T=	CA1928721793	PDE6C	c.2144T= (p.Met715=)
10	g.93659009G>A	CA377624912	PDE6C	c.2144+1G>A (n.2144+1G>A)	gnomAD v4
10	g.93659009G>C	CA377624913	PDE6C	c.2144+1G>C (n.2144+1G>C)
10	g.93659009G>T	CA377624911	PDE6C	c.2144+1G>T (n.2144+1G>T)
10	g.93659010T>A	CA377624916	PDE6C	c.2144+2T>A (n.2144+2T>A)
10	g.93659010T>C	CA377624914	PDE6C	c.2144+2T>C (n.2144+2T>C)	gnomAD v4
10	g.93659010T>G	CA377624915	PDE6C	c.2144+2T>G (n.2144+2T>G)
10	g.93659011_93659024dup	CA2610212094	PDE6C	c.2144+3_2144+16dup (n.2144+3_2144+16dup)	gnomAD v4
10	g.93659011_93659012delinsAG	CA1928721794	PDE6C	c.2144+3_2144+4delinsAG (n.2144+3_2144+4delinsAG)
10	g.93659012G>A	CA2610212096	PDE6C	c.2144+4G>A (n.2144+4G>A)	gnomAD v4
10	g.93659012G>T	CA2610212095	PDE6C	c.2144+4G>T (n.2144+4G>T)	gnomAD v4
10	g.93659013del	CA916083158	PDE6C	c.2144+5del (n.2144+5del)	ClinVar dbSNP gnomAD v4
10	g.93659013G>A	CA931300844	PDE6C	c.2144+5G>A (n.2144+5G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.93659013G=	CA1928721795	PDE6C	c.2144+5G= (n.2144+5G=)
10	g.93659015A=	CA1928721796	PDE6C	c.2144+7A= (n.2144+7A=)
10	g.93659015A>G	CA211552265	PDE6C	c.2144+7A>G (n.2144+7A>G)	dbSNP
10	g.93659017T>C	CA2574616358	PDE6C	c.2144+9T>C (n.2144+9T>C)	gnomAD v4
10	g.93659019G>A	CA2722517615	PDE6C	c.2144+11G>A (n.2144+11G>A)	dbSNP
10	g.93659019_93659020delinsGA	CA1928721797	PDE6C	c.2144+11_2144+12delinsGA (n.2144+11_2144+12delinsGA)
10	g.93659020A>G	CA2574616359	PDE6C	c.2144+12A>G (n.2144+12A>G)
10	g.93659022del	CA595637785	PDE6C	c.2144+14del (n.2144+14del)	dbSNP gnomAD v2 gnomAD v4
10	g.93659021A>C	CA2610212097	PDE6C	c.2144+13A>C (n.2144+13A>C)	gnomAD v4
10	g.93659025_93659029del	CA2610212098	PDE6C	c.2144+17_2144+21del (n.2144+17_2144+21del)	gnomAD v4
10	g.93659023T>C	CA5610407	PDE6C	c.2144+15T>C (n.2144+15T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659023T=	CA1928721798	PDE6C	c.2144+15T= (n.2144+15T=)
10	g.93659024T>A	CA2610212099	PDE6C	c.2144+16T>A (n.2144+16T>A)	gnomAD v4
10	g.93659025G>C	CA2610212100	PDE6C	c.2144+17G>C (n.2144+17G>C)	gnomAD v4
10	g.93659025G=	CA1928721799	PDE6C	c.2144+17G= (n.2144+17G=)
10	g.93659025G>T	CA211552268	PDE6C	c.2144+17G>T (n.2144+17G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.93659027A>C	CA2610212101	PDE6C	c.2144+19A>C (n.2144+19A>C)	gnomAD v4
10	g.93659027A>G	CA2610212102	PDE6C	c.2144+19A>G (n.2144+19A>G)	gnomAD v4
10	g.93659027_93659029delinsATT	CA1928721800	PDE6C	c.2144+19_2144+21delinsATT (n.2144+19_2144+21delinsATT)
10	g.93659028T>C	CA5610408	PDE6C	c.2144+20T>C (n.2144+20T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659028T>G	CA931300861	PDE6C	c.2144+20T>G (n.2144+20T>G)	dbSNP gnomAD v3 gnomAD v4
10	g.93659028T=	CA1928721801	PDE6C	c.2144+20T= (n.2144+20T=)
10	g.93659029_93659030del	CA595637786	PDE6C	c.2144+21_2144+22del (n.2144+21_2144+22del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659029T>C	CA2610212103	PDE6C	c.2144+21T>C (n.2144+21T>C)	gnomAD v4
10	g.93659029_93659033delinsTTCTC	CA1928721802	PDE6C	c.2144+21_2144+25delinsTTCTC (n.2144+21_2144+25delinsTTCTC)
10	g.93659035_93659036del	CA595637787	PDE6C	c.2144+27_2144+28del (n.2144+27_2144+28del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659033_93659036del	CA5610409	PDE6C	c.2144+25_2144+28del (n.2144+25_2144+28del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.93659031C>A	CA2610212104	PDE6C	c.2144+23C>A (n.2144+23C>A)	gnomAD v4

Number of alleles fetched