Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.99768366_99768369del | CA2578955196 | CYP3A4 | c.659_662del (p.Phe220SerfsTer3) c.200_203del (p.Phe67SerfsTer3) c.512_515del (p.Phe171SerfsTer3) c.209_212del (p.Phe70SerfsTer3) | |
7 | g.99768367G>A | CA456690117 | CYP3A4 | c.657C>T (p.Phe219=) c.198C>T (p.Phe66=) c.510C>T (p.Phe170=) c.207C>T (p.Phe69=) | |
7 | g.99768367G>C | CA368370655 | CYP3A4 | c.657C>G (p.Phe219Leu) c.198C>G (p.Phe66Leu) c.510C>G (p.Phe170Leu) c.207C>G (p.Phe69Leu) | |
7 | g.99768367G>T | CA368370656 | CYP3A4 | c.657C>A (p.Phe219Leu) c.198C>A (p.Phe66Leu) c.510C>A (p.Phe170Leu) c.207C>A (p.Phe69Leu) | COSMIC |
7 | g.99768368A>C | CA368370658 | CYP3A4 | c.656T>G (p.Phe219Cys) c.197T>G (p.Phe66Cys) c.509T>G (p.Phe170Cys) c.206T>G (p.Phe69Cys) | |
7 | g.99768368A>G | CA368370663 | CYP3A4 | c.656T>C (p.Phe219Ser) c.197T>C (p.Phe66Ser) c.509T>C (p.Phe170Ser) c.206T>C (p.Phe69Ser) | |
7 | g.99768368A>T | CA368370661 | CYP3A4 | c.656T>A (p.Phe219Tyr) c.197T>A (p.Phe66Tyr) c.509T>A (p.Phe170Tyr) c.206T>A (p.Phe69Tyr) | |
7 | g.99768369A= | CA1729180861 | CYP3A4 | c.655T= (p.Phe219=) c.196T= (p.Phe66=) c.508T= (p.Phe170=) c.205T= (p.Phe69=) | |
7 | g.99768369A>C | CA368370665 | CYP3A4 | c.655T>G (p.Phe219Val) c.196T>G (p.Phe66Val) c.508T>G (p.Phe170Val) c.205T>G (p.Phe69Val) | |
7 | g.99768369A>G | CA4369685 | CYP3A4 | c.655T>C (p.Phe219Leu) c.196T>C (p.Phe66Leu) c.508T>C (p.Phe170Leu) c.205T>C (p.Phe69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768369A>T | CA368370668 | CYP3A4 | c.655T>A (p.Phe219Ile) c.196T>A (p.Phe66Ile) c.508T>A (p.Phe170Ile) c.205T>A (p.Phe69Ile) | |
7 | g.99768370T>A | CA456690118 | CYP3A4 | c.654A>T (p.Pro218=) c.195A>T (p.Pro65=) c.507A>T (p.Pro169=) c.204A>T (p.Pro68=) | |
7 | g.99768370T>C | CA456690120 | CYP3A4 | c.654A>G (p.Pro218=) c.195A>G (p.Pro65=) c.507A>G (p.Pro169=) c.204A>G (p.Pro68=) | |
7 | g.99768370T>G | CA456690119 | CYP3A4 | c.654A>C (p.Pro218=) c.195A>C (p.Pro65=) c.507A>C (p.Pro169=) c.204A>C (p.Pro68=) | |
7 | g.99768371G>A | CA368370671 | CYP3A4 | c.653C>T (p.Pro218Leu) c.194C>T (p.Pro65Leu) c.506C>T (p.Pro169Leu) c.203C>T (p.Pro68Leu) | COSMIC |
7 | g.99768371G>C | CA4369686 | CYP3A4 | c.653C>G (p.Pro218Arg) c.194C>G (p.Pro65Arg) c.506C>G (p.Pro169Arg) c.203C>G (p.Pro68Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768371G= | CA1729180862 | CYP3A4 | c.653C= (p.Pro218=) c.194C= (p.Pro65=) c.506C= (p.Pro169=) c.203C= (p.Pro68=) | |
7 | g.99768371G>T | CA368370675 | CYP3A4 | c.653C>A (p.Pro218Gln) c.194C>A (p.Pro65Gln) c.506C>A (p.Pro169Gln) c.203C>A (p.Pro68Gln) | |
7 | g.99768372G>A | CA368370678 | CYP3A4 | c.652C>T (p.Pro218Ser) c.193C>T (p.Pro65Ser) c.505C>T (p.Pro169Ser) c.202C>T (p.Pro68Ser) | |
7 | g.99768372G>C | CA368370679 | CYP3A4 | c.652C>G (p.Pro218Ala) c.193C>G (p.Pro65Ala) c.505C>G (p.Pro169Ala) c.202C>G (p.Pro68Ala) | |
7 | g.99768372G>T | CA368370682 | CYP3A4 | c.652C>A (p.Pro218Thr) c.193C>A (p.Pro65Thr) c.505C>A (p.Pro169Thr) c.202C>A (p.Pro68Thr) | dbSNP gnomAD v4 |
7 | g.99768373A>C | CA368370685 | CYP3A4 | c.651T>G (p.Asp217Glu) c.192T>G (p.Asp64Glu) c.504T>G (p.Asp168Glu) c.201T>G (p.Asp67Glu) | |
7 | g.99768373A>G | CA456690121 | CYP3A4 | c.651T>C (p.Asp217=) c.192T>C (p.Asp64=) c.504T>C (p.Asp168=) c.201T>C (p.Asp67=) | |
7 | g.99768373A>T | CA368370687 | CYP3A4 | c.651T>A (p.Asp217Glu) c.192T>A (p.Asp64Glu) c.504T>A (p.Asp168Glu) c.201T>A (p.Asp67Glu) | |
7 | g.99768374T>A | CA368370693 | CYP3A4 | c.650A>T (p.Asp217Val) c.191A>T (p.Asp64Val) c.503A>T (p.Asp168Val) c.200A>T (p.Asp67Val) | dbSNP gnomAD v4 |
7 | g.99768374T>C | CA368370695 | CYP3A4 | c.650A>G (p.Asp217Gly) c.191A>G (p.Asp64Gly) c.503A>G (p.Asp168Gly) c.200A>G (p.Asp67Gly) | |
7 | g.99768374T>G | CA368370690 | CYP3A4 | c.650A>C (p.Asp217Ala) c.191A>C (p.Asp64Ala) c.503A>C (p.Asp168Ala) c.200A>C (p.Asp67Ala) | |
7 | g.99768374T= | CA1729180863 | CYP3A4 | c.650A= (p.Asp217=) c.191A= (p.Asp64=) c.503A= (p.Asp168=) c.200A= (p.Asp67=) | |
7 | g.99768375C>A | CA368370698 | CYP3A4 | c.649G>T (p.Asp217Tyr) c.190G>T (p.Asp64Tyr) c.502G>T (p.Asp168Tyr) c.199G>T (p.Asp67Tyr) | |
7 | g.99768375C= | CA1729180864 | CYP3A4 | c.649G= (p.Asp217=) c.190G= (p.Asp64=) c.502G= (p.Asp168=) c.199G= (p.Asp67=) | |
7 | g.99768375C>G | CA368370700 | CYP3A4 | c.649G>C (p.Asp217His) c.190G>C (p.Asp64His) c.502G>C (p.Asp168His) c.199G>C (p.Asp67His) | |
7 | g.99768375C>T | CA368370702 | CYP3A4 | c.649G>A (p.Asp217Asn) c.190G>A (p.Asp64Asn) c.502G>A (p.Asp168Asn) c.199G>A (p.Asp67Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768376C>A | CA4369689 | CYP3A4 | c.648G>T (p.Leu216Phe) c.189G>T (p.Leu63Phe) c.501G>T (p.Leu167Phe) c.198G>T (p.Leu66Phe) | dbSNP ExAC gnomAD v2 |
7 | g.99768376C= | CA1729180866 | CYP3A4 | c.648G= (p.Leu216=) c.189G= (p.Leu63=) c.501G= (p.Leu167=) c.198G= (p.Leu66=) | |
7 | g.99768376C>G | CA4369688 | CYP3A4 | c.648G>C (p.Leu216Phe) c.189G>C (p.Leu63Phe) c.501G>C (p.Leu167Phe) c.198G>C (p.Leu66Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768376C>T | CA456690122 | CYP3A4 | c.648G>A (p.Leu216=) c.189G>A (p.Leu63=) c.501G>A (p.Leu167=) c.198G>A (p.Leu66=) | |
7 | g.99768376_99768379delinsCAAA | CA1729180865 | CYP3A4 | c.645_648delinsTTTG (p.Phe215=) c.186_189delinsTTTG (p.Phe62=) c.498_501delinsTTTG (p.Phe166=) c.195_198delinsTTTG (p.Phe65=) | |
7 | g.99768377A>C | CA368370710 | CYP3A4 | c.647T>G (p.Leu216Trp) c.188T>G (p.Leu63Trp) c.500T>G (p.Leu167Trp) c.197T>G (p.Leu66Trp) | |
7 | g.99768377A>G | CA368370711 | CYP3A4 | c.647T>C (p.Leu216Ser) c.188T>C (p.Leu63Ser) c.500T>C (p.Leu167Ser) c.197T>C (p.Leu66Ser) | |
7 | g.99768377A>T | CA368370714 | CYP3A4 | c.647T>A (p.Leu216Ter) c.188T>A (p.Leu63Ter) c.500T>A (p.Leu167Ter) c.197T>A (p.Leu66Ter) | |
7 | g.99768382dup | CA4369687 | CYP3A4 | c.647dup (p.Leu216PhefsTer19) c.188dup (p.Leu63PhefsTer19) c.500dup (p.Leu167PhefsTer19) c.197dup (p.Leu66PhefsTer19) c.647dup (p.Leu216PhefsTer18) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768380_99768382del | CA844514431 | CYP3A4 | c.645_647del (p.Phe215del) c.186_188del (p.Phe62del) c.498_500del (p.Phe166del) c.195_197del (p.Phe65del) | dbSNP |
7 | g.99768378A>C | CA368370716 | CYP3A4 | c.646T>G (p.Leu216Val) c.187T>G (p.Leu63Val) c.499T>G (p.Leu167Val) c.196T>G (p.Leu66Val) | |
7 | g.99768378A>G | CA456690123 | CYP3A4 | c.646T>C (p.Leu216=) c.187T>C (p.Leu63=) c.499T>C (p.Leu167=) c.196T>C (p.Leu66=) | dbSNP |
7 | g.99768378A>T | CA368370717 | CYP3A4 | c.646T>A (p.Leu216Met) c.187T>A (p.Leu63Met) c.499T>A (p.Leu167Met) c.196T>A (p.Leu66Met) | |
7 | g.99768379A>C | CA368370720 | CYP3A4 | c.645T>G (p.Phe215Leu) c.186T>G (p.Phe62Leu) c.498T>G (p.Phe166Leu) c.195T>G (p.Phe65Leu) | |
7 | g.99768379A>G | CA456690124 | CYP3A4 | c.645T>C (p.Phe215=) c.186T>C (p.Phe62=) c.498T>C (p.Phe166=) c.195T>C (p.Phe65=) | |
7 | g.99768379A>T | CA368370722 | CYP3A4 | c.645T>A (p.Phe215Leu) c.186T>A (p.Phe62Leu) c.498T>A (p.Phe166Leu) c.195T>A (p.Phe65Leu) | |
7 | g.99768380A>C | CA368370728 | CYP3A4 | c.644T>G (p.Phe215Cys) c.185T>G (p.Phe62Cys) c.497T>G (p.Phe166Cys) c.194T>G (p.Phe65Cys) | |
7 | g.99768380A>G | CA368370726 | CYP3A4 | c.644T>C (p.Phe215Ser) c.185T>C (p.Phe62Ser) c.497T>C (p.Phe166Ser) c.194T>C (p.Phe65Ser) | |
7 | g.99768380A>T | CA368370725 | CYP3A4 | c.644T>A (p.Phe215Tyr) c.185T>A (p.Phe62Tyr) c.497T>A (p.Phe166Tyr) c.194T>A (p.Phe65Tyr) | |
7 | g.99768381A>C | CA368370730 | CYP3A4 | c.643T>G (p.Phe215Val) c.184T>G (p.Phe62Val) c.496T>G (p.Phe166Val) c.193T>G (p.Phe65Val) | |
7 | g.99768381A>G | CA368370732 | CYP3A4 | c.643T>C (p.Phe215Leu) c.184T>C (p.Phe62Leu) c.496T>C (p.Phe166Leu) c.193T>C (p.Phe65Leu) | |
7 | g.99768381A>T | CA368370734 | CYP3A4 | c.643T>A (p.Phe215Ile) c.184T>A (p.Phe62Ile) c.496T>A (p.Phe166Ile) c.193T>A (p.Phe65Ile) | |
7 | g.99768382A>C | CA368370736 | CYP3A4 | c.642T>G (p.Asp214Glu) c.183T>G (p.Asp61Glu) c.495T>G (p.Asp165Glu) c.192T>G (p.Asp64Glu) | |
7 | g.99768382A>G | CA456690125 | CYP3A4 | c.642T>C (p.Asp214=) c.183T>C (p.Asp61=) c.495T>C (p.Asp165=) c.192T>C (p.Asp64=) | gnomAD v4 |
7 | g.99768382A>T | CA368370738 | CYP3A4 | c.642T>A (p.Asp214Glu) c.183T>A (p.Asp61Glu) c.495T>A (p.Asp165Glu) c.192T>A (p.Asp64Glu) | |
7 | g.99768383T>A | CA368370741 | CYP3A4 | c.641A>T (p.Asp214Val) c.182A>T (p.Asp61Val) c.494A>T (p.Asp165Val) c.191A>T (p.Asp64Val) | |
7 | g.99768383T>C | CA4369690 | CYP3A4 | c.641A>G (p.Asp214Gly) c.182A>G (p.Asp61Gly) c.494A>G (p.Asp165Gly) c.191A>G (p.Asp64Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768383T>G | CA368370745 | CYP3A4 | c.641A>C (p.Asp214Ala) c.182A>C (p.Asp61Ala) c.494A>C (p.Asp165Ala) c.191A>C (p.Asp64Ala) | |
7 | g.99768383T= | CA1729180867 | CYP3A4 | c.641A= (p.Asp214=) c.182A= (p.Asp61=) c.494A= (p.Asp165=) c.191A= (p.Asp64=) | |
7 | g.99768384C>A | CA368370748 | CYP3A4 | c.640G>T (p.Asp214Tyr) c.181G>T (p.Asp61Tyr) c.493G>T (p.Asp165Tyr) c.190G>T (p.Asp64Tyr) | |
7 | g.99768384C= | CA1729180868 | CYP3A4 | c.640G= (p.Asp214=) c.181G= (p.Asp61=) c.493G= (p.Asp165=) c.190G= (p.Asp64=) | |
7 | g.99768384C>G | CA368370750 | CYP3A4 | c.640G>C (p.Asp214His) c.181G>C (p.Asp61His) c.493G>C (p.Asp165His) c.190G>C (p.Asp64His) | |
7 | g.99768384C>T | CA163153374 | CYP3A4 | c.640G>A (p.Asp214Asn) c.181G>A (p.Asp61Asn) c.493G>A (p.Asp165Asn) c.190G>A (p.Asp64Asn) | dbSNP |
7 | g.99768385A= | CA1729180869 | CYP3A4 | c.639T= (p.Phe213=) c.180T= (p.Phe60=) c.492T= (p.Phe164=) c.189T= (p.Phe63=) | |
7 | g.99768385A>C | CA368370753 | CYP3A4 | c.639T>G (p.Phe213Leu) c.180T>G (p.Phe60Leu) c.492T>G (p.Phe164Leu) c.189T>G (p.Phe63Leu) | |
7 | g.99768385A>G | CA456690126 | CYP3A4 | c.639T>C (p.Phe213=) c.180T>C (p.Phe60=) c.492T>C (p.Phe164=) c.189T>C (p.Phe63=) | dbSNP |
7 | g.99768385A>T | CA368370755 | CYP3A4 | c.639T>A (p.Phe213Leu) c.180T>A (p.Phe60Leu) c.492T>A (p.Phe164Leu) c.189T>A (p.Phe63Leu) | |
7 | g.99768387del | CA2578955197 | CYP3A4 | c.639del (p.Phe213LeufsTer11) c.180del (p.Phe60LeufsTer11) c.492del (p.Phe164LeufsTer11) c.189del (p.Phe63LeufsTer11) | gnomAD v4 |
7 | g.99768386A= | CA1729180870 | CYP3A4 | c.638T= (p.Phe213=) c.179T= (p.Phe60=) c.491T= (p.Phe164=) c.188T= (p.Phe63=) | |
7 | g.99768386A>C | CA368370757 | CYP3A4 | c.638T>G (p.Phe213Cys) c.179T>G (p.Phe60Cys) c.491T>G (p.Phe164Cys) c.188T>G (p.Phe63Cys) | |
7 | g.99768386A>G | CA368370762 | CYP3A4 | c.638T>C (p.Phe213Ser) c.179T>C (p.Phe60Ser) c.491T>C (p.Phe164Ser) c.188T>C (p.Phe63Ser) | |
7 | g.99768386A>T | CA368370760 | CYP3A4 | c.638T>A (p.Phe213Tyr) c.179T>A (p.Phe60Tyr) c.491T>A (p.Phe164Tyr) c.188T>A (p.Phe63Tyr) | dbSNP gnomAD v2 |
7 | g.99768387A>C | CA368370766 | CYP3A4 | c.637T>G (p.Phe213Val) c.178T>G (p.Phe60Val) c.490T>G (p.Phe164Val) c.187T>G (p.Phe63Val) | gnomAD v4 |
7 | g.99768387A>G | CA368370771 | CYP3A4 | c.637T>C (p.Phe213Leu) c.178T>C (p.Phe60Leu) c.490T>C (p.Phe164Leu) c.187T>C (p.Phe63Leu) | |
7 | g.99768387A>T | CA368370768 | CYP3A4 | c.637T>A (p.Phe213Ile) c.178T>A (p.Phe60Ile) c.490T>A (p.Phe164Ile) c.187T>A (p.Phe63Ile) | COSMIC |
7 | g.99768388T>A | CA368370774 | CYP3A4 | c.636A>T (p.Arg212Ser) c.177A>T (p.Arg59Ser) c.489A>T (p.Arg163Ser) c.186A>T (p.Arg62Ser) | |
7 | g.99768388T>C | CA456690127 | CYP3A4 | c.636A>G (p.Arg212=) c.177A>G (p.Arg59=) c.489A>G (p.Arg163=) c.186A>G (p.Arg62=) | |
7 | g.99768388T>G | CA368370776 | CYP3A4 | c.636A>C (p.Arg212Ser) c.177A>C (p.Arg59Ser) c.489A>C (p.Arg163Ser) c.186A>C (p.Arg62Ser) | |
7 | g.99768389C>A | CA368370779 | CYP3A4 | c.635G>T (p.Arg212Ile) c.176G>T (p.Arg59Ile) c.488G>T (p.Arg163Ile) c.185G>T (p.Arg62Ile) | COSMIC |
7 | g.99768389C>G | CA368370783 | CYP3A4 | c.635G>C (p.Arg212Thr) c.176G>C (p.Arg59Thr) c.488G>C (p.Arg163Thr) c.185G>C (p.Arg62Thr) | |
7 | g.99768389C>T | CA368370781 | CYP3A4 | c.635G>A (p.Arg212Lys) c.176G>A (p.Arg59Lys) c.488G>A (p.Arg163Lys) c.185G>A (p.Arg62Lys) | |
7 | g.99768390T>A | CA368370786 | CYP3A4 | c.634A>T (p.Arg212Ter) c.175A>T (p.Arg59Ter) c.487A>T (p.Arg163Ter) c.184A>T (p.Arg62Ter) | |
7 | g.99768390T>C | CA368370788 | CYP3A4 | c.634A>G (p.Arg212Gly) c.175A>G (p.Arg59Gly) c.487A>G (p.Arg163Gly) c.184A>G (p.Arg62Gly) | |
7 | g.99768390T>G | CA456690128 | CYP3A4 | c.634A>C (p.Arg212=) c.175A>C (p.Arg59=) c.487A>C (p.Arg163=) c.184A>C (p.Arg62=) | |
7 | g.99768391T>A | CA368370790 | CYP3A4 | c.633A>T (p.Leu211Phe) c.174A>T (p.Leu58Phe) c.486A>T (p.Leu162Phe) c.183A>T (p.Leu61Phe) | |
7 | g.99768391T>C | CA456690129 | CYP3A4 | c.633A>G (p.Leu211=) c.174A>G (p.Leu58=) c.486A>G (p.Leu162=) c.183A>G (p.Leu61=) | |
7 | g.99768391T>G | CA368370792 | CYP3A4 | c.633A>C (p.Leu211Phe) c.174A>C (p.Leu58Phe) c.486A>C (p.Leu162Phe) c.183A>C (p.Leu61Phe) | gnomAD v4 |
7 | g.99768392A>C | CA368370793 | CYP3A4 | c.632T>G (p.Leu211Ter) c.173T>G (p.Leu58Ter) c.485T>G (p.Leu162Ter) c.182T>G (p.Leu61Ter) | |
7 | g.99768392A>G | CA368370794 | CYP3A4 | c.632T>C (p.Leu211Ser) c.173T>C (p.Leu58Ser) c.485T>C (p.Leu162Ser) c.182T>C (p.Leu61Ser) | |
7 | g.99768392A>T | CA368370796 | CYP3A4 | c.632T>A (p.Leu211Ter) c.173T>A (p.Leu58Ter) c.485T>A (p.Leu162Ter) c.182T>A (p.Leu61Ter) | |
7 | g.99768393A>C | CA368370800 | CYP3A4 | c.631T>G (p.Leu211Val) c.172T>G (p.Leu58Val) c.484T>G (p.Leu162Val) c.181T>G (p.Leu61Val) | |
7 | g.99768393A>G | CA456690130 | CYP3A4 | c.631T>C (p.Leu211=) c.172T>C (p.Leu58=) c.484T>C (p.Leu162=) c.181T>C (p.Leu61=) | |
7 | g.99768393A>T | CA368370798 | CYP3A4 | c.631T>A (p.Leu211Ile) c.172T>A (p.Leu58Ile) c.484T>A (p.Leu162Ile) c.181T>A (p.Leu61Ile) | |
7 | g.99768394A= | CA1729180871 | CYP3A4 | c.630T= (p.Leu210=) c.171T= (p.Leu57=) c.483T= (p.Leu161=) c.180T= (p.Leu60=) | |
7 | g.99768394A>C | CA456690131 | CYP3A4 | c.630T>G (p.Leu210=) c.171T>G (p.Leu57=) c.483T>G (p.Leu161=) c.180T>G (p.Leu60=) | |
7 | g.99768394A>G | CA456690132 | CYP3A4 | c.630T>C (p.Leu210=) c.171T>C (p.Leu57=) c.483T>C (p.Leu161=) c.180T>C (p.Leu60=) | |
7 | g.99768394A>T | CA456690133 | CYP3A4 | c.630T>A (p.Leu210=) c.171T>A (p.Leu57=) c.483T>A (p.Leu161=) c.180T>A (p.Leu60=) | |
7 | g.99768395A= | CA1729180872 | CYP3A4 | c.629T= (p.Leu210=) c.170T= (p.Leu57=) c.482T= (p.Leu161=) c.179T= (p.Leu60=) | |
7 | g.99768395A>C | CA368370802 | CYP3A4 | c.629T>G (p.Leu210Arg) c.170T>G (p.Leu57Arg) c.482T>G (p.Leu161Arg) c.179T>G (p.Leu60Arg) | |
7 | g.99768395A>G | CA368370809 | CYP3A4 | c.629T>C (p.Leu210Pro) c.170T>C (p.Leu57Pro) c.482T>C (p.Leu161Pro) c.179T>C (p.Leu60Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768395A>T | CA368370811 | CYP3A4 | c.629T>A (p.Leu210His) c.170T>A (p.Leu57His) c.482T>A (p.Leu161His) c.179T>A (p.Leu60His) | |
7 | g.99768395_99768396insTATACA | CA1729180873 | CYP3A4 | c.629_630insGTATAT (p.Leu210_Leu211insTyrIle) c.170_171insGTATAT (p.Leu57_Leu58insTyrIle) c.482_483insGTATAT (p.Leu161_Leu162insTyrIle) c.179_180insGTATAT (p.Leu60_Leu61insTyrIle) | dbSNP |
7 | g.99768396G>A | CA368370815 | CYP3A4 | c.628C>T (p.Leu210Phe) c.169C>T (p.Leu57Phe) c.481C>T (p.Leu161Phe) c.178C>T (p.Leu60Phe) | |
7 | g.99768396G>C | CA368370817 | CYP3A4 | c.628C>G (p.Leu210Val) c.169C>G (p.Leu57Val) c.481C>G (p.Leu161Val) c.178C>G (p.Leu60Val) | |
7 | g.99768396G>T | CA368370819 | CYP3A4 | c.628C>A (p.Leu210Ile) c.169C>A (p.Leu57Ile) c.481C>A (p.Leu161Ile) c.178C>A (p.Leu60Ile) | |
7 | g.99768396_99768397delinsGC | CA1729180875 | CYP3A4 | c.627_628delinsGC (p.Lys209=) c.168_169delinsGC (p.Lys56=) c.480_481delinsGC (p.Lys160=) c.177_178delinsGC (p.Lys59=) | |
7 | g.99768396_99768399delinsGCTT | CA1729180874 | CYP3A4 | c.625_628delinsAAGC (p.Lys209=) c.166_169delinsAAGC (p.Lys56=) c.478_481delinsAAGC (p.Lys160=) c.175_178delinsAAGC (p.Lys59=) | |
7 | g.99768397del | CA1729180876 | CYP3A4 | c.627del (p.Lys209AsnfsTer3) c.168del (p.Lys56AsnfsTer3) c.480del (p.Lys160AsnfsTer3) c.177del (p.Lys59AsnfsTer3) | dbSNP |
7 | g.99768397C>A | CA368370821 | CYP3A4 | c.627G>T (p.Lys209Asn) c.168G>T (p.Lys56Asn) c.480G>T (p.Lys160Asn) c.177G>T (p.Lys59Asn) | dbSNP |
7 | g.99768397C= | CA1729180877 | CYP3A4 | c.627G= (p.Lys209=) c.168G= (p.Lys56=) c.480G= (p.Lys160=) c.177G= (p.Lys59=) | |
7 | g.99768397C>G | CA368370825 | CYP3A4 | c.627G>C (p.Lys209Asn) c.168G>C (p.Lys56Asn) c.480G>C (p.Lys160Asn) c.177G>C (p.Lys59Asn) | |
7 | g.99768397C>T | CA4369691 | CYP3A4 | c.627G>A (p.Lys209=) c.168G>A (p.Lys56=) c.480G>A (p.Lys160=) c.177G>A (p.Lys59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768400_99768402del | CA844514461 | CYP3A4 | c.625_627del (p.Lys209del) c.166_168del (p.Lys56del) c.478_480del (p.Lys160del) c.175_177del (p.Lys59del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768398T>A | CA368370828 | CYP3A4 | c.626A>T (p.Lys209Met) c.167A>T (p.Lys56Met) c.479A>T (p.Lys160Met) c.176A>T (p.Lys59Met) | |
7 | g.99768398T>C | CA368370830 | CYP3A4 | c.626A>G (p.Lys209Arg) c.167A>G (p.Lys56Arg) c.479A>G (p.Lys160Arg) c.176A>G (p.Lys59Arg) | |
7 | g.99768398T>G | CA368370832 | CYP3A4 | c.626A>C (p.Lys209Thr) c.167A>C (p.Lys56Thr) c.479A>C (p.Lys160Thr) c.176A>C (p.Lys59Thr) | |
7 | g.99768399T>A | CA368370835 | CYP3A4 | c.625A>T (p.Lys209Ter) c.166A>T (p.Lys56Ter) c.478A>T (p.Lys160Ter) c.175A>T (p.Lys59Ter) | |
7 | g.99768399T>C | CA368370837 | CYP3A4 | c.625A>G (p.Lys209Glu) c.166A>G (p.Lys56Glu) c.478A>G (p.Lys160Glu) c.175A>G (p.Lys59Glu) | |
7 | g.99768399T>G | CA368370839 | CYP3A4 | c.625A>C (p.Lys209Gln) c.166A>C (p.Lys56Gln) c.478A>C (p.Lys160Gln) c.175A>C (p.Lys59Gln) | |
7 | g.99768400C>A | CA368370842 | CYP3A4 | c.624G>T (p.Lys208Asn) c.165G>T (p.Lys55Asn) c.477G>T (p.Lys159Asn) c.174G>T (p.Lys58Asn) | |
7 | g.99768400C= | CA1729180878 | CYP3A4 | c.624G= (p.Lys208=) c.165G= (p.Lys55=) c.477G= (p.Lys159=) c.174G= (p.Lys58=) | |
7 | g.99768400C>G | CA368370844 | CYP3A4 | c.624G>C (p.Lys208Asn) c.165G>C (p.Lys55Asn) c.477G>C (p.Lys159Asn) c.174G>C (p.Lys58Asn) | COSMIC |
7 | g.99768400C>T | CA456690134 | CYP3A4 | c.624G>A (p.Lys208=) c.165G>A (p.Lys55=) c.477G>A (p.Lys159=) c.174G>A (p.Lys58=) | COSMIC |
7 | g.99768400_99768401insAGTGA | CA1729180880 | CYP3A4 | c.623_624insTCACT (p.Lys208AsnfsTer3) c.164_165insTCACT (p.Lys55AsnfsTer3) c.476_477insTCACT (p.Lys159AsnfsTer3) c.173_174insTCACT (p.Lys58AsnfsTer3) | dbSNP |
7 | g.99768401T>A | CA368370846 | CYP3A4 | c.623A>T (p.Lys208Met) c.164A>T (p.Lys55Met) c.476A>T (p.Lys159Met) c.173A>T (p.Lys58Met) | |
7 | g.99768401T>C | CA368370848 | CYP3A4 | c.623A>G (p.Lys208Arg) c.164A>G (p.Lys55Arg) c.476A>G (p.Lys159Arg) c.173A>G (p.Lys58Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768401T>G | CA368370851 | CYP3A4 | c.623A>C (p.Lys208Thr) c.164A>C (p.Lys55Thr) c.476A>C (p.Lys159Thr) c.173A>C (p.Lys58Thr) | |
7 | g.99768401T= | CA1729180879 | CYP3A4 | c.623A= (p.Lys208=) c.164A= (p.Lys55=) c.476A= (p.Lys159=) c.173A= (p.Lys58=) | |
7 | g.99768402T>A | CA368370852 | CYP3A4 | c.622A>T (p.Lys208Ter) c.163A>T (p.Lys55Ter) c.475A>T (p.Lys159Ter) c.172A>T (p.Lys58Ter) | gnomAD v4 |
7 | g.99768402T>C | CA368370857 | CYP3A4 | c.622A>G (p.Lys208Glu) c.163A>G (p.Lys55Glu) c.475A>G (p.Lys159Glu) c.172A>G (p.Lys58Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768402T>G | CA368370854 | CYP3A4 | c.622A>C (p.Lys208Gln) c.163A>C (p.Lys55Gln) c.475A>C (p.Lys159Gln) c.172A>C (p.Lys58Gln) | gnomAD v4 |
7 | g.99768402T= | CA1729180883 | CYP3A4 | c.622A= (p.Lys208=) c.163A= (p.Lys55=) c.475A= (p.Lys159=) c.172A= (p.Lys58=) | |
7 | g.99768403G>A | CA456690135 | CYP3A4 | c.621C>T (p.Thr207=) c.162C>T (p.Thr54=) c.474C>T (p.Thr158=) c.171C>T (p.Thr57=) | |
7 | g.99768403G>C | CA456690136 | CYP3A4 | c.621C>G (p.Thr207=) c.162C>G (p.Thr54=) c.474C>G (p.Thr158=) c.171C>G (p.Thr57=) | |
7 | g.99768403G= | CA1729180885 | CYP3A4 | c.621C= (p.Thr207=) c.162C= (p.Thr54=) c.474C= (p.Thr158=) c.171C= (p.Thr57=) | |
7 | g.99768403G>T | CA456690137 | CYP3A4 | c.621C>A (p.Thr207=) c.162C>A (p.Thr54=) c.474C>A (p.Thr158=) c.171C>A (p.Thr57=) | dbSNP |
7 | g.99768404G>A | CA4369693 | CYP3A4 | c.620C>T (p.Thr207Ile) c.161C>T (p.Thr54Ile) c.473C>T (p.Thr158Ile) c.170C>T (p.Thr57Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768404G>C | CA368370861 | CYP3A4 | c.620C>G (p.Thr207Ser) c.161C>G (p.Thr54Ser) c.473C>G (p.Thr158Ser) c.170C>G (p.Thr57Ser) | |
7 | g.99768404G= | CA1729180886 | CYP3A4 | c.620C= (p.Thr207=) c.161C= (p.Thr54=) c.473C= (p.Thr158=) c.170C= (p.Thr57=) | |
7 | g.99768404G>T | CA4369692 | CYP3A4 | c.620C>A (p.Thr207Asn) c.161C>A (p.Thr54Asn) c.473C>A (p.Thr158Asn) c.170C>A (p.Thr57Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768405T>A | CA368370865 | CYP3A4 | c.619A>T (p.Thr207Ser) c.160A>T (p.Thr54Ser) c.472A>T (p.Thr158Ser) c.169A>T (p.Thr57Ser) | |
7 | g.99768405T>C | CA368370868 | CYP3A4 | c.619A>G (p.Thr207Ala) c.160A>G (p.Thr54Ala) c.472A>G (p.Thr158Ala) c.169A>G (p.Thr57Ala) | |
7 | g.99768405T>G | CA368370870 | CYP3A4 | c.619A>C (p.Thr207Pro) c.160A>C (p.Thr54Pro) c.472A>C (p.Thr158Pro) c.169A>C (p.Thr57Pro) | |
7 | g.99768406G>A | CA456690138 | CYP3A4 | c.618C>T (p.Asn206=) c.159C>T (p.Asn53=) c.471C>T (p.Asn157=) c.168C>T (p.Asn56=) | |
7 | g.99768406G>C | CA368370872 | CYP3A4 | c.618C>G (p.Asn206Lys) c.159C>G (p.Asn53Lys) c.471C>G (p.Asn157Lys) c.168C>G (p.Asn56Lys) | |
7 | g.99768406G>T | CA368370874 | CYP3A4 | c.618C>A (p.Asn206Lys) c.159C>A (p.Asn53Lys) c.471C>A (p.Asn157Lys) c.168C>A (p.Asn56Lys) | |
7 | g.99768407T>A | CA368370878 | CYP3A4 | c.617A>T (p.Asn206Ile) c.158A>T (p.Asn53Ile) c.470A>T (p.Asn157Ile) c.167A>T (p.Asn56Ile) | |
7 | g.99768407T>C | CA368370879 | CYP3A4 | c.617A>G (p.Asn206Ser) c.158A>G (p.Asn53Ser) c.470A>G (p.Asn157Ser) c.167A>G (p.Asn56Ser) | |
7 | g.99768407T>G | CA368370882 | CYP3A4 | c.617A>C (p.Asn206Thr) c.158A>C (p.Asn53Thr) c.470A>C (p.Asn157Thr) c.167A>C (p.Asn56Thr) | |
7 | g.99768408T>A | CA163153380 | CYP3A4 | c.616A>T (p.Asn206Tyr) c.157A>T (p.Asn53Tyr) c.469A>T (p.Asn157Tyr) c.166A>T (p.Asn56Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768408T>C | CA368370887 | CYP3A4 | c.616A>G (p.Asn206Asp) c.157A>G (p.Asn53Asp) c.469A>G (p.Asn157Asp) c.166A>G (p.Asn56Asp) | |
7 | g.99768408T>G | CA368370884 | CYP3A4 | c.616A>C (p.Asn206His) c.157A>C (p.Asn53His) c.469A>C (p.Asn157His) c.166A>C (p.Asn56His) | |
7 | g.99768408T= | CA1729180887 | CYP3A4 | c.616A= (p.Asn206=) c.157A= (p.Asn53=) c.469A= (p.Asn157=) c.166A= (p.Asn56=) | |
7 | g.99768409T>A | CA368370890 | CYP3A4 | c.615A>T (p.Glu205Asp) c.156A>T (p.Glu52Asp) c.468A>T (p.Glu156Asp) c.165A>T (p.Glu55Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768409T>C | CA456690139 | CYP3A4 | c.615A>G (p.Glu205=) c.156A>G (p.Glu52=) c.468A>G (p.Glu156=) c.165A>G (p.Glu55=) | |
7 | g.99768409T>G | CA368370892 | CYP3A4 | c.615A>C (p.Glu205Asp) c.156A>C (p.Glu52Asp) c.468A>C (p.Glu156Asp) c.165A>C (p.Glu55Asp) | |
7 | g.99768409T= | CA1729180888 | CYP3A4 | c.615A= (p.Glu205=) c.156A= (p.Glu52=) c.468A= (p.Glu156=) c.165A= (p.Glu55=) | |
7 | g.99768410T>A | CA368370895 | CYP3A4 | c.614A>T (p.Glu205Val) c.155A>T (p.Glu52Val) c.467A>T (p.Glu156Val) c.164A>T (p.Glu55Val) | |
7 | g.99768410T>C | CA368370898 | CYP3A4 | c.614A>G (p.Glu205Gly) c.155A>G (p.Glu52Gly) c.467A>G (p.Glu156Gly) c.164A>G (p.Glu55Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.99768410T>G | CA368370900 | CYP3A4 | c.614A>C (p.Glu205Ala) c.155A>C (p.Glu52Ala) c.467A>C (p.Glu156Ala) c.164A>C (p.Glu55Ala) | |
7 | g.99768410T= | CA1729180890 | CYP3A4 | c.614A= (p.Glu205=) c.155A= (p.Glu52=) c.467A= (p.Glu156=) c.164A= (p.Glu55=) | |
7 | g.99768410_99768411delinsTC | CA1729180889 | CYP3A4 | c.613_614delinsGA (p.Glu205=) c.154_155delinsGA (p.Glu52=) c.466_467delinsGA (p.Glu156=) c.163_164delinsGA (p.Glu55=) | |
7 | g.99768411C>A | CA368370903 | CYP3A4 | c.613G>T (p.Glu205Ter) c.154G>T (p.Glu52Ter) c.466G>T (p.Glu156Ter) c.163G>T (p.Glu55Ter) | |
7 | g.99768411C= | CA1729180891 | CYP3A4 | c.613G= (p.Glu205=) c.154G= (p.Glu52=) c.466G= (p.Glu156=) c.163G= (p.Glu55=) | |
7 | g.99768411C>G | CA368370905 | CYP3A4 | c.613G>C (p.Glu205Gln) c.154G>C (p.Glu52Gln) c.466G>C (p.Glu156Gln) c.163G>C (p.Glu55Gln) | |
7 | g.99768411C>T | CA368370907 | CYP3A4 | c.613G>A (p.Glu205Lys) c.154G>A (p.Glu52Lys) c.466G>A (p.Glu156Lys) c.163G>A (p.Glu55Lys) | dbSNP COSMIC |
7 | g.99768412del | CA163153382 | CYP3A4 | c.613del (p.Glu205LysfsTer7) c.154del (p.Glu52LysfsTer7) c.466del (p.Glu156LysfsTer7) c.163del (p.Glu55LysfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768412C>A | CA456690140 | CYP3A4 | c.612G>T (p.Val204=) c.153G>T (p.Val51=) c.465G>T (p.Val155=) c.162G>T (p.Val54=) | |
7 | g.99768412C>G | CA456690142 | CYP3A4 | c.612G>C (p.Val204=) c.153G>C (p.Val51=) c.465G>C (p.Val155=) c.162G>C (p.Val54=) | |
7 | g.99768412C>T | CA456690141 | CYP3A4 | c.612G>A (p.Val204=) c.153G>A (p.Val51=) c.465G>A (p.Val155=) c.162G>A (p.Val54=) | |
7 | g.99768413A>C | CA368370909 | CYP3A4 | c.611T>G (p.Val204Gly) c.152T>G (p.Val51Gly) c.464T>G (p.Val155Gly) c.161T>G (p.Val54Gly) | COSMIC |
7 | g.99768413A>G | CA368370911 | CYP3A4 | c.611T>C (p.Val204Ala) c.152T>C (p.Val51Ala) c.464T>C (p.Val155Ala) c.161T>C (p.Val54Ala) | |
7 | g.99768413A>T | CA368370913 | CYP3A4 | c.611T>A (p.Val204Glu) c.152T>A (p.Val51Glu) c.464T>A (p.Val155Glu) c.161T>A (p.Val54Glu) | |
7 | g.99768414C>A | CA368370920 | CYP3A4 | c.610G>T (p.Val204Leu) c.151G>T (p.Val51Leu) c.463G>T (p.Val155Leu) c.160G>T (p.Val54Leu) | |
7 | g.99768414C>G | CA368370918 | CYP3A4 | c.610G>C (p.Val204Leu) c.151G>C (p.Val51Leu) c.463G>C (p.Val155Leu) c.160G>C (p.Val54Leu) | |
7 | g.99768414C>T | CA368370916 | CYP3A4 | c.610G>A (p.Val204Met) c.151G>A (p.Val51Met) c.463G>A (p.Val155Met) c.160G>A (p.Val54Met) | |
7 | g.99768415A= | CA1729180892 | CYP3A4 | c.609T= (p.Phe203=) c.150T= (p.Phe50=) c.462T= (p.Phe154=) c.159T= (p.Phe53=) | |
7 | g.99768415A>C | CA368370923 | CYP3A4 | c.609T>G (p.Phe203Leu) c.150T>G (p.Phe50Leu) c.462T>G (p.Phe154Leu) c.159T>G (p.Phe53Leu) | |
7 | g.99768415A>G | CA456690143 | CYP3A4 | c.609T>C (p.Phe203=) c.150T>C (p.Phe50=) c.462T>C (p.Phe154=) c.159T>C (p.Phe53=) | dbSNP |
7 | g.99768415A>T | CA368370925 | CYP3A4 | c.609T>A (p.Phe203Leu) c.150T>A (p.Phe50Leu) c.462T>A (p.Phe154Leu) c.159T>A (p.Phe53Leu) | |
7 | g.99768416A>C | CA368370928 | CYP3A4 | c.608T>G (p.Phe203Cys) c.149T>G (p.Phe50Cys) c.461T>G (p.Phe154Cys) c.158T>G (p.Phe53Cys) | |
7 | g.99768416A>G | CA368370930 | CYP3A4 | c.608T>C (p.Phe203Ser) c.149T>C (p.Phe50Ser) c.461T>C (p.Phe154Ser) c.158T>C (p.Phe53Ser) | |
7 | g.99768416A>T | CA368370933 | CYP3A4 | c.608T>A (p.Phe203Tyr) c.149T>A (p.Phe50Tyr) c.461T>A (p.Phe154Tyr) c.158T>A (p.Phe53Tyr) | |
7 | g.99768417A>C | CA368370934 | CYP3A4 | c.607T>G (p.Phe203Val) c.148T>G (p.Phe50Val) c.460T>G (p.Phe154Val) c.157T>G (p.Phe53Val) | |
7 | g.99768417A>G | CA368370936 | CYP3A4 | c.607T>C (p.Phe203Leu) c.148T>C (p.Phe50Leu) c.460T>C (p.Phe154Leu) c.157T>C (p.Phe53Leu) | |
7 | g.99768417A>T | CA368370939 | CYP3A4 | c.607T>A (p.Phe203Ile) c.148T>A (p.Phe50Ile) c.460T>A (p.Phe154Ile) c.157T>A (p.Phe53Ile) | |
7 | g.99768418G>A | CA456690144 | CYP3A4 | c.606C>T (p.Pro202=) c.147C>T (p.Pro49=) c.459C>T (p.Pro153=) c.156C>T (p.Pro52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768418G>C | CA456690145 | CYP3A4 | c.606C>G (p.Pro202=) c.147C>G (p.Pro49=) c.459C>G (p.Pro153=) c.156C>G (p.Pro52=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768418G= | CA1729180893 | CYP3A4 | c.606C= (p.Pro202=) c.147C= (p.Pro49=) c.459C= (p.Pro153=) c.156C= (p.Pro52=) | |
7 | g.99768418G>T | CA456690146 | CYP3A4 | c.606C>A (p.Pro202=) c.147C>A (p.Pro49=) c.459C>A (p.Pro153=) c.156C>A (p.Pro52=) | |
7 | g.99768419G>A | CA163153385 | CYP3A4 | c.605C>T (p.Pro202Leu) c.146C>T (p.Pro49Leu) c.458C>T (p.Pro153Leu) c.155C>T (p.Pro52Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768419G>C | CA368370944 | CYP3A4 | c.605C>G (p.Pro202Arg) c.146C>G (p.Pro49Arg) c.458C>G (p.Pro153Arg) c.155C>G (p.Pro52Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768419G= | CA1729180894 | CYP3A4 | c.605C= (p.Pro202=) c.146C= (p.Pro49=) c.458C= (p.Pro153=) c.155C= (p.Pro52=) | |
7 | g.99768419G>T | CA368370946 | CYP3A4 | c.605C>A (p.Pro202His) c.146C>A (p.Pro49His) c.458C>A (p.Pro153His) c.155C>A (p.Pro52His) | |
7 | g.99768420G>A | CA4369694 | CYP3A4 | c.604C>T (p.Pro202Ser) c.145C>T (p.Pro49Ser) c.457C>T (p.Pro153Ser) c.154C>T (p.Pro52Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.99768420G>C | CA368370949 | CYP3A4 | c.604C>G (p.Pro202Ala) c.145C>G (p.Pro49Ala) c.457C>G (p.Pro153Ala) c.154C>G (p.Pro52Ala) | |
7 | g.99768420G= | CA1729180895 | CYP3A4 | c.604C= (p.Pro202=) c.145C= (p.Pro49=) c.457C= (p.Pro153=) c.154C= (p.Pro52=) | |
7 | g.99768420G>T | CA368370951 | CYP3A4 | c.604C>A (p.Pro202Thr) c.145C>A (p.Pro49Thr) c.457C>A (p.Pro153Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 |
7 | g.99768421G>A | CA456690147 | CYP3A4 | c.603C>T (p.Asp201=) c.144C>T (p.Asp48=) c.456C>T (p.Asp152=) c.153C>T (p.Asp51=) | dbSNP |
7 | g.99768421G>C | CA368370956 | CYP3A4 | c.603C>G (p.Asp201Glu) c.144C>G (p.Asp48Glu) c.456C>G (p.Asp152Glu) c.153C>G (p.Asp51Glu) | |
7 | g.99768421G= | CA1729180896 | CYP3A4 | c.603C= (p.Asp201=) c.144C= (p.Asp48=) c.456C= (p.Asp152=) c.153C= (p.Asp51=) | |
7 | g.99768421G>T | CA368370954 | CYP3A4 | c.603C>A (p.Asp201Glu) c.144C>A (p.Asp48Glu) c.456C>A (p.Asp152Glu) c.153C>A (p.Asp51Glu) | |
7 | g.99768422T>A | CA368370960 | CYP3A4 | c.602A>T (p.Asp201Val) c.143A>T (p.Asp48Val) c.455A>T (p.Asp152Val) c.152A>T (p.Asp51Val) | |
7 | g.99768422T>C | CA368370962 | CYP3A4 | c.602A>G (p.Asp201Gly) c.143A>G (p.Asp48Gly) c.455A>G (p.Asp152Gly) c.152A>G (p.Asp51Gly) | |
7 | g.99768422T>G | CA368370964 | CYP3A4 | c.602A>C (p.Asp201Ala) c.143A>C (p.Asp48Ala) c.455A>C (p.Asp152Ala) c.152A>C (p.Asp51Ala) | |
7 | g.99768423C>A | CA368370966 | CYP3A4 | c.601G>T (p.Asp201Tyr) c.142G>T (p.Asp48Tyr) c.454G>T (p.Asp152Tyr) c.151G>T (p.Asp51Tyr) | |
7 | g.99768423C= | CA1729180897 | CYP3A4 | c.601G= (p.Asp201=) c.142G= (p.Asp48=) c.454G= (p.Asp152=) c.151G= (p.Asp51=) | |
7 | g.99768423C>G | CA368370969 | CYP3A4 | c.601G>C (p.Asp201His) c.142G>C (p.Asp48His) c.454G>C (p.Asp152His) c.151G>C (p.Asp51His) | |
7 | g.99768423C>T | CA368370971 | CYP3A4 | c.601G>A (p.Asp201Asn) c.142G>A (p.Asp48Asn) c.454G>A (p.Asp152Asn) c.151G>A (p.Asp51Asn) | dbSNP gnomAD v4 |
7 | g.99768424T>A | CA4369696 | CYP3A4 | c.600A>T (p.Gln200His) c.141A>T (p.Gln47His) c.453A>T (p.Gln151His) c.150A>T (p.Gln50His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768424T>C | CA4369695 | CYP3A4 | c.600A>G (p.Gln200=) c.141A>G (p.Gln47=) c.453A>G (p.Gln151=) c.150A>G (p.Gln50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.99768424T>G | CA368370981 | CYP3A4 | c.600A>C (p.Gln200His) c.141A>C (p.Gln47His) c.453A>C (p.Gln151His) c.150A>C (p.Gln50His) | |
7 | g.99768424T= | CA1729180898 | CYP3A4 | c.600A= (p.Gln200=) c.141A= (p.Gln47=) c.453A= (p.Gln151=) c.150A= (p.Gln50=) | |
7 | g.99768425dup | CA163153389 | CYP3A4 | c.600dup (p.Asp201ArgfsTer14) c.141dup (p.Asp48ArgfsTer14) c.453dup (p.Asp152ArgfsTer14) c.150dup (p.Asp51ArgfsTer14) | dbSNP gnomAD v4 |
7 | g.99768425T>A | CA368370984 | CYP3A4 | c.599A>T (p.Gln200Leu) c.140A>T (p.Gln47Leu) c.452A>T (p.Gln151Leu) c.149A>T (p.Gln50Leu) | |
7 | g.99768425T>C | CA368370986 | CYP3A4 | c.599A>G (p.Gln200Arg) c.140A>G (p.Gln47Arg) c.452A>G (p.Gln151Arg) c.149A>G (p.Gln50Arg) | gnomAD v4 |
7 | g.99768425T>G | CA368370988 | CYP3A4 | c.599A>C (p.Gln200Pro) c.140A>C (p.Gln47Pro) c.452A>C (p.Gln151Pro) c.149A>C (p.Gln50Pro) | |
7 | g.99768426G>A | CA368370991 | CYP3A4 | c.598C>T (p.Gln200Ter) c.139C>T (p.Gln47Ter) c.451C>T (p.Gln151Ter) c.148C>T (p.Gln50Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768426G>C | CA368370995 | CYP3A4 | c.598C>G (p.Gln200Glu) c.139C>G (p.Gln47Glu) c.451C>G (p.Gln151Glu) c.148C>G (p.Gln50Glu) | dbSNP |
7 | g.99768426G= | CA1729180901 | CYP3A4 | c.598C= (p.Gln200=) c.139C= (p.Gln47=) c.451C= (p.Gln151=) c.148C= (p.Gln50=) | |
7 | g.99768426G>T | CA368370993 | CYP3A4 | c.598C>A (p.Gln200Lys) c.139C>A (p.Gln47Lys) c.451C>A (p.Gln151Lys) c.148C>A (p.Gln50Lys) | |
7 | g.99768427T>A | CA456690149 | CYP3A4 | c.597A>T (p.Pro199=) c.138A>T (p.Pro46=) c.450A>T (p.Pro150=) c.147A>T (p.Pro49=) | |
7 | g.99768427T>C | CA456690151 | CYP3A4 | c.597A>G (p.Pro199=) c.138A>G (p.Pro46=) c.450A>G (p.Pro150=) c.147A>G (p.Pro49=) | gnomAD v4 |
7 | g.99768427T>G | CA456690150 | CYP3A4 | c.597A>C (p.Pro199=) c.138A>C (p.Pro46=) c.450A>C (p.Pro150=) c.147A>C (p.Pro49=) | |
7 | g.99768428G>A | CA368370998 | CYP3A4 | c.596C>T (p.Pro199Leu) c.137C>T (p.Pro46Leu) c.449C>T (p.Pro150Leu) c.146C>T (p.Pro49Leu) | gnomAD v4 |
7 | g.99768428G>C | CA368371000 | CYP3A4 | c.596C>G (p.Pro199Arg) c.137C>G (p.Pro46Arg) c.449C>G (p.Pro150Arg) c.146C>G (p.Pro49Arg) | |
7 | g.99768428G>T | CA368371002 | CYP3A4 | c.596C>A (p.Pro199Gln) c.137C>A (p.Pro46Gln) c.449C>A (p.Pro150Gln) c.146C>A (p.Pro49Gln) | |
7 | g.99768429G>A | CA368371003 | CYP3A4 | c.595C>T (p.Pro199Ser) c.136C>T (p.Pro46Ser) c.448C>T (p.Pro150Ser) c.145C>T (p.Pro49Ser) | gnomAD v4 COSMIC |
7 | g.99768429G>C | CA368371005 | CYP3A4 | c.595C>G (p.Pro199Ala) c.136C>G (p.Pro46Ala) c.448C>G (p.Pro150Ala) c.145C>G (p.Pro49Ala) | |
7 | g.99768429G>T | CA368371008 | CYP3A4 | c.595C>A (p.Pro199Thr) c.136C>A (p.Pro46Thr) c.448C>A (p.Pro150Thr) c.145C>A (p.Pro49Thr) | |
7 | g.99768430A= | CA1729180902 | CYP3A4 | c.594T= (p.Asn198=) c.135T= (p.Asn45=) c.447T= (p.Asn149=) c.144T= (p.Asn48=) | |
7 | g.99768430A>C | CA368371010 | CYP3A4 | c.594T>G (p.Asn198Lys) c.135T>G (p.Asn45Lys) c.447T>G (p.Asn149Lys) c.144T>G (p.Asn48Lys) | |
7 | g.99768430A>G | CA456690152 | CYP3A4 | c.594T>C (p.Asn198=) c.135T>C (p.Asn45=) c.447T>C (p.Asn149=) c.144T>C (p.Asn48=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768430A>T | CA368371012 | CYP3A4 | c.594T>A (p.Asn198Lys) c.135T>A (p.Asn45Lys) c.447T>A (p.Asn149Lys) c.144T>A (p.Asn48Lys) | |
7 | g.99768431T>A | CA368371014 | CYP3A4 | c.593A>T (p.Asn198Ile) c.134A>T (p.Asn45Ile) c.446A>T (p.Asn149Ile) c.143A>T (p.Asn48Ile) | |
7 | g.99768431T>C | CA368371017 | CYP3A4 | c.593A>G (p.Asn198Ser) c.134A>G (p.Asn45Ser) c.446A>G (p.Asn149Ser) c.143A>G (p.Asn48Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768431T>G | CA368371019 | CYP3A4 | c.593A>C (p.Asn198Thr) c.134A>C (p.Asn45Thr) c.446A>C (p.Asn149Thr) c.143A>C (p.Asn48Thr) | |
7 | g.99768431T= | CA1729180904 | CYP3A4 | c.593A= (p.Asn198=) c.134A= (p.Asn45=) c.446A= (p.Asn149=) c.143A= (p.Asn48=) | |
7 | g.99768432T>A | CA368371027 | CYP3A4 | c.592A>T (p.Asn198Tyr) c.133A>T (p.Asn45Tyr) c.445A>T (p.Asn149Tyr) c.142A>T (p.Asn48Tyr) | |
7 | g.99768432T>C | CA368371025 | CYP3A4 | c.592A>G (p.Asn198Asp) c.133A>G (p.Asn45Asp) c.445A>G (p.Asn149Asp) c.142A>G (p.Asn48Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768432T>G | CA368371022 | CYP3A4 | c.592A>C (p.Asn198His) c.133A>C (p.Asn45His) c.445A>C (p.Asn149His) c.142A>C (p.Asn48His) | |
7 | g.99768432T= | CA1729180907 | CYP3A4 | c.592A= (p.Asn198=) c.133A= (p.Asn45=) c.445A= (p.Asn149=) c.142A= (p.Asn48=) | |
7 | g.99768433G>A | CA456690153 | CYP3A4 | c.591C>T (p.Asn197=) c.132C>T (p.Asn44=) c.444C>T (p.Asn148=) c.141C>T (p.Asn47=) | dbSNP gnomAD v4 |
7 | g.99768433G>C | CA368371029 | CYP3A4 | c.591C>G (p.Asn197Lys) c.132C>G (p.Asn44Lys) c.444C>G (p.Asn148Lys) c.141C>G (p.Asn47Lys) | |
7 | g.99768433G= | CA1729180910 | CYP3A4 | c.591C= (p.Asn197=) c.132C= (p.Asn44=) c.444C= (p.Asn148=) c.141C= (p.Asn47=) | |
7 | g.99768433G>T | CA368371031 | CYP3A4 | c.591C>A (p.Asn197Lys) c.132C>A (p.Asn44Lys) c.444C>A (p.Asn148Lys) c.141C>A (p.Asn47Lys) | |
7 | g.99768434T>A | CA368371034 | CYP3A4 | c.590A>T (p.Asn197Ile) c.131A>T (p.Asn44Ile) c.443A>T (p.Asn148Ile) c.140A>T (p.Asn47Ile) | |
7 | g.99768434T>C | CA368371037 | CYP3A4 | c.590A>G (p.Asn197Ser) c.131A>G (p.Asn44Ser) c.443A>G (p.Asn148Ser) c.140A>G (p.Asn47Ser) | |
7 | g.99768434T>G | CA368371039 | CYP3A4 | c.590A>C (p.Asn197Thr) c.131A>C (p.Asn44Thr) c.443A>C (p.Asn148Thr) c.140A>C (p.Asn47Thr) | |
7 | g.99768435T>A | CA368371042 | CYP3A4 | c.589A>T (p.Asn197Tyr) c.130A>T (p.Asn44Tyr) c.442A>T (p.Asn148Tyr) c.139A>T (p.Asn47Tyr) | |
7 | g.99768435T>C | CA368371044 | CYP3A4 | c.589A>G (p.Asn197Asp) c.130A>G (p.Asn44Asp) c.442A>G (p.Asn148Asp) c.139A>G (p.Asn47Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768435T>G | CA368371047 | CYP3A4 | c.589A>C (p.Asn197His) c.130A>C (p.Asn44His) c.442A>C (p.Asn148His) c.139A>C (p.Asn47His) | |
7 | g.99768435T= | CA1729180914 | CYP3A4 | c.589A= (p.Asn197=) c.130A= (p.Asn44=) c.442A= (p.Asn148=) c.139A= (p.Asn47=) | |
7 | g.99768435_99768439delinsTGAGA | CA1729180913 | CYP3A4 | c.585_589delinsTCTCA (p.Ser195=) c.126_130delinsTCTCA (p.Ser42=) c.438_442delinsTCTCA (p.Ser146=) c.135_139delinsTCTCA (p.Ser45=) | |
7 | g.99768436G>A | CA456690154 | CYP3A4 | c.588C>T (p.Leu196=) c.129C>T (p.Leu43=) c.441C>T (p.Leu147=) c.138C>T (p.Leu46=) | dbSNP |
7 | g.99768436G>C | CA456690155 | CYP3A4 | c.588C>G (p.Leu196=) c.129C>G (p.Leu43=) c.441C>G (p.Leu147=) c.138C>G (p.Leu46=) | gnomAD v4 |
7 | g.99768436G= | CA1729180919 | CYP3A4 | c.588C= (p.Leu196=) c.129C= (p.Leu43=) c.441C= (p.Leu147=) c.138C= (p.Leu46=) | |
7 | g.99768436G>T | CA456690156 | CYP3A4 | c.588C>A (p.Leu196=) c.129C>A (p.Leu43=) c.441C>A (p.Leu147=) c.138C>A (p.Leu46=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768441_99768442del | CA4369697 | CYP3A4 | c.587_588del (p.Leu196GlnfsTer18) c.128_129del (p.Leu43GlnfsTer18) c.440_441del (p.Leu147GlnfsTer18) c.137_138del (p.Leu46GlnfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768439_99768442del | CA918084568 | CYP3A4 | c.585_588del (p.Leu196ThrfsTer15) c.126_129del (p.Leu43ThrfsTer15) c.438_441del (p.Leu147ThrfsTer15) c.135_138del (p.Leu46ThrfsTer15) | dbSNP |
7 | g.99768437A>C | CA368371051 | CYP3A4 | c.587T>G (p.Leu196Arg) c.128T>G (p.Leu43Arg) c.440T>G (p.Leu147Arg) c.137T>G (p.Leu46Arg) | |
7 | g.99768437A>G | CA368371054 | CYP3A4 | c.587T>C (p.Leu196Pro) c.128T>C (p.Leu43Pro) c.440T>C (p.Leu147Pro) c.137T>C (p.Leu46Pro) | |
7 | g.99768437A>T | CA368371056 | CYP3A4 | c.587T>A (p.Leu196His) c.128T>A (p.Leu43His) c.440T>A (p.Leu147His) c.137T>A (p.Leu46His) | |
7 | g.99768438G>A | CA368371061 | CYP3A4 | c.586C>T (p.Leu196Phe) c.127C>T (p.Leu43Phe) c.439C>T (p.Leu147Phe) c.136C>T (p.Leu46Phe) | |
7 | g.99768438G>C | CA368371059 | CYP3A4 | c.586C>G (p.Leu196Val) c.127C>G (p.Leu43Val) c.439C>G (p.Leu147Val) c.136C>G (p.Leu46Val) | |
7 | g.99768438G>T | CA368371058 | CYP3A4 | c.586C>A (p.Leu196Ile) c.127C>A (p.Leu43Ile) c.439C>A (p.Leu147Ile) c.136C>A (p.Leu46Ile) | |
7 | g.99768439A= | CA1729180923 | CYP3A4 | c.585T= (p.Ser195=) c.126T= (p.Ser42=) c.438T= (p.Ser146=) c.135T= (p.Ser45=) | |
7 | g.99768439A>C | CA456690158 | CYP3A4 | c.585T>G (p.Ser195=) c.126T>G (p.Ser42=) c.438T>G (p.Ser146=) c.135T>G (p.Ser45=) | |
7 | g.99768439A>G | CA456690159 | CYP3A4 | c.585T>C (p.Ser195=) c.126T>C (p.Ser42=) c.438T>C (p.Ser146=) c.135T>C (p.Ser45=) | dbSNP |
7 | g.99768439A>T | CA456690160 | CYP3A4 | c.585T>A (p.Ser195=) c.126T>A (p.Ser42=) c.438T>A (p.Ser146=) c.135T>A (p.Ser45=) | |
7 | g.99768440G>A | CA368371064 | CYP3A4 | c.584C>T (p.Ser195Phe) c.125C>T (p.Ser42Phe) c.437C>T (p.Ser146Phe) c.134C>T (p.Ser45Phe) | |
7 | g.99768440G>C | CA368371068 | CYP3A4 | c.584C>G (p.Ser195Cys) c.125C>G (p.Ser42Cys) c.437C>G (p.Ser146Cys) c.134C>G (p.Ser45Cys) | gnomAD v4 |
7 | g.99768440G>T | CA368371066 | CYP3A4 | c.584C>A (p.Ser195Tyr) c.125C>A (p.Ser42Tyr) c.437C>A (p.Ser146Tyr) c.134C>A (p.Ser45Tyr) | |
7 | g.99768441A>C | CA368371071 | CYP3A4 | c.583T>G (p.Ser195Ala) c.124T>G (p.Ser42Ala) c.436T>G (p.Ser146Ala) c.133T>G (p.Ser45Ala) | gnomAD v4 |
7 | g.99768441A>G | CA368371075 | CYP3A4 | c.583T>C (p.Ser195Pro) c.124T>C (p.Ser42Pro) c.436T>C (p.Ser146Pro) c.133T>C (p.Ser45Pro) | |
7 | g.99768441A>T | CA368371073 | CYP3A4 | c.583T>A (p.Ser195Thr) c.124T>A (p.Ser42Thr) c.436T>A (p.Ser146Thr) c.133T>A (p.Ser45Thr) | |
7 | g.99768442G>A | CA456690161 | CYP3A4 | c.582C>T (p.Asp194=) c.123C>T (p.Asp41=) c.435C>T (p.Asp145=) c.132C>T (p.Asp44=) | dbSNP |
7 | g.99768442G>C | CA368371078 | CYP3A4 | c.582C>G (p.Asp194Glu) c.123C>G (p.Asp41Glu) c.435C>G (p.Asp145Glu) c.132C>G (p.Asp44Glu) | |
7 | g.99768442G= | CA1729180927 | CYP3A4 | c.582C= (p.Asp194=) c.123C= (p.Asp41=) c.435C= (p.Asp145=) c.132C= (p.Asp44=) | |
7 | g.99768442G>T | CA368371080 | CYP3A4 | c.582C>A (p.Asp194Glu) c.123C>A (p.Asp41Glu) c.435C>A (p.Asp145Glu) c.132C>A (p.Asp44Glu) | |
7 | g.99768443T>A | CA368371082 | CYP3A4 | c.581A>T (p.Asp194Val) c.122A>T (p.Asp41Val) c.434A>T (p.Asp145Val) c.131A>T (p.Asp44Val) | |
7 | g.99768443T>C | CA368371085 | CYP3A4 | c.581A>G (p.Asp194Gly) c.122A>G (p.Asp41Gly) c.434A>G (p.Asp145Gly) c.131A>G (p.Asp44Gly) | |
7 | g.99768443T>G | CA368371087 | CYP3A4 | c.581A>C (p.Asp194Ala) c.122A>C (p.Asp41Ala) c.434A>C (p.Asp145Ala) c.131A>C (p.Asp44Ala) | |
7 | g.99768444C>A | CA368371090 | CYP3A4 | c.580G>T (p.Asp194Tyr) c.121G>T (p.Asp41Tyr) c.433G>T (p.Asp145Tyr) c.130G>T (p.Asp44Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768444C= | CA1729180931 | CYP3A4 | c.580G= (p.Asp194=) c.121G= (p.Asp41=) c.433G= (p.Asp145=) c.130G= (p.Asp44=) | |
7 | g.99768444C>G | CA368371092 | CYP3A4 | c.580G>C (p.Asp194His) c.121G>C (p.Asp41His) c.433G>C (p.Asp145His) c.130G>C (p.Asp44His) | dbSNP |
7 | g.99768444C>T | CA4369698 | CYP3A4 | c.580G>A (p.Asp194Asn) c.121G>A (p.Asp41Asn) c.433G>A (p.Asp145Asn) c.130G>A (p.Asp44Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.99768445G>A | CA4369699 | CYP3A4 | c.579C>T (p.Ile193=) c.120C>T (p.Ile40=) c.432C>T (p.Ile144=) c.129C>T (p.Ile43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768445G>C | CA368371098 | CYP3A4 | c.579C>G (p.Ile193Met) c.120C>G (p.Ile40Met) c.432C>G (p.Ile144Met) c.129C>G (p.Ile43Met) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768445G= | CA1729180938 | CYP3A4 | c.579C= (p.Ile193=) c.120C= (p.Ile40=) c.432C= (p.Ile144=) c.129C= (p.Ile43=) | |
7 | g.99768445G>T | CA456690162 | CYP3A4 | c.579C>A (p.Ile193=) c.120C>A (p.Ile40=) c.432C>A (p.Ile144=) c.129C>A (p.Ile43=) | dbSNP gnomAD v4 |
7 | g.99768446A>C | CA368371105 | CYP3A4 | c.578T>G (p.Ile193Ser) c.119T>G (p.Ile40Ser) c.431T>G (p.Ile144Ser) c.128T>G (p.Ile43Ser) | |
7 | g.99768446A>G | CA368371103 | CYP3A4 | c.578T>C (p.Ile193Thr) c.119T>C (p.Ile40Thr) c.431T>C (p.Ile144Thr) c.128T>C (p.Ile43Thr) | |
7 | g.99768446A>T | CA368371101 | CYP3A4 | c.578T>A (p.Ile193Asn) c.119T>A (p.Ile40Asn) c.431T>A (p.Ile144Asn) c.128T>A (p.Ile43Asn) | |
7 | g.99768447T>A | CA368371109 | CYP3A4 | c.577A>T (p.Ile193Phe) c.118A>T (p.Ile40Phe) c.430A>T (p.Ile144Phe) c.127A>T (p.Ile43Phe) | |
7 | g.99768447T>C | CA4369700 | CYP3A4 | c.577A>G (p.Ile193Val) c.118A>G (p.Ile40Val) c.430A>G (p.Ile144Val) c.127A>G (p.Ile43Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768447T>G | CA368371113 | CYP3A4 | c.577A>C (p.Ile193Leu) c.118A>C (p.Ile40Leu) c.430A>C (p.Ile144Leu) c.127A>C (p.Ile43Leu) | |
7 | g.99768447T= | CA1729180942 | CYP3A4 | c.577A= (p.Ile193=) c.118A= (p.Ile40=) c.430A= (p.Ile144=) c.127A= (p.Ile43=) | |
7 | g.99768448G>A | CA456690163 | CYP3A4 | c.576C>T (p.Asn192=) c.117C>T (p.Asn39=) c.429C>T (p.Asn143=) c.126C>T (p.Asn42=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768448G>C | CA163153404 | CYP3A4 | c.576C>G (p.Asn192Lys) c.117C>G (p.Asn39Lys) c.429C>G (p.Asn143Lys) c.126C>G (p.Asn42Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768448G= | CA1729180946 | CYP3A4 | c.576C= (p.Asn192=) c.117C= (p.Asn39=) c.429C= (p.Asn143=) c.126C= (p.Asn42=) | |
7 | g.99768448G>T | CA368371116 | CYP3A4 | c.576C>A (p.Asn192Lys) c.117C>A (p.Asn39Lys) c.429C>A (p.Asn143Lys) c.126C>A (p.Asn42Lys) | |
7 | g.99768449T>A | CA368371120 | CYP3A4 | c.575A>T (p.Asn192Ile) c.116A>T (p.Asn39Ile) c.428A>T (p.Asn143Ile) c.125A>T (p.Asn42Ile) | |
7 | g.99768449T>C | CA4369701 | CYP3A4 | c.575A>G (p.Asn192Ser) c.116A>G (p.Asn39Ser) c.428A>G (p.Asn143Ser) c.125A>G (p.Asn42Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768449T>G | CA368371123 | CYP3A4 | c.575A>C (p.Asn192Thr) c.116A>C (p.Asn39Thr) c.428A>C (p.Asn143Thr) c.125A>C (p.Asn42Thr) | |
7 | g.99768449T= | CA1729180948 | CYP3A4 | c.575A= (p.Asn192=) c.116A= (p.Asn39=) c.428A= (p.Asn143=) c.125A= (p.Asn42=) | |
7 | g.99768450T>A | CA368371127 | CYP3A4 | c.574A>T (p.Asn192Tyr) c.115A>T (p.Asn39Tyr) c.427A>T (p.Asn143Tyr) c.124A>T (p.Asn42Tyr) | |
7 | g.99768450T>C | CA368371129 | CYP3A4 | c.574A>G (p.Asn192Asp) c.115A>G (p.Asn39Asp) c.427A>G (p.Asn143Asp) c.124A>G (p.Asn42Asp) | |
7 | g.99768450T>G | CA368371131 | CYP3A4 | c.574A>C (p.Asn192His) c.115A>C (p.Asn39His) c.427A>C (p.Asn143His) c.124A>C (p.Asn42His) | |
7 | g.99768451C>A | CA456690164 | CYP3A4 | c.573G>T (p.Val191=) c.114G>T (p.Val38=) c.426G>T (p.Val142=) c.123G>T (p.Val41=) | |
7 | g.99768451C= | CA1729180950 | CYP3A4 | c.573G= (p.Val191=) c.114G= (p.Val38=) c.426G= (p.Val142=) c.123G= (p.Val41=) | |
7 | g.99768451C>G | CA456690165 | CYP3A4 | c.573G>C (p.Val191=) c.114G>C (p.Val38=) c.426G>C (p.Val142=) c.123G>C (p.Val41=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768451C>T | CA456690166 | CYP3A4 | c.573G>A (p.Val191=) c.114G>A (p.Val38=) c.426G>A (p.Val142=) c.123G>A (p.Val41=) | COSMIC |
7 | g.99768452A= | CA1729180954 | CYP3A4 | c.572T= (p.Val191=) c.113T= (p.Val38=) c.425T= (p.Val142=) c.122T= (p.Val41=) | |
7 | g.99768452A>C | CA368371137 | CYP3A4 | c.572T>G (p.Val191Gly) c.113T>G (p.Val38Gly) c.425T>G (p.Val142Gly) c.122T>G (p.Val41Gly) | |
7 | g.99768452A>G | CA163153409 | CYP3A4 | c.572T>C (p.Val191Ala) c.113T>C (p.Val38Ala) c.425T>C (p.Val142Ala) c.122T>C (p.Val41Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768452A>T | CA368371134 | CYP3A4 | c.572T>A (p.Val191Glu) c.113T>A (p.Val38Glu) c.425T>A (p.Val142Glu) c.122T>A (p.Val41Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768453C>A | CA368371140 | CYP3A4 | c.571G>T (p.Val191Leu) c.112G>T (p.Val38Leu) c.424G>T (p.Val142Leu) c.121G>T (p.Val41Leu) | gnomAD v4 |
7 | g.99768453C>G | CA368371143 | CYP3A4 | c.571G>C (p.Val191Leu) c.112G>C (p.Val38Leu) c.424G>C (p.Val142Leu) c.121G>C (p.Val41Leu) | |
7 | g.99768453C>T | CA368371145 | CYP3A4 | c.571G>A (p.Val191Met) c.112G>A (p.Val38Met) c.424G>A (p.Val142Met) c.121G>A (p.Val41Met) | |
7 | g.99768454T>A | CA456690167 | CYP3A4 | c.570A>T (p.Gly190=) c.111A>T (p.Gly37=) c.423A>T (p.Gly141=) c.120A>T (p.Gly40=) | |
7 | g.99768454T>C | CA4369702 | CYP3A4 | c.570A>G (p.Gly190=) c.111A>G (p.Gly37=) c.423A>G (p.Gly141=) c.120A>G (p.Gly40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768454T>G | CA456690168 | CYP3A4 | c.570A>C (p.Gly190=) c.111A>C (p.Gly37=) c.423A>C (p.Gly141=) c.120A>C (p.Gly40=) | |
7 | g.99768454T= | CA1729180956 | CYP3A4 | c.570A= (p.Gly190=) c.111A= (p.Gly37=) c.423A= (p.Gly141=) c.120A= (p.Gly40=) | |
7 | g.99768455C>A | CA368371146 | CYP3A4 | c.569G>T (p.Gly190Val) c.110G>T (p.Gly37Val) c.422G>T (p.Gly141Val) c.119G>T (p.Gly40Val) | gnomAD v4 |
7 | g.99768455C>G | CA368371148 | CYP3A4 | c.569G>C (p.Gly190Ala) c.110G>C (p.Gly37Ala) c.422G>C (p.Gly141Ala) c.119G>C (p.Gly40Ala) | |
7 | g.99768455C>T | CA368371150 | CYP3A4 | c.569G>A (p.Gly190Glu) c.110G>A (p.Gly37Glu) c.422G>A (p.Gly141Glu) c.119G>A (p.Gly40Glu) | |
7 | g.99768456C>A | CA368371153 | CYP3A4 | c.568G>T (p.Gly190Ter) c.109G>T (p.Gly37Ter) c.421G>T (p.Gly141Ter) c.118G>T (p.Gly40Ter) | |
7 | g.99768456C>G | CA368371155 | CYP3A4 | c.568G>C (p.Gly190Arg) c.109G>C (p.Gly37Arg) c.421G>C (p.Gly141Arg) c.118G>C (p.Gly40Arg) | |
7 | g.99768456C>T | CA368371157 | CYP3A4 | c.568G>A (p.Gly190Arg) c.109G>A (p.Gly37Arg) c.421G>A (p.Gly141Arg) c.118G>A (p.Gly40Arg) | |
7 | g.99768457A>C | CA368371160 | CYP3A4 | c.567T>G (p.Phe189Leu) c.108T>G (p.Phe36Leu) c.420T>G (p.Phe140Leu) c.117T>G (p.Phe39Leu) | |
7 | g.99768457A>G | CA456690169 | CYP3A4 | c.567T>C (p.Phe189=) c.108T>C (p.Phe36=) c.420T>C (p.Phe140=) c.117T>C (p.Phe39=) | |
7 | g.99768457A>T | CA368371162 | CYP3A4 | c.567T>A (p.Phe189Leu) c.108T>A (p.Phe36Leu) c.420T>A (p.Phe140Leu) c.117T>A (p.Phe39Leu) | |
7 | g.99768458A= | CA1729180958 | CYP3A4 | c.566T= (p.Phe189=) c.107T= (p.Phe36=) c.419T= (p.Phe140=) c.116T= (p.Phe39=) | |
7 | g.99768458A>C | CA368371168 | CYP3A4 | c.566T>G (p.Phe189Cys) c.107T>G (p.Phe36Cys) c.419T>G (p.Phe140Cys) c.116T>G (p.Phe39Cys) | |
7 | g.99768458A>G | CA163153414 | CYP3A4 | c.566T>C (p.Phe189Ser) c.107T>C (p.Phe36Ser) c.419T>C (p.Phe140Ser) c.116T>C (p.Phe39Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768458A>T | CA368371166 | CYP3A4 | c.566T>A (p.Phe189Tyr) c.107T>A (p.Phe36Tyr) c.419T>A (p.Phe140Tyr) c.116T>A (p.Phe39Tyr) | |
7 | g.99768459A= | CA1729180960 | CYP3A4 | c.565T= (p.Phe189=) c.106T= (p.Phe36=) c.418T= (p.Phe140=) c.115T= (p.Phe39=) | |
7 | g.99768459A>C | CA368371170 | CYP3A4 | c.565T>G (p.Phe189Val) c.106T>G (p.Phe36Val) c.418T>G (p.Phe140Val) c.115T>G (p.Phe39Val) | |
7 | g.99768459A>G | CA4369703 | CYP3A4 | c.565T>C (p.Phe189Leu) c.106T>C (p.Phe36Leu) c.418T>C (p.Phe140Leu) c.115T>C (p.Phe39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768459A>T | CA368371174 | CYP3A4 | c.565T>A (p.Phe189Ile) c.106T>A (p.Phe36Ile) c.418T>A (p.Phe140Ile) c.115T>A (p.Phe39Ile) | |
7 | g.99768460T>A | CA456690170 | CYP3A4 | c.564A>T (p.Ser188=) c.105A>T (p.Ser35=) c.417A>T (p.Ser139=) c.114A>T (p.Ser38=) | |
7 | g.99768460T>C | CA456690171 | CYP3A4 | c.564A>G (p.Ser188=) c.105A>G (p.Ser35=) c.417A>G (p.Ser139=) c.114A>G (p.Ser38=) | |
7 | g.99768460T>G | CA456690172 | CYP3A4 | c.564A>C (p.Ser188=) c.105A>C (p.Ser35=) c.417A>C (p.Ser139=) c.114A>C (p.Ser38=) | |
7 | g.99768461G>A | CA368371178 | CYP3A4 | c.563C>T (p.Ser188Leu) c.104C>T (p.Ser35Leu) c.416C>T (p.Ser139Leu) c.113C>T (p.Ser38Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768461G>C | CA368371179 | CYP3A4 | c.563C>G (p.Ser188Ter) c.104C>G (p.Ser35Ter) c.416C>G (p.Ser139Ter) c.113C>G (p.Ser38Ter) | |
7 | g.99768461G= | CA1729180962 | CYP3A4 | c.563C= (p.Ser188=) c.104C= (p.Ser35=) c.416C= (p.Ser139=) c.113C= (p.Ser38=) | |
7 | g.99768461G>T | CA368371182 | CYP3A4 | c.563C>A (p.Ser188Ter) c.104C>A (p.Ser35Ter) c.416C>A (p.Ser139Ter) c.113C>A (p.Ser38Ter) | gnomAD v4 |
7 | g.99768462A= | CA1729180964 | CYP3A4 | c.562T= (p.Ser188=) c.103T= (p.Ser35=) c.415T= (p.Ser139=) c.112T= (p.Ser38=) | |
7 | g.99768462A>C | CA368371183 | CYP3A4 | c.562T>G (p.Ser188Ala) c.103T>G (p.Ser35Ala) c.415T>G (p.Ser139Ala) c.112T>G (p.Ser38Ala) | |
7 | g.99768462A>G | CA368371184 | CYP3A4 | c.562T>C (p.Ser188Pro) c.103T>C (p.Ser35Pro) c.415T>C (p.Ser139Pro) c.112T>C (p.Ser38Pro) | |
7 | g.99768462A>T | CA368371187 | CYP3A4 | c.562T>A (p.Ser188Thr) c.103T>A (p.Ser35Thr) c.415T>A (p.Ser139Thr) c.112T>A (p.Ser38Thr) | dbSNP gnomAD v4 |
7 | g.99768463T>A | CA456690175 | CYP3A4 | c.561A>T (p.Thr187=) c.102A>T (p.Thr34=) c.414A>T (p.Thr138=) c.111A>T (p.Thr37=) | |
7 | g.99768463T>C | CA456690174 | CYP3A4 | c.561A>G (p.Thr187=) c.102A>G (p.Thr34=) c.414A>G (p.Thr138=) c.111A>G (p.Thr37=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.99768463T>G | CA456690173 | CYP3A4 | c.561A>C (p.Thr187=) c.102A>C (p.Thr34=) c.414A>C (p.Thr138=) c.111A>C (p.Thr37=) | |
7 | g.99768463T= | CA1729180967 | CYP3A4 | c.561A= (p.Thr187=) c.102A= (p.Thr34=) c.414A= (p.Thr138=) c.111A= (p.Thr37=) | |
7 | g.99768464G>A | CA368371189 | CYP3A4 | c.560C>T (p.Thr187Ile) c.101C>T (p.Thr34Ile) c.413C>T (p.Thr138Ile) c.110C>T (p.Thr37Ile) | |
7 | g.99768464G>C | CA368371192 | CYP3A4 | c.560C>G (p.Thr187Arg) c.101C>G (p.Thr34Arg) c.413C>G (p.Thr138Arg) c.110C>G (p.Thr37Arg) | |
7 | g.99768464G>T | CA368371193 | CYP3A4 | c.560C>A (p.Thr187Lys) c.101C>A (p.Thr34Lys) c.413C>A (p.Thr138Lys) c.110C>A (p.Thr37Lys) | |
7 | g.99768465T>A | CA163153417 | CYP3A4 | c.559A>T (p.Thr187Ser) c.100A>T (p.Thr34Ser) c.412A>T (p.Thr138Ser) c.109A>T (p.Thr37Ser) | |
7 | g.99768465T>C | CA368371199 | CYP3A4 | c.559A>G (p.Thr187Ala) c.100A>G (p.Thr34Ala) c.412A>G (p.Thr138Ala) c.109A>G (p.Thr37Ala) | |
7 | g.99768465T>G | CA368371197 | CYP3A4 | c.559A>C (p.Thr187Pro) c.100A>C (p.Thr34Pro) c.412A>C (p.Thr138Pro) c.109A>C (p.Thr37Pro) | |
7 | g.99768466G>A | CA456690176 | CYP3A4 | c.558C>T (p.Ser186=) c.99C>T (p.Ser33=) c.411C>T (p.Ser137=) c.108C>T (p.Ser36=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768466G>C | CA4369704 | CYP3A4 | c.558C>G (p.Ser186Arg) c.99C>G (p.Ser33Arg) c.411C>G (p.Ser137Arg) c.108C>G (p.Ser36Arg) | dbSNP ExAC gnomAD v2 |
7 | g.99768466G= | CA1729180970 | CYP3A4 | c.558C= (p.Ser186=) c.99C= (p.Ser33=) c.411C= (p.Ser137=) c.108C= (p.Ser36=) | |
7 | g.99768466G>T | CA368371204 | CYP3A4 | c.558C>A (p.Ser186Arg) c.99C>A (p.Ser33Arg) c.411C>A (p.Ser137Arg) c.108C>A (p.Ser36Arg) | |
7 | g.99768467C>A | CA368371207 | CYP3A4 | c.557G>T (p.Ser186Ile) c.98G>T (p.Ser33Ile) c.410G>T (p.Ser137Ile) c.107G>T (p.Ser36Ile) | |
7 | g.99768467C= | CA1729180974 | CYP3A4 | c.557G= (p.Ser186=) c.98G= (p.Ser33=) c.410G= (p.Ser137=) c.107G= (p.Ser36=) | |
7 | g.99768467C>G | CA368371210 | CYP3A4 | c.557G>C (p.Ser186Thr) c.98G>C (p.Ser33Thr) c.410G>C (p.Ser137Thr) c.107G>C (p.Ser36Thr) | |
7 | g.99768467C>T | CA163153421 | CYP3A4 | c.557G>A (p.Ser186Asn) c.98G>A (p.Ser33Asn) c.410G>A (p.Ser137Asn) c.107G>A (p.Ser36Asn) | dbSNP gnomAD v3 gnomAD v4 |