Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8003099_8003146dup	CA226147	GUCY2D	c.52_99dup (p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuProArgLeuProArgAlaLeu)	ClinVar dbSNP
17	g.8003101T>A	CA497952607	GUCY2D	c.54T>A (p.Gly18=)
17	g.8003101T>C	CA287522859	GUCY2D	c.54T>C (p.Gly18=)	dbSNP
17	g.8003101T>G	CA497952606	GUCY2D	c.54T>G (p.Gly18=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003101T=	CA2246052955	GUCY2D	c.54T= (p.Gly18=)
17	g.8003102C>A	CA397942497	GUCY2D	c.55C>A (p.Pro19Thr)
17	g.8003102C>G	CA397942499	GUCY2D	c.55C>G (p.Pro19Ala)
17	g.8003102C>T	CA397942502	GUCY2D	c.55C>T (p.Pro19Ser)	gnomAD v4
17	g.8003103C>A	CA397942509	GUCY2D	c.56C>A (p.Pro19His)	gnomAD v4
17	g.8003103C=	CA2246052957	GUCY2D	c.56C= (p.Pro19=)
17	g.8003103C>G	CA397942507	GUCY2D	c.56C>G (p.Pro19Arg)
17	g.8003103C>T	CA397942505	GUCY2D	c.56C>T (p.Pro19Leu)	dbSNP gnomAD v4
17	g.8003104C>A	CA497952613	GUCY2D	c.57C>A (p.Pro19=)	gnomAD v4
17	g.8003104C=	CA2246052959	GUCY2D	c.57C= (p.Pro19=)
17	g.8003104C>G	CA497952612	GUCY2D	c.57C>G (p.Pro19=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003104C>T	CA497952611	GUCY2D	c.57C>T (p.Pro19=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003105G>A	CA397942512	GUCY2D	c.58G>A (p.Ala20Thr)	gnomAD v4
17	g.8003105G>C	CA397942514	GUCY2D	c.58G>C (p.Ala20Pro)
17	g.8003105G=	CA2246052961	GUCY2D	c.58G= (p.Ala20=)
17	g.8003105G>T	CA287522888	GUCY2D	c.58G>T (p.Ala20Ser)	dbSNP
17	g.8003106C>A	CA397942518	GUCY2D	c.59C>A (p.Ala20Glu)	gnomAD v4
17	g.8003106C=	CA2246052963	GUCY2D	c.59C= (p.Ala20=)
17	g.8003106C>G	CA397942520	GUCY2D	c.59C>G (p.Ala20Gly)	dbSNP
17	g.8003106C>T	CA397942523	GUCY2D	c.59C>T (p.Ala20Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003107G>A	CA497952617	GUCY2D	c.60G>A (p.Ala20=)	gnomAD v4
17	g.8003107G>C	CA497952619	GUCY2D	c.60G>C (p.Ala20=)	ClinVar
17	g.8003107G=	CA2246052965	GUCY2D	c.60G= (p.Ala20=)
17	g.8003107G>T	CA497952618	GUCY2D	c.60G>T (p.Ala20=)	dbSNP gnomAD v4
17	g.8003108T>A	CA397942525	GUCY2D	c.61T>A (p.Trp21Arg)
17	g.8003108T>C	CA145844	GUCY2D	c.61T>C (p.Trp21Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003108T>G	CA397942528	GUCY2D	c.61T>G (p.Trp21Gly)
17	g.8003108T=	CA2246052968	GUCY2D	c.61T= (p.Trp21=)
17	g.8003108_8003109delinsCA	CA2580094888	GUCY2D	c.61_62delinsCA (p.Trp21Gln)	ClinVar
17	g.8003109G>A	CA287522907	GUCY2D	c.62G>A (p.Trp21Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003109G>C	CA397942533	GUCY2D	c.62G>C (p.Trp21Ser)
17	g.8003109G=	CA2246052970	GUCY2D	c.62G= (p.Trp21=)
17	g.8003109G>T	CA397942535	GUCY2D	c.62G>T (p.Trp21Leu)
17	g.8003110G>A	CA397942539	GUCY2D	c.63G>A (p.Trp21Ter)	gnomAD v4
17	g.8003110G>C	CA397942541	GUCY2D	c.63G>C (p.Trp21Cys)
17	g.8003110G>T	CA397942546	GUCY2D	c.63G>T (p.Trp21Cys)	gnomAD v4
17	g.8003110_8003111insAGTA	CA2808381144	GUCY2D	c.63_64insAGTA (p.Trp22SerfsTer?)
17	g.8003111T>A	CA397942550	GUCY2D	c.64T>A (p.Trp22Arg)
17	g.8003111T>C	CA397942552	GUCY2D	c.64T>C (p.Trp22Arg)	gnomAD v4
17	g.8003111T>G	CA397942555	GUCY2D	c.64T>G (p.Trp22Gly)
17	g.8003112G>A	CA397942558	GUCY2D	c.65G>A (p.Trp22Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003112G>C	CA397942560	GUCY2D	c.65G>C (p.Trp22Ser)
17	g.8003112G=	CA2246052973	GUCY2D	c.65G= (p.Trp22=)
17	g.8003112G>T	CA397942562	GUCY2D	c.65G>T (p.Trp22Leu)	gnomAD v4
17	g.8003114del	CA2635948961	GUCY2D	c.67del (p.Ala23LeufsTer?)	gnomAD v4
17	g.8003113G>A	CA397942564	GUCY2D	c.66G>A (p.Trp22Ter)
17	g.8003113G>C	CA397942567	GUCY2D	c.66G>C (p.Trp22Cys)
17	g.8003113G>T	CA397942565	GUCY2D	c.66G>T (p.Trp22Cys)	gnomAD v4
17	g.8003114G>A	CA397942570	GUCY2D	c.67G>A (p.Ala23Thr)	gnomAD v4
17	g.8003114G>C	CA397942572	GUCY2D	c.67G>C (p.Ala23Pro)
17	g.8003114G=	CA2246052976	GUCY2D	c.67G= (p.Ala23=)
17	g.8003114G>T	CA397942575	GUCY2D	c.67G>T (p.Ala23Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8003115C>A	CA397942577	GUCY2D	c.68C>A (p.Ala23Asp)	gnomAD v4
17	g.8003115C>G	CA397942579	GUCY2D	c.68C>G (p.Ala23Gly)
17	g.8003115C>T	CA397942582	GUCY2D	c.68C>T (p.Ala23Val)
17	g.8003116T>A	CA287522909	GUCY2D	c.69T>A (p.Ala23=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003116T>C	CA497952625	GUCY2D	c.69T>C (p.Ala23=)
17	g.8003116T>G	CA497952626	GUCY2D	c.69T>G (p.Ala23=)
17	g.8003116T=	CA2246052977	GUCY2D	c.69T= (p.Ala23=)
17	g.8003117C>A	CA397942585	GUCY2D	c.70C>A (p.Pro24Thr)
17	g.8003117C>G	CA397942588	GUCY2D	c.70C>G (p.Pro24Ala)
17	g.8003117C>T	CA397942590	GUCY2D	c.70C>T (p.Pro24Ser)
17	g.8003118C>A	CA397942593	GUCY2D	c.71C>A (p.Pro24Gln)	gnomAD v4
17	g.8003118C=	CA2246052979	GUCY2D	c.71C= (p.Pro24=)
17	g.8003118C>G	CA397942594	GUCY2D	c.71C>G (p.Pro24Arg)
17	g.8003118C>T	CA397942597	GUCY2D	c.71C>T (p.Pro24Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003119G>A	CA497952630	GUCY2D	c.72G>A (p.Pro24=)	dbSNP gnomAD v4
17	g.8003119G>C	CA497952631	GUCY2D	c.72G>C (p.Pro24=)
17	g.8003119G=	CA2246052981	GUCY2D	c.72G= (p.Pro24=)
17	g.8003119G>T	CA497952632	GUCY2D	c.72G>T (p.Pro24=)	gnomAD v4
17	g.8003120T>A	CA397942605	GUCY2D	c.73T>A (p.Ser25Thr)
17	g.8003120T>C	CA397942601	GUCY2D	c.73T>C (p.Ser25Pro)	gnomAD v4
17	g.8003120T>G	CA397942603	GUCY2D	c.73T>G (p.Ser25Ala)
17	g.8003120_8003141delinsTCCCTGCCCCGCCTCCCCCGGG	CA2246052983	GUCY2D	c.73_94delinsTCCCTGCCCCGCCTCCCCCGGG (p.Ser25=)
17	g.8003121C>A	CA397942608	GUCY2D	c.74C>A (p.Ser25Tyr)
17	g.8003121C=	CA2246052986	GUCY2D	c.74C= (p.Ser25=)
17	g.8003121C>G	CA397942611	GUCY2D	c.74C>G (p.Ser25Cys)
17	g.8003121C>T	CA8365468	GUCY2D	c.74C>T (p.Ser25Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003131_8003151dup	CA624867827	GUCY2D	c.84_104dup (p.Arg35_Leu36insLeuProArgAlaLeuProArg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003131_8003151del	CA624867826	GUCY2D	c.84_104del (p.Leu29_Arg35del)	dbSNP gnomAD v2 gnomAD v4
17	g.8003122C>A	CA497952634	GUCY2D	c.75C>A (p.Ser25=)	gnomAD v4
17	g.8003122C>G	CA497952636	GUCY2D	c.75C>G (p.Ser25=)
17	g.8003122C>T	CA497952635	GUCY2D	c.75C>T (p.Ser25=)	ClinVar
17	g.8003122_8003123insAGT	CA2808381146	GUCY2D	c.75_76insAGT (p.Ser25_Leu26insSer)
17	g.8003123C>A	CA397942615	GUCY2D	c.76C>A (p.Leu26Met)	gnomAD v4
17	g.8003123C=	CA2246052990	GUCY2D	c.76C= (p.Leu26=)
17	g.8003123C>G	CA397942617	GUCY2D	c.76C>G (p.Leu26Val)
17	g.8003123C>T	CA497952637	GUCY2D	c.76C>T (p.Leu26=)	dbSNP gnomAD v4
17	g.8003124T>A	CA397942621	GUCY2D	c.77T>A (p.Leu26Gln)
17	g.8003124T>C	CA397942623	GUCY2D	c.77T>C (p.Leu26Pro)
17	g.8003124T>G	CA397942625	GUCY2D	c.77T>G (p.Leu26Arg)
17	g.8003125G>A	CA497952641	GUCY2D	c.78G>A (p.Leu26=)	gnomAD v4
17	g.8003125G>C	CA497952642	GUCY2D	c.78G>C (p.Leu26=)
17	g.8003125G>T	CA497952643	GUCY2D	c.78G>T (p.Leu26=)	ClinVar dbSNP gnomAD v4
17	g.8003126C>A	CA397942630	GUCY2D	c.79C>A (p.Pro27Thr)
17	g.8003126C>G	CA397942632	GUCY2D	c.79C>G (p.Pro27Ala)
17	g.8003126C>T	CA397942634	GUCY2D	c.79C>T (p.Pro27Ser)	gnomAD v4
17	g.8003129dup	CA2695224281	GUCY2D	c.82dup (p.Arg28ProfsTer?)
17	g.8003129del	CA2635948973	GUCY2D	c.82del (p.Arg28AlafsTer?)	gnomAD v4
17	g.8003127C>A	CA397942642	GUCY2D	c.80C>A (p.Pro27His)	gnomAD v4
17	g.8003127C>G	CA397942640	GUCY2D	c.80C>G (p.Pro27Arg)
17	g.8003127C>T	CA397942637	GUCY2D	c.80C>T (p.Pro27Leu)
17	g.8003128C>A	CA497952645	GUCY2D	c.81C>A (p.Pro27=)	gnomAD v4
17	g.8003128C=	CA2246052992	GUCY2D	c.81C= (p.Pro27=)
17	g.8003128C>G	CA497952646	GUCY2D	c.81C>G (p.Pro27=)
17	g.8003128C>T	CA497952647	GUCY2D	c.81C>T (p.Pro27=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003129C>A	CA397942646	GUCY2D	c.82C>A (p.Arg28Ser)	gnomAD v4
17	g.8003129C=	CA2246052995	GUCY2D	c.82C= (p.Arg28=)
17	g.8003129C>G	CA397942649	GUCY2D	c.82C>G (p.Arg28Gly)
17	g.8003129C>T	CA397942647	GUCY2D	c.82C>T (p.Arg28Cys)	dbSNP gnomAD v4
17	g.8003129_8003130insACA	CA2808381148	GUCY2D	c.82_83insACA (p.Arg28delinsHisSer)
17	g.8003130G>A	CA397942653	GUCY2D	c.83G>A (p.Arg28His)	gnomAD v4
17	g.8003130G>C	CA397942655	GUCY2D	c.83G>C (p.Arg28Pro)
17	g.8003130G>T	CA397942657	GUCY2D	c.83G>T (p.Arg28Leu)	gnomAD v4
17	g.8003130_8003131insAGAT	CA2808381149	GUCY2D	c.83_84insAGAT (p.Leu29AspfsTer?)
17	g.8003131C>A	CA497952649	GUCY2D	c.84C>A (p.Arg28=)	gnomAD v4
17	g.8003131C>G	CA497952651	GUCY2D	c.84C>G (p.Arg28=)	gnomAD v4
17	g.8003131C>T	CA497952652	GUCY2D	c.84C>T (p.Arg28=)
17	g.8003132C>A	CA397942660	GUCY2D	c.85C>A (p.Leu29Ile)
17	g.8003132C=	CA2246052997	GUCY2D	c.85C= (p.Leu29=)
17	g.8003132C>G	CA397942662	GUCY2D	c.85C>G (p.Leu29Val)
17	g.8003132C>T	CA397942664	GUCY2D	c.85C>T (p.Leu29Phe)	ClinVar dbSNP gnomAD v4
17	g.8003133T>A	CA397942667	GUCY2D	c.86T>A (p.Leu29His)	gnomAD v4
17	g.8003133T>C	CA397942670	GUCY2D	c.86T>C (p.Leu29Pro)	gnomAD v4
17	g.8003133T>G	CA397942672	GUCY2D	c.86T>G (p.Leu29Arg)	dbSNP
17	g.8003133T=	CA2246052999	GUCY2D	c.86T= (p.Leu29=)
17	g.8003133_8003134insAGA	CA2808381151	GUCY2D	c.86_87insAGA (p.Leu29_Pro30insAsp)
17	g.8003134C>A	CA497952654	GUCY2D	c.87C>A (p.Leu29=)	gnomAD v4
17	g.8003134C=	CA2246053002	GUCY2D	c.87C= (p.Leu29=)
17	g.8003134C>G	CA287522915	GUCY2D	c.87C>G (p.Leu29=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003134C>T	CA497952656	GUCY2D	c.87C>T (p.Leu29=)	gnomAD v4
17	g.8003138dup	CA226154	GUCY2D	c.91dup (p.Arg31ProfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003138del	CA2635948991	GUCY2D	c.91del (p.Arg31GlyfsTer?)	gnomAD v4
17	g.8003135C>A	CA397942676	GUCY2D	c.88C>A (p.Pro30Thr)	gnomAD v4
17	g.8003135C=	CA2246053006	GUCY2D	c.88C= (p.Pro30=)
17	g.8003135C>G	CA397942677	GUCY2D	c.88C>G (p.Pro30Ala)
17	g.8003135C>T	CA397942679	GUCY2D	c.88C>T (p.Pro30Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.8003141_8003152del	CA2576159849	GUCY2D	c.94_105del (p.Ala32_Arg35del)	ClinVar
17	g.8003136C>A	CA397942686	GUCY2D	c.89C>A (p.Pro30His)	gnomAD v4
17	g.8003136C>G	CA397942682	GUCY2D	c.89C>G (p.Pro30Arg)
17	g.8003136C>T	CA397942684	GUCY2D	c.89C>T (p.Pro30Leu)	gnomAD v4
17	g.8003137C>A	CA497952658	GUCY2D	c.90C>A (p.Pro30=)	gnomAD v4
17	g.8003137C>G	CA497952659	GUCY2D	c.90C>G (p.Pro30=)	gnomAD v4
17	g.8003137C>T	CA497952660	GUCY2D	c.90C>T (p.Pro30=)	gnomAD v4
17	g.8003137_8003138insAGT	CA2808381160	GUCY2D	c.90_91insAGT (p.Pro30_Arg31insSer)
17	g.8003137_8003138insACAA	CA2808381158	GUCY2D	c.90_91insACAA (p.Arg31ThrfsTer?)
17	g.8003138C>A	CA497952661	GUCY2D	c.91C>A (p.Arg31=)	gnomAD v4
17	g.8003138C=	CA2246053008	GUCY2D	c.91C= (p.Arg31=)
17	g.8003138C>G	CA397942688	GUCY2D	c.91C>G (p.Arg31Gly)	ClinVar dbSNP gnomAD v4
17	g.8003138C>T	CA397942690	GUCY2D	c.91C>T (p.Arg31Trp)	dbSNP gnomAD v2 gnomAD v4
17	g.8003138_8003139insACA	CA2808381163	GUCY2D	c.91_92insACA (p.Pro30_Arg31insHis)
17	g.8003138_8003139insAGA	CA2808381167	GUCY2D	c.91_92insAGA (p.Pro30_Arg31insGln)
17	g.8003139G>A	CA397942692	GUCY2D	c.92G>A (p.Arg31Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003139G>C	CA397942695	GUCY2D	c.92G>C (p.Arg31Pro)	COSMIC
17	g.8003139G=	CA2246053010	GUCY2D	c.92G= (p.Arg31=)
17	g.8003139G>T	CA397942697	GUCY2D	c.92G>T (p.Arg31Leu)	gnomAD v4
17	g.8003139_8003140insAGA	CA2808381173	GUCY2D	c.92_93insAGA (p.Arg31_Ala32insGlu)
17	g.8003140G>A	CA497952662	GUCY2D	c.93G>A (p.Arg31=)	dbSNP gnomAD v4
17	g.8003140G>C	CA497952663	GUCY2D	c.93G>C (p.Arg31=)	gnomAD v4
17	g.8003140G>T	CA497952664	GUCY2D	c.93G>T (p.Arg31=)	ClinVar
17	g.8003141G>A	CA397942700	GUCY2D	c.94G>A (p.Ala32Thr)	gnomAD v4 COSMIC
17	g.8003141G>C	CA397942702	GUCY2D	c.94G>C (p.Ala32Pro)
17	g.8003141G>T	CA397942705	GUCY2D	c.94G>T (p.Ala32Ser)	gnomAD v4
17	g.8003142C>A	CA397942708	GUCY2D	c.95C>A (p.Ala32Asp)	dbSNP gnomAD v4
17	g.8003142C=	CA2246053012	GUCY2D	c.95C= (p.Ala32=)
17	g.8003142C>G	CA397942710	GUCY2D	c.95C>G (p.Ala32Gly)	gnomAD v4
17	g.8003142C>T	CA397942712	GUCY2D	c.95C>T (p.Ala32Val)	gnomAD v4
17	g.8003142_8003143insAGA	CA2808381176	GUCY2D	c.95_96insAGA (p.Ala32_Leu33insAsp)
17	g.8003143C>A	CA497952667	GUCY2D	c.96C>A (p.Ala32=)
17	g.8003143C=	CA2246053013	GUCY2D	c.96C= (p.Ala32=)
17	g.8003143C>G	CA497952668	GUCY2D	c.96C>G (p.Ala32=)	gnomAD v4
17	g.8003143C>T	CA497952666	GUCY2D	c.96C>T (p.Ala32=)	dbSNP
17	g.8003143_8003144insA	CA2808381181	GUCY2D	c.96_97insA (p.Leu33ThrfsTer?)
17	g.8003144C>A	CA397942715	GUCY2D	c.97C>A (p.Leu33Met)	gnomAD v4
17	g.8003144C>G	CA397942713	GUCY2D	c.97C>G (p.Leu33Val)	gnomAD v4
17	g.8003144C>T	CA497952671	GUCY2D	c.97C>T (p.Leu33=)	gnomAD v4
17	g.8003144_8003145insACT	CA2808381186	GUCY2D	c.97_98insACT (p.Ala32_Leu33insHis)
17	g.8003144_8003145insAGT	CA2808381188	GUCY2D	c.97_98insAGT (p.Ala32_Leu33insGln)
17	g.8003145T>A	CA8365469	GUCY2D	c.98T>A (p.Leu33Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003145T>C	CA397942722	GUCY2D	c.98T>C (p.Leu33Pro)	gnomAD v4
17	g.8003145T>G	CA397942720	GUCY2D	c.98T>G (p.Leu33Arg)	ClinVar
17	g.8003145T=	CA2246053015	GUCY2D	c.98T= (p.Leu33=)
17	g.8003146G>A	CA497952675	GUCY2D	c.99G>A (p.Leu33=)	gnomAD v4
17	g.8003146G>C	CA497952673	GUCY2D	c.99G>C (p.Leu33=)	gnomAD v4
17	g.8003146G>T	CA497952674	GUCY2D	c.99G>T (p.Leu33=)	gnomAD v4
17	g.8003147C>A	CA397942726	GUCY2D	c.100C>A (p.Pro34Thr)	gnomAD v4
17	g.8003147C>G	CA397942728	GUCY2D	c.100C>G (p.Pro34Ala)
17	g.8003147C>T	CA397942731	GUCY2D	c.100C>T (p.Pro34Ser)	gnomAD v4
17	g.8003150del	CA2635949058	GUCY2D	c.103del (p.Arg35GlyfsTer?)	gnomAD v4
17	g.8003148C>A	CA8365470	GUCY2D	c.101C>A (p.Pro34His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003148C=	CA2246053017	GUCY2D	c.101C= (p.Pro34=)
17	g.8003148C>G	CA397942736	GUCY2D	c.101C>G (p.Pro34Arg)	dbSNP
17	g.8003148C>T	CA397942739	GUCY2D	c.101C>T (p.Pro34Leu)	gnomAD v4
17	g.8003149C>A	CA497952679	GUCY2D	c.102C>A (p.Pro34=)	gnomAD v4
17	g.8003149C=	CA2246053020	GUCY2D	c.102C= (p.Pro34=)
17	g.8003149C>G	CA497952681	GUCY2D	c.102C>G (p.Pro34=)
17	g.8003149C>T	CA497952680	GUCY2D	c.102C>T (p.Pro34=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003150C>A	CA497952682	GUCY2D	c.103C>A (p.Arg35=)	gnomAD v4
17	g.8003150C=	CA2246053022	GUCY2D	c.103C= (p.Arg35=)
17	g.8003150C>G	CA397942742	GUCY2D	c.103C>G (p.Arg35Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003150C>T	CA397942743	GUCY2D	c.103C>T (p.Arg35Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003150_8003151insACA	CA2808381196	GUCY2D	c.103_104insACA (p.Pro34_Arg35insHis)
17	g.8003151G>A	CA8365471	GUCY2D	c.104G>A (p.Arg35Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003151G>C	CA397942746	GUCY2D	c.104G>C (p.Arg35Pro)
17	g.8003151G=	CA2246053025	GUCY2D	c.104G= (p.Arg35=)
17	g.8003151G>T	CA397942749	GUCY2D	c.104G>T (p.Arg35Leu)	ClinVar dbSNP gnomAD v4
17	g.8003151_8003152insAA	CA2808381199	GUCY2D	c.104_105insAA (p.Leu36SerfsTer?)
17	g.8003152G>A	CA497952686	GUCY2D	c.105G>A (p.Arg35=)	ClinVar gnomAD v4
17	g.8003152G>C	CA497952687	GUCY2D	c.105G>C (p.Arg35=)
17	g.8003152G>T	CA497952688	GUCY2D	c.105G>T (p.Arg35=)	gnomAD v4
17	g.8003157_8003162del	CA2635949078	GUCY2D	c.110_115del (p.Pro37_Leu38del)	gnomAD v4
17	g.8003153del	CA2808381200	GUCY2D	c.106del (p.Leu36SerfsTer?)
17	g.8003153C>A	CA397942757	GUCY2D	c.106C>A (p.Leu36Ile)	gnomAD v4
17	g.8003153C>G	CA397942754	GUCY2D	c.106C>G (p.Leu36Val)	gnomAD v4
17	g.8003153C>T	CA397942752	GUCY2D	c.106C>T (p.Leu36Phe)	gnomAD v4
17	g.8003153_8003154insACAT	CA2808381204	GUCY2D	c.106_107insACAT (p.Leu36HisfsTer?)
17	g.8003154del	CA2635949083	GUCY2D	c.107del (p.Leu36ProfsTer?)	gnomAD v4
17	g.8003154T>A	CA397942760	GUCY2D	c.107T>A (p.Leu36His)
17	g.8003154T>C	CA397942763	GUCY2D	c.107T>C (p.Leu36Pro)
17	g.8003154T>G	CA397942765	GUCY2D	c.107T>G (p.Leu36Arg)
17	g.8003155C>A	CA497952690	GUCY2D	c.108C>A (p.Leu36=)	gnomAD v4
17	g.8003155C=	CA2246053027	GUCY2D	c.108C= (p.Leu36=)
17	g.8003155C>G	CA497952691	GUCY2D	c.108C>G (p.Leu36=)
17	g.8003155C>T	CA497952692	GUCY2D	c.108C>T (p.Leu36=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003157del	CA2576159853	GUCY2D	c.110del (p.Pro37ArgfsTer?)	gnomAD v4
17	g.8003156C>A	CA397942768	GUCY2D	c.109C>A (p.Pro37Thr)
17	g.8003156C=	CA2246053029	GUCY2D	c.109C= (p.Pro37=)
17	g.8003156C>G	CA397942769	GUCY2D	c.109C>G (p.Pro37Ala)	dbSNP gnomAD v4
17	g.8003156C>T	CA397942770	GUCY2D	c.109C>T (p.Pro37Ser)	gnomAD v4
17	g.8003156_8003157insAGA	CA2808381209	GUCY2D	c.109_110insAGA (p.Pro37delinsGlnThr)
17	g.8003157C>A	CA397942771	GUCY2D	c.110C>A (p.Pro37Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.8003157C=	CA2246053030	GUCY2D	c.110C= (p.Pro37=)
17	g.8003157C>G	CA397942772	GUCY2D	c.110C>G (p.Pro37Arg)	ClinVar gnomAD v4
17	g.8003157C>T	CA397942773	GUCY2D	c.110C>T (p.Pro37Leu)	gnomAD v4
17	g.8003158G>A	CA497952694	GUCY2D	c.111G>A (p.Pro37=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003158G>C	CA497952695	GUCY2D	c.111G>C (p.Pro37=)	dbSNP gnomAD v2
17	g.8003158G=	CA2246053031	GUCY2D	c.111G= (p.Pro37=)
17	g.8003158G>T	CA497952696	GUCY2D	c.111G>T (p.Pro37=)	gnomAD v4
17	g.8003167_8003175dup	CA775504578	GUCY2D	c.120_128dup (p.Leu43_Leu44insLeuLeuLeu)	dbSNP gnomAD v3 gnomAD v4
17	g.8003159C>A	CA397942774	GUCY2D	c.112C>A (p.Leu38Ile)	gnomAD v4
17	g.8003159C=	CA2246053032	GUCY2D	c.112C= (p.Leu38=)
17	g.8003159C>G	CA397942775	GUCY2D	c.112C>G (p.Leu38Val)
17	g.8003159C>T	CA397942776	GUCY2D	c.112C>T (p.Leu38Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003160T>A	CA397942777	GUCY2D	c.113T>A (p.Leu38His)
17	g.8003160T>C	CA397942779	GUCY2D	c.113T>C (p.Leu38Pro)
17	g.8003160T>G	CA397942778	GUCY2D	c.113T>G (p.Leu38Arg)
17	g.8003161C>A	CA497952697	GUCY2D	c.114C>A (p.Leu38=)	gnomAD v4
17	g.8003161C=	CA2246053034	GUCY2D	c.114C= (p.Leu38=)
17	g.8003161C>G	CA8365472	GUCY2D	c.114C>G (p.Leu38=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003161C>T	CA497952698	GUCY2D	c.114C>T (p.Leu38=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003161_8003162insAGTT	CA2808381220	GUCY2D	c.114_115insAGTT (p.Leu39SerfsTer?)
17	g.8003162C>A	CA397942781	GUCY2D	c.115C>A (p.Leu39Met)
17	g.8003162C>G	CA397942780	GUCY2D	c.115C>G (p.Leu39Val)
17	g.8003162C>T	CA497952699	GUCY2D	c.115C>T (p.Leu39=)
17	g.8003162_8003163insAT	CA2808381224	GUCY2D	c.115_116insAT (p.Leu39HisfsTer?)
17	g.8003163T>A	CA397942782	GUCY2D	c.116T>A (p.Leu39Gln)
17	g.8003163T>C	CA397942783	GUCY2D	c.116T>C (p.Leu39Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003163T>G	CA397942784	GUCY2D	c.116T>G (p.Leu39Arg)	dbSNP gnomAD v4
17	g.8003163T=	CA2246053035	GUCY2D	c.116T= (p.Leu39=)
17	g.8003163_8003164insA	CA2808381229	GUCY2D	c.116_117insA (p.Leu40AlafsTer?)
17	g.8003164G>A	CA497952720	GUCY2D	c.117G>A (p.Leu39=)	gnomAD v4
17	g.8003164G>C	CA497952724	GUCY2D	c.117G>C (p.Leu39=)
17	g.8003164G>T	CA497952723	GUCY2D	c.117G>T (p.Leu39=)	gnomAD v4
17	g.8003165C>A	CA397942785	GUCY2D	c.118C>A (p.Leu40Met)	gnomAD v4
17	g.8003165C>G	CA397942786	GUCY2D	c.118C>G (p.Leu40Val)
17	g.8003165C>T	CA497952726	GUCY2D	c.118C>T (p.Leu40=)	gnomAD v4
17	g.8003165_8003166insAT	CA2808381230	GUCY2D	c.118_119insAT (p.Leu40HisfsTer?)
17	g.8003166T>A	CA397942789	GUCY2D	c.119T>A (p.Leu40Gln)	dbSNP
17	g.8003166T>C	CA397942788	GUCY2D	c.119T>C (p.Leu40Pro)	gnomAD v4
17	g.8003166T>G	CA397942787	GUCY2D	c.119T>G (p.Leu40Arg)
17	g.8003166T=	CA2246053037	GUCY2D	c.119T= (p.Leu40=)
17	g.8003167G>A	CA497952728	GUCY2D	c.120G>A (p.Leu40=)	gnomAD v4
17	g.8003167G>C	CA497952731	GUCY2D	c.120G>C (p.Leu40=)
17	g.8003167G>T	CA497952730	GUCY2D	c.120G>T (p.Leu40=)	gnomAD v4
17	g.8003167_8003168insACA	CA2808381233	GUCY2D	c.120_121insACA (p.Leu40_Leu41insThr)
17	g.8003168C>A	CA397942790	GUCY2D	c.121C>A (p.Leu41Ile)	gnomAD v4
17	g.8003168C=	CA2246053040	GUCY2D	c.121C= (p.Leu41=)
17	g.8003168C>G	CA397942791	GUCY2D	c.121C>G (p.Leu41Val)	gnomAD v4
17	g.8003168C>T	CA226039	GUCY2D	c.121C>T (p.Leu41Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003168_8003169insAG	CA2808381237	GUCY2D	c.121_122insAG (p.Leu41GlnfsTer?)
17	g.8003169T>A	CA397942792	GUCY2D	c.122T>A (p.Leu41His)
17	g.8003169T>C	CA397942793	GUCY2D	c.122T>C (p.Leu41Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.8003169T>G	CA397942794	GUCY2D	c.122T>G (p.Leu41Arg)
17	g.8003169T=	CA2246053042	GUCY2D	c.122T= (p.Leu41=)
17	g.8003170C>A	CA497952735	GUCY2D	c.123C>A (p.Leu41=)
17	g.8003170C>G	CA497952736	GUCY2D	c.123C>G (p.Leu41=)
17	g.8003170C>T	CA497952737	GUCY2D	c.123C>T (p.Leu41=)	gnomAD v4
17	g.8003170_8003176delinsCCTGCTT	CA2246053044	GUCY2D	c.123_129delinsCCTGCTT (p.Leu41=)
17	g.8003171C>A	CA397942795	GUCY2D	c.124C>A (p.Leu42Met)	gnomAD v4
17	g.8003171C=	CA2246053047	GUCY2D	c.124C= (p.Leu42=)
17	g.8003171C>G	CA397942796	GUCY2D	c.124C>G (p.Leu42Val)
17	g.8003171C>T	CA497952741	GUCY2D	c.124C>T (p.Leu42=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003176_8003181del	CA8365473	GUCY2D	c.129_134del (p.Leu44_Leu45del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003172T>A	CA397942797	GUCY2D	c.125T>A (p.Leu42Gln)	gnomAD v4
17	g.8003172T>C	CA397942798	GUCY2D	c.125T>C (p.Leu42Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8003172T>G	CA397942799	GUCY2D	c.125T>G (p.Leu42Arg)
17	g.8003172T=	CA2246053050	GUCY2D	c.125T= (p.Leu42=)
17	g.8003173G>A	CA497952742	GUCY2D	c.126G>A (p.Leu42=)	gnomAD v4
17	g.8003173G>C	CA497952743	GUCY2D	c.126G>C (p.Leu42=)
17	g.8003173G=	CA2246053052	GUCY2D	c.126G= (p.Leu42=)
17	g.8003173G>T	CA497952744	GUCY2D	c.126G>T (p.Leu42=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003173_8003174insACA	CA2808381247	GUCY2D	c.126_127insACA (p.Leu42_Leu43insThr)
17	g.8003174C>A	CA397942800	GUCY2D	c.127C>A (p.Leu43Ile)	gnomAD v4
17	g.8003174C=	CA2246053055	GUCY2D	c.127C= (p.Leu43=)
17	g.8003174C>G	CA397942801	GUCY2D	c.127C>G (p.Leu43Val)
17	g.8003174C>T	CA397942802	GUCY2D	c.127C>T (p.Leu43Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.8003175T>A	CA397942803	GUCY2D	c.128T>A (p.Leu43His)
17	g.8003175T>C	CA397942804	GUCY2D	c.128T>C (p.Leu43Pro)	gnomAD v4
17	g.8003175T>G	CA397942805	GUCY2D	c.128T>G (p.Leu43Arg)
17	g.8003176T>A	CA497952747	GUCY2D	c.129T>A (p.Leu43=)	gnomAD v4
17	g.8003176T>C	CA497952748	GUCY2D	c.129T>C (p.Leu43=)	ClinVar dbSNP gnomAD v4
17	g.8003176T>G	CA497952749	GUCY2D	c.129T>G (p.Leu43=)	dbSNP
17	g.8003176T=	CA2246053057	GUCY2D	c.129T= (p.Leu43=)
17	g.8003176_8003177insA	CA2808381253	GUCY2D	c.129_130insA (p.Leu44ThrfsTer?)
17	g.8003177C>A	CA397942806	GUCY2D	c.130C>A (p.Leu44Met)	gnomAD v4
17	g.8003177C>G	CA397942807	GUCY2D	c.130C>G (p.Leu44Val)	gnomAD v4
17	g.8003177C>T	CA497952751	GUCY2D	c.130C>T (p.Leu44=)	gnomAD v4
17	g.8003181_8003183del	CA2576159855	GUCY2D	c.134_136del (p.Leu45del)	ClinVar dbSNP gnomAD v4
17	g.8003178T>A	CA397942810	GUCY2D	c.131T>A (p.Leu44Gln)
17	g.8003178T>C	CA397942808	GUCY2D	c.131T>C (p.Leu44Pro)	gnomAD v4
17	g.8003178T>G	CA397942809	GUCY2D	c.131T>G (p.Leu44Arg)	ClinVar gnomAD v4
17	g.8003179del	CA2576159856	GUCY2D	c.132del (p.Leu45CysfsTer?)
17	g.8003179G>A	CA497952753	GUCY2D	c.132G>A (p.Leu44=)	ClinVar dbSNP gnomAD v4
17	g.8003179G>C	CA497952754	GUCY2D	c.132G>C (p.Leu44=)	gnomAD v4
17	g.8003179G=	CA2246053059	GUCY2D	c.132G= (p.Leu44=)
17	g.8003179G>T	CA497952755	GUCY2D	c.132G>T (p.Leu44=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003180C>A	CA397942811	GUCY2D	c.133C>A (p.Leu45Met)	dbSNP gnomAD v2 gnomAD v4
17	g.8003180C=	CA2246053061	GUCY2D	c.133C= (p.Leu45=)
17	g.8003180C>G	CA397942812	GUCY2D	c.133C>G (p.Leu45Val)	gnomAD v4
17	g.8003180C>T	CA497952756	GUCY2D	c.133C>T (p.Leu45=)	gnomAD v4
17	g.8003180_8003181insAC	CA2808381262	GUCY2D	c.133_134insAC (p.Leu45HisfsTer?)
17	g.8003181T>A	CA397942813	GUCY2D	c.134T>A (p.Leu45Gln)
17	g.8003181T>C	CA397942814	GUCY2D	c.134T>C (p.Leu45Pro)	gnomAD v4
17	g.8003181T>G	CA397942815	GUCY2D	c.134T>G (p.Leu45Arg)
17	g.8003182G>A	CA497952762	GUCY2D	c.135G>A (p.Leu45=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003182G>C	CA497952760	GUCY2D	c.135G>C (p.Leu45=)	gnomAD v4
17	g.8003182G=	CA2246053062	GUCY2D	c.135G= (p.Leu45=)
17	g.8003182G>T	CA497952761	GUCY2D	c.135G>T (p.Leu45=)	gnomAD v4
17	g.8003182_8003183del	CA2808381265	GUCY2D	c.135_136del (p.Gln46AlafsTer?)
17	g.8003183C>A	CA397942816	GUCY2D	c.136C>A (p.Gln46Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.8003183C=	CA2246053065	GUCY2D	c.136C= (p.Gln46=)
17	g.8003183C>G	CA397942817	GUCY2D	c.136C>G (p.Gln46Glu)	gnomAD v4
17	g.8003183C>T	CA397942818	GUCY2D	c.136C>T (p.Gln46Ter)	gnomAD v4
17	g.8003184A=	CA2246053067	GUCY2D	c.137A= (p.Gln46=)
17	g.8003184A>C	CA397942819	GUCY2D	c.137A>C (p.Gln46Pro)	gnomAD v4
17	g.8003184A>G	CA397942820	GUCY2D	c.137A>G (p.Gln46Arg)	gnomAD v4
17	g.8003184A>T	CA397942821	GUCY2D	c.137A>T (p.Gln46Leu)	ClinVar dbSNP gnomAD v4
17	g.8003185G>A	CA497952766	GUCY2D	c.138G>A (p.Gln46=)	gnomAD v4
17	g.8003185G>C	CA397942822	GUCY2D	c.138G>C (p.Gln46His)	gnomAD v4
17	g.8003185G>T	CA397942823	GUCY2D	c.138G>T (p.Gln46His)	gnomAD v4
17	g.8003185_8003186delinsGC	CA2246053069	GUCY2D	c.138_139delinsGC (p.Gln46=)
17	g.8003186C>A	CA397942826	GUCY2D	c.139C>A (p.Pro47Thr)	gnomAD v4
17	g.8003186C=	CA2246053074	GUCY2D	c.139C= (p.Pro47=)
17	g.8003186C>G	CA397942825	GUCY2D	c.139C>G (p.Pro47Ala)	gnomAD v4
17	g.8003186C>T	CA397942824	GUCY2D	c.139C>T (p.Pro47Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003186_8003187delinsA	CA2695224282	GUCY2D	c.139_140delinsA (p.Pro47ThrfsTer?)
17	g.8003191dup	CA624867830	GUCY2D	c.144dup (p.Ala49ArgfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003191del	CA624867829	GUCY2D	c.144del (p.Ala49ProfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003187C>A	CA397942827	GUCY2D	c.140C>A (p.Pro47His)	dbSNP gnomAD v3 gnomAD v4
17	g.8003187C=	CA2246053077	GUCY2D	c.140C= (p.Pro47=)
17	g.8003187C>G	CA397942828	GUCY2D	c.140C>G (p.Pro47Arg)	ClinVar gnomAD v4
17	g.8003187C>T	CA287522942	GUCY2D	c.140C>T (p.Pro47Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003188C>A	CA497952770	GUCY2D	c.141C>A (p.Pro47=)	gnomAD v4
17	g.8003188C=	CA2246053079	GUCY2D	c.141C= (p.Pro47=)
17	g.8003188C>G	CA497952771	GUCY2D	c.141C>G (p.Pro47=)	ClinVar dbSNP
17	g.8003188C>T	CA497952772	GUCY2D	c.141C>T (p.Pro47=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003189C>A	CA397942829	GUCY2D	c.142C>A (p.Pro48Thr)	gnomAD v4
17	g.8003189C=	CA2246053081	GUCY2D	c.142C= (p.Pro48=)
17	g.8003189C>G	CA397942830	GUCY2D	c.142C>G (p.Pro48Ala)
17	g.8003189C>T	CA397942831	GUCY2D	c.142C>T (p.Pro48Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8003189_8003190insAGT	CA2808381279	GUCY2D	c.142_143insAGT (p.Pro48delinsGlnSer)
17	g.8003190C>A	CA397942832	GUCY2D	c.143C>A (p.Pro48His)	dbSNP gnomAD v2 gnomAD v4
17	g.8003190C=	CA2246053083	GUCY2D	c.143C= (p.Pro48=)
17	g.8003190C>G	CA397942833	GUCY2D	c.143C>G (p.Pro48Arg)	gnomAD v4
17	g.8003190C>T	CA397942834	GUCY2D	c.143C>T (p.Pro48Leu)	gnomAD v4
17	g.8003191C>A	CA8365474	GUCY2D	c.144C>A (p.Pro48=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003191C=	CA2246053085	GUCY2D	c.144C= (p.Pro48=)
17	g.8003191C>G	CA497952774	GUCY2D	c.144C>G (p.Pro48=)	ClinVar gnomAD v4
17	g.8003191C>T	CA497952775	GUCY2D	c.144C>T (p.Pro48=)	ClinVar gnomAD v4
17	g.8003191_8003192insA	CA2808381289	GUCY2D	c.144_145insA (p.Ala49SerfsTer?)
17	g.8003191_8003192insACA	CA2808381293	GUCY2D	c.144_145insACA (p.Pro48_Ala49insThr)
17	g.8003192G>A	CA397942835	GUCY2D	c.145G>A (p.Ala49Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003192G>C	CA397942836	GUCY2D	c.145G>C (p.Ala49Pro)
17	g.8003192G=	CA2246053087	GUCY2D	c.145G= (p.Ala49=)
17	g.8003192G>T	CA8365475	GUCY2D	c.145G>T (p.Ala49Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003193C>A	CA397942838	GUCY2D	c.146C>A (p.Ala49Asp)	gnomAD v4
17	g.8003193C=	CA2246053091	GUCY2D	c.146C= (p.Ala49=)
17	g.8003193C>G	CA397942837	GUCY2D	c.146C>G (p.Ala49Gly)
17	g.8003193C>T	CA8365476	GUCY2D	c.146C>T (p.Ala49Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003195del	CA2635949159	GUCY2D	c.148del (p.Leu50SerfsTer?)	gnomAD v4
17	g.8003193_8003194insAA	CA2808381305	GUCY2D	c.146_147insAA (p.Leu50ThrfsTer?)
17	g.8003194C>A	CA497952776	GUCY2D	c.147C>A (p.Ala49=)	gnomAD v4
17	g.8003194C>G	CA497952777	GUCY2D	c.147C>G (p.Ala49=)
17	g.8003194C>T	CA497952779	GUCY2D	c.147C>T (p.Ala49=)	gnomAD v4
17	g.8003195C>A	CA8365477	GUCY2D	c.148C>A (p.Leu50Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003195C=	CA2246053093	GUCY2D	c.148C= (p.Leu50=)
17	g.8003195C>G	CA397942839	GUCY2D	c.148C>G (p.Leu50Val)
17	g.8003195C>T	CA397942840	GUCY2D	c.148C>T (p.Leu50Phe)	gnomAD v4
17	g.8003196T>A	CA397942841	GUCY2D	c.149T>A (p.Leu50His)	dbSNP
17	g.8003196T>C	CA397942842	GUCY2D	c.149T>C (p.Leu50Pro)	dbSNP gnomAD v4
17	g.8003196T>G	CA397942843	GUCY2D	c.149T>G (p.Leu50Arg)
17	g.8003196T=	CA2246053095	GUCY2D	c.149T= (p.Leu50=)
17	g.8003197C>A	CA497952780	GUCY2D	c.150C>A (p.Leu50=)	gnomAD v4
17	g.8003197C>G	CA497952781	GUCY2D	c.150C>G (p.Leu50=)
17	g.8003197C>T	CA497952783	GUCY2D	c.150C>T (p.Leu50=)
17	g.8003197_8003198insAGT	CA2808381307	GUCY2D	c.150_151insAGT (p.Leu50_Ser51insSer)
17	g.8003198T>A	CA397942846	GUCY2D	c.151T>A (p.Ser51Thr)
17	g.8003198T>C	CA397942845	GUCY2D	c.151T>C (p.Ser51Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.8003198T>G	CA397942844	GUCY2D	c.151T>G (p.Ser51Ala)
17	g.8003198T=	CA2246053097	GUCY2D	c.151T= (p.Ser51=)
17	g.8003199C>A	CA397942847	GUCY2D	c.152C>A (p.Ser51Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.8003199C=	CA2246053099	GUCY2D	c.152C= (p.Ser51=)
17	g.8003199C>G	CA397942848	GUCY2D	c.152C>G (p.Ser51Cys)	gnomAD v4
17	g.8003199C>T	CA397942849	GUCY2D	c.152C>T (p.Ser51Phe)	gnomAD v4
17	g.8003200C>A	CA497952785	GUCY2D	c.153C>A (p.Ser51=)	gnomAD v4
17	g.8003200C>G	CA497952786	GUCY2D	c.153C>G (p.Ser51=)
17	g.8003200C>T	CA497952787	GUCY2D	c.153C>T (p.Ser51=)	gnomAD v4
17	g.8003200_8003201insAGT	CA2808381316	GUCY2D	c.153_154insAGT (p.Ser51_Ala52insSer)
17	g.8003201G>A	CA397942850	GUCY2D	c.154G>A (p.Ala52Thr)	gnomAD v4
17	g.8003201G>C	CA397942851	GUCY2D	c.154G>C (p.Ala52Pro)	gnomAD v4
17	g.8003201G=	CA2246053102	GUCY2D	c.154G= (p.Ala52=)
17	g.8003201G>T	CA145842	GUCY2D	c.154G>T (p.Ala52Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched