Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.99766339_99766340del | CA2715604225 | CYP3A4 | c.865+38_865+39del (n.865+38_865+39del) n.300+38_300+39del c.406+38_406+39del (n.406+38_406+39del) c.718+38_718+39del (n.718+38_718+39del) c.415+38_415+39del (n.415+38_415+39del) c.862+38_862+39del (n.862+38_862+39del) | dbSNP |
7 | g.99766342_99766352del | CA2683985806 | CYP3A4 | c.865+28_865+38del (n.865+28_865+38del) n.300+28_300+38del c.406+28_406+38del (n.406+28_406+38del) c.718+28_718+38del (n.718+28_718+38del) c.415+28_415+38del (n.415+28_415+38del) c.862+28_862+38del (n.862+28_862+38del) | gnomAD v4 |
7 | g.99766340G>A | CA2683985807 | CYP3A4 | c.865+37C>T (n.865+37C>T) n.300+37C>T c.406+37C>T (n.406+37C>T) c.718+37C>T (n.718+37C>T) c.415+37C>T (n.415+37C>T) c.862+37C>T (n.862+37C>T) | gnomAD v4 |
7 | g.99766341T>G | CA1729179289 | CYP3A4 | c.865+36A>C (n.865+36A>C) n.300+36A>C c.406+36A>C (n.406+36A>C) c.718+36A>C (n.718+36A>C) c.415+36A>C (n.415+36A>C) c.862+36A>C (n.862+36A>C) | dbSNP |
7 | g.99766341T= | CA1729179288 | CYP3A4 | c.865+36A= (n.865+36A=) n.300+36A= c.406+36A= (n.406+36A=) c.718+36A= (n.718+36A=) c.415+36A= (n.415+36A=) c.862+36A= (n.862+36A=) | |
7 | g.99766342G>A | CA576401647 | CYP3A4 | c.865+35C>T (n.865+35C>T) n.300+35C>T c.406+35C>T (n.406+35C>T) c.718+35C>T (n.718+35C>T) c.415+35C>T (n.415+35C>T) c.862+35C>T (n.862+35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766342G= | CA1729179290 | CYP3A4 | c.865+35C= (n.865+35C=) n.300+35C= c.406+35C= (n.406+35C=) c.718+35C= (n.718+35C=) c.415+35C= (n.415+35C=) c.862+35C= (n.862+35C=) | |
7 | g.99766343C>T | CA2683985808 | CYP3A4 | c.865+34G>A (n.865+34G>A) n.300+34G>A c.406+34G>A (n.406+34G>A) c.718+34G>A (n.718+34G>A) c.415+34G>A (n.415+34G>A) c.862+34G>A (n.862+34G>A) | gnomAD v4 |
7 | g.99766344C>T | CA2683985809 | CYP3A4 | c.865+33G>A (n.865+33G>A) n.300+33G>A c.406+33G>A (n.406+33G>A) c.718+33G>A (n.718+33G>A) c.415+33G>A (n.415+33G>A) c.862+33G>A (n.862+33G>A) | gnomAD v4 |
7 | g.99766345C= | CA1729179292 | CYP3A4 | c.865+32G= (n.865+32G=) n.300+32G= c.406+32G= (n.406+32G=) c.718+32G= (n.718+32G=) c.415+32G= (n.415+32G=) c.862+32G= (n.862+32G=) | |
7 | g.99766345C>T | CA163152790 | CYP3A4 | c.865+32G>A (n.865+32G>A) n.300+32G>A c.406+32G>A (n.406+32G>A) c.718+32G>A (n.718+32G>A) c.415+32G>A (n.415+32G>A) c.862+32G>A (n.862+32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766346C>T | CA2578955142 | CYP3A4 | c.865+31G>A (n.865+31G>A) n.300+31G>A c.406+31G>A (n.406+31G>A) c.718+31G>A (n.718+31G>A) c.415+31G>A (n.415+31G>A) c.862+31G>A (n.862+31G>A) | gnomAD v4 |
7 | g.99766347A>G | CA2506712319 | CYP3A4 | c.865+30T>C (n.865+30T>C) n.300+30T>C c.406+30T>C (n.406+30T>C) c.718+30T>C (n.718+30T>C) c.415+30T>C (n.415+30T>C) c.862+30T>C (n.862+30T>C) | |
7 | g.99766348C= | CA1729179295 | CYP3A4 | c.865+29G= (n.865+29G=) n.300+29G= c.406+29G= (n.406+29G=) c.718+29G= (n.718+29G=) c.415+29G= (n.415+29G=) c.862+29G= (n.862+29G=) | |
7 | g.99766348C>G | CA576401649 | CYP3A4 | c.865+29G>C (n.865+29G>C) n.300+29G>C c.406+29G>C (n.406+29G>C) c.718+29G>C (n.718+29G>C) c.415+29G>C (n.415+29G>C) c.862+29G>C (n.862+29G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766348C>T | CA2578955143 | CYP3A4 | c.865+29G>A (n.865+29G>A) n.300+29G>A c.406+29G>A (n.406+29G>A) c.718+29G>A (n.718+29G>A) c.415+29G>A (n.415+29G>A) c.862+29G>A (n.862+29G>A) | gnomAD v4 |
7 | g.99766350A= | CA1729179299 | CYP3A4 | c.865+27T= (n.865+27T=) n.300+27T= c.406+27T= (n.406+27T=) c.718+27T= (n.718+27T=) c.415+27T= (n.415+27T=) c.862+27T= (n.862+27T=) | |
7 | g.99766350A>G | CA844513221 | CYP3A4 | c.865+27T>C (n.865+27T>C) n.300+27T>C c.406+27T>C (n.406+27T>C) c.718+27T>C (n.718+27T>C) c.415+27T>C (n.415+27T>C) c.862+27T>C (n.862+27T>C) | dbSNP gnomAD v4 |
7 | g.99766351G>A | CA2683985810 | CYP3A4 | c.865+26C>T (n.865+26C>T) n.300+26C>T c.406+26C>T (n.406+26C>T) c.718+26C>T (n.718+26C>T) c.415+26C>T (n.415+26C>T) c.862+26C>T (n.862+26C>T) | gnomAD v4 |
7 | g.99766352T>C | CA2683985811 | CYP3A4 | c.865+25A>G (n.865+25A>G) n.300+25A>G c.406+25A>G (n.406+25A>G) c.718+25A>G (n.718+25A>G) c.415+25A>G (n.415+25A>G) c.862+25A>G (n.862+25A>G) | gnomAD v4 |
7 | g.99766353del | CA2683985812 | CYP3A4 | c.865+24del (n.865+24del) n.300+24del c.406+24del (n.406+24del) c.718+24del (n.718+24del) c.415+24del (n.415+24del) c.862+24del (n.862+24del) | gnomAD v4 |
7 | g.99766353A= | CA1729179302 | CYP3A4 | c.865+24T= (n.865+24T=) n.300+24T= c.406+24T= (n.406+24T=) c.718+24T= (n.718+24T=) c.415+24T= (n.415+24T=) c.862+24T= (n.862+24T=) | |
7 | g.99766353A>G | CA576401651 | CYP3A4 | c.865+24T>C (n.865+24T>C) n.300+24T>C c.406+24T>C (n.406+24T>C) c.718+24T>C (n.718+24T>C) c.415+24T>C (n.415+24T>C) c.862+24T>C (n.862+24T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766354G>A | CA4369619 | CYP3A4 | c.865+23C>T (n.865+23C>T) n.300+23C>T c.406+23C>T (n.406+23C>T) c.718+23C>T (n.718+23C>T) c.415+23C>T (n.415+23C>T) c.862+23C>T (n.862+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766354G>C | CA576401653 | CYP3A4 | c.865+23C>G (n.865+23C>G) n.300+23C>G c.406+23C>G (n.406+23C>G) c.718+23C>G (n.718+23C>G) c.415+23C>G (n.415+23C>G) c.862+23C>G (n.862+23C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766354G= | CA1729179305 | CYP3A4 | c.865+23C= (n.865+23C=) n.300+23C= c.406+23C= (n.406+23C=) c.718+23C= (n.718+23C=) c.415+23C= (n.415+23C=) c.862+23C= (n.862+23C=) | |
7 | g.99766355C= | CA1729179308 | CYP3A4 | c.865+22G= (n.865+22G=) n.300+22G= c.406+22G= (n.406+22G=) c.718+22G= (n.718+22G=) c.415+22G= (n.415+22G=) c.862+22G= (n.862+22G=) | |
7 | g.99766355C>T | CA1729179309 | CYP3A4 | c.865+22G>A (n.865+22G>A) n.300+22G>A c.406+22G>A (n.406+22G>A) c.718+22G>A (n.718+22G>A) c.415+22G>A (n.415+22G>A) c.862+22G>A (n.862+22G>A) | dbSNP |
7 | g.99766357C= | CA1729179310 | CYP3A4 | c.865+20G= (n.865+20G=) n.300+20G= c.406+20G= (n.406+20G=) c.718+20G= (n.718+20G=) c.415+20G= (n.415+20G=) c.862+20G= (n.862+20G=) | |
7 | g.99766357C>G | CA844513228 | CYP3A4 | c.865+20G>C (n.865+20G>C) n.300+20G>C c.406+20G>C (n.406+20G>C) c.718+20G>C (n.718+20G>C) c.415+20G>C (n.415+20G>C) c.862+20G>C (n.862+20G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99766362A= | CA1729179312 | CYP3A4 | c.865+15T= (n.865+15T=) n.300+15T= c.406+15T= (n.406+15T=) c.718+15T= (n.718+15T=) c.415+15T= (n.415+15T=) c.862+15T= (n.862+15T=) | |
7 | g.99766362A>T | CA4369620 | CYP3A4 | c.865+15T>A (n.865+15T>A) n.300+15T>A c.406+15T>A (n.406+15T>A) c.718+15T>A (n.718+15T>A) c.415+15T>A (n.415+15T>A) c.862+15T>A (n.862+15T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99766364del | CA2578955144 | CYP3A4 | c.865+15del (n.865+15del) n.300+15del c.406+15del (n.406+15del) c.718+15del (n.718+15del) c.415+15del (n.415+15del) c.862+15del (n.862+15del) | |
7 | g.99766366del | CA2683985813 | CYP3A4 | c.865+11del (n.865+11del) n.300+11del c.406+11del (n.406+11del) c.718+11del (n.718+11del) c.415+11del (n.415+11del) c.862+11del (n.862+11del) | gnomAD v4 |
7 | g.99766366A= | CA1729179315 | CYP3A4 | c.865+11T= (n.865+11T=) n.300+11T= c.406+11T= (n.406+11T=) c.718+11T= (n.718+11T=) c.415+11T= (n.415+11T=) c.862+11T= (n.862+11T=) | |
7 | g.99766366A>C | CA2683985814 | CYP3A4 | c.865+11T>G (n.865+11T>G) n.300+11T>G c.406+11T>G (n.406+11T>G) c.718+11T>G (n.718+11T>G) c.415+11T>G (n.415+11T>G) c.862+11T>G (n.862+11T>G) | gnomAD v4 |
7 | g.99766366A>G | CA1729179317 | CYP3A4 | c.865+11T>C (n.865+11T>C) n.300+11T>C c.406+11T>C (n.406+11T>C) c.718+11T>C (n.718+11T>C) c.415+11T>C (n.415+11T>C) c.862+11T>C (n.862+11T>C) | dbSNP |
7 | g.99766367C= | CA1729179321 | CYP3A4 | c.865+10G= (n.865+10G=) n.300+10G= c.406+10G= (n.406+10G=) c.718+10G= (n.718+10G=) c.415+10G= (n.415+10G=) c.862+10G= (n.862+10G=) | |
7 | g.99766367C>T | CA1729179322 | CYP3A4 | c.865+10G>A (n.865+10G>A) n.300+10G>A c.406+10G>A (n.406+10G>A) c.718+10G>A (n.718+10G>A) c.415+10G>A (n.415+10G>A) c.862+10G>A (n.862+10G>A) | dbSNP |
7 | g.99766369C>A | CA2558754537 | CYP3A4 | c.865+8G>T (n.865+8G>T) n.300+8G>T c.406+8G>T (n.406+8G>T) c.718+8G>T (n.718+8G>T) c.415+8G>T (n.415+8G>T) c.862+8G>T (n.862+8G>T) | |
7 | g.99766369C>G | CA2578955145 | CYP3A4 | c.865+8G>C (n.865+8G>C) n.300+8G>C c.406+8G>C (n.406+8G>C) c.718+8G>C (n.718+8G>C) c.415+8G>C (n.415+8G>C) c.862+8G>C (n.862+8G>C) | |
7 | g.99766370T>A | CA4369621 | CYP3A4 | c.865+7A>T (n.865+7A>T) n.300+7A>T c.406+7A>T (n.406+7A>T) c.718+7A>T (n.718+7A>T) c.415+7A>T (n.415+7A>T) c.862+7A>T (n.862+7A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99766370T= | CA1729179325 | CYP3A4 | c.865+7A= (n.865+7A=) n.300+7A= c.406+7A= (n.406+7A=) c.718+7A= (n.718+7A=) c.415+7A= (n.415+7A=) c.862+7A= (n.862+7A=) | |
7 | g.99766371G>C | CA2683985815 | CYP3A4 | c.865+6C>G (n.865+6C>G) n.300+6C>G c.406+6C>G (n.406+6C>G) c.718+6C>G (n.718+6C>G) c.415+6C>G (n.415+6C>G) c.862+6C>G (n.862+6C>G) | gnomAD v4 |
7 | g.99766371G>T | CA2683985816 | CYP3A4 | c.865+6C>A (n.865+6C>A) n.300+6C>A c.406+6C>A (n.406+6C>A) c.718+6C>A (n.718+6C>A) c.415+6C>A (n.415+6C>A) c.862+6C>A (n.862+6C>A) | gnomAD v4 |
7 | g.99766372G>C | CA2683985817 | CYP3A4 | c.865+5C>G (n.865+5C>G) n.300+5C>G c.406+5C>G (n.406+5C>G) c.718+5C>G (n.718+5C>G) c.415+5C>G (n.415+5C>G) c.862+5C>G (n.862+5C>G) | gnomAD v4 |
7 | g.99766372_99766373delinsGT | CA1729179326 | CYP3A4 | c.865+4_865+5delinsAC (n.865+4_865+5delinsAC) n.300+4_300+5delinsAC c.406+4_406+5delinsAC (n.406+4_406+5delinsAC) c.718+4_718+5delinsAC (n.718+4_718+5delinsAC) c.415+4_415+5delinsAC (n.415+4_415+5delinsAC) c.862+4_862+5delinsAC (n.862+4_862+5delinsAC) | |
7 | g.99766373T>C | CA2578955146 | CYP3A4 | c.865+4A>G (n.865+4A>G) n.300+4A>G c.406+4A>G (n.406+4A>G) c.718+4A>G (n.718+4A>G) c.415+4A>G (n.415+4A>G) c.862+4A>G (n.862+4A>G) | |
7 | g.99766374del | CA4369622 | CYP3A4 | c.865+4del (n.865+4del) n.300+4del c.406+4del (n.406+4del) c.718+4del (n.718+4del) c.415+4del (n.415+4del) c.862+4del (n.862+4del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766375A= | CA1729179330 | CYP3A4 | c.865+2T= (n.865+2T=) n.300+2T= c.406+2T= (n.406+2T=) c.718+2T= (n.718+2T=) c.415+2T= (n.415+2T=) c.862+2T= (n.862+2T=) | |
7 | g.99766375A>C | CA368369971 | CYP3A4 | c.865+2T>G (n.865+2T>G) n.300+2T>G c.406+2T>G (n.406+2T>G) c.718+2T>G (n.718+2T>G) c.415+2T>G (n.415+2T>G) c.862+2T>G (n.862+2T>G) | |
7 | g.99766375A>G | CA368369970 | CYP3A4 | c.865+2T>C (n.865+2T>C) n.300+2T>C c.406+2T>C (n.406+2T>C) c.718+2T>C (n.718+2T>C) c.415+2T>C (n.415+2T>C) c.862+2T>C (n.862+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766375A>T | CA368369969 | CYP3A4 | c.865+2T>A (n.865+2T>A) n.300+2T>A c.406+2T>A (n.406+2T>A) c.718+2T>A (n.718+2T>A) c.415+2T>A (n.415+2T>A) c.862+2T>A (n.862+2T>A) | |
7 | g.99766376C>A | CA368369972 | CYP3A4 | c.865+1G>T (n.865+1G>T) n.300+1G>T c.406+1G>T (n.406+1G>T) c.718+1G>T (n.718+1G>T) c.415+1G>T (n.415+1G>T) c.862+1G>T (n.862+1G>T) | |
7 | g.99766376C>G | CA368369974 | CYP3A4 | c.865+1G>C (n.865+1G>C) n.300+1G>C c.406+1G>C (n.406+1G>C) c.718+1G>C (n.718+1G>C) c.415+1G>C (n.415+1G>C) c.862+1G>C (n.862+1G>C) | gnomAD v4 |
7 | g.99766376C>T | CA368369973 | CYP3A4 | c.865+1G>A (n.865+1G>A) n.300+1G>A c.406+1G>A (n.406+1G>A) c.718+1G>A (n.718+1G>A) c.415+1G>A (n.415+1G>A) c.862+1G>A (n.862+1G>A) | |
7 | g.99766377C>A | CA368369975 | CYP3A4 | c.865G>T (p.Ala289Ser) n.300G>T c.406G>T (p.Ala136Ser) c.718G>T (p.Ala240Ser) c.415G>T (p.Ala139Ser) c.862G>T (p.Ala288Ser) | dbSNP gnomAD v2 COSMIC |
7 | g.99766377C= | CA1729179337 | CYP3A4 | c.865G= (p.Ala289=) n.300G= c.406G= (p.Ala136=) c.718G= (p.Ala240=) c.415G= (p.Ala139=) c.862G= (p.Ala288=) | |
7 | g.99766377C>G | CA368369976 | CYP3A4 | c.865G>C (p.Ala289Pro) n.300G>C c.406G>C (p.Ala136Pro) c.718G>C (p.Ala240Pro) c.415G>C (p.Ala139Pro) c.862G>C (p.Ala288Pro) | |
7 | g.99766377C>T | CA368369977 | CYP3A4 | c.865G>A (p.Ala289Thr) n.300G>A c.406G>A (p.Ala136Thr) c.718G>A (p.Ala240Thr) c.415G>A (p.Ala139Thr) c.862G>A (p.Ala288Thr) | |
7 | g.99766378T>A | CA368369978 | CYP3A4 | c.864A>T (p.Lys288Asn) n.299A>T c.405A>T (p.Lys135Asn) c.717A>T (p.Lys239Asn) c.414A>T (p.Lys138Asn) c.861A>T (p.Lys287Asn) | |
7 | g.99766378T>C | CA456687891 | CYP3A4 | c.864A>G (p.Lys288=) n.299A>G c.405A>G (p.Lys135=) c.717A>G (p.Lys239=) c.414A>G (p.Lys138=) c.861A>G (p.Lys287=) | |
7 | g.99766378T>G | CA368369979 | CYP3A4 | c.864A>C (p.Lys288Asn) n.299A>C c.405A>C (p.Lys135Asn) c.717A>C (p.Lys239Asn) c.414A>C (p.Lys138Asn) c.861A>C (p.Lys287Asn) | |
7 | g.99766380dup | CA2683985818 | CYP3A4 | c.864dup (p.Ala289SerfsTer20) n.299dup c.405dup (p.Ala136SerfsTer20) c.717dup (p.Ala240SerfsTer20) c.414dup (p.Ala139SerfsTer20) c.861dup (p.Ala288SerfsTer20) | gnomAD v4 |
7 | g.99766380del | CA2550201763 | CYP3A4 | c.864del (p.Ala289LeufsTer?) n.299del c.405del (p.Ala136LeufsTer?) c.717del (p.Ala240LeufsTer?) c.414del (p.Ala139LeufsTer?) c.861del (p.Ala288LeufsTer?) | |
7 | g.99766379T>A | CA368369980 | CYP3A4 | c.863A>T (p.Lys288Ile) n.298A>T c.404A>T (p.Lys135Ile) c.716A>T (p.Lys239Ile) c.413A>T (p.Lys138Ile) c.860A>T (p.Lys287Ile) | |
7 | g.99766379T>C | CA368369981 | CYP3A4 | c.863A>G (p.Lys288Arg) n.298A>G c.404A>G (p.Lys135Arg) c.716A>G (p.Lys239Arg) c.413A>G (p.Lys138Arg) c.860A>G (p.Lys287Arg) | dbSNP gnomAD v2 |
7 | g.99766379T>G | CA368369982 | CYP3A4 | c.863A>C (p.Lys288Thr) n.298A>C c.404A>C (p.Lys135Thr) c.716A>C (p.Lys239Thr) c.413A>C (p.Lys138Thr) c.860A>C (p.Lys287Thr) | |
7 | g.99766379T= | CA1729179342 | CYP3A4 | c.863A= (p.Lys288=) n.298A= c.404A= (p.Lys135=) c.716A= (p.Lys239=) c.413A= (p.Lys138=) c.860A= (p.Lys287=) | |
7 | g.99766380T>A | CA368369983 | CYP3A4 | c.862A>T (p.Lys288Ter) n.297A>T c.403A>T (p.Lys135Ter) c.715A>T (p.Lys239Ter) c.412A>T (p.Lys138Ter) c.859A>T (p.Lys287Ter) | |
7 | g.99766380T>C | CA368369984 | CYP3A4 | c.862A>G (p.Lys288Glu) n.297A>G c.403A>G (p.Lys135Glu) c.715A>G (p.Lys239Glu) c.412A>G (p.Lys138Glu) c.859A>G (p.Lys287Glu) | |
7 | g.99766380T>G | CA368369985 | CYP3A4 | c.862A>C (p.Lys288Gln) n.297A>C c.403A>C (p.Lys135Gln) c.715A>C (p.Lys239Gln) c.412A>C (p.Lys138Gln) c.859A>C (p.Lys287Gln) | |
7 | g.99766381G>A | CA456687898 | CYP3A4 | c.861C>T (p.His287=) n.296C>T c.402C>T (p.His134=) c.714C>T (p.His238=) c.411C>T (p.His137=) c.858C>T (p.His286=) | |
7 | g.99766381G>C | CA368369987 | CYP3A4 | c.861C>G (p.His287Gln) n.296C>G c.402C>G (p.His134Gln) c.714C>G (p.His238Gln) c.411C>G (p.His137Gln) c.858C>G (p.His286Gln) | |
7 | g.99766381G>T | CA368369986 | CYP3A4 | c.861C>A (p.His287Gln) n.296C>A c.402C>A (p.His134Gln) c.714C>A (p.His238Gln) c.411C>A (p.His137Gln) c.858C>A (p.His286Gln) | |
7 | g.99766382T>A | CA368369988 | CYP3A4 | c.860A>T (p.His287Leu) n.295A>T c.401A>T (p.His134Leu) c.713A>T (p.His238Leu) c.410A>T (p.His137Leu) c.857A>T (p.His286Leu) | |
7 | g.99766382T>C | CA368369989 | CYP3A4 | c.860A>G (p.His287Arg) n.295A>G c.401A>G (p.His134Arg) c.713A>G (p.His238Arg) c.410A>G (p.His137Arg) c.857A>G (p.His286Arg) | COSMIC |
7 | g.99766382T>G | CA368369990 | CYP3A4 | c.860A>C (p.His287Pro) n.295A>C c.401A>C (p.His134Pro) c.713A>C (p.His238Pro) c.410A>C (p.His137Pro) c.857A>C (p.His286Pro) | |
7 | g.99766383G>A | CA368369991 | CYP3A4 | c.859C>T (p.His287Tyr) n.294C>T c.400C>T (p.His134Tyr) c.712C>T (p.His238Tyr) c.409C>T (p.His137Tyr) c.856C>T (p.His286Tyr) | gnomAD v4 |
7 | g.99766383G>C | CA368369992 | CYP3A4 | c.859C>G (p.His287Asp) n.294C>G c.400C>G (p.His134Asp) c.712C>G (p.His238Asp) c.409C>G (p.His137Asp) c.856C>G (p.His286Asp) | |
7 | g.99766383G>T | CA368369993 | CYP3A4 | c.859C>A (p.His287Asn) n.294C>A c.400C>A (p.His134Asn) c.712C>A (p.His238Asn) c.409C>A (p.His137Asn) c.856C>A (p.His286Asn) | |
7 | g.99766384G>A | CA456687902 | CYP3A4 | c.858C>T (p.Ser286=) n.293C>T c.399C>T (p.Ser133=) c.711C>T (p.Ser237=) c.408C>T (p.Ser136=) c.855C>T (p.Ser285=) | |
7 | g.99766384G>C | CA456687904 | CYP3A4 | c.858C>G (p.Ser286=) n.293C>G c.399C>G (p.Ser133=) c.711C>G (p.Ser237=) c.408C>G (p.Ser136=) c.855C>G (p.Ser285=) | |
7 | g.99766384G>T | CA456687905 | CYP3A4 | c.858C>A (p.Ser286=) n.293C>A c.399C>A (p.Ser133=) c.711C>A (p.Ser237=) c.408C>A (p.Ser136=) c.855C>A (p.Ser285=) | |
7 | g.99766385G>A | CA368369994 | CYP3A4 | c.857C>T (p.Ser286Phe) n.292C>T c.398C>T (p.Ser133Phe) c.710C>T (p.Ser237Phe) c.407C>T (p.Ser136Phe) c.854C>T (p.Ser285Phe) | COSMIC |
7 | g.99766385G>C | CA368369995 | CYP3A4 | c.857C>G (p.Ser286Cys) n.292C>G c.398C>G (p.Ser133Cys) c.710C>G (p.Ser237Cys) c.407C>G (p.Ser136Cys) c.854C>G (p.Ser285Cys) | |
7 | g.99766385G>T | CA368369996 | CYP3A4 | c.857C>A (p.Ser286Tyr) n.292C>A c.398C>A (p.Ser133Tyr) c.710C>A (p.Ser237Tyr) c.407C>A (p.Ser136Tyr) c.854C>A (p.Ser285Tyr) | |
7 | g.99766386A= | CA1729179348 | CYP3A4 | c.856T= (p.Ser286=) n.291T= c.397T= (p.Ser133=) c.709T= (p.Ser237=) c.406T= (p.Ser136=) c.853T= (p.Ser285=) | |
7 | g.99766386A>C | CA368369997 | CYP3A4 | c.856T>G (p.Ser286Ala) n.291T>G c.397T>G (p.Ser133Ala) c.709T>G (p.Ser237Ala) c.406T>G (p.Ser136Ala) c.853T>G (p.Ser285Ala) | |
7 | g.99766386A>G | CA368369998 | CYP3A4 | c.856T>C (p.Ser286Pro) n.291T>C c.397T>C (p.Ser133Pro) c.709T>C (p.Ser237Pro) c.406T>C (p.Ser136Pro) c.853T>C (p.Ser285Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766386A>T | CA368369999 | CYP3A4 | c.856T>A (p.Ser286Thr) n.291T>A c.397T>A (p.Ser133Thr) c.709T>A (p.Ser237Thr) c.406T>A (p.Ser136Thr) c.853T>A (p.Ser285Thr) | |
7 | g.99766387C>A | CA368370001 | CYP3A4 | c.855G>T (p.Glu285Asp) n.290G>T c.396G>T (p.Glu132Asp) c.708G>T (p.Glu236Asp) c.405G>T (p.Glu135Asp) c.852G>T (p.Glu284Asp) | |
7 | g.99766387C>G | CA368370000 | CYP3A4 | c.855G>C (p.Glu285Asp) n.290G>C c.396G>C (p.Glu132Asp) c.708G>C (p.Glu236Asp) c.405G>C (p.Glu135Asp) c.852G>C (p.Glu284Asp) | |
7 | g.99766387C>T | CA456687910 | CYP3A4 | c.855G>A (p.Glu285=) n.290G>A c.396G>A (p.Glu132=) c.708G>A (p.Glu236=) c.405G>A (p.Glu135=) c.852G>A (p.Glu284=) | gnomAD v4 |
7 | g.99766388T>A | CA368370002 | CYP3A4 | c.854A>T (p.Glu285Val) n.289A>T c.395A>T (p.Glu132Val) c.707A>T (p.Glu236Val) c.404A>T (p.Glu135Val) c.851A>T (p.Glu284Val) | gnomAD v4 |
7 | g.99766388T>C | CA368370003 | CYP3A4 | c.854A>G (p.Glu285Gly) n.289A>G c.395A>G (p.Glu132Gly) c.707A>G (p.Glu236Gly) c.404A>G (p.Glu135Gly) c.851A>G (p.Glu284Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766388T>G | CA368370004 | CYP3A4 | c.854A>C (p.Glu285Ala) n.289A>C c.395A>C (p.Glu132Ala) c.707A>C (p.Glu236Ala) c.404A>C (p.Glu135Ala) c.851A>C (p.Glu284Ala) | |
7 | g.99766388T= | CA1729179351 | CYP3A4 | c.854A= (p.Glu285=) n.289A= c.395A= (p.Glu132=) c.707A= (p.Glu236=) c.404A= (p.Glu135=) c.851A= (p.Glu284=) | |
7 | g.99766389C>A | CA368370005 | CYP3A4 | c.853G>T (p.Glu285Ter) n.288G>T c.394G>T (p.Glu132Ter) c.706G>T (p.Glu236Ter) c.403G>T (p.Glu135Ter) c.850G>T (p.Glu284Ter) | |
7 | g.99766389C>G | CA368370006 | CYP3A4 | c.853G>C (p.Glu285Gln) n.288G>C c.394G>C (p.Glu132Gln) c.706G>C (p.Glu236Gln) c.403G>C (p.Glu135Gln) c.850G>C (p.Glu284Gln) | |
7 | g.99766389C>T | CA368370007 | CYP3A4 | c.853G>A (p.Glu285Lys) n.288G>A c.394G>A (p.Glu132Lys) c.706G>A (p.Glu236Lys) c.403G>A (p.Glu135Lys) c.850G>A (p.Glu284Lys) | gnomAD v4 |
7 | g.99766390A>C | CA456687913 | CYP3A4 | c.852T>G (p.Thr284=) n.287T>G c.393T>G (p.Thr131=) c.705T>G (p.Thr235=) c.402T>G (p.Thr134=) c.849T>G (p.Thr283=) | gnomAD v4 |
7 | g.99766390A>G | CA456687914 | CYP3A4 | c.852T>C (p.Thr284=) n.287T>C c.393T>C (p.Thr131=) c.705T>C (p.Thr235=) c.402T>C (p.Thr134=) c.849T>C (p.Thr283=) | gnomAD v4 |
7 | g.99766390A>T | CA456687915 | CYP3A4 | c.852T>A (p.Thr284=) n.287T>A c.393T>A (p.Thr131=) c.705T>A (p.Thr235=) c.402T>A (p.Thr134=) c.849T>A (p.Thr283=) | |
7 | g.99766391G>A | CA368370010 | CYP3A4 | c.851C>T (p.Thr284Ile) n.286C>T c.392C>T (p.Thr131Ile) c.704C>T (p.Thr235Ile) c.401C>T (p.Thr134Ile) c.848C>T (p.Thr283Ile) | |
7 | g.99766391G>C | CA368370008 | CYP3A4 | c.851C>G (p.Thr284Ser) n.286C>G c.392C>G (p.Thr131Ser) c.704C>G (p.Thr235Ser) c.401C>G (p.Thr134Ser) c.848C>G (p.Thr283Ser) | |
7 | g.99766391G>T | CA368370009 | CYP3A4 | c.851C>A (p.Thr284Asn) n.286C>A c.392C>A (p.Thr131Asn) c.704C>A (p.Thr235Asn) c.401C>A (p.Thr134Asn) c.848C>A (p.Thr283Asn) | |
7 | g.99766392T>A | CA368370011 | CYP3A4 | c.850A>T (p.Thr284Ser) n.285A>T c.391A>T (p.Thr131Ser) c.703A>T (p.Thr235Ser) c.400A>T (p.Thr134Ser) c.847A>T (p.Thr283Ser) | gnomAD v4 |
7 | g.99766392T>C | CA368370012 | CYP3A4 | c.850A>G (p.Thr284Ala) n.285A>G c.391A>G (p.Thr131Ala) c.703A>G (p.Thr235Ala) c.400A>G (p.Thr134Ala) c.847A>G (p.Thr283Ala) | |
7 | g.99766392T>G | CA368370013 | CYP3A4 | c.850A>C (p.Thr284Pro) n.285A>C c.391A>C (p.Thr131Pro) c.703A>C (p.Thr235Pro) c.400A>C (p.Thr134Pro) c.847A>C (p.Thr283Pro) | |
7 | g.99766393T>A | CA368370014 | CYP3A4 | c.849A>T (p.Glu283Asp) n.284A>T c.390A>T (p.Glu130Asp) c.702A>T (p.Glu234Asp) c.399A>T (p.Glu133Asp) c.846A>T (p.Glu282Asp) | |
7 | g.99766393T>C | CA456687919 | CYP3A4 | c.849A>G (p.Glu283=) n.284A>G c.390A>G (p.Glu130=) c.702A>G (p.Glu234=) c.399A>G (p.Glu133=) c.846A>G (p.Glu282=) | dbSNP |
7 | g.99766393T>G | CA368370015 | CYP3A4 | c.849A>C (p.Glu283Asp) n.284A>C c.390A>C (p.Glu130Asp) c.702A>C (p.Glu234Asp) c.399A>C (p.Glu133Asp) c.846A>C (p.Glu282Asp) | gnomAD v4 |
7 | g.99766393T= | CA1729179353 | CYP3A4 | c.849A= (p.Glu283=) n.284A= c.390A= (p.Glu130=) c.702A= (p.Glu234=) c.399A= (p.Glu133=) c.846A= (p.Glu282=) | |
7 | g.99766394T>A | CA368370016 | CYP3A4 | c.848A>T (p.Glu283Val) n.283A>T c.389A>T (p.Glu130Val) c.701A>T (p.Glu234Val) c.398A>T (p.Glu133Val) c.845A>T (p.Glu282Val) | |
7 | g.99766394T>C | CA368370018 | CYP3A4 | c.848A>G (p.Glu283Gly) n.283A>G c.389A>G (p.Glu130Gly) c.701A>G (p.Glu234Gly) c.398A>G (p.Glu133Gly) c.845A>G (p.Glu282Gly) | |
7 | g.99766394T>G | CA368370017 | CYP3A4 | c.848A>C (p.Glu283Ala) n.283A>C c.389A>C (p.Glu130Ala) c.701A>C (p.Glu234Ala) c.398A>C (p.Glu133Ala) c.845A>C (p.Glu282Ala) | |
7 | g.99766395C>A | CA368370019 | CYP3A4 | c.847G>T (p.Glu283Ter) n.282G>T c.388G>T (p.Glu130Ter) c.700G>T (p.Glu234Ter) c.397G>T (p.Glu133Ter) c.844G>T (p.Glu282Ter) | |
7 | g.99766395C>G | CA368370020 | CYP3A4 | c.847G>C (p.Glu283Gln) n.282G>C c.388G>C (p.Glu130Gln) c.700G>C (p.Glu234Gln) c.397G>C (p.Glu133Gln) c.844G>C (p.Glu282Gln) | |
7 | g.99766395C>T | CA368370021 | CYP3A4 | c.847G>A (p.Glu283Lys) n.282G>A c.388G>A (p.Glu130Lys) c.700G>A (p.Glu234Lys) c.397G>A (p.Glu133Lys) c.844G>A (p.Glu282Lys) | |
7 | g.99766396T>A | CA368370022 | CYP3A4 | c.846A>T (p.Lys282Asn) n.281A>T c.387A>T (p.Lys129Asn) c.699A>T (p.Lys233Asn) c.396A>T (p.Lys132Asn) c.843A>T (p.Lys281Asn) | |
7 | g.99766396T>C | CA456687925 | CYP3A4 | c.846A>G (p.Lys282=) n.281A>G c.387A>G (p.Lys129=) c.699A>G (p.Lys233=) c.396A>G (p.Lys132=) c.843A>G (p.Lys281=) | |
7 | g.99766396T>G | CA368370023 | CYP3A4 | c.846A>C (p.Lys282Asn) n.281A>C c.387A>C (p.Lys129Asn) c.699A>C (p.Lys233Asn) c.396A>C (p.Lys132Asn) c.843A>C (p.Lys281Asn) | |
7 | g.99766397T>A | CA368370024 | CYP3A4 | c.845A>T (p.Lys282Ile) n.280A>T c.386A>T (p.Lys129Ile) c.698A>T (p.Lys233Ile) c.395A>T (p.Lys132Ile) c.842A>T (p.Lys281Ile) | |
7 | g.99766397T>C | CA368370025 | CYP3A4 | c.845A>G (p.Lys282Arg) n.280A>G c.386A>G (p.Lys129Arg) c.698A>G (p.Lys233Arg) c.395A>G (p.Lys132Arg) c.842A>G (p.Lys281Arg) | |
7 | g.99766397T>G | CA368370026 | CYP3A4 | c.845A>C (p.Lys282Thr) n.280A>C c.386A>C (p.Lys129Thr) c.698A>C (p.Lys233Thr) c.395A>C (p.Lys132Thr) c.842A>C (p.Lys281Thr) | |
7 | g.99766398T>A | CA368370027 | CYP3A4 | c.844A>T (p.Lys282Ter) n.279A>T c.385A>T (p.Lys129Ter) c.697A>T (p.Lys233Ter) c.394A>T (p.Lys132Ter) c.841A>T (p.Lys281Ter) | |
7 | g.99766398T>C | CA368370028 | CYP3A4 | c.844A>G (p.Lys282Glu) n.279A>G c.385A>G (p.Lys129Glu) c.697A>G (p.Lys233Glu) c.394A>G (p.Lys132Glu) c.841A>G (p.Lys281Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766398T>G | CA368370029 | CYP3A4 | c.844A>C (p.Lys282Gln) n.279A>C c.385A>C (p.Lys129Gln) c.697A>C (p.Lys233Gln) c.394A>C (p.Lys132Gln) c.841A>C (p.Lys281Gln) | |
7 | g.99766398T= | CA1729179355 | CYP3A4 | c.844A= (p.Lys282=) n.279A= c.385A= (p.Lys129=) c.697A= (p.Lys233=) c.394A= (p.Lys132=) c.841A= (p.Lys281=) | |
7 | g.99766399T>A | CA456687927 | CYP3A4 | c.843A>T (p.Ser281=) n.278A>T c.384A>T (p.Ser128=) c.696A>T (p.Ser232=) c.393A>T (p.Ser131=) c.840A>T (p.Ser280=) | |
7 | g.99766399T>C | CA4369623 | CYP3A4 | c.843A>G (p.Ser281=) n.278A>G c.384A>G (p.Ser128=) c.696A>G (p.Ser232=) c.393A>G (p.Ser131=) c.840A>G (p.Ser280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99766399T>G | CA456687929 | CYP3A4 | c.843A>C (p.Ser281=) n.278A>C c.384A>C (p.Ser128=) c.696A>C (p.Ser232=) c.393A>C (p.Ser131=) c.840A>C (p.Ser280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766399T= | CA1729179357 | CYP3A4 | c.843A= (p.Ser281=) n.278A= c.384A= (p.Ser128=) c.696A= (p.Ser232=) c.393A= (p.Ser131=) c.840A= (p.Ser280=) | |
7 | g.99766400G>A | CA368370031 | CYP3A4 | c.842C>T (p.Ser281Leu) n.277C>T c.383C>T (p.Ser128Leu) c.695C>T (p.Ser232Leu) c.392C>T (p.Ser131Leu) c.839C>T (p.Ser280Leu) | |
7 | g.99766400G>C | CA368370032 | CYP3A4 | c.842C>G (p.Ser281Ter) n.277C>G c.383C>G (p.Ser128Ter) c.695C>G (p.Ser232Ter) c.392C>G (p.Ser131Ter) c.839C>G (p.Ser280Ter) | |
7 | g.99766400G>T | CA368370030 | CYP3A4 | c.842C>A (p.Ser281Ter) n.277C>A c.383C>A (p.Ser128Ter) c.695C>A (p.Ser232Ter) c.392C>A (p.Ser131Ter) c.839C>A (p.Ser280Ter) | |
7 | g.99766400_99766401delinsGA | CA1729179362 | CYP3A4 | c.841_842delinsTC (p.Ser281=) n.276_277delinsTC c.382_383delinsTC (p.Ser128=) c.694_695delinsTC (p.Ser232=) c.391_392delinsTC (p.Ser131=) c.838_839delinsTC (p.Ser280=) | |
7 | g.99766401A>C | CA368370035 | CYP3A4 | c.841T>G (p.Ser281Ala) n.276T>G c.382T>G (p.Ser128Ala) c.694T>G (p.Ser232Ala) c.391T>G (p.Ser131Ala) c.838T>G (p.Ser280Ala) | |
7 | g.99766401A>G | CA368370033 | CYP3A4 | c.841T>C (p.Ser281Pro) n.276T>C c.382T>C (p.Ser128Pro) c.694T>C (p.Ser232Pro) c.391T>C (p.Ser131Pro) c.838T>C (p.Ser280Pro) | |
7 | g.99766401A>T | CA368370034 | CYP3A4 | c.841T>A (p.Ser281Thr) n.276T>A c.382T>A (p.Ser128Thr) c.694T>A (p.Ser232Thr) c.391T>A (p.Ser131Thr) c.838T>A (p.Ser280Thr) | |
7 | g.99766402del | CA4369624 | CYP3A4 | c.841del (p.Ser281GlnfsTer?) n.276del c.382del (p.Ser128GlnfsTer?) c.694del (p.Ser232GlnfsTer?) c.391del (p.Ser131GlnfsTer?) c.838del (p.Ser280GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.99766402A>C | CA368370036 | CYP3A4 | c.840T>G (p.Asn280Lys) n.275T>G c.381T>G (p.Asn127Lys) c.693T>G (p.Asn231Lys) c.390T>G (p.Asn130Lys) c.837T>G (p.Asn279Lys) | |
7 | g.99766402A>G | CA456687933 | CYP3A4 | c.840T>C (p.Asn280=) n.275T>C c.381T>C (p.Asn127=) c.693T>C (p.Asn231=) c.390T>C (p.Asn130=) c.837T>C (p.Asn279=) | |
7 | g.99766402A>T | CA368370037 | CYP3A4 | c.840T>A (p.Asn280Lys) n.275T>A c.381T>A (p.Asn127Lys) c.693T>A (p.Asn231Lys) c.390T>A (p.Asn130Lys) c.837T>A (p.Asn279Lys) | |
7 | g.99766403T>A | CA368370038 | CYP3A4 | c.839A>T (p.Asn280Ile) n.274A>T c.380A>T (p.Asn127Ile) c.692A>T (p.Asn231Ile) c.389A>T (p.Asn130Ile) c.836A>T (p.Asn279Ile) | |
7 | g.99766403T>C | CA368370039 | CYP3A4 | c.839A>G (p.Asn280Ser) n.274A>G c.380A>G (p.Asn127Ser) c.692A>G (p.Asn231Ser) c.389A>G (p.Asn130Ser) c.836A>G (p.Asn279Ser) | |
7 | g.99766403T>G | CA368370040 | CYP3A4 | c.839A>C (p.Asn280Thr) n.274A>C c.380A>C (p.Asn127Thr) c.692A>C (p.Asn231Thr) c.389A>C (p.Asn130Thr) c.836A>C (p.Asn279Thr) | |
7 | g.99766404T>A | CA368370041 | CYP3A4 | c.838A>T (p.Asn280Tyr) n.273A>T c.379A>T (p.Asn127Tyr) c.691A>T (p.Asn231Tyr) c.388A>T (p.Asn130Tyr) c.835A>T (p.Asn279Tyr) | |
7 | g.99766404T>C | CA368370042 | CYP3A4 | c.838A>G (p.Asn280Asp) n.273A>G c.379A>G (p.Asn127Asp) c.691A>G (p.Asn231Asp) c.388A>G (p.Asn130Asp) c.835A>G (p.Asn279Asp) | |
7 | g.99766404T>G | CA368370043 | CYP3A4 | c.838A>C (p.Asn280His) n.273A>C c.379A>C (p.Asn127His) c.691A>C (p.Asn231His) c.388A>C (p.Asn130His) c.835A>C (p.Asn279His) | |
7 | g.99766405C>A | CA368370044 | CYP3A4 | c.837G>T (p.Gln279His) n.272G>T c.378G>T (p.Gln126His) c.690G>T (p.Gln230His) c.387G>T (p.Gln129His) c.834G>T (p.Gln278His) | |
7 | g.99766405C>G | CA368370045 | CYP3A4 | c.837G>C (p.Gln279His) n.272G>C c.378G>C (p.Gln126His) c.690G>C (p.Gln230His) c.387G>C (p.Gln129His) c.834G>C (p.Gln278His) | |
7 | g.99766405C>T | CA456687937 | CYP3A4 | c.837G>A (p.Gln279=) n.272G>A c.378G>A (p.Gln126=) c.690G>A (p.Gln230=) c.387G>A (p.Gln129=) c.834G>A (p.Gln278=) | COSMIC |
7 | g.99766406T>A | CA368370048 | CYP3A4 | c.836A>T (p.Gln279Leu) n.271A>T c.377A>T (p.Gln126Leu) c.689A>T (p.Gln230Leu) c.386A>T (p.Gln129Leu) c.833A>T (p.Gln278Leu) | |
7 | g.99766406T>C | CA368370046 | CYP3A4 | c.836A>G (p.Gln279Arg) n.271A>G c.377A>G (p.Gln126Arg) c.689A>G (p.Gln230Arg) c.386A>G (p.Gln129Arg) c.833A>G (p.Gln278Arg) | |
7 | g.99766406T>G | CA368370047 | CYP3A4 | c.836A>C (p.Gln279Pro) n.271A>C c.377A>C (p.Gln126Pro) c.689A>C (p.Gln230Pro) c.386A>C (p.Gln129Pro) c.833A>C (p.Gln278Pro) | |
7 | g.99766406_99766408delinsTGA | CA1729179370 | CYP3A4 | c.834_836delinsTCA (p.Ser278=) n.269_271delinsTCA c.375_377delinsTCA (p.Ser125=) c.687_689delinsTCA (p.Ser229=) c.384_386delinsTCA (p.Ser128=) c.831_833delinsTCA (p.Ser277=) | |
7 | g.99766407G>A | CA368370049 | CYP3A4 | c.835C>T (p.Gln279Ter) n.270C>T c.376C>T (p.Gln126Ter) c.688C>T (p.Gln230Ter) c.385C>T (p.Gln129Ter) c.832C>T (p.Gln278Ter) | |
7 | g.99766407G>C | CA368370050 | CYP3A4 | c.835C>G (p.Gln279Glu) n.270C>G c.376C>G (p.Gln126Glu) c.688C>G (p.Gln230Glu) c.385C>G (p.Gln129Glu) c.832C>G (p.Gln278Glu) | |
7 | g.99766407G>T | CA368370051 | CYP3A4 | c.835C>A (p.Gln279Lys) n.270C>A c.376C>A (p.Gln126Lys) c.688C>A (p.Gln230Lys) c.385C>A (p.Gln129Lys) c.832C>A (p.Gln278Lys) | |
7 | g.99766410_99766411del | CA1729179374 | CYP3A4 | c.834_835del (p.Gln279GlufsTer6) n.269_270del c.375_376del (p.Gln126GlufsTer6) c.687_688del (p.Gln230GlufsTer6) c.384_385del (p.Gln129GlufsTer6) c.831_832del (p.Gln278GlufsTer6) | dbSNP |
7 | g.99766408A>C | CA456687940 | CYP3A4 | c.834T>G (p.Ser278=) n.269T>G c.375T>G (p.Ser125=) c.687T>G (p.Ser229=) c.384T>G (p.Ser128=) c.831T>G (p.Ser277=) | |
7 | g.99766408A>G | CA456687941 | CYP3A4 | c.834T>C (p.Ser278=) n.269T>C c.375T>C (p.Ser125=) c.687T>C (p.Ser229=) c.384T>C (p.Ser128=) c.831T>C (p.Ser277=) | |
7 | g.99766408A>T | CA456687942 | CYP3A4 | c.834T>A (p.Ser278=) n.269T>A c.375T>A (p.Ser125=) c.687T>A (p.Ser229=) c.384T>A (p.Ser128=) c.831T>A (p.Ser277=) | |
7 | g.99766409G>A | CA368370052 | CYP3A4 | c.833C>T (p.Ser278Phe) n.268C>T c.374C>T (p.Ser125Phe) c.686C>T (p.Ser229Phe) c.383C>T (p.Ser128Phe) c.830C>T (p.Ser277Phe) | |
7 | g.99766409G>C | CA368370053 | CYP3A4 | c.833C>G (p.Ser278Cys) n.268C>G c.374C>G (p.Ser125Cys) c.686C>G (p.Ser229Cys) c.383C>G (p.Ser128Cys) c.830C>G (p.Ser277Cys) | |
7 | g.99766409G>T | CA368370054 | CYP3A4 | c.833C>A (p.Ser278Tyr) n.268C>A c.374C>A (p.Ser125Tyr) c.686C>A (p.Ser229Tyr) c.383C>A (p.Ser128Tyr) c.830C>A (p.Ser277Tyr) | |
7 | g.99766410A= | CA1729179378 | CYP3A4 | c.832T= (p.Ser278=) n.267T= c.373T= (p.Ser125=) c.685T= (p.Ser229=) c.382T= (p.Ser128=) c.829T= (p.Ser277=) | |
7 | g.99766410A>C | CA368370055 | CYP3A4 | c.832T>G (p.Ser278Ala) n.267T>G c.373T>G (p.Ser125Ala) c.685T>G (p.Ser229Ala) c.382T>G (p.Ser128Ala) c.829T>G (p.Ser277Ala) | |
7 | g.99766410A>G | CA368370056 | CYP3A4 | c.832T>C (p.Ser278Pro) n.267T>C c.373T>C (p.Ser125Pro) c.685T>C (p.Ser229Pro) c.382T>C (p.Ser128Pro) c.829T>C (p.Ser277Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.99766410A>T | CA368370057 | CYP3A4 | c.832T>A (p.Ser278Thr) n.267T>A c.373T>A (p.Ser125Thr) c.685T>A (p.Ser229Thr) c.382T>A (p.Ser128Thr) c.829T>A (p.Ser277Thr) | |
7 | g.99766411G>A | CA456687943 | CYP3A4 | c.831C>T (p.Asp277=) n.266C>T c.372C>T (p.Asp124=) c.684C>T (p.Asp228=) c.381C>T (p.Asp127=) c.828C>T (p.Asp276=) | |
7 | g.99766411G>C | CA368370058 | CYP3A4 | c.831C>G (p.Asp277Glu) n.266C>G c.372C>G (p.Asp124Glu) c.684C>G (p.Asp228Glu) c.381C>G (p.Asp127Glu) c.828C>G (p.Asp276Glu) | |
7 | g.99766411G= | CA1729179382 | CYP3A4 | c.831C= (p.Asp277=) n.266C= c.372C= (p.Asp124=) c.684C= (p.Asp228=) c.381C= (p.Asp127=) c.828C= (p.Asp276=) | |
7 | g.99766411G>T | CA368370059 | CYP3A4 | c.831C>A (p.Asp277Glu) n.266C>A c.372C>A (p.Asp124Glu) c.684C>A (p.Asp228Glu) c.381C>A (p.Asp127Glu) c.828C>A (p.Asp276Glu) | |
7 | g.99766412T>A | CA368370062 | CYP3A4 | c.830A>T (p.Asp277Val) n.265A>T c.371A>T (p.Asp124Val) c.683A>T (p.Asp228Val) c.380A>T (p.Asp127Val) c.827A>T (p.Asp276Val) | |
7 | g.99766412T>C | CA368370061 | CYP3A4 | c.830A>G (p.Asp277Gly) n.265A>G c.371A>G (p.Asp124Gly) c.683A>G (p.Asp228Gly) c.380A>G (p.Asp127Gly) c.827A>G (p.Asp276Gly) | |
7 | g.99766412T>G | CA368370060 | CYP3A4 | c.830A>C (p.Asp277Ala) n.265A>C c.371A>C (p.Asp124Ala) c.683A>C (p.Asp228Ala) c.380A>C (p.Asp127Ala) c.827A>C (p.Asp276Ala) | |
7 | g.99766412T= | CA2580771273 | CYP3A4 | c.830A= (p.Asp277=) n.265A= c.371A= (p.Asp124=) c.683A= (p.Asp228=) c.380A= (p.Asp127=) c.827A= (p.Asp276=) | |
7 | g.99766412dup | CA4369625 | CYP3A4 | c.830dup (p.Asp277GlufsTer9) n.265dup c.371dup (p.Asp124GlufsTer9) c.683dup (p.Asp228GlufsTer9) c.380dup (p.Asp127GlufsTer9) c.827dup (p.Asp276GlufsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766413C>A | CA368370063 | CYP3A4 | c.829G>T (p.Asp277Tyr) n.264G>T c.370G>T (p.Asp124Tyr) c.682G>T (p.Asp228Tyr) c.379G>T (p.Asp127Tyr) c.826G>T (p.Asp276Tyr) | |
7 | g.99766413C= | CA1729179390 | CYP3A4 | c.829G= (p.Asp277=) n.264G= c.370G= (p.Asp124=) c.682G= (p.Asp228=) c.379G= (p.Asp127=) c.826G= (p.Asp276=) | |
7 | g.99766413C>G | CA368370064 | CYP3A4 | c.829G>C (p.Asp277His) n.264G>C c.370G>C (p.Asp124His) c.682G>C (p.Asp228His) c.379G>C (p.Asp127His) c.826G>C (p.Asp276His) | gnomAD v4 |
7 | g.99766413C>T | CA4369626 | CYP3A4 | c.829G>A (p.Asp277Asn) n.264G>A c.370G>A (p.Asp124Asn) c.682G>A (p.Asp228Asn) c.379G>A (p.Asp127Asn) c.826G>A (p.Asp276Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766414A>C | CA368370065 | CYP3A4 | c.828T>G (p.Ile276Met) n.263T>G c.369T>G (p.Ile123Met) c.681T>G (p.Ile227Met) c.378T>G (p.Ile126Met) c.825T>G (p.Ile275Met) | |
7 | g.99766414A>G | CA456687944 | CYP3A4 | c.828T>C (p.Ile276=) n.263T>C c.369T>C (p.Ile123=) c.681T>C (p.Ile227=) c.378T>C (p.Ile126=) c.825T>C (p.Ile275=) | |
7 | g.99766414A>T | CA456687945 | CYP3A4 | c.828T>A (p.Ile276=) n.263T>A c.369T>A (p.Ile123=) c.681T>A (p.Ile227=) c.378T>A (p.Ile126=) c.825T>A (p.Ile275=) | gnomAD v4 |
7 | g.99766415A= | CA1729179392 | CYP3A4 | c.827T= (p.Ile276=) n.262T= c.368T= (p.Ile123=) c.680T= (p.Ile227=) c.377T= (p.Ile126=) c.824T= (p.Ile275=) | |
7 | g.99766415A>C | CA368370066 | CYP3A4 | c.827T>G (p.Ile276Ser) n.262T>G c.368T>G (p.Ile123Ser) c.680T>G (p.Ile227Ser) c.377T>G (p.Ile126Ser) c.824T>G (p.Ile275Ser) | |
7 | g.99766415A>G | CA368370067 | CYP3A4 | c.827T>C (p.Ile276Thr) n.262T>C c.368T>C (p.Ile123Thr) c.680T>C (p.Ile227Thr) c.377T>C (p.Ile126Thr) c.824T>C (p.Ile275Thr) | dbSNP gnomAD v4 |
7 | g.99766415A>T | CA368370068 | CYP3A4 | c.827T>A (p.Ile276Asn) n.262T>A c.368T>A (p.Ile123Asn) c.680T>A (p.Ile227Asn) c.377T>A (p.Ile126Asn) c.824T>A (p.Ile275Asn) | |
7 | g.99766416T>A | CA368370069 | CYP3A4 | c.826A>T (p.Ile276Phe) n.261A>T c.367A>T (p.Ile123Phe) c.679A>T (p.Ile227Phe) c.376A>T (p.Ile126Phe) c.823A>T (p.Ile275Phe) | |
7 | g.99766416T>C | CA368370070 | CYP3A4 | c.826A>G (p.Ile276Val) n.261A>G c.367A>G (p.Ile123Val) c.679A>G (p.Ile227Val) c.376A>G (p.Ile126Val) c.823A>G (p.Ile275Val) | |
7 | g.99766416T>G | CA368370071 | CYP3A4 | c.826A>C (p.Ile276Leu) n.261A>C c.367A>C (p.Ile123Leu) c.679A>C (p.Ile227Leu) c.376A>C (p.Ile126Leu) c.823A>C (p.Ile275Leu) | |
7 | g.99766417C>A | CA368370072 | CYP3A4 | c.825G>T (p.Met275Ile) n.260G>T c.366G>T (p.Met122Ile) c.678G>T (p.Met226Ile) c.375G>T (p.Met125Ile) c.822G>T (p.Met274Ile) | |
7 | g.99766417C>G | CA368370073 | CYP3A4 | c.825G>C (p.Met275Ile) n.260G>C c.366G>C (p.Met122Ile) c.678G>C (p.Met226Ile) c.375G>C (p.Met125Ile) c.822G>C (p.Met274Ile) | |
7 | g.99766417C>T | CA368370074 | CYP3A4 | c.825G>A (p.Met275Ile) n.260G>A c.366G>A (p.Met122Ile) c.678G>A (p.Met226Ile) c.375G>A (p.Met125Ile) c.822G>A (p.Met274Ile) | gnomAD v4 |
7 | g.99766418A>C | CA368370077 | CYP3A4 | c.824T>G (p.Met275Arg) n.259T>G c.365T>G (p.Met122Arg) c.677T>G (p.Met226Arg) c.374T>G (p.Met125Arg) c.821T>G (p.Met274Arg) | |
7 | g.99766418A>G | CA368370076 | CYP3A4 | c.824T>C (p.Met275Thr) n.259T>C c.365T>C (p.Met122Thr) c.677T>C (p.Met226Thr) c.374T>C (p.Met125Thr) c.821T>C (p.Met274Thr) | |
7 | g.99766418A>T | CA368370075 | CYP3A4 | c.824T>A (p.Met275Lys) n.259T>A c.365T>A (p.Met122Lys) c.677T>A (p.Met226Lys) c.374T>A (p.Met125Lys) c.821T>A (p.Met274Lys) | gnomAD v4 |
7 | g.99766419T>A | CA368370078 | CYP3A4 | c.823A>T (p.Met275Leu) n.258A>T c.364A>T (p.Met122Leu) c.676A>T (p.Met226Leu) c.373A>T (p.Met125Leu) c.820A>T (p.Met274Leu) | |
7 | g.99766419T>C | CA368370079 | CYP3A4 | c.823A>G (p.Met275Val) n.258A>G c.364A>G (p.Met122Val) c.676A>G (p.Met226Val) c.373A>G (p.Met125Val) c.820A>G (p.Met274Val) | |
7 | g.99766419T>G | CA368370080 | CYP3A4 | c.823A>C (p.Met275Leu) n.258A>C c.364A>C (p.Met122Leu) c.676A>C (p.Met226Leu) c.373A>C (p.Met125Leu) c.820A>C (p.Met274Leu) | |
7 | g.99766420C>A | CA456687948 | CYP3A4 | c.822G>T (p.Leu274=) n.257G>T c.363G>T (p.Leu121=) c.675G>T (p.Leu225=) c.372G>T (p.Leu124=) c.819G>T (p.Leu273=) | |
7 | g.99766420C= | CA1729179395 | CYP3A4 | c.822G= (p.Leu274=) n.257G= c.363G= (p.Leu121=) c.675G= (p.Leu225=) c.372G= (p.Leu124=) c.819G= (p.Leu273=) | |
7 | g.99766420C>G | CA456687950 | CYP3A4 | c.822G>C (p.Leu274=) n.257G>C c.363G>C (p.Leu121=) c.675G>C (p.Leu225=) c.372G>C (p.Leu124=) c.819G>C (p.Leu273=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766420C>T | CA456687951 | CYP3A4 | c.822G>A (p.Leu274=) n.257G>A c.363G>A (p.Leu121=) c.675G>A (p.Leu225=) c.372G>A (p.Leu124=) c.819G>A (p.Leu273=) | |
7 | g.99766421A>C | CA368370081 | CYP3A4 | c.821T>G (p.Leu274Arg) n.256T>G c.362T>G (p.Leu121Arg) c.674T>G (p.Leu225Arg) c.371T>G (p.Leu124Arg) c.818T>G (p.Leu273Arg) | |
7 | g.99766421A>G | CA368370082 | CYP3A4 | c.821T>C (p.Leu274Pro) n.256T>C c.362T>C (p.Leu121Pro) c.674T>C (p.Leu225Pro) c.371T>C (p.Leu124Pro) c.818T>C (p.Leu273Pro) | |
7 | g.99766421A>T | CA368370083 | CYP3A4 | c.821T>A (p.Leu274Gln) n.256T>A c.362T>A (p.Leu121Gln) c.674T>A (p.Leu225Gln) c.371T>A (p.Leu124Gln) c.818T>A (p.Leu273Gln) | |
7 | g.99766422G>A | CA456687952 | CYP3A4 | c.820C>T (p.Leu274=) n.255C>T c.361C>T (p.Leu121=) c.673C>T (p.Leu225=) c.370C>T (p.Leu124=) c.817C>T (p.Leu273=) | |
7 | g.99766422G>C | CA368370084 | CYP3A4 | c.820C>G (p.Leu274Val) n.255C>G c.361C>G (p.Leu121Val) c.673C>G (p.Leu225Val) c.370C>G (p.Leu124Val) c.817C>G (p.Leu273Val) | |
7 | g.99766422G>T | CA368370085 | CYP3A4 | c.820C>A (p.Leu274Met) n.255C>A c.361C>A (p.Leu121Met) c.673C>A (p.Leu225Met) c.370C>A (p.Leu124Met) c.817C>A (p.Leu273Met) | |
7 | g.99766423C>A | CA368370086 | CYP3A4 | c.819G>T (p.Gln273His) n.254G>T c.360G>T (p.Gln120His) c.672G>T (p.Gln224His) c.369G>T (p.Gln123His) c.816G>T (p.Gln272His) | |
7 | g.99766423C>G | CA368370087 | CYP3A4 | c.819G>C (p.Gln273His) n.254G>C c.360G>C (p.Gln120His) c.672G>C (p.Gln224His) c.369G>C (p.Gln123His) c.816G>C (p.Gln272His) | |
7 | g.99766423C>T | CA456687953 | CYP3A4 | c.819G>A (p.Gln273=) n.254G>A c.360G>A (p.Gln120=) c.672G>A (p.Gln224=) c.369G>A (p.Gln123=) c.816G>A (p.Gln272=) | |
7 | g.99766424T>A | CA368370088 | CYP3A4 | c.818A>T (p.Gln273Leu) n.253A>T c.359A>T (p.Gln120Leu) c.671A>T (p.Gln224Leu) c.368A>T (p.Gln123Leu) c.815A>T (p.Gln272Leu) | |
7 | g.99766424T>C | CA368370089 | CYP3A4 | c.818A>G (p.Gln273Arg) n.253A>G c.359A>G (p.Gln120Arg) c.671A>G (p.Gln224Arg) c.368A>G (p.Gln123Arg) c.815A>G (p.Gln272Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.99766424T>G | CA368370090 | CYP3A4 | c.818A>C (p.Gln273Pro) n.253A>C c.359A>C (p.Gln120Pro) c.671A>C (p.Gln224Pro) c.368A>C (p.Gln123Pro) c.815A>C (p.Gln272Pro) | |
7 | g.99766424T= | CA1729179397 | CYP3A4 | c.818A= (p.Gln273=) n.253A= c.359A= (p.Gln120=) c.671A= (p.Gln224=) c.368A= (p.Gln123=) c.815A= (p.Gln272=) | |
7 | g.99766425G>A | CA368370093 | CYP3A4 | c.817C>T (p.Gln273Ter) n.252C>T c.358C>T (p.Gln120Ter) c.670C>T (p.Gln224Ter) c.367C>T (p.Gln123Ter) c.814C>T (p.Gln272Ter) | gnomAD v4 |
7 | g.99766425G>C | CA368370092 | CYP3A4 | c.817C>G (p.Gln273Glu) n.252C>G c.358C>G (p.Gln120Glu) c.670C>G (p.Gln224Glu) c.367C>G (p.Gln123Glu) c.814C>G (p.Gln272Glu) | gnomAD v4 |
7 | g.99766425G>T | CA368370091 | CYP3A4 | c.817C>A (p.Gln273Lys) n.252C>A c.358C>A (p.Gln120Lys) c.670C>A (p.Gln224Lys) c.367C>A (p.Gln123Lys) c.814C>A (p.Gln272Lys) | |
7 | g.99766426A>C | CA456687958 | CYP3A4 | c.816T>G (p.Leu272=) n.251T>G c.357T>G (p.Leu119=) c.669T>G (p.Leu223=) c.366T>G (p.Leu122=) c.813T>G (p.Leu271=) | |
7 | g.99766426A>G | CA456687957 | CYP3A4 | c.816T>C (p.Leu272=) n.251T>C c.357T>C (p.Leu119=) c.669T>C (p.Leu223=) c.366T>C (p.Leu122=) c.813T>C (p.Leu271=) | |
7 | g.99766426A>T | CA456687956 | CYP3A4 | c.816T>A (p.Leu272=) n.251T>A c.357T>A (p.Leu119=) c.669T>A (p.Leu223=) c.366T>A (p.Leu122=) c.813T>A (p.Leu271=) | |
7 | g.99766427A= | CA1729179401 | CYP3A4 | c.815T= (p.Leu272=) n.250T= c.356T= (p.Leu119=) c.668T= (p.Leu223=) c.365T= (p.Leu122=) c.812T= (p.Leu271=) | |
7 | g.99766427A>C | CA368370094 | CYP3A4 | c.815T>G (p.Leu272Arg) n.250T>G c.356T>G (p.Leu119Arg) c.668T>G (p.Leu223Arg) c.365T>G (p.Leu122Arg) c.812T>G (p.Leu271Arg) | |
7 | g.99766427A>G | CA368370095 | CYP3A4 | c.815T>C (p.Leu272Pro) n.250T>C c.356T>C (p.Leu119Pro) c.668T>C (p.Leu223Pro) c.365T>C (p.Leu122Pro) c.812T>C (p.Leu271Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.99766427A>T | CA368370096 | CYP3A4 | c.815T>A (p.Leu272His) n.250T>A c.356T>A (p.Leu119His) c.668T>A (p.Leu223His) c.365T>A (p.Leu122His) c.812T>A (p.Leu271His) | |
7 | g.99766428G>A | CA368370097 | CYP3A4 | c.814C>T (p.Leu272Phe) n.249C>T c.355C>T (p.Leu119Phe) c.667C>T (p.Leu223Phe) c.364C>T (p.Leu122Phe) c.811C>T (p.Leu271Phe) | |
7 | g.99766428G>C | CA368370098 | CYP3A4 | c.814C>G (p.Leu272Val) n.249C>G c.355C>G (p.Leu119Val) c.667C>G (p.Leu223Val) c.364C>G (p.Leu122Val) c.811C>G (p.Leu271Val) | |
7 | g.99766428G>T | CA368370099 | CYP3A4 | c.814C>A (p.Leu272Ile) n.249C>A c.355C>A (p.Leu119Ile) c.667C>A (p.Leu223Ile) c.364C>A (p.Leu122Ile) c.811C>A (p.Leu271Ile) | |
7 | g.99766429G>A | CA456687962 | CYP3A4 | c.813C>T (p.Phe271=) n.248C>T c.354C>T (p.Phe118=) c.666C>T (p.Phe222=) c.363C>T (p.Phe121=) c.810C>T (p.Phe270=) | gnomAD v4 COSMIC |
7 | g.99766429G>C | CA368370100 | CYP3A4 | c.813C>G (p.Phe271Leu) n.248C>G c.354C>G (p.Phe118Leu) c.666C>G (p.Phe222Leu) c.363C>G (p.Phe121Leu) c.810C>G (p.Phe270Leu) | |
7 | g.99766429G>T | CA368370101 | CYP3A4 | c.813C>A (p.Phe271Leu) n.248C>A c.354C>A (p.Phe118Leu) c.666C>A (p.Phe222Leu) c.363C>A (p.Phe121Leu) c.810C>A (p.Phe270Leu) | |
7 | g.99766430A>C | CA368370102 | CYP3A4 | c.812T>G (p.Phe271Cys) n.247T>G c.353T>G (p.Phe118Cys) c.665T>G (p.Phe222Cys) c.362T>G (p.Phe121Cys) c.809T>G (p.Phe270Cys) | |
7 | g.99766430A>G | CA368370104 | CYP3A4 | c.812T>C (p.Phe271Ser) n.247T>C c.353T>C (p.Phe118Ser) c.665T>C (p.Phe222Ser) c.362T>C (p.Phe121Ser) c.809T>C (p.Phe270Ser) | |
7 | g.99766430A>T | CA368370103 | CYP3A4 | c.812T>A (p.Phe271Tyr) n.247T>A c.353T>A (p.Phe118Tyr) c.665T>A (p.Phe222Tyr) c.362T>A (p.Phe121Tyr) c.809T>A (p.Phe270Tyr) | |
7 | g.99766431A>C | CA368370105 | CYP3A4 | c.811T>G (p.Phe271Val) n.246T>G c.352T>G (p.Phe118Val) c.664T>G (p.Phe222Val) c.361T>G (p.Phe121Val) c.808T>G (p.Phe270Val) | |
7 | g.99766431A>G | CA368370106 | CYP3A4 | c.811T>C (p.Phe271Leu) n.246T>C c.352T>C (p.Phe118Leu) c.664T>C (p.Phe222Leu) c.361T>C (p.Phe121Leu) c.808T>C (p.Phe270Leu) | |
7 | g.99766431A>T | CA368370107 | CYP3A4 | c.811T>A (p.Phe271Ile) n.246T>A c.352T>A (p.Phe118Ile) c.664T>A (p.Phe222Ile) c.361T>A (p.Phe121Ile) c.808T>A (p.Phe270Ile) | |
7 | g.99766432A>C | CA368370108 | CYP3A4 | c.810T>G (p.Asp270Glu) n.245T>G c.351T>G (p.Asp117Glu) c.663T>G (p.Asp221Glu) c.360T>G (p.Asp120Glu) c.807T>G (p.Asp269Glu) | |
7 | g.99766432A>G | CA456687963 | CYP3A4 | c.810T>C (p.Asp270=) n.245T>C c.351T>C (p.Asp117=) c.663T>C (p.Asp221=) c.360T>C (p.Asp120=) c.807T>C (p.Asp269=) | |
7 | g.99766432A>T | CA368370109 | CYP3A4 | c.810T>A (p.Asp270Glu) n.245T>A c.351T>A (p.Asp117Glu) c.663T>A (p.Asp221Glu) c.360T>A (p.Asp120Glu) c.807T>A (p.Asp269Glu) | |
7 | g.99766433T>A | CA368370110 | CYP3A4 | c.809A>T (p.Asp270Val) n.244A>T c.350A>T (p.Asp117Val) c.662A>T (p.Asp221Val) c.359A>T (p.Asp120Val) c.806A>T (p.Asp269Val) | |
7 | g.99766433T>C | CA368370112 | CYP3A4 | c.809A>G (p.Asp270Gly) n.244A>G c.350A>G (p.Asp117Gly) c.662A>G (p.Asp221Gly) c.359A>G (p.Asp120Gly) c.806A>G (p.Asp269Gly) | |
7 | g.99766433T>G | CA368370111 | CYP3A4 | c.809A>C (p.Asp270Ala) n.244A>C c.350A>C (p.Asp117Ala) c.662A>C (p.Asp221Ala) c.359A>C (p.Asp120Ala) c.806A>C (p.Asp269Ala) | |
7 | g.99766433_99766434delinsTC | CA1729179404 | CYP3A4 | c.808_809delinsGA (p.Asp270=) n.243_244delinsGA c.349_350delinsGA (p.Asp117=) c.661_662delinsGA (p.Asp221=) c.358_359delinsGA (p.Asp120=) c.805_806delinsGA (p.Asp269=) | |
7 | g.99766434C>A | CA368370113 | CYP3A4 | c.808G>T (p.Asp270Tyr) n.243G>T c.349G>T (p.Asp117Tyr) c.661G>T (p.Asp221Tyr) c.358G>T (p.Asp120Tyr) c.805G>T (p.Asp269Tyr) | |
7 | g.99766434C>G | CA368370114 | CYP3A4 | c.808G>C (p.Asp270His) n.243G>C c.349G>C (p.Asp117His) c.661G>C (p.Asp221His) c.358G>C (p.Asp120His) c.805G>C (p.Asp269His) | |
7 | g.99766434C>T | CA368370115 | CYP3A4 | c.808G>A (p.Asp270Asn) n.243G>A c.349G>A (p.Asp117Asn) c.661G>A (p.Asp221Asn) c.358G>A (p.Asp120Asn) c.805G>A (p.Asp269Asn) | |
7 | g.99766435del | CA576401657 | CYP3A4 | c.808del (p.Asp270IlefsTer5) n.243del c.349del (p.Asp117IlefsTer5) c.661del (p.Asp221IlefsTer5) c.358del (p.Asp120IlefsTer5) c.805del (p.Asp269IlefsTer5) | dbSNP gnomAD v2 |
7 | g.99766435C>A | CA456687964 | CYP3A4 | c.807G>T (p.Val269=) n.242G>T c.348G>T (p.Val116=) c.660G>T (p.Val220=) c.357G>T (p.Val119=) c.804G>T (p.Val268=) | |
7 | g.99766435C>G | CA456687965 | CYP3A4 | c.807G>C (p.Val269=) n.242G>C c.348G>C (p.Val116=) c.660G>C (p.Val220=) c.357G>C (p.Val119=) c.804G>C (p.Val268=) | |
7 | g.99766435C>T | CA456687966 | CYP3A4 | c.807G>A (p.Val269=) n.242G>A c.348G>A (p.Val116=) c.660G>A (p.Val220=) c.357G>A (p.Val119=) c.804G>A (p.Val268=) | gnomAD v4 |
7 | g.99766436A>C | CA368370116 | CYP3A4 | c.806T>G (p.Val269Gly) n.241T>G c.347T>G (p.Val116Gly) c.659T>G (p.Val220Gly) c.356T>G (p.Val119Gly) c.803T>G (p.Val268Gly) | |
7 | g.99766436A>G | CA368370117 | CYP3A4 | c.806T>C (p.Val269Ala) n.241T>C c.347T>C (p.Val116Ala) c.659T>C (p.Val220Ala) c.356T>C (p.Val119Ala) c.803T>C (p.Val268Ala) | |
7 | g.99766436A>T | CA368370118 | CYP3A4 | c.806T>A (p.Val269Glu) n.241T>A c.347T>A (p.Val116Glu) c.659T>A (p.Val220Glu) c.356T>A (p.Val119Glu) c.803T>A (p.Val268Glu) | |
7 | g.99766437C>A | CA368370119 | CYP3A4 | c.805G>T (p.Val269Leu) n.240G>T c.346G>T (p.Val116Leu) c.658G>T (p.Val220Leu) c.355G>T (p.Val119Leu) c.802G>T (p.Val268Leu) | |
7 | g.99766437C>G | CA368370120 | CYP3A4 | c.805G>C (p.Val269Leu) n.240G>C c.346G>C (p.Val116Leu) c.658G>C (p.Val220Leu) c.355G>C (p.Val119Leu) c.802G>C (p.Val268Leu) | |
7 | g.99766437C>T | CA368370121 | CYP3A4 | c.805G>A (p.Val269Met) n.240G>A c.346G>A (p.Val116Met) c.658G>A (p.Val220Met) c.355G>A (p.Val119Met) c.802G>A (p.Val268Met) | |
7 | g.99766438T>A | CA456687970 | CYP3A4 | c.804A>T (p.Arg268=) n.239A>T c.345A>T (p.Arg115=) c.657A>T (p.Arg219=) c.354A>T (p.Arg118=) c.801A>T (p.Arg267=) | |
7 | g.99766438T>C | CA456687971 | CYP3A4 | c.804A>G (p.Arg268=) n.239A>G c.345A>G (p.Arg115=) c.657A>G (p.Arg219=) c.354A>G (p.Arg118=) c.801A>G (p.Arg267=) | dbSNP |
7 | g.99766438T>G | CA456687972 | CYP3A4 | c.804A>C (p.Arg268=) n.239A>C c.345A>C (p.Arg115=) c.657A>C (p.Arg219=) c.354A>C (p.Arg118=) c.801A>C (p.Arg267=) | |
7 | g.99766438T= | CA1729179409 | CYP3A4 | c.804A= (p.Arg268=) n.239A= c.345A= (p.Arg115=) c.657A= (p.Arg219=) c.354A= (p.Arg118=) c.801A= (p.Arg267=) | |
7 | g.99766439C>A | CA368370122 | CYP3A4 | c.803G>T (p.Arg268Leu) n.238G>T c.344G>T (p.Arg115Leu) c.656G>T (p.Arg219Leu) c.353G>T (p.Arg118Leu) c.800G>T (p.Arg267Leu) | |
7 | g.99766439C= | CA1729179413 | CYP3A4 | c.803G= (p.Arg268=) n.238G= c.344G= (p.Arg115=) c.656G= (p.Arg219=) c.353G= (p.Arg118=) c.800G= (p.Arg267=) | |
7 | g.99766439C>G | CA368370123 | CYP3A4 | c.803G>C (p.Arg268Pro) n.238G>C c.344G>C (p.Arg115Pro) c.656G>C (p.Arg219Pro) c.353G>C (p.Arg118Pro) c.800G>C (p.Arg267Pro) | |
7 | g.99766439C>T | CA4369627 | CYP3A4 | c.803G>A (p.Arg268Gln) n.238G>A c.344G>A (p.Arg115Gln) c.656G>A (p.Arg219Gln) c.353G>A (p.Arg118Gln) c.800G>A (p.Arg267Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |