Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.218814697_218814704del	CA2586971287	CYP27A1	c.1416_1423del (p.Val473LeufsTer?) n.2128_2135del c.996_1003del (p.Val333LeufsTer?)	ClinVar gnomAD v4
2	g.218814700_218814701dup	CA2663168360	CYP27A1	c.1419_1420dup (p.Arg474ProfsTer21) n.2131_2132dup c.999_1000dup (p.Arg334ProfsTer21)	gnomAD v4
2	g.218814701C>A	CA431414630	CYP27A1	c.1420C>A (p.Arg474=) n.2132C>A c.1000C>A (p.Arg334=)
2	g.218814701C=	CA1328929847	CYP27A1	c.1420C= (p.Arg474=) n.2132C= c.1000C= (p.Arg334=)
2	g.218814701C>G	CA350595106	CYP27A1	c.1420C>G (p.Arg474Gly) n.2132C>G c.1000C>G (p.Arg334Gly)
2	g.218814701C>T	CA340215	CYP27A1	c.1420C>T (p.Arg474Trp) n.2132C>T c.1000C>T (p.Arg334Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814702G>A	CA340214	CYP27A1	c.1421G>A (p.Arg474Gln) n.2133G>A c.1001G>A (p.Arg334Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.218814702G>C	CA350595116	CYP27A1	c.1421G>C (p.Arg474Pro) n.2133G>C c.1001G>C (p.Arg334Pro)	ClinVar gnomAD v4
2	g.218814702G=	CA1328929848	CYP27A1	c.1421G= (p.Arg474=) n.2133G= c.1001G= (p.Arg334=)
2	g.218814702G>T	CA350595119	CYP27A1	c.1421G>T (p.Arg474Leu) n.2133G>T c.1001G>T (p.Arg334Leu)
2	g.218814703G>A	CA431414642	CYP27A1	c.1422G>A (p.Arg474=) n.2134G>A c.1002G>A (p.Arg334=)	ClinVar
2	g.218814703G>C	CA431414639	CYP27A1	c.1422G>C (p.Arg474=) n.2134G>C c.1002G>C (p.Arg334=)
2	g.218814703G>T	CA431414638	CYP27A1	c.1422G>T (p.Arg474=) n.2134G>T c.1002G>T (p.Arg334=)
2	g.218814704G>A	CA350595122	CYP27A1	c.1423G>A (p.Ala475Thr) n.2135G>A c.1003G>A (p.Ala335Thr)	gnomAD v4
2	g.218814704G>C	CA350595128	CYP27A1	c.1423G>C (p.Ala475Pro) n.2135G>C c.1003G>C (p.Ala335Pro)
2	g.218814704G>T	CA350595121	CYP27A1	c.1423G>T (p.Ala475Ser) n.2135G>T c.1003G>T (p.Ala335Ser)
2	g.218814705C>A	CA350595146	CYP27A1	c.1424C>A (p.Ala475Asp) n.2136C>A c.1004C>A (p.Ala335Asp)
2	g.218814705C>G	CA350595152	CYP27A1	c.1424C>G (p.Ala475Gly) n.2136C>G c.1004C>G (p.Ala335Gly)
2	g.218814705C>T	CA350595155	CYP27A1	c.1424C>T (p.Ala475Val) n.2136C>T c.1004C>T (p.Ala335Val)
2	g.218814706C>A	CA431414651	CYP27A1	c.1425C>A (p.Ala475=) n.2137C>A c.1005C>A (p.Ala335=)	ClinVar dbSNP gnomAD v4
2	g.218814706C=	CA1328929849	CYP27A1	c.1425C= (p.Ala475=) n.2137C= c.1005C= (p.Ala335=)
2	g.218814706C>G	CA431414652	CYP27A1	c.1425C>G (p.Ala475=) n.2137C>G c.1005C>G (p.Ala335=)
2	g.218814706C>T	CA65835432	CYP27A1	c.1425C>T (p.Ala475=) n.2137C>T c.1005C>T (p.Ala335=)	ClinVar dbSNP gnomAD v4
2	g.218814707T>A	CA350595164	CYP27A1	c.1426T>A (p.Cys476Ser) n.2138T>A c.1006T>A (p.Cys336Ser)
2	g.218814707T>C	CA350595166	CYP27A1	c.1426T>C (p.Cys476Arg) n.2138T>C c.1006T>C (p.Cys336Arg)
2	g.218814707T>G	CA350595176	CYP27A1	c.1426T>G (p.Cys476Gly) n.2138T>G c.1006T>G (p.Cys336Gly)
2	g.218814707_218814708del	CA913089889	CYP27A1	c.1426_1427del (p.Cys476ProfsTer?) n.2138_2139del c.1006_1007del (p.Cys336ProfsTer?)
2	g.218814707_218814708delinsTG	CA1328929850	CYP27A1	c.1426_1427delinsTG (p.Cys476=) n.2138_2139delinsTG c.1006_1007delinsTG (p.Cys336=)
2	g.218814708del	CA658821509	CYP27A1	c.1427del (p.Cys476SerfsTer18) n.2139del c.1007del (p.Cys336SerfsTer18)	ClinVar dbSNP
2	g.218814708G>A	CA350595186	CYP27A1	c.1427G>A (p.Cys476Tyr) n.2139G>A c.1007G>A (p.Cys336Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.218814708G>C	CA350595190	CYP27A1	c.1427G>C (p.Cys476Ser) n.2139G>C c.1007G>C (p.Cys336Ser)
2	g.218814708G=	CA1328929851	CYP27A1	c.1427G= (p.Cys476=) n.2139G= c.1007G= (p.Cys336=)
2	g.218814708G>T	CA350595189	CYP27A1	c.1427G>T (p.Cys476Phe) n.2139G>T c.1007G>T (p.Cys336Phe)
2	g.218814709C>A	CA350595191	CYP27A1	c.1428C>A (p.Cys476Ter) n.2140C>A c.1008C>A (p.Cys336Ter)
2	g.218814709C>G	CA350595194	CYP27A1	c.1428C>G (p.Cys476Trp) n.2140C>G c.1008C>G (p.Cys336Trp)
2	g.218814709C>T	CA431414659	CYP27A1	c.1428C>T (p.Cys476=) n.2140C>T c.1008C>T (p.Cys336=)
2	g.218814710C>A	CA350595197	CYP27A1	c.1429C>A (p.Leu477Met) n.2141C>A c.1009C>A (p.Leu337Met)
2	g.218814710C>G	CA350595201	CYP27A1	c.1429C>G (p.Leu477Val) n.2141C>G c.1009C>G (p.Leu337Val)
2	g.218814710C>T	CA431414661	CYP27A1	c.1429C>T (p.Leu477=) n.2141C>T c.1009C>T (p.Leu337=)
2	g.218814711T>A	CA350595222	CYP27A1	c.1430T>A (p.Leu477Gln) n.2142T>A c.1010T>A (p.Leu337Gln)
2	g.218814711T>C	CA350595217	CYP27A1	c.1430T>C (p.Leu477Pro) n.2142T>C c.1010T>C (p.Leu337Pro)
2	g.218814711T>G	CA350595210	CYP27A1	c.1430T>G (p.Leu477Arg) n.2142T>G c.1010T>G (p.Leu337Arg)
2	g.218814712G>A	CA431414666	CYP27A1	c.1431G>A (p.Leu477=) n.2143G>A c.1011G>A (p.Leu337=)	dbSNP
2	g.218814712G>C	CA431414667	CYP27A1	c.1431G>C (p.Leu477=) n.2143G>C c.1011G>C (p.Leu337=)
2	g.218814712G>T	CA431414668	CYP27A1	c.1431G>T (p.Leu477=) n.2143G>T c.1011G>T (p.Leu337=)
2	g.218814713G>A	CA350595225	CYP27A1	c.1432G>A (p.Gly478Ser) n.2144G>A c.1012G>A (p.Gly338Ser)	ClinVar
2	g.218814713G>C	CA350595230	CYP27A1	c.1432G>C (p.Gly478Arg) n.2144G>C c.1012G>C (p.Gly338Arg)
2	g.218814713G=	CA1328929852	CYP27A1	c.1432G= (p.Gly478=) n.2144G= c.1012G= (p.Gly338=)
2	g.218814713G>T	CA350595226	CYP27A1	c.1432G>T (p.Gly478Cys) n.2144G>T c.1012G>T (p.Gly338Cys)	dbSNP
2	g.218814714G>A	CA350595238	CYP27A1	c.1433G>A (p.Gly478Asp) n.2145G>A c.1013G>A (p.Gly338Asp)

Number of alleles fetched