Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.100390451T>A	CA3936848	SIM1	c.2211A>T (p.Ser737=)	dbSNP ExAC gnomAD v2
6	g.100390451T>C	CA451586088	SIM1	c.2211A>G (p.Ser737=)
6	g.100390451T>G	CA451586087	SIM1	c.2211A>C (p.Ser737=)
6	g.100390451T=	CA1650583883	SIM1	c.2211A= (p.Ser737=)
6	g.100390452G>A	CA365297428	SIM1	c.2210C>T (p.Ser737Leu)
6	g.100390452G>C	CA365297429	SIM1	c.2210C>G (p.Ser737Ter)
6	g.100390452G>T	CA365297430	SIM1	c.2210C>A (p.Ser737Ter)
6	g.100390453A>C	CA365297432	SIM1	c.2209T>G (p.Ser737Ala)
6	g.100390453A>G	CA365297433	SIM1	c.2209T>C (p.Ser737Pro)	COSMIC
6	g.100390453A>T	CA365297431	SIM1	c.2209T>A (p.Ser737Thr)
6	g.100390454G>A	CA451586089	SIM1	c.2208C>T (p.Gly736=)	gnomAD v4
6	g.100390454G>C	CA451586090	SIM1	c.2208C>G (p.Gly736=)	gnomAD v4
6	g.100390454G>T	CA451586091	SIM1	c.2208C>A (p.Gly736=)
6	g.100390455C>A	CA365297434	SIM1	c.2207G>T (p.Gly736Val)	gnomAD v4
6	g.100390455C>G	CA365297435	SIM1	c.2207G>C (p.Gly736Ala)
6	g.100390455C>T	CA365297436	SIM1	c.2207G>A (p.Gly736Asp)
6	g.100390456C>A	CA365297437	SIM1	c.2206G>T (p.Gly736Cys)
6	g.100390456C>G	CA365297438	SIM1	c.2206G>C (p.Gly736Arg)
6	g.100390456C>T	CA365297439	SIM1	c.2206G>A (p.Gly736Ser)
6	g.100390457A>C	CA365297440	SIM1	c.2205T>G (p.Asn735Lys)
6	g.100390457A>G	CA451586092	SIM1	c.2205T>C (p.Asn735=)
6	g.100390457A>T	CA365297441	SIM1	c.2205T>A (p.Asn735Lys)	ClinVar dbSNP
6	g.100390458T>A	CA365297442	SIM1	c.2204A>T (p.Asn735Ile)
6	g.100390458T>C	CA3936849	SIM1	c.2204A>G (p.Asn735Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390458T>G	CA365297443	SIM1	c.2204A>C (p.Asn735Thr)
6	g.100390458T=	CA1650583884	SIM1	c.2204A= (p.Asn735=)
6	g.100390459T>A	CA365297444	SIM1	c.2203A>T (p.Asn735Tyr)
6	g.100390459T>C	CA365297445	SIM1	c.2203A>G (p.Asn735Asp)
6	g.100390459T>G	CA365297446	SIM1	c.2203A>C (p.Asn735His)	dbSNP gnomAD v3 gnomAD v4
6	g.100390459T=	CA1650583885	SIM1	c.2203A= (p.Asn735=)
6	g.100390460A>C	CA365297447	SIM1	c.2202T>G (p.Cys734Trp)
6	g.100390460A>G	CA451586093	SIM1	c.2202T>C (p.Cys734=)
6	g.100390460A>T	CA365297448	SIM1	c.2202T>A (p.Cys734Ter)
6	g.100390461C>A	CA365297449	SIM1	c.2201G>T (p.Cys734Phe)
6	g.100390461C=	CA1650583886	SIM1	c.2201G= (p.Cys734=)
6	g.100390461C>G	CA3936850	SIM1	c.2201G>C (p.Cys734Ser)	dbSNP ExAC gnomAD v2
6	g.100390461C>T	CA365297450	SIM1	c.2201G>A (p.Cys734Tyr)
6	g.100390462A>C	CA365297451	SIM1	c.2200T>G (p.Cys734Gly)
6	g.100390462A>G	CA365297452	SIM1	c.2200T>C (p.Cys734Arg)
6	g.100390462A>T	CA365297453	SIM1	c.2200T>A (p.Cys734Ser)
6	g.100390463G>A	CA451586094	SIM1	c.2199C>T (p.Gly733=)	dbSNP gnomAD v4
6	g.100390463G>C	CA451586095	SIM1	c.2199C>G (p.Gly733=)
6	g.100390463G=	CA1650583887	SIM1	c.2199C= (p.Gly733=)
6	g.100390463G>T	CA451586096	SIM1	c.2199C>A (p.Gly733=)	gnomAD v3 gnomAD v4 COSMIC
6	g.100390464C>A	CA144530182	SIM1	c.2198G>T (p.Gly733Val)	dbSNP gnomAD v3 gnomAD v4
6	g.100390464C=	CA1650583888	SIM1	c.2198G= (p.Gly733=)
6	g.100390464C>G	CA365297454	SIM1	c.2198G>C (p.Gly733Ala)
6	g.100390464C>T	CA365297455	SIM1	c.2198G>A (p.Gly733Asp)	gnomAD v4
6	g.100390465C>A	CA365297456	SIM1	c.2197G>T (p.Gly733Cys)
6	g.100390465C=	CA1650583889	SIM1	c.2197G= (p.Gly733=)
6	g.100390465C>G	CA365297457	SIM1	c.2197G>C (p.Gly733Arg)
6	g.100390465C>T	CA3936851	SIM1	c.2197G>A (p.Gly733Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390466C>A	CA365297458	SIM1	c.2196G>T (p.Leu732Phe)
6	g.100390466C=	CA1650583890	SIM1	c.2196G= (p.Leu732=)
6	g.100390466C>G	CA365297459	SIM1	c.2196G>C (p.Leu732Phe)
6	g.100390466C>T	CA451586097	SIM1	c.2196G>A (p.Leu732=)	dbSNP gnomAD v2 gnomAD v4
6	g.100390467A>C	CA365297462	SIM1	c.2195T>G (p.Leu732Trp)
6	g.100390467A>G	CA365297461	SIM1	c.2195T>C (p.Leu732Ser)
6	g.100390467A>T	CA365297460	SIM1	c.2195T>A (p.Leu732Ter)
6	g.100390468A=	CA1650583891	SIM1	c.2194T= (p.Leu732=)
6	g.100390468A>C	CA365297463	SIM1	c.2194T>G (p.Leu732Val)
6	g.100390468A>G	CA10621026	SIM1	c.2194T>C (p.Leu732=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.100390468A>T	CA365297464	SIM1	c.2194T>A (p.Leu732Met)
6	g.100390469G>A	CA144530183	SIM1	c.2193C>T (p.Ser731=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390469G>C	CA451586098	SIM1	c.2193C>G (p.Ser731=)
6	g.100390469G=	CA1650583892	SIM1	c.2193C= (p.Ser731=)
6	g.100390469G>T	CA3936852	SIM1	c.2193C>A (p.Ser731=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390470G>A	CA365297465	SIM1	c.2192C>T (p.Ser731Phe)	gnomAD v4
6	g.100390470G>C	CA365297466	SIM1	c.2192C>G (p.Ser731Cys)
6	g.100390470G>T	CA365297467	SIM1	c.2192C>A (p.Ser731Tyr)
6	g.100390471A>C	CA365297468	SIM1	c.2191T>G (p.Ser731Ala)
6	g.100390471A>G	CA365297469	SIM1	c.2191T>C (p.Ser731Pro)
6	g.100390471A>T	CA365297470	SIM1	c.2191T>A (p.Ser731Thr)
6	g.100390472A>C	CA365297471	SIM1	c.2190T>G (p.Tyr730Ter)
6	g.100390472A>G	CA451586099	SIM1	c.2190T>C (p.Tyr730=)	gnomAD v4
6	g.100390472A>T	CA365297472	SIM1	c.2190T>A (p.Tyr730Ter)
6	g.100390473T>A	CA365297473	SIM1	c.2189A>T (p.Tyr730Phe)
6	g.100390473T>C	CA144530184	SIM1	c.2189A>G (p.Tyr730Cys)	dbSNP gnomAD v3 gnomAD v4
6	g.100390473T>G	CA3936853	SIM1	c.2189A>C (p.Tyr730Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390473T=	CA1650583893	SIM1	c.2189A= (p.Tyr730=)
6	g.100390474A>C	CA365297474	SIM1	c.2188T>G (p.Tyr730Asp)
6	g.100390474A>G	CA365297475	SIM1	c.2188T>C (p.Tyr730His)
6	g.100390474A>T	CA365297476	SIM1	c.2188T>A (p.Tyr730Asn)
6	g.100390475G>A	CA451586100	SIM1	c.2187C>T (p.Asn729=)
6	g.100390475G>C	CA365297477	SIM1	c.2187C>G (p.Asn729Lys)
6	g.100390475G>T	CA365297478	SIM1	c.2187C>A (p.Asn729Lys)
6	g.100390476T>A	CA365297479	SIM1	c.2186A>T (p.Asn729Ile)
6	g.100390476T>C	CA365297480	SIM1	c.2186A>G (p.Asn729Ser)
6	g.100390476T>G	CA365297481	SIM1	c.2186A>C (p.Asn729Thr)
6	g.100390477T>A	CA365297482	SIM1	c.2185A>T (p.Asn729Tyr)
6	g.100390477T>C	CA365297483	SIM1	c.2185A>G (p.Asn729Asp)	dbSNP gnomAD v2 gnomAD v4
6	g.100390477T>G	CA3936854	SIM1	c.2185A>C (p.Asn729His)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390477T=	CA1650583894	SIM1	c.2185A= (p.Asn729=)
6	g.100390478T>A	CA365297484	SIM1	c.2184A>T (p.Arg728Ser)	COSMIC
6	g.100390478T>C	CA451586101	SIM1	c.2184A>G (p.Arg728=)
6	g.100390478T>G	CA365297485	SIM1	c.2184A>C (p.Arg728Ser)
6	g.100390479C>A	CA365297488	SIM1	c.2183G>T (p.Arg728Ile)
6	g.100390479C>G	CA365297486	SIM1	c.2183G>C (p.Arg728Thr)
6	g.100390479C>T	CA365297487	SIM1	c.2183G>A (p.Arg728Lys)
6	g.100390480T>A	CA365297489	SIM1	c.2182A>T (p.Arg728Ter)
6	g.100390480T>C	CA365297490	SIM1	c.2182A>G (p.Arg728Gly)
6	g.100390480T>G	CA451586102	SIM1	c.2182A>C (p.Arg728=)
6	g.100390481A>C	CA365297491	SIM1	c.2181T>G (p.Ile727Met)
6	g.100390481A>G	CA451586103	SIM1	c.2181T>C (p.Ile727=)
6	g.100390481A>T	CA451586104	SIM1	c.2181T>A (p.Ile727=)
6	g.100390482A>C	CA365297492	SIM1	c.2180T>G (p.Ile727Ser)
6	g.100390482A>G	CA365297493	SIM1	c.2180T>C (p.Ile727Thr)
6	g.100390482A>T	CA365297494	SIM1	c.2180T>A (p.Ile727Asn)
6	g.100390483T>A	CA365297495	SIM1	c.2179A>T (p.Ile727Phe)	dbSNP gnomAD v3 gnomAD v4
6	g.100390483T>C	CA3936855	SIM1	c.2179A>G (p.Ile727Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390483T>G	CA365297496	SIM1	c.2179A>C (p.Ile727Leu)
6	g.100390483T=	CA1650583895	SIM1	c.2179A= (p.Ile727=)
6	g.100390484G>A	CA3936856	SIM1	c.2178C>T (p.Thr726=)	ClinVar dbSNP ExAC gnomAD v4
6	g.100390484G>C	CA451586105	SIM1	c.2178C>G (p.Thr726=)
6	g.100390484G=	CA1650583896	SIM1	c.2178C= (p.Thr726=)
6	g.100390484G>T	CA451586106	SIM1	c.2178C>A (p.Thr726=)	gnomAD v4
6	g.100390485G>A	CA3936857	SIM1	c.2177C>T (p.Thr726Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390485G>C	CA365297497	SIM1	c.2177C>G (p.Thr726Ser)
6	g.100390485G=	CA1650583897	SIM1	c.2177C= (p.Thr726=)
6	g.100390485G>T	CA365297498	SIM1	c.2177C>A (p.Thr726Asn)
6	g.100390486T>A	CA365297500	SIM1	c.2176A>T (p.Thr726Ser)	gnomAD v4
6	g.100390486T>C	CA144530185	SIM1	c.2176A>G (p.Thr726Ala)	dbSNP
6	g.100390486T>G	CA365297499	SIM1	c.2176A>C (p.Thr726Pro)
6	g.100390486T=	CA1650583898	SIM1	c.2176A= (p.Thr726=)
6	g.100390487T>A	CA365297502	SIM1	c.2175A>T (p.Glu725Asp)
6	g.100390487T>C	CA451586107	SIM1	c.2175A>G (p.Glu725=)	dbSNP gnomAD v2 gnomAD v4
6	g.100390487T>G	CA365297501	SIM1	c.2175A>C (p.Glu725Asp)
6	g.100390487T=	CA1650583899	SIM1	c.2175A= (p.Glu725=)
6	g.100390488T>A	CA365297505	SIM1	c.2174A>T (p.Glu725Val)
6	g.100390488T>C	CA365297503	SIM1	c.2174A>G (p.Glu725Gly)
6	g.100390488T>G	CA365297504	SIM1	c.2174A>C (p.Glu725Ala)
6	g.100390489C>A	CA365297506	SIM1	c.2173G>T (p.Glu725Ter)
6	g.100390489C=	CA1650583900	SIM1	c.2173G= (p.Glu725=)
6	g.100390489C>G	CA365297507	SIM1	c.2173G>C (p.Glu725Gln)
6	g.100390489C>T	CA3936858	SIM1	c.2173G>A (p.Glu725Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.100390490G>A	CA3936859	SIM1	c.2172C>T (p.Ser724=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.100390490G>C	CA365297508	SIM1	c.2172C>G (p.Ser724Arg)
6	g.100390490G=	CA1650583901	SIM1	c.2172C= (p.Ser724=)
6	g.100390490G>T	CA365297509	SIM1	c.2172C>A (p.Ser724Arg)	gnomAD v4
6	g.100390491C>A	CA365297510	SIM1	c.2171G>T (p.Ser724Ile)
6	g.100390491C=	CA1650583902	SIM1	c.2171G= (p.Ser724=)
6	g.100390491C>G	CA365297511	SIM1	c.2171G>C (p.Ser724Thr)
6	g.100390491C>T	CA3936860	SIM1	c.2171G>A (p.Ser724Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390492T>A	CA365297514	SIM1	c.2170A>T (p.Ser724Cys)	ClinVar dbSNP
6	g.100390492T>C	CA365297513	SIM1	c.2170A>G (p.Ser724Gly)
6	g.100390492T>G	CA365297512	SIM1	c.2170A>C (p.Ser724Arg)
6	g.100390492T=	CA1650583903	SIM1	c.2170A= (p.Ser724=)
6	g.100390493G>A	CA451586108	SIM1	c.2169C>T (p.Asp723=)	gnomAD v4
6	g.100390493G>C	CA365297515	SIM1	c.2169C>G (p.Asp723Glu)
6	g.100390493G>T	CA365297516	SIM1	c.2169C>A (p.Asp723Glu)
6	g.100390494T>A	CA3936862	SIM1	c.2168A>T (p.Asp723Val)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390494T>C	CA3936861	SIM1	c.2168A>G (p.Asp723Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390494T>G	CA365297517	SIM1	c.2168A>C (p.Asp723Ala)
6	g.100390494T=	CA1650583904	SIM1	c.2168A= (p.Asp723=)
6	g.100390495C>A	CA365297518	SIM1	c.2167G>T (p.Asp723Tyr)
6	g.100390495C>G	CA365297519	SIM1	c.2167G>C (p.Asp723His)
6	g.100390495C>T	CA365297520	SIM1	c.2167G>A (p.Asp723Asn)
6	g.100390496A>C	CA365297521	SIM1	c.2166T>G (p.Tyr722Ter)
6	g.100390496A>G	CA451586109	SIM1	c.2166T>C (p.Tyr722=)
6	g.100390496A>T	CA365297522	SIM1	c.2166T>A (p.Tyr722Ter)
6	g.100390497T>A	CA365297523	SIM1	c.2165A>T (p.Tyr722Phe)
6	g.100390497T>C	CA3936863	SIM1	c.2165A>G (p.Tyr722Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390497T>G	CA365297524	SIM1	c.2165A>C (p.Tyr722Ser)
6	g.100390497T=	CA1650583905	SIM1	c.2165A= (p.Tyr722=)
6	g.100390498A=	CA1650583906	SIM1	c.2164T= (p.Tyr722=)
6	g.100390498A>C	CA365297527	SIM1	c.2164T>G (p.Tyr722Asp)
6	g.100390498A>G	CA365297526	SIM1	c.2164T>C (p.Tyr722His)	dbSNP gnomAD v4
6	g.100390498A>T	CA365297525	SIM1	c.2164T>A (p.Tyr722Asn)
6	g.100390499T>A	CA365297529	SIM1	c.2163A>T (p.Leu721Phe)
6	g.100390499T>C	CA3936864	SIM1	c.2163A>G (p.Leu721=)	dbSNP ExAC gnomAD v4
6	g.100390499T>G	CA365297528	SIM1	c.2163A>C (p.Leu721Phe)
6	g.100390499T=	CA1650583907	SIM1	c.2163A= (p.Leu721=)
6	g.100390500A=	CA1650583908	SIM1	c.2162T= (p.Leu721=)
6	g.100390500A>C	CA365297530	SIM1	c.2162T>G (p.Leu721Ter)
6	g.100390500A>G	CA365297531	SIM1	c.2162T>C (p.Leu721Ser)	dbSNP
6	g.100390500A>T	CA365297532	SIM1	c.2162T>A (p.Leu721Ter)
6	g.100390501A>C	CA365297533	SIM1	c.2161T>G (p.Leu721Val)
6	g.100390501A>G	CA451586110	SIM1	c.2161T>C (p.Leu721=)	gnomAD v4
6	g.100390501A>T	CA365297534	SIM1	c.2161T>A (p.Leu721Ile)
6	g.100390502G>A	CA451586111	SIM1	c.2160C>T (p.His720=)	gnomAD v4
6	g.100390502G>C	CA365297535	SIM1	c.2160C>G (p.His720Gln)
6	g.100390502G>T	CA365297536	SIM1	c.2160C>A (p.His720Gln)
6	g.100390503T>A	CA365297537	SIM1	c.2159A>T (p.His720Leu)
6	g.100390503T>C	CA365297538	SIM1	c.2159A>G (p.His720Arg)
6	g.100390503T>G	CA365297539	SIM1	c.2159A>C (p.His720Pro)
6	g.100390504G>A	CA365297541	SIM1	c.2158C>T (p.His720Tyr)	gnomAD v4
6	g.100390504G>C	CA365297542	SIM1	c.2158C>G (p.His720Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.100390504G=	CA1650583909	SIM1	c.2158C= (p.His720=)
6	g.100390504G>T	CA365297540	SIM1	c.2158C>A (p.His720Asn)
6	g.100390505C>A	CA365297543	SIM1	c.2157G>T (p.Glu719Asp)	dbSNP
6	g.100390505C=	CA1650583910	SIM1	c.2157G= (p.Glu719=)
6	g.100390505C>G	CA365297544	SIM1	c.2157G>C (p.Glu719Asp)
6	g.100390505C>T	CA451586112	SIM1	c.2157G>A (p.Glu719=)	dbSNP gnomAD v2 gnomAD v4
6	g.100390506T>A	CA365297545	SIM1	c.2156A>T (p.Glu719Val)
6	g.100390506T>C	CA365297546	SIM1	c.2156A>G (p.Glu719Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.100390506T>G	CA365297547	SIM1	c.2156A>C (p.Glu719Ala)
6	g.100390506T=	CA1650583911	SIM1	c.2156A= (p.Glu719=)
6	g.100390507C>A	CA365297550	SIM1	c.2155G>T (p.Glu719Ter)
6	g.100390507C>G	CA365297548	SIM1	c.2155G>C (p.Glu719Gln)
6	g.100390507C>T	CA365297549	SIM1	c.2155G>A (p.Glu719Lys)
6	g.100390508C>A	CA451586114	SIM1	c.2154G>T (p.Leu718=)
6	g.100390508C=	CA1650583912	SIM1	c.2154G= (p.Leu718=)
6	g.100390508C>G	CA451586113	SIM1	c.2154G>C (p.Leu718=)
6	g.100390508C>T	CA3936865	SIM1	c.2154G>A (p.Leu718=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390509A=	CA1650583913	SIM1	c.2153T= (p.Leu718=)
6	g.100390509A>C	CA365297551	SIM1	c.2153T>G (p.Leu718Arg)
6	g.100390509A>G	CA365297552	SIM1	c.2153T>C (p.Leu718Pro)	dbSNP gnomAD v4
6	g.100390509A>T	CA365297553	SIM1	c.2153T>A (p.Leu718Gln)
6	g.100390510G>A	CA451586115	SIM1	c.2152C>T (p.Leu718=)
6	g.100390510G>C	CA365297554	SIM1	c.2152C>G (p.Leu718Val)
6	g.100390510G>T	CA365297555	SIM1	c.2152C>A (p.Leu718Met)
6	g.100390511G>A	CA451586116	SIM1	c.2151C>T (p.Ala717=)
6	g.100390511G>C	CA451586117	SIM1	c.2151C>G (p.Ala717=)
6	g.100390511G>T	CA451586118	SIM1	c.2151C>A (p.Ala717=)
6	g.100390512G>A	CA365297558	SIM1	c.2150C>T (p.Ala717Val)
6	g.100390512G>C	CA365297557	SIM1	c.2150C>G (p.Ala717Gly)
6	g.100390512G>T	CA365297556	SIM1	c.2150C>A (p.Ala717Asp)
6	g.100390513C>A	CA365297559	SIM1	c.2149G>T (p.Ala717Ser)
6	g.100390513C>G	CA365297560	SIM1	c.2149G>C (p.Ala717Pro)
6	g.100390513C>T	CA365297561	SIM1	c.2149G>A (p.Ala717Thr)
6	g.100390514A>C	CA365297562	SIM1	c.2148T>G (p.Tyr716Ter)
6	g.100390514A>G	CA451586119	SIM1	c.2148T>C (p.Tyr716=)
6	g.100390514A>T	CA365297563	SIM1	c.2148T>A (p.Tyr716Ter)	ClinVar
6	g.100390515T>A	CA365297564	SIM1	c.2147A>T (p.Tyr716Phe)
6	g.100390515T>C	CA365297565	SIM1	c.2147A>G (p.Tyr716Cys)
6	g.100390515T>G	CA365297566	SIM1	c.2147A>C (p.Tyr716Ser)
6	g.100390516A>C	CA365297567	SIM1	c.2146T>G (p.Tyr716Asp)
6	g.100390516A>G	CA365297568	SIM1	c.2146T>C (p.Tyr716His)	gnomAD v4
6	g.100390516A>T	CA365297569	SIM1	c.2146T>A (p.Tyr716Asn)
6	g.100390517T>A	CA451586120	SIM1	c.2145A>T (p.Gly715=)
6	g.100390517T>C	CA451586121	SIM1	c.2145A>G (p.Gly715=)	dbSNP
6	g.100390517T>G	CA451586122	SIM1	c.2145A>C (p.Gly715=)
6	g.100390517T=	CA1650583914	SIM1	c.2145A= (p.Gly715=)
6	g.100390518C>A	CA3936866	SIM1	c.2144G>T (p.Gly715Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390518C=	CA1650583915	SIM1	c.2144G= (p.Gly715=)
6	g.100390518C>G	CA365297570	SIM1	c.2144G>C (p.Gly715Ala)
6	g.100390518C>T	CA365297571	SIM1	c.2144G>A (p.Gly715Glu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.100390519C>A	CA365297574	SIM1	c.2143G>T (p.Gly715Ter)
6	g.100390519C>G	CA365297573	SIM1	c.2143G>C (p.Gly715Arg)
6	g.100390519C>T	CA365297572	SIM1	c.2143G>A (p.Gly715Arg)
6	g.100390520A>C	CA451586123	SIM1	c.2142T>G (p.Thr714=)
6	g.100390520A>G	CA451586124	SIM1	c.2142T>C (p.Thr714=)
6	g.100390520A>T	CA451586125	SIM1	c.2142T>A (p.Thr714=)
6	g.100390521G>A	CA365297575	SIM1	c.2141C>T (p.Thr714Ile)
6	g.100390521G>C	CA365297576	SIM1	c.2141C>G (p.Thr714Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.100390521G=	CA1650583916	SIM1	c.2141C= (p.Thr714=)
6	g.100390521G>T	CA365297577	SIM1	c.2141C>A (p.Thr714Asn)
6	g.100390522T>A	CA365297578	SIM1	c.2140A>T (p.Thr714Ser)
6	g.100390522T>C	CA3936867	SIM1	c.2140A>G (p.Thr714Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390522T>G	CA365297579	SIM1	c.2140A>C (p.Thr714Pro)	gnomAD v4
6	g.100390522T=	CA1650583917	SIM1	c.2140A= (p.Thr714=)
6	g.100390522_100390524delinsTTA	CA1650583918	SIM1	c.2138_2140delinsTAA (p.Leu713=)
6	g.100390523T>A	CA365297580	SIM1	c.2139A>T (p.Leu713Phe)
6	g.100390523T>C	CA451586128	SIM1	c.2139A>G (p.Leu713=)
6	g.100390523T>G	CA365297581	SIM1	c.2139A>C (p.Leu713Phe)	gnomAD v4
6	g.100390523_100390524del	CA569565154	SIM1	c.2138_2139del (p.Leu713TyrfsTer10)	dbSNP gnomAD v2 gnomAD v4
6	g.100390524A>C	CA365297582	SIM1	c.2138T>G (p.Leu713Ter)
6	g.100390524A>G	CA365297583	SIM1	c.2138T>C (p.Leu713Ser)
6	g.100390524A>T	CA365297584	SIM1	c.2138T>A (p.Leu713Ter)
6	g.100390525A>C	CA365297585	SIM1	c.2137T>G (p.Leu713Val)
6	g.100390525A>G	CA451586130	SIM1	c.2137T>C (p.Leu713=)
6	g.100390525A>T	CA365297586	SIM1	c.2137T>A (p.Leu713Ile)
6	g.100390526T>A	CA3936868	SIM1	c.2136A>T (p.Thr712=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390526T>C	CA451586131	SIM1	c.2136A>G (p.Thr712=)	dbSNP
6	g.100390526T>G	CA451586132	SIM1	c.2136A>C (p.Thr712=)
6	g.100390526T=	CA1650583919	SIM1	c.2136A= (p.Thr712=)
6	g.100390527G>A	CA3936869	SIM1	c.2135C>T (p.Thr712Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390527G>C	CA365297588	SIM1	c.2135C>G (p.Thr712Arg)
6	g.100390527G=	CA1650583920	SIM1	c.2135C= (p.Thr712=)
6	g.100390527G>T	CA365297587	SIM1	c.2135C>A (p.Thr712Lys)
6	g.100390528T>A	CA365297589	SIM1	c.2134A>T (p.Thr712Ser)
6	g.100390528T>C	CA365297590	SIM1	c.2134A>G (p.Thr712Ala)
6	g.100390528T>G	CA365297591	SIM1	c.2134A>C (p.Thr712Pro)
6	g.100390529G>A	CA451586134	SIM1	c.2133C>T (p.Tyr711=)	gnomAD v4
6	g.100390529G>C	CA365297592	SIM1	c.2133C>G (p.Tyr711Ter)
6	g.100390529G>T	CA365297593	SIM1	c.2133C>A (p.Tyr711Ter)
6	g.100390530T>A	CA365297596	SIM1	c.2132A>T (p.Tyr711Phe)	gnomAD v4
6	g.100390530T>C	CA365297595	SIM1	c.2132A>G (p.Tyr711Cys)	gnomAD v4
6	g.100390530T>G	CA365297594	SIM1	c.2132A>C (p.Tyr711Ser)
6	g.100390531A>C	CA365297597	SIM1	c.2131T>G (p.Tyr711Asp)
6	g.100390531A>G	CA365297598	SIM1	c.2131T>C (p.Tyr711His)
6	g.100390531A>T	CA365297599	SIM1	c.2131T>A (p.Tyr711Asn)
6	g.100390532A>C	CA451586136	SIM1	c.2130T>G (p.Ala710=)
6	g.100390532A>G	CA451586137	SIM1	c.2130T>C (p.Ala710=)
6	g.100390532A>T	CA451586138	SIM1	c.2130T>A (p.Ala710=)	gnomAD v4
6	g.100390533G>A	CA365297600	SIM1	c.2129C>T (p.Ala710Val)	dbSNP
6	g.100390533G>C	CA365297601	SIM1	c.2129C>G (p.Ala710Gly)	dbSNP gnomAD v4
6	g.100390533G=	CA1650583921	SIM1	c.2129C= (p.Ala710=)
6	g.100390533G>T	CA365297602	SIM1	c.2129C>A (p.Ala710Asp)
6	g.100390534C>A	CA365297603	SIM1	c.2128G>T (p.Ala710Ser)
6	g.100390534C>G	CA365297605	SIM1	c.2128G>C (p.Ala710Pro)
6	g.100390534C>T	CA365297604	SIM1	c.2128G>A (p.Ala710Thr)
6	g.100390535A=	CA1650583922	SIM1	c.2127T= (p.His709=)
6	g.100390535A>C	CA365297606	SIM1	c.2127T>G (p.His709Gln)
6	g.100390535A>G	CA451586142	SIM1	c.2127T>C (p.His709=)	dbSNP
6	g.100390535A>T	CA365297607	SIM1	c.2127T>A (p.His709Gln)
6	g.100390536T>A	CA365297608	SIM1	c.2126A>T (p.His709Leu)
6	g.100390536T>C	CA365297609	SIM1	c.2126A>G (p.His709Arg)	gnomAD v4
6	g.100390536T>G	CA3936870	SIM1	c.2126A>C (p.His709Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390536T=	CA1650583923	SIM1	c.2126A= (p.His709=)
6	g.100390537G>A	CA365297610	SIM1	c.2125C>T (p.His709Tyr)
6	g.100390537G>C	CA365297611	SIM1	c.2125C>G (p.His709Asp)
6	g.100390537G>T	CA365297612	SIM1	c.2125C>A (p.His709Asn)
6	g.100390538C>A	CA365297613	SIM1	c.2124G>T (p.Lys708Asn)
6	g.100390538C=	CA1650583924	SIM1	c.2124G= (p.Lys708=)
6	g.100390538C>G	CA365297614	SIM1	c.2124G>C (p.Lys708Asn)
6	g.100390538C>T	CA144530186	SIM1	c.2124G>A (p.Lys708=)	dbSNP
6	g.100390539T>A	CA365297615	SIM1	c.2123A>T (p.Lys708Met)
6	g.100390539T>C	CA16618228	SIM1	c.2123A>G (p.Lys708Arg)	ClinVar dbSNP gnomAD v4
6	g.100390539T>G	CA365297616	SIM1	c.2123A>C (p.Lys708Thr)
6	g.100390539T=	CA1650583925	SIM1	c.2123A= (p.Lys708=)
6	g.100390540T>A	CA365297617	SIM1	c.2122A>T (p.Lys708Ter)
6	g.100390540T>C	CA365297619	SIM1	c.2122A>G (p.Lys708Glu)
6	g.100390540T>G	CA365297618	SIM1	c.2122A>C (p.Lys708Gln)
6	g.100390541G>A	CA451586145	SIM1	c.2121C>T (p.Asp707=)	gnomAD v4
6	g.100390541G>C	CA365297620	SIM1	c.2121C>G (p.Asp707Glu)
6	g.100390541G=	CA1650583926	SIM1	c.2121C= (p.Asp707=)
6	g.100390541G>T	CA144530187	SIM1	c.2121C>A (p.Asp707Glu)	dbSNP gnomAD v2 gnomAD v4
6	g.100390542T>A	CA365297621	SIM1	c.2120A>T (p.Asp707Val)
6	g.100390542T>C	CA365297622	SIM1	c.2120A>G (p.Asp707Gly)
6	g.100390542T>G	CA365297623	SIM1	c.2120A>C (p.Asp707Ala)
6	g.100390543C>A	CA144530188	SIM1	c.2119G>T (p.Asp707Tyr)	dbSNP
6	g.100390543C=	CA1650583927	SIM1	c.2119G= (p.Asp707=)
6	g.100390543C>G	CA3936871	SIM1	c.2119G>C (p.Asp707His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390543C>T	CA365297624	SIM1	c.2119G>A (p.Asp707Asn)
6	g.100390543_100390544delinsCA	CA1650583928	SIM1	c.2118_2119delinsTG (p.Phe706=)
6	g.100390544A>C	CA365297625	SIM1	c.2118T>G (p.Phe706Leu)	dbSNP
6	g.100390544A>G	CA451586148	SIM1	c.2118T>C (p.Phe706=)
6	g.100390544A>T	CA365297626	SIM1	c.2118T>A (p.Phe706Leu)
6	g.100390547del	CA816236028	SIM1	c.2118del (p.Phe706LeufsTer8)	dbSNP
6	g.100390545A>C	CA365297627	SIM1	c.2117T>G (p.Phe706Cys)
6	g.100390545A>G	CA365297628	SIM1	c.2117T>C (p.Phe706Ser)
6	g.100390545A>T	CA365297629	SIM1	c.2117T>A (p.Phe706Tyr)
6	g.100390546A>C	CA365297632	SIM1	c.2116T>G (p.Phe706Val)
6	g.100390546A>G	CA365297631	SIM1	c.2116T>C (p.Phe706Leu)
6	g.100390546A>T	CA365297630	SIM1	c.2116T>A (p.Phe706Ile)
6	g.100390547A>C	CA365297633	SIM1	c.2115T>G (p.Tyr705Ter)
6	g.100390547A>G	CA451586150	SIM1	c.2115T>C (p.Tyr705=)
6	g.100390547A>T	CA365297634	SIM1	c.2115T>A (p.Tyr705Ter)
6	g.100390548T>A	CA365297635	SIM1	c.2114A>T (p.Tyr705Phe)
6	g.100390548T>C	CA365297636	SIM1	c.2114A>G (p.Tyr705Cys)
6	g.100390548T>G	CA365297637	SIM1	c.2114A>C (p.Tyr705Ser)
6	g.100390549A>C	CA365297638	SIM1	c.2113T>G (p.Tyr705Asp)
6	g.100390549A>G	CA365297639	SIM1	c.2113T>C (p.Tyr705His)
6	g.100390549A>T	CA365297640	SIM1	c.2113T>A (p.Tyr705Asn)
6	g.100390550C>A	CA365297641	SIM1	c.2112G>T (p.Gln704His)	COSMIC
6	g.100390550C>G	CA365297642	SIM1	c.2112G>C (p.Gln704His)
6	g.100390550C>T	CA451586153	SIM1	c.2112G>A (p.Gln704=)
6	g.100390551T>A	CA10622504	SIM1	c.2111A>T (p.Gln704Leu)	ClinVar dbSNP gnomAD v4
6	g.100390551T>C	CA365297643	SIM1	c.2111A>G (p.Gln704Arg)
6	g.100390551T>G	CA365297644	SIM1	c.2111A>C (p.Gln704Pro)
6	g.100390551T=	CA1650583929	SIM1	c.2111A= (p.Gln704=)

Number of alleles fetched