| 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.99768339T>C | CA2578955195 | CYP3A4 | c.670+15A>G (n.670+15A>G) c.211+15A>G (n.211+15A>G) c.523+15A>G (n.523+15A>G) c.220+15A>G (n.220+15A>G) | gnomAD v4 |
| 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 |