Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.99768298A>C | CA2683986172 | CYP3A4 | c.670+56T>G (n.670+56T>G) c.211+56T>G (n.211+56T>G) c.523+56T>G (n.523+56T>G) c.220+56T>G (n.220+56T>G) | gnomAD v4 |
7 | g.99768300del | CA2683986171 | CYP3A4 | c.670+56del (n.670+56del) c.211+56del (n.211+56del) c.523+56del (n.523+56del) c.220+56del (n.220+56del) | gnomAD v4 |
7 | g.99768301G>C | CA2683986173 | CYP3A4 | c.670+53C>G (n.670+53C>G) c.211+53C>G (n.211+53C>G) c.523+53C>G (n.523+53C>G) c.220+53C>G (n.220+53C>G) | gnomAD v4 |
7 | g.99768301G>T | CA2578955192 | CYP3A4 | c.670+53C>A (n.670+53C>A) c.211+53C>A (n.211+53C>A) c.523+53C>A (n.523+53C>A) c.220+53C>A (n.220+53C>A) | gnomAD v4 |
7 | g.99768302C>A | CA2683986174 | CYP3A4 | c.670+52G>T (n.670+52G>T) c.211+52G>T (n.211+52G>T) c.523+52G>T (n.523+52G>T) c.220+52G>T (n.220+52G>T) | gnomAD v4 |
7 | g.99768302C= | CA1729180821 | CYP3A4 | c.670+52G= (n.670+52G=) c.211+52G= (n.211+52G=) c.523+52G= (n.523+52G=) c.220+52G= (n.220+52G=) | |
7 | g.99768302C>T | CA1729180822 | CYP3A4 | c.670+52G>A (n.670+52G>A) c.211+52G>A (n.211+52G>A) c.523+52G>A (n.523+52G>A) c.220+52G>A (n.220+52G>A) | dbSNP |
7 | g.99768303A>T | CA2578955193 | CYP3A4 | c.670+51T>A (n.670+51T>A) c.211+51T>A (n.211+51T>A) c.523+51T>A (n.523+51T>A) c.220+51T>A (n.220+51T>A) | |
7 | g.99768304G>A | CA2777115468 | CYP3A4 | c.670+50C>T (n.670+50C>T) c.211+50C>T (n.211+50C>T) c.523+50C>T (n.523+50C>T) c.220+50C>T (n.220+50C>T) | |
7 | g.99768308_99768313dup | CA2683986175 | CYP3A4 | c.670+44_670+49dup (n.670+44_670+49dup) c.211+44_211+49dup (n.211+44_211+49dup) c.523+44_523+49dup (n.523+44_523+49dup) c.220+44_220+49dup (n.220+44_220+49dup) | gnomAD v4 |
7 | g.99768307A= | CA1729180826 | CYP3A4 | c.670+47T= (n.670+47T=) c.211+47T= (n.211+47T=) c.523+47T= (n.523+47T=) c.220+47T= (n.220+47T=) | |
7 | g.99768307A>G | CA576401936 | CYP3A4 | c.670+47T>C (n.670+47T>C) c.211+47T>C (n.211+47T>C) c.523+47T>C (n.523+47T>C) c.220+47T>C (n.220+47T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768307_99768308delinsAT | CA1729180824 | CYP3A4 | c.670+46_670+47delinsAT (n.670+46_670+47delinsAT) c.211+46_211+47delinsAT (n.211+46_211+47delinsAT) c.523+46_523+47delinsAT (n.523+46_523+47delinsAT) c.220+46_220+47delinsAT (n.220+46_220+47delinsAT) | |
7 | g.99768308T>C | CA576401937 | CYP3A4 | c.670+46A>G (n.670+46A>G) c.211+46A>G (n.211+46A>G) c.523+46A>G (n.523+46A>G) c.220+46A>G (n.220+46A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768308T>G | CA2683986177 | CYP3A4 | c.670+46A>C (n.670+46A>C) c.211+46A>C (n.211+46A>C) c.523+46A>C (n.523+46A>C) c.220+46A>C (n.220+46A>C) | gnomAD v4 |
7 | g.99768308T= | CA1729180830 | CYP3A4 | c.670+46A= (n.670+46A=) c.211+46A= (n.211+46A=) c.523+46A= (n.523+46A=) c.220+46A= (n.220+46A=) | |
7 | g.99768312dup | CA2683986176 | CYP3A4 | c.670+46dup (n.670+46dup) c.211+46dup (n.211+46dup) c.523+46dup (n.523+46dup) c.220+46dup (n.220+46dup) | gnomAD v4 |
7 | g.99768312del | CA4369674 | CYP3A4 | c.670+46del (n.670+46del) c.211+46del (n.211+46del) c.523+46del (n.523+46del) c.220+46del (n.220+46del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99768313A>T | CA2683986178 | CYP3A4 | c.670+41T>A (n.670+41T>A) c.211+41T>A (n.211+41T>A) c.523+41T>A (n.523+41T>A) c.220+41T>A (n.220+41T>A) | gnomAD v4 |
7 | g.99768314A= | CA1729180831 | CYP3A4 | c.670+40T= (n.670+40T=) c.211+40T= (n.211+40T=) c.523+40T= (n.523+40T=) c.220+40T= (n.220+40T=) | |
7 | g.99768314A>C | CA1104978597 | CYP3A4 | c.670+40T>G (n.670+40T>G) c.211+40T>G (n.211+40T>G) c.523+40T>G (n.523+40T>G) c.220+40T>G (n.220+40T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768315G>A | CA1729180832 | CYP3A4 | c.670+39C>T (n.670+39C>T) c.211+39C>T (n.211+39C>T) c.523+39C>T (n.523+39C>T) c.220+39C>T (n.220+39C>T) | dbSNP gnomAD v4 |
7 | g.99768315G= | CA1729180833 | CYP3A4 | c.670+39C= (n.670+39C=) c.211+39C= (n.211+39C=) c.523+39C= (n.523+39C=) c.220+39C= (n.220+39C=) | |
7 | g.99768316A>G | CA2683986179 | CYP3A4 | c.670+38T>C (n.670+38T>C) c.211+38T>C (n.211+38T>C) c.523+38T>C (n.523+38T>C) c.220+38T>C (n.220+38T>C) | gnomAD v4 |
7 | g.99768317G>A | CA1729180835 | CYP3A4 | c.670+37C>T (n.670+37C>T) c.211+37C>T (n.211+37C>T) c.523+37C>T (n.523+37C>T) c.220+37C>T (n.220+37C>T) | dbSNP |
7 | g.99768317G= | CA1729180834 | CYP3A4 | c.670+37C= (n.670+37C=) c.211+37C= (n.211+37C=) c.523+37C= (n.523+37C=) c.220+37C= (n.220+37C=) | |
7 | g.99768317G>T | CA1104978603 | CYP3A4 | c.670+37C>A (n.670+37C>A) c.211+37C>A (n.211+37C>A) c.523+37C>A (n.523+37C>A) c.220+37C>A (n.220+37C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768317_99768320del | CA2683986180 | CYP3A4 | c.670+34_670+37del (n.670+34_670+37del) c.211+34_211+37del (n.211+34_211+37del) c.523+34_523+37del (n.523+34_523+37del) c.220+34_220+37del (n.220+34_220+37del) | gnomAD v4 |
7 | g.99768318A= | CA1729180836 | CYP3A4 | c.670+36T= (n.670+36T=) c.211+36T= (n.211+36T=) c.523+36T= (n.523+36T=) c.220+36T= (n.220+36T=) | |
7 | g.99768318A>G | CA844514361 | CYP3A4 | c.670+36T>C (n.670+36T>C) c.211+36T>C (n.211+36T>C) c.523+36T>C (n.523+36T>C) c.220+36T>C (n.220+36T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99768319G>T | CA2683986181 | CYP3A4 | c.670+35C>A (n.670+35C>A) c.211+35C>A (n.211+35C>A) c.523+35C>A (n.523+35C>A) c.220+35C>A (n.220+35C>A) | gnomAD v4 |
7 | g.99768320C>A | CA4369675 | CYP3A4 | c.670+34G>T (n.670+34G>T) c.211+34G>T (n.211+34G>T) c.523+34G>T (n.523+34G>T) c.220+34G>T (n.220+34G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99768320C= | CA1729180837 | CYP3A4 | c.670+34G= (n.670+34G=) c.211+34G= (n.211+34G=) c.523+34G= (n.523+34G=) c.220+34G= (n.220+34G=) | |
7 | g.99768320C>G | CA576401938 | CYP3A4 | c.670+34G>C (n.670+34G>C) c.211+34G>C (n.211+34G>C) c.523+34G>C (n.523+34G>C) c.220+34G>C (n.220+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768320C>T | CA1729180839 | CYP3A4 | c.670+34G>A (n.670+34G>A) c.211+34G>A (n.211+34G>A) c.523+34G>A (n.523+34G>A) c.220+34G>A (n.220+34G>A) | dbSNP |
7 | g.99768321A>G | CA2683986182 | CYP3A4 | c.670+33T>C (n.670+33T>C) c.211+33T>C (n.211+33T>C) c.523+33T>C (n.523+33T>C) c.220+33T>C (n.220+33T>C) | gnomAD v4 |
7 | g.99768324A>G | CA2683986183 | CYP3A4 | c.670+30T>C (n.670+30T>C) c.211+30T>C (n.211+30T>C) c.523+30T>C (n.523+30T>C) c.220+30T>C (n.220+30T>C) | gnomAD v4 |
7 | g.99768325T>G | CA2715604900 | CYP3A4 | c.670+29A>C (n.670+29A>C) c.211+29A>C (n.211+29A>C) c.523+29A>C (n.523+29A>C) c.220+29A>C (n.220+29A>C) | dbSNP |
7 | g.99768328A= | CA1729180842 | CYP3A4 | c.670+26T= (n.670+26T=) c.211+26T= (n.211+26T=) c.523+26T= (n.523+26T=) c.220+26T= (n.220+26T=) | |
7 | g.99768328A>G | CA576401939 | CYP3A4 | c.670+26T>C (n.670+26T>C) c.211+26T>C (n.211+26T>C) c.523+26T>C (n.523+26T>C) c.220+26T>C (n.220+26T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99768328A>T | CA2683986184 | CYP3A4 | c.670+26T>A (n.670+26T>A) c.211+26T>A (n.211+26T>A) c.523+26T>A (n.523+26T>A) c.220+26T>A (n.220+26T>A) | gnomAD v4 |
7 | g.99768330A= | CA1729180843 | CYP3A4 | c.670+24T= (n.670+24T=) c.211+24T= (n.211+24T=) c.523+24T= (n.523+24T=) c.220+24T= (n.220+24T=) | |
7 | g.99768330A>G | CA2578955194 | CYP3A4 | c.670+24T>C (n.670+24T>C) c.211+24T>C (n.211+24T>C) c.523+24T>C (n.523+24T>C) c.220+24T>C (n.220+24T>C) | |
7 | g.99768330A>T | CA163153345 | CYP3A4 | c.670+24T>A (n.670+24T>A) c.211+24T>A (n.211+24T>A) c.523+24T>A (n.523+24T>A) c.220+24T>A (n.220+24T>A) | dbSNP |
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 |
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) |