Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.47936345T>C	CA96687521	CNGA1,NIPAL1	c.76A>G (n.76A>G) n.478+21641T>C n.563+21641T>C c.2356A>G (n.2356A>G)	dbSNP gnomAD v4
4	g.47936345T=	CA1455551539	CNGA1,NIPAL1	c.76A= (n.76A=) n.478+21641T= n.563+21641T= c.2356A= (n.2356A=)
4	g.47936346A>T	CA2578081528	CNGA1,NIPAL1	c.75T>A (n.75T>A) n.478+21642A>T n.563+21642A>T c.2355T>A (n.2355T>A)	gnomAD v4
4	g.47936347A=	CA1455551540	CNGA1,NIPAL1	c.74T= (n.74T=) n.478+21643A= n.563+21643A= c.2354T= (n.2354T=)
4	g.47936347A>G	CA1455551541	CNGA1,NIPAL1	c.74T>C (n.74T>C) n.478+21643A>G n.563+21643A>G c.2354T>C (n.2354T>C)	dbSNP
4	g.47936348A=	CA1455551542	CNGA1,NIPAL1	c.73T= (n.73T=) n.478+21644A= n.563+21644A= c.2353T= (n.2353T=)
4	g.47936348A>C	CA2578081529	CNGA1,NIPAL1	c.73T>G (n.73T>G) n.478+21644A>C n.563+21644A>C c.2353T>G (n.2353T>G)	gnomAD v4
4	g.47936348A>G	CA96687523	CNGA1,NIPAL1	c.73T>C (n.73T>C) n.478+21644A>G n.563+21644A>G c.2353T>C (n.2353T>C)	dbSNP gnomAD v3 gnomAD v4
4	g.47936351T>G	CA2670552304	CNGA1,NIPAL1	c.70A>C (n.70A>C) n.478+21647T>G n.563+21647T>G c.2350A>C (n.2350A>C)	gnomAD v4
4	g.47936352T>C	CA2670552305	CNGA1,NIPAL1	c.69A>G (n.69A>G) n.478+21648T>C n.563+21648T>C c.2349A>G (n.2349A>G)	gnomAD v4
4	g.47936353A>T	CA2670552306	CNGA1,NIPAL1	c.68T>A (n.68T>A) n.478+21649A>T n.563+21649A>T c.2348T>A (n.2348T>A)	gnomAD v4
4	g.47936354G>A	CA2670552307	CNGA1,NIPAL1	c.67C>T (n.67C>T) n.478+21650G>A n.563+21650G>A c.2347C>T (n.2347C>T)	gnomAD v4
4	g.47936354G>T	CA2670552308	CNGA1,NIPAL1	c.67C>A (n.67C>A) n.478+21650G>T n.563+21650G>T c.2347C>A (n.2347C>A)	gnomAD v4
4	g.47936355T>A	CA2670552309	CNGA1,NIPAL1	c.66A>T (n.66A>T) n.478+21651T>A n.563+21651T>A c.2346A>T (n.2346A>T)	gnomAD v4
4	g.47936357G>T	CA2670552310	CNGA1,NIPAL1	c.64C>A (n.64C>A) n.478+21653G>T n.563+21653G>T c.2344C>A (n.2344C>A)	gnomAD v4
4	g.47936358A=	CA1455551543	CNGA1,NIPAL1	c.63T= (n.63T=) n.478+21654A= n.563+21654A= c.2343T= (n.2343T=)
4	g.47936358A>G	CA551650442	CNGA1,NIPAL1	c.63T>C (n.63T>C) n.478+21654A>G n.563+21654A>G c.2343T>C (n.2343T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936359T>A	CA10621136	CNGA1,NIPAL1	c.62A>T (n.62A>T) n.478+21655T>A n.563+21655T>A c.2342A>T (n.2342A>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936359T>C	CA2670552311	CNGA1,NIPAL1	c.62A>G (n.62A>G) n.478+21655T>C n.563+21655T>C c.2342A>G (n.2342A>G)	gnomAD v4
4	g.47936359T=	CA1455551544	CNGA1,NIPAL1	c.62A= (n.62A=) n.478+21655T= n.563+21655T= c.2342A= (n.2342A=)
4	g.47936360G>A	CA551650443	CNGA1,NIPAL1	c.61C>T (n.61C>T) n.478+21656G>A n.563+21656G>A c.2341C>T (n.2341C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936360G=	CA1455551545	CNGA1,NIPAL1	c.61C= (n.61C=) n.478+21656G= n.563+21656G= c.2341C= (n.2341C=)
4	g.47936360G>T	CA2670552312	CNGA1,NIPAL1	c.61C>A (n.61C>A) n.478+21656G>T n.563+21656G>T c.2341C>A (n.2341C>A)	gnomAD v4
4	g.47936361T>C	CA2670552313	CNGA1,NIPAL1	c.60A>G (n.60A>G) n.478+21657T>C n.563+21657T>C c.2340A>G (n.2340A>G)	gnomAD v4
4	g.47936362C>A	CA2670552314	CNGA1,NIPAL1	c.59G>T (n.59G>T) n.478+21658C>A n.563+21658C>A c.2339G>T (n.2339G>T)	gnomAD v4
4	g.47936362C>G	CA2761332291	CNGA1,NIPAL1	c.59G>C (n.59G>C) n.478+21658C>G n.563+21658C>G c.2339G>C (n.2339G>C)
4	g.47936364G>T	CA2670552315	CNGA1,NIPAL1	c.57C>A (n.57C>A) n.478+21660G>T n.563+21660G>T c.2337C>A (n.2337C>A)	gnomAD v4
4	g.47936366C>A	CA2542448750	CNGA1,NIPAL1	c.55G>T (n.55G>T) n.478+21662C>A n.563+21662C>A c.2335G>T (n.2335G>T)
4	g.47936366C>T	CA2670552316	CNGA1,NIPAL1	c.55G>A (n.55G>A) n.478+21662C>T n.563+21662C>T c.2335G>A (n.2335G>A)	gnomAD v4
4	g.47936367A=	CA1455551546	CNGA1,NIPAL1	c.54T= (n.54T=) n.478+21663A= n.563+21663A= c.2334T= (n.2334T=)
4	g.47936367A>G	CA96687540	CNGA1,NIPAL1	c.54T>C (n.54T>C) n.478+21663A>G n.563+21663A>G c.2334T>C (n.2334T>C)	dbSNP gnomAD v3 gnomAD v4
4	g.47936367A>T	CA2670552317	CNGA1,NIPAL1	c.54T>A (n.54T>A) n.478+21663A>T n.563+21663A>T c.2334T>A (n.2334T>A)	gnomAD v4
4	g.47936368T>C	CA795526391	CNGA1,NIPAL1	c.53A>G (n.53A>G) n.478+21664T>C n.563+21664T>C c.2333A>G (n.2333A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.47936368T=	CA1455551547	CNGA1,NIPAL1	c.53A= (n.53A=) n.478+21664T= n.563+21664T= c.2333A= (n.2333A=)
4	g.47936369A>G	CA2578081530	CNGA1,NIPAL1	c.52T>C (n.52T>C) n.478+21665A>G n.563+21665A>G c.2332T>C (n.2332T>C)	gnomAD v4
4	g.47936370G>A	CA96687547	CNGA1,NIPAL1	c.51C>T (n.51C>T) n.478+21666G>A n.563+21666G>A c.2331C>T (n.2331C>T)	dbSNP
4	g.47936370G=	CA1455551548	CNGA1,NIPAL1	c.51C= (n.51C=) n.478+21666G= n.563+21666G= c.2331C= (n.2331C=)
4	g.47936371G>A	CA96687549	CNGA1,NIPAL1	c.50C>T (n.50C>T) n.478+21667G>A n.563+21667G>A c.2330C>T (n.2330C>T)	dbSNP
4	g.47936371G>C	CA1455551549	CNGA1,NIPAL1	c.50C>G (n.50C>G) n.478+21667G>C n.563+21667G>C c.2330C>G (n.2330C>G)	dbSNP gnomAD v4
4	g.47936371G=	CA1455551550	CNGA1,NIPAL1	c.50C= (n.50C=) n.478+21667G= n.563+21667G= c.2330C= (n.2330C=)
4	g.47936371G>T	CA2578081531	CNGA1,NIPAL1	c.50C>A (n.50C>A) n.478+21667G>T n.563+21667G>T c.2330C>A (n.2330C>A)
4	g.47936378A>G	CA2670552318	CNGA1,NIPAL1	c.43T>C (n.43T>C) n.478+21674A>G n.563+21674A>G c.2323T>C (n.2323T>C)	gnomAD v4
4	g.47936379G>A	CA2670552319	CNGA1,NIPAL1	c.42C>T (n.42C>T) n.478+21675G>A n.563+21675G>A c.2322C>T (n.2322C>T)	gnomAD v4
4	g.47936379G>T	CA2670552320	CNGA1,NIPAL1	c.42C>A (n.42C>A) n.478+21675G>T n.563+21675G>T c.2322C>A (n.2322C>A)	gnomAD v4
4	g.47936380G>T	CA2670552321	CNGA1,NIPAL1	c.41C>A (n.41C>A) n.478+21676G>T n.563+21676G>T c.2321C>A (n.2321C>A)	gnomAD v4
4	g.47936383C>A	CA2578081532	CNGA1,NIPAL1	c.38G>T (n.38G>T) n.478+21679C>A n.563+21679C>A c.2318G>T (n.2318G>T)
4	g.47936384A>G	CA2670552322	CNGA1,NIPAL1	c.37T>C (n.37T>C) n.478+21680A>G n.563+21680A>G c.2317T>C (n.2317T>C)	gnomAD v4
4	g.47936385T>C	CA1455551552	CNGA1,NIPAL1	c.36A>G (n.36A>G) n.478+21681T>C n.563+21681T>C c.2316A>G (n.2316A>G)	dbSNP gnomAD v4
4	g.47936385T=	CA1455551551	CNGA1,NIPAL1	c.36A= (n.36A=) n.478+21681T= n.563+21681T= c.2316A= (n.2316A=)
4	g.47936386G>A	CA2910960	CNGA1,NIPAL1	c.35C>T (n.35C>T) n.478+21682G>A n.563+21682G>A c.2315C>T (n.2315C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936386G=	CA1455551553	CNGA1,NIPAL1	c.35C= (n.35C=) n.478+21682G= n.563+21682G= c.2315C= (n.2315C=)
4	g.47936386G>T	CA2670552323	CNGA1,NIPAL1	c.35C>A (n.35C>A) n.478+21682G>T n.563+21682G>T c.2315C>A (n.2315C>A)	gnomAD v4
4	g.47936388G>A	CA2670552324	CNGA1,NIPAL1	c.33C>T (n.33C>T) n.478+21684G>A n.563+21684G>A c.2313C>T (n.2313C>T)	gnomAD v4
4	g.47936388G=	CA1455551554	CNGA1,NIPAL1	c.33C= (n.33C=) n.478+21684G= n.563+21684G= c.2313C= (n.2313C=)
4	g.47936388G>T	CA551650447	CNGA1,NIPAL1	c.33C>A (n.33C>A) n.478+21684G>T n.563+21684G>T c.2313C>A (n.2313C>A)	dbSNP gnomAD v2 gnomAD v4
4	g.47936389G>T	CA2670552325	CNGA1,NIPAL1	c.32C>A (n.32C>A) n.478+21685G>T n.563+21685G>T c.2312C>A (n.2312C>A)	gnomAD v4
4	g.47936390C=	CA1455551555	CNGA1,NIPAL1	c.31G= (n.31G=) n.478+21686C= n.563+21686C= c.2311G= (n.2311G=)
4	g.47936390C>T	CA2910961	CNGA1,NIPAL1	c.31G>A (n.31G>A) n.478+21686C>T n.563+21686C>T c.2311G>A (n.2311G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936391A=	CA1455551556	CNGA1,NIPAL1	c.30T= (n.30T=) n.478+21687A= n.563+21687A= c.2310T= (n.2310T=)
4	g.47936391A>G	CA2670552326	CNGA1,NIPAL1	c.30T>C (n.30T>C) n.478+21687A>G n.563+21687A>G c.2310T>C (n.2310T>C)	gnomAD v4
4	g.47936391A>T	CA1455551557	CNGA1,NIPAL1	c.30T>A (n.30T>A) n.478+21687A>T n.563+21687A>T c.2310T>A (n.2310T>A)	dbSNP
4	g.47936392T>C	CA1455551559	CNGA1,NIPAL1	c.29A>G (n.29A>G) n.478+21688T>C n.563+21688T>C c.2309A>G (n.2309A>G)	dbSNP gnomAD v4
4	g.47936392T=	CA1455551558	CNGA1,NIPAL1	c.29A= (n.29A=) n.478+21688T= n.563+21688T= c.2309A= (n.2309A=)
4	g.47936393G>T	CA2670552327	CNGA1,NIPAL1	c.28C>A (n.28C>A) n.478+21689G>T n.563+21689G>T c.2308C>A (n.2308C>A)	gnomAD v4
4	g.47936394T>A	CA2670552328	CNGA1,NIPAL1	c.27A>T (n.27A>T) n.478+21690T>A n.563+21690T>A c.2307A>T (n.2307A>T)	gnomAD v4
4	g.47936394T>C	CA2670552329	CNGA1,NIPAL1	c.27A>G (n.27A>G) n.478+21690T>C n.563+21690T>C c.2307A>G (n.2307A>G)	gnomAD v4
4	g.47936394T>G	CA2578081533	CNGA1,NIPAL1	c.27A>C (n.27A>C) n.478+21690T>G n.563+21690T>G c.2307A>C (n.2307A>C)
4	g.47936395C>T	CA2670552330	CNGA1,NIPAL1	c.26G>A (n.26G>A) n.478+21691C>T n.563+21691C>T c.2306G>A (n.2306G>A)	gnomAD v4
4	g.47936396C>T	CA2670552331	CNGA1,NIPAL1	c.25G>A (n.25G>A) n.478+21692C>T n.563+21692C>T c.2305G>A (n.2305G>A)	gnomAD v4
4	g.47936398T>C	CA2670552332	CNGA1,NIPAL1	c.23A>G (n.23A>G) n.478+21694T>C n.563+21694T>C c.2303A>G (n.2303A>G)	gnomAD v4
4	g.47936399G>C	CA2670552334	CNGA1,NIPAL1	c.22C>G (n.22C>G) n.478+21695G>C n.563+21695G>C c.2302C>G (n.2302C>G)	gnomAD v4
4	g.47936399G>T	CA2670552333	CNGA1,NIPAL1	c.22C>A (n.22C>A) n.478+21695G>T n.563+21695G>T c.2302C>A (n.2302C>A)	gnomAD v4
4	g.47936401T>C	CA2578081534	CNGA1,NIPAL1	c.20A>G (n.20A>G) n.478+21697T>C n.563+21697T>C c.2300A>G (n.2300A>G)
4	g.47936402A=	CA1455551560	CNGA1,NIPAL1	c.19T= (n.19T=) n.478+21698A= n.563+21698A= c.2299T= (n.2299T=)
4	g.47936402A>G	CA551650448	CNGA1,NIPAL1	c.19T>C (n.19T>C) n.478+21698A>G n.563+21698A>G c.2299T>C (n.2299T>C)	dbSNP gnomAD v2 gnomAD v4
4	g.47936403A=	CA1455551561	CNGA1,NIPAL1	c.18T= (n.18T=) n.478+21699A= n.563+21699A= c.2298T= (n.2298T=)
4	g.47936403A>G	CA2910962	CNGA1,NIPAL1	c.18T>C (n.18T>C) n.478+21699A>G n.563+21699A>G c.2298T>C (n.2298T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.47936404T>C	CA96687582	CNGA1,NIPAL1	c.17A>G (n.17A>G) n.478+21700T>C n.563+21700T>C c.2297A>G (n.2297A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936404T=	CA1455551562	CNGA1,NIPAL1	c.17A= (n.17A=) n.478+21700T= n.563+21700T= c.2297A= (n.2297A=)
4	g.47936405G>T	CA2670552335	CNGA1,NIPAL1	c.16C>A (n.16C>A) n.478+21701G>T n.563+21701G>T c.2296C>A (n.2296C>A)	gnomAD v4
4	g.47936406A=	CA1455551563	CNGA1,NIPAL1	c.15T= (n.15T=) n.478+21702A= n.563+21702A= c.2295T= (n.2295T=)
4	g.47936406A>C	CA551650449	CNGA1,NIPAL1	c.15T>G (n.15T>G) n.478+21702A>C n.563+21702A>C c.2295T>G (n.2295T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936407C=	CA1455551564	CNGA1,NIPAL1	c.14G= (n.14G=) n.478+21703C= n.563+21703C= c.2294G= (n.2294G=)
4	g.47936407C>T	CA551650450	CNGA1,NIPAL1	c.14G>A (n.14G>A) n.478+21703C>T n.563+21703C>T c.2294G>A (n.2294G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.47936409A>C	CA2670552336	CNGA1,NIPAL1	c.12T>G (n.12T>G) n.478+21705A>C n.563+21705A>C c.2292T>G (n.2292T>G)	gnomAD v4
4	g.47936410G>A	CA551650451	CNGA1,NIPAL1	c.11C>T (n.11C>T) n.478+21706G>A n.563+21706G>A c.2291C>T (n.2291C>T)	dbSNP gnomAD v2 gnomAD v4
4	g.47936410G>C	CA2670552337	CNGA1,NIPAL1	c.11C>G (n.11C>G) n.478+21706G>C n.563+21706G>C c.2291C>G (n.2291C>G)	gnomAD v4
4	g.47936410G=	CA1455551565	CNGA1,NIPAL1	c.11C= (n.11C=) n.478+21706G= n.563+21706G= c.2291C= (n.2291C=)
4	g.47936411del	CA2578081536	CNGA1,NIPAL1	c.10del (n.10del) n.478+21707del n.563+21707del c.2290del (n.2290del)	gnomAD v4
4	g.47936411C>A	CA2578081535	CNGA1,NIPAL1	c.10G>T (n.10G>T) n.478+21707C>A n.563+21707C>A c.2290G>T (n.2290G>T)	gnomAD v4
4	g.47936411C=	CA1455551566	CNGA1,NIPAL1	c.10G= (n.10G=) n.478+21707C= n.563+21707C= c.2290G= (n.2290G=)
4	g.47936411C>T	CA2910963	CNGA1,NIPAL1	c.10G>A (n.10G>A) n.478+21707C>T n.563+21707C>T c.2290G>A (n.2290G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.47936412T>G	CA795526392	CNGA1,NIPAL1	c.9A>C (n.9A>C) n.478+21708T>G n.563+21708T>G c.2289A>C (n.2289A>C)	dbSNP gnomAD v3 gnomAD v4
4	g.47936412T=	CA1455551567	CNGA1,NIPAL1	c.9A= (n.9A=) n.478+21708T= n.563+21708T= c.2289A= (n.2289A=)
4	g.47936416C=	CA1455551568	CNGA1,NIPAL1	c.5G= (n.5G=) n.478+21712C= n.563+21712C= c.2285G= (n.2285G=)
4	g.47936416C>T	CA2910964	CNGA1,NIPAL1	c.5G>A (n.5G>A) n.478+21712C>T n.563+21712C>T c.2285G>A (n.2285G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936417G>A	CA2910965	CNGA1,NIPAL1	c.4C>T (n.4C>T) n.478+21713G>A n.563+21713G>A c.2284C>T (n.2284C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.47936417G=	CA1455551569	CNGA1,NIPAL1	c.4C= (n.4C=) n.478+21713G= n.563+21713G= c.2284C= (n.2284C=)
4	g.47936417G>T	CA551650452	CNGA1,NIPAL1	c.4C>A (n.4C>A) n.478+21713G>T n.563+21713G>T c.2284C>A (n.2284C>A)	dbSNP gnomAD v2 gnomAD v4
4	g.47936418G>C	CA1455551571	CNGA1,NIPAL1	c.3C>G (n.3C>G) n.478+21714G>C n.563+21714G>C c.2283C>G (n.2283C>G)	dbSNP
4	g.47936418G=	CA1455551570	CNGA1,NIPAL1	c.3C= (n.3C=) n.478+21714G= n.563+21714G= c.2283C= (n.2283C=)
4	g.47936421C>A	CA356822872	CNGA1,NIPAL1	c.2061G>T (p.Ter687Tyr) c.2073G>T (p.Ter691Tyr) c.2280G>T (p.Ter760Tyr) n.478+21717C>A n.563+21717C>A c.2298G>T (p.Ter766Tyr)	dbSNP gnomAD v3 gnomAD v4
4	g.47936421C=	CA1455551572	CNGA1,NIPAL1	c.2061G= (p.Ter687=) c.2073G= (p.Ter691=) c.2280G= (p.Ter760=) n.478+21717C= n.563+21717C= c.2298G= (p.Ter766=)
4	g.47936421C>G	CA356822873	CNGA1,NIPAL1	c.2061G>C (p.Ter687Tyr) c.2073G>C (p.Ter691Tyr) c.2280G>C (p.Ter760Tyr) n.478+21717C>G n.563+21717C>G c.2298G>C (p.Ter766Tyr)
4	g.47936421C>T	CA439247943	CNGA1,NIPAL1	c.2061G>A (p.Ter687=) c.2073G>A (p.Ter691=) c.2280G>A (p.Ter760=) n.478+21717C>T n.563+21717C>T c.2298G>A (p.Ter766=)
4	g.47936422T>A	CA356822874	CNGA1,NIPAL1	c.2060A>T (p.Ter687Leu) c.2072A>T (p.Ter691Leu) c.2279A>T (p.Ter760Leu) n.478+21718T>A n.563+21718T>A c.2297A>T (p.Ter766Leu)
4	g.47936422T>C	CA356822876	CNGA1,NIPAL1	c.2060A>G (p.Ter687Trp) c.2072A>G (p.Ter691Trp) c.2279A>G (p.Ter760Trp) n.478+21718T>C n.563+21718T>C c.2297A>G (p.Ter766Trp)
4	g.47936422T>G	CA356822875	CNGA1,NIPAL1	c.2060A>C (p.Ter687Ser) c.2072A>C (p.Ter691Ser) c.2279A>C (p.Ter760Ser) n.478+21718T>G n.563+21718T>G c.2297A>C (p.Ter766Ser)
4	g.47936423A=	CA1455551573	CNGA1,NIPAL1	c.2059T= (p.Ter687=) c.2071T= (p.Ter691=) c.2278T= (p.Ter760=) n.478+21719A= n.563+21719A= c.2296T= (p.Ter766=)
4	g.47936423A>C	CA356822877	CNGA1,NIPAL1	c.2059T>G (p.Ter687Glu) c.2071T>G (p.Ter691Glu) c.2278T>G (p.Ter760Glu) n.478+21719A>C n.563+21719A>C c.2296T>G (p.Ter766Glu)
4	g.47936423A>G	CA356822878	CNGA1,NIPAL1	c.2059T>C (p.Ter687Gln) c.2071T>C (p.Ter691Gln) c.2278T>C (p.Ter760Gln) n.478+21719A>G n.563+21719A>G c.2296T>C (p.Ter766Gln)	dbSNP gnomAD v2 gnomAD v4
4	g.47936423A>T	CA356822879	CNGA1,NIPAL1	c.2059T>A (p.Ter687Lys) c.2071T>A (p.Ter691Lys) c.2278T>A (p.Ter760Lys) n.478+21719A>T n.563+21719A>T c.2296T>A (p.Ter766Lys)
4	g.47936424T>A	CA439247945	CNGA1,NIPAL1	c.2058A>T (p.Thr686=) c.2070A>T (p.Thr690=) c.2277A>T (p.Thr759=) n.478+21720T>A n.563+21720T>A c.2295A>T (p.Thr765=)
4	g.47936424T>C	CA439247946	CNGA1,NIPAL1	c.2058A>G (p.Thr686=) c.2070A>G (p.Thr690=) c.2277A>G (p.Thr759=) n.478+21720T>C n.563+21720T>C c.2295A>G (p.Thr765=)
4	g.47936424T>G	CA439247947	CNGA1,NIPAL1	c.2058A>C (p.Thr686=) c.2070A>C (p.Thr690=) c.2277A>C (p.Thr759=) n.478+21720T>G n.563+21720T>G c.2295A>C (p.Thr765=)
4	g.47936425G>A	CA356822880	CNGA1,NIPAL1	c.2057C>T (p.Thr686Ile) c.2069C>T (p.Thr690Ile) c.2276C>T (p.Thr759Ile) n.478+21721G>A n.563+21721G>A c.2294C>T (p.Thr765Ile)
4	g.47936425G>C	CA356822881	CNGA1,NIPAL1	c.2057C>G (p.Thr686Arg) c.2069C>G (p.Thr690Arg) c.2276C>G (p.Thr759Arg) n.478+21721G>C n.563+21721G>C c.2294C>G (p.Thr765Arg)
4	g.47936425G>T	CA356822882	CNGA1,NIPAL1	c.2057C>A (p.Thr686Lys) c.2069C>A (p.Thr690Lys) c.2276C>A (p.Thr759Lys) n.478+21721G>T n.563+21721G>T c.2294C>A (p.Thr765Lys)
4	g.47936426T>A	CA356822883	CNGA1,NIPAL1	c.2056A>T (p.Thr686Ser) c.2068A>T (p.Thr690Ser) c.2275A>T (p.Thr759Ser) n.478+21722T>A n.563+21722T>A c.2293A>T (p.Thr765Ser)
4	g.47936426T>C	CA356822884	CNGA1,NIPAL1	c.2056A>G (p.Thr686Ala) c.2068A>G (p.Thr690Ala) c.2275A>G (p.Thr759Ala) n.478+21722T>C n.563+21722T>C c.2293A>G (p.Thr765Ala)
4	g.47936426T>G	CA356822885	CNGA1,NIPAL1	c.2056A>C (p.Thr686Pro) c.2068A>C (p.Thr690Pro) c.2275A>C (p.Thr759Pro) n.478+21722T>G n.563+21722T>G c.2293A>C (p.Thr765Pro)
4	g.47936427A>C	CA439247949	CNGA1,NIPAL1	c.2055T>G (p.Ser685=) c.2067T>G (p.Ser689=) c.2274T>G (p.Ser758=) n.478+21723A>C n.563+21723A>C c.2292T>G (p.Ser764=)
4	g.47936427A>G	CA439247950	CNGA1,NIPAL1	c.2055T>C (p.Ser685=) c.2067T>C (p.Ser689=) c.2274T>C (p.Ser758=) n.478+21723A>G n.563+21723A>G c.2292T>C (p.Ser764=)	gnomAD v4
4	g.47936427A>T	CA439247951	CNGA1,NIPAL1	c.2055T>A (p.Ser685=) c.2067T>A (p.Ser689=) c.2274T>A (p.Ser758=) n.478+21723A>T n.563+21723A>T c.2292T>A (p.Ser764=)
4	g.47936429_47936430del	CA2761332292	CNGA1,NIPAL1	c.2054_2055del (p.Ser685TyrfsTer21) c.2066_2067del (p.Ser689TyrfsTer21) c.2273_2274del (p.Ser758TyrfsTer21) n.478+21725_478+21726del n.563+21725_563+21726del c.2291_2292del (p.Ser764TyrfsTer21)
4	g.47936428G>A	CA356822886	CNGA1,NIPAL1	c.2054C>T (p.Ser685Phe) c.2066C>T (p.Ser689Phe) c.2273C>T (p.Ser758Phe) n.478+21724G>A n.563+21724G>A c.2291C>T (p.Ser764Phe)	dbSNP gnomAD v2 gnomAD v4
4	g.47936428G>C	CA356822887	CNGA1,NIPAL1	c.2054C>G (p.Ser685Cys) c.2066C>G (p.Ser689Cys) c.2273C>G (p.Ser758Cys) n.478+21724G>C n.563+21724G>C c.2291C>G (p.Ser764Cys)
4	g.47936428G=	CA1455551574	CNGA1,NIPAL1	c.2054C= (p.Ser685=) c.2066C= (p.Ser689=) c.2273C= (p.Ser758=) n.478+21724G= n.563+21724G= c.2291C= (p.Ser764=)
4	g.47936428G>T	CA356822888	CNGA1,NIPAL1	c.2054C>A (p.Ser685Tyr) c.2066C>A (p.Ser689Tyr) c.2273C>A (p.Ser758Tyr) n.478+21724G>T n.563+21724G>T c.2291C>A (p.Ser764Tyr)
4	g.47936429A=	CA1455551575	CNGA1,NIPAL1	c.2053T= (p.Ser685=) c.2065T= (p.Ser689=) c.2272T= (p.Ser758=) n.478+21725A= n.563+21725A= c.2290T= (p.Ser764=)
4	g.47936429A>C	CA96687615	CNGA1,NIPAL1	c.2053T>G (p.Ser685Ala) c.2065T>G (p.Ser689Ala) c.2272T>G (p.Ser758Ala) n.478+21725A>C n.563+21725A>C c.2290T>G (p.Ser764Ala)	dbSNP gnomAD v4
4	g.47936429A>G	CA356822890	CNGA1,NIPAL1	c.2053T>C (p.Ser685Pro) c.2065T>C (p.Ser689Pro) c.2272T>C (p.Ser758Pro) n.478+21725A>G n.563+21725A>G c.2290T>C (p.Ser764Pro)	gnomAD v4
4	g.47936429A>T	CA356822889	CNGA1,NIPAL1	c.2053T>A (p.Ser685Thr) c.2065T>A (p.Ser689Thr) c.2272T>A (p.Ser758Thr) n.478+21725A>T n.563+21725A>T c.2290T>A (p.Ser764Thr)
4	g.47936430G>A	CA439247955	CNGA1,NIPAL1	c.2052C>T (p.Asp684=) c.2064C>T (p.Asp688=) c.2271C>T (p.Asp757=) n.478+21726G>A n.563+21726G>A c.2289C>T (p.Asp763=)
4	g.47936430G>C	CA356822891	CNGA1,NIPAL1	c.2052C>G (p.Asp684Glu) c.2064C>G (p.Asp688Glu) c.2271C>G (p.Asp757Glu) n.478+21726G>C n.563+21726G>C c.2289C>G (p.Asp763Glu)
4	g.47936430G>T	CA356822892	CNGA1,NIPAL1	c.2052C>A (p.Asp684Glu) c.2064C>A (p.Asp688Glu) c.2271C>A (p.Asp757Glu) n.478+21726G>T n.563+21726G>T c.2289C>A (p.Asp763Glu)
4	g.47936431T>A	CA356822893	CNGA1,NIPAL1	c.2051A>T (p.Asp684Val) c.2063A>T (p.Asp688Val) c.2270A>T (p.Asp757Val) n.478+21727T>A n.563+21727T>A c.2288A>T (p.Asp763Val)	ClinVar
4	g.47936431T>C	CA356822894	CNGA1,NIPAL1	c.2051A>G (p.Asp684Gly) c.2063A>G (p.Asp688Gly) c.2270A>G (p.Asp757Gly) n.478+21727T>C n.563+21727T>C c.2288A>G (p.Asp763Gly)
4	g.47936431T>G	CA356822895	CNGA1,NIPAL1	c.2051A>C (p.Asp684Ala) c.2063A>C (p.Asp688Ala) c.2270A>C (p.Asp757Ala) n.478+21727T>G n.563+21727T>G c.2288A>C (p.Asp763Ala)
4	g.47936432C>A	CA356822896	CNGA1,NIPAL1	c.2050G>T (p.Asp684Tyr) c.2062G>T (p.Asp688Tyr) c.2269G>T (p.Asp757Tyr) n.478+21728C>A n.563+21728C>A c.2287G>T (p.Asp763Tyr)
4	g.47936432C=	CA1455551576	CNGA1,NIPAL1	c.2050G= (p.Asp684=) c.2062G= (p.Asp688=) c.2269G= (p.Asp757=) n.478+21728C= n.563+21728C= c.2287G= (p.Asp763=)
4	g.47936432C>G	CA96687628	CNGA1,NIPAL1	c.2050G>C (p.Asp684His) c.2062G>C (p.Asp688His) c.2269G>C (p.Asp757His) n.478+21728C>G n.563+21728C>G c.2287G>C (p.Asp763His)	dbSNP
4	g.47936432C>T	CA96687652	CNGA1,NIPAL1	c.2050G>A (p.Asp684Asn) c.2062G>A (p.Asp688Asn) c.2269G>A (p.Asp757Asn) n.478+21728C>T n.563+21728C>T c.2287G>A (p.Asp763Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4	g.47936433G>A	CA2910966	CNGA1,NIPAL1	c.2049C>T (p.Ile683=) c.2061C>T (p.Ile687=) c.2268C>T (p.Ile756=) n.478+21729G>A n.563+21729G>A c.2286C>T (p.Ile762=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936433G>C	CA356822897	CNGA1,NIPAL1	c.2049C>G (p.Ile683Met) c.2061C>G (p.Ile687Met) c.2268C>G (p.Ile756Met) n.478+21729G>C n.563+21729G>C c.2286C>G (p.Ile762Met)
4	g.47936433G=	CA1455551577	CNGA1,NIPAL1	c.2049C= (p.Ile683=) c.2061C= (p.Ile687=) c.2268C= (p.Ile756=) n.478+21729G= n.563+21729G= c.2286C= (p.Ile762=)
4	g.47936433G>T	CA2910967	CNGA1,NIPAL1	c.2049C>A (p.Ile683=) c.2061C>A (p.Ile687=) c.2268C>A (p.Ile756=) n.478+21729G>T n.563+21729G>T c.2286C>A (p.Ile762=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.47936434A>C	CA356822898	CNGA1,NIPAL1	c.2048T>G (p.Ile683Ser) c.2060T>G (p.Ile687Ser) c.2267T>G (p.Ile756Ser) n.478+21730A>C n.563+21730A>C c.2285T>G (p.Ile762Ser)
4	g.47936434A>G	CA356822899	CNGA1,NIPAL1	c.2048T>C (p.Ile683Thr) c.2060T>C (p.Ile687Thr) c.2267T>C (p.Ile756Thr) n.478+21730A>G n.563+21730A>G c.2285T>C (p.Ile762Thr)
4	g.47936434A>T	CA356822900	CNGA1,NIPAL1	c.2048T>A (p.Ile683Asn) c.2060T>A (p.Ile687Asn) c.2267T>A (p.Ile756Asn) n.478+21730A>T n.563+21730A>T c.2285T>A (p.Ile762Asn)
4	g.47936435T>A	CA356822901	CNGA1,NIPAL1	c.2047A>T (p.Ile683Phe) c.2059A>T (p.Ile687Phe) c.2266A>T (p.Ile756Phe) n.478+21731T>A n.563+21731T>A c.2284A>T (p.Ile762Phe)
4	g.47936435T>C	CA356822903	CNGA1,NIPAL1	c.2047A>G (p.Ile683Val) c.2059A>G (p.Ile687Val) c.2266A>G (p.Ile756Val) n.478+21731T>C n.563+21731T>C c.2284A>G (p.Ile762Val)	gnomAD v4 COSMIC
4	g.47936435T>G	CA356822902	CNGA1,NIPAL1	c.2047A>C (p.Ile683Leu) c.2059A>C (p.Ile687Leu) c.2266A>C (p.Ile756Leu) n.478+21731T>G n.563+21731T>G c.2284A>C (p.Ile762Leu)	ClinVar dbSNP
4	g.47936436G>A	CA2910968	CNGA1,NIPAL1	c.2046C>T (p.Pro682=) c.2058C>T (p.Pro686=) c.2265C>T (p.Pro755=) n.478+21732G>A n.563+21732G>A c.2283C>T (p.Pro761=)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.47936436G>C	CA439247957	CNGA1,NIPAL1	c.2046C>G (p.Pro682=) c.2058C>G (p.Pro686=) c.2265C>G (p.Pro755=) n.478+21732G>C n.563+21732G>C c.2283C>G (p.Pro761=)	ClinVar gnomAD v4
4	g.47936436G=	CA1455551578	CNGA1,NIPAL1	c.2046C= (p.Pro682=) c.2058C= (p.Pro686=) c.2265C= (p.Pro755=) n.478+21732G= n.563+21732G= c.2283C= (p.Pro761=)
4	g.47936436G>T	CA439247959	CNGA1,NIPAL1	c.2046C>A (p.Pro682=) c.2058C>A (p.Pro686=) c.2265C>A (p.Pro755=) n.478+21732G>T n.563+21732G>T c.2283C>A (p.Pro761=)
4	g.47936437G>A	CA356822904	CNGA1,NIPAL1	c.2045C>T (p.Pro682Leu) c.2057C>T (p.Pro686Leu) c.2264C>T (p.Pro755Leu) n.478+21733G>A n.563+21733G>A c.2282C>T (p.Pro761Leu)
4	g.47936437G>C	CA356822905	CNGA1,NIPAL1	c.2045C>G (p.Pro682Arg) c.2057C>G (p.Pro686Arg) c.2264C>G (p.Pro755Arg) n.478+21733G>C n.563+21733G>C c.2282C>G (p.Pro761Arg)
4	g.47936437G>T	CA356822906	CNGA1,NIPAL1	c.2045C>A (p.Pro682His) c.2057C>A (p.Pro686His) c.2264C>A (p.Pro755His) n.478+21733G>T n.563+21733G>T c.2282C>A (p.Pro761His)
4	g.47936438G>A	CA356822907	CNGA1,NIPAL1	c.2044C>T (p.Pro682Ser) c.2056C>T (p.Pro686Ser) c.2263C>T (p.Pro755Ser) n.478+21734G>A n.563+21734G>A c.2281C>T (p.Pro761Ser)
4	g.47936438G>C	CA356822908	CNGA1,NIPAL1	c.2044C>G (p.Pro682Ala) c.2056C>G (p.Pro686Ala) c.2263C>G (p.Pro755Ala) n.478+21734G>C n.563+21734G>C c.2281C>G (p.Pro761Ala)
4	g.47936438G>T	CA356822909	CNGA1,NIPAL1	c.2044C>A (p.Pro682Thr) c.2056C>A (p.Pro686Thr) c.2263C>A (p.Pro755Thr) n.478+21734G>T n.563+21734G>T c.2281C>A (p.Pro761Thr)
4	g.47936439C>A	CA439247966	CNGA1,NIPAL1	c.2043G>T (p.Gly681=) c.2055G>T (p.Gly685=) c.2262G>T (p.Gly754=) n.478+21735C>A n.563+21735C>A c.2280G>T (p.Gly760=)
4	g.47936439C>G	CA439247968	CNGA1,NIPAL1	c.2043G>C (p.Gly681=) c.2055G>C (p.Gly685=) c.2262G>C (p.Gly754=) n.478+21735C>G n.563+21735C>G c.2280G>C (p.Gly760=)
4	g.47936439C>T	CA439247970	CNGA1,NIPAL1	c.2043G>A (p.Gly681=) c.2055G>A (p.Gly685=) c.2262G>A (p.Gly754=) n.478+21735C>T n.563+21735C>T c.2280G>A (p.Gly760=)
4	g.47936440C>A	CA356822910	CNGA1,NIPAL1	c.2042G>T (p.Gly681Val) c.2054G>T (p.Gly685Val) c.2261G>T (p.Gly754Val) n.478+21736C>A n.563+21736C>A c.2279G>T (p.Gly760Val)
4	g.47936440C=	CA1455551579	CNGA1,NIPAL1	c.2042G= (p.Gly681=) c.2054G= (p.Gly685=) c.2261G= (p.Gly754=) n.478+21736C= n.563+21736C= c.2279G= (p.Gly760=)
4	g.47936440C>G	CA356822911	CNGA1,NIPAL1	c.2042G>C (p.Gly681Ala) c.2054G>C (p.Gly685Ala) c.2261G>C (p.Gly754Ala) n.478+21736C>G n.563+21736C>G c.2279G>C (p.Gly760Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.47936440C>T	CA356822912	CNGA1,NIPAL1	c.2042G>A (p.Gly681Glu) c.2054G>A (p.Gly685Glu) c.2261G>A (p.Gly754Glu) n.478+21736C>T n.563+21736C>T c.2279G>A (p.Gly760Glu)
4	g.47936441C>A	CA356822913	CNGA1,NIPAL1	c.2041G>T (p.Gly681Trp) c.2053G>T (p.Gly685Trp) c.2260G>T (p.Gly754Trp) n.478+21737C>A n.563+21737C>A c.2278G>T (p.Gly760Trp)
4	g.47936441C>G	CA356822915	CNGA1,NIPAL1	c.2041G>C (p.Gly681Arg) c.2053G>C (p.Gly685Arg) c.2260G>C (p.Gly754Arg) n.478+21737C>G n.563+21737C>G c.2278G>C (p.Gly760Arg)
4	g.47936441C>T	CA356822914	CNGA1,NIPAL1	c.2041G>A (p.Gly681Arg) c.2053G>A (p.Gly685Arg) c.2260G>A (p.Gly754Arg) n.478+21737C>T n.563+21737C>T c.2278G>A (p.Gly760Arg)
4	g.47936442A>C	CA356822916	CNGA1,NIPAL1	c.2040T>G (p.Ser680Arg) c.2052T>G (p.Ser684Arg) c.2259T>G (p.Ser753Arg) n.478+21738A>C n.563+21738A>C c.2277T>G (p.Ser759Arg)
4	g.47936442A>G	CA439247974	CNGA1,NIPAL1	c.2040T>C (p.Ser680=) c.2052T>C (p.Ser684=) c.2259T>C (p.Ser753=) n.478+21738A>G n.563+21738A>G c.2277T>C (p.Ser759=)
4	g.47936442A>T	CA356822917	CNGA1,NIPAL1	c.2040T>A (p.Ser680Arg) c.2052T>A (p.Ser684Arg) c.2259T>A (p.Ser753Arg) n.478+21738A>T n.563+21738A>T c.2277T>A (p.Ser759Arg)
4	g.47936443C>A	CA356822918	CNGA1,NIPAL1	c.2039G>T (p.Ser680Ile) c.2051G>T (p.Ser684Ile) c.2258G>T (p.Ser753Ile) n.478+21739C>A n.563+21739C>A c.2276G>T (p.Ser759Ile)
4	g.47936443C>G	CA356822919	CNGA1,NIPAL1	c.2039G>C (p.Ser680Thr) c.2051G>C (p.Ser684Thr) c.2258G>C (p.Ser753Thr) n.478+21739C>G n.563+21739C>G c.2276G>C (p.Ser759Thr)
4	g.47936443C>T	CA356822920	CNGA1,NIPAL1	c.2039G>A (p.Ser680Asn) c.2051G>A (p.Ser684Asn) c.2258G>A (p.Ser753Asn) n.478+21739C>T n.563+21739C>T c.2276G>A (p.Ser759Asn)
4	g.47936444T>A	CA356822921	CNGA1,NIPAL1	c.2038A>T (p.Ser680Cys) c.2050A>T (p.Ser684Cys) c.2257A>T (p.Ser753Cys) n.478+21740T>A n.563+21740T>A c.2275A>T (p.Ser759Cys)
4	g.47936444T>C	CA356822922	CNGA1,NIPAL1	c.2038A>G (p.Ser680Gly) c.2050A>G (p.Ser684Gly) c.2257A>G (p.Ser753Gly) n.478+21740T>C n.563+21740T>C c.2275A>G (p.Ser759Gly)	dbSNP
4	g.47936444T>G	CA356822923	CNGA1,NIPAL1	c.2038A>C (p.Ser680Arg) c.2050A>C (p.Ser684Arg) c.2257A>C (p.Ser753Arg) n.478+21740T>G n.563+21740T>G c.2275A>C (p.Ser759Arg)
4	g.47936444T=	CA1455551580	CNGA1,NIPAL1	c.2038A= (p.Ser680=) c.2050A= (p.Ser684=) c.2257A= (p.Ser753=) n.478+21740T= n.563+21740T= c.2275A= (p.Ser759=)

Number of alleles fetched