Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015755_8015783del	CA2695224308	GUCY2D	c.2957_2985del (p.Ala986ValfsTer?)
17	g.8015781C>A	CA497753851	GUCY2D	c.2983C>A (p.Arg995=)
17	g.8015781C=	CA2246120983	GUCY2D	c.2983C= (p.Arg995=)
17	g.8015781C>G	CA397955219	GUCY2D	c.2983C>G (p.Arg995Gly)
17	g.8015781C>T	CA226112	GUCY2D	c.2983C>T (p.Arg995Trp)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.8015782G>A	CA397955222	GUCY2D	c.2984G>A (p.Arg995Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015782G>C	CA8366275	GUCY2D	c.2984G>C (p.Arg995Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015782G=	CA2246120991	GUCY2D	c.2984G= (p.Arg995=)
17	g.8015782G>T	CA287534095	GUCY2D	c.2984G>T (p.Arg995Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.8015783G>A	CA497753852	GUCY2D	c.2985G>A (p.Arg995=)	gnomAD v4
17	g.8015783G>C	CA497753853	GUCY2D	c.2985G>C (p.Arg995=)
17	g.8015783G>T	CA497753854	GUCY2D	c.2985G>T (p.Arg995=)
17	g.8015784T>A	CA397955227	GUCY2D	c.2986T>A (p.Tyr996Asn)
17	g.8015784T>C	CA397955229	GUCY2D	c.2986T>C (p.Tyr996His)
17	g.8015784T>G	CA397955230	GUCY2D	c.2986T>G (p.Tyr996Asp)
17	g.8015785A>C	CA397955236	GUCY2D	c.2987A>C (p.Tyr996Ser)
17	g.8015785A>G	CA397955233	GUCY2D	c.2987A>G (p.Tyr996Cys)	gnomAD v4
17	g.8015785A>T	CA397955235	GUCY2D	c.2987A>T (p.Tyr996Phe)
17	g.8015786C>A	CA397955239	GUCY2D	c.2988C>A (p.Tyr996Ter)
17	g.8015786C=	CA2246121008	GUCY2D	c.2988C= (p.Tyr996=)
17	g.8015786C>G	CA397955241	GUCY2D	c.2988C>G (p.Tyr996Ter)	ClinVar dbSNP
17	g.8015786C>T	CA497753856	GUCY2D	c.2988C>T (p.Tyr996=)
17	g.8015787T>A	CA397955243	GUCY2D	c.2989T>A (p.Cys997Ser)
17	g.8015787T>C	CA397955245	GUCY2D	c.2989T>C (p.Cys997Arg)
17	g.8015787T>G	CA397955247	GUCY2D	c.2989T>G (p.Cys997Gly)
17	g.8015788G>A	CA397955249	GUCY2D	c.2990G>A (p.Cys997Tyr)	gnomAD v4
17	g.8015788G>C	CA397955251	GUCY2D	c.2990G>C (p.Cys997Ser)
17	g.8015788G=	CA2246121014	GUCY2D	c.2990G= (p.Cys997=)
17	g.8015788G>T	CA287534097	GUCY2D	c.2990G>T (p.Cys997Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.8015789C>A	CA397955254	GUCY2D	c.2991C>A (p.Cys997Ter)
17	g.8015789C=	CA2246121018	GUCY2D	c.2991C= (p.Cys997=)
17	g.8015789C>G	CA397955256	GUCY2D	c.2991C>G (p.Cys997Trp)
17	g.8015789C>T	CA287534099	GUCY2D	c.2991C>T (p.Cys997=)	dbSNP gnomAD v3 gnomAD v4
17	g.8015790C>A	CA397955258	GUCY2D	c.2992C>A (p.Leu998Met)
17	g.8015790C>G	CA397955260	GUCY2D	c.2992C>G (p.Leu998Val)
17	g.8015790C>T	CA497753857	GUCY2D	c.2992C>T (p.Leu998=)	ClinVar gnomAD v4
17	g.8015791T>A	CA397955262	GUCY2D	c.2993T>A (p.Leu998Gln)
17	g.8015791T>C	CA397955264	GUCY2D	c.2993T>C (p.Leu998Pro)
17	g.8015791T>G	CA397955266	GUCY2D	c.2993T>G (p.Leu998Arg)
17	g.8015792G>A	CA287534102	GUCY2D	c.2994G>A (p.Leu998=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015792G>C	CA287534101	GUCY2D	c.2994G>C (p.Leu998=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015792G=	CA2246121021	GUCY2D	c.2994G= (p.Leu998=)
17	g.8015792G>T	CA497753859	GUCY2D	c.2994G>T (p.Leu998=)
17	g.8015792_8015793delinsGT	CA2246121022	GUCY2D	c.2994_2995delinsGT (p.Leu998=)
17	g.8015793T>A	CA397955270	GUCY2D	c.2995T>A (p.Phe999Ile)
17	g.8015793T>C	CA397955271	GUCY2D	c.2995T>C (p.Phe999Leu)	gnomAD v4
17	g.8015793T>G	CA397955273	GUCY2D	c.2995T>G (p.Phe999Val)
17	g.8015795del	CA1139664116	GUCY2D	c.2997del (p.Phe999LeufsTer22)	ClinVar dbSNP
17	g.8015794T>A	CA8366276	GUCY2D	c.2996T>A (p.Phe999Tyr)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.8015794T>C	CA397955276	GUCY2D	c.2996T>C (p.Phe999Ser)	gnomAD v4
17	g.8015794T>G	CA397955278	GUCY2D	c.2996T>G (p.Phe999Cys)
17	g.8015794T=	CA2246121031	GUCY2D	c.2996T= (p.Phe999=)
17	g.8015795T>A	CA397955280	GUCY2D	c.2997T>A (p.Phe999Leu)
17	g.8015795T>C	CA497753861	GUCY2D	c.2997T>C (p.Phe999=)
17	g.8015795T>G	CA397955282	GUCY2D	c.2997T>G (p.Phe999Leu)
17	g.8015796G>A	CA397955287	GUCY2D	c.2998G>A (p.Gly1000Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8015796G>C	CA397955284	GUCY2D	c.2998G>C (p.Gly1000Arg)
17	g.8015796G=	CA2246121033	GUCY2D	c.2998G= (p.Gly1000=)
17	g.8015796G>T	CA397955286	GUCY2D	c.2998G>T (p.Gly1000Trp)
17	g.8015797G>A	CA397955289	GUCY2D	c.2999G>A (p.Gly1000Glu)	ClinVar dbSNP gnomAD v4
17	g.8015797G>C	CA397955291	GUCY2D	c.2999G>C (p.Gly1000Ala)
17	g.8015797G=	CA2246121038	GUCY2D	c.2999G= (p.Gly1000=)
17	g.8015797G>T	CA397955293	GUCY2D	c.2999G>T (p.Gly1000Val)
17	g.8015798G>A	CA497753863	GUCY2D	c.3000G>A (p.Gly1000=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015798G>C	CA497753864	GUCY2D	c.3000G>C (p.Gly1000=)
17	g.8015798G=	CA2246121045	GUCY2D	c.3000G= (p.Gly1000=)
17	g.8015798G>T	CA497753862	GUCY2D	c.3000G>T (p.Gly1000=)	gnomAD v4
17	g.8015799G>A	CA397955294	GUCY2D	c.3001G>A (p.Asp1001Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8015799G>C	CA397955296	GUCY2D	c.3001G>C (p.Asp1001His)	gnomAD v4
17	g.8015799G=	CA2246121052	GUCY2D	c.3001G= (p.Asp1001=)
17	g.8015799G>T	CA397955298	GUCY2D	c.3001G>T (p.Asp1001Tyr)
17	g.8015800A>C	CA397955300	GUCY2D	c.3002A>C (p.Asp1001Ala)
17	g.8015800A>G	CA397955302	GUCY2D	c.3002A>G (p.Asp1001Gly)
17	g.8015800A>T	CA397955304	GUCY2D	c.3002A>T (p.Asp1001Val)
17	g.8015801C>A	CA397955306	GUCY2D	c.3003C>A (p.Asp1001Glu)
17	g.8015801C>G	CA397955308	GUCY2D	c.3003C>G (p.Asp1001Glu)
17	g.8015801C>T	CA497753866	GUCY2D	c.3003C>T (p.Asp1001=)	gnomAD v4
17	g.8015802A>C	CA397955312	GUCY2D	c.3004A>C (p.Thr1002Pro)	ClinVar
17	g.8015802A>G	CA397955314	GUCY2D	c.3004A>G (p.Thr1002Ala)
17	g.8015802A>T	CA397955310	GUCY2D	c.3004A>T (p.Thr1002Ser)
17	g.8015803C>A	CA397955320	GUCY2D	c.3005C>A (p.Thr1002Lys)
17	g.8015803C=	CA2246121054	GUCY2D	c.3005C= (p.Thr1002=)
17	g.8015803C>G	CA397955316	GUCY2D	c.3005C>G (p.Thr1002Arg)	gnomAD v4
17	g.8015803C>T	CA397955318	GUCY2D	c.3005C>T (p.Thr1002Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015804G>A	CA8366277	GUCY2D	c.3006G>A (p.Thr1002=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015804G>C	CA497753869	GUCY2D	c.3006G>C (p.Thr1002=)
17	g.8015804G=	CA2246121059	GUCY2D	c.3006G= (p.Thr1002=)
17	g.8015804G>T	CA497753867	GUCY2D	c.3006G>T (p.Thr1002=)	gnomAD v4
17	g.8015805G>A	CA397955322	GUCY2D	c.3007G>A (p.Val1003Ile)
17	g.8015805G>C	CA397955324	GUCY2D	c.3007G>C (p.Val1003Leu)
17	g.8015805G=	CA2246121061	GUCY2D	c.3007G= (p.Val1003=)
17	g.8015805G>T	CA397955326	GUCY2D	c.3007G>T (p.Val1003Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.8015806T>A	CA397955328	GUCY2D	c.3008T>A (p.Val1003Asp)
17	g.8015806T>C	CA397955329	GUCY2D	c.3008T>C (p.Val1003Ala)
17	g.8015806T>G	CA397955331	GUCY2D	c.3008T>G (p.Val1003Gly)
17	g.8015807C>A	CA497753870	GUCY2D	c.3009C>A (p.Val1003=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015807C=	CA2246121065	GUCY2D	c.3009C= (p.Val1003=)
17	g.8015807C>G	CA497753871	GUCY2D	c.3009C>G (p.Val1003=)
17	g.8015807C>T	CA497753872	GUCY2D	c.3009C>T (p.Val1003=)	ClinVar dbSNP
17	g.8015808A>C	CA397955333	GUCY2D	c.3010A>C (p.Asn1004His)
17	g.8015808A>G	CA397955335	GUCY2D	c.3010A>G (p.Asn1004Asp)	gnomAD v4
17	g.8015808A>T	CA397955337	GUCY2D	c.3010A>T (p.Asn1004Tyr)
17	g.8015809A>C	CA397955343	GUCY2D	c.3011A>C (p.Asn1004Thr)
17	g.8015809A>G	CA397955342	GUCY2D	c.3011A>G (p.Asn1004Ser)
17	g.8015809A>T	CA397955340	GUCY2D	c.3011A>T (p.Asn1004Ile)
17	g.8015810C>A	CA397955344	GUCY2D	c.3012C>A (p.Asn1004Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.8015810C=	CA2246121071	GUCY2D	c.3012C= (p.Asn1004=)
17	g.8015810C>G	CA397955345	GUCY2D	c.3012C>G (p.Asn1004Lys)
17	g.8015810C>T	CA8366278	GUCY2D	c.3012C>T (p.Asn1004=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015811A>C	CA397955347	GUCY2D	c.3013A>C (p.Thr1005Pro)
17	g.8015811A>G	CA397955349	GUCY2D	c.3013A>G (p.Thr1005Ala)
17	g.8015811A>T	CA397955351	GUCY2D	c.3013A>T (p.Thr1005Ser)
17	g.8015812C>A	CA397955353	GUCY2D	c.3014C>A (p.Thr1005Asn)
17	g.8015812C=	CA2246121084	GUCY2D	c.3014C= (p.Thr1005=)
17	g.8015812C>G	CA397955355	GUCY2D	c.3014C>G (p.Thr1005Ser)	gnomAD v4
17	g.8015812C>T	CA8366279	GUCY2D	c.3014C>T (p.Thr1005Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015813C>A	CA497753876	GUCY2D	c.3015C>A (p.Thr1005=)	dbSNP gnomAD v2
17	g.8015813C=	CA2246121090	GUCY2D	c.3015C= (p.Thr1005=)
17	g.8015813C>G	CA497753877	GUCY2D	c.3015C>G (p.Thr1005=)
17	g.8015813C>T	CA497753878	GUCY2D	c.3015C>T (p.Thr1005=)	ClinVar gnomAD v4
17	g.8015816_8015822del	CA2808381770	GUCY2D	c.3018_3024del (p.Ser1007TrpfsTer12)
17	g.8015814G>A	CA397955358	GUCY2D	c.3016G>A (p.Ala1006Thr)	gnomAD v4 COSMIC
17	g.8015814G>C	CA397955360	GUCY2D	c.3016G>C (p.Ala1006Pro)
17	g.8015814G>T	CA397955362	GUCY2D	c.3016G>T (p.Ala1006Ser)	gnomAD v4
17	g.8015815C>A	CA397955368	GUCY2D	c.3017C>A (p.Ala1006Asp)	gnomAD v4
17	g.8015815C>G	CA397955366	GUCY2D	c.3017C>G (p.Ala1006Gly)
17	g.8015815C>T	CA397955364	GUCY2D	c.3017C>T (p.Ala1006Val)
17	g.8015816C>A	CA497753879	GUCY2D	c.3018C>A (p.Ala1006=)
17	g.8015816C>G	CA497753880	GUCY2D	c.3018C>G (p.Ala1006=)	ClinVar
17	g.8015816C>T	CA497753881	GUCY2D	c.3018C>T (p.Ala1006=)	ClinVar gnomAD v4
17	g.8015817T>A	CA397955371	GUCY2D	c.3019T>A (p.Ser1007Thr)
17	g.8015817T>C	CA397955373	GUCY2D	c.3019T>C (p.Ser1007Pro)
17	g.8015817T>G	CA397955375	GUCY2D	c.3019T>G (p.Ser1007Ala)
17	g.8015817_8015819delinsTCG	CA2246121093	GUCY2D	c.3019_3021delinsTCG (p.Ser1007=)
17	g.8015818C>A	CA397955377	GUCY2D	c.3020C>A (p.Ser1007Ter)	dbSNP gnomAD v3 gnomAD v4
17	g.8015818C=	CA2246121098	GUCY2D	c.3020C= (p.Ser1007=)
17	g.8015818C>G	CA397955378	GUCY2D	c.3020C>G (p.Ser1007Trp)	gnomAD v4
17	g.8015818C>T	CA397955379	GUCY2D	c.3020C>T (p.Ser1007Leu)	ClinVar gnomAD v4
17	g.8015821_8015822del	CA2246121096	GUCY2D	c.3023_3024del (p.Arg1008HisfsTer?)	dbSNP
17	g.8015819G>A	CA287534144	GUCY2D	c.3021G>A (p.Ser1007=)	dbSNP gnomAD v4
17	g.8015819G>C	CA497753883	GUCY2D	c.3021G>C (p.Ser1007=)
17	g.8015819G=	CA2246121106	GUCY2D	c.3021G= (p.Ser1007=)
17	g.8015819G>T	CA497753882	GUCY2D	c.3021G>T (p.Ser1007=)
17	g.8015820C>A	CA397955382	GUCY2D	c.3022C>A (p.Arg1008Ser)
17	g.8015820C>G	CA397955386	GUCY2D	c.3022C>G (p.Arg1008Gly)
17	g.8015820C>T	CA397955384	GUCY2D	c.3022C>T (p.Arg1008Cys)	gnomAD v4
17	g.8015821G>A	CA8366280	GUCY2D	c.3023G>A (p.Arg1008His)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.8015821G>C	CA397955388	GUCY2D	c.3023G>C (p.Arg1008Pro)
17	g.8015821G=	CA2246121110	GUCY2D	c.3023G= (p.Arg1008=)
17	g.8015821G>T	CA397955390	GUCY2D	c.3023G>T (p.Arg1008Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8015822C>A	CA497753887	GUCY2D	c.3024C>A (p.Arg1008=)
17	g.8015822C=	CA2246121114	GUCY2D	c.3024C= (p.Arg1008=)
17	g.8015822C>G	CA497753888	GUCY2D	c.3024C>G (p.Arg1008=)
17	g.8015822C>T	CA8366281	GUCY2D	c.3024C>T (p.Arg1008=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015823A=	CA2246121121	GUCY2D	c.3025A= (p.Met1009=)
17	g.8015823A>C	CA287534181	GUCY2D	c.3025A>C (p.Met1009Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015823A>G	CA397955395	GUCY2D	c.3025A>G (p.Met1009Val)	gnomAD v4
17	g.8015823A>T	CA226116	GUCY2D	c.3025A>T (p.Met1009Leu)	ClinVar dbSNP gnomAD v4
17	g.8015824T>A	CA397955397	GUCY2D	c.3026T>A (p.Met1009Lys)	ClinVar dbSNP
17	g.8015824T>C	CA397955400	GUCY2D	c.3026T>C (p.Met1009Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.8015824T>G	CA397955402	GUCY2D	c.3026T>G (p.Met1009Arg)
17	g.8015824T=	CA2246121135	GUCY2D	c.3026T= (p.Met1009=)
17	g.8015825G>A	CA397955404	GUCY2D	c.3027G>A (p.Met1009Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015825G>C	CA397955406	GUCY2D	c.3027G>C (p.Met1009Ile)
17	g.8015825G=	CA2246121140	GUCY2D	c.3027G= (p.Met1009=)
17	g.8015825G>T	CA397955407	GUCY2D	c.3027G>T (p.Met1009Ile)
17	g.8015826del	CA2695224309	GUCY2D	c.3028del (p.Glu1010SerfsTer11)
17	g.8015825_8015826insAGTGTGCGT	CA981232794	GUCY2D	c.3027_3028insAGTGTGCGT (p.Met1009_Glu1010insSerValArg)	dbSNP gnomAD v3 gnomAD v4
17	g.8015826G>A	CA397955410	GUCY2D	c.3028G>A (p.Glu1010Lys)
17	g.8015826G>C	CA397955412	GUCY2D	c.3028G>C (p.Glu1010Gln)
17	g.8015826G=	CA2246121142	GUCY2D	c.3028G= (p.Glu1010=)
17	g.8015826G>T	CA397955414	GUCY2D	c.3028G>T (p.Glu1010Ter)	gnomAD v4
17	g.8015827A=	CA2246121145	GUCY2D	c.3029A= (p.Glu1010=)
17	g.8015827A>C	CA397955416	GUCY2D	c.3029A>C (p.Glu1010Ala)
17	g.8015827A>G	CA397955417	GUCY2D	c.3029A>G (p.Glu1010Gly)
17	g.8015827A>T	CA397955419	GUCY2D	c.3029A>T (p.Glu1010Val)
17	g.8015828G>A	CA497753889	GUCY2D	c.3030G>A (p.Glu1010=)
17	g.8015828G>C	CA397955423	GUCY2D	c.3030G>C (p.Glu1010Asp)
17	g.8015828G>T	CA397955421	GUCY2D	c.3030G>T (p.Glu1010Asp)
17	g.8015828_8015829dup	CA981232797	GUCY2D	c.3030_3031dup (p.Ser1011CysfsTer11)	dbSNP gnomAD v3 gnomAD v4
17	g.8015829T>A	CA397955425	GUCY2D	c.3031T>A (p.Ser1011Thr)
17	g.8015829T>C	CA397955429	GUCY2D	c.3031T>C (p.Ser1011Pro)
17	g.8015829T>G	CA397955427	GUCY2D	c.3031T>G (p.Ser1011Ala)
17	g.8015829T=	CA2246121148	GUCY2D	c.3031T= (p.Ser1011=)
17	g.8015829_8015830insGTCACGC	CA2246121150	GUCY2D	c.3031_3032insGTCACGC (p.Ser1011CysfsTer?)	dbSNP
17	g.8015830C>A	CA287534202	GUCY2D	c.3032C>A (p.Ser1011Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015830C=	CA2246121152	GUCY2D	c.3032C= (p.Ser1011=)
17	g.8015830C>G	CA397955434	GUCY2D	c.3032C>G (p.Ser1011Cys)
17	g.8015830C>T	CA397955432	GUCY2D	c.3032C>T (p.Ser1011Phe)
17	g.8015830_8015831insACGCA	CA981232803	GUCY2D	c.3032_3033insACGCA (p.Thr1012ArgfsTer11)	dbSNP gnomAD v3 gnomAD v4
17	g.8015831C>A	CA497753890	GUCY2D	c.3033C>A (p.Ser1011=)
17	g.8015831C>G	CA497753891	GUCY2D	c.3033C>G (p.Ser1011=)
17	g.8015831C>T	CA497753892	GUCY2D	c.3033C>T (p.Ser1011=)
17	g.8015832A>C	CA397955436	GUCY2D	c.3034A>C (p.Thr1012Pro)
17	g.8015832A>G	CA397955438	GUCY2D	c.3034A>G (p.Thr1012Ala)
17	g.8015832A>T	CA397955440	GUCY2D	c.3034A>T (p.Thr1012Ser)
17	g.8015833C>A	CA397955442	GUCY2D	c.3035C>A (p.Thr1012Asn)
17	g.8015833C>G	CA397955444	GUCY2D	c.3035C>G (p.Thr1012Ser)
17	g.8015833C>T	CA397955446	GUCY2D	c.3035C>T (p.Thr1012Ile)
17	g.8015834C>A	CA497753893	GUCY2D	c.3036C>A (p.Thr1012=)
17	g.8015834C=	CA2246121159	GUCY2D	c.3036C= (p.Thr1012=)
17	g.8015834C>G	CA8366282	GUCY2D	c.3036C>G (p.Thr1012=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015834C>T	CA287534218	GUCY2D	c.3036C>T (p.Thr1012=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015835G>A	CA287534219	GUCY2D	c.3037G>A (p.Gly1013Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015835G>C	CA397955451	GUCY2D	c.3037G>C (p.Gly1013Arg)
17	g.8015835G=	CA2246121165	GUCY2D	c.3037G= (p.Gly1013=)
17	g.8015835G>T	CA397955453	GUCY2D	c.3037G>T (p.Gly1013Trp)
17	g.8015838_8015856dup	CA2635955084	GUCY2D	c.3040_3043+15dup	gnomAD v4
17	g.8015836G>A	CA397955455	GUCY2D	c.3038G>A (p.Gly1013Glu)	ClinVar dbSNP
17	g.8015836G>C	CA397955459	GUCY2D	c.3038G>C (p.Gly1013Ala)
17	g.8015836G=	CA2246121170	GUCY2D	c.3038G= (p.Gly1013=)
17	g.8015836G>T	CA397955457	GUCY2D	c.3038G>T (p.Gly1013Val)
17	g.8015837G>A	CA497753897	GUCY2D	c.3039G>A (p.Gly1013=)
17	g.8015837G>C	CA497753898	GUCY2D	c.3039G>C (p.Gly1013=)	dbSNP
17	g.8015837G=	CA2246121173	GUCY2D	c.3039G= (p.Gly1013=)
17	g.8015837G>T	CA497753899	GUCY2D	c.3039G>T (p.Gly1013=)
17	g.8015838C>A	CA397955461	GUCY2D	c.3040C>A (p.Leu1014Met)	gnomAD v4
17	g.8015838C=	CA2246121175	GUCY2D	c.3040C= (p.Leu1014=)
17	g.8015838C>G	CA397955462	GUCY2D	c.3040C>G (p.Leu1014Val)
17	g.8015838C>T	CA497753900	GUCY2D	c.3040C>T (p.Leu1014=)	dbSNP
17	g.8015839T>A	CA397955465	GUCY2D	c.3041T>A (p.Leu1014Gln)
17	g.8015839T>C	CA397955466	GUCY2D	c.3041T>C (p.Leu1014Pro)
17	g.8015839T>G	CA397955468	GUCY2D	c.3041T>G (p.Leu1014Arg)
17	g.8015840G>A	CA8366283	GUCY2D	c.3042G>A (p.Leu1014=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015840G>C	CA497753903	GUCY2D	c.3042G>C (p.Leu1014=)	gnomAD v4
17	g.8015840G=	CA2246121181	GUCY2D	c.3042G= (p.Leu1014=)
17	g.8015840G>T	CA497753902	GUCY2D	c.3042G>T (p.Leu1014=)
17	g.8015841C>A	CA397955472	GUCY2D	c.3043C>A (p.Pro1015Thr)
17	g.8015841C=	CA2246121187	GUCY2D	c.3043C= (p.Pro1015=)
17	g.8015841C>G	CA397955473	GUCY2D	c.3043C>G (p.Pro1015Ala)
17	g.8015841C>T	CA397955475	GUCY2D	c.3043C>T (p.Pro1015Ser)	dbSNP gnomAD v2
17	g.8015842G>A	CA397955479	GUCY2D	c.3043+1G>A (n.3043+1G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.8015842G>C	CA397955481	GUCY2D	c.3043+1G>C (n.3043+1G>C)
17	g.8015842G=	CA2246121190	GUCY2D	c.3043+1G= (n.3043+1G=)
17	g.8015842G>T	CA397955477	GUCY2D	c.3043+1G>T (n.3043+1G>T)
17	g.8015843T>A	CA397955483	GUCY2D	c.3043+2T>A (n.3043+2T>A)	dbSNP gnomAD v2 gnomAD v4
17	g.8015843T>C	CA397955485	GUCY2D	c.3043+2T>C (n.3043+2T>C)
17	g.8015843T>G	CA397955487	GUCY2D	c.3043+2T>G (n.3043+2T>G)
17	g.8015843T=	CA2246121193	GUCY2D	c.3043+2T= (n.3043+2T=)
17	g.8015844G>A	CA2635955093	GUCY2D	c.3043+3G>A (n.3043+3G>A)	gnomAD v4
17	g.8015847_8015901del	CA2590216217	GUCY2D	c.3043+6_3044-26del (n.3043+6_3044-26del)	gnomAD v3 gnomAD v4
17	g.8015845A=	CA2246121198	GUCY2D	c.3043+4A= (n.3043+4A=)
17	g.8015845A>T	CA226118	GUCY2D	c.3043+4A>T (n.3043+4A>T)	ClinVar dbSNP
17	g.8015846G>A	CA287534244	GUCY2D	c.3043+5G>A (n.3043+5G>A)	ClinVar dbSNP gnomAD v4
17	g.8015846G=	CA2246121203	GUCY2D	c.3043+5G= (n.3043+5G=)
17	g.8015846G>T	CA2635955100	GUCY2D	c.3043+5G>T (n.3043+5G>T)	gnomAD v4
17	g.8015847T=	CA2246121206	GUCY2D	c.3043+6T= (n.3043+6T=)
17	g.8015848_8015858dup	CA8366284	GUCY2D	c.3043+7_3043+17dup (n.3043+7_3043+17dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015850G>C	CA2246121208	GUCY2D	c.3043+9G>C (n.3043+9G>C)	dbSNP gnomAD v4
17	g.8015850G=	CA2246121210	GUCY2D	c.3043+9G= (n.3043+9G=)
17	g.8015858_8015868dup	CA2740095259	GUCY2D	c.3043+17_3043+27dup (n.3043+17_3043+27dup)	ClinVar
17	g.8015852C>A	CA8366286	GUCY2D	c.3043+11C>A (n.3043+11C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015852C=	CA2246121215	GUCY2D	c.3043+11C= (n.3043+11C=)
17	g.8015852C>G	CA2581292161	GUCY2D	c.3043+11C>G (n.3043+11C>G)
17	g.8015852C>T	CA8366285	GUCY2D	c.3043+11C>T (n.3043+11C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015853G>A	CA8366287	GUCY2D	c.3043+12G>A (n.3043+12G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015853G>C	CA2635955117	GUCY2D	c.3043+12G>C (n.3043+12G>C)	gnomAD v4
17	g.8015853G=	CA2246121221	GUCY2D	c.3043+12G= (n.3043+12G=)
17	g.8015853G>T	CA2635955121	GUCY2D	c.3043+12G>T (n.3043+12G>T)	gnomAD v4
17	g.8015856del	CA2635955114	GUCY2D	c.3043+15del (n.3043+15del)	ClinVar gnomAD v4
17	g.8015854G>A	CA287534312	GUCY2D	c.3043+13G>A (n.3043+13G>A)	dbSNP gnomAD v4
17	g.8015854G=	CA2246121223	GUCY2D	c.3043+13G= (n.3043+13G=)
17	g.8015855G>A	CA624868024	GUCY2D	c.3043+14G>A (n.3043+14G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015855G>C	CA2740095260	GUCY2D	c.3043+14G>C (n.3043+14G>C)	ClinVar
17	g.8015855G=	CA2246121226	GUCY2D	c.3043+14G= (n.3043+14G=)
17	g.8015855G>T	CA624868025	GUCY2D	c.3043+14G>T (n.3043+14G>T)	dbSNP gnomAD v2
17	g.8015856G>A	CA8366288	GUCY2D	c.3043+15G>A (n.3043+15G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015856G=	CA2246121229	GUCY2D	c.3043+15G= (n.3043+15G=)
17	g.8015857A=	CA2246121233	GUCY2D	c.3043+16A= (n.3043+16A=)
17	g.8015857A>T	CA624868026	GUCY2D	c.3043+16A>T (n.3043+16A>T)	dbSNP gnomAD v2 gnomAD v4
17	g.8015858C>A	CA2635955143	GUCY2D	c.3043+17C>A (n.3043+17C>A)	gnomAD v4
17	g.8015858C=	CA2246121236	GUCY2D	c.3043+17C= (n.3043+17C=)
17	g.8015858C>T	CA624868027	GUCY2D	c.3043+17C>T (n.3043+17C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015859A>G	CA2635955148	GUCY2D	c.3043+18A>G (n.3043+18A>G)	gnomAD v4
17	g.8015860A>T	CA2635955151	GUCY2D	c.3043+19A>T (n.3043+19A>T)	gnomAD v4
17	g.8015861G>A	CA981232828	GUCY2D	c.3043+20G>A (n.3043+20G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.8015861G>C	CA8366289	GUCY2D	c.3043+20G>C (n.3043+20G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015861G=	CA2246121241	GUCY2D	c.3043+20G= (n.3043+20G=)
17	g.8015861G>T	CA2581292162	GUCY2D	c.3043+20G>T (n.3043+20G>T)	gnomAD v4
17	g.8015863C=	CA2246121247	GUCY2D	c.3043+22C= (n.3043+22C=)
17	g.8015863C>T	CA624868028	GUCY2D	c.3043+22C>T (n.3043+22C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015864G>A	CA8366290	GUCY2D	c.3043+23G>A (n.3043+23G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015864G=	CA2246121254	GUCY2D	c.3043+23G= (n.3043+23G=)
17	g.8015864G>T	CA497753904	GUCY2D	c.3043+23G>T (n.3043+23G>T)
17	g.8015869_8015881dup	CA2635955165	GUCY2D	c.3043+28_3043+40dup (n.3043+28_3043+40dup)	gnomAD v4
17	g.8015866G>A	CA624868029	GUCY2D	c.3043+25G>A (n.3043+25G>A)	dbSNP gnomAD v2
17	g.8015866G=	CA2246121255	GUCY2D	c.3043+25G= (n.3043+25G=)
17	g.8015866G>T	CA2635955168	GUCY2D	c.3043+25G>T (n.3043+25G>T)	gnomAD v4
17	g.8015868A=	CA2246121258	GUCY2D	c.3043+27A= (n.3043+27A=)
17	g.8015868A>T	CA2246121259	GUCY2D	c.3043+27A>T (n.3043+27A>T)	dbSNP gnomAD v4
17	g.8015868_8015869insCAA	CA2635955170	GUCY2D	c.3043+27_3043+28insCAA (n.3043+27_3043+28insCAA)	gnomAD v4
17	g.8015869G>A	CA624868030	GUCY2D	c.3043+28G>A (n.3043+28G>A)	dbSNP gnomAD v2
17	g.8015869G=	CA2246121262	GUCY2D	c.3043+28G= (n.3043+28G=)
17	g.8015869G>T	CA8366291	GUCY2D	c.3043+28G>T (n.3043+28G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015870G>A	CA981232835	GUCY2D	c.3043+29G>A (n.3043+29G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.8015870G=	CA2246121265	GUCY2D	c.3043+29G= (n.3043+29G=)
17	g.8015871_8015884delinsTGGGAGGGGGACAC	CA2246121266	GUCY2D	c.3043+30_3044-43delinsTGGGAGGGGGACAC (n.3043+30_3044-43delinsTGGGAGGGGGACAC)
17	g.8015872G>T	CA2576160529	GUCY2D	c.3043+31G>T (n.3043+31G>T)
17	g.8015878_8015890del	CA624868031	GUCY2D	c.3043+37_3044-37del (n.3043+37_3044-37del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015873G>A	CA2635955176	GUCY2D	c.3043+32G>A (n.3043+32G>A)	gnomAD v4
17	g.8015874G>A	CA2576160530	GUCY2D	c.3043+33G>A (n.3043+33G>A)
17	g.8015874G>C	CA8366292	GUCY2D	c.3043+33G>C (n.3043+33G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015874G=	CA2246121269	GUCY2D	c.3043+33G= (n.3043+33G=)
17	g.8015875del	CA2576160531	GUCY2D	c.3043+34del (n.3043+34del)
17	g.8015875A=	CA2246121272	GUCY2D	c.3043+34A= (n.3043+34A=)
17	g.8015875A>T	CA8366293	GUCY2D	c.3043+34A>T (n.3043+34A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015876G>A	CA2576160533	GUCY2D	c.3043+35G>A (n.3043+35G>A)	gnomAD v4
17	g.8015876G=	CA2246121274	GUCY2D	c.3043+35G= (n.3043+35G=)
17	g.8015880del	CA2576160532	GUCY2D	c.3043+39del (n.3043+39del)
17	g.8015878_8015899dup	CA287534332	GUCY2D	c.3043+37_3044-28dup (n.3043+37_3044-28dup)	dbSNP gnomAD v4
17	g.8015880G>A	CA624868032	GUCY2D	c.3043+39G>A (n.3043+39G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.8015880G>C	CA2635955193	GUCY2D	c.3043+39G>C (n.3043+39G>C)	gnomAD v4
17	g.8015880G=	CA2246121277	GUCY2D	c.3043+39G= (n.3043+39G=)
17	g.8015880G>T	CA8366294	GUCY2D	c.3043+39G>T (n.3043+39G>T)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched