| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |