Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015294_8015483del	CA2740095253	GUCY2D	c.2770-34_2925del	ClinVar
17	g.8015307C>A	CA2635953764	GUCY2D	c.2770-21C>A (n.2770-21C>A)	gnomAD v4
17	g.8015308A>C	CA2740095254	GUCY2D	c.2770-20A>C (n.2770-20A>C)	ClinVar
17	g.8015309C=	CA2246119547	GUCY2D	c.2770-19C= (n.2770-19C=)
17	g.8015309C>T	CA287533578	GUCY2D	c.2770-19C>T (n.2770-19C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.8015311_8015314delinsACTC	CA2246119552	GUCY2D	c.2770-17_2770-14delinsACTC (n.2770-17_2770-14delinsACTC)
17	g.8015312C=	CA2246119563	GUCY2D	c.2770-16C= (n.2770-16C=)
17	g.8015312C>G	CA2246119561	GUCY2D	c.2770-16C>G (n.2770-16C>G)	dbSNP
17	g.8015312C>T	CA2246119555	GUCY2D	c.2770-16C>T (n.2770-16C>T)	ClinVar dbSNP gnomAD v4
17	g.8015314_8015316del	CA8366224	GUCY2D	c.2770-14_2770-12del (n.2770-14_2770-12del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015313T>A	CA2246119567	GUCY2D	c.2770-15T>A (n.2770-15T>A)	dbSNP gnomAD v4
17	g.8015313T=	CA2246119569	GUCY2D	c.2770-15T= (n.2770-15T=)
17	g.8015314C>A	CA2246119575	GUCY2D	c.2770-14C>A (n.2770-14C>A)	dbSNP
17	g.8015314C=	CA2246119573	GUCY2D	c.2770-14C= (n.2770-14C=)
17	g.8015314C>T	CA2635953776	GUCY2D	c.2770-14C>T (n.2770-14C>T)	gnomAD v4
17	g.8015314_8015317delinsCCTT	CA2246119572	GUCY2D	c.2770-14_2770-11delinsCCTT (n.2770-14_2770-11delinsCCTT)
17	g.8015315C>T	CA2740095255	GUCY2D	c.2770-13C>T (n.2770-13C>T)	ClinVar
17	g.8015319_8015321del	CA624867963	GUCY2D	c.2770-9_2770-7del (n.2770-9_2770-7del)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015316T>A	CA2635953781	GUCY2D	c.2770-12T>A (n.2770-12T>A)	gnomAD v4
17	g.8015316T>C	CA624867964	GUCY2D	c.2770-12T>C (n.2770-12T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015316T=	CA2246119581	GUCY2D	c.2770-12T= (n.2770-12T=)
17	g.8015318C>A	CA624867965	GUCY2D	c.2770-10C>A (n.2770-10C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.8015318C=	CA2246119585	GUCY2D	c.2770-10C= (n.2770-10C=)
17	g.8015318C>T	CA2246119588	GUCY2D	c.2770-10C>T (n.2770-10C>T)	ClinVar dbSNP gnomAD v4
17	g.8015321C>A	CA2635953790	GUCY2D	c.2770-7C>A (n.2770-7C>A)	ClinVar gnomAD v4
17	g.8015321C=	CA2246119590	GUCY2D	c.2770-7C= (n.2770-7C=)
17	g.8015321C>T	CA8366225	GUCY2D	c.2770-7C>T (n.2770-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015325dup	CA2635953789	GUCY2D	c.2770-3dup (n.2770-3dup)	gnomAD v4
17	g.8015322C>A	CA2635953796	GUCY2D	c.2770-6C>A (n.2770-6C>A)	gnomAD v4
17	g.8015322C=	CA2246119597	GUCY2D	c.2770-6C= (n.2770-6C=)
17	g.8015322C>G	CA2635953799	GUCY2D	c.2770-6C>G (n.2770-6C>G)	gnomAD v4
17	g.8015322C>T	CA2246119602	GUCY2D	c.2770-6C>T (n.2770-6C>T)	dbSNP gnomAD v4
17	g.8015323C=	CA2246119605	GUCY2D	c.2770-5C= (n.2770-5C=)
17	g.8015323C>G	CA624867966	GUCY2D	c.2770-5C>G (n.2770-5C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.8015323C>T	CA2635953810	GUCY2D	c.2770-5C>T (n.2770-5C>T)	gnomAD v4
17	g.8015324C=	CA2246119608	GUCY2D	c.2770-4C= (n.2770-4C=)
17	g.8015324C>G	CA2740095256	GUCY2D	c.2770-4C>G (n.2770-4C>G)	ClinVar
17	g.8015324C>T	CA981232390	GUCY2D	c.2770-4C>T (n.2770-4C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8015326A=	CA2246119611	GUCY2D	c.2770-2A= (n.2770-2A=)
17	g.8015326A>C	CA397954291	GUCY2D	c.2770-2A>C (n.2770-2A>C)
17	g.8015326A>G	CA397954292	GUCY2D	c.2770-2A>G (n.2770-2A>G)	ClinVar dbSNP gnomAD v4
17	g.8015326A>T	CA397954293	GUCY2D	c.2770-2A>T (n.2770-2A>T)
17	g.8015327G>A	CA397954294	GUCY2D	c.2770-1G>A (n.2770-1G>A)
17	g.8015327G>C	CA397954295	GUCY2D	c.2770-1G>C (n.2770-1G>C)	ClinVar dbSNP
17	g.8015327G=	CA2246119619	GUCY2D	c.2770-1G= (n.2770-1G=)
17	g.8015327G>T	CA397954296	GUCY2D	c.2770-1G>T (n.2770-1G>T)	gnomAD v4
17	g.8015328G>A	CA397954297	GUCY2D	c.2770G>A (p.Val924Met)
17	g.8015328G>C	CA397954298	GUCY2D	c.2770G>C (p.Val924Leu)	gnomAD v4
17	g.8015328G>T	CA397954299	GUCY2D	c.2770G>T (p.Val924Leu)
17	g.8015329T>A	CA397954302	GUCY2D	c.2771T>A (p.Val924Glu)
17	g.8015329T>C	CA397954301	GUCY2D	c.2771T>C (p.Val924Ala)
17	g.8015329T>G	CA397954300	GUCY2D	c.2771T>G (p.Val924Gly)
17	g.8015330G>A	CA497753612	GUCY2D	c.2772G>A (p.Val924=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015330G>C	CA497753613	GUCY2D	c.2772G>C (p.Val924=)
17	g.8015330G=	CA2246119627	GUCY2D	c.2772G= (p.Val924=)
17	g.8015330G>T	CA497753614	GUCY2D	c.2772G>T (p.Val924=)
17	g.8015331G>A	CA287533596	GUCY2D	c.2773G>A (p.Glu925Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.8015331G>C	CA397954303	GUCY2D	c.2773G>C (p.Glu925Gln)
17	g.8015331G=	CA2246119631	GUCY2D	c.2773G= (p.Glu925=)
17	g.8015331G>T	CA397954304	GUCY2D	c.2773G>T (p.Glu925Ter)	gnomAD v4
17	g.8015332A>C	CA397954305	GUCY2D	c.2774A>C (p.Glu925Ala)
17	g.8015332A>G	CA397954307	GUCY2D	c.2774A>G (p.Glu925Gly)
17	g.8015332A>T	CA397954306	GUCY2D	c.2774A>T (p.Glu925Val)
17	g.8015333G>A	CA497753615	GUCY2D	c.2775G>A (p.Glu925=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015333G>C	CA397954308	GUCY2D	c.2775G>C (p.Glu925Asp)
17	g.8015333G=	CA2246119634	GUCY2D	c.2775G= (p.Glu925=)
17	g.8015333G>T	CA397954309	GUCY2D	c.2775G>T (p.Glu925Asp)
17	g.8015334A>C	CA397954310	GUCY2D	c.2776A>C (p.Thr926Pro)
17	g.8015334A>G	CA397954311	GUCY2D	c.2776A>G (p.Thr926Ala)
17	g.8015334A>T	CA397954312	GUCY2D	c.2776A>T (p.Thr926Ser)
17	g.8015335C>A	CA397954313	GUCY2D	c.2777C>A (p.Thr926Lys)	gnomAD v4
17	g.8015335C>G	CA397954314	GUCY2D	c.2777C>G (p.Thr926Arg)
17	g.8015335C>T	CA397954315	GUCY2D	c.2777C>T (p.Thr926Ile)
17	g.8015336A=	CA2246119638	GUCY2D	c.2778A= (p.Thr926=)
17	g.8015336A>C	CA497753616	GUCY2D	c.2778A>C (p.Thr926=)
17	g.8015336A>G	CA8366226	GUCY2D	c.2778A>G (p.Thr926=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015336A>T	CA497753617	GUCY2D	c.2778A>T (p.Thr926=)
17	g.8015337A=	CA2246119641	GUCY2D	c.2779A= (p.Ile927=)
17	g.8015337A>C	CA397954316	GUCY2D	c.2779A>C (p.Ile927Leu)
17	g.8015337A>G	CA397954317	GUCY2D	c.2779A>G (p.Ile927Val)	ClinVar dbSNP
17	g.8015337A>T	CA397954318	GUCY2D	c.2779A>T (p.Ile927Leu)
17	g.8015338T>A	CA397954319	GUCY2D	c.2780T>A (p.Ile927Lys)
17	g.8015338T>C	CA397954320	GUCY2D	c.2780T>C (p.Ile927Thr)	dbSNP gnomAD v4
17	g.8015338T>G	CA397954321	GUCY2D	c.2780T>G (p.Ile927Arg)
17	g.8015338T=	CA2246119646	GUCY2D	c.2780T= (p.Ile927=)
17	g.8015339A>C	CA497753618	GUCY2D	c.2781A>C (p.Ile927=)
17	g.8015339A>G	CA397954322	GUCY2D	c.2781A>G (p.Ile927Met)
17	g.8015339A>T	CA497753619	GUCY2D	c.2781A>T (p.Ile927=)
17	g.8015340G>A	CA397954323	GUCY2D	c.2782G>A (p.Gly928Arg)	gnomAD v4
17	g.8015340G>C	CA397954324	GUCY2D	c.2782G>C (p.Gly928Arg)
17	g.8015340G>T	CA397954325	GUCY2D	c.2782G>T (p.Gly928Trp)	gnomAD v4
17	g.8015342_8015343dup	CA2635953847	GUCY2D	c.2784_2785dup (p.Asp929GlyfsTer?)	gnomAD v4
17	g.8015340_8015345delinsGGGGAC	CA2246119652	GUCY2D	c.2782_2787delinsGGGGAC (p.Gly928=)
17	g.8015342_8015355del	CA2576160484	GUCY2D	c.2784_2797del (p.Asp929GlyfsTer?)
17	g.8015341G>A	CA501024	GUCY2D	c.2783G>A (p.Gly928Glu)
17	g.8015341G>C	CA397954326	GUCY2D	c.2783G>C (p.Gly928Ala)	ClinVar dbSNP
17	g.8015341G=	CA2246119655	GUCY2D	c.2783G= (p.Gly928=)
17	g.8015341G>T	CA397954327	GUCY2D	c.2783G>T (p.Gly928Val)
17	g.8015342_8015346del	CA624867967	GUCY2D	c.2784_2788del (p.Asp929LeufsTer?)	dbSNP gnomAD v2
17	g.8015342G>A	CA497753620	GUCY2D	c.2784G>A (p.Gly928=)	ClinVar
17	g.8015342G>C	CA8366227	GUCY2D	c.2784G>C (p.Gly928=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015342G=	CA2246119664	GUCY2D	c.2784G= (p.Gly928=)
17	g.8015342G>T	CA497753621	GUCY2D	c.2784G>T (p.Gly928=)	gnomAD v4
17	g.8015343G>A	CA397954328	GUCY2D	c.2785G>A (p.Asp929Asn)	gnomAD v4
17	g.8015343G>C	CA397954329	GUCY2D	c.2785G>C (p.Asp929His)
17	g.8015343G>T	CA397954330	GUCY2D	c.2785G>T (p.Asp929Tyr)	gnomAD v4
17	g.8015344A>C	CA397954331	GUCY2D	c.2786A>C (p.Asp929Ala)
17	g.8015344A>G	CA397954332	GUCY2D	c.2786A>G (p.Asp929Gly)
17	g.8015344A>T	CA397954333	GUCY2D	c.2786A>T (p.Asp929Val)
17	g.8015345C>A	CA397954334	GUCY2D	c.2787C>A (p.Asp929Glu)
17	g.8015345C=	CA2246119671	GUCY2D	c.2787C= (p.Asp929=)
17	g.8015345C>G	CA397954335	GUCY2D	c.2787C>G (p.Asp929Glu)
17	g.8015345C>T	CA8366228	GUCY2D	c.2787C>T (p.Asp929=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015346G>A	CA397954336	GUCY2D	c.2788G>A (p.Ala930Thr)	ClinVar dbSNP gnomAD v4
17	g.8015346G>C	CA397954337	GUCY2D	c.2788G>C (p.Ala930Pro)
17	g.8015346G=	CA2246119685	GUCY2D	c.2788G= (p.Ala930=)
17	g.8015346G>T	CA397954338	GUCY2D	c.2788G>T (p.Ala930Ser)
17	g.8015350_8015361del	CA2576160485	GUCY2D	c.2792_2803del (p.Tyr931_Ala934del)
17	g.8015347C>A	CA8366230	GUCY2D	c.2789C>A (p.Ala930Asp)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.8015347C=	CA2246119691	GUCY2D	c.2789C= (p.Ala930=)
17	g.8015347C>G	CA397954339	GUCY2D	c.2789C>G (p.Ala930Gly)
17	g.8015347C>T	CA8366229	GUCY2D	c.2789C>T (p.Ala930Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015348C>A	CA497753622	GUCY2D	c.2790C>A (p.Ala930=)
17	g.8015348C>G	CA497753623	GUCY2D	c.2790C>G (p.Ala930=)
17	g.8015348C>T	CA497753624	GUCY2D	c.2790C>T (p.Ala930=)
17	g.8015349T>A	CA397954340	GUCY2D	c.2791T>A (p.Tyr931Asn)
17	g.8015349T>C	CA397954341	GUCY2D	c.2791T>C (p.Tyr931His)
17	g.8015349T>G	CA397954342	GUCY2D	c.2791T>G (p.Tyr931Asp)
17	g.8015350A>C	CA397954343	GUCY2D	c.2792A>C (p.Tyr931Ser)
17	g.8015350A>G	CA397954344	GUCY2D	c.2792A>G (p.Tyr931Cys)
17	g.8015350A>T	CA397954345	GUCY2D	c.2792A>T (p.Tyr931Phe)
17	g.8015351T>A	CA397954347	GUCY2D	c.2793T>A (p.Tyr931Ter)
17	g.8015351T>C	CA497753625	GUCY2D	c.2793T>C (p.Tyr931=)	gnomAD v4
17	g.8015351T>G	CA397954346	GUCY2D	c.2793T>G (p.Tyr931Ter)
17	g.8015352A=	CA2246119694	GUCY2D	c.2794A= (p.Met932=)
17	g.8015352A>C	CA397954348	GUCY2D	c.2794A>C (p.Met932Leu)	gnomAD v4
17	g.8015352A>G	CA8366231	GUCY2D	c.2794A>G (p.Met932Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015352A>T	CA397954349	GUCY2D	c.2794A>T (p.Met932Leu)
17	g.8015353T>A	CA397954350	GUCY2D	c.2795T>A (p.Met932Lys)
17	g.8015353T>C	CA397954351	GUCY2D	c.2795T>C (p.Met932Thr)
17	g.8015353T>G	CA8366232	GUCY2D	c.2795T>G (p.Met932Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.8015353T=	CA2246119697	GUCY2D	c.2795T= (p.Met932=)
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

Number of alleles fetched