Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
2	g.218814615A>G	CA2112876	CYP27A1	c.1334A>G (p.Gln445Arg) n.2046A>G c.914A>G (p.Gln305Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814615A>T	CA350594244	CYP27A1	c.1334A>T (p.Gln445Leu) n.2046A>T c.914A>T (p.Gln305Leu)
2	g.218814616G>A	CA431414355	CYP27A1	c.1335G>A (p.Gln445=) n.2047G>A c.915G>A (p.Gln305=)
2	g.218814616G>C	CA350594248	CYP27A1	c.1335G>C (p.Gln445His) n.2047G>C c.915G>C (p.Gln305His)
2	g.218814616G>T	CA350594253	CYP27A1	c.1335G>T (p.Gln445His) n.2047G>T c.915G>T (p.Gln305His)
2	g.218814616_218814617delinsGC	CA1328929810	CYP27A1	c.1335_1336delinsGC (p.Gln445=) n.2047_2048delinsGC c.915_916delinsGC (p.Gln305=)
2	g.218814617C>A	CA350594259	CYP27A1	c.1336C>A (p.Pro446Thr) n.2048C>A c.916C>A (p.Pro306Thr)
2	g.218814617C=	CA1328929811	CYP27A1	c.1336C= (p.Pro446=) n.2048C= c.916C= (p.Pro306=)
2	g.218814617C>G	CA350594262	CYP27A1	c.1336C>G (p.Pro446Ala) n.2048C>G c.916C>G (p.Pro306Ala)	ClinVar dbSNP
2	g.218814617C>T	CA2112877	CYP27A1	c.1336C>T (p.Pro446Ser) n.2048C>T c.916C>T (p.Pro306Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814620del	CA539840547	CYP27A1	c.1339del (p.His447ThrfsTer4) n.2051del c.919del (p.His307ThrfsTer4)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814618C>A	CA350594267	CYP27A1	c.1337C>A (p.Pro446His) n.2049C>A c.917C>A (p.Pro306His)
2	g.218814618C>G	CA350594269	CYP27A1	c.1337C>G (p.Pro446Arg) n.2049C>G c.917C>G (p.Pro306Arg)
2	g.218814618C>T	CA350594272	CYP27A1	c.1337C>T (p.Pro446Leu) n.2049C>T c.917C>T (p.Pro306Leu)
2	g.218814620_218814623dup	CA2573135323	CYP27A1	c.1339_1342dup (p.Arg448ProfsTer?) n.2051_2054dup c.919_922dup (p.Arg308ProfsTer?)	ClinVar dbSNP
2	g.218814619C>A	CA431414364	CYP27A1	c.1338C>A (p.Pro446=) n.2050C>A c.918C>A (p.Pro306=)
2	g.218814619C>G	CA431414367	CYP27A1	c.1338C>G (p.Pro446=) n.2050C>G c.918C>G (p.Pro306=)
2	g.218814619C>T	CA431414369	CYP27A1	c.1338C>T (p.Pro446=) n.2050C>T c.918C>T (p.Pro306=)
2	g.218814620C>A	CA350594273	CYP27A1	c.1339C>A (p.His447Asn) n.2051C>A c.919C>A (p.His307Asn)
2	g.218814620C>G	CA350594274	CYP27A1	c.1339C>G (p.His447Asp) n.2051C>G c.919C>G (p.His307Asp)
2	g.218814620C>T	CA350594275	CYP27A1	c.1339C>T (p.His447Tyr) n.2051C>T c.919C>T (p.His307Tyr)	COSMIC
2	g.218814621A>C	CA350594280	CYP27A1	c.1340A>C (p.His447Pro) n.2052A>C c.920A>C (p.His307Pro)	gnomAD v4
2	g.218814621A>G	CA350594283	CYP27A1	c.1340A>G (p.His447Arg) n.2052A>G c.920A>G (p.His307Arg)	gnomAD v4
2	g.218814621A>T	CA350594288	CYP27A1	c.1340A>T (p.His447Leu) n.2052A>T c.920A>T (p.His307Leu)
2	g.218814622C>A	CA350594291	CYP27A1	c.1341C>A (p.His447Gln) n.2053C>A c.921C>A (p.His307Gln)
2	g.218814622C>G	CA350594294	CYP27A1	c.1341C>G (p.His447Gln) n.2053C>G c.921C>G (p.His307Gln)
2	g.218814622C>T	CA431414387	CYP27A1	c.1341C>T (p.His447=) n.2053C>T c.921C>T (p.His307=)
2	g.218814623C>A	CA2112878	CYP27A1	c.1342C>A (p.Arg448Ser) n.2054C>A c.922C>A (p.Arg308Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814623C=	CA1328929812	CYP27A1	c.1342C= (p.Arg448=) n.2054C= c.922C= (p.Arg308=)
2	g.218814623C>G	CA350594304	CYP27A1	c.1342C>G (p.Arg448Gly) n.2054C>G c.922C>G (p.Arg308Gly)
2	g.218814623C>T	CA186041	CYP27A1	c.1342C>T (p.Arg448Cys) n.2054C>T c.922C>T (p.Arg308Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.218814624G>A	CA247555	CYP27A1	c.1343G>A (p.Arg448His) n.2055G>A c.923G>A (p.Arg308His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.218814624G>C	CA350594317	CYP27A1	c.1343G>C (p.Arg448Pro) n.2055G>C c.923G>C (p.Arg308Pro)
2	g.218814624G=	CA1328929813	CYP27A1	c.1343G= (p.Arg448=) n.2055G= c.923G= (p.Arg308=)
2	g.218814624G>T	CA65835309	CYP27A1	c.1343G>T (p.Arg448Leu) n.2055G>T c.923G>T (p.Arg308Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.218814625C>A	CA431414390	CYP27A1	c.1344C>A (p.Arg448=) n.2056C>A c.924C>A (p.Arg308=)	gnomAD v4
2	g.218814625C>G	CA431414392	CYP27A1	c.1344C>G (p.Arg448=) n.2056C>G c.924C>G (p.Arg308=)
2	g.218814625C>T	CA431414394	CYP27A1	c.1344C>T (p.Arg448=) n.2056C>T c.924C>T (p.Arg308=)
2	g.218814626T>A	CA350594325	CYP27A1	c.1345T>A (p.Trp449Arg) n.2057T>A c.925T>A (p.Trp309Arg)
2	g.218814626T>C	CA350594328	CYP27A1	c.1345T>C (p.Trp449Arg) n.2057T>C c.925T>C (p.Trp309Arg)
2	g.218814626T>G	CA350594331	CYP27A1	c.1345T>G (p.Trp449Gly) n.2057T>G c.925T>G (p.Trp309Gly)
2	g.218814627G>A	CA350594335	CYP27A1	c.1346G>A (p.Trp449Ter) n.2058G>A c.926G>A (p.Trp309Ter)
2	g.218814627G>C	CA350594340	CYP27A1	c.1346G>C (p.Trp449Ser) n.2058G>C c.926G>C (p.Trp309Ser)
2	g.218814627G>T	CA350594337	CYP27A1	c.1346G>T (p.Trp449Leu) n.2058G>T c.926G>T (p.Trp309Leu)	COSMIC
2	g.218814628G>A	CA350594349	CYP27A1	c.1347G>A (p.Trp449Ter) n.2059G>A c.927G>A (p.Trp309Ter)
2	g.218814628G>C	CA350594350	CYP27A1	c.1347G>C (p.Trp449Cys) n.2059G>C c.927G>C (p.Trp309Cys)
2	g.218814628G>T	CA350594351	CYP27A1	c.1347G>T (p.Trp449Cys) n.2059G>T c.927G>T (p.Trp309Cys)
2	g.218814629C>A	CA350594356	CYP27A1	c.1348C>A (p.Leu450Met) n.2060C>A c.928C>A (p.Leu310Met)	gnomAD v4
2	g.218814629C=	CA1328929814	CYP27A1	c.1348C= (p.Leu450=) n.2060C= c.928C= (p.Leu310=)
2	g.218814629C>G	CA350594359	CYP27A1	c.1348C>G (p.Leu450Val) n.2060C>G c.928C>G (p.Leu310Val)	ClinVar dbSNP
2	g.218814629C>T	CA65835314	CYP27A1	c.1348C>T (p.Leu450=) n.2060C>T c.928C>T (p.Leu310=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.218814630T>A	CA350594368	CYP27A1	c.1349T>A (p.Leu450Gln) n.2061T>A c.929T>A (p.Leu310Gln)
2	g.218814630T>C	CA350594366	CYP27A1	c.1349T>C (p.Leu450Pro) n.2061T>C c.929T>C (p.Leu310Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814630T>G	CA350594363	CYP27A1	c.1349T>G (p.Leu450Arg) n.2061T>G c.929T>G (p.Leu310Arg)
2	g.218814630T=	CA1328929815	CYP27A1	c.1349T= (p.Leu450=) n.2061T= c.929T= (p.Leu310=)
2	g.218814631G>A	CA431414413	CYP27A1	c.1350G>A (p.Leu450=) n.2062G>A c.930G>A (p.Leu310=)	gnomAD v4 COSMIC
2	g.218814631G>C	CA431414411	CYP27A1	c.1350G>C (p.Leu450=) n.2062G>C c.930G>C (p.Leu310=)
2	g.218814631G>T	CA431414412	CYP27A1	c.1350G>T (p.Leu450=) n.2062G>T c.930G>T (p.Leu310=)
2	g.218814632A>C	CA431414415	CYP27A1	c.1351A>C (p.Arg451=) n.2063A>C c.931A>C (p.Arg311=)
2	g.218814632A>G	CA350594372	CYP27A1	c.1351A>G (p.Arg451Gly) n.2063A>G c.931A>G (p.Arg311Gly)
2	g.218814632A>T	CA350594370	CYP27A1	c.1351A>T (p.Arg451Ter) n.2063A>T c.931A>T (p.Arg311Ter)
2	g.218814633G>A	CA350594380	CYP27A1	c.1352G>A (p.Arg451Lys) n.2064G>A c.932G>A (p.Arg311Lys)	dbSNP
2	g.218814633G>C	CA350594375	CYP27A1	c.1352G>C (p.Arg451Thr) n.2064G>C c.932G>C (p.Arg311Thr)	COSMIC
2	g.218814633G=	CA1328929816	CYP27A1	c.1352G= (p.Arg451=) n.2064G= c.932G= (p.Arg311=)
2	g.218814633G>T	CA350594377	CYP27A1	c.1352G>T (p.Arg451Ile) n.2064G>T c.932G>T (p.Arg311Ile)
2	g.218814634A>C	CA350594386	CYP27A1	c.1353A>C (p.Arg451Ser) n.2065A>C c.933A>C (p.Arg311Ser)
2	g.218814634A>G	CA431414424	CYP27A1	c.1353A>G (p.Arg451=) n.2065A>G c.933A>G (p.Arg311=)
2	g.218814634A>T	CA350594391	CYP27A1	c.1353A>T (p.Arg451Ser) n.2065A>T c.933A>T (p.Arg311Ser)
2	g.218814635A>C	CA350594395	CYP27A1	c.1354A>C (p.Asn452His) n.2066A>C c.934A>C (p.Asn312His)
2	g.218814635A>G	CA350594398	CYP27A1	c.1354A>G (p.Asn452Asp) n.2066A>G c.934A>G (p.Asn312Asp)
2	g.218814635A>T	CA350594402	CYP27A1	c.1354A>T (p.Asn452Tyr) n.2066A>T c.934A>T (p.Asn312Tyr)
2	g.218814636A>C	CA350594407	CYP27A1	c.1355A>C (p.Asn452Thr) n.2067A>C c.935A>C (p.Asn312Thr)
2	g.218814636A>G	CA350594409	CYP27A1	c.1355A>G (p.Asn452Ser) n.2067A>G c.935A>G (p.Asn312Ser)
2	g.218814636A>T	CA350594414	CYP27A1	c.1355A>T (p.Asn452Ile) n.2067A>T c.935A>T (p.Asn312Ile)
2	g.218814637C>A	CA350594425	CYP27A1	c.1356C>A (p.Asn452Lys) n.2068C>A c.936C>A (p.Asn312Lys)
2	g.218814637C=	CA1328929817	CYP27A1	c.1356C= (p.Asn452=) n.2068C= c.936C= (p.Asn312=)
2	g.218814637C>G	CA350594429	CYP27A1	c.1356C>G (p.Asn452Lys) n.2068C>G c.936C>G (p.Asn312Lys)
2	g.218814637C>T	CA2112879	CYP27A1	c.1356C>T (p.Asn452=) n.2068C>T c.936C>T (p.Asn312=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814638A>C	CA350594438	CYP27A1	c.1357A>C (p.Ser453Arg) n.2069A>C c.937A>C (p.Ser313Arg)
2	g.218814638A>G	CA350594443	CYP27A1	c.1357A>G (p.Ser453Gly) n.2069A>G c.937A>G (p.Ser313Gly)
2	g.218814638A>T	CA350594442	CYP27A1	c.1357A>T (p.Ser453Cys) n.2069A>T c.937A>T (p.Ser313Cys)
2	g.218814639G>A	CA350594444	CYP27A1	c.1358G>A (p.Ser453Asn) n.2070G>A c.938G>A (p.Ser313Asn)
2	g.218814639G>C	CA350594445	CYP27A1	c.1358G>C (p.Ser453Thr) n.2070G>C c.938G>C (p.Ser313Thr)
2	g.218814639G>T	CA350594446	CYP27A1	c.1358G>T (p.Ser453Ile) n.2070G>T c.938G>T (p.Ser313Ile)
2	g.218814640C>A	CA350594449	CYP27A1	c.1359C>A (p.Ser453Arg) n.2071C>A c.939C>A (p.Ser313Arg)
2	g.218814640C>G	CA350594450	CYP27A1	c.1359C>G (p.Ser453Arg) n.2071C>G c.939C>G (p.Ser313Arg)
2	g.218814640C>T	CA431414441	CYP27A1	c.1359C>T (p.Ser453=) n.2071C>T c.939C>T (p.Ser313=)
2	g.218814641C>A	CA350594456	CYP27A1	c.1360C>A (p.Gln454Lys) n.2072C>A c.940C>A (p.Gln314Lys)	gnomAD v4
2	g.218814641C>G	CA350594462	CYP27A1	c.1360C>G (p.Gln454Glu) n.2072C>G c.940C>G (p.Gln314Glu)
2	g.218814641C>T	CA350594465	CYP27A1	c.1360C>T (p.Gln454Ter) n.2072C>T c.940C>T (p.Gln314Ter)
2	g.218814642A>C	CA350594470	CYP27A1	c.1361A>C (p.Gln454Pro) n.2073A>C c.941A>C (p.Gln314Pro)
2	g.218814642A>G	CA350594474	CYP27A1	c.1361A>G (p.Gln454Arg) n.2073A>G c.941A>G (p.Gln314Arg)
2	g.218814642A>T	CA350594478	CYP27A1	c.1361A>T (p.Gln454Leu) n.2073A>T c.941A>T (p.Gln314Leu)
2	g.218814643G>A	CA431414450	CYP27A1	c.1362G>A (p.Gln454=) n.2074G>A c.942G>A (p.Gln314=)
2	g.218814643G>C	CA350594513	CYP27A1	c.1362G>C (p.Gln454His) n.2074G>C c.942G>C (p.Gln314His)
2	g.218814643G>T	CA350594504	CYP27A1	c.1362G>T (p.Gln454His) n.2074G>T c.942G>T (p.Gln314His)
2	g.218814644C>A	CA350594523	CYP27A1	c.1363C>A (p.Pro455Thr) n.2075C>A c.943C>A (p.Pro315Thr)
2	g.218814644C>G	CA350594524	CYP27A1	c.1363C>G (p.Pro455Ala) n.2075C>G c.943C>G (p.Pro315Ala)	gnomAD v4
2	g.218814644C>T	CA350594525	CYP27A1	c.1363C>T (p.Pro455Ser) n.2075C>T c.943C>T (p.Pro315Ser)
2	g.218814645C>A	CA350594531	CYP27A1	c.1364C>A (p.Pro455His) n.2076C>A c.944C>A (p.Pro315His)
2	g.218814645C>G	CA350594534	CYP27A1	c.1364C>G (p.Pro455Arg) n.2076C>G c.944C>G (p.Pro315Arg)
2	g.218814645C>T	CA350594545	CYP27A1	c.1364C>T (p.Pro455Leu) n.2076C>T c.944C>T (p.Pro315Leu)
2	g.218814646T>A	CA431414454	CYP27A1	c.1365T>A (p.Pro455=) n.2077T>A c.945T>A (p.Pro315=)
2	g.218814646T>C	CA431414456	CYP27A1	c.1365T>C (p.Pro455=) n.2077T>C c.945T>C (p.Pro315=)
2	g.218814646T>G	CA431414457	CYP27A1	c.1365T>G (p.Pro455=) n.2077T>G c.945T>G (p.Pro315=)
2	g.218814647G>A	CA350594549	CYP27A1	c.1366G>A (p.Ala456Thr) n.2078G>A c.946G>A (p.Ala316Thr)	dbSNP
2	g.218814647G>C	CA350594553	CYP27A1	c.1366G>C (p.Ala456Pro) n.2078G>C c.946G>C (p.Ala316Pro)
2	g.218814647G=	CA1328929818	CYP27A1	c.1366G= (p.Ala456=) n.2078G= c.946G= (p.Ala316=)
2	g.218814647G>T	CA350594554	CYP27A1	c.1366G>T (p.Ala456Ser) n.2078G>T c.946G>T (p.Ala316Ser)
2	g.218814648C>A	CA350594555	CYP27A1	c.1367C>A (p.Ala456Asp) n.2079C>A c.947C>A (p.Ala316Asp)
2	g.218814648C=	CA1328929819	CYP27A1	c.1367C= (p.Ala456=) n.2079C= c.947C= (p.Ala316=)
2	g.218814648C>G	CA350594556	CYP27A1	c.1367C>G (p.Ala456Gly) n.2079C>G c.947C>G (p.Ala316Gly)
2	g.218814648C>T	CA350594560	CYP27A1	c.1367C>T (p.Ala456Val) n.2079C>T c.947C>T (p.Ala316Val)	dbSNP gnomAD v2
2	g.218814649T>A	CA431414468	CYP27A1	c.1368T>A (p.Ala456=) n.2080T>A c.948T>A (p.Ala316=)
2	g.218814649T>C	CA431414466	CYP27A1	c.1368T>C (p.Ala456=) n.2080T>C c.948T>C (p.Ala316=)
2	g.218814649T>G	CA431414467	CYP27A1	c.1368T>G (p.Ala456=) n.2080T>G c.948T>G (p.Ala316=)
2	g.218814650A=	CA1328929820	CYP27A1	c.1369A= (p.Thr457=) n.2081A= c.949A= (p.Thr317=)
2	g.218814650A>C	CA350594569	CYP27A1	c.1369A>C (p.Thr457Pro) n.2081A>C c.949A>C (p.Thr317Pro)
2	g.218814650A>G	CA65835326	CYP27A1	c.1369A>G (p.Thr457Ala) n.2081A>G c.949A>G (p.Thr317Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814650A>T	CA350594564	CYP27A1	c.1369A>T (p.Thr457Ser) n.2081A>T c.949A>T (p.Thr317Ser)
2	g.218814650_218814651delinsAC	CA1328929821	CYP27A1	c.1369_1370delinsAC (p.Thr457=) n.2081_2082delinsAC c.949_950delinsAC (p.Thr317=)
2	g.218814651C>A	CA350594576	CYP27A1	c.1370C>A (p.Thr457Asn) n.2082C>A c.950C>A (p.Thr317Asn)
2	g.218814651C>G	CA350594580	CYP27A1	c.1370C>G (p.Thr457Ser) n.2082C>G c.950C>G (p.Thr317Ser)
2	g.218814651C>T	CA350594585	CYP27A1	c.1370C>T (p.Thr457Ile) n.2082C>T c.950C>T (p.Thr317Ile)
2	g.218814655dup	CA2112880	CYP27A1	c.1374dup (p.Arg459GlnfsTer?) n.2086dup c.954dup (p.Arg319GlnfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814655del	CA916778175	CYP27A1	c.1374del (p.Arg459GlyfsTer?) n.2086del c.954del (p.Arg319GlyfsTer?)	ClinVar dbSNP
2	g.218814652C>A	CA431414479	CYP27A1	c.1371C>A (p.Thr457=) n.2083C>A c.951C>A (p.Thr317=)
2	g.218814652C=	CA1328929822	CYP27A1	c.1371C= (p.Thr457=) n.2083C= c.951C= (p.Thr317=)
2	g.218814652C>G	CA431414480	CYP27A1	c.1371C>G (p.Thr457=) n.2083C>G c.951C>G (p.Thr317=)
2	g.218814652C>T	CA431414481	CYP27A1	c.1371C>T (p.Thr457=) n.2083C>T c.951C>T (p.Thr317=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.218814653C>A	CA350594599	CYP27A1	c.1372C>A (p.Pro458Thr) n.2084C>A c.952C>A (p.Pro318Thr)
2	g.218814653C=	CA1328929823	CYP27A1	c.1372C= (p.Pro458=) n.2084C= c.952C= (p.Pro318=)
2	g.218814653C>G	CA350594598	CYP27A1	c.1372C>G (p.Pro458Ala) n.2084C>G c.952C>G (p.Pro318Ala)
2	g.218814653C>T	CA350594595	CYP27A1	c.1372C>T (p.Pro458Ser) n.2084C>T c.952C>T (p.Pro318Ser)	dbSNP gnomAD v4
2	g.218814654C>A	CA350594603	CYP27A1	c.1373C>A (p.Pro458His) n.2085C>A c.953C>A (p.Pro318His)	dbSNP gnomAD v4
2	g.218814654C=	CA1328929824	CYP27A1	c.1373C= (p.Pro458=) n.2085C= c.953C= (p.Pro318=)
2	g.218814654C>G	CA350594606	CYP27A1	c.1373C>G (p.Pro458Arg) n.2085C>G c.953C>G (p.Pro318Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.218814654C>T	CA2112881	CYP27A1	c.1373C>T (p.Pro458Leu) n.2085C>T c.953C>T (p.Pro318Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814655C>A	CA344935	CYP27A1	c.1374C>A (p.Pro458=) n.2086C>A c.954C>A (p.Pro318=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814655C=	CA1328929825	CYP27A1	c.1374C= (p.Pro458=) n.2086C= c.954C= (p.Pro318=)
2	g.218814655C>G	CA431414491	CYP27A1	c.1374C>G (p.Pro458=) n.2086C>G c.954C>G (p.Pro318=)
2	g.218814655C>T	CA431414492	CYP27A1	c.1374C>T (p.Pro458=) n.2086C>T c.954C>T (p.Pro318=)	ClinVar dbSNP gnomAD v4
2	g.218814655_218814659delinsCAGGA	CA1328929826	CYP27A1	c.1374_1378delinsCAGGA (p.Pro458=) n.2086_2090delinsCAGGA c.954_958delinsCAGGA (p.Pro318=)
2	g.218814656del	CA2580065703	CYP27A1	c.1375del (p.Arg459GlyfsTer?) n.2087del c.955del (p.Arg319GlyfsTer?)	ClinVar
2	g.218814656A=	CA1328929827	CYP27A1	c.1375A= (p.Arg459=) n.2087A= c.955A= (p.Arg319=)
2	g.218814656A>C	CA2112882	CYP27A1	c.1375A>C (p.Arg459=) n.2087A>C c.955A>C (p.Arg319=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814656A>G	CA350594617	CYP27A1	c.1375A>G (p.Arg459Gly) n.2087A>G c.955A>G (p.Arg319Gly)	dbSNP
2	g.218814656A>T	CA2112883	CYP27A1	c.1375A>T (p.Arg459Trp) n.2087A>T c.955A>T (p.Arg319Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814656_218814659delinsC	CA65835381	CYP27A1	c.1375_1378delinsC (p.Arg459_Ile460delinsLeu) n.2087_2090delinsC c.955_958delinsC (p.Arg319_Ile320delinsLeu)	dbSNP
2	g.218814657_218814659del	CA65835376	CYP27A1	c.1376_1378del (p.Arg459del) n.2088_2090del c.956_958del (p.Arg319del)	dbSNP
2	g.218814657G>A	CA350594623	CYP27A1	c.1376G>A (p.Arg459Lys) n.2088G>A c.956G>A (p.Arg319Lys)	gnomAD v4
2	g.218814657G>C	CA350594643	CYP27A1	c.1376G>C (p.Arg459Thr) n.2088G>C c.956G>C (p.Arg319Thr)
2	g.218814657G>T	CA350594620	CYP27A1	c.1376G>T (p.Arg459Met) n.2088G>T c.956G>T (p.Arg319Met)
2	g.218814658G>A	CA431414497	CYP27A1	c.1377G>A (p.Arg459=) n.2089G>A c.957G>A (p.Arg319=)
2	g.218814658G>C	CA350594647	CYP27A1	c.1377G>C (p.Arg459Ser) n.2089G>C c.957G>C (p.Arg319Ser)
2	g.218814658G>T	CA350594649	CYP27A1	c.1377G>T (p.Arg459Ser) n.2089G>T c.957G>T (p.Arg319Ser)
2	g.218814659A>C	CA350594651	CYP27A1	c.1378A>C (p.Ile460Leu) n.2090A>C c.958A>C (p.Ile320Leu)	gnomAD v4
2	g.218814659A>G	CA350594652	CYP27A1	c.1378A>G (p.Ile460Val) n.2090A>G c.958A>G (p.Ile320Val)
2	g.218814659A>T	CA350594655	CYP27A1	c.1378A>T (p.Ile460Phe) n.2090A>T c.958A>T (p.Ile320Phe)	gnomAD v4
2	g.218814660T>A	CA350594660	CYP27A1	c.1379T>A (p.Ile460Asn) n.2091T>A c.959T>A (p.Ile320Asn)
2	g.218814660T>C	CA350594665	CYP27A1	c.1379T>C (p.Ile460Thr) n.2091T>C c.959T>C (p.Ile320Thr)
2	g.218814660T>G	CA2112884	CYP27A1	c.1379T>G (p.Ile460Ser) n.2091T>G c.959T>G (p.Ile320Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814660T=	CA1328929828	CYP27A1	c.1379T= (p.Ile460=) n.2091T= c.959T= (p.Ile320=)
2	g.218814661C>A	CA431414514	CYP27A1	c.1380C>A (p.Ile460=) n.2092C>A c.960C>A (p.Ile320=)
2	g.218814661C>G	CA350594682	CYP27A1	c.1380C>G (p.Ile460Met) n.2092C>G c.960C>G (p.Ile320Met)
2	g.218814661C>T	CA431414517	CYP27A1	c.1380C>T (p.Ile460=) n.2092C>T c.960C>T (p.Ile320=)	ClinVar
2	g.218814662C>A	CA350594686	CYP27A1	c.1381C>A (p.Gln461Lys) n.2093C>A c.961C>A (p.Gln321Lys)
2	g.218814662C=	CA1328929829	CYP27A1	c.1381C= (p.Gln461=) n.2093C= c.961C= (p.Gln321=)
2	g.218814662C>G	CA350594699	CYP27A1	c.1381C>G (p.Gln461Glu) n.2093C>G c.961C>G (p.Gln321Glu)
2	g.218814662C>T	CA2112885	CYP27A1	c.1381C>T (p.Gln461Ter) n.2093C>T c.961C>T (p.Gln321Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814663A>C	CA350594722	CYP27A1	c.1382A>C (p.Gln461Pro) n.2094A>C c.962A>C (p.Gln321Pro)
2	g.218814663A>G	CA350594725	CYP27A1	c.1382A>G (p.Gln461Arg) n.2094A>G c.962A>G (p.Gln321Arg)
2	g.218814663A>T	CA350594739	CYP27A1	c.1382A>T (p.Gln461Leu) n.2094A>T c.962A>T (p.Gln321Leu)
2	g.218814664G>A	CA431414527	CYP27A1	c.1383G>A (p.Gln461=) n.2095G>A c.963G>A (p.Gln321=)
2	g.218814664G>C	CA350594744	CYP27A1	c.1383G>C (p.Gln461His) n.2095G>C c.963G>C (p.Gln321His)
2	g.218814664G>T	CA350594743	CYP27A1	c.1383G>T (p.Gln461His) n.2095G>T c.963G>T (p.Gln321His)	gnomAD v4
2	g.218814665C>A	CA350594746	CYP27A1	c.1384C>A (p.His462Asn) n.2096C>A c.964C>A (p.His322Asn)	gnomAD v4
2	g.218814665C>G	CA350594748	CYP27A1	c.1384C>G (p.His462Asp) n.2096C>G c.964C>G (p.His322Asp)
2	g.218814665C>T	CA350594750	CYP27A1	c.1384C>T (p.His462Tyr) n.2096C>T c.964C>T (p.His322Tyr)	gnomAD v4
2	g.218814666A>C	CA350594751	CYP27A1	c.1385A>C (p.His462Pro) n.2097A>C c.965A>C (p.His322Pro)
2	g.218814666A>G	CA350594752	CYP27A1	c.1385A>G (p.His462Arg) n.2097A>G c.965A>G (p.His322Arg)
2	g.218814666A>T	CA350594755	CYP27A1	c.1385A>T (p.His462Leu) n.2097A>T c.965A>T (p.His322Leu)
2	g.218814667C>A	CA350594761	CYP27A1	c.1386C>A (p.His462Gln) n.2098C>A c.966C>A (p.His322Gln)
2	g.218814667C>G	CA350594760	CYP27A1	c.1386C>G (p.His462Gln) n.2098C>G c.966C>G (p.His322Gln)
2	g.218814667C>T	CA431414536	CYP27A1	c.1386C>T (p.His462=) n.2098C>T c.966C>T (p.His322=)	gnomAD v4
2	g.218814669del	CA2663168359	CYP27A1	c.1388del (p.Pro463HisfsTer?) n.2100del c.968del (p.Pro323HisfsTer?)	gnomAD v4
2	g.218814668C>A	CA350594764	CYP27A1	c.1387C>A (p.Pro463Thr) n.2099C>A c.967C>A (p.Pro323Thr)
2	g.218814668C>G	CA350594766	CYP27A1	c.1387C>G (p.Pro463Ala) n.2099C>G c.967C>G (p.Pro323Ala)
2	g.218814668C>T	CA350594769	CYP27A1	c.1387C>T (p.Pro463Ser) n.2099C>T c.967C>T (p.Pro323Ser)
2	g.218814669C>A	CA350594773	CYP27A1	c.1388C>A (p.Pro463Gln) n.2100C>A c.968C>A (p.Pro323Gln)
2	g.218814669C=	CA1328929830	CYP27A1	c.1388C= (p.Pro463=) n.2100C= c.968C= (p.Pro323=)
2	g.218814669C>G	CA350594776	CYP27A1	c.1388C>G (p.Pro463Arg) n.2100C>G c.968C>G (p.Pro323Arg)
2	g.218814669C>T	CA350594779	CYP27A1	c.1388C>T (p.Pro463Leu) n.2100C>T c.968C>T (p.Pro323Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.218814670A>C	CA431414544	CYP27A1	c.1389A>C (p.Pro463=) n.2101A>C c.969A>C (p.Pro323=)	gnomAD v4
2	g.218814670A>G	CA431414545	CYP27A1	c.1389A>G (p.Pro463=) n.2101A>G c.969A>G (p.Pro323=)
2	g.218814670A>T	CA431414549	CYP27A1	c.1389A>T (p.Pro463=) n.2101A>T c.969A>T (p.Pro323=)
2	g.218814671T>A	CA350594783	CYP27A1	c.1390T>A (p.Phe464Ile) n.2102T>A c.970T>A (p.Phe324Ile)
2	g.218814671T>C	CA350594789	CYP27A1	c.1390T>C (p.Phe464Leu) n.2102T>C c.970T>C (p.Phe324Leu)	dbSNP gnomAD v3 gnomAD v4
2	g.218814671T>G	CA350594787	CYP27A1	c.1390T>G (p.Phe464Val) n.2102T>G c.970T>G (p.Phe324Val)
2	g.218814671T=	CA1328929831	CYP27A1	c.1390T= (p.Phe464=) n.2102T= c.970T= (p.Phe324=)
2	g.218814672T>A	CA350594790	CYP27A1	c.1391T>A (p.Phe464Tyr) n.2103T>A c.971T>A (p.Phe324Tyr)
2	g.218814672T>C	CA350594793	CYP27A1	c.1391T>C (p.Phe464Ser) n.2103T>C c.971T>C (p.Phe324Ser)	gnomAD v4
2	g.218814672T>G	CA350594798	CYP27A1	c.1391T>G (p.Phe464Cys) n.2103T>G c.971T>G (p.Phe324Cys)	ClinVar dbSNP
2	g.218814673T>A	CA350594809	CYP27A1	c.1392T>A (p.Phe464Leu) n.2104T>A c.972T>A (p.Phe324Leu)
2	g.218814673T>C	CA431414552	CYP27A1	c.1392T>C (p.Phe464=) n.2104T>C c.972T>C (p.Phe324=)
2	g.218814673T>G	CA350594811	CYP27A1	c.1392T>G (p.Phe464Leu) n.2104T>G c.972T>G (p.Phe324Leu)
2	g.218814674G>A	CA350594820	CYP27A1	c.1393G>A (p.Gly465Ser) n.2105G>A c.973G>A (p.Gly325Ser)	dbSNP
2	g.218814674G>C	CA350594819	CYP27A1	c.1393G>C (p.Gly465Arg) n.2105G>C c.973G>C (p.Gly325Arg)
2	g.218814674G=	CA1328929832	CYP27A1	c.1393G= (p.Gly465=) n.2105G= c.973G= (p.Gly325=)
2	g.218814674G>T	CA350594815	CYP27A1	c.1393G>T (p.Gly465Cys) n.2105G>T c.973G>T (p.Gly325Cys)
2	g.218814675G>A	CA350594821	CYP27A1	c.1394G>A (p.Gly465Asp) n.2106G>A c.974G>A (p.Gly325Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.218814675G>C	CA350594822	CYP27A1	c.1394G>C (p.Gly465Ala) n.2106G>C c.974G>C (p.Gly325Ala)
2	g.218814675G=	CA1328929833	CYP27A1	c.1394G= (p.Gly465=) n.2106G= c.974G= (p.Gly325=)
2	g.218814675G>T	CA2112886	CYP27A1	c.1394G>T (p.Gly465Val) n.2106G>T c.974G>T (p.Gly325Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814676C>A	CA431414556	CYP27A1	c.1395C>A (p.Gly465=) n.2107C>A c.975C>A (p.Gly325=)
2	g.218814676C>G	CA431414557	CYP27A1	c.1395C>G (p.Gly465=) n.2107C>G c.975C>G (p.Gly325=)
2	g.218814676C>T	CA431414558	CYP27A1	c.1395C>T (p.Gly465=) n.2107C>T c.975C>T (p.Gly325=)
2	g.218814677T>A	CA350594835	CYP27A1	c.1396T>A (p.Ser466Thr) n.2108T>A c.976T>A (p.Ser326Thr)
2	g.218814677T>C	CA350594851	CYP27A1	c.1396T>C (p.Ser466Pro) n.2108T>C c.976T>C (p.Ser326Pro)
2	g.218814677T>G	CA350594855	CYP27A1	c.1396T>G (p.Ser466Ala) n.2108T>G c.976T>G (p.Ser326Ala)
2	g.218814678C>A	CA350594861	CYP27A1	c.1397C>A (p.Ser466Tyr) n.2109C>A c.977C>A (p.Ser326Tyr)
2	g.218814678C>G	CA350594882	CYP27A1	c.1397C>G (p.Ser466Cys) n.2109C>G c.977C>G (p.Ser326Cys)
2	g.218814678C>T	CA350594875	CYP27A1	c.1397C>T (p.Ser466Phe) n.2109C>T c.977C>T (p.Ser326Phe)	gnomAD v4
2	g.218814679T>A	CA431414572	CYP27A1	c.1398T>A (p.Ser466=) n.2110T>A c.978T>A (p.Ser326=)
2	g.218814679T>C	CA431414571	CYP27A1	c.1398T>C (p.Ser466=) n.2110T>C c.978T>C (p.Ser326=)
2	g.218814679T>G	CA431414568	CYP27A1	c.1398T>G (p.Ser466=) n.2110T>G c.978T>G (p.Ser326=)
2	g.218814680G>A	CA350594908	CYP27A1	c.1399G>A (p.Val467Met) n.2111G>A c.979G>A (p.Val327Met)
2	g.218814680G>C	CA350594914	CYP27A1	c.1399G>C (p.Val467Leu) n.2111G>C c.979G>C (p.Val327Leu)	ClinVar dbSNP gnomAD v4
2	g.218814680G>T	CA350594920	CYP27A1	c.1399G>T (p.Val467Leu) n.2111G>T c.979G>T (p.Val327Leu)
2	g.218814681T>A	CA350594925	CYP27A1	c.1400T>A (p.Val467Glu) n.2112T>A c.980T>A (p.Val327Glu)
2	g.218814681T>C	CA350594928	CYP27A1	c.1400T>C (p.Val467Ala) n.2112T>C c.980T>C (p.Val327Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.218814681T>G	CA350594930	CYP27A1	c.1400T>G (p.Val467Gly) n.2112T>G c.980T>G (p.Val327Gly)
2	g.218814681T=	CA1328929834	CYP27A1	c.1400T= (p.Val467=) n.2112T= c.980T= (p.Val327=)
2	g.218814682G>A	CA2112887	CYP27A1	c.1401G>A (p.Val467=) n.2113G>A c.981G>A (p.Val327=)	dbSNP ExAC gnomAD v2
2	g.218814682G>C	CA431414575	CYP27A1	c.1401G>C (p.Val467=) n.2113G>C c.981G>C (p.Val327=)
2	g.218814682G=	CA1328929835	CYP27A1	c.1401G= (p.Val467=) n.2113G= c.981G= (p.Val327=)
2	g.218814682G>T	CA431414576	CYP27A1	c.1401G>T (p.Val467=) n.2113G>T c.981G>T (p.Val327=)
2	g.218814683C>A	CA350594939	CYP27A1	c.1402C>A (p.Pro468Thr) n.2114C>A c.982C>A (p.Pro328Thr)
2	g.218814683C=	CA1328929836	CYP27A1	c.1402C= (p.Pro468=) n.2114C= c.982C= (p.Pro328=)
2	g.218814683C>G	CA350594948	CYP27A1	c.1402C>G (p.Pro468Ala) n.2114C>G c.982C>G (p.Pro328Ala)
2	g.218814683C>T	CA345179	CYP27A1	c.1402C>T (p.Pro468Ser) n.2114C>T c.982C>T (p.Pro328Ser)	ClinVar dbSNP gnomAD v4
2	g.218814684C>A	CA350594953	CYP27A1	c.1403C>A (p.Pro468His) n.2115C>A c.983C>A (p.Pro328His)
2	g.218814684C=	CA1328929837	CYP27A1	c.1403C= (p.Pro468=) n.2115C= c.983C= (p.Pro328=)
2	g.218814684C>G	CA350594960	CYP27A1	c.1403C>G (p.Pro468Arg) n.2115C>G c.983C>G (p.Pro328Arg)
2	g.218814684C>T	CA350594957	CYP27A1	c.1403C>T (p.Pro468Leu) n.2115C>T c.983C>T (p.Pro328Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.218814685C>A	CA431414583	CYP27A1	c.1404C>A (p.Pro468=) n.2116C>A c.984C>A (p.Pro328=)
2	g.218814685C=	CA1328929838	CYP27A1	c.1404C= (p.Pro468=) n.2116C= c.984C= (p.Pro328=)
2	g.218814685C>G	CA431414584	CYP27A1	c.1404C>G (p.Pro468=) n.2116C>G c.984C>G (p.Pro328=)	dbSNP gnomAD v2 gnomAD v4
2	g.218814685C>T	CA431414585	CYP27A1	c.1404C>T (p.Pro468=) n.2116C>T c.984C>T (p.Pro328=)	ClinVar
2	g.218814686T>A	CA350594964	CYP27A1	c.1405T>A (p.Phe469Ile) n.2117T>A c.985T>A (p.Phe329Ile)
2	g.218814686T>C	CA350594970	CYP27A1	c.1405T>C (p.Phe469Leu) n.2117T>C c.985T>C (p.Phe329Leu)
2	g.218814686T>G	CA350594966	CYP27A1	c.1405T>G (p.Phe469Val) n.2117T>G c.985T>G (p.Phe329Val)
2	g.218814687T>A	CA350594978	CYP27A1	c.1406T>A (p.Phe469Tyr) n.2118T>A c.986T>A (p.Phe329Tyr)
2	g.218814687T>C	CA350594986	CYP27A1	c.1406T>C (p.Phe469Ser) n.2118T>C c.986T>C (p.Phe329Ser)
2	g.218814687T>G	CA350594990	CYP27A1	c.1406T>G (p.Phe469Cys) n.2118T>G c.986T>G (p.Phe329Cys)
2	g.218814688T>A	CA350594991	CYP27A1	c.1407T>A (p.Phe469Leu) n.2119T>A c.987T>A (p.Phe329Leu)
2	g.218814688T>C	CA431414591	CYP27A1	c.1407T>C (p.Phe469=) n.2119T>C c.987T>C (p.Phe329=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.218814688T>G	CA350594992	CYP27A1	c.1407T>G (p.Phe469Leu) n.2119T>G c.987T>G (p.Phe329Leu)
2	g.218814688T=	CA1328929839	CYP27A1	c.1407T= (p.Phe469=) n.2119T= c.987T= (p.Phe329=)
2	g.218814689G>A	CA350594993	CYP27A1	c.1408G>A (p.Gly470Ser) n.2120G>A c.988G>A (p.Gly330Ser)
2	g.218814689G>C	CA350594994	CYP27A1	c.1408G>C (p.Gly470Arg) n.2120G>C c.988G>C (p.Gly330Arg)
2	g.218814689G>T	CA350594996	CYP27A1	c.1408G>T (p.Gly470Cys) n.2120G>T c.988G>T (p.Gly330Cys)
2	g.218814690G>A	CA350595001	CYP27A1	c.1409G>A (p.Gly470Asp) n.2121G>A c.989G>A (p.Gly330Asp)	gnomAD v4
2	g.218814690G>C	CA350595004	CYP27A1	c.1409G>C (p.Gly470Ala) n.2121G>C c.989G>C (p.Gly330Ala)
2	g.218814690G>T	CA350595006	CYP27A1	c.1409G>T (p.Gly470Val) n.2121G>T c.989G>T (p.Gly330Val)	ClinVar
2	g.218814691C>A	CA431414600	CYP27A1	c.1410C>A (p.Gly470=) n.2122C>A c.990C>A (p.Gly330=)
2	g.218814691C=	CA1328929840	CYP27A1	c.1410C= (p.Gly470=) n.2122C= c.990C= (p.Gly330=)
2	g.218814691C>G	CA431414601	CYP27A1	c.1410C>G (p.Gly470=) n.2122C>G c.990C>G (p.Gly330=)
2	g.218814691C>T	CA2112888	CYP27A1	c.1410C>T (p.Gly470=) n.2122C>T c.990C>T (p.Gly330=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.218814691_218814692del	CA2586971286	CYP27A1	c.1410_1411del (p.Tyr471TrpfsTer?) n.2122_2123del c.990_991del (p.Tyr331TrpfsTer?)
2	g.218814692T>A	CA350595011	CYP27A1	c.1411T>A (p.Tyr471Asn) n.2123T>A c.991T>A (p.Tyr331Asn)
2	g.218814692T>C	CA350595014	CYP27A1	c.1411T>C (p.Tyr471His) n.2123T>C c.991T>C (p.Tyr331His)
2	g.218814692T>G	CA350595013	CYP27A1	c.1411T>G (p.Tyr471Asp) n.2123T>G c.991T>G (p.Tyr331Asp)
2	g.218814693A=	CA1328929841	CYP27A1	c.1412A= (p.Tyr471=) n.2124A= c.992A= (p.Tyr331=)
2	g.218814693A>C	CA350595019	CYP27A1	c.1412A>C (p.Tyr471Ser) n.2124A>C c.992A>C (p.Tyr331Ser)
2	g.218814693A>G	CA2112889	CYP27A1	c.1412A>G (p.Tyr471Cys) n.2124A>G c.992A>G (p.Tyr331Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.218814693A>T	CA350595051	CYP27A1	c.1412A>T (p.Tyr471Phe) n.2124A>T c.992A>T (p.Tyr331Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814694T>A	CA350595054	CYP27A1	c.1413T>A (p.Tyr471Ter) n.2125T>A c.993T>A (p.Tyr331Ter)
2	g.218814694T>C	CA2112890	CYP27A1	c.1413T>C (p.Tyr471=) n.2125T>C c.993T>C (p.Tyr331=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814694T>G	CA350595061	CYP27A1	c.1413T>G (p.Tyr471Ter) n.2125T>G c.993T>G (p.Tyr331Ter)	dbSNP
2	g.218814694T=	CA1328929842	CYP27A1	c.1413T= (p.Tyr471=) n.2125T= c.993T= (p.Tyr331=)
2	g.218814695G>A	CA65835420	CYP27A1	c.1414G>A (p.Gly472Arg) n.2126G>A c.994G>A (p.Gly332Arg)	dbSNP
2	g.218814695G>C	CA350595062	CYP27A1	c.1414G>C (p.Gly472Arg) n.2126G>C c.994G>C (p.Gly332Arg)
2	g.218814695G=	CA1328929843	CYP27A1	c.1414G= (p.Gly472=) n.2126G= c.994G= (p.Gly332=)
2	g.218814695G>T	CA350595064	CYP27A1	c.1414G>T (p.Gly472Trp) n.2126G>T c.994G>T (p.Gly332Trp)
2	g.218814697_218814704del	CA2586971287	CYP27A1	c.1416_1423del (p.Val473LeufsTer?) n.2128_2135del c.996_1003del (p.Val333LeufsTer?)	ClinVar gnomAD v4
2	g.218814696G>A	CA350595068	CYP27A1	c.1415G>A (p.Gly472Glu) n.2127G>A c.995G>A (p.Gly332Glu)	ClinVar dbSNP
2	g.218814696G>C	CA345181	CYP27A1	c.1415G>C (p.Gly472Ala) n.2127G>C c.995G>C (p.Gly332Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814696G=	CA1328929844	CYP27A1	c.1415G= (p.Gly472=) n.2127G= c.995G= (p.Gly332=)
2	g.218814696G>T	CA350595065	CYP27A1	c.1415G>T (p.Gly472Val) n.2127G>T c.995G>T (p.Gly332Val)
2	g.218814697G>A	CA431414614	CYP27A1	c.1416G>A (p.Gly472=) n.2128G>A c.996G>A (p.Gly332=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.218814697G>C	CA431414616	CYP27A1	c.1416G>C (p.Gly472=) n.2128G>C c.996G>C (p.Gly332=)
2	g.218814697G=	CA1328929845	CYP27A1	c.1416G= (p.Gly472=) n.2128G= c.996G= (p.Gly332=)
2	g.218814697G>T	CA431414617	CYP27A1	c.1416G>T (p.Gly472=) n.2128G>T c.996G>T (p.Gly332=)	ClinVar
2	g.218814698G>A	CA350595078	CYP27A1	c.1417G>A (p.Val473Ile) n.2129G>A c.997G>A (p.Val333Ile)	gnomAD v4
2	g.218814698G>C	CA350595080	CYP27A1	c.1417G>C (p.Val473Leu) n.2129G>C c.997G>C (p.Val333Leu)
2	g.218814698G>T	CA350595083	CYP27A1	c.1417G>T (p.Val473Phe) n.2129G>T c.997G>T (p.Val333Phe)	gnomAD v4
2	g.218814699T>A	CA350595087	CYP27A1	c.1418T>A (p.Val473Asp) n.2130T>A c.998T>A (p.Val333Asp)
2	g.218814699T>C	CA350595089	CYP27A1	c.1418T>C (p.Val473Ala) n.2130T>C c.998T>C (p.Val333Ala)
2	g.218814699T>G	CA350595101	CYP27A1	c.1418T>G (p.Val473Gly) n.2130T>G c.998T>G (p.Val333Gly)
2	g.218814700C>A	CA431414629	CYP27A1	c.1419C>A (p.Val473=) n.2131C>A c.999C>A (p.Val333=)
2	g.218814700C=	CA1328929846	CYP27A1	c.1419C= (p.Val473=) n.2131C= c.999C= (p.Val333=)
2	g.218814700C>G	CA431414628	CYP27A1	c.1419C>G (p.Val473=) n.2131C>G c.999C>G (p.Val333=)	COSMIC
2	g.218814700C>T	CA2112891	CYP27A1	c.1419C>T (p.Val473=) n.2131C>T c.999C>T (p.Val333=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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)

Number of alleles fetched