Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.99768338_99768341delinsATAG | CA1729180844 | CYP3A4 | c.670+13_670+16delinsCTAT (n.670+13_670+16delinsCTAT) c.211+13_211+16delinsCTAT (n.211+13_211+16delinsCTAT) c.523+13_523+16delinsCTAT (n.523+13_523+16delinsCTAT) c.220+13_220+16delinsCTAT (n.220+13_220+16delinsCTAT) | |
7 | g.99768343_99768345del | CA844514379 | CYP3A4 | c.670+13_670+15del (n.670+13_670+15del) c.211+13_211+15del (n.211+13_211+15del) c.523+13_523+15del (n.523+13_523+15del) c.220+13_220+15del (n.220+13_220+15del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768340A= | CA1729180845 | CYP3A4 | c.670+14T= (n.670+14T=) c.211+14T= (n.211+14T=) c.523+14T= (n.523+14T=) c.220+14T= (n.220+14T=) | |
7 | g.99768340A>G | CA4369676 | CYP3A4 | c.670+14T>C (n.670+14T>C) c.211+14T>C (n.211+14T>C) c.523+14T>C (n.523+14T>C) c.220+14T>C (n.220+14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768342T>A | CA2683986185 | CYP3A4 | c.670+12A>T (n.670+12A>T) c.211+12A>T (n.211+12A>T) c.523+12A>T (n.523+12A>T) c.220+12A>T (n.220+12A>T) | gnomAD v4 |
7 | g.99768343A= | CA1729180846 | CYP3A4 | c.670+11T= (n.670+11T=) c.211+11T= (n.211+11T=) c.523+11T= (n.523+11T=) c.220+11T= (n.220+11T=) | |
7 | g.99768343A>G | CA1729180847 | CYP3A4 | c.670+11T>C (n.670+11T>C) c.211+11T>C (n.211+11T>C) c.523+11T>C (n.523+11T>C) c.220+11T>C (n.220+11T>C) | dbSNP |
7 | g.99768344G>A | CA2683986186 | CYP3A4 | c.670+10C>T (n.670+10C>T) c.211+10C>T (n.211+10C>T) c.523+10C>T (n.523+10C>T) c.220+10C>T (n.220+10C>T) | gnomAD v4 |
7 | g.99768344G= | CA1729180848 | CYP3A4 | c.670+10C= (n.670+10C=) c.211+10C= (n.211+10C=) c.523+10C= (n.523+10C=) c.220+10C= (n.220+10C=) | |
7 | g.99768344G>T | CA576401940 | CYP3A4 | c.670+10C>A (n.670+10C>A) c.211+10C>A (n.211+10C>A) c.523+10C>A (n.523+10C>A) c.220+10C>A (n.220+10C>A) | dbSNP gnomAD v2 |
7 | g.99768345T>A | CA2715604903 | CYP3A4 | c.670+9A>T (n.670+9A>T) c.211+9A>T (n.211+9A>T) c.523+9A>T (n.523+9A>T) c.220+9A>T (n.220+9A>T) | dbSNP |
7 | g.99768345T>G | CA2715604907 | CYP3A4 | c.670+9A>C (n.670+9A>C) c.211+9A>C (n.211+9A>C) c.523+9A>C (n.523+9A>C) c.220+9A>C (n.220+9A>C) | dbSNP |
7 | g.99768346C>A | CA2683986187 | CYP3A4 | c.670+8G>T (n.670+8G>T) c.211+8G>T (n.211+8G>T) c.523+8G>T (n.523+8G>T) c.220+8G>T (n.220+8G>T) | gnomAD v4 |
7 | g.99768346C= | CA1729180849 | CYP3A4 | c.670+8G= (n.670+8G=) c.211+8G= (n.211+8G=) c.523+8G= (n.523+8G=) c.220+8G= (n.220+8G=) | |
7 | g.99768346C>G | CA4369678 | CYP3A4 | c.670+8G>C (n.670+8G>C) c.211+8G>C (n.211+8G>C) c.523+8G>C (n.523+8G>C) c.220+8G>C (n.220+8G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768346C>T | CA4369677 | CYP3A4 | c.670+8G>A (n.670+8G>A) c.211+8G>A (n.211+8G>A) c.523+8G>A (n.523+8G>A) c.220+8G>A (n.220+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
7 | g.99768365A>G | CA368370645 | CYP3A4 | c.659T>C (p.Phe220Ser) c.200T>C (p.Phe67Ser) c.512T>C (p.Phe171Ser) c.209T>C (p.Phe70Ser) | |
7 | g.99768365A>T | CA368370646 | CYP3A4 | c.659T>A (p.Phe220Tyr) c.200T>A (p.Phe67Tyr) c.512T>A (p.Phe171Tyr) c.209T>A (p.Phe70Tyr) | |
7 | g.99768366A= | CA1729180860 | CYP3A4 | c.658T= (p.Phe220=) c.199T= (p.Phe67=) c.511T= (p.Phe171=) c.208T= (p.Phe70=) | |
7 | g.99768366A>C | CA4369684 | CYP3A4 | c.658T>G (p.Phe220Val) c.199T>G (p.Phe67Val) c.511T>G (p.Phe171Val) c.208T>G (p.Phe70Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768366A>G | CA368370651 | CYP3A4 | c.658T>C (p.Phe220Leu) c.199T>C (p.Phe67Leu) c.511T>C (p.Phe171Leu) c.208T>C (p.Phe70Leu) | |
7 | g.99768366A>T | CA368370653 | CYP3A4 | c.658T>A (p.Phe220Ile) c.199T>A (p.Phe67Ile) c.511T>A (p.Phe171Ile) c.208T>A (p.Phe70Ile) | |
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) |