| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.99768351T>A | CA2683986188 | CYP3A4 | c.670+3A>T (n.670+3A>T) c.211+3A>T (n.211+3A>T) c.523+3A>T (n.523+3A>T) c.220+3A>T (n.220+3A>T) | gnomAD v4 |
| 7 | g.99768352A>C | CA368370581 | CYP3A4 | c.670+2T>G (n.670+2T>G) c.211+2T>G (n.211+2T>G) c.523+2T>G (n.523+2T>G) c.220+2T>G (n.220+2T>G) | |
| 7 | g.99768352A>G | CA368370584 | CYP3A4 | c.670+2T>C (n.670+2T>C) c.211+2T>C (n.211+2T>C) c.523+2T>C (n.523+2T>C) c.220+2T>C (n.220+2T>C) | gnomAD v4 |
| 7 | g.99768352A>T | CA368370586 | CYP3A4 | c.670+2T>A (n.670+2T>A) c.211+2T>A (n.211+2T>A) c.523+2T>A (n.523+2T>A) c.220+2T>A (n.220+2T>A) | |
| 7 | g.99768353C>A | CA368370589 | CYP3A4 | c.670+1G>T (n.670+1G>T) c.211+1G>T (n.211+1G>T) c.523+1G>T (n.523+1G>T) c.220+1G>T (n.220+1G>T) | |
| 7 | g.99768353C= | CA1729180850 | CYP3A4 | c.670+1G= (n.670+1G=) c.211+1G= (n.211+1G=) c.523+1G= (n.523+1G=) c.220+1G= (n.220+1G=) | |
| 7 | g.99768353C>G | CA368370590 | CYP3A4 | c.670+1G>C (n.670+1G>C) c.211+1G>C (n.211+1G>C) c.523+1G>C (n.523+1G>C) c.220+1G>C (n.220+1G>C) | |
| 7 | g.99768353C>T | CA368370592 | CYP3A4 | c.670+1G>A (n.670+1G>A) c.211+1G>A (n.211+1G>A) c.523+1G>A (n.523+1G>A) c.220+1G>A (n.220+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99768354T>A | CA368370599 | CYP3A4 | c.670A>T (p.Thr224Ser) c.211A>T (p.Thr71Ser) c.523A>T (p.Thr175Ser) c.220A>T (p.Thr74Ser) c.670A>T (p.Ile224Phe) | |
| 7 | g.99768354T>C | CA368370595 | CYP3A4 | c.670A>G (p.Thr224Ala) c.211A>G (p.Thr71Ala) c.523A>G (p.Thr175Ala) c.220A>G (p.Thr74Ala) c.670A>G (p.Ile224Val) | |
| 7 | g.99768354T>G | CA368370597 | CYP3A4 | c.670A>C (p.Thr224Pro) c.211A>C (p.Thr71Pro) c.523A>C (p.Thr175Pro) c.220A>C (p.Thr74Pro) c.670A>C (p.Ile224Leu) | |
| 7 | g.99768355T>A | CA456690109 | CYP3A4 | c.669A>T (p.Ile223=) c.210A>T (p.Ile70=) c.522A>T (p.Ile174=) c.219A>T (p.Ile73=) | |
| 7 | g.99768355T>C | CA4369679 | CYP3A4 | c.669A>G (p.Ile223Met) c.210A>G (p.Ile70Met) c.522A>G (p.Ile174Met) c.219A>G (p.Ile73Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768355T>G | CA456690110 | CYP3A4 | c.669A>C (p.Ile223=) c.210A>C (p.Ile70=) c.522A>C (p.Ile174=) c.219A>C (p.Ile73=) | |
| 7 | g.99768355T= | CA1729180852 | CYP3A4 | c.669A= (p.Ile223=) c.210A= (p.Ile70=) c.522A= (p.Ile174=) c.219A= (p.Ile73=) | |
| 7 | g.99768355_99768361delinsTATTGAG | CA1729180854 | CYP3A4 | c.663_669delinsCTCAATA (p.Leu221=) c.204_210delinsCTCAATA (p.Leu68=) c.516_522delinsCTCAATA (p.Leu172=) c.213_219delinsCTCAATA (p.Leu71=) | |
| 7 | g.99768356A>C | CA368370604 | CYP3A4 | c.668T>G (p.Ile223Arg) c.209T>G (p.Ile70Arg) c.521T>G (p.Ile174Arg) c.218T>G (p.Ile73Arg) | |
| 7 | g.99768356A>G | CA368370606 | CYP3A4 | c.668T>C (p.Ile223Thr) c.209T>C (p.Ile70Thr) c.521T>C (p.Ile174Thr) c.218T>C (p.Ile73Thr) | |
| 7 | g.99768356A>T | CA368370608 | CYP3A4 | c.668T>A (p.Ile223Lys) c.209T>A (p.Ile70Lys) c.521T>A (p.Ile174Lys) c.218T>A (p.Ile73Lys) | |
| 7 | g.99768357_99768362del | CA1729180855 | CYP3A4 | c.663_668del (p.Ser222_Ile223del) c.204_209del (p.Ser69_Ile70del) c.516_521del (p.Ser173_Ile174del) c.213_218del (p.Ser72_Ile73del) | dbSNP |
| 7 | g.99768357T>A | CA368370611 | CYP3A4 | c.667A>T (p.Ile223Leu) c.208A>T (p.Ile70Leu) c.520A>T (p.Ile174Leu) c.217A>T (p.Ile73Leu) | dbSNP |
| 7 | g.99768357T>C | CA4369680 | CYP3A4 | c.667A>G (p.Ile223Val) c.208A>G (p.Ile70Val) c.520A>G (p.Ile174Val) c.217A>G (p.Ile73Val) | dbSNP ExAC gnomAD v4 |
| 7 | g.99768357T>G | CA4369681 | CYP3A4 | c.667A>C (p.Ile223Leu) c.208A>C (p.Ile70Leu) c.520A>C (p.Ile174Leu) c.217A>C (p.Ile73Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768357T= | CA1729180856 | CYP3A4 | c.667A= (p.Ile223=) c.208A= (p.Ile70=) c.520A= (p.Ile174=) c.217A= (p.Ile73=) | |
| 7 | g.99768358T>A | CA456690111 | CYP3A4 | c.666A>T (p.Ser222=) c.207A>T (p.Ser69=) c.519A>T (p.Ser173=) c.216A>T (p.Ser72=) | |
| 7 | g.99768358T>C | CA456690112 | CYP3A4 | c.666A>G (p.Ser222=) c.207A>G (p.Ser69=) c.519A>G (p.Ser173=) c.216A>G (p.Ser72=) | |
| 7 | g.99768358T>G | CA456690113 | CYP3A4 | c.666A>C (p.Ser222=) c.207A>C (p.Ser69=) c.519A>C (p.Ser173=) c.216A>C (p.Ser72=) | |
| 7 | g.99768359G>A | CA368370615 | CYP3A4 | c.665C>T (p.Ser222Leu) c.206C>T (p.Ser69Leu) c.518C>T (p.Ser173Leu) c.215C>T (p.Ser72Leu) | |
| 7 | g.99768359G>C | CA368370618 | CYP3A4 | c.665C>G (p.Ser222Ter) c.206C>G (p.Ser69Ter) c.518C>G (p.Ser173Ter) c.215C>G (p.Ser72Ter) | |
| 7 | g.99768359G>T | CA368370620 | CYP3A4 | c.665C>A (p.Ser222Ter) c.206C>A (p.Ser69Ter) c.518C>A (p.Ser173Ter) c.215C>A (p.Ser72Ter) | |
| 7 | g.99768360A= | CA1729180857 | CYP3A4 | c.664T= (p.Ser222=) c.205T= (p.Ser69=) c.517T= (p.Ser173=) c.214T= (p.Ser72=) | |
| 7 | g.99768360A>C | CA368370622 | CYP3A4 | c.664T>G (p.Ser222Ala) c.205T>G (p.Ser69Ala) c.517T>G (p.Ser173Ala) c.214T>G (p.Ser72Ala) | |
| 7 | g.99768360A>G | CA4369682 | CYP3A4 | c.664T>C (p.Ser222Pro) c.205T>C (p.Ser69Pro) c.517T>C (p.Ser173Pro) c.214T>C (p.Ser72Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768360A>T | CA368370626 | CYP3A4 | c.664T>A (p.Ser222Thr) c.205T>A (p.Ser69Thr) c.517T>A (p.Ser173Thr) c.214T>A (p.Ser72Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99768361G>A | CA4369683 | CYP3A4 | c.663C>T (p.Leu221=) c.204C>T (p.Leu68=) c.516C>T (p.Leu172=) c.213C>T (p.Leu71=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768361G>C | CA456690114 | CYP3A4 | c.663C>G (p.Leu221=) c.204C>G (p.Leu68=) c.516C>G (p.Leu172=) c.213C>G (p.Leu71=) | |
| 7 | g.99768361G= | CA1729180858 | CYP3A4 | c.663C= (p.Leu221=) c.204C= (p.Leu68=) c.516C= (p.Leu172=) c.213C= (p.Leu71=) | |
| 7 | g.99768361G>T | CA456690115 | CYP3A4 | c.663C>A (p.Leu221=) c.204C>A (p.Leu68=) c.516C>A (p.Leu172=) c.213C>A (p.Leu71=) | |
| 7 | g.99768362A>C | CA368370633 | CYP3A4 | c.662T>G (p.Leu221Arg) c.203T>G (p.Leu68Arg) c.515T>G (p.Leu172Arg) c.212T>G (p.Leu71Arg) | |
| 7 | g.99768362A>G | CA368370631 | CYP3A4 | c.662T>C (p.Leu221Pro) c.203T>C (p.Leu68Pro) c.515T>C (p.Leu172Pro) c.212T>C (p.Leu71Pro) | |
| 7 | g.99768362A>T | CA368370634 | CYP3A4 | c.662T>A (p.Leu221His) c.203T>A (p.Leu68His) c.515T>A (p.Leu172His) c.212T>A (p.Leu71His) | |
| 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.99768363G>A | CA368370635 | CYP3A4 | c.661C>T (p.Leu221Phe) c.202C>T (p.Leu68Phe) c.514C>T (p.Leu172Phe) c.211C>T (p.Leu71Phe) | |
| 7 | g.99768363G>C | CA368370636 | CYP3A4 | c.661C>G (p.Leu221Val) c.202C>G (p.Leu68Val) c.514C>G (p.Leu172Val) c.211C>G (p.Leu71Val) | |
| 7 | g.99768363G>T | CA368370637 | CYP3A4 | c.661C>A (p.Leu221Ile) c.202C>A (p.Leu68Ile) c.514C>A (p.Leu172Ile) c.211C>A (p.Leu71Ile) | |
| 7 | g.99768364A>C | CA368370639 | CYP3A4 | c.660T>G (p.Phe220Leu) c.201T>G (p.Phe67Leu) c.513T>G (p.Phe171Leu) c.210T>G (p.Phe70Leu) | |
| 7 | g.99768364A>G | CA456690116 | CYP3A4 | c.660T>C (p.Phe220=) c.201T>C (p.Phe67=) c.513T>C (p.Phe171=) c.210T>C (p.Phe70=) | |
| 7 | g.99768364A>T | CA368370641 | CYP3A4 | c.660T>A (p.Phe220Leu) c.201T>A (p.Phe67Leu) c.513T>A (p.Phe171Leu) c.210T>A (p.Phe70Leu) | |
| 7 | g.99768365A= | CA1729180859 | CYP3A4 | c.659T= (p.Phe220=) c.200T= (p.Phe67=) c.512T= (p.Phe171=) c.209T= (p.Phe70=) | |
| 7 | g.99768365A>C | CA368370643 | CYP3A4 | c.659T>G (p.Phe220Cys) c.200T>G (p.Phe67Cys) c.512T>G (p.Phe171Cys) c.209T>G (p.Phe70Cys) | dbSNP |