| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.99767121_99767123del | CA576401751 | CYP3A4 | c.798+13_798+15del (n.798+13_798+15del) n.233+13_233+15del c.339+13_339+15del (n.339+13_339+15del) c.651+13_651+15del (n.651+13_651+15del) c.348+13_348+15del (n.348+13_348+15del) c.795+13_795+15del (n.795+13_795+15del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767118_99767128delinsCACCACATTTT | CA1729179911 | CYP3A4 | c.798+3_798+13delinsAAAATGTGGTG (n.798+3_798+13delinsAAAATGTGGTG) n.233+3_233+13delinsAAAATGTGGTG c.339+3_339+13delinsAAAATGTGGTG (n.339+3_339+13delinsAAAATGTGGTG) c.651+3_651+13delinsAAAATGTGGTG (n.651+3_651+13delinsAAAATGTGGTG) c.348+3_348+13delinsAAAATGTGGTG (n.348+3_348+13delinsAAAATGTGGTG) c.795+3_795+13delinsAAAATGTGGTG (n.795+3_795+13delinsAAAATGTGGTG) | |
| 7 | g.99767122_99767131del | CA844513650 | CYP3A4 | c.798+3_798+12del n.233+3_233+12del c.339+3_339+12del c.651+3_651+12del c.348+3_348+12del c.795+3_795+12del | dbSNP gnomAD v4 |
| 7 | g.99767123C= | CA1729179919 | CYP3A4 | c.798+8G= (n.798+8G=) n.233+8G= c.339+8G= (n.339+8G=) c.651+8G= (n.651+8G=) c.348+8G= (n.348+8G=) c.795+8G= (n.795+8G=) | |
| 7 | g.99767123C>T | CA4369643 | CYP3A4 | c.798+8G>A (n.798+8G>A) n.233+8G>A c.339+8G>A (n.339+8G>A) c.651+8G>A (n.651+8G>A) c.348+8G>A (n.348+8G>A) c.795+8G>A (n.795+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767124_99767125delinsAT | CA1729179921 | CYP3A4 | c.798+6_798+7delinsAT (n.798+6_798+7delinsAT) n.233+6_233+7delinsAT c.339+6_339+7delinsAT (n.339+6_339+7delinsAT) c.651+6_651+7delinsAT (n.651+6_651+7delinsAT) c.348+6_348+7delinsAT (n.348+6_348+7delinsAT) c.795+6_795+7delinsAT (n.795+6_795+7delinsAT) | |
| 7 | g.99767128del | CA576401752 | CYP3A4 | c.798+6del (n.798+6del) n.233+6del c.339+6del (n.339+6del) c.651+6del (n.651+6del) c.348+6del (n.348+6del) c.795+6del (n.795+6del) | dbSNP gnomAD v2 |
| 7 | g.99767129A= | CA1729179923 | CYP3A4 | c.798+2T= (n.798+2T=) n.233+2T= c.339+2T= (n.339+2T=) c.651+2T= (n.651+2T=) c.348+2T= (n.348+2T=) c.795+2T= (n.795+2T=) | |
| 7 | g.99767129A>C | CA368370141 | CYP3A4 | c.798+2T>G (n.798+2T>G) n.233+2T>G c.339+2T>G (n.339+2T>G) c.651+2T>G (n.651+2T>G) c.348+2T>G (n.348+2T>G) c.795+2T>G (n.795+2T>G) | |
| 7 | g.99767129A>G | CA368370142 | CYP3A4 | c.798+2T>C (n.798+2T>C) n.233+2T>C c.339+2T>C (n.339+2T>C) c.651+2T>C (n.651+2T>C) c.348+2T>C (n.348+2T>C) c.795+2T>C (n.795+2T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767129A>T | CA368370140 | CYP3A4 | c.798+2T>A (n.798+2T>A) n.233+2T>A c.339+2T>A (n.339+2T>A) c.651+2T>A (n.651+2T>A) c.348+2T>A (n.348+2T>A) c.795+2T>A (n.795+2T>A) | |
| 7 | g.99767130C>A | CA368370143 | CYP3A4 | c.798+1G>T (n.798+1G>T) n.233+1G>T c.339+1G>T (n.339+1G>T) c.651+1G>T (n.651+1G>T) c.348+1G>T (n.348+1G>T) c.795+1G>T (n.795+1G>T) | |
| 7 | g.99767130C>G | CA368370144 | CYP3A4 | c.798+1G>C (n.798+1G>C) n.233+1G>C c.339+1G>C (n.339+1G>C) c.651+1G>C (n.651+1G>C) c.348+1G>C (n.348+1G>C) c.795+1G>C (n.795+1G>C) | |
| 7 | g.99767130C>T | CA368370145 | CYP3A4 | c.798+1G>A (n.798+1G>A) n.233+1G>A c.339+1G>A (n.339+1G>A) c.651+1G>A (n.651+1G>A) c.348+1G>A (n.348+1G>A) c.795+1G>A (n.795+1G>A) | |
| 7 | g.99767131C>A | CA368370146 | CYP3A4 | c.798G>T (p.Lys266Asn) n.233G>T c.339G>T (p.Lys113Asn) c.651G>T (p.Lys217Asn) c.348G>T (p.Lys116Asn) c.795G>T (p.Lys265Asn) | |
| 7 | g.99767131C>G | CA368370147 | CYP3A4 | c.798G>C (p.Lys266Asn) n.233G>C c.339G>C (p.Lys113Asn) c.651G>C (p.Lys217Asn) c.348G>C (p.Lys116Asn) c.795G>C (p.Lys265Asn) | |
| 7 | g.99767131C>T | CA456689597 | CYP3A4 | c.798G>A (p.Lys266=) n.233G>A c.339G>A (p.Lys113=) c.651G>A (p.Lys217=) c.348G>A (p.Lys116=) c.795G>A (p.Lys265=) | gnomAD v4 |
| 7 | g.99767132T>A | CA368370148 | CYP3A4 | c.797A>T (p.Lys266Met) n.232A>T c.338A>T (p.Lys113Met) c.650A>T (p.Lys217Met) c.347A>T (p.Lys116Met) c.794A>T (p.Lys265Met) | |
| 7 | g.99767132T>C | CA368370149 | CYP3A4 | c.797A>G (p.Lys266Arg) n.232A>G c.338A>G (p.Lys113Arg) c.650A>G (p.Lys217Arg) c.347A>G (p.Lys116Arg) c.794A>G (p.Lys265Arg) | |
| 7 | g.99767132T>G | CA368370150 | CYP3A4 | c.797A>C (p.Lys266Thr) n.232A>C c.338A>C (p.Lys113Thr) c.650A>C (p.Lys217Thr) c.347A>C (p.Lys116Thr) c.794A>C (p.Lys265Thr) | |
| 7 | g.99767133T>A | CA368370151 | CYP3A4 | c.796A>T (p.Lys266Ter) n.231A>T c.337A>T (p.Lys113Ter) c.649A>T (p.Lys217Ter) c.346A>T (p.Lys116Ter) c.793A>T (p.Lys265Ter) | |
| 7 | g.99767133T>C | CA368370152 | CYP3A4 | c.796A>G (p.Lys266Glu) n.231A>G c.337A>G (p.Lys113Glu) c.649A>G (p.Lys217Glu) c.346A>G (p.Lys116Glu) c.793A>G (p.Lys265Glu) | |
| 7 | g.99767133T>G | CA368370153 | CYP3A4 | c.796A>C (p.Lys266Gln) n.231A>C c.337A>C (p.Lys113Gln) c.649A>C (p.Lys217Gln) c.346A>C (p.Lys116Gln) c.793A>C (p.Lys265Gln) | |
| 7 | g.99767134T>A | CA368370154 | CYP3A4 | c.795A>T (p.Gln265His) n.230A>T c.336A>T (p.Gln112His) c.648A>T (p.Gln216His) c.345A>T (p.Gln115His) c.792A>T (p.Gln264His) | |
| 7 | g.99767134T>C | CA456689606 | CYP3A4 | c.795A>G (p.Gln265=) n.230A>G c.336A>G (p.Gln112=) c.648A>G (p.Gln216=) c.345A>G (p.Gln115=) c.792A>G (p.Gln264=) | |
| 7 | g.99767134T>G | CA368370155 | CYP3A4 | c.795A>C (p.Gln265His) n.230A>C c.336A>C (p.Gln112His) c.648A>C (p.Gln216His) c.345A>C (p.Gln115His) c.792A>C (p.Gln264His) | |
| 7 | g.99767135T>A | CA368370158 | CYP3A4 | c.794A>T (p.Gln265Leu) n.229A>T c.335A>T (p.Gln112Leu) c.647A>T (p.Gln216Leu) c.344A>T (p.Gln115Leu) c.791A>T (p.Gln264Leu) | |
| 7 | g.99767135T>C | CA368370157 | CYP3A4 | c.794A>G (p.Gln265Arg) n.229A>G c.335A>G (p.Gln112Arg) c.647A>G (p.Gln216Arg) c.344A>G (p.Gln115Arg) c.791A>G (p.Gln264Arg) | gnomAD v4 |
| 7 | g.99767135T>G | CA368370156 | CYP3A4 | c.794A>C (p.Gln265Pro) n.229A>C c.335A>C (p.Gln112Pro) c.647A>C (p.Gln216Pro) c.344A>C (p.Gln115Pro) c.791A>C (p.Gln264Pro) | |
| 7 | g.99767136G>A | CA368370159 | CYP3A4 | c.793C>T (p.Gln265Ter) n.228C>T c.334C>T (p.Gln112Ter) c.646C>T (p.Gln216Ter) c.343C>T (p.Gln115Ter) c.790C>T (p.Gln264Ter) | gnomAD v4 COSMIC |
| 7 | g.99767136G>C | CA368370160 | CYP3A4 | c.793C>G (p.Gln265Glu) n.228C>G c.334C>G (p.Gln112Glu) c.646C>G (p.Gln216Glu) c.343C>G (p.Gln115Glu) c.790C>G (p.Gln264Glu) | |
| 7 | g.99767136G>T | CA368370161 | CYP3A4 | c.793C>A (p.Gln265Lys) n.228C>A c.334C>A (p.Gln112Lys) c.646C>A (p.Gln216Lys) c.343C>A (p.Gln115Lys) c.790C>A (p.Gln264Lys) | |
| 7 | g.99767137T>A | CA456689613 | CYP3A4 | c.792A>T (p.Thr264=) n.227A>T c.333A>T (p.Thr111=) c.645A>T (p.Thr215=) c.342A>T (p.Thr114=) c.789A>T (p.Thr263=) | |
| 7 | g.99767137T>C | CA456689614 | CYP3A4 | c.792A>G (p.Thr264=) n.227A>G c.333A>G (p.Thr111=) c.645A>G (p.Thr215=) c.342A>G (p.Thr114=) c.789A>G (p.Thr263=) | |
| 7 | g.99767137T>G | CA456689615 | CYP3A4 | c.792A>C (p.Thr264=) n.227A>C c.333A>C (p.Thr111=) c.645A>C (p.Thr215=) c.342A>C (p.Thr114=) c.789A>C (p.Thr263=) | |
| 7 | g.99767138G>A | CA368370162 | CYP3A4 | c.791C>T (p.Thr264Ile) n.226C>T c.332C>T (p.Thr111Ile) c.644C>T (p.Thr215Ile) c.341C>T (p.Thr114Ile) c.788C>T (p.Thr263Ile) | gnomAD v4 |
| 7 | g.99767138G>C | CA368370163 | CYP3A4 | c.791C>G (p.Thr264Arg) n.226C>G c.332C>G (p.Thr111Arg) c.644C>G (p.Thr215Arg) c.341C>G (p.Thr114Arg) c.788C>G (p.Thr263Arg) | |
| 7 | g.99767138G>T | CA368370164 | CYP3A4 | c.791C>A (p.Thr264Lys) n.226C>A c.332C>A (p.Thr111Lys) c.644C>A (p.Thr215Lys) c.341C>A (p.Thr114Lys) c.788C>A (p.Thr263Lys) | COSMIC |
| 7 | g.99767139T>A | CA368370165 | CYP3A4 | c.790A>T (p.Thr264Ser) n.225A>T c.331A>T (p.Thr111Ser) c.643A>T (p.Thr215Ser) c.340A>T (p.Thr114Ser) c.787A>T (p.Thr263Ser) | |
| 7 | g.99767139T>C | CA368370166 | CYP3A4 | c.790A>G (p.Thr264Ala) n.225A>G c.331A>G (p.Thr111Ala) c.643A>G (p.Thr215Ala) c.340A>G (p.Thr114Ala) c.787A>G (p.Thr263Ala) | |
| 7 | g.99767139T>G | CA368370167 | CYP3A4 | c.790A>C (p.Thr264Pro) n.225A>C c.331A>C (p.Thr111Pro) c.643A>C (p.Thr215Pro) c.340A>C (p.Thr114Pro) c.787A>C (p.Thr263Pro) | |
| 7 | g.99767140A= | CA1729179926 | CYP3A4 | c.789T= (p.Asp263=) n.224T= c.330T= (p.Asp110=) c.642T= (p.Asp214=) c.339T= (p.Asp113=) c.786T= (p.Asp262=) | |
| 7 | g.99767140A>C | CA368370168 | CYP3A4 | c.789T>G (p.Asp263Glu) n.224T>G c.330T>G (p.Asp110Glu) c.642T>G (p.Asp214Glu) c.339T>G (p.Asp113Glu) c.786T>G (p.Asp262Glu) | |
| 7 | g.99767140A>G | CA4369644 | CYP3A4 | c.789T>C (p.Asp263=) n.224T>C c.330T>C (p.Asp110=) c.642T>C (p.Asp214=) c.339T>C (p.Asp113=) c.786T>C (p.Asp262=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767140A>T | CA368370169 | CYP3A4 | c.789T>A (p.Asp263Glu) n.224T>A c.330T>A (p.Asp110Glu) c.642T>A (p.Asp214Glu) c.339T>A (p.Asp113Glu) c.786T>A (p.Asp262Glu) | |
| 7 | g.99767141T>A | CA368370172 | CYP3A4 | c.788A>T (p.Asp263Val) n.223A>T c.329A>T (p.Asp110Val) c.641A>T (p.Asp214Val) c.338A>T (p.Asp113Val) c.785A>T (p.Asp262Val) | |
| 7 | g.99767141T>C | CA368370171 | CYP3A4 | c.788A>G (p.Asp263Gly) n.223A>G c.329A>G (p.Asp110Gly) c.641A>G (p.Asp214Gly) c.338A>G (p.Asp113Gly) c.785A>G (p.Asp262Gly) | |
| 7 | g.99767141T>G | CA368370170 | CYP3A4 | c.788A>C (p.Asp263Ala) n.223A>C c.329A>C (p.Asp110Ala) c.641A>C (p.Asp214Ala) c.338A>C (p.Asp113Ala) c.785A>C (p.Asp262Ala) | |
| 7 | g.99767142C>A | CA368370173 | CYP3A4 | c.787G>T (p.Asp263Tyr) n.222G>T c.328G>T (p.Asp110Tyr) c.640G>T (p.Asp214Tyr) c.337G>T (p.Asp113Tyr) c.784G>T (p.Asp262Tyr) | |
| 7 | g.99767142C= | CA1729179932 | CYP3A4 | c.787G= (p.Asp263=) n.222G= c.328G= (p.Asp110=) c.640G= (p.Asp214=) c.337G= (p.Asp113=) c.784G= (p.Asp262=) | |
| 7 | g.99767142C>G | CA368370174 | CYP3A4 | c.787G>C (p.Asp263His) n.222G>C c.328G>C (p.Asp110His) c.640G>C (p.Asp214His) c.337G>C (p.Asp113His) c.784G>C (p.Asp262His) | |
| 7 | g.99767142C>T | CA163153063 | CYP3A4 | c.787G>A (p.Asp263Asn) n.222G>A c.328G>A (p.Asp110Asn) c.640G>A (p.Asp214Asn) c.337G>A (p.Asp113Asn) c.784G>A (p.Asp262Asn) | dbSNP |
| 7 | g.99767143T>A | CA368370175 | CYP3A4 | c.786A>T (p.Glu262Asp) n.221A>T c.327A>T (p.Glu109Asp) c.639A>T (p.Glu213Asp) c.336A>T (p.Glu112Asp) c.783A>T (p.Glu261Asp) | gnomAD v4 |
| 7 | g.99767143T>C | CA456689638 | CYP3A4 | c.786A>G (p.Glu262=) n.221A>G c.327A>G (p.Glu109=) c.639A>G (p.Glu213=) c.336A>G (p.Glu112=) c.783A>G (p.Glu261=) | |
| 7 | g.99767143T>G | CA368370176 | CYP3A4 | c.786A>C (p.Glu262Asp) n.221A>C c.327A>C (p.Glu109Asp) c.639A>C (p.Glu213Asp) c.336A>C (p.Glu112Asp) c.783A>C (p.Glu261Asp) | |
| 7 | g.99767144T>A | CA368370177 | CYP3A4 | c.785A>T (p.Glu262Val) n.220A>T c.326A>T (p.Glu109Val) c.638A>T (p.Glu213Val) c.335A>T (p.Glu112Val) c.782A>T (p.Glu261Val) | |
| 7 | g.99767144T>C | CA368370178 | CYP3A4 | c.785A>G (p.Glu262Gly) n.220A>G c.326A>G (p.Glu109Gly) c.638A>G (p.Glu213Gly) c.335A>G (p.Glu112Gly) c.782A>G (p.Glu261Gly) | |
| 7 | g.99767144T>G | CA368370179 | CYP3A4 | c.785A>C (p.Glu262Ala) n.220A>C c.326A>C (p.Glu109Ala) c.638A>C (p.Glu213Ala) c.335A>C (p.Glu112Ala) c.782A>C (p.Glu261Ala) | |
| 7 | g.99767145C>A | CA368370180 | CYP3A4 | c.784G>T (p.Glu262Ter) n.219G>T c.325G>T (p.Glu109Ter) c.637G>T (p.Glu213Ter) c.334G>T (p.Glu112Ter) c.781G>T (p.Glu261Ter) | |
| 7 | g.99767145C= | CA1729179938 | CYP3A4 | c.784G= (p.Glu262=) n.219G= c.325G= (p.Glu109=) c.637G= (p.Glu213=) c.334G= (p.Glu112=) c.781G= (p.Glu261=) | |
| 7 | g.99767145C>G | CA368370181 | CYP3A4 | c.784G>C (p.Glu262Gln) n.219G>C c.325G>C (p.Glu109Gln) c.637G>C (p.Glu213Gln) c.334G>C (p.Glu112Gln) c.781G>C (p.Glu261Gln) | |
| 7 | g.99767145C>T | CA4369645 | CYP3A4 | c.784G>A (p.Glu262Lys) n.219G>A c.325G>A (p.Glu109Lys) c.637G>A (p.Glu213Lys) c.334G>A (p.Glu112Lys) c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.99767146G>A | CA456689646 | CYP3A4 | c.783C>T (p.Leu261=) n.218C>T c.324C>T (p.Leu108=) c.636C>T (p.Leu212=) c.333C>T (p.Leu111=) c.780C>T (p.Leu260=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767146G>C | CA456689648 | CYP3A4 | c.783C>G (p.Leu261=) n.218C>G c.324C>G (p.Leu108=) c.636C>G (p.Leu212=) c.333C>G (p.Leu111=) c.780C>G (p.Leu260=) | dbSNP |
| 7 | g.99767146G= | CA1729179941 | CYP3A4 | c.783C= (p.Leu261=) n.218C= c.324C= (p.Leu108=) c.636C= (p.Leu212=) c.333C= (p.Leu111=) c.780C= (p.Leu260=) | |
| 7 | g.99767146G>T | CA4369646 | CYP3A4 | c.783C>A (p.Leu261=) n.218C>A c.324C>A (p.Leu108=) c.636C>A (p.Leu212=) c.333C>A (p.Leu111=) c.780C>A (p.Leu260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767147A>C | CA368370182 | CYP3A4 | c.782T>G (p.Leu261Arg) n.217T>G c.323T>G (p.Leu108Arg) c.635T>G (p.Leu212Arg) c.332T>G (p.Leu111Arg) c.779T>G (p.Leu260Arg) | |
| 7 | g.99767147A>G | CA368370183 | CYP3A4 | c.782T>C (p.Leu261Pro) n.217T>C c.323T>C (p.Leu108Pro) c.635T>C (p.Leu212Pro) c.332T>C (p.Leu111Pro) c.779T>C (p.Leu260Pro) | |
| 7 | g.99767147A>T | CA368370184 | CYP3A4 | c.782T>A (p.Leu261His) n.217T>A c.323T>A (p.Leu108His) c.635T>A (p.Leu212His) c.332T>A (p.Leu111His) c.779T>A (p.Leu260His) | |
| 7 | g.99767148G>A | CA368370185 | CYP3A4 | c.781C>T (p.Leu261Phe) n.216C>T c.322C>T (p.Leu108Phe) c.634C>T (p.Leu212Phe) c.331C>T (p.Leu111Phe) c.778C>T (p.Leu260Phe) | gnomAD v4 |
| 7 | g.99767148G>C | CA368370187 | CYP3A4 | c.781C>G (p.Leu261Val) n.216C>G c.322C>G (p.Leu108Val) c.634C>G (p.Leu212Val) c.331C>G (p.Leu111Val) c.778C>G (p.Leu260Val) | |
| 7 | g.99767148G>T | CA368370186 | CYP3A4 | c.781C>A (p.Leu261Ile) n.216C>A c.322C>A (p.Leu108Ile) c.634C>A (p.Leu212Ile) c.331C>A (p.Leu111Ile) c.778C>A (p.Leu260Ile) | |
| 7 | g.99767149G>A | CA456689659 | CYP3A4 | c.780C>T (p.Arg260=) n.215C>T c.321C>T (p.Arg107=) c.633C>T (p.Arg211=) c.330C>T (p.Arg110=) c.777C>T (p.Arg259=) | |
| 7 | g.99767149G>C | CA456689662 | CYP3A4 | c.780C>G (p.Arg260=) n.215C>G c.321C>G (p.Arg107=) c.633C>G (p.Arg211=) c.330C>G (p.Arg110=) c.777C>G (p.Arg259=) | |
| 7 | g.99767149G>T | CA456689661 | CYP3A4 | c.780C>A (p.Arg260=) n.215C>A c.321C>A (p.Arg107=) c.633C>A (p.Arg211=) c.330C>A (p.Arg110=) c.777C>A (p.Arg259=) | |
| 7 | g.99767150C>A | CA368370188 | CYP3A4 | c.779G>T (p.Arg260Leu) n.214G>T c.320G>T (p.Arg107Leu) c.632G>T (p.Arg211Leu) c.329G>T (p.Arg110Leu) c.776G>T (p.Arg259Leu) | |
| 7 | g.99767150C= | CA1729179944 | CYP3A4 | c.779G= (p.Arg260=) n.214G= c.320G= (p.Arg107=) c.632G= (p.Arg211=) c.329G= (p.Arg110=) c.776G= (p.Arg259=) | |
| 7 | g.99767150C>G | CA368370189 | CYP3A4 | c.779G>C (p.Arg260Pro) n.214G>C c.320G>C (p.Arg107Pro) c.632G>C (p.Arg211Pro) c.329G>C (p.Arg110Pro) c.776G>C (p.Arg259Pro) | |
| 7 | g.99767150C>T | CA4369647 | CYP3A4 | c.779G>A (p.Arg260His) n.214G>A c.320G>A (p.Arg107His) c.632G>A (p.Arg211His) c.329G>A (p.Arg110His) c.776G>A (p.Arg259His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767151G>A | CA4369648 | CYP3A4 | c.778C>T (p.Arg260Cys) n.213C>T c.319C>T (p.Arg107Cys) c.631C>T (p.Arg211Cys) c.328C>T (p.Arg110Cys) c.775C>T (p.Arg259Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767151G>C | CA368370190 | CYP3A4 | c.778C>G (p.Arg260Gly) n.213C>G c.319C>G (p.Arg107Gly) c.631C>G (p.Arg211Gly) c.328C>G (p.Arg110Gly) c.775C>G (p.Arg259Gly) | |
| 7 | g.99767151G= | CA1729179947 | CYP3A4 | c.778C= (p.Arg260=) n.213C= c.319C= (p.Arg107=) c.631C= (p.Arg211=) c.328C= (p.Arg110=) c.775C= (p.Arg259=) | |
| 7 | g.99767151G>T | CA368370191 | CYP3A4 | c.778C>A (p.Arg260Ser) n.213C>A c.319C>A (p.Arg107Ser) c.631C>A (p.Arg211Ser) c.328C>A (p.Arg110Ser) c.775C>A (p.Arg259Ser) | dbSNP |
| 7 | g.99767152A>C | CA368370192 | CYP3A4 | c.777T>G (p.Ser259Arg) n.212T>G c.318T>G (p.Ser106Arg) c.630T>G (p.Ser210Arg) c.327T>G (p.Ser109Arg) c.774T>G (p.Ser258Arg) | gnomAD v4 |
| 7 | g.99767152A>G | CA456689670 | CYP3A4 | c.777T>C (p.Ser259=) n.212T>C c.318T>C (p.Ser106=) c.630T>C (p.Ser210=) c.327T>C (p.Ser109=) c.774T>C (p.Ser258=) | dbSNP |
| 7 | g.99767152A>T | CA368370193 | CYP3A4 | c.777T>A (p.Ser259Arg) n.212T>A c.318T>A (p.Ser106Arg) c.630T>A (p.Ser210Arg) c.327T>A (p.Ser109Arg) c.774T>A (p.Ser258Arg) | |
| 7 | g.99767152_99767156delinsACTTT | CA1729179949 | CYP3A4 | c.773_777delinsAAAGT (p.Glu258=) n.208_212delinsAAAGT c.314_318delinsAAAGT (p.Glu105=) c.626_630delinsAAAGT (p.Glu209=) c.323_327delinsAAAGT (p.Glu108=) c.770_774delinsAAAGT (p.Glu257=) | |
| 7 | g.99767153C>A | CA368370194 | CYP3A4 | c.776G>T (p.Ser259Ile) n.211G>T c.317G>T (p.Ser106Ile) c.629G>T (p.Ser210Ile) c.326G>T (p.Ser109Ile) c.773G>T (p.Ser258Ile) | |
| 7 | g.99767153C>G | CA368370195 | CYP3A4 | c.776G>C (p.Ser259Thr) n.211G>C c.317G>C (p.Ser106Thr) c.629G>C (p.Ser210Thr) c.326G>C (p.Ser109Thr) c.773G>C (p.Ser258Thr) | dbSNP |
| 7 | g.99767153C>T | CA368370196 | CYP3A4 | c.776G>A (p.Ser259Asn) n.211G>A c.317G>A (p.Ser106Asn) c.629G>A (p.Ser210Asn) c.326G>A (p.Ser109Asn) c.773G>A (p.Ser258Asn) | |
| 7 | g.99767158_99767161del | CA1729179953 | CYP3A4 | c.773_776del (p.Glu258ValfsTer16) n.208_211del c.314_317del (p.Glu105ValfsTer16) c.626_629del (p.Glu209ValfsTer16) c.323_326del (p.Glu108ValfsTer16) c.770_773del (p.Glu257ValfsTer16) | dbSNP |
| 7 | g.99767154T>A | CA368370197 | CYP3A4 | c.775A>T (p.Ser259Cys) n.210A>T c.316A>T (p.Ser106Cys) c.628A>T (p.Ser210Cys) c.325A>T (p.Ser109Cys) c.772A>T (p.Ser258Cys) | |
| 7 | g.99767154T>C | CA368370199 | CYP3A4 | c.775A>G (p.Ser259Gly) n.210A>G c.316A>G (p.Ser106Gly) c.628A>G (p.Ser210Gly) c.325A>G (p.Ser109Gly) c.772A>G (p.Ser258Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767154T>G | CA368370198 | CYP3A4 | c.775A>C (p.Ser259Arg) n.210A>C c.316A>C (p.Ser106Arg) c.628A>C (p.Ser210Arg) c.325A>C (p.Ser109Arg) c.772A>C (p.Ser258Arg) | |
| 7 | g.99767154T= | CA1729179954 | CYP3A4 | c.775A= (p.Ser259=) n.210A= c.316A= (p.Ser106=) c.628A= (p.Ser210=) c.325A= (p.Ser109=) c.772A= (p.Ser258=) | |
| 7 | g.99767155T>A | CA368370200 | CYP3A4 | c.774A>T (p.Glu258Asp) n.209A>T c.315A>T (p.Glu105Asp) c.627A>T (p.Glu209Asp) c.324A>T (p.Glu108Asp) c.771A>T (p.Glu257Asp) | |
| 7 | g.99767155T>C | CA456689678 | CYP3A4 | c.774A>G (p.Glu258=) n.209A>G c.315A>G (p.Glu105=) c.627A>G (p.Glu209=) c.324A>G (p.Glu108=) c.771A>G (p.Glu257=) | |
| 7 | g.99767155T>G | CA368370201 | CYP3A4 | c.774A>C (p.Glu258Asp) n.209A>C c.315A>C (p.Glu105Asp) c.627A>C (p.Glu209Asp) c.324A>C (p.Glu108Asp) c.771A>C (p.Glu257Asp) | |
| 7 | g.99767156T>A | CA368370202 | CYP3A4 | c.773A>T (p.Glu258Val) n.208A>T c.314A>T (p.Glu105Val) c.626A>T (p.Glu209Val) c.323A>T (p.Glu108Val) c.770A>T (p.Glu257Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767156T>C | CA368370203 | CYP3A4 | c.773A>G (p.Glu258Gly) n.208A>G c.314A>G (p.Glu105Gly) c.626A>G (p.Glu209Gly) c.323A>G (p.Glu108Gly) c.770A>G (p.Glu257Gly) | |
| 7 | g.99767156T>G | CA368370204 | CYP3A4 | c.773A>C (p.Glu258Ala) n.208A>C c.314A>C (p.Glu105Ala) c.626A>C (p.Glu209Ala) c.323A>C (p.Glu108Ala) c.770A>C (p.Glu257Ala) | |
| 7 | g.99767156T= | CA1729179957 | CYP3A4 | c.773A= (p.Glu258=) n.208A= c.314A= (p.Glu105=) c.626A= (p.Glu209=) c.323A= (p.Glu108=) c.770A= (p.Glu257=) | |
| 7 | g.99767157C>A | CA368370205 | CYP3A4 | c.772G>T (p.Glu258Ter) n.207G>T c.313G>T (p.Glu105Ter) c.625G>T (p.Glu209Ter) c.322G>T (p.Glu108Ter) c.769G>T (p.Glu257Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.99767157C= | CA1729179963 | CYP3A4 | c.772G= (p.Glu258=) n.207G= c.313G= (p.Glu105=) c.625G= (p.Glu209=) c.322G= (p.Glu108=) c.769G= (p.Glu257=) | |
| 7 | g.99767157C>G | CA368370206 | CYP3A4 | c.772G>C (p.Glu258Gln) n.207G>C c.313G>C (p.Glu105Gln) c.625G>C (p.Glu209Gln) c.322G>C (p.Glu108Gln) c.769G>C (p.Glu257Gln) | |
| 7 | g.99767157C>T | CA368370207 | CYP3A4 | c.772G>A (p.Glu258Lys) n.207G>A c.313G>A (p.Glu105Lys) c.625G>A (p.Glu209Lys) c.322G>A (p.Glu108Lys) c.769G>A (p.Glu257Lys) | |
| 7 | g.99767158T>A | CA368370208 | CYP3A4 | c.771A>T (p.Lys257Asn) n.206A>T c.312A>T (p.Lys104Asn) c.624A>T (p.Lys208Asn) c.321A>T (p.Lys107Asn) c.768A>T (p.Lys256Asn) | |
| 7 | g.99767158T>C | CA456689686 | CYP3A4 | c.771A>G (p.Lys257=) n.206A>G c.312A>G (p.Lys104=) c.624A>G (p.Lys208=) c.321A>G (p.Lys107=) c.768A>G (p.Lys256=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99767158T>G | CA368370209 | CYP3A4 | c.771A>C (p.Lys257Asn) n.206A>C c.312A>C (p.Lys104Asn) c.624A>C (p.Lys208Asn) c.321A>C (p.Lys107Asn) c.768A>C (p.Lys256Asn) | |
| 7 | g.99767158T= | CA1729179966 | CYP3A4 | c.771A= (p.Lys257=) n.206A= c.312A= (p.Lys104=) c.624A= (p.Lys208=) c.321A= (p.Lys107=) c.768A= (p.Lys256=) | |
| 7 | g.99767159T>A | CA368370210 | CYP3A4 | c.770A>T (p.Lys257Ile) n.205A>T c.311A>T (p.Lys104Ile) c.623A>T (p.Lys208Ile) c.320A>T (p.Lys107Ile) c.767A>T (p.Lys256Ile) | |
| 7 | g.99767159T>C | CA368370211 | CYP3A4 | c.770A>G (p.Lys257Arg) n.205A>G c.311A>G (p.Lys104Arg) c.623A>G (p.Lys208Arg) c.320A>G (p.Lys107Arg) c.767A>G (p.Lys256Arg) | |
| 7 | g.99767159T>G | CA368370212 | CYP3A4 | c.770A>C (p.Lys257Thr) n.205A>C c.311A>C (p.Lys104Thr) c.623A>C (p.Lys208Thr) c.320A>C (p.Lys107Thr) c.767A>C (p.Lys256Thr) | |
| 7 | g.99767160T>A | CA368370213 | CYP3A4 | c.769A>T (p.Lys257Ter) n.204A>T c.310A>T (p.Lys104Ter) c.622A>T (p.Lys208Ter) c.319A>T (p.Lys107Ter) c.766A>T (p.Lys256Ter) | |
| 7 | g.99767160T>C | CA368370215 | CYP3A4 | c.769A>G (p.Lys257Glu) n.204A>G c.310A>G (p.Lys104Glu) c.622A>G (p.Lys208Glu) c.319A>G (p.Lys107Glu) c.766A>G (p.Lys256Glu) | |
| 7 | g.99767160T>G | CA368370214 | CYP3A4 | c.769A>C (p.Lys257Gln) n.204A>C c.310A>C (p.Lys104Gln) c.622A>C (p.Lys208Gln) c.319A>C (p.Lys107Gln) c.766A>C (p.Lys256Gln) | |
| 7 | g.99767161C>A | CA368370216 | CYP3A4 | c.768G>T (p.Met256Ile) n.203G>T c.309G>T (p.Met103Ile) c.621G>T (p.Met207Ile) c.318G>T (p.Met106Ile) c.765G>T (p.Met255Ile) | |
| 7 | g.99767161C= | CA1729179970 | CYP3A4 | c.768G= (p.Met256=) n.203G= c.309G= (p.Met103=) c.621G= (p.Met207=) c.318G= (p.Met106=) c.765G= (p.Met255=) | |
| 7 | g.99767161C>G | CA368370217 | CYP3A4 | c.768G>C (p.Met256Ile) n.203G>C c.309G>C (p.Met103Ile) c.621G>C (p.Met207Ile) c.318G>C (p.Met106Ile) c.765G>C (p.Met255Ile) | dbSNP |
| 7 | g.99767161C>T | CA368370218 | CYP3A4 | c.768G>A (p.Met256Ile) n.203G>A c.309G>A (p.Met103Ile) c.621G>A (p.Met207Ile) c.318G>A (p.Met106Ile) c.765G>A (p.Met255Ile) | |
| 7 | g.99767162A>C | CA368370219 | CYP3A4 | c.767T>G (p.Met256Arg) n.202T>G c.308T>G (p.Met103Arg) c.620T>G (p.Met207Arg) c.317T>G (p.Met106Arg) c.764T>G (p.Met255Arg) | |
| 7 | g.99767162A>G | CA368370220 | CYP3A4 | c.767T>C (p.Met256Thr) n.202T>C c.308T>C (p.Met103Thr) c.620T>C (p.Met207Thr) c.317T>C (p.Met106Thr) c.764T>C (p.Met255Thr) | |
| 7 | g.99767162A>T | CA368370221 | CYP3A4 | c.767T>A (p.Met256Lys) n.202T>A c.308T>A (p.Met103Lys) c.620T>A (p.Met207Lys) c.317T>A (p.Met106Lys) c.764T>A (p.Met255Lys) | |
| 7 | g.99767163T>A | CA368370222 | CYP3A4 | c.766A>T (p.Met256Leu) n.201A>T c.307A>T (p.Met103Leu) c.619A>T (p.Met207Leu) c.316A>T (p.Met106Leu) c.763A>T (p.Met255Leu) | |
| 7 | g.99767163T>C | CA368370223 | CYP3A4 | c.766A>G (p.Met256Val) n.201A>G c.307A>G (p.Met103Val) c.619A>G (p.Met207Val) c.316A>G (p.Met106Val) c.763A>G (p.Met255Val) | |
| 7 | g.99767163T>G | CA368370224 | CYP3A4 | c.766A>C (p.Met256Leu) n.201A>C c.307A>C (p.Met103Leu) c.619A>C (p.Met207Leu) c.316A>C (p.Met106Leu) c.763A>C (p.Met255Leu) | |
| 7 | g.99767164C>A | CA368370225 | CYP3A4 | c.765G>T (p.Arg255Ser) n.200G>T c.306G>T (p.Arg102Ser) c.618G>T (p.Arg206Ser) c.315G>T (p.Arg105Ser) c.762G>T (p.Arg254Ser) | |
| 7 | g.99767164C>G | CA368370226 | CYP3A4 | c.765G>C (p.Arg255Ser) n.200G>C c.306G>C (p.Arg102Ser) c.618G>C (p.Arg206Ser) c.315G>C (p.Arg105Ser) c.762G>C (p.Arg254Ser) | |
| 7 | g.99767164C>T | CA456689698 | CYP3A4 | c.765G>A (p.Arg255=) n.200G>A c.306G>A (p.Arg102=) c.618G>A (p.Arg206=) c.315G>A (p.Arg105=) c.762G>A (p.Arg254=) | |
| 7 | g.99767165C>A | CA368370227 | CYP3A4 | c.764G>T (p.Arg255Met) n.199G>T c.305G>T (p.Arg102Met) c.617G>T (p.Arg206Met) c.314G>T (p.Arg105Met) c.761G>T (p.Arg254Met) | |
| 7 | g.99767165C= | CA1729179975 | CYP3A4 | c.764G= (p.Arg255=) n.199G= c.305G= (p.Arg102=) c.617G= (p.Arg206=) c.314G= (p.Arg105=) c.761G= (p.Arg254=) | |
| 7 | g.99767165C>G | CA368370228 | CYP3A4 | c.764G>C (p.Arg255Thr) n.199G>C c.305G>C (p.Arg102Thr) c.617G>C (p.Arg206Thr) c.314G>C (p.Arg105Thr) c.761G>C (p.Arg254Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767165C>T | CA4369649 | CYP3A4 | c.764G>A (p.Arg255Lys) n.199G>A c.305G>A (p.Arg102Lys) c.617G>A (p.Arg206Lys) c.314G>A (p.Arg105Lys) c.761G>A (p.Arg254Lys) | dbSNP ExAC gnomAD v2 |
| 7 | g.99767166T>A | CA368370230 | CYP3A4 | c.763A>T (p.Arg255Trp) n.198A>T c.304A>T (p.Arg102Trp) c.616A>T (p.Arg206Trp) c.313A>T (p.Arg105Trp) c.760A>T (p.Arg254Trp) | gnomAD v4 |
| 7 | g.99767166T>C | CA368370229 | CYP3A4 | c.763A>G (p.Arg255Gly) n.198A>G c.304A>G (p.Arg102Gly) c.616A>G (p.Arg206Gly) c.313A>G (p.Arg105Gly) c.760A>G (p.Arg254Gly) | |
| 7 | g.99767166T>G | CA456689706 | CYP3A4 | c.763A>C (p.Arg255=) n.198A>C c.304A>C (p.Arg102=) c.616A>C (p.Arg206=) c.313A>C (p.Arg105=) c.760A>C (p.Arg254=) | |
| 7 | g.99767170del | CA645554515 | CYP3A4 | c.763del (p.Arg255GlyfsTer2) n.198del c.304del (p.Arg102GlyfsTer2) c.616del (p.Arg206GlyfsTer2) c.313del (p.Arg105GlyfsTer2) c.760del (p.Arg254GlyfsTer2) | COSMIC |
| 7 | g.99767167T>A | CA368370232 | CYP3A4 | c.762A>T (p.Lys254Asn) n.197A>T c.303A>T (p.Lys101Asn) c.615A>T (p.Lys205Asn) c.312A>T (p.Lys104Asn) c.759A>T (p.Lys253Asn) | |
| 7 | g.99767167T>C | CA456689709 | CYP3A4 | c.762A>G (p.Lys254=) n.197A>G c.303A>G (p.Lys101=) c.615A>G (p.Lys205=) c.312A>G (p.Lys104=) c.759A>G (p.Lys253=) | |
| 7 | g.99767167T>G | CA368370231 | CYP3A4 | c.762A>C (p.Lys254Asn) n.197A>C c.303A>C (p.Lys101Asn) c.615A>C (p.Lys205Asn) c.312A>C (p.Lys104Asn) c.759A>C (p.Lys253Asn) | |
| 7 | g.99767168T>A | CA368370233 | CYP3A4 | c.761A>T (p.Lys254Ile) n.196A>T c.302A>T (p.Lys101Ile) c.614A>T (p.Lys205Ile) c.311A>T (p.Lys104Ile) c.758A>T (p.Lys253Ile) | |
| 7 | g.99767168T>C | CA368370234 | CYP3A4 | c.761A>G (p.Lys254Arg) n.196A>G c.302A>G (p.Lys101Arg) c.614A>G (p.Lys205Arg) c.311A>G (p.Lys104Arg) c.758A>G (p.Lys253Arg) | |
| 7 | g.99767168T>G | CA368370235 | CYP3A4 | c.761A>C (p.Lys254Thr) n.196A>C c.302A>C (p.Lys101Thr) c.614A>C (p.Lys205Thr) c.311A>C (p.Lys104Thr) c.758A>C (p.Lys253Thr) | |
| 7 | g.99767169T>A | CA368370236 | CYP3A4 | c.760A>T (p.Lys254Ter) n.195A>T c.301A>T (p.Lys101Ter) c.613A>T (p.Lys205Ter) c.310A>T (p.Lys104Ter) c.757A>T (p.Lys253Ter) | |
| 7 | g.99767169T>C | CA368370237 | CYP3A4 | c.760A>G (p.Lys254Glu) n.195A>G c.301A>G (p.Lys101Glu) c.613A>G (p.Lys205Glu) c.310A>G (p.Lys104Glu) c.757A>G (p.Lys253Glu) | |
| 7 | g.99767169T>G | CA368370238 | CYP3A4 | c.760A>C (p.Lys254Gln) n.195A>C c.301A>C (p.Lys101Gln) c.613A>C (p.Lys205Gln) c.310A>C (p.Lys104Gln) c.757A>C (p.Lys253Gln) | |
| 7 | g.99767170T>A | CA456689721 | CYP3A4 | c.759A>T (p.Val253=) n.194A>T c.300A>T (p.Val100=) c.612A>T (p.Val204=) c.309A>T (p.Val103=) c.756A>T (p.Val252=) | |
| 7 | g.99767170T>C | CA456689719 | CYP3A4 | c.759A>G (p.Val253=) n.194A>G c.300A>G (p.Val100=) c.612A>G (p.Val204=) c.309A>G (p.Val103=) c.756A>G (p.Val252=) | |
| 7 | g.99767170T>G | CA456689717 | CYP3A4 | c.759A>C (p.Val253=) n.194A>C c.300A>C (p.Val100=) c.612A>C (p.Val204=) c.309A>C (p.Val103=) c.756A>C (p.Val252=) | |
| 7 | g.99767171A= | CA1729179978 | CYP3A4 | c.758T= (p.Val253=) n.193T= c.299T= (p.Val100=) c.611T= (p.Val204=) c.308T= (p.Val103=) c.755T= (p.Val252=) | |
| 7 | g.99767171A>C | CA368370239 | CYP3A4 | c.758T>G (p.Val253Gly) n.193T>G c.299T>G (p.Val100Gly) c.611T>G (p.Val204Gly) c.308T>G (p.Val103Gly) c.755T>G (p.Val252Gly) | |
| 7 | g.99767171A>G | CA368370240 | CYP3A4 | c.758T>C (p.Val253Ala) n.193T>C c.299T>C (p.Val100Ala) c.611T>C (p.Val204Ala) c.308T>C (p.Val103Ala) c.755T>C (p.Val252Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767171A>T | CA368370241 | CYP3A4 | c.758T>A (p.Val253Glu) n.193T>A c.299T>A (p.Val100Glu) c.611T>A (p.Val204Glu) c.308T>A (p.Val103Glu) c.755T>A (p.Val252Glu) | |
| 7 | g.99767172C>A | CA368370242 | CYP3A4 | c.757G>T (p.Val253Leu) n.192G>T c.298G>T (p.Val100Leu) c.610G>T (p.Val204Leu) c.307G>T (p.Val103Leu) c.754G>T (p.Val252Leu) | |
| 7 | g.99767172C>G | CA368370243 | CYP3A4 | c.757G>C (p.Val253Leu) n.192G>C c.298G>C (p.Val100Leu) c.610G>C (p.Val204Leu) c.307G>C (p.Val103Leu) c.754G>C (p.Val252Leu) | |
| 7 | g.99767172C>T | CA368370244 | CYP3A4 | c.757G>A (p.Val253Ile) n.192G>A c.298G>A (p.Val100Ile) c.610G>A (p.Val204Ile) c.307G>A (p.Val103Ile) c.754G>A (p.Val252Ile) | |
| 7 | g.99767173A>C | CA456689728 | CYP3A4 | c.756T>G (p.Ser252=) n.191T>G c.297T>G (p.Ser99=) c.609T>G (p.Ser203=) c.306T>G (p.Ser102=) c.753T>G (p.Ser251=) | |
| 7 | g.99767173A>G | CA456689729 | CYP3A4 | c.756T>C (p.Ser252=) n.191T>C c.297T>C (p.Ser99=) c.609T>C (p.Ser203=) c.306T>C (p.Ser102=) c.753T>C (p.Ser251=) | gnomAD v4 |
| 7 | g.99767173A>T | CA456689730 | CYP3A4 | c.756T>A (p.Ser252=) n.191T>A c.297T>A (p.Ser99=) c.609T>A (p.Ser203=) c.306T>A (p.Ser102=) c.753T>A (p.Ser251=) | |
| 7 | g.99767174G>A | CA368370245 | CYP3A4 | c.755C>T (p.Ser252Phe) n.190C>T c.296C>T (p.Ser99Phe) c.608C>T (p.Ser203Phe) c.305C>T (p.Ser102Phe) c.752C>T (p.Ser251Phe) | |
| 7 | g.99767174G>C | CA368370247 | CYP3A4 | c.755C>G (p.Ser252Cys) n.190C>G c.296C>G (p.Ser99Cys) c.608C>G (p.Ser203Cys) c.305C>G (p.Ser102Cys) c.752C>G (p.Ser251Cys) | |
| 7 | g.99767174G>T | CA368370246 | CYP3A4 | c.755C>A (p.Ser252Tyr) n.190C>A c.296C>A (p.Ser99Tyr) c.608C>A (p.Ser203Tyr) c.305C>A (p.Ser102Tyr) c.752C>A (p.Ser251Tyr) | |
| 7 | g.99767175A= | CA1729179981 | CYP3A4 | c.754T= (p.Ser252=) n.189T= c.295T= (p.Ser99=) c.607T= (p.Ser203=) c.304T= (p.Ser102=) c.751T= (p.Ser251=) | |
| 7 | g.99767175A>C | CA163153075 | CYP3A4 | c.754T>G (p.Ser252Ala) n.189T>G c.295T>G (p.Ser99Ala) c.607T>G (p.Ser203Ala) c.304T>G (p.Ser102Ala) c.751T>G (p.Ser251Ala) | dbSNP |
| 7 | g.99767175A>G | CA368370248 | CYP3A4 | c.754T>C (p.Ser252Pro) n.189T>C c.295T>C (p.Ser99Pro) c.607T>C (p.Ser203Pro) c.304T>C (p.Ser102Pro) c.751T>C (p.Ser251Pro) | |
| 7 | g.99767175A>T | CA163153077 | CYP3A4 | c.754T>A (p.Ser252Thr) n.189T>A c.295T>A (p.Ser99Thr) c.607T>A (p.Ser203Thr) c.304T>A (p.Ser102Thr) c.751T>A (p.Ser251Thr) | dbSNP gnomAD v4 |
| 7 | g.99767176T>A | CA368370249 | CYP3A4 | c.753A>T (p.Lys251Asn) n.188A>T c.294A>T (p.Lys98Asn) c.606A>T (p.Lys202Asn) c.303A>T (p.Lys101Asn) c.750A>T (p.Lys250Asn) | |
| 7 | g.99767176T>C | CA456689738 | CYP3A4 | c.753A>G (p.Lys251=) n.188A>G c.294A>G (p.Lys98=) c.606A>G (p.Lys202=) c.303A>G (p.Lys101=) c.750A>G (p.Lys250=) | |
| 7 | g.99767176T>G | CA368370250 | CYP3A4 | c.753A>C (p.Lys251Asn) n.188A>C c.294A>C (p.Lys98Asn) c.606A>C (p.Lys202Asn) c.303A>C (p.Lys101Asn) c.750A>C (p.Lys250Asn) | |
| 7 | g.99767177T>A | CA368370251 | CYP3A4 | c.752A>T (p.Lys251Ile) n.187A>T c.293A>T (p.Lys98Ile) c.605A>T (p.Lys202Ile) c.302A>T (p.Lys101Ile) c.749A>T (p.Lys250Ile) | |
| 7 | g.99767177T>C | CA368370252 | CYP3A4 | c.752A>G (p.Lys251Arg) n.187A>G c.293A>G (p.Lys98Arg) c.605A>G (p.Lys202Arg) c.302A>G (p.Lys101Arg) c.749A>G (p.Lys250Arg) | |
| 7 | g.99767177T>G | CA368370253 | CYP3A4 | c.752A>C (p.Lys251Thr) n.187A>C c.293A>C (p.Lys98Thr) c.605A>C (p.Lys202Thr) c.302A>C (p.Lys101Thr) c.749A>C (p.Lys250Thr) | dbSNP gnomAD v2 |
| 7 | g.99767177T= | CA1729179987 | CYP3A4 | c.752A= (p.Lys251=) n.187A= c.293A= (p.Lys98=) c.605A= (p.Lys202=) c.302A= (p.Lys101=) c.749A= (p.Lys250=) | |
| 7 | g.99767178T>A | CA368370254 | CYP3A4 | c.751A>T (p.Lys251Ter) n.186A>T c.292A>T (p.Lys98Ter) c.604A>T (p.Lys202Ter) c.301A>T (p.Lys101Ter) c.748A>T (p.Lys250Ter) | |
| 7 | g.99767178T>C | CA368370255 | CYP3A4 | c.751A>G (p.Lys251Glu) n.186A>G c.292A>G (p.Lys98Glu) c.604A>G (p.Lys202Glu) c.301A>G (p.Lys101Glu) c.748A>G (p.Lys250Glu) | |
| 7 | g.99767178T>G | CA368370256 | CYP3A4 | c.751A>C (p.Lys251Gln) n.186A>C c.292A>C (p.Lys98Gln) c.604A>C (p.Lys202Gln) c.301A>C (p.Lys101Gln) c.748A>C (p.Lys250Gln) | |
| 7 | g.99767179T>A | CA368370258 | CYP3A4 | c.750A>T (p.Arg250Ser) n.185A>T c.291A>T (p.Arg97Ser) c.603A>T (p.Arg201Ser) c.300A>T (p.Arg100Ser) c.747A>T (p.Arg249Ser) | |
| 7 | g.99767179T>C | CA456689745 | CYP3A4 | c.750A>G (p.Arg250=) n.185A>G c.291A>G (p.Arg97=) c.603A>G (p.Arg201=) c.300A>G (p.Arg100=) c.747A>G (p.Arg249=) | |
| 7 | g.99767179T>G | CA368370257 | CYP3A4 | c.750A>C (p.Arg250Ser) n.185A>C c.291A>C (p.Arg97Ser) c.603A>C (p.Arg201Ser) c.300A>C (p.Arg100Ser) c.747A>C (p.Arg249Ser) | |
| 7 | g.99767180C>A | CA368370259 | CYP3A4 | c.749G>T (p.Arg250Ile) n.184G>T c.290G>T (p.Arg97Ile) c.602G>T (p.Arg201Ile) c.299G>T (p.Arg100Ile) c.746G>T (p.Arg249Ile) | |
| 7 | g.99767180C>G | CA368370260 | CYP3A4 | c.749G>C (p.Arg250Thr) n.184G>C c.290G>C (p.Arg97Thr) c.602G>C (p.Arg201Thr) c.299G>C (p.Arg100Thr) c.746G>C (p.Arg249Thr) | |
| 7 | g.99767180C>T | CA368370261 | CYP3A4 | c.749G>A (p.Arg250Lys) n.184G>A c.290G>A (p.Arg97Lys) c.602G>A (p.Arg201Lys) c.299G>A (p.Arg100Lys) c.746G>A (p.Arg249Lys) | |
| 7 | g.99767181T>A | CA368370262 | CYP3A4 | c.748A>T (p.Arg250Ter) n.183A>T c.289A>T (p.Arg97Ter) c.601A>T (p.Arg201Ter) c.298A>T (p.Arg100Ter) c.745A>T (p.Arg249Ter) | |
| 7 | g.99767181T>C | CA368370263 | CYP3A4 | c.748A>G (p.Arg250Gly) n.183A>G c.289A>G (p.Arg97Gly) c.601A>G (p.Arg201Gly) c.298A>G (p.Arg100Gly) c.745A>G (p.Arg249Gly) | |
| 7 | g.99767181T>G | CA456689751 | CYP3A4 | c.748A>C (p.Arg250=) n.183A>C c.289A>C (p.Arg97=) c.601A>C (p.Arg201=) c.298A>C (p.Arg100=) c.745A>C (p.Arg249=) | |
| 7 | g.99767182T>A | CA368370264 | CYP3A4 | c.747A>T (p.Leu249Phe) n.182A>T c.288A>T (p.Leu96Phe) c.600A>T (p.Leu200Phe) c.297A>T (p.Leu99Phe) c.744A>T (p.Leu248Phe) | |
| 7 | g.99767182T>C | CA456689754 | CYP3A4 | c.747A>G (p.Leu249=) n.182A>G c.288A>G (p.Leu96=) c.600A>G (p.Leu200=) c.297A>G (p.Leu99=) c.744A>G (p.Leu248=) | |
| 7 | g.99767182T>G | CA368370265 | CYP3A4 | c.747A>C (p.Leu249Phe) n.182A>C c.288A>C (p.Leu96Phe) c.600A>C (p.Leu200Phe) c.297A>C (p.Leu99Phe) c.744A>C (p.Leu248Phe) | |
| 7 | g.99767182T= | CA1729179990 | CYP3A4 | c.747A= (p.Leu249=) n.182A= c.288A= (p.Leu96=) c.600A= (p.Leu200=) c.297A= (p.Leu99=) c.744A= (p.Leu248=) | |
| 7 | g.99767183A= | CA1729179995 | CYP3A4 | c.746T= (p.Leu249=) n.181T= c.287T= (p.Leu96=) c.599T= (p.Leu200=) c.296T= (p.Leu99=) c.743T= (p.Leu248=) | |
| 7 | g.99767183A>C | CA368370266 | CYP3A4 | c.746T>G (p.Leu249Ter) n.181T>G c.287T>G (p.Leu96Ter) c.599T>G (p.Leu200Ter) c.296T>G (p.Leu99Ter) c.743T>G (p.Leu248Ter) | |
| 7 | g.99767183A>G | CA368370267 | CYP3A4 | c.746T>C (p.Leu249Ser) n.181T>C c.287T>C (p.Leu96Ser) c.599T>C (p.Leu200Ser) c.296T>C (p.Leu99Ser) c.743T>C (p.Leu248Ser) | |
| 7 | g.99767183A>T | CA4369651 | CYP3A4 | c.746T>A (p.Leu249Ter) n.181T>A c.287T>A (p.Leu96Ter) c.599T>A (p.Leu200Ter) c.296T>A (p.Leu99Ter) c.743T>A (p.Leu248Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767188dup | CA4369650 | CYP3A4 | c.746dup (p.Leu249PhefsTer29) n.181dup c.287dup (p.Leu96PhefsTer29) c.599dup (p.Leu200PhefsTer29) c.296dup (p.Leu99PhefsTer29) c.743dup (p.Leu248PhefsTer29) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767184A>C | CA368370268 | CYP3A4 | c.745T>G (p.Leu249Val) n.180T>G c.286T>G (p.Leu96Val) c.598T>G (p.Leu200Val) c.295T>G (p.Leu99Val) c.742T>G (p.Leu248Val) | gnomAD v4 |
| 7 | g.99767184A>G | CA456689760 | CYP3A4 | c.745T>C (p.Leu249=) n.180T>C c.286T>C (p.Leu96=) c.598T>C (p.Leu200=) c.295T>C (p.Leu99=) c.742T>C (p.Leu248=) | |
| 7 | g.99767184A>T | CA368370269 | CYP3A4 | c.745T>A (p.Leu249Ile) n.180T>A c.286T>A (p.Leu96Ile) c.598T>A (p.Leu200Ile) c.295T>A (p.Leu99Ile) c.742T>A (p.Leu248Ile) | |
| 7 | g.99767185A>C | CA368370270 | CYP3A4 | c.744T>G (p.Phe248Leu) n.179T>G c.285T>G (p.Phe95Leu) c.597T>G (p.Phe199Leu) c.294T>G (p.Phe98Leu) c.741T>G (p.Phe247Leu) | |
| 7 | g.99767185A>G | CA456689764 | CYP3A4 | c.744T>C (p.Phe248=) n.179T>C c.285T>C (p.Phe95=) c.597T>C (p.Phe199=) c.294T>C (p.Phe98=) c.741T>C (p.Phe247=) | |
| 7 | g.99767185A>T | CA368370271 | CYP3A4 | c.744T>A (p.Phe248Leu) n.179T>A c.285T>A (p.Phe95Leu) c.597T>A (p.Phe199Leu) c.294T>A (p.Phe98Leu) c.741T>A (p.Phe247Leu) | |
| 7 | g.99767186A>C | CA368370272 | CYP3A4 | c.743T>G (p.Phe248Cys) n.178T>G c.284T>G (p.Phe95Cys) c.596T>G (p.Phe199Cys) c.293T>G (p.Phe98Cys) c.740T>G (p.Phe247Cys) | |
| 7 | g.99767186A>G | CA368370274 | CYP3A4 | c.743T>C (p.Phe248Ser) n.178T>C c.284T>C (p.Phe95Ser) c.596T>C (p.Phe199Ser) c.293T>C (p.Phe98Ser) c.740T>C (p.Phe247Ser) | |
| 7 | g.99767186A>T | CA368370273 | CYP3A4 | c.743T>A (p.Phe248Tyr) n.178T>A c.284T>A (p.Phe95Tyr) c.596T>A (p.Phe199Tyr) c.293T>A (p.Phe98Tyr) c.740T>A (p.Phe247Tyr) | |
| 7 | g.99767187A>C | CA368370275 | CYP3A4 | c.742T>G (p.Phe248Val) n.177T>G c.283T>G (p.Phe95Val) c.595T>G (p.Phe199Val) c.292T>G (p.Phe98Val) c.739T>G (p.Phe247Val) | gnomAD v4 |
| 7 | g.99767187A>G | CA368370276 | CYP3A4 | c.742T>C (p.Phe248Leu) n.177T>C c.283T>C (p.Phe95Leu) c.595T>C (p.Phe199Leu) c.292T>C (p.Phe98Leu) c.739T>C (p.Phe247Leu) | |
| 7 | g.99767187A>T | CA368370277 | CYP3A4 | c.742T>A (p.Phe248Ile) n.177T>A c.283T>A (p.Phe95Ile) c.595T>A (p.Phe199Ile) c.292T>A (p.Phe98Ile) c.739T>A (p.Phe247Ile) | |
| 7 | g.99767188A= | CA1729179999 | CYP3A4 | c.741T= (p.Asn247=) n.176T= c.282T= (p.Asn94=) c.594T= (p.Asn198=) c.291T= (p.Asn97=) c.738T= (p.Asn246=) | |
| 7 | g.99767188A>C | CA368370278 | CYP3A4 | c.741T>G (p.Asn247Lys) n.176T>G c.282T>G (p.Asn94Lys) c.594T>G (p.Asn198Lys) c.291T>G (p.Asn97Lys) c.738T>G (p.Asn246Lys) | |
| 7 | g.99767188A>G | CA456689771 | CYP3A4 | c.741T>C (p.Asn247=) n.176T>C c.282T>C (p.Asn94=) c.594T>C (p.Asn198=) c.291T>C (p.Asn97=) c.738T>C (p.Asn246=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767188A>T | CA368370279 | CYP3A4 | c.741T>A (p.Asn247Lys) n.176T>A c.282T>A (p.Asn94Lys) c.594T>A (p.Asn198Lys) c.291T>A (p.Asn97Lys) c.738T>A (p.Asn246Lys) | COSMIC |
| 7 | g.99767189T>A | CA368370280 | CYP3A4 | c.740A>T (p.Asn247Ile) n.175A>T c.281A>T (p.Asn94Ile) c.593A>T (p.Asn198Ile) c.290A>T (p.Asn97Ile) c.737A>T (p.Asn246Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99767189T>C | CA368370281 | CYP3A4 | c.740A>G (p.Asn247Ser) n.175A>G c.281A>G (p.Asn94Ser) c.593A>G (p.Asn198Ser) c.290A>G (p.Asn97Ser) c.737A>G (p.Asn246Ser) | |
| 7 | g.99767189T>G | CA368370282 | CYP3A4 | c.740A>C (p.Asn247Thr) n.175A>C c.281A>C (p.Asn94Thr) c.593A>C (p.Asn198Thr) c.290A>C (p.Asn97Thr) c.737A>C (p.Asn246Thr) | |
| 7 | g.99767189T= | CA1729180001 | CYP3A4 | c.740A= (p.Asn247=) n.175A= c.281A= (p.Asn94=) c.593A= (p.Asn198=) c.290A= (p.Asn97=) c.737A= (p.Asn246=) | |
| 7 | g.99767190T>A | CA368370283 | CYP3A4 | c.739A>T (p.Asn247Tyr) n.174A>T c.280A>T (p.Asn94Tyr) c.592A>T (p.Asn198Tyr) c.289A>T (p.Asn97Tyr) c.736A>T (p.Asn246Tyr) | |
| 7 | g.99767190T>C | CA4369652 | CYP3A4 | c.739A>G (p.Asn247Asp) n.174A>G c.280A>G (p.Asn94Asp) c.592A>G (p.Asn198Asp) c.289A>G (p.Asn97Asp) c.736A>G (p.Asn246Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767190T>G | CA368370284 | CYP3A4 | c.739A>C (p.Asn247His) n.174A>C c.280A>C (p.Asn94His) c.592A>C (p.Asn198His) c.289A>C (p.Asn97His) c.736A>C (p.Asn246His) | gnomAD v4 COSMIC |
| 7 | g.99767190T= | CA1729180004 | CYP3A4 | c.739A= (p.Asn247=) n.174A= c.280A= (p.Asn94=) c.592A= (p.Asn198=) c.289A= (p.Asn97=) c.736A= (p.Asn246=) | |
| 7 | g.99767191T>A | CA456689777 | CYP3A4 | c.738A>T (p.Thr246=) n.173A>T c.279A>T (p.Thr93=) c.591A>T (p.Thr197=) c.288A>T (p.Thr96=) c.735A>T (p.Thr245=) | |
| 7 | g.99767191T>C | CA456689779 | CYP3A4 | c.738A>G (p.Thr246=) n.173A>G c.279A>G (p.Thr93=) c.591A>G (p.Thr197=) c.288A>G (p.Thr96=) c.735A>G (p.Thr245=) | |
| 7 | g.99767191T>G | CA456689778 | CYP3A4 | c.738A>C (p.Thr246=) n.173A>C c.279A>C (p.Thr93=) c.591A>C (p.Thr197=) c.288A>C (p.Thr96=) c.735A>C (p.Thr245=) | |
| 7 | g.99767192G>A | CA368370287 | CYP3A4 | c.737C>T (p.Thr246Ile) n.172C>T c.278C>T (p.Thr93Ile) c.590C>T (p.Thr197Ile) c.287C>T (p.Thr96Ile) c.734C>T (p.Thr245Ile) | gnomAD v4 |
| 7 | g.99767192G>C | CA368370286 | CYP3A4 | c.737C>G (p.Thr246Arg) n.172C>G c.278C>G (p.Thr93Arg) c.590C>G (p.Thr197Arg) c.287C>G (p.Thr96Arg) c.734C>G (p.Thr245Arg) | |
| 7 | g.99767192G>T | CA368370285 | CYP3A4 | c.737C>A (p.Thr246Lys) n.172C>A c.278C>A (p.Thr93Lys) c.590C>A (p.Thr197Lys) c.287C>A (p.Thr96Lys) c.734C>A (p.Thr245Lys) | |
| 7 | g.99767193T>A | CA368370288 | CYP3A4 | c.736A>T (p.Thr246Ser) n.171A>T c.277A>T (p.Thr93Ser) c.589A>T (p.Thr197Ser) c.286A>T (p.Thr96Ser) c.733A>T (p.Thr245Ser) | |
| 7 | g.99767193T>C | CA368370290 | CYP3A4 | c.736A>G (p.Thr246Ala) n.171A>G c.277A>G (p.Thr93Ala) c.589A>G (p.Thr197Ala) c.286A>G (p.Thr96Ala) c.733A>G (p.Thr245Ala) | |
| 7 | g.99767193T>G | CA368370289 | CYP3A4 | c.736A>C (p.Thr246Pro) n.171A>C c.277A>C (p.Thr93Pro) c.589A>C (p.Thr197Pro) c.286A>C (p.Thr96Pro) c.733A>C (p.Thr245Pro) | |
| 7 | g.99767194A= | CA1729180005 | CYP3A4 | c.735T= (p.Val245=) n.170T= c.276T= (p.Val92=) c.588T= (p.Val196=) c.285T= (p.Val95=) c.732T= (p.Val244=) | |
| 7 | g.99767194A>C | CA4369653 | CYP3A4 | c.735T>G (p.Val245=) n.170T>G c.276T>G (p.Val92=) c.588T>G (p.Val196=) c.285T>G (p.Val95=) c.732T>G (p.Val244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767194A>G | CA456689788 | CYP3A4 | c.735T>C (p.Val245=) n.170T>C c.276T>C (p.Val92=) c.588T>C (p.Val196=) c.285T>C (p.Val95=) c.732T>C (p.Val244=) | |
| 7 | g.99767194A>T | CA456689789 | CYP3A4 | c.735T>A (p.Val245=) n.170T>A c.276T>A (p.Val92=) c.588T>A (p.Val196=) c.285T>A (p.Val95=) c.732T>A (p.Val244=) | |
| 7 | g.99767195A>C | CA368370291 | CYP3A4 | c.734T>G (p.Val245Gly) n.169T>G c.275T>G (p.Val92Gly) c.587T>G (p.Val196Gly) c.284T>G (p.Val95Gly) c.731T>G (p.Val244Gly) | |
| 7 | g.99767195A>G | CA368370292 | CYP3A4 | c.734T>C (p.Val245Ala) n.169T>C c.275T>C (p.Val92Ala) c.587T>C (p.Val196Ala) c.284T>C (p.Val95Ala) c.731T>C (p.Val244Ala) | gnomAD v4 COSMIC |
| 7 | g.99767195A>T | CA368370293 | CYP3A4 | c.734T>A (p.Val245Asp) n.169T>A c.275T>A (p.Val92Asp) c.587T>A (p.Val196Asp) c.284T>A (p.Val95Asp) c.731T>A (p.Val244Asp) | |
| 7 | g.99767196C>A | CA368370294 | CYP3A4 | c.733G>T (p.Val245Phe) n.168G>T c.274G>T (p.Val92Phe) c.586G>T (p.Val196Phe) c.283G>T (p.Val95Phe) c.730G>T (p.Val244Phe) | |
| 7 | g.99767196C>G | CA368370295 | CYP3A4 | c.733G>C (p.Val245Leu) n.168G>C c.274G>C (p.Val92Leu) c.586G>C (p.Val196Leu) c.283G>C (p.Val95Leu) c.730G>C (p.Val244Leu) | |
| 7 | g.99767196C>T | CA368370296 | CYP3A4 | c.733G>A (p.Val245Ile) n.168G>A c.274G>A (p.Val92Ile) c.586G>A (p.Val196Ile) c.283G>A (p.Val95Ile) c.730G>A (p.Val244Ile) | |
| 7 | g.99767197T>A | CA368370297 | CYP3A4 | c.732A>T (p.Glu244Asp) n.167A>T c.273A>T (p.Glu91Asp) c.585A>T (p.Glu195Asp) c.282A>T (p.Glu94Asp) c.729A>T (p.Glu243Asp) | |
| 7 | g.99767197T>C | CA456689799 | CYP3A4 | c.732A>G (p.Glu244=) n.167A>G c.273A>G (p.Glu91=) c.585A>G (p.Glu195=) c.282A>G (p.Glu94=) c.729A>G (p.Glu243=) | |
| 7 | g.99767197T>G | CA368370298 | CYP3A4 | c.732A>C (p.Glu244Asp) n.167A>C c.273A>C (p.Glu91Asp) c.585A>C (p.Glu195Asp) c.282A>C (p.Glu94Asp) c.729A>C (p.Glu243Asp) | |
| 7 | g.99767198T>A | CA368370299 | CYP3A4 | c.731A>T (p.Glu244Val) n.166A>T c.272A>T (p.Glu91Val) c.584A>T (p.Glu195Val) c.281A>T (p.Glu94Val) c.728A>T (p.Glu243Val) | |
| 7 | g.99767198T>C | CA368370300 | CYP3A4 | c.731A>G (p.Glu244Gly) n.166A>G c.272A>G (p.Glu91Gly) c.584A>G (p.Glu195Gly) c.281A>G (p.Glu94Gly) c.728A>G (p.Glu243Gly) | |
| 7 | g.99767198T>G | CA368370301 | CYP3A4 | c.731A>C (p.Glu244Ala) n.166A>C c.272A>C (p.Glu91Ala) c.584A>C (p.Glu195Ala) c.281A>C (p.Glu94Ala) c.728A>C (p.Glu243Ala) | |
| 7 | g.99767199C>A | CA368370302 | CYP3A4 | c.730G>T (p.Glu244Ter) n.165G>T c.271G>T (p.Glu91Ter) c.583G>T (p.Glu195Ter) c.280G>T (p.Glu94Ter) c.727G>T (p.Glu243Ter) | gnomAD v4 COSMIC |
| 7 | g.99767199C>G | CA368370304 | CYP3A4 | c.730G>C (p.Glu244Gln) n.165G>C c.271G>C (p.Glu91Gln) c.583G>C (p.Glu195Gln) c.280G>C (p.Glu94Gln) c.727G>C (p.Glu243Gln) | gnomAD v4 |
| 7 | g.99767199C>T | CA368370303 | CYP3A4 | c.730G>A (p.Glu244Lys) n.165G>A c.271G>A (p.Glu91Lys) c.583G>A (p.Glu195Lys) c.280G>A (p.Glu94Lys) c.727G>A (p.Glu243Lys) | |
| 7 | g.99767200T>A | CA368370305 | CYP3A4 | c.729A>T (p.Arg243Ser) n.164A>T c.270A>T (p.Arg90Ser) c.582A>T (p.Arg194Ser) c.279A>T (p.Arg93Ser) c.726A>T (p.Arg242Ser) | |
| 7 | g.99767200T>C | CA456689808 | CYP3A4 | c.729A>G (p.Arg243=) n.164A>G c.270A>G (p.Arg90=) c.582A>G (p.Arg194=) c.279A>G (p.Arg93=) c.726A>G (p.Arg242=) | |
| 7 | g.99767200T>G | CA368370306 | CYP3A4 | c.729A>C (p.Arg243Ser) n.164A>C c.270A>C (p.Arg90Ser) c.582A>C (p.Arg194Ser) c.279A>C (p.Arg93Ser) c.726A>C (p.Arg242Ser) | |
| 7 | g.99767201C>A | CA368370307 | CYP3A4 | c.728G>T (p.Arg243Ile) n.163G>T c.269G>T (p.Arg90Ile) c.581G>T (p.Arg194Ile) c.278G>T (p.Arg93Ile) c.725G>T (p.Arg242Ile) | |
| 7 | g.99767201C= | CA1729180012 | CYP3A4 | c.728G= (p.Arg243=) n.163G= c.269G= (p.Arg90=) c.581G= (p.Arg194=) c.278G= (p.Arg93=) c.725G= (p.Arg242=) | |
| 7 | g.99767201C>G | CA4369654 | CYP3A4 | c.728G>C (p.Arg243Thr) n.163G>C c.269G>C (p.Arg90Thr) c.581G>C (p.Arg194Thr) c.278G>C (p.Arg93Thr) c.725G>C (p.Arg242Thr) | dbSNP ExAC gnomAD v4 |
| 7 | g.99767201C>T | CA368370308 | CYP3A4 | c.728G>A (p.Arg243Lys) n.163G>A c.269G>A (p.Arg90Lys) c.581G>A (p.Arg194Lys) c.278G>A (p.Arg93Lys) c.725G>A (p.Arg242Lys) | |
| 7 | g.99767202T>A | CA368370309 | CYP3A4 | c.727A>T (p.Arg243Ter) n.162A>T c.268A>T (p.Arg90Ter) c.580A>T (p.Arg194Ter) c.277A>T (p.Arg93Ter) c.724A>T (p.Arg242Ter) | |
| 7 | g.99767202T>C | CA368370310 | CYP3A4 | c.727A>G (p.Arg243Gly) n.162A>G c.268A>G (p.Arg90Gly) c.580A>G (p.Arg194Gly) c.277A>G (p.Arg93Gly) c.724A>G (p.Arg242Gly) | |
| 7 | g.99767202T>G | CA456689818 | CYP3A4 | c.727A>C (p.Arg243=) n.162A>C c.268A>C (p.Arg90=) c.580A>C (p.Arg194=) c.277A>C (p.Arg93=) c.724A>C (p.Arg242=) | |
| 7 | g.99767203T>A | CA456689821 | CYP3A4 | c.726A>T (p.Pro242=) n.161A>T c.267A>T (p.Pro89=) c.579A>T (p.Pro193=) c.276A>T (p.Pro92=) c.723A>T (p.Pro241=) | |
| 7 | g.99767203T>C | CA456689823 | CYP3A4 | c.726A>G (p.Pro242=) n.161A>G c.267A>G (p.Pro89=) c.579A>G (p.Pro193=) c.276A>G (p.Pro92=) c.723A>G (p.Pro241=) | |
| 7 | g.99767203T>G | CA456689824 | CYP3A4 | c.726A>C (p.Pro242=) n.161A>C c.267A>C (p.Pro89=) c.579A>C (p.Pro193=) c.276A>C (p.Pro92=) c.723A>C (p.Pro241=) | |
| 7 | g.99767204G>A | CA163153088 | CYP3A4 | c.725C>T (p.Pro242Leu) n.160C>T c.266C>T (p.Pro89Leu) c.578C>T (p.Pro193Leu) c.275C>T (p.Pro92Leu) c.722C>T (p.Pro241Leu) | dbSNP |
| 7 | g.99767204G>C | CA368370311 | CYP3A4 | c.725C>G (p.Pro242Arg) n.160C>G c.266C>G (p.Pro89Arg) c.578C>G (p.Pro193Arg) c.275C>G (p.Pro92Arg) c.722C>G (p.Pro241Arg) | |
| 7 | g.99767204G= | CA1729180015 | CYP3A4 | c.725C= (p.Pro242=) n.160C= c.266C= (p.Pro89=) c.578C= (p.Pro193=) c.275C= (p.Pro92=) c.722C= (p.Pro241=) | |
| 7 | g.99767204G>T | CA368370312 | CYP3A4 | c.725C>A (p.Pro242Gln) n.160C>A c.266C>A (p.Pro89Gln) c.578C>A (p.Pro193Gln) c.275C>A (p.Pro92Gln) c.722C>A (p.Pro241Gln) | |
| 7 | g.99767205G>A | CA368370314 | CYP3A4 | c.724C>T (p.Pro242Ser) n.159C>T c.265C>T (p.Pro89Ser) c.577C>T (p.Pro193Ser) c.274C>T (p.Pro92Ser) c.721C>T (p.Pro241Ser) | COSMIC |
| 7 | g.99767205G>C | CA368370315 | CYP3A4 | c.724C>G (p.Pro242Ala) n.159C>G c.265C>G (p.Pro89Ala) c.577C>G (p.Pro193Ala) c.274C>G (p.Pro92Ala) c.721C>G (p.Pro241Ala) | |
| 7 | g.99767205G>T | CA368370313 | CYP3A4 | c.724C>A (p.Pro242Thr) n.159C>A c.265C>A (p.Pro89Thr) c.577C>A (p.Pro193Thr) c.274C>A (p.Pro92Thr) c.721C>A (p.Pro241Thr) | |
| 7 | g.99767206A>C | CA368370316 | CYP3A4 | c.723T>G (p.Phe241Leu) n.158T>G c.264T>G (p.Phe88Leu) c.576T>G (p.Phe192Leu) c.273T>G (p.Phe91Leu) c.720T>G (p.Phe240Leu) | gnomAD v4 |
| 7 | g.99767206A>G | CA456689831 | CYP3A4 | c.723T>C (p.Phe241=) n.158T>C c.264T>C (p.Phe88=) c.576T>C (p.Phe192=) c.273T>C (p.Phe91=) c.720T>C (p.Phe240=) | gnomAD v4 |
| 7 | g.99767206A>T | CA368370317 | CYP3A4 | c.723T>A (p.Phe241Leu) n.158T>A c.264T>A (p.Phe88Leu) c.576T>A (p.Phe192Leu) c.273T>A (p.Phe91Leu) c.720T>A (p.Phe240Leu) | |
| 7 | g.99767207A>C | CA368370318 | CYP3A4 | c.722T>G (p.Phe241Cys) n.157T>G c.263T>G (p.Phe88Cys) c.575T>G (p.Phe192Cys) c.272T>G (p.Phe91Cys) c.719T>G (p.Phe240Cys) | |
| 7 | g.99767207A>G | CA368370319 | CYP3A4 | c.722T>C (p.Phe241Ser) n.157T>C c.263T>C (p.Phe88Ser) c.575T>C (p.Phe192Ser) c.272T>C (p.Phe91Ser) c.719T>C (p.Phe240Ser) | |
| 7 | g.99767207A>T | CA368370320 | CYP3A4 | c.722T>A (p.Phe241Tyr) n.157T>A c.263T>A (p.Phe88Tyr) c.575T>A (p.Phe192Tyr) c.272T>A (p.Phe91Tyr) c.719T>A (p.Phe240Tyr) | |
| 7 | g.99767207_99767209delinsAAC | CA1729180018 | CYP3A4 | c.720_722delinsGTT (p.Val240=) n.155_157delinsGTT c.261_263delinsGTT (p.Val87=) c.573_575delinsGTT (p.Val191=) c.270_272delinsGTT (p.Val90=) c.717_719delinsGTT (p.Val239=) | |
| 7 | g.99767208A>C | CA368370321 | CYP3A4 | c.721T>G (p.Phe241Val) n.156T>G c.262T>G (p.Phe88Val) c.574T>G (p.Phe192Val) c.271T>G (p.Phe91Val) c.718T>G (p.Phe240Val) | |
| 7 | g.99767208A>G | CA368370322 | CYP3A4 | c.721T>C (p.Phe241Leu) n.156T>C c.262T>C (p.Phe88Leu) c.574T>C (p.Phe192Leu) c.271T>C (p.Phe91Leu) c.718T>C (p.Phe240Leu) | COSMIC |
| 7 | g.99767208A>T | CA368370323 | CYP3A4 | c.721T>A (p.Phe241Ile) n.156T>A c.262T>A (p.Phe88Ile) c.574T>A (p.Phe192Ile) c.271T>A (p.Phe91Ile) c.718T>A (p.Phe240Ile) | |
| 7 | g.99767213_99767214del | CA163153090 | CYP3A4 | c.720_721del (p.Phe241SerfsTer?) n.155_156del c.261_262del (p.Phe88SerfsTer?) c.573_574del (p.Phe192SerfsTer?) c.270_271del (p.Phe91SerfsTer?) c.717_718del (p.Phe240SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767209C>A | CA456689838 | CYP3A4 | c.720G>T (p.Val240=) n.155G>T c.261G>T (p.Val87=) c.573G>T (p.Val191=) c.270G>T (p.Val90=) c.717G>T (p.Val239=) | |
| 7 | g.99767209C= | CA1729180023 | CYP3A4 | c.720G= (p.Val240=) n.155G= c.261G= (p.Val87=) c.573G= (p.Val191=) c.270G= (p.Val90=) c.717G= (p.Val239=) | |
| 7 | g.99767209C>G | CA456689840 | CYP3A4 | c.720G>C (p.Val240=) n.155G>C c.261G>C (p.Val87=) c.573G>C (p.Val191=) c.270G>C (p.Val90=) c.717G>C (p.Val239=) | |
| 7 | g.99767209C>T | CA456689839 | CYP3A4 | c.720G>A (p.Val240=) n.155G>A c.261G>A (p.Val87=) c.573G>A (p.Val191=) c.270G>A (p.Val90=) c.717G>A (p.Val239=) | |
| 7 | g.99767210A>C | CA368370324 | CYP3A4 | c.719T>G (p.Val240Gly) n.154T>G c.260T>G (p.Val87Gly) c.572T>G (p.Val191Gly) c.269T>G (p.Val90Gly) c.716T>G (p.Val239Gly) | |
| 7 | g.99767210A>G | CA368370325 | CYP3A4 | c.719T>C (p.Val240Ala) n.154T>C c.260T>C (p.Val87Ala) c.572T>C (p.Val191Ala) c.269T>C (p.Val90Ala) c.716T>C (p.Val239Ala) | |
| 7 | g.99767210A>T | CA368370326 | CYP3A4 | c.719T>A (p.Val240Glu) n.154T>A c.260T>A (p.Val87Glu) c.572T>A (p.Val191Glu) c.269T>A (p.Val90Glu) c.716T>A (p.Val239Glu) | |
| 7 | g.99767210dup | CA4369655 | CYP3A4 | c.719dup (p.Phe241ValfsTer?) n.154dup c.260dup (p.Phe88ValfsTer?) c.572dup (p.Phe192ValfsTer?) c.269dup (p.Phe91ValfsTer?) c.716dup (p.Phe240ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767211C>A | CA368370328 | CYP3A4 | c.718G>T (p.Val240Leu) n.153G>T c.259G>T (p.Val87Leu) c.571G>T (p.Val191Leu) c.268G>T (p.Val90Leu) c.715G>T (p.Val239Leu) | |
| 7 | g.99767211C>G | CA368370329 | CYP3A4 | c.718G>C (p.Val240Leu) n.153G>C c.259G>C (p.Val87Leu) c.571G>C (p.Val191Leu) c.268G>C (p.Val90Leu) c.715G>C (p.Val239Leu) | |
| 7 | g.99767211C>T | CA368370327 | CYP3A4 | c.718G>A (p.Val240Met) n.153G>A c.259G>A (p.Val87Met) c.571G>A (p.Val191Met) c.268G>A (p.Val90Met) c.715G>A (p.Val239Met) | |
| 7 | g.99767212A= | CA1729180026 | CYP3A4 | c.717T= (p.Cys239=) n.152T= c.258T= (p.Cys86=) c.570T= (p.Cys190=) c.267T= (p.Cys89=) c.714T= (p.Cys238=) | |
| 7 | g.99767212A>C | CA368370330 | CYP3A4 | c.717T>G (p.Cys239Trp) n.152T>G c.258T>G (p.Cys86Trp) c.570T>G (p.Cys190Trp) c.267T>G (p.Cys89Trp) c.714T>G (p.Cys238Trp) | |
| 7 | g.99767212A>G | CA456689847 | CYP3A4 | c.717T>C (p.Cys239=) n.152T>C c.258T>C (p.Cys86=) c.570T>C (p.Cys190=) c.267T>C (p.Cys89=) c.714T>C (p.Cys238=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99767212A>T | CA368370331 | CYP3A4 | c.717T>A (p.Cys239Ter) n.152T>A c.258T>A (p.Cys86Ter) c.570T>A (p.Cys190Ter) c.267T>A (p.Cys89Ter) c.714T>A (p.Cys238Ter) | |
| 7 | g.99767212dup | CA2557047655 | CYP3A4 | c.717dup (p.Val240CysfsTer?) n.152dup c.258dup (p.Val87CysfsTer?) c.570dup (p.Val191CysfsTer?) c.267dup (p.Val90CysfsTer?) c.714dup (p.Val239CysfsTer?) | |
| 7 | g.99767213C>A | CA4369656 | CYP3A4 | c.716G>T (p.Cys239Phe) n.151G>T c.257G>T (p.Cys86Phe) c.569G>T (p.Cys190Phe) c.266G>T (p.Cys89Phe) c.713G>T (p.Cys238Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99767213C= | CA1729180029 | CYP3A4 | c.716G= (p.Cys239=) n.151G= c.257G= (p.Cys86=) c.569G= (p.Cys190=) c.266G= (p.Cys89=) c.713G= (p.Cys238=) | |
| 7 | g.99767213C>G | CA368370332 | CYP3A4 | c.716G>C (p.Cys239Ser) n.151G>C c.257G>C (p.Cys86Ser) c.569G>C (p.Cys190Ser) c.266G>C (p.Cys89Ser) c.713G>C (p.Cys238Ser) | |
| 7 | g.99767213C>T | CA368370333 | CYP3A4 | c.716G>A (p.Cys239Tyr) n.151G>A c.257G>A (p.Cys86Tyr) c.569G>A (p.Cys190Tyr) c.266G>A (p.Cys89Tyr) c.713G>A (p.Cys238Tyr) | |
| 7 | g.99767214A>C | CA368370336 | CYP3A4 | c.715T>G (p.Cys239Gly) n.150T>G c.256T>G (p.Cys86Gly) c.568T>G (p.Cys190Gly) c.265T>G (p.Cys89Gly) c.712T>G (p.Cys238Gly) | |
| 7 | g.99767214A>G | CA368370335 | CYP3A4 | c.715T>C (p.Cys239Arg) n.150T>C c.256T>C (p.Cys86Arg) c.568T>C (p.Cys190Arg) c.265T>C (p.Cys89Arg) c.712T>C (p.Cys238Arg) | |
| 7 | g.99767214A>T | CA368370334 | CYP3A4 | c.715T>A (p.Cys239Ser) n.150T>A c.256T>A (p.Cys86Ser) c.568T>A (p.Cys190Ser) c.265T>A (p.Cys89Ser) c.712T>A (p.Cys238Ser) | |
| 7 | g.99767215G>A | CA456689852 | CYP3A4 | c.714C>T (p.Ile238=) n.149C>T c.255C>T (p.Ile85=) c.567C>T (p.Ile189=) c.264C>T (p.Ile88=) c.711C>T (p.Ile237=) | |
| 7 | g.99767215G>C | CA368370337 | CYP3A4 | c.714C>G (p.Ile238Met) n.149C>G c.255C>G (p.Ile85Met) c.567C>G (p.Ile189Met) c.264C>G (p.Ile88Met) c.711C>G (p.Ile237Met) | |
| 7 | g.99767215G>T | CA456689856 | CYP3A4 | c.714C>A (p.Ile238=) n.149C>A c.255C>A (p.Ile85=) c.567C>A (p.Ile189=) c.264C>A (p.Ile88=) c.711C>A (p.Ile237=) | |
| 7 | g.99767216A= | CA1729180033 | CYP3A4 | c.713T= (p.Ile238=) n.148T= c.254T= (p.Ile85=) c.566T= (p.Ile189=) c.263T= (p.Ile88=) c.710T= (p.Ile237=) | |
| 7 | g.99767216A>C | CA368370338 | CYP3A4 | c.713T>G (p.Ile238Ser) n.148T>G c.254T>G (p.Ile85Ser) c.566T>G (p.Ile189Ser) c.263T>G (p.Ile88Ser) c.710T>G (p.Ile237Ser) | |
| 7 | g.99767216A>G | CA4369657 | CYP3A4 | c.713T>C (p.Ile238Thr) n.148T>C c.254T>C (p.Ile85Thr) c.566T>C (p.Ile189Thr) c.263T>C (p.Ile88Thr) c.710T>C (p.Ile237Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99767216A>T | CA368370339 | CYP3A4 | c.713T>A (p.Ile238Asn) n.148T>A c.254T>A (p.Ile85Asn) c.566T>A (p.Ile189Asn) c.263T>A (p.Ile88Asn) c.710T>A (p.Ile237Asn) | |
| 7 | g.99767217T>A | CA368370340 | CYP3A4 | c.712A>T (p.Ile238Phe) n.147A>T c.253A>T (p.Ile85Phe) c.565A>T (p.Ile189Phe) c.262A>T (p.Ile88Phe) c.709A>T (p.Ile237Phe) | |
| 7 | g.99767217T>C | CA368370341 | CYP3A4 | c.712A>G (p.Ile238Val) n.147A>G c.253A>G (p.Ile85Val) c.565A>G (p.Ile189Val) c.262A>G (p.Ile88Val) c.709A>G (p.Ile237Val) | |
| 7 | g.99767217T>G | CA368370342 | CYP3A4 | c.712A>C (p.Ile238Leu) n.147A>C c.253A>C (p.Ile85Leu) c.565A>C (p.Ile189Leu) c.262A>C (p.Ile88Leu) c.709A>C (p.Ile237Leu) | |
| 7 | g.99767218A>C | CA368370344 | CYP3A4 | c.711T>G (p.Asn237Lys) n.146T>G c.252T>G (p.Asn84Lys) c.564T>G (p.Asn188Lys) c.261T>G (p.Asn87Lys) c.708T>G (p.Asn236Lys) | |
| 7 | g.99767218A>G | CA456689862 | CYP3A4 | c.711T>C (p.Asn237=) n.146T>C c.252T>C (p.Asn84=) c.564T>C (p.Asn188=) c.261T>C (p.Asn87=) c.708T>C (p.Asn236=) | gnomAD v4 |
| 7 | g.99767218A>T | CA368370343 | CYP3A4 | c.711T>A (p.Asn237Lys) n.146T>A c.252T>A (p.Asn84Lys) c.564T>A (p.Asn188Lys) c.261T>A (p.Asn87Lys) c.708T>A (p.Asn236Lys) | |
| 7 | g.99767219T>A | CA368370345 | CYP3A4 | c.710A>T (p.Asn237Ile) n.145A>T c.251A>T (p.Asn84Ile) c.563A>T (p.Asn188Ile) c.260A>T (p.Asn87Ile) c.707A>T (p.Asn236Ile) | |
| 7 | g.99767219T>C | CA368370347 | CYP3A4 | c.710A>G (p.Asn237Ser) n.145A>G c.251A>G (p.Asn84Ser) c.563A>G (p.Asn188Ser) c.260A>G (p.Asn87Ser) c.707A>G (p.Asn236Ser) | |
| 7 | g.99767219T>G | CA368370346 | CYP3A4 | c.710A>C (p.Asn237Thr) n.145A>C c.251A>C (p.Asn84Thr) c.563A>C (p.Asn188Thr) c.260A>C (p.Asn87Thr) c.707A>C (p.Asn236Thr) | |
| 7 | g.99767220T>A | CA368370348 | CYP3A4 | c.709A>T (p.Asn237Tyr) n.144A>T c.250A>T (p.Asn84Tyr) c.562A>T (p.Asn188Tyr) c.259A>T (p.Asn87Tyr) c.706A>T (p.Asn236Tyr) | |
| 7 | g.99767220T>C | CA368370350 | CYP3A4 | c.709A>G (p.Asn237Asp) n.144A>G c.250A>G (p.Asn84Asp) c.562A>G (p.Asn188Asp) c.259A>G (p.Asn87Asp) c.706A>G (p.Asn236Asp) | |
| 7 | g.99767220T>G | CA368370349 | CYP3A4 | c.709A>C (p.Asn237His) n.144A>C c.250A>C (p.Asn84His) c.562A>C (p.Asn188His) c.259A>C (p.Asn87His) c.706A>C (p.Asn236His) | |
| 7 | g.99767221T>A | CA368370351 | CYP3A4 | c.708A>T (p.Leu236Phe) n.143A>T c.249A>T (p.Leu83Phe) c.561A>T (p.Leu187Phe) c.258A>T (p.Leu86Phe) c.705A>T (p.Leu235Phe) | |
| 7 | g.99767221T>C | CA456689864 | CYP3A4 | c.708A>G (p.Leu236=) n.143A>G c.249A>G (p.Leu83=) c.561A>G (p.Leu187=) c.258A>G (p.Leu86=) c.705A>G (p.Leu235=) | |
| 7 | g.99767221T>G | CA368370352 | CYP3A4 | c.708A>C (p.Leu236Phe) n.143A>C c.249A>C (p.Leu83Phe) c.561A>C (p.Leu187Phe) c.258A>C (p.Leu86Phe) c.705A>C (p.Leu235Phe) | |
| 7 | g.99767222A= | CA1729180035 | CYP3A4 | c.707T= (p.Leu236=) n.142T= c.248T= (p.Leu83=) c.560T= (p.Leu187=) c.257T= (p.Leu86=) c.704T= (p.Leu235=) | |
| 7 | g.99767222A>C | CA368370353 | CYP3A4 | c.707T>G (p.Leu236Ter) n.142T>G c.248T>G (p.Leu83Ter) c.560T>G (p.Leu187Ter) c.257T>G (p.Leu86Ter) c.704T>G (p.Leu235Ter) | dbSNP gnomAD v2 |
| 7 | g.99767222A>G | CA368370354 | CYP3A4 | c.707T>C (p.Leu236Ser) n.142T>C c.248T>C (p.Leu83Ser) c.560T>C (p.Leu187Ser) c.257T>C (p.Leu86Ser) c.704T>C (p.Leu235Ser) | |
| 7 | g.99767222A>T | CA368370355 | CYP3A4 | c.707T>A (p.Leu236Ter) n.142T>A c.248T>A (p.Leu83Ter) c.560T>A (p.Leu187Ter) c.257T>A (p.Leu86Ter) c.704T>A (p.Leu235Ter) |