Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.68685628C>A	CA16042207	GAL	c.116C>A (p.Ala39Glu) n.230+2213G>T	ClinVar dbSNP
11	g.68685628C>G	CA381632879	GAL	c.116C>G (p.Ala39Gly) n.230+2213G>C
11	g.68685628C>T	CA381632880	GAL	c.116C>T (p.Ala39Val) n.230+2213G>A	dbSNP gnomAD v3 gnomAD v4
11	g.68685629G>A	CA6151436	GAL	c.117G>A (p.Ala39=) n.230+2212C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68685629G>C	CA475195712	GAL	c.117G>C (p.Ala39=) n.230+2212C>G	dbSNP gnomAD v3 gnomAD v4
11	g.68685629G>T	CA475195714	GAL	c.117G>T (p.Ala39=) n.230+2212C>A	gnomAD v4
11	g.68685630G>A	CA381632881	GAL	c.118G>A (p.Gly40Ser) n.230+2211C>T	dbSNP gnomAD v2 gnomAD v4
11	g.68685630G>C	CA381632882	GAL	c.118G>C (p.Gly40Arg) n.230+2211C>G
11	g.68685630G>T	CA381632883	GAL	c.118G>T (p.Gly40Cys) n.230+2211C>A
11	g.68685631G>A	CA381632884	GAL	c.119G>A (p.Gly40Asp) n.230+2210C>T	gnomAD v4
11	g.68685631G>C	CA381632885	GAL	c.119G>C (p.Gly40Ala) n.230+2210C>G
11	g.68685631G>T	CA381632886	GAL	c.119G>T (p.Gly40Val) n.230+2210C>A	COSMIC
11	g.68685632del	CA939139497	GAL	c.120del (p.Tyr41ThrfsTer?) n.230+2209del	dbSNP gnomAD v3 gnomAD v4
11	g.68685632C>A	CA475195726	GAL	c.120C>A (p.Gly40=) n.230+2209G>T
11	g.68685632C>G	CA475195728	GAL	c.120C>G (p.Gly40=) n.230+2209G>C	dbSNP gnomAD v4
11	g.68685632C>T	CA223413968	GAL	c.120C>T (p.Gly40=) n.230+2209G>A	dbSNP gnomAD v2 gnomAD v4
11	g.68685633T>A	CA381632887	GAL	c.121T>A (p.Tyr41Asn) n.230+2208A>T
11	g.68685633T>C	CA381632888	GAL	c.121T>C (p.Tyr41His) n.230+2208A>G
11	g.68685633T>G	CA381632889	GAL	c.121T>G (p.Tyr41Asp) n.230+2208A>C
11	g.68685634A>C	CA381632891	GAL	c.122A>C (p.Tyr41Ser) n.230+2207T>G
11	g.68685634A>G	CA381632892	GAL	c.122A>G (p.Tyr41Cys) n.230+2207T>C	dbSNP
11	g.68685634A>T	CA381632890	GAL	c.122A>T (p.Tyr41Phe) n.230+2207T>A	gnomAD v4
11	g.68685635C>A	CA381632894	GAL	c.123C>A (p.Tyr41Ter) n.230+2206G>T	gnomAD v4
11	g.68685635C>G	CA381632893	GAL	c.123C>G (p.Tyr41Ter) n.230+2206G>C
11	g.68685635C>T	CA475195743	GAL	c.123C>T (p.Tyr41=) n.230+2206G>A	gnomAD v4
11	g.68685636C>A	CA381632895	GAL	c.124C>A (p.Leu42Met) n.230+2205G>T
11	g.68685636C>G	CA381632896	GAL	c.124C>G (p.Leu42Val) n.230+2205G>C
11	g.68685636C>T	CA6151437	GAL	c.124C>T (p.Leu42=) n.230+2205G>A	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.68685637T>A	CA381632897	GAL	c.125T>A (p.Leu42Gln) n.230+2204A>T
11	g.68685637T>C	CA381632898	GAL	c.125T>C (p.Leu42Pro) n.230+2204A>G
11	g.68685637T>G	CA381632899	GAL	c.125T>G (p.Leu42Arg) n.230+2204A>C
11	g.68685638G>A	CA475195756	GAL	c.126G>A (p.Leu42=) n.230+2203C>T
11	g.68685638G>C	CA475195757	GAL	c.126G>C (p.Leu42=) n.230+2203C>G
11	g.68685638G>T	CA475195759	GAL	c.126G>T (p.Leu42=) n.230+2203C>A
11	g.68685639C>A	CA381632901	GAL	c.127C>A (p.Leu43Met) n.230+2202G>T
11	g.68685639C>G	CA381632900	GAL	c.127C>G (p.Leu43Val) n.230+2202G>C
11	g.68685639C>T	CA475195762	GAL	c.127C>T (p.Leu43=) n.230+2202G>A	dbSNP
11	g.68685640T>A	CA381632902	GAL	c.128T>A (p.Leu43Gln) n.230+2201A>T
11	g.68685640T>C	CA381632903	GAL	c.128T>C (p.Leu43Pro) n.230+2201A>G	COSMIC
11	g.68685640T>G	CA381632904	GAL	c.128T>G (p.Leu43Arg) n.230+2201A>C
11	g.68685641G>A	CA475195770	GAL	c.129G>A (p.Leu43=) n.230+2200C>T
11	g.68685641G>C	CA475195773	GAL	c.129G>C (p.Leu43=) n.230+2200C>G
11	g.68685641G>T	CA475195776	GAL	c.129G>T (p.Leu43=) n.230+2200C>A
11	g.68685642_68685649del	CA2614727967	GAL	c.130_136+1del n.230+2193_230+2200del	gnomAD v4
11	g.68685642G>A	CA381632905	GAL	c.130G>A (p.Gly44Ser) n.230+2199C>T
11	g.68685642G>C	CA381632906	GAL	c.130G>C (p.Gly44Arg) n.230+2199C>G
11	g.68685642G>T	CA381632907	GAL	c.130G>T (p.Gly44Cys) n.230+2199C>A	dbSNP gnomAD v2 gnomAD v4
11	g.68685643G>A	CA223414025	GAL	c.131G>A (p.Gly44Asp) n.230+2198C>T	dbSNP gnomAD v2 gnomAD v4
11	g.68685643G>C	CA6151438	GAL	c.131G>C (p.Gly44Ala) n.230+2198C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.68685643G>T	CA381632908	GAL	c.131G>T (p.Gly44Val) n.230+2198C>A

Number of alleles fetched