Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.218814601G>A	CA431414303	CYP27A1	c.1320G>A (p.Glu440=) n.2032G>A c.900G>A (p.Glu300=)	ClinVar
2	g.218814601G>C	CA350594136	CYP27A1	c.1320G>C (p.Glu440Asp) n.2032G>C c.900G>C (p.Glu300Asp)
2	g.218814601G>T	CA350594137	CYP27A1	c.1320G>T (p.Glu440Asp) n.2032G>T c.900G>T (p.Glu300Asp)
2	g.218814602C>A	CA350594138	CYP27A1	c.1321C>A (p.Pro441Thr) n.2033C>A c.901C>A (p.Pro301Thr)
2	g.218814602C>G	CA350594139	CYP27A1	c.1321C>G (p.Pro441Ala) n.2033C>G c.901C>G (p.Pro301Ala)
2	g.218814602C>T	CA350594141	CYP27A1	c.1321C>T (p.Pro441Ser) n.2033C>T c.901C>T (p.Pro301Ser)	gnomAD v4 COSMIC
2	g.218814603C>A	CA350594147	CYP27A1	c.1322C>A (p.Pro441His) n.2034C>A c.902C>A (p.Pro301His)
2	g.218814603C>G	CA350594145	CYP27A1	c.1322C>G (p.Pro441Arg) n.2034C>G c.902C>G (p.Pro301Arg)
2	g.218814603C>T	CA350594144	CYP27A1	c.1322C>T (p.Pro441Leu) n.2034C>T c.902C>T (p.Pro301Leu)
2	g.218814604T>A	CA431414308	CYP27A1	c.1323T>A (p.Pro441=) n.2035T>A c.903T>A (p.Pro301=)
2	g.218814604T>C	CA431414310	CYP27A1	c.1323T>C (p.Pro441=) n.2035T>C c.903T>C (p.Pro301=)	ClinVar dbSNP gnomAD v4
2	g.218814604T>G	CA431414313	CYP27A1	c.1323T>G (p.Pro441=) n.2035T>G c.903T>G (p.Pro301=)
2	g.218814605G>A	CA350594149	CYP27A1	c.1324G>A (p.Glu442Lys) n.2036G>A c.904G>A (p.Glu302Lys)
2	g.218814605G>C	CA350594153	CYP27A1	c.1324G>C (p.Glu442Gln) n.2036G>C c.904G>C (p.Glu302Gln)
2	g.218814605G>T	CA350594151	CYP27A1	c.1324G>T (p.Glu442Ter) n.2036G>T c.904G>T (p.Glu302Ter)
2	g.218814606A>C	CA350594155	CYP27A1	c.1325A>C (p.Glu442Ala) n.2037A>C c.905A>C (p.Glu302Ala)
2	g.218814606A>G	CA350594160	CYP27A1	c.1325A>G (p.Glu442Gly) n.2037A>G c.905A>G (p.Glu302Gly)
2	g.218814606A>T	CA350594157	CYP27A1	c.1325A>T (p.Glu442Val) n.2037A>T c.905A>T (p.Glu302Val)
2	g.218814607A>C	CA350594164	CYP27A1	c.1326A>C (p.Glu442Asp) n.2038A>C c.906A>C (p.Glu302Asp)
2	g.218814607A>G	CA431414328	CYP27A1	c.1326A>G (p.Glu442=) n.2038A>G c.906A>G (p.Glu302=)	dbSNP
2	g.218814607A>T	CA350594167	CYP27A1	c.1326A>T (p.Glu442Asp) n.2038A>T c.906A>T (p.Glu302Asp)
2	g.218814608A>C	CA350594171	CYP27A1	c.1327A>C (p.Ser443Arg) n.2039A>C c.907A>C (p.Ser303Arg)
2	g.218814608A>G	CA350594176	CYP27A1	c.1327A>G (p.Ser443Gly) n.2039A>G c.907A>G (p.Ser303Gly)
2	g.218814608A>T	CA350594177	CYP27A1	c.1327A>T (p.Ser443Cys) n.2039A>T c.907A>T (p.Ser303Cys)
2	g.218814609G>A	CA350594181	CYP27A1	c.1328G>A (p.Ser443Asn) n.2040G>A c.908G>A (p.Ser303Asn)
2	g.218814609G>C	CA350594190	CYP27A1	c.1328G>C (p.Ser443Thr) n.2040G>C c.908G>C (p.Ser303Thr)
2	g.218814609G=	CA1328929805	CYP27A1	c.1328G= (p.Ser443=) n.2040G= c.908G= (p.Ser303=)
2	g.218814609G>T	CA2112874	CYP27A1	c.1328G>T (p.Ser443Ile) n.2040G>T c.908G>T (p.Ser303Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814610C>A	CA350594198	CYP27A1	c.1329C>A (p.Ser443Arg) n.2041C>A c.909C>A (p.Ser303Arg)
2	g.218814610C>G	CA350594200	CYP27A1	c.1329C>G (p.Ser443Arg) n.2041C>G c.909C>G (p.Ser303Arg)
2	g.218814610C>T	CA431414342	CYP27A1	c.1329C>T (p.Ser443=) n.2041C>T c.909C>T (p.Ser303=)	ClinVar dbSNP
2	g.218814611_218814614del	CA2586971285	CYP27A1	c.1330_1333del (p.Phe444SerfsTer6) n.2042_2045del c.910_913del (p.Phe304SerfsTer6)	ClinVar
2	g.218814611T>A	CA350594205	CYP27A1	c.1330T>A (p.Phe444Ile) n.2042T>A c.910T>A (p.Phe304Ile)	dbSNP
2	g.218814611T>C	CA350594210	CYP27A1	c.1330T>C (p.Phe444Leu) n.2042T>C c.910T>C (p.Phe304Leu)
2	g.218814611T>G	CA350594211	CYP27A1	c.1330T>G (p.Phe444Val) n.2042T>G c.910T>G (p.Phe304Val)	gnomAD v4
2	g.218814611T=	CA1328929806	CYP27A1	c.1330T= (p.Phe444=) n.2042T= c.910T= (p.Phe304=)
2	g.218814612T>A	CA350594218	CYP27A1	c.1331T>A (p.Phe444Tyr) n.2043T>A c.911T>A (p.Phe304Tyr)
2	g.218814612T>C	CA350594214	CYP27A1	c.1331T>C (p.Phe444Ser) n.2043T>C c.911T>C (p.Phe304Ser)
2	g.218814612T>G	CA350594216	CYP27A1	c.1331T>G (p.Phe444Cys) n.2043T>G c.911T>G (p.Phe304Cys)	COSMIC
2	g.218814613C>A	CA350594221	CYP27A1	c.1332C>A (p.Phe444Leu) n.2044C>A c.912C>A (p.Phe304Leu)
2	g.218814613C=	CA1328929807	CYP27A1	c.1332C= (p.Phe444=) n.2044C= c.912C= (p.Phe304=)
2	g.218814613C>G	CA350594224	CYP27A1	c.1332C>G (p.Phe444Leu) n.2044C>G c.912C>G (p.Phe304Leu)
2	g.218814613C>T	CA2112875	CYP27A1	c.1332C>T (p.Phe444=) n.2044C>T c.912C>T (p.Phe304=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814614del	CA2695197132	CYP27A1	c.1333del (p.Gln445SerfsTer6) n.2045del c.913del (p.Gln305SerfsTer6)	ClinVar
2	g.218814614C>A	CA350594228	CYP27A1	c.1333C>A (p.Gln445Lys) n.2045C>A c.913C>A (p.Gln305Lys)
2	g.218814614C=	CA1328929808	CYP27A1	c.1333C= (p.Gln445=) n.2045C= c.913C= (p.Gln305=)
2	g.218814614C>G	CA350594231	CYP27A1	c.1333C>G (p.Gln445Glu) n.2045C>G c.913C>G (p.Gln305Glu)
2	g.218814614C>T	CA350594234	CYP27A1	c.1333C>T (p.Gln445Ter) n.2045C>T c.913C>T (p.Gln305Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.218814615A=	CA1328929809	CYP27A1	c.1334A= (p.Gln445=) n.2046A= c.914A= (p.Gln305=)
2	g.218814615A>C	CA350594238	CYP27A1	c.1334A>C (p.Gln445Pro) n.2046A>C c.914A>C (p.Gln305Pro)

Number of alleles fetched