Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015294_8015483del	CA2740095253	GUCY2D	c.2770-34_2925del	ClinVar
17	g.8015342_8015355del	CA2576160484	GUCY2D	c.2784_2797del (p.Asp929GlyfsTer?)
17	g.8015350_8015361del	CA2576160485	GUCY2D	c.2792_2803del (p.Tyr931_Ala934del)
17	g.8015354G>A	CA397954352	GUCY2D	c.2796G>A (p.Met932Ile)
17	g.8015354G>C	CA397954353	GUCY2D	c.2796G>C (p.Met932Ile)
17	g.8015354G>T	CA397954354	GUCY2D	c.2796G>T (p.Met932Ile)
17	g.8015355G>A	CA397954355	GUCY2D	c.2797G>A (p.Val933Met)
17	g.8015355G>C	CA397954356	GUCY2D	c.2797G>C (p.Val933Leu)
17	g.8015355G>T	CA397954357	GUCY2D	c.2797G>T (p.Val933Leu)
17	g.8015356T>A	CA397954360	GUCY2D	c.2798T>A (p.Val933Glu)
17	g.8015356T>C	CA397954359	GUCY2D	c.2798T>C (p.Val933Ala)	ClinVar dbSNP
17	g.8015356T>G	CA397954358	GUCY2D	c.2798T>G (p.Val933Gly)
17	g.8015356T=	CA2246119705	GUCY2D	c.2798T= (p.Val933=)
17	g.8015357G>A	CA497753626	GUCY2D	c.2799G>A (p.Val933=)	dbSNP gnomAD v4
17	g.8015357G>C	CA497753627	GUCY2D	c.2799G>C (p.Val933=)
17	g.8015357G=	CA2246119711	GUCY2D	c.2799G= (p.Val933=)
17	g.8015357G>T	CA497753628	GUCY2D	c.2799G>T (p.Val933=)
17	g.8015358G>A	CA397954361	GUCY2D	c.2800G>A (p.Ala934Thr)	dbSNP gnomAD v2
17	g.8015358G>C	CA226097	GUCY2D	c.2800G>C (p.Ala934Pro)	ClinVar dbSNP
17	g.8015358G=	CA2246119716	GUCY2D	c.2800G= (p.Ala934=)
17	g.8015358G>T	CA397954362	GUCY2D	c.2800G>T (p.Ala934Ser)
17	g.8015359C>A	CA397954363	GUCY2D	c.2801C>A (p.Ala934Asp)
17	g.8015359C=	CA2246119719	GUCY2D	c.2801C= (p.Ala934=)
17	g.8015359C>G	CA397954364	GUCY2D	c.2801C>G (p.Ala934Gly)
17	g.8015359C>T	CA397954365	GUCY2D	c.2801C>T (p.Ala934Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8015360C>A	CA497753629	GUCY2D	c.2802C>A (p.Ala934=)
17	g.8015360C=	CA2246119725	GUCY2D	c.2802C= (p.Ala934=)
17	g.8015360C>G	CA497753630	GUCY2D	c.2802C>G (p.Ala934=)
17	g.8015360C>T	CA497753631	GUCY2D	c.2802C>T (p.Ala934=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015361T>A	CA397954366	GUCY2D	c.2803T>A (p.Ser935Thr)
17	g.8015361T>C	CA397954368	GUCY2D	c.2803T>C (p.Ser935Pro)
17	g.8015361T>G	CA397954369	GUCY2D	c.2803T>G (p.Ser935Ala)
17	g.8015362C>A	CA397954370	GUCY2D	c.2804C>A (p.Ser935Ter)	dbSNP
17	g.8015362C=	CA2246119732	GUCY2D	c.2804C= (p.Ser935=)
17	g.8015362C>G	CA397954372	GUCY2D	c.2804C>G (p.Ser935Trp)
17	g.8015362C>T	CA397954374	GUCY2D	c.2804C>T (p.Ser935Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015363G>A	CA8366233	GUCY2D	c.2805G>A (p.Ser935=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015363G>C	CA497753632	GUCY2D	c.2805G>C (p.Ser935=)
17	g.8015363G=	CA2246119739	GUCY2D	c.2805G= (p.Ser935=)
17	g.8015363G>T	CA497753633	GUCY2D	c.2805G>T (p.Ser935=)	dbSNP
17	g.8015364G>A	CA397954383	GUCY2D	c.2806G>A (p.Gly936Arg)
17	g.8015364G>C	CA397954380	GUCY2D	c.2806G>C (p.Gly936Arg)
17	g.8015364G>T	CA397954378	GUCY2D	c.2806G>T (p.Gly936Trp)	gnomAD v4
17	g.8015365G>A	CA397954384	GUCY2D	c.2807G>A (p.Gly936Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.8015365G>C	CA397954386	GUCY2D	c.2807G>C (p.Gly936Ala)
17	g.8015365G=	CA2246119743	GUCY2D	c.2807G= (p.Gly936=)
17	g.8015365G>T	CA397954388	GUCY2D	c.2807G>T (p.Gly936Val)	gnomAD v4
17	g.8015366G>A	CA497753634	GUCY2D	c.2808G>A (p.Gly936=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015366G>C	CA497753635	GUCY2D	c.2808G>C (p.Gly936=)	ClinVar gnomAD v4
17	g.8015366G=	CA2246119746	GUCY2D	c.2808G= (p.Gly936=)
17	g.8015366G>T	CA497753636	GUCY2D	c.2808G>T (p.Gly936=)	gnomAD v4
17	g.8015367C>A	CA397954390	GUCY2D	c.2809C>A (p.Leu937Met)
17	g.8015367C=	CA2246119747	GUCY2D	c.2809C= (p.Leu937=)
17	g.8015367C>G	CA397954392	GUCY2D	c.2809C>G (p.Leu937Val)
17	g.8015367C>T	CA497753637	GUCY2D	c.2809C>T (p.Leu937=)	dbSNP gnomAD v4
17	g.8015368del	CA645575845	GUCY2D	c.2810del (p.Leu937ArgfsTer?)	COSMIC
17	g.8015368T>A	CA397954395	GUCY2D	c.2810T>A (p.Leu937Gln)
17	g.8015368T>C	CA397954397	GUCY2D	c.2810T>C (p.Leu937Pro)
17	g.8015368T>G	CA397954399	GUCY2D	c.2810T>G (p.Leu937Arg)
17	g.8015369G>A	CA8366234	GUCY2D	c.2811G>A (p.Leu937=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015369G>C	CA497753638	GUCY2D	c.2811G>C (p.Leu937=)
17	g.8015369G=	CA2246119750	GUCY2D	c.2811G= (p.Leu937=)
17	g.8015369G>T	CA497753639	GUCY2D	c.2811G>T (p.Leu937=)	dbSNP gnomAD v4
17	g.8015370C>A	CA397954403	GUCY2D	c.2812C>A (p.Pro938Thr)
17	g.8015370C>G	CA397954405	GUCY2D	c.2812C>G (p.Pro938Ala)
17	g.8015370C>T	CA397954407	GUCY2D	c.2812C>T (p.Pro938Ser)	gnomAD v4 COSMIC
17	g.8015373del	CA2635953930	GUCY2D	c.2815del (p.Gln939SerfsTer?)	gnomAD v4
17	g.8015371C>A	CA397954412	GUCY2D	c.2813C>A (p.Pro938His)
17	g.8015371C=	CA2246119757	GUCY2D	c.2813C= (p.Pro938=)
17	g.8015371C>G	CA397954414	GUCY2D	c.2813C>G (p.Pro938Arg)	ClinVar dbSNP gnomAD v4
17	g.8015371C>T	CA397954410	GUCY2D	c.2813C>T (p.Pro938Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.8015372C>A	CA497753640	GUCY2D	c.2814C>A (p.Pro938=)
17	g.8015372C=	CA2246119768	GUCY2D	c.2814C= (p.Pro938=)
17	g.8015372C>G	CA497753641	GUCY2D	c.2814C>G (p.Pro938=)
17	g.8015372C>T	CA497753642	GUCY2D	c.2814C>T (p.Pro938=)	dbSNP gnomAD v2
17	g.8015373C>A	CA397954417	GUCY2D	c.2815C>A (p.Gln939Lys)
17	g.8015373C>G	CA397954419	GUCY2D	c.2815C>G (p.Gln939Glu)
17	g.8015373C>T	CA397954421	GUCY2D	c.2815C>T (p.Gln939Ter)	gnomAD v4
17	g.8015374A>C	CA397954424	GUCY2D	c.2816A>C (p.Gln939Pro)
17	g.8015374A>G	CA397954425	GUCY2D	c.2816A>G (p.Gln939Arg)	gnomAD v4
17	g.8015374A>T	CA397954427	GUCY2D	c.2816A>T (p.Gln939Leu)
17	g.8015375G>A	CA497753643	GUCY2D	c.2817G>A (p.Gln939=)
17	g.8015375G>C	CA397954429	GUCY2D	c.2817G>C (p.Gln939His)	dbSNP gnomAD v2 gnomAD v4
17	g.8015375G=	CA2246119774	GUCY2D	c.2817G= (p.Gln939=)
17	g.8015375G>T	CA397954431	GUCY2D	c.2817G>T (p.Gln939His)
17	g.8015376C>A	CA497753644	GUCY2D	c.2818C>A (p.Arg940=)	dbSNP gnomAD v3 gnomAD v4
17	g.8015376C=	CA2246119787	GUCY2D	c.2818C= (p.Arg940=)
17	g.8015376C>G	CA397954434	GUCY2D	c.2818C>G (p.Arg940Gly)
17	g.8015376C>T	CA8366235	GUCY2D	c.2818C>T (p.Arg940Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015377G>A	CA397954438	GUCY2D	c.2819G>A (p.Arg940Gln)	dbSNP gnomAD v2 COSMIC
17	g.8015377G>C	CA397954440	GUCY2D	c.2819G>C (p.Arg940Pro)
17	g.8015377G=	CA2246119794	GUCY2D	c.2819G= (p.Arg940=)
17	g.8015377G>T	CA397954442	GUCY2D	c.2819G>T (p.Arg940Leu)	gnomAD v4
17	g.8015378G>A	CA497753645	GUCY2D	c.2820G>A (p.Arg940=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015378G>C	CA497753646	GUCY2D	c.2820G>C (p.Arg940=)
17	g.8015378G=	CA2246119800	GUCY2D	c.2820G= (p.Arg940=)
17	g.8015378G>T	CA497753647	GUCY2D	c.2820G>T (p.Arg940=)
17	g.8015379A>C	CA397954450	GUCY2D	c.2821A>C (p.Asn941His)
17	g.8015379A>G	CA397954448	GUCY2D	c.2821A>G (p.Asn941Asp)
17	g.8015379A>T	CA397954445	GUCY2D	c.2821A>T (p.Asn941Tyr)
17	g.8015380A>C	CA397954452	GUCY2D	c.2822A>C (p.Asn941Thr)
17	g.8015380A>G	CA397954454	GUCY2D	c.2822A>G (p.Asn941Ser)
17	g.8015380A>T	CA397954456	GUCY2D	c.2822A>T (p.Asn941Ile)
17	g.8015381T>A	CA397954458	GUCY2D	c.2823T>A (p.Asn941Lys)
17	g.8015381T>C	CA8366236	GUCY2D	c.2823T>C (p.Asn941=)	ClinVar dbSNP ExAC gnomAD v2
17	g.8015381T>G	CA397954462	GUCY2D	c.2823T>G (p.Asn941Lys)
17	g.8015381T=	CA2246119803	GUCY2D	c.2823T= (p.Asn941=)
17	g.8015382G>A	CA397954465	GUCY2D	c.2824G>A (p.Gly942Arg)
17	g.8015382G>C	CA397954467	GUCY2D	c.2824G>C (p.Gly942Arg)
17	g.8015382G>T	CA397954468	GUCY2D	c.2824G>T (p.Gly942Trp)
17	g.8015383G>A	CA397954471	GUCY2D	c.2825G>A (p.Gly942Glu)
17	g.8015383G>C	CA397954473	GUCY2D	c.2825G>C (p.Gly942Ala)
17	g.8015383G>T	CA397954476	GUCY2D	c.2825G>T (p.Gly942Val)
17	g.8015384G>A	CA497753648	GUCY2D	c.2826G>A (p.Gly942=)
17	g.8015384G>C	CA497753649	GUCY2D	c.2826G>C (p.Gly942=)
17	g.8015384G>T	CA497753650	GUCY2D	c.2826G>T (p.Gly942=)
17	g.8015385C>A	CA397954483	GUCY2D	c.2827C>A (p.Gln943Lys)
17	g.8015385C>G	CA397954481	GUCY2D	c.2827C>G (p.Gln943Glu)
17	g.8015385C>T	CA397954479	GUCY2D	c.2827C>T (p.Gln943Ter)	COSMIC
17	g.8015386A>C	CA397954486	GUCY2D	c.2828A>C (p.Gln943Pro)
17	g.8015386A>G	CA397954494	GUCY2D	c.2828A>G (p.Gln943Arg)
17	g.8015386A>T	CA397954492	GUCY2D	c.2828A>T (p.Gln943Leu)
17	g.8015387G>A	CA497753651	GUCY2D	c.2829G>A (p.Gln943=)
17	g.8015387G>C	CA397954496	GUCY2D	c.2829G>C (p.Gln943His)
17	g.8015387G>T	CA397954498	GUCY2D	c.2829G>T (p.Gln943His)	gnomAD v4
17	g.8015388C>A	CA8366237	GUCY2D	c.2830C>A (p.Arg944=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015388C=	CA2246119812	GUCY2D	c.2830C= (p.Arg944=)
17	g.8015388C>G	CA8366238	GUCY2D	c.2830C>G (p.Arg944Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015388C>T	CA397954504	GUCY2D	c.2830C>T (p.Arg944Ter)	dbSNP gnomAD v3 gnomAD v4
17	g.8015389G>A	CA8366239	GUCY2D	c.2831G>A (p.Arg944Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015389G>C	CA397954507	GUCY2D	c.2831G>C (p.Arg944Pro)
17	g.8015389G=	CA2246119818	GUCY2D	c.2831G= (p.Arg944=)
17	g.8015389G>T	CA397954510	GUCY2D	c.2831G>T (p.Arg944Leu)	gnomAD v4
17	g.8015390A>C	CA497753652	GUCY2D	c.2832A>C (p.Arg944=)
17	g.8015390A>G	CA497753653	GUCY2D	c.2832A>G (p.Arg944=)
17	g.8015390A>T	CA497753654	GUCY2D	c.2832A>T (p.Arg944=)
17	g.8015391C>A	CA397954513	GUCY2D	c.2833C>A (p.His945Asn)
17	g.8015391C>G	CA397954514	GUCY2D	c.2833C>G (p.His945Asp)
17	g.8015391C>T	CA397954516	GUCY2D	c.2833C>T (p.His945Tyr)	gnomAD v4
17	g.8015392A>C	CA397954519	GUCY2D	c.2834A>C (p.His945Pro)
17	g.8015392A>G	CA397954521	GUCY2D	c.2834A>G (p.His945Arg)	gnomAD v4
17	g.8015392A>T	CA397954524	GUCY2D	c.2834A>T (p.His945Leu)
17	g.8015393C>A	CA397954528	GUCY2D	c.2835C>A (p.His945Gln)
17	g.8015393C>G	CA397954526	GUCY2D	c.2835C>G (p.His945Gln)	gnomAD v4
17	g.8015393C>T	CA497753655	GUCY2D	c.2835C>T (p.His945=)	ClinVar gnomAD v4
17	g.8015394G>A	CA397954531	GUCY2D	c.2836G>A (p.Ala946Thr)	ClinVar dbSNP
17	g.8015394G>C	CA397954533	GUCY2D	c.2836G>C (p.Ala946Pro)	ClinVar
17	g.8015394G=	CA2246119825	GUCY2D	c.2836G= (p.Ala946=)
17	g.8015394G>T	CA397954535	GUCY2D	c.2836G>T (p.Ala946Ser)	ClinVar dbSNP
17	g.8015395C>A	CA397954538	GUCY2D	c.2837C>A (p.Ala946Glu)	ClinVar dbSNP gnomAD v4
17	g.8015395C=	CA2246119839	GUCY2D	c.2837C= (p.Ala946=)
17	g.8015395C>G	CA397954540	GUCY2D	c.2837C>G (p.Ala946Gly)
17	g.8015395C>T	CA226099	GUCY2D	c.2837C>T (p.Ala946Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015396G>A	CA8366240	GUCY2D	c.2838G>A (p.Ala946=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015396G>C	CA497753656	GUCY2D	c.2838G>C (p.Ala946=)	ClinVar
17	g.8015396G=	CA2246119842	GUCY2D	c.2838G= (p.Ala946=)
17	g.8015396G>T	CA497753657	GUCY2D	c.2838G>T (p.Ala946=)	gnomAD v4
17	g.8015397G>A	CA397954547	GUCY2D	c.2839G>A (p.Ala947Thr)	dbSNP
17	g.8015397G>C	CA397954549	GUCY2D	c.2839G>C (p.Ala947Pro)
17	g.8015397G=	CA2246119845	GUCY2D	c.2839G= (p.Ala947=)
17	g.8015397G>T	CA397954551	GUCY2D	c.2839G>T (p.Ala947Ser)	dbSNP
17	g.8015398C>A	CA397954555	GUCY2D	c.2840C>A (p.Ala947Glu)
17	g.8015398C=	CA2246119858	GUCY2D	c.2840C= (p.Ala947=)
17	g.8015398C>G	CA397954556	GUCY2D	c.2840C>G (p.Ala947Gly)
17	g.8015398C>T	CA397954557	GUCY2D	c.2840C>T (p.Ala947Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8015399A=	CA2246119862	GUCY2D	c.2841A= (p.Ala947=)
17	g.8015399A>C	CA497753658	GUCY2D	c.2841A>C (p.Ala947=)
17	g.8015399A>G	CA497753659	GUCY2D	c.2841A>G (p.Ala947=)	dbSNP gnomAD v4
17	g.8015399A>T	CA497753660	GUCY2D	c.2841A>T (p.Ala947=)
17	g.8015400G>A	CA397954561	GUCY2D	c.2842G>A (p.Glu948Lys)	ClinVar dbSNP
17	g.8015400G>C	CA397954565	GUCY2D	c.2842G>C (p.Glu948Gln)
17	g.8015400G>T	CA397954562	GUCY2D	c.2842G>T (p.Glu948Ter)
17	g.8015401A>C	CA397954567	GUCY2D	c.2843A>C (p.Glu948Ala)
17	g.8015401A>G	CA397954570	GUCY2D	c.2843A>G (p.Glu948Gly)
17	g.8015401A>T	CA397954572	GUCY2D	c.2843A>T (p.Glu948Val)
17	g.8015402G>A	CA497753661	GUCY2D	c.2844G>A (p.Glu948=)
17	g.8015402G>C	CA397954575	GUCY2D	c.2844G>C (p.Glu948Asp)
17	g.8015402G>T	CA397954577	GUCY2D	c.2844G>T (p.Glu948Asp)
17	g.8015403A>C	CA397954580	GUCY2D	c.2845A>C (p.Ile949Leu)	ClinVar
17	g.8015403A>G	CA397954581	GUCY2D	c.2845A>G (p.Ile949Val)
17	g.8015403A>T	CA397954583	GUCY2D	c.2845A>T (p.Ile949Phe)
17	g.8015404T>A	CA397954585	GUCY2D	c.2846T>A (p.Ile949Asn)
17	g.8015404T>C	CA250578	GUCY2D	c.2846T>C (p.Ile949Thr)	ClinVar dbSNP
17	g.8015404T>G	CA397954588	GUCY2D	c.2846T>G (p.Ile949Ser)
17	g.8015404T=	CA2246119869	GUCY2D	c.2846T= (p.Ile949=)
17	g.8015405C>A	CA497753663	GUCY2D	c.2847C>A (p.Ile949=)
17	g.8015405C>G	CA397954590	GUCY2D	c.2847C>G (p.Ile949Met)	gnomAD v4
17	g.8015405C>T	CA497753662	GUCY2D	c.2847C>T (p.Ile949=)	gnomAD v4
17	g.8015406G>A	CA397954597	GUCY2D	c.2848G>A (p.Ala950Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015406G>C	CA397954593	GUCY2D	c.2848G>C (p.Ala950Pro)
17	g.8015406G=	CA2246119879	GUCY2D	c.2848G= (p.Ala950=)
17	g.8015406G>T	CA397954595	GUCY2D	c.2848G>T (p.Ala950Ser)
17	g.8015407C>A	CA397954599	GUCY2D	c.2849C>A (p.Ala950Asp)
17	g.8015407C=	CA2246119887	GUCY2D	c.2849C= (p.Ala950=)
17	g.8015407C>G	CA397954600	GUCY2D	c.2849C>G (p.Ala950Gly)
17	g.8015407C>T	CA226101	GUCY2D	c.2849C>T (p.Ala950Val)	ClinVar dbSNP gnomAD v4
17	g.8015408C>A	CA8366242	GUCY2D	c.2850C>A (p.Ala950=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015408C=	CA2246119896	GUCY2D	c.2850C= (p.Ala950=)
17	g.8015408C>G	CA497753664	GUCY2D	c.2850C>G (p.Ala950=)
17	g.8015408C>T	CA8366241	GUCY2D	c.2850C>T (p.Ala950=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015409A>C	CA397954610	GUCY2D	c.2851A>C (p.Asn951His)
17	g.8015409A>G	CA397954612	GUCY2D	c.2851A>G (p.Asn951Asp)
17	g.8015409A>T	CA397954614	GUCY2D	c.2851A>T (p.Asn951Tyr)
17	g.8015410A=	CA2246119902	GUCY2D	c.2852A= (p.Asn951=)
17	g.8015410A>C	CA397954617	GUCY2D	c.2852A>C (p.Asn951Thr)
17	g.8015410A>G	CA397954619	GUCY2D	c.2852A>G (p.Asn951Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015410A>T	CA397954621	GUCY2D	c.2852A>T (p.Asn951Ile)
17	g.8015411C>A	CA397954626	GUCY2D	c.2853C>A (p.Asn951Lys)
17	g.8015411C>G	CA397954624	GUCY2D	c.2853C>G (p.Asn951Lys)
17	g.8015411C>T	CA497753665	GUCY2D	c.2853C>T (p.Asn951=)	gnomAD v4
17	g.8015412A>C	CA397954629	GUCY2D	c.2854A>C (p.Met952Leu)
17	g.8015412A>G	CA397954633	GUCY2D	c.2854A>G (p.Met952Val)	gnomAD v4
17	g.8015412A>T	CA397954631	GUCY2D	c.2854A>T (p.Met952Leu)
17	g.8015413T>A	CA397954636	GUCY2D	c.2855T>A (p.Met952Lys)
17	g.8015413T>C	CA397954638	GUCY2D	c.2855T>C (p.Met952Thr)	gnomAD v4
17	g.8015413T>G	CA397954639	GUCY2D	c.2855T>G (p.Met952Arg)
17	g.8015414G>A	CA397954642	GUCY2D	c.2856G>A (p.Met952Ile)	gnomAD v4
17	g.8015414G>C	CA397954644	GUCY2D	c.2856G>C (p.Met952Ile)
17	g.8015414G>T	CA397954646	GUCY2D	c.2856G>T (p.Met952Ile)
17	g.8015415T>A	CA397954648	GUCY2D	c.2857T>A (p.Ser953Thr)
17	g.8015415T>C	CA397954650	GUCY2D	c.2857T>C (p.Ser953Pro)
17	g.8015415T>G	CA397954653	GUCY2D	c.2857T>G (p.Ser953Ala)
17	g.8015416C>A	CA397954655	GUCY2D	c.2858C>A (p.Ser953Ter)
17	g.8015416C>G	CA397954658	GUCY2D	c.2858C>G (p.Ser953Ter)
17	g.8015416C>T	CA397954660	GUCY2D	c.2858C>T (p.Ser953Leu)
17	g.8015417A>C	CA497753666	GUCY2D	c.2859A>C (p.Ser953=)
17	g.8015417A>G	CA497753667	GUCY2D	c.2859A>G (p.Ser953=)
17	g.8015417A>T	CA497753668	GUCY2D	c.2859A>T (p.Ser953=)	ClinVar gnomAD v4
17	g.8015418C>A	CA397954662	GUCY2D	c.2860C>A (p.Leu954Met)
17	g.8015418C=	CA2246119910	GUCY2D	c.2860C= (p.Leu954=)
17	g.8015418C>G	CA397954661	GUCY2D	c.2860C>G (p.Leu954Val)	ClinVar dbSNP
17	g.8015418C>T	CA8366243	GUCY2D	c.2860C>T (p.Leu954=)	ClinVar dbSNP ExAC gnomAD v4
17	g.8015419T>A	CA397954663	GUCY2D	c.2861T>A (p.Leu954Gln)	gnomAD v4
17	g.8015419T>C	CA226103	GUCY2D	c.2861T>C (p.Leu954Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015419T>G	CA397954664	GUCY2D	c.2861T>G (p.Leu954Arg)
17	g.8015419T=	CA2246119922	GUCY2D	c.2861T= (p.Leu954=)
17	g.8015420G>A	CA497753669	GUCY2D	c.2862G>A (p.Leu954=)
17	g.8015420G>C	CA497753670	GUCY2D	c.2862G>C (p.Leu954=)
17	g.8015420G>T	CA497753671	GUCY2D	c.2862G>T (p.Leu954=)
17	g.8015421G>A	CA8366244	GUCY2D	c.2863G>A (p.Asp955Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015421G>C	CA397954665	GUCY2D	c.2863G>C (p.Asp955His)
17	g.8015421G=	CA2246119927	GUCY2D	c.2863G= (p.Asp955=)
17	g.8015421G>T	CA397954666	GUCY2D	c.2863G>T (p.Asp955Tyr)	gnomAD v4
17	g.8015422A=	CA2246119930	GUCY2D	c.2864A= (p.Asp955=)
17	g.8015422A>C	CA397954667	GUCY2D	c.2864A>C (p.Asp955Ala)
17	g.8015422A>G	CA397954668	GUCY2D	c.2864A>G (p.Asp955Gly)	dbSNP
17	g.8015422A>T	CA397954669	GUCY2D	c.2864A>T (p.Asp955Val)
17	g.8015423C>A	CA397954670	GUCY2D	c.2865C>A (p.Asp955Glu)
17	g.8015423C=	CA2246119934	GUCY2D	c.2865C= (p.Asp955=)
17	g.8015423C>G	CA397954671	GUCY2D	c.2865C>G (p.Asp955Glu)
17	g.8015423C>T	CA497753672	GUCY2D	c.2865C>T (p.Asp955=)	dbSNP
17	g.8015424A=	CA2246119938	GUCY2D	c.2866A= (p.Ile956=)
17	g.8015424A>C	CA397954673	GUCY2D	c.2866A>C (p.Ile956Leu)
17	g.8015424A>G	CA397954674	GUCY2D	c.2866A>G (p.Ile956Val)
17	g.8015424A>T	CA397954672	GUCY2D	c.2866A>T (p.Ile956Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.8015425T>A	CA397954675	GUCY2D	c.2867T>A (p.Ile956Asn)	ClinVar
17	g.8015425T>C	CA397954676	GUCY2D	c.2867T>C (p.Ile956Thr)
17	g.8015425T>G	CA397954677	GUCY2D	c.2867T>G (p.Ile956Ser)	gnomAD v4
17	g.8015426C>A	CA497753674	GUCY2D	c.2868C>A (p.Ile956=)
17	g.8015426C>G	CA397954678	GUCY2D	c.2868C>G (p.Ile956Met)
17	g.8015426C>T	CA497753673	GUCY2D	c.2868C>T (p.Ile956=)	gnomAD v4
17	g.8015427C>A	CA397954681	GUCY2D	c.2869C>A (p.Leu957Ile)
17	g.8015427C>G	CA397954683	GUCY2D	c.2869C>G (p.Leu957Val)
17	g.8015427C>T	CA397954684	GUCY2D	c.2869C>T (p.Leu957Phe)
17	g.8015428T>A	CA397954688	GUCY2D	c.2870T>A (p.Leu957His)
17	g.8015428T>C	CA397954690	GUCY2D	c.2870T>C (p.Leu957Pro)
17	g.8015428T>G	CA397954692	GUCY2D	c.2870T>G (p.Leu957Arg)
17	g.8015429del	CA2573154817	GUCY2D	c.2871del (p.Ser958ValfsTer20)	ClinVar dbSNP
17	g.8015429C>A	CA497753675	GUCY2D	c.2871C>A (p.Leu957=)	ClinVar
17	g.8015429C>G	CA497753677	GUCY2D	c.2871C>G (p.Leu957=)
17	g.8015429C>T	CA497753676	GUCY2D	c.2871C>T (p.Leu957=)	gnomAD v4
17	g.8015430A>C	CA397954695	GUCY2D	c.2872A>C (p.Ser958Arg)	ClinVar dbSNP gnomAD v4
17	g.8015430A>G	CA397954697	GUCY2D	c.2872A>G (p.Ser958Gly)	gnomAD v4
17	g.8015430A>T	CA397954699	GUCY2D	c.2872A>T (p.Ser958Cys)
17	g.8015431G>A	CA397954706	GUCY2D	c.2873G>A (p.Ser958Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8015431G>C	CA397954704	GUCY2D	c.2873G>C (p.Ser958Thr)
17	g.8015431G=	CA2246119951	GUCY2D	c.2873G= (p.Ser958=)
17	g.8015431G>T	CA397954702	GUCY2D	c.2873G>T (p.Ser958Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015432_8015433del	CA2635954076	GUCY2D	c.2874_2875del (p.Ala959ArgfsTer11)	gnomAD v4
17	g.8015432T>A	CA397954708	GUCY2D	c.2874T>A (p.Ser958Arg)
17	g.8015432T>C	CA497753678	GUCY2D	c.2874T>C (p.Ser958=)
17	g.8015432T>G	CA397954711	GUCY2D	c.2874T>G (p.Ser958Arg)
17	g.8015433G>A	CA8366245	GUCY2D	c.2875G>A (p.Ala959Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015433G>C	CA397954713	GUCY2D	c.2875G>C (p.Ala959Pro)
17	g.8015433G=	CA2246119959	GUCY2D	c.2875G= (p.Ala959=)
17	g.8015433G>T	CA397954715	GUCY2D	c.2875G>T (p.Ala959Ser)	gnomAD v4
17	g.8015434C>A	CA397954718	GUCY2D	c.2876C>A (p.Ala959Asp)	dbSNP
17	g.8015434C=	CA2246119966	GUCY2D	c.2876C= (p.Ala959=)
17	g.8015434C>G	CA397954720	GUCY2D	c.2876C>G (p.Ala959Gly)
17	g.8015434C>T	CA397954723	GUCY2D	c.2876C>T (p.Ala959Val)	gnomAD v4
17	g.8015435C>A	CA497753679	GUCY2D	c.2877C>A (p.Ala959=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8015435C=	CA2246119974	GUCY2D	c.2877C= (p.Ala959=)
17	g.8015435C>G	CA497753680	GUCY2D	c.2877C>G (p.Ala959=)
17	g.8015435C>T	CA497753681	GUCY2D	c.2877C>T (p.Ala959=)	ClinVar dbSNP gnomAD v4
17	g.8015435_8015436del	CA2635954094	GUCY2D	c.2877_2878del (p.Val960GlyfsTer10)	gnomAD v4
17	g.8015435_8015439del	CA2635954095	GUCY2D	c.2877_2881del (p.Val960HisfsTer9)	gnomAD v4
17	g.8015436G>A	CA8366246	GUCY2D	c.2878G>A (p.Val960Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015436G>C	CA397954726	GUCY2D	c.2878G>C (p.Val960Leu)	ClinVar
17	g.8015436G=	CA2246119988	GUCY2D	c.2878G= (p.Val960=)
17	g.8015436G>T	CA397954729	GUCY2D	c.2878G>T (p.Val960Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8015437T>A	CA397954731	GUCY2D	c.2879T>A (p.Val960Glu)
17	g.8015437T>C	CA397954733	GUCY2D	c.2879T>C (p.Val960Ala)
17	g.8015437T>G	CA397954735	GUCY2D	c.2879T>G (p.Val960Gly)
17	g.8015438G>A	CA497753682	GUCY2D	c.2880G>A (p.Val960=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015438G>C	CA497753683	GUCY2D	c.2880G>C (p.Val960=)
17	g.8015438G=	CA2246119994	GUCY2D	c.2880G= (p.Val960=)
17	g.8015438G>T	CA497753684	GUCY2D	c.2880G>T (p.Val960=)
17	g.8015439G>A	CA397954739	GUCY2D	c.2881G>A (p.Gly961Ser)
17	g.8015439G>C	CA397954741	GUCY2D	c.2881G>C (p.Gly961Arg)	ClinVar dbSNP
17	g.8015439G>T	CA397954737	GUCY2D	c.2881G>T (p.Gly961Cys)	gnomAD v4
17	g.8015440G>A	CA397954744	GUCY2D	c.2882G>A (p.Gly961Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.8015440G>C	CA397954748	GUCY2D	c.2882G>C (p.Gly961Ala)
17	g.8015440G=	CA2246119999	GUCY2D	c.2882G= (p.Gly961=)
17	g.8015440G>T	CA397954745	GUCY2D	c.2882G>T (p.Gly961Val)	ClinVar
17	g.8015441C>A	CA497753685	GUCY2D	c.2883C>A (p.Gly961=)
17	g.8015441C=	CA2246120004	GUCY2D	c.2883C= (p.Gly961=)
17	g.8015441C>G	CA497753686	GUCY2D	c.2883C>G (p.Gly961=)
17	g.8015441C>T	CA8366247	GUCY2D	c.2883C>T (p.Gly961=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015442A>C	CA397954751	GUCY2D	c.2884A>C (p.Thr962Pro)
17	g.8015442A>G	CA397954753	GUCY2D	c.2884A>G (p.Thr962Ala)
17	g.8015442A>T	CA397954755	GUCY2D	c.2884A>T (p.Thr962Ser)
17	g.8015442_8015443delinsAC	CA2246120006	GUCY2D	c.2884_2885delinsAC (p.Thr962=)
17	g.8015443del	CA287533747	GUCY2D	c.2885del (p.Thr962IlefsTer16)	dbSNP
17	g.8015443C>A	CA397954759	GUCY2D	c.2885C>A (p.Thr962Asn)
17	g.8015443C>G	CA397954761	GUCY2D	c.2885C>G (p.Thr962Ser)	gnomAD v4
17	g.8015443C>T	CA397954763	GUCY2D	c.2885C>T (p.Thr962Ile)
17	g.8015444T>A	CA497753688	GUCY2D	c.2886T>A (p.Thr962=)
17	g.8015444T>C	CA497753689	GUCY2D	c.2886T>C (p.Thr962=)
17	g.8015444T>G	CA497753687	GUCY2D	c.2886T>G (p.Thr962=)
17	g.8015445T>A	CA397954765	GUCY2D	c.2887T>A (p.Phe963Ile)
17	g.8015445T>C	CA397954770	GUCY2D	c.2887T>C (p.Phe963Leu)
17	g.8015445T>G	CA397954767	GUCY2D	c.2887T>G (p.Phe963Val)
17	g.8015446T>A	CA397954772	GUCY2D	c.2888T>A (p.Phe963Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.8015446T>C	CA287533750	GUCY2D	c.2888T>C (p.Phe963Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015446T>G	CA397954776	GUCY2D	c.2888T>G (p.Phe963Cys)
17	g.8015446T=	CA2246120016	GUCY2D	c.2888T= (p.Phe963=)
17	g.8015447C>A	CA397954779	GUCY2D	c.2889C>A (p.Phe963Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015447C=	CA2246120045	GUCY2D	c.2889C= (p.Phe963=)
17	g.8015447C>G	CA397954781	GUCY2D	c.2889C>G (p.Phe963Leu)
17	g.8015447C>T	CA497753690	GUCY2D	c.2889C>T (p.Phe963=)
17	g.8015448C>A	CA397954784	GUCY2D	c.2890C>A (p.Arg964Ser)
17	g.8015448C=	CA2246120056	GUCY2D	c.2890C= (p.Arg964=)
17	g.8015448C>G	CA397954787	GUCY2D	c.2890C>G (p.Arg964Gly)
17	g.8015448C>T	CA287533751	GUCY2D	c.2890C>T (p.Arg964Cys)	dbSNP gnomAD v4 COSMIC
17	g.8015449G>A	CA397954790	GUCY2D	c.2891G>A (p.Arg964His)	dbSNP gnomAD v2 gnomAD v4
17	g.8015449G>C	CA397954791	GUCY2D	c.2891G>C (p.Arg964Pro)
17	g.8015449G=	CA2246120073	GUCY2D	c.2891G= (p.Arg964=)
17	g.8015449G>T	CA397954792	GUCY2D	c.2891G>T (p.Arg964Leu)	gnomAD v4
17	g.8015450C>A	CA497753691	GUCY2D	c.2892C>A (p.Arg964=)	ClinVar
17	g.8015450C=	CA2246120081	GUCY2D	c.2892C= (p.Arg964=)
17	g.8015450C>G	CA8366248	GUCY2D	c.2892C>G (p.Arg964=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015450C>T	CA497753692	GUCY2D	c.2892C>T (p.Arg964=)
17	g.8015451A=	CA2246120090	GUCY2D	c.2893A= (p.Met965=)
17	g.8015451A>C	CA8366249	GUCY2D	c.2893A>C (p.Met965Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015451A>G	CA397954796	GUCY2D	c.2893A>G (p.Met965Val)	gnomAD v4
17	g.8015451A>T	CA397954798	GUCY2D	c.2893A>T (p.Met965Leu)
17	g.8015452T>A	CA397954801	GUCY2D	c.2894T>A (p.Met965Lys)
17	g.8015452T>C	CA397954803	GUCY2D	c.2894T>C (p.Met965Thr)
17	g.8015452T>G	CA397954805	GUCY2D	c.2894T>G (p.Met965Arg)
17	g.8015453G>A	CA397954807	GUCY2D	c.2895G>A (p.Met965Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.8015453G>C	CA397954809	GUCY2D	c.2895G>C (p.Met965Ile)
17	g.8015453G=	CA2246120097	GUCY2D	c.2895G= (p.Met965=)
17	g.8015453G>T	CA397954811	GUCY2D	c.2895G>T (p.Met965Ile)
17	g.8015454C>A	CA397954813	GUCY2D	c.2896C>A (p.Arg966Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015454C=	CA2246120101	GUCY2D	c.2896C= (p.Arg966=)
17	g.8015454C>G	CA287533776	GUCY2D	c.2896C>G (p.Arg966Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015454C>T	CA397954815	GUCY2D	c.2896C>T (p.Arg966Cys)	gnomAD v4

Number of alleles fetched