Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
6	g.100390552G>A	CA365297646	SIM1	c.2110C>T (p.Gln704Ter)
6	g.100390552G>C	CA3936872	SIM1	c.2110C>G (p.Gln704Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390552G=	CA1650583930	SIM1	c.2110C= (p.Gln704=)
6	g.100390552G>T	CA365297645	SIM1	c.2110C>A (p.Gln704Lys)
6	g.100390553C>A	CA451586155	SIM1	c.2109G>T (p.Arg703=)	gnomAD v4
6	g.100390553C>G	CA451586156	SIM1	c.2109G>C (p.Arg703=)
6	g.100390553C>T	CA451586157	SIM1	c.2109G>A (p.Arg703=)	COSMIC
6	g.100390554C>A	CA365297647	SIM1	c.2108G>T (p.Arg703Leu)
6	g.100390554C=	CA1650583931	SIM1	c.2108G= (p.Arg703=)
6	g.100390554C>G	CA365297648	SIM1	c.2108G>C (p.Arg703Pro)
6	g.100390554C>T	CA3936873	SIM1	c.2108G>A (p.Arg703Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390555G>A	CA3936874	SIM1	c.2107C>T (p.Arg703Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390555G>C	CA3936875	SIM1	c.2107C>G (p.Arg703Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390555G=	CA1650583932	SIM1	c.2107C= (p.Arg703=)
6	g.100390555G>T	CA451586158	SIM1	c.2107C>A (p.Arg703=)
6	g.100390556G>A	CA3936877	SIM1	c.2106C>T (p.His702=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390556G>C	CA3936876	SIM1	c.2106C>G (p.His702Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390556G=	CA1650583933	SIM1	c.2106C= (p.His702=)
6	g.100390556G>T	CA365297649	SIM1	c.2106C>A (p.His702Gln)
6	g.100390557T>A	CA365297650	SIM1	c.2105A>T (p.His702Leu)
6	g.100390557T>C	CA365297651	SIM1	c.2105A>G (p.His702Arg)
6	g.100390557T>G	CA365297652	SIM1	c.2105A>C (p.His702Pro)
6	g.100390558G>A	CA3936878	SIM1	c.2104C>T (p.His702Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390558G>C	CA365297654	SIM1	c.2104C>G (p.His702Asp)
6	g.100390558G=	CA1650583934	SIM1	c.2104C= (p.His702=)
6	g.100390558G>T	CA365297653	SIM1	c.2104C>A (p.His702Asn)
6	g.100390559A>C	CA451586160	SIM1	c.2103T>G (p.Ser701=)
6	g.100390559A>G	CA451586161	SIM1	c.2103T>C (p.Ser701=)
6	g.100390559A>T	CA451586163	SIM1	c.2103T>A (p.Ser701=)	gnomAD v4
6	g.100390560G>A	CA365297655	SIM1	c.2102C>T (p.Ser701Phe)
6	g.100390560G>C	CA365297656	SIM1	c.2102C>G (p.Ser701Cys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
6	g.100390560G=	CA1650583935	SIM1	c.2102C= (p.Ser701=)
6	g.100390560G>T	CA365297657	SIM1	c.2102C>A (p.Ser701Tyr)
6	g.100390561A>C	CA365297658	SIM1	c.2101T>G (p.Ser701Ala)
6	g.100390561A>G	CA365297659	SIM1	c.2101T>C (p.Ser701Pro)
6	g.100390561A>T	CA365297660	SIM1	c.2101T>A (p.Ser701Thr)
6	g.100390562G>A	CA3936880	SIM1	c.2100C>T (p.Gly700=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390562G>C	CA3936879	SIM1	c.2100C>G (p.Gly700=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390562G=	CA1650583936	SIM1	c.2100C= (p.Gly700=)
6	g.100390562G>T	CA451586164	SIM1	c.2100C>A (p.Gly700=)
6	g.100390563C>A	CA365297661	SIM1	c.2099G>T (p.Gly700Val)
6	g.100390563C>G	CA365297662	SIM1	c.2099G>C (p.Gly700Ala)
6	g.100390563C>T	CA365297663	SIM1	c.2099G>A (p.Gly700Asp)	COSMIC
6	g.100390564C>A	CA365297666	SIM1	c.2098G>T (p.Gly700Cys)
6	g.100390564C>G	CA365297665	SIM1	c.2098G>C (p.Gly700Arg)
6	g.100390564C>T	CA365297664	SIM1	c.2098G>A (p.Gly700Ser)
6	g.100390565A>C	CA365297667	SIM1	c.2097T>G (p.Phe699Leu)
6	g.100390565A>G	CA451586168	SIM1	c.2097T>C (p.Phe699=)
6	g.100390565A>T	CA365297668	SIM1	c.2097T>A (p.Phe699Leu)
6	g.100390566A=	CA1650583937	SIM1	c.2096T= (p.Phe699=)
6	g.100390566A>C	CA365297669	SIM1	c.2096T>G (p.Phe699Cys)
6	g.100390566A>G	CA3936881	SIM1	c.2096T>C (p.Phe699Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390566A>T	CA365297670	SIM1	c.2096T>A (p.Phe699Tyr)
6	g.100390567A>C	CA365297671	SIM1	c.2095T>G (p.Phe699Val)
6	g.100390567A>G	CA365297672	SIM1	c.2095T>C (p.Phe699Leu)	gnomAD v4
6	g.100390567A>T	CA365297673	SIM1	c.2095T>A (p.Phe699Ile)	gnomAD v4
6	g.100390568G>A	CA451586171	SIM1	c.2094C>T (p.Cys698=)
6	g.100390568G>C	CA365297674	SIM1	c.2094C>G (p.Cys698Trp)	gnomAD v4
6	g.100390568G>T	CA365297675	SIM1	c.2094C>A (p.Cys698Ter)
6	g.100390569C>A	CA365297676	SIM1	c.2093G>T (p.Cys698Phe)	ClinVar dbSNP
6	g.100390569C=	CA1650583938	SIM1	c.2093G= (p.Cys698=)
6	g.100390569C>G	CA365297677	SIM1	c.2093G>C (p.Cys698Ser)
6	g.100390569C>T	CA365297678	SIM1	c.2093G>A (p.Cys698Tyr)
6	g.100390570A>C	CA365297681	SIM1	c.2092T>G (p.Cys698Gly)
6	g.100390570A>G	CA365297680	SIM1	c.2092T>C (p.Cys698Arg)
6	g.100390570A>T	CA365297679	SIM1	c.2092T>A (p.Cys698Ser)
6	g.100390571G>A	CA451586173	SIM1	c.2091C>T (p.Asn697=)
6	g.100390571G>C	CA365297682	SIM1	c.2091C>G (p.Asn697Lys)
6	g.100390571G>T	CA365297683	SIM1	c.2091C>A (p.Asn697Lys)
6	g.100390572T>A	CA365297684	SIM1	c.2090A>T (p.Asn697Ile)
6	g.100390572T>C	CA365297685	SIM1	c.2090A>G (p.Asn697Ser)	COSMIC
6	g.100390572T>G	CA365297686	SIM1	c.2090A>C (p.Asn697Thr)
6	g.100390573T>A	CA365297687	SIM1	c.2089A>T (p.Asn697Tyr)
6	g.100390573T>C	CA365297688	SIM1	c.2089A>G (p.Asn697Asp)
6	g.100390573T>G	CA365297689	SIM1	c.2089A>C (p.Asn697His)	gnomAD v4
6	g.100390574T>A	CA451586177	SIM1	c.2088A>T (p.Pro696=)
6	g.100390574T>C	CA451586178	SIM1	c.2088A>G (p.Pro696=)
6	g.100390574T>G	CA451586179	SIM1	c.2088A>C (p.Pro696=)
6	g.100390575G>A	CA365297690	SIM1	c.2087C>T (p.Pro696Leu)
6	g.100390575G>C	CA365297691	SIM1	c.2087C>G (p.Pro696Arg)
6	g.100390575G>T	CA365297692	SIM1	c.2087C>A (p.Pro696Gln)
6	g.100390576G>A	CA365297693	SIM1	c.2086C>T (p.Pro696Ser)
6	g.100390576G>C	CA365297694	SIM1	c.2086C>G (p.Pro696Ala)
6	g.100390576G>T	CA365297695	SIM1	c.2086C>A (p.Pro696Thr)
6	g.100390577A>C	CA451586182	SIM1	c.2085T>G (p.Ser695=)
6	g.100390577A>G	CA451586183	SIM1	c.2085T>C (p.Ser695=)
6	g.100390577A>T	CA451586181	SIM1	c.2085T>A (p.Ser695=)
6	g.100390578G>A	CA365297697	SIM1	c.2084C>T (p.Ser695Phe)	gnomAD v4
6	g.100390578G>C	CA365297698	SIM1	c.2084C>G (p.Ser695Cys)
6	g.100390578G>T	CA365297696	SIM1	c.2084C>A (p.Ser695Tyr)
6	g.100390579A=	CA1650583939	SIM1	c.2083T= (p.Ser695=)
6	g.100390579A>C	CA365297699	SIM1	c.2083T>G (p.Ser695Ala)
6	g.100390579A>G	CA365297700	SIM1	c.2083T>C (p.Ser695Pro)
6	g.100390579A>T	CA3936882	SIM1	c.2083T>A (p.Ser695Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390580G>A	CA451586190	SIM1	c.2082C>T (p.Val694=)	dbSNP gnomAD v3 gnomAD v4
6	g.100390580G>C	CA451586187	SIM1	c.2082C>G (p.Val694=)
6	g.100390580G=	CA1650583940	SIM1	c.2082C= (p.Val694=)
6	g.100390580G>T	CA451586188	SIM1	c.2082C>A (p.Val694=)
6	g.100390581A>C	CA365297701	SIM1	c.2081T>G (p.Val694Gly)
6	g.100390581A>G	CA365297702	SIM1	c.2081T>C (p.Val694Ala)
6	g.100390581A>T	CA365297703	SIM1	c.2081T>A (p.Val694Asp)
6	g.100390582C>A	CA365297704	SIM1	c.2080G>T (p.Val694Phe)	gnomAD v4
6	g.100390582C=	CA1650583941	SIM1	c.2080G= (p.Val694=)
6	g.100390582C>G	CA144530189	SIM1	c.2080G>C (p.Val694Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.100390582C>T	CA365297705	SIM1	c.2080G>A (p.Val694Ile)	gnomAD v4
6	g.100390582dup	CA2679791235	SIM1	c.2080dup (p.Val694GlyfsTer14)	gnomAD v4
6	g.100390583A=	CA1650583942	SIM1	c.2079T= (p.Thr693=)
6	g.100390583A>C	CA451586192	SIM1	c.2079T>G (p.Thr693=)
6	g.100390583A>G	CA451586193	SIM1	c.2079T>C (p.Thr693=)	dbSNP
6	g.100390583A>T	CA3936883	SIM1	c.2079T>A (p.Thr693=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390584G>A	CA365297706	SIM1	c.2078C>T (p.Thr693Ile)
6	g.100390584G>C	CA365297707	SIM1	c.2078C>G (p.Thr693Ser)
6	g.100390584G>T	CA365297708	SIM1	c.2078C>A (p.Thr693Asn)
6	g.100390585T>A	CA365297709	SIM1	c.2077A>T (p.Thr693Ser)
6	g.100390585T>C	CA365297711	SIM1	c.2077A>G (p.Thr693Ala)	dbSNP gnomAD v4
6	g.100390585T>G	CA365297710	SIM1	c.2077A>C (p.Thr693Pro)
6	g.100390585T=	CA1650583943	SIM1	c.2077A= (p.Thr693=)
6	g.100390586A>C	CA451586198	SIM1	c.2076T>G (p.Pro692=)
6	g.100390586A>G	CA451586200	SIM1	c.2076T>C (p.Pro692=)
6	g.100390586A>T	CA451586201	SIM1	c.2076T>A (p.Pro692=)
6	g.100390587G>A	CA3936884	SIM1	c.2075C>T (p.Pro692Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390587G>C	CA365297712	SIM1	c.2075C>G (p.Pro692Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.100390587G=	CA1650583944	SIM1	c.2075C= (p.Pro692=)
6	g.100390587G>T	CA365297713	SIM1	c.2075C>A (p.Pro692His)
6	g.100390588G>A	CA365297714	SIM1	c.2074C>T (p.Pro692Ser)	dbSNP
6	g.100390588G>C	CA365297715	SIM1	c.2074C>G (p.Pro692Ala)
6	g.100390588G=	CA1650583945	SIM1	c.2074C= (p.Pro692=)
6	g.100390588G>T	CA365297716	SIM1	c.2074C>A (p.Pro692Thr)
6	g.100390589G>A	CA451586206	SIM1	c.2073C>T (p.His691=)	dbSNP gnomAD v3 gnomAD v4
6	g.100390589G>C	CA3936885	SIM1	c.2073C>G (p.His691Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390589G=	CA1650583946	SIM1	c.2073C= (p.His691=)
6	g.100390589G>T	CA365297717	SIM1	c.2073C>A (p.His691Gln)
6	g.100390590T>A	CA365297718	SIM1	c.2072A>T (p.His691Leu)
6	g.100390590T>C	CA365297719	SIM1	c.2072A>G (p.His691Arg)
6	g.100390590T>G	CA365297720	SIM1	c.2072A>C (p.His691Pro)
6	g.100390591G>A	CA365297722	SIM1	c.2071C>T (p.His691Tyr)	dbSNP gnomAD v3 gnomAD v4 COSMIC
6	g.100390591G>C	CA365297723	SIM1	c.2071C>G (p.His691Asp)
6	g.100390591G=	CA1650583947	SIM1	c.2071C= (p.His691=)
6	g.100390591G>T	CA365297721	SIM1	c.2071C>A (p.His691Asn)
6	g.100390592G>A	CA451586211	SIM1	c.2070C>T (p.Asp690=)	gnomAD v4
6	g.100390592G>C	CA365297724	SIM1	c.2070C>G (p.Asp690Glu)
6	g.100390592G>T	CA365297725	SIM1	c.2070C>A (p.Asp690Glu)
6	g.100390593T>A	CA144530190	SIM1	c.2069A>T (p.Asp690Val)	dbSNP
6	g.100390593T>C	CA144530191	SIM1	c.2069A>G (p.Asp690Gly)	dbSNP
6	g.100390593T>G	CA365297726	SIM1	c.2069A>C (p.Asp690Ala)
6	g.100390593T=	CA1650583948	SIM1	c.2069A= (p.Asp690=)
6	g.100390594C>A	CA365297727	SIM1	c.2068G>T (p.Asp690Tyr)	gnomAD v4
6	g.100390594C=	CA1650583949	SIM1	c.2068G= (p.Asp690=)
6	g.100390594C>G	CA365297728	SIM1	c.2068G>C (p.Asp690His)
6	g.100390594C>T	CA3936886	SIM1	c.2068G>A (p.Asp690Asn)	dbSNP ExAC gnomAD v3 gnomAD v4
6	g.100390595T>A	CA451586219	SIM1	c.2067A>T (p.Gly689=)
6	g.100390595T>C	CA451586220	SIM1	c.2067A>G (p.Gly689=)
6	g.100390595T>G	CA451586222	SIM1	c.2067A>C (p.Gly689=)
6	g.100390596C>A	CA365297729	SIM1	c.2066G>T (p.Gly689Val)
6	g.100390596C>G	CA365297730	SIM1	c.2066G>C (p.Gly689Ala)
6	g.100390596C>T	CA365297731	SIM1	c.2066G>A (p.Gly689Glu)
6	g.100390597C>A	CA365297732	SIM1	c.2065G>T (p.Gly689Ter)
6	g.100390597C=	CA1650583950	SIM1	c.2065G= (p.Gly689=)
6	g.100390597C>G	CA365297733	SIM1	c.2065G>C (p.Gly689Arg)
6	g.100390597C>T	CA365297734	SIM1	c.2065G>A (p.Gly689Arg)	dbSNP gnomAD v2 gnomAD v4
6	g.100390597_100390598delinsCT	CA1650583951	SIM1	c.2064_2065delinsAG (p.Ala688=)
6	g.100390600_100390602del	CA2772349497	SIM1	c.2063_2065del (p.Ala688del)
6	g.100390598del	CA3936887	SIM1	c.2064del (p.Gly689GlufsTer25)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390598T>A	CA451586229	SIM1	c.2064A>T (p.Ala688=)
6	g.100390598T>C	CA451586228	SIM1	c.2064A>G (p.Ala688=)
6	g.100390598T>G	CA451586230	SIM1	c.2064A>C (p.Ala688=)
6	g.100390599G>A	CA3936888	SIM1	c.2063C>T (p.Ala688Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390599G>C	CA365297735	SIM1	c.2063C>G (p.Ala688Gly)	gnomAD v4
6	g.100390599G=	CA1650583952	SIM1	c.2063C= (p.Ala688=)
6	g.100390599G>T	CA365297736	SIM1	c.2063C>A (p.Ala688Glu)
6	g.100390600C>A	CA365297738	SIM1	c.2062G>T (p.Ala688Ser)
6	g.100390600C=	CA1650583953	SIM1	c.2062G= (p.Ala688=)
6	g.100390600C>G	CA365297737	SIM1	c.2062G>C (p.Ala688Pro)
6	g.100390600C>T	CA3936889	SIM1	c.2062G>A (p.Ala688Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390601T>A	CA451586232	SIM1	c.2061A>T (p.Thr687=)	gnomAD v4
6	g.100390601T>C	CA451586234	SIM1	c.2061A>G (p.Thr687=)
6	g.100390601T>G	CA451586233	SIM1	c.2061A>C (p.Thr687=)
6	g.100390602G>A	CA365297739	SIM1	c.2060C>T (p.Thr687Ile)	dbSNP gnomAD v2 gnomAD v4
6	g.100390602G>C	CA365297740	SIM1	c.2060C>G (p.Thr687Arg)
6	g.100390602G=	CA1650583954	SIM1	c.2060C= (p.Thr687=)
6	g.100390602G>T	CA365297741	SIM1	c.2060C>A (p.Thr687Lys)
6	g.100390603del	CA2679791236	SIM1	c.2059del (p.Thr687GlnfsTer27)	gnomAD v4
6	g.100390603T>A	CA365297742	SIM1	c.2059A>T (p.Thr687Ser)
6	g.100390603T>C	CA365297743	SIM1	c.2059A>G (p.Thr687Ala)
6	g.100390603T>G	CA365297744	SIM1	c.2059A>C (p.Thr687Pro)
6	g.100390604C>A	CA365297745	SIM1	c.2058G>T (p.Gln686His)
6	g.100390604C>G	CA365297746	SIM1	c.2058G>C (p.Gln686His)
6	g.100390604C>T	CA451585957	SIM1	c.2058G>A (p.Gln686=)
6	g.100390605T>A	CA365297747	SIM1	c.2057A>T (p.Gln686Leu)
6	g.100390605T>C	CA365297748	SIM1	c.2057A>G (p.Gln686Arg)
6	g.100390605T>G	CA365297749	SIM1	c.2057A>C (p.Gln686Pro)
6	g.100390606G>A	CA365297751	SIM1	c.2056C>T (p.Gln686Ter)
6	g.100390606G>C	CA365297752	SIM1	c.2056C>G (p.Gln686Glu)
6	g.100390606G>T	CA365297750	SIM1	c.2056C>A (p.Gln686Lys)
6	g.100390607A>C	CA365297753	SIM1	c.2055T>G (p.His685Gln)
6	g.100390607A>G	CA451585958	SIM1	c.2055T>C (p.His685=)
6	g.100390607A>T	CA365297754	SIM1	c.2055T>A (p.His685Gln)
6	g.100390608T>A	CA365297755	SIM1	c.2054A>T (p.His685Leu)
6	g.100390608T>C	CA365297756	SIM1	c.2054A>G (p.His685Arg)	COSMIC
6	g.100390608T>G	CA365297757	SIM1	c.2054A>C (p.His685Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.100390608T=	CA1650583955	SIM1	c.2054A= (p.His685=)
6	g.100390609G>A	CA365297758	SIM1	c.2053C>T (p.His685Tyr)
6	g.100390609G>C	CA365297759	SIM1	c.2053C>G (p.His685Asp)
6	g.100390609G>T	CA365297760	SIM1	c.2053C>A (p.His685Asn)
6	g.100390612_100390614del	CA2679791237	SIM1	c.2051_2053del (p.Pro684del)	gnomAD v4
6	g.100390610A=	CA1650583956	SIM1	c.2052T= (p.Pro684=)
6	g.100390610A>C	CA451585959	SIM1	c.2052T>G (p.Pro684=)
6	g.100390610A>G	CA451585960	SIM1	c.2052T>C (p.Pro684=)
6	g.100390610A>T	CA3936890	SIM1	c.2052T>A (p.Pro684=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390611G>A	CA365297761	SIM1	c.2051C>T (p.Pro684Leu)
6	g.100390611G>C	CA365297762	SIM1	c.2051C>G (p.Pro684Arg)
6	g.100390611G>T	CA365297763	SIM1	c.2051C>A (p.Pro684His)
6	g.100390612G>A	CA365297766	SIM1	c.2050C>T (p.Pro684Ser)
6	g.100390612G>C	CA365297764	SIM1	c.2050C>G (p.Pro684Ala)
6	g.100390612G>T	CA365297765	SIM1	c.2050C>A (p.Pro684Thr)
6	g.100390613A=	CA1650583957	SIM1	c.2049T= (p.Ser683=)
6	g.100390613A>C	CA451585961	SIM1	c.2049T>G (p.Ser683=)
6	g.100390613A>G	CA451585963	SIM1	c.2049T>C (p.Ser683=)	dbSNP gnomAD v4
6	g.100390613A>T	CA451585962	SIM1	c.2049T>A (p.Ser683=)
6	g.100390614G>A	CA365297767	SIM1	c.2048C>T (p.Ser683Phe)
6	g.100390614G>C	CA365297768	SIM1	c.2048C>G (p.Ser683Cys)
6	g.100390614G>T	CA365297769	SIM1	c.2048C>A (p.Ser683Tyr)
6	g.100390615A>C	CA365297770	SIM1	c.2047T>G (p.Ser683Ala)
6	g.100390615A>G	CA365297771	SIM1	c.2047T>C (p.Ser683Pro)
6	g.100390615A>T	CA365297772	SIM1	c.2047T>A (p.Ser683Thr)
6	g.100390616T>A	CA451585964	SIM1	c.2046A>T (p.Ile682=)
6	g.100390616T>C	CA365297773	SIM1	c.2046A>G (p.Ile682Met)	COSMIC
6	g.100390616T>G	CA451585965	SIM1	c.2046A>C (p.Ile682=)
6	g.100390617A>C	CA365297774	SIM1	c.2045T>G (p.Ile682Arg)
6	g.100390617A>G	CA365297775	SIM1	c.2045T>C (p.Ile682Thr)
6	g.100390617A>T	CA365297776	SIM1	c.2045T>A (p.Ile682Lys)
6	g.100390618T>A	CA365297777	SIM1	c.2044A>T (p.Ile682Leu)
6	g.100390618T>C	CA3936891	SIM1	c.2044A>G (p.Ile682Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390618T>G	CA365297778	SIM1	c.2044A>C (p.Ile682Leu)	gnomAD v4
6	g.100390618T=	CA1650583958	SIM1	c.2044A= (p.Ile682=)
6	g.100390619A>C	CA365297780	SIM1	c.2043T>G (p.Asp681Glu)
6	g.100390619A>G	CA451585966	SIM1	c.2043T>C (p.Asp681=)
6	g.100390619A>T	CA365297779	SIM1	c.2043T>A (p.Asp681Glu)
6	g.100390620T>A	CA365297781	SIM1	c.2042A>T (p.Asp681Val)	dbSNP gnomAD v2 gnomAD v4
6	g.100390620T>C	CA365297782	SIM1	c.2042A>G (p.Asp681Gly)
6	g.100390620T>G	CA365297783	SIM1	c.2042A>C (p.Asp681Ala)
6	g.100390620T=	CA1650583959	SIM1	c.2042A= (p.Asp681=)
6	g.100390621C>A	CA365297784	SIM1	c.2041G>T (p.Asp681Tyr)	dbSNP gnomAD v2 gnomAD v4
6	g.100390621C=	CA1650583960	SIM1	c.2041G= (p.Asp681=)
6	g.100390621C>G	CA144530192	SIM1	c.2041G>C (p.Asp681His)	dbSNP gnomAD v4
6	g.100390621C>T	CA365297785	SIM1	c.2041G>A (p.Asp681Asn)
6	g.100390622C>A	CA451585967	SIM1	c.2040G>T (p.Ser680=)
6	g.100390622C=	CA1650583961	SIM1	c.2040G= (p.Ser680=)
6	g.100390622C>G	CA451585968	SIM1	c.2040G>C (p.Ser680=)
6	g.100390622C>T	CA3936892	SIM1	c.2040G>A (p.Ser680=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390623G>A	CA3936895	SIM1	c.2039C>T (p.Ser680Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.100390623G>C	CA3936893	SIM1	c.2039C>G (p.Ser680Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.100390623G=	CA1650583962	SIM1	c.2039C= (p.Ser680=)
6	g.100390623G>T	CA3936894	SIM1	c.2039C>A (p.Ser680Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.100390624A=	CA1650583963	SIM1	c.2038T= (p.Ser680=)
6	g.100390624A>C	CA365297786	SIM1	c.2038T>G (p.Ser680Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.100390624A>G	CA365297787	SIM1	c.2038T>C (p.Ser680Pro)
6	g.100390624A>T	CA365297788	SIM1	c.2038T>A (p.Ser680Thr)	gnomAD v4
6	g.100390625A>C	CA365297789	SIM1	c.2037T>G (p.His679Gln)
6	g.100390625A>G	CA451585969	SIM1	c.2037T>C (p.His679=)
6	g.100390625A>T	CA365297790	SIM1	c.2037T>A (p.His679Gln)
6	g.100390626T>A	CA365297793	SIM1	c.2036A>T (p.His679Leu)
6	g.100390626T>C	CA365297791	SIM1	c.2036A>G (p.His679Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.100390626T>G	CA365297792	SIM1	c.2036A>C (p.His679Pro)
6	g.100390626T=	CA1650583964	SIM1	c.2036A= (p.His679=)
6	g.100390627G>A	CA365297794	SIM1	c.2035C>T (p.His679Tyr)
6	g.100390627G>C	CA365297795	SIM1	c.2035C>G (p.His679Asp)
6	g.100390627G>T	CA365297796	SIM1	c.2035C>A (p.His679Asn)
6	g.100390628C>A	CA451585970	SIM1	c.2034G>T (p.Leu678=)
6	g.100390628C>G	CA451585971	SIM1	c.2034G>C (p.Leu678=)
6	g.100390628C>T	CA451585972	SIM1	c.2034G>A (p.Leu678=)
6	g.100390629A>C	CA365297797	SIM1	c.2033T>G (p.Leu678Arg)
6	g.100390629A>G	CA365297798	SIM1	c.2033T>C (p.Leu678Pro)
6	g.100390629A>T	CA365297799	SIM1	c.2033T>A (p.Leu678Gln)
6	g.100390630G>A	CA451585973	SIM1	c.2032C>T (p.Leu678=)
6	g.100390630G>C	CA365297800	SIM1	c.2032C>G (p.Leu678Val)	dbSNP gnomAD v2 gnomAD v4
6	g.100390630G=	CA1650583965	SIM1	c.2032C= (p.Leu678=)
6	g.100390630G>T	CA365297801	SIM1	c.2032C>A (p.Leu678Met)
6	g.100390631A>C	CA365297802	SIM1	c.2031T>G (p.Tyr677Ter)
6	g.100390631A>G	CA451585974	SIM1	c.2031T>C (p.Tyr677=)
6	g.100390631A>T	CA365297803	SIM1	c.2031T>A (p.Tyr677Ter)
6	g.100390632T>A	CA365297804	SIM1	c.2030A>T (p.Tyr677Phe)
6	g.100390632T>C	CA144530193	SIM1	c.2030A>G (p.Tyr677Cys)	dbSNP gnomAD v4
6	g.100390632T>G	CA365297805	SIM1	c.2030A>C (p.Tyr677Ser)
6	g.100390632T=	CA1650583966	SIM1	c.2030A= (p.Tyr677=)
6	g.100390633A=	CA1650583967	SIM1	c.2029T= (p.Tyr677=)
6	g.100390633A>C	CA365297806	SIM1	c.2029T>G (p.Tyr677Asp)
6	g.100390633A>G	CA365297808	SIM1	c.2029T>C (p.Tyr677His)	dbSNP gnomAD v3 gnomAD v4
6	g.100390633A>T	CA365297807	SIM1	c.2029T>A (p.Tyr677Asn)
6	g.100390634G>A	CA451585975	SIM1	c.2028C>T (p.Asp676=)
6	g.100390634G>C	CA365297809	SIM1	c.2028C>G (p.Asp676Glu)
6	g.100390634G>T	CA365297810	SIM1	c.2028C>A (p.Asp676Glu)
6	g.100390635T>A	CA365297811	SIM1	c.2027A>T (p.Asp676Val)	COSMIC
6	g.100390635T>C	CA365297812	SIM1	c.2027A>G (p.Asp676Gly)	dbSNP gnomAD v4
6	g.100390635T>G	CA365297813	SIM1	c.2027A>C (p.Asp676Ala)
6	g.100390635T=	CA1650583968	SIM1	c.2027A= (p.Asp676=)
6	g.100390636C>A	CA365297814	SIM1	c.2026G>T (p.Asp676Tyr)
6	g.100390636C>G	CA365297815	SIM1	c.2026G>C (p.Asp676His)
6	g.100390636C>T	CA365297816	SIM1	c.2026G>A (p.Asp676Asn)
6	g.100390637T>A	CA365297817	SIM1	c.2025A>T (p.Lys675Asn)
6	g.100390637T>C	CA451585976	SIM1	c.2025A>G (p.Lys675=)	gnomAD v4
6	g.100390637T>G	CA365297818	SIM1	c.2025A>C (p.Lys675Asn)
6	g.100390639del	CA2566970170	SIM1	c.2025del (p.Asp676ThrfsTer?)
6	g.100390638T>A	CA365297819	SIM1	c.2024A>T (p.Lys675Ile)
6	g.100390638T>C	CA365297820	SIM1	c.2024A>G (p.Lys675Arg)
6	g.100390638T>G	CA365297821	SIM1	c.2024A>C (p.Lys675Thr)
6	g.100390639T>A	CA365297824	SIM1	c.2023A>T (p.Lys675Ter)
6	g.100390639T>C	CA365297822	SIM1	c.2023A>G (p.Lys675Glu)	dbSNP gnomAD v4
6	g.100390639T>G	CA365297823	SIM1	c.2023A>C (p.Lys675Gln)
6	g.100390640A=	CA1650583969	SIM1	c.2022T= (p.Ala674=)
6	g.100390640A>C	CA3936896	SIM1	c.2022T>G (p.Ala674=)	dbSNP ExAC gnomAD v2
6	g.100390640A>G	CA451585977	SIM1	c.2022T>C (p.Ala674=)
6	g.100390640A>T	CA451585978	SIM1	c.2022T>A (p.Ala674=)
6	g.100390641G>A	CA365297825	SIM1	c.2021C>T (p.Ala674Val)	COSMIC
6	g.100390641G>C	CA365297826	SIM1	c.2021C>G (p.Ala674Gly)
6	g.100390641G=	CA1650583970	SIM1	c.2021C= (p.Ala674=)
6	g.100390641G>T	CA365297827	SIM1	c.2021C>A (p.Ala674Asp)	dbSNP gnomAD v3 gnomAD v4
6	g.100390642C>A	CA365297828	SIM1	c.2020G>T (p.Ala674Ser)
6	g.100390642C>G	CA365297829	SIM1	c.2020G>C (p.Ala674Pro)
6	g.100390642C>T	CA365297830	SIM1	c.2020G>A (p.Ala674Thr)	gnomAD v4
6	g.100390643T>A	CA451585980	SIM1	c.2019A>T (p.Leu673=)
6	g.100390643T>C	CA451585981	SIM1	c.2019A>G (p.Leu673=)	dbSNP gnomAD v3 gnomAD v4
6	g.100390643T>G	CA451585979	SIM1	c.2019A>C (p.Leu673=)	gnomAD v4
6	g.100390643T=	CA1650583971	SIM1	c.2019A= (p.Leu673=)
6	g.100390643_100390646delinsTAGG	CA1650583972	SIM1	c.2016_2019delinsCCTA (p.Ile672=)
6	g.100390644A>C	CA365297831	SIM1	c.2018T>G (p.Leu673Arg)
6	g.100390644A>G	CA365297832	SIM1	c.2018T>C (p.Leu673Pro)
6	g.100390644A>T	CA365297833	SIM1	c.2018T>A (p.Leu673Gln)
6	g.100390645_100390647del	CA1092405141	SIM1	c.2016_2018del (p.Leu673del)	dbSNP gnomAD v4
6	g.100390645G>A	CA451585982	SIM1	c.2017C>T (p.Leu673=)
6	g.100390645G>C	CA365297834	SIM1	c.2017C>G (p.Leu673Val)
6	g.100390645G>T	CA365297835	SIM1	c.2017C>A (p.Leu673Ile)	gnomAD v4

Number of alleles fetched