Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.99767114C>G | CA2578955160 | CYP3A4 | c.798+17G>C (n.798+17G>C) n.233+17G>C c.339+17G>C (n.339+17G>C) c.651+17G>C (n.651+17G>C) c.348+17G>C (n.348+17G>C) c.795+17G>C (n.795+17G>C) | gnomAD v4 |
7 | g.99767114C>T | CA2578955161 | CYP3A4 | c.798+17G>A (n.798+17G>A) n.233+17G>A c.339+17G>A (n.339+17G>A) c.651+17G>A (n.651+17G>A) c.348+17G>A (n.348+17G>A) c.795+17G>A (n.795+17G>A) | gnomAD v4 |
7 | g.99767115T>C | CA2578955162 | CYP3A4 | c.798+16A>G (n.798+16A>G) n.233+16A>G c.339+16A>G (n.339+16A>G) c.651+16A>G (n.651+16A>G) c.348+16A>G (n.348+16A>G) c.795+16A>G (n.795+16A>G) | |
7 | g.99767115_99767118delinsTACC | CA1729179909 | CYP3A4 | c.798+13_798+16delinsGGTA (n.798+13_798+16delinsGGTA) n.233+13_233+16delinsGGTA c.339+13_339+16delinsGGTA (n.339+13_339+16delinsGGTA) c.651+13_651+16delinsGGTA (n.651+13_651+16delinsGGTA) c.348+13_348+16delinsGGTA (n.348+13_348+16delinsGGTA) c.795+13_795+16delinsGGTA (n.795+13_795+16delinsGGTA) | |
7 | g.99767116A>C | CA2518263479 | CYP3A4 | c.798+15T>G (n.798+15T>G) n.233+15T>G c.339+15T>G (n.339+15T>G) c.651+15T>G (n.651+15T>G) c.348+15T>G (n.348+15T>G) c.795+15T>G (n.795+15T>G) | |
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.99767118C>G | CA2578955163 | CYP3A4 | c.798+13G>C (n.798+13G>C) n.233+13G>C c.339+13G>C (n.339+13G>C) c.651+13G>C (n.651+13G>C) c.348+13G>C (n.348+13G>C) c.795+13G>C (n.795+13G>C) | |
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.99767119A= | CA1729179915 | CYP3A4 | c.798+12T= (n.798+12T=) n.233+12T= c.339+12T= (n.339+12T=) c.651+12T= (n.651+12T=) c.348+12T= (n.348+12T=) c.795+12T= (n.795+12T=) | |
7 | g.99767119A>G | CA4369641 | CYP3A4 | c.798+12T>C (n.798+12T>C) n.233+12T>C c.339+12T>C (n.339+12T>C) c.651+12T>C (n.651+12T>C) c.348+12T>C (n.348+12T>C) c.795+12T>C (n.795+12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.99767121C>A | CA2777115396 | CYP3A4 | c.798+10G>T (n.798+10G>T) n.233+10G>T c.339+10G>T (n.339+10G>T) c.651+10G>T (n.651+10G>T) c.348+10G>T (n.348+10G>T) c.795+10G>T (n.795+10G>T) | |
7 | g.99767121C= | CA1729179917 | CYP3A4 | c.798+10G= (n.798+10G=) n.233+10G= c.339+10G= (n.339+10G=) c.651+10G= (n.651+10G=) c.348+10G= (n.348+10G=) c.795+10G= (n.795+10G=) | |
7 | g.99767121C>T | CA4369642 | CYP3A4 | c.798+10G>A (n.798+10G>A) n.233+10G>A c.339+10G>A (n.339+10G>A) c.651+10G>A (n.651+10G>A) c.348+10G>A (n.348+10G>A) c.795+10G>A (n.795+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 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) |