Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99766311_99766316delCA2683985795CYP3A4c.865+61_865+66del (n.865+61_865+66del)
n.300+61_300+66del
c.406+61_406+66del (n.406+61_406+66del)
c.718+61_718+66del (n.718+61_718+66del)
c.415+61_415+66del (n.415+61_415+66del)
c.862+61_862+66del (n.862+61_862+66del)
gnomAD v4
7g.99766315T>ACA844513211CYP3A4c.865+62A>T (n.865+62A>T)
n.300+62A>T
c.406+62A>T (n.406+62A>T)
c.718+62A>T (n.718+62A>T)
c.415+62A>T (n.415+62A>T)
c.862+62A>T (n.862+62A>T)
dbSNP gnomAD v3 gnomAD v4
7g.99766315T=CA1729179269CYP3A4c.865+62A= (n.865+62A=)
n.300+62A=
c.406+62A= (n.406+62A=)
c.718+62A= (n.718+62A=)
c.415+62A= (n.415+62A=)
c.862+62A= (n.862+62A=)
7g.99766318C>TCA2578955139CYP3A4c.865+59G>A (n.865+59G>A)
n.300+59G>A
c.406+59G>A (n.406+59G>A)
c.718+59G>A (n.718+59G>A)
c.415+59G>A (n.415+59G>A)
c.862+59G>A (n.862+59G>A)
7g.99766319A>TCA2683985797CYP3A4c.865+58T>A (n.865+58T>A)
n.300+58T>A
c.406+58T>A (n.406+58T>A)
c.718+58T>A (n.718+58T>A)
c.415+58T>A (n.415+58T>A)
c.862+58T>A (n.862+58T>A)
gnomAD v4
7g.99766320G>CCA2683985798CYP3A4c.865+57C>G (n.865+57C>G)
n.300+57C>G
c.406+57C>G (n.406+57C>G)
c.718+57C>G (n.718+57C>G)
c.415+57C>G (n.415+57C>G)
c.862+57C>G (n.862+57C>G)
gnomAD v4
7g.99766321A=CA1729179272CYP3A4c.865+56T= (n.865+56T=)
n.300+56T=
c.406+56T= (n.406+56T=)
c.718+56T= (n.718+56T=)
c.415+56T= (n.415+56T=)
c.862+56T= (n.862+56T=)
7g.99766321A>GCA1104977981CYP3A4c.865+56T>C (n.865+56T>C)
n.300+56T>C
c.406+56T>C (n.406+56T>C)
c.718+56T>C (n.718+56T>C)
c.415+56T>C (n.415+56T>C)
c.862+56T>C (n.862+56T>C)
dbSNP gnomAD v3 gnomAD v4
7g.99766323C>ACA1104977990CYP3A4c.865+54G>T (n.865+54G>T)
n.300+54G>T
c.406+54G>T (n.406+54G>T)
c.718+54G>T (n.718+54G>T)
c.415+54G>T (n.415+54G>T)
c.862+54G>T (n.862+54G>T)
dbSNP gnomAD v3 gnomAD v4
7g.99766323C=CA1729179274CYP3A4c.865+54G= (n.865+54G=)
n.300+54G=
c.406+54G= (n.406+54G=)
c.718+54G= (n.718+54G=)
c.415+54G= (n.415+54G=)
c.862+54G= (n.862+54G=)
7g.99766324A>GCA2683985799CYP3A4c.865+53T>C (n.865+53T>C)
n.300+53T>C
c.406+53T>C (n.406+53T>C)
c.718+53T>C (n.718+53T>C)
c.415+53T>C (n.415+53T>C)
c.862+53T>C (n.862+53T>C)
gnomAD v4
7g.99766325A>TCA2683985800CYP3A4c.865+52T>A (n.865+52T>A)
n.300+52T>A
c.406+52T>A (n.406+52T>A)
c.718+52T>A (n.718+52T>A)
c.415+52T>A (n.415+52T>A)
c.862+52T>A (n.862+52T>A)
gnomAD v4
7g.99766326G>ACA2683985801CYP3A4c.865+51C>T (n.865+51C>T)
n.300+51C>T
c.406+51C>T (n.406+51C>T)
c.718+51C>T (n.718+51C>T)
c.415+51C>T (n.415+51C>T)
c.862+51C>T (n.862+51C>T)
gnomAD v4
7g.99766326G>CCA2683985802CYP3A4c.865+51C>G (n.865+51C>G)
n.300+51C>G
c.406+51C>G (n.406+51C>G)
c.718+51C>G (n.718+51C>G)
c.415+51C>G (n.415+51C>G)
c.862+51C>G (n.862+51C>G)
gnomAD v4
7g.99766327G>ACA1104977997CYP3A4c.865+50C>T (n.865+50C>T)
n.300+50C>T
c.406+50C>T (n.406+50C>T)
c.718+50C>T (n.718+50C>T)
c.415+50C>T (n.415+50C>T)
c.862+50C>T (n.862+50C>T)
dbSNP gnomAD v3 gnomAD v4
7g.99766327G>CCA1729179277CYP3A4c.865+50C>G (n.865+50C>G)
n.300+50C>G
c.406+50C>G (n.406+50C>G)
c.718+50C>G (n.718+50C>G)
c.415+50C>G (n.415+50C>G)
c.862+50C>G (n.862+50C>G)
dbSNP gnomAD v3 gnomAD v4
7g.99766327G=CA1729179275CYP3A4c.865+50C= (n.865+50C=)
n.300+50C=
c.406+50C= (n.406+50C=)
c.718+50C= (n.718+50C=)
c.415+50C= (n.415+50C=)
c.862+50C= (n.862+50C=)
7g.99766327G>TCA2578955140CYP3A4c.865+50C>A (n.865+50C>A)
n.300+50C>A
c.406+50C>A (n.406+50C>A)
c.718+50C>A (n.718+50C>A)
c.415+50C>A (n.415+50C>A)
c.862+50C>A (n.862+50C>A)
gnomAD v4
7g.99766328C>ACA844513216CYP3A4c.865+49G>T (n.865+49G>T)
n.300+49G>T
c.406+49G>T (n.406+49G>T)
c.718+49G>T (n.718+49G>T)
c.415+49G>T (n.415+49G>T)
c.862+49G>T (n.862+49G>T)
dbSNP gnomAD v4
7g.99766328C=CA1729179279CYP3A4c.865+49G= (n.865+49G=)
n.300+49G=
c.406+49G= (n.406+49G=)
c.718+49G= (n.718+49G=)
c.415+49G= (n.415+49G=)
c.862+49G= (n.862+49G=)
7g.99766328C>GCA576401645CYP3A4c.865+49G>C (n.865+49G>C)
n.300+49G>C
c.406+49G>C (n.406+49G>C)
c.718+49G>C (n.718+49G>C)
c.415+49G>C (n.415+49G>C)
c.862+49G>C (n.862+49G>C)
dbSNP gnomAD v2 gnomAD v4
7g.99766328C>TCA163152787CYP3A4c.865+49G>A (n.865+49G>A)
n.300+49G>A
c.406+49G>A (n.406+49G>A)
c.718+49G>A (n.718+49G>A)
c.415+49G>A (n.415+49G>A)
c.862+49G>A (n.862+49G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99766329_99766330delinsCTCA1729179282CYP3A4c.865+47_865+48delinsAG (n.865+47_865+48delinsAG)
n.300+47_300+48delinsAG
c.406+47_406+48delinsAG (n.406+47_406+48delinsAG)
c.718+47_718+48delinsAG (n.718+47_718+48delinsAG)
c.415+47_415+48delinsAG (n.415+47_415+48delinsAG)
c.862+47_862+48delinsAG (n.862+47_862+48delinsAG)
7g.99766330T>ACA2683985803CYP3A4c.865+47A>T (n.865+47A>T)
n.300+47A>T
c.406+47A>T (n.406+47A>T)
c.718+47A>T (n.718+47A>T)
c.415+47A>T (n.415+47A>T)
c.862+47A>T (n.862+47A>T)
gnomAD v4
7g.99766330T>CCA2715604175CYP3A4c.865+47A>G (n.865+47A>G)
n.300+47A>G
c.406+47A>G (n.406+47A>G)
c.718+47A>G (n.718+47A>G)
c.415+47A>G (n.415+47A>G)
c.862+47A>G (n.862+47A>G)
dbSNP
7g.99766331delCA4369618CYP3A4c.865+47del (n.865+47del)
n.300+47del
c.406+47del (n.406+47del)
c.718+47del (n.718+47del)
c.415+47del (n.415+47del)
c.862+47del (n.862+47del)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99766331T>GCA2683985804CYP3A4c.865+46A>C (n.865+46A>C)
n.300+46A>C
c.406+46A>C (n.406+46A>C)
c.718+46A>C (n.718+46A>C)
c.415+46A>C (n.415+46A>C)
c.862+46A>C (n.862+46A>C)
gnomAD v4
7g.99766334C>TCA2683985805CYP3A4c.865+43G>A (n.865+43G>A)
n.300+43G>A
c.406+43G>A (n.406+43G>A)
c.718+43G>A (n.718+43G>A)
c.415+43G>A (n.415+43G>A)
c.862+43G>A (n.862+43G>A)
gnomAD v4
7g.99766336_99766337delCA2578955141CYP3A4c.865+42_865+43del (n.865+42_865+43del)
n.300+42_300+43del
c.406+42_406+43del (n.406+42_406+43del)
c.718+42_718+43del (n.718+42_718+43del)
c.415+42_415+43del (n.415+42_415+43del)
c.862+42_862+43del (n.862+42_862+43del)
gnomAD v4
7g.99766336C=CA1729179285CYP3A4c.865+41G= (n.865+41G=)
n.300+41G=
c.406+41G= (n.406+41G=)
c.718+41G= (n.718+41G=)
c.415+41G= (n.415+41G=)
c.862+41G= (n.862+41G=)
7g.99766336C>GCA1729179286CYP3A4c.865+41G>C (n.865+41G>C)
n.300+41G>C
c.406+41G>C (n.406+41G>C)
c.718+41G>C (n.718+41G>C)
c.415+41G>C (n.415+41G>C)
c.862+41G>C (n.862+41G>C)
dbSNP
7g.99766339_99766340delCA2715604225CYP3A4c.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
7g.99766342_99766352delCA2683985806CYP3A4c.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
7g.99766340G>ACA2683985807CYP3A4c.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
7g.99766341T>GCA1729179289CYP3A4c.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
7g.99766341T=CA1729179288CYP3A4c.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=)
7g.99766342G>ACA576401647CYP3A4c.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
7g.99766342G=CA1729179290CYP3A4c.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=)
7g.99766343C>TCA2683985808CYP3A4c.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
7g.99766344C>TCA2683985809CYP3A4c.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
7g.99766345C=CA1729179292CYP3A4c.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=)
7g.99766345C>TCA163152790CYP3A4c.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
7g.99766346C>TCA2578955142CYP3A4c.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
7g.99766347A>GCA2506712319CYP3A4c.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)
7g.99766348C=CA1729179295CYP3A4c.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=)
7g.99766348C>GCA576401649CYP3A4c.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
7g.99766348C>TCA2578955143CYP3A4c.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
7g.99766350A=CA1729179299CYP3A4c.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=)
7g.99766350A>GCA844513221CYP3A4c.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
7g.99766351G>ACA2683985810CYP3A4c.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
7g.99766352T>CCA2683985811CYP3A4c.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
7g.99766353delCA2683985812CYP3A4c.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
7g.99766353A=CA1729179302CYP3A4c.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=)
7g.99766353A>GCA576401651CYP3A4c.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
7g.99766354G>ACA4369619CYP3A4c.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
7g.99766354G>CCA576401653CYP3A4c.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
7g.99766354G=CA1729179305CYP3A4c.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=)
7g.99766355C=CA1729179308CYP3A4c.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=)
7g.99766355C>TCA1729179309CYP3A4c.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
7g.99766357C=CA1729179310CYP3A4c.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=)
7g.99766357C>GCA844513228CYP3A4c.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
7g.99766362A=CA1729179312CYP3A4c.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=)
7g.99766362A>TCA4369620CYP3A4c.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
7g.99766364delCA2578955144CYP3A4c.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)
7g.99766366delCA2683985813CYP3A4c.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
7g.99766366A=CA1729179315CYP3A4c.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=)
7g.99766366A>CCA2683985814CYP3A4c.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
7g.99766366A>GCA1729179317CYP3A4c.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
7g.99766367C=CA1729179321CYP3A4c.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=)
7g.99766367C>TCA1729179322CYP3A4c.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
7g.99766369C>ACA2558754537CYP3A4c.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)
7g.99766369C>GCA2578955145CYP3A4c.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)
7g.99766370T>ACA4369621CYP3A4c.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
7g.99766370T=CA1729179325CYP3A4c.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=)
7g.99766371G>CCA2683985815CYP3A4c.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
7g.99766371G>TCA2683985816CYP3A4c.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
7g.99766372G>CCA2683985817CYP3A4c.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
7g.99766372_99766373delinsGTCA1729179326CYP3A4c.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)
7g.99766373T>CCA2578955146CYP3A4c.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)
7g.99766374delCA4369622CYP3A4c.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
7g.99766375A=CA1729179330CYP3A4c.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=)
7g.99766375A>CCA368369971CYP3A4c.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)
7g.99766375A>GCA368369970CYP3A4c.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
7g.99766375A>TCA368369969CYP3A4c.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)
7g.99766376C>ACA368369972CYP3A4c.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)
7g.99766376C>GCA368369974CYP3A4c.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
7g.99766376C>TCA368369973CYP3A4c.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)
7g.99766377C>ACA368369975CYP3A4c.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
7g.99766377C=CA1729179337CYP3A4c.865G= (p.Ala289=)
n.300G=
c.406G= (p.Ala136=)
c.718G= (p.Ala240=)
c.415G= (p.Ala139=)
c.862G= (p.Ala288=)
7g.99766377C>GCA368369976CYP3A4c.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)
7g.99766377C>TCA368369977CYP3A4c.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)
7g.99766378T>ACA368369978CYP3A4c.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)
7g.99766378T>CCA456687891CYP3A4c.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=)
7g.99766378T>GCA368369979CYP3A4c.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)
7g.99766380dupCA2683985818CYP3A4c.864dup (p.Ala289SerfsTer20)
n.299dup
c.405dup (p.Ala136SerfsTer20)
c.717dup (p.Ala240SerfsTer20)
c.414dup (p.Ala139SerfsTer20)
c.861dup (p.Ala288SerfsTer20)
gnomAD v4
7g.99766380delCA2550201763CYP3A4c.864del (p.Ala289LeufsTer?)
n.299del
c.405del (p.Ala136LeufsTer?)
c.717del (p.Ala240LeufsTer?)
c.414del (p.Ala139LeufsTer?)
c.861del (p.Ala288LeufsTer?)
7g.99766379T>ACA368369980CYP3A4c.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)
7g.99766379T>CCA368369981CYP3A4c.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
7g.99766379T>GCA368369982CYP3A4c.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)
7g.99766379T=CA1729179342CYP3A4c.863A= (p.Lys288=)
n.298A=
c.404A= (p.Lys135=)
c.716A= (p.Lys239=)
c.413A= (p.Lys138=)
c.860A= (p.Lys287=)
7g.99766380T>ACA368369983CYP3A4c.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)
7g.99766380T>CCA368369984CYP3A4c.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)
7g.99766380T>GCA368369985CYP3A4c.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)
7g.99766381G>ACA456687898CYP3A4c.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=)
7g.99766381G>CCA368369987CYP3A4c.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)
7g.99766381G>TCA368369986CYP3A4c.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)
7g.99766382T>ACA368369988CYP3A4c.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)
7g.99766382T>CCA368369989CYP3A4c.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
7g.99766382T>GCA368369990CYP3A4c.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)
7g.99766383G>ACA368369991CYP3A4c.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
7g.99766383G>CCA368369992CYP3A4c.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)
7g.99766383G>TCA368369993CYP3A4c.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)
7g.99766384G>ACA456687902CYP3A4c.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=)
7g.99766384G>CCA456687904CYP3A4c.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=)
7g.99766384G>TCA456687905CYP3A4c.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=)
7g.99766385G>ACA368369994CYP3A4c.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
7g.99766385G>CCA368369995CYP3A4c.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)
7g.99766385G>TCA368369996CYP3A4c.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)
7g.99766386A=CA1729179348CYP3A4c.856T= (p.Ser286=)
n.291T=
c.397T= (p.Ser133=)
c.709T= (p.Ser237=)
c.406T= (p.Ser136=)
c.853T= (p.Ser285=)
7g.99766386A>CCA368369997CYP3A4c.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)
7g.99766386A>GCA368369998CYP3A4c.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
7g.99766386A>TCA368369999CYP3A4c.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)
7g.99766387C>ACA368370001CYP3A4c.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)
7g.99766387C>GCA368370000CYP3A4c.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)
7g.99766387C>TCA456687910CYP3A4c.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
7g.99766388T>ACA368370002CYP3A4c.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
7g.99766388T>CCA368370003CYP3A4c.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
7g.99766388T>GCA368370004CYP3A4c.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)
7g.99766388T=CA1729179351CYP3A4c.854A= (p.Glu285=)
n.289A=
c.395A= (p.Glu132=)
c.707A= (p.Glu236=)
c.404A= (p.Glu135=)
c.851A= (p.Glu284=)
7g.99766389C>ACA368370005CYP3A4c.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)
7g.99766389C>GCA368370006CYP3A4c.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)
7g.99766389C>TCA368370007CYP3A4c.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
7g.99766390A>CCA456687913CYP3A4c.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
7g.99766390A>GCA456687914CYP3A4c.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
7g.99766390A>TCA456687915CYP3A4c.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=)
7g.99766391G>ACA368370010CYP3A4c.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)
7g.99766391G>CCA368370008CYP3A4c.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)
7g.99766391G>TCA368370009CYP3A4c.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)
7g.99766392T>ACA368370011CYP3A4c.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
7g.99766392T>CCA368370012CYP3A4c.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)
7g.99766392T>GCA368370013CYP3A4c.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)
7g.99766393T>ACA368370014CYP3A4c.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)
7g.99766393T>CCA456687919CYP3A4c.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
7g.99766393T>GCA368370015CYP3A4c.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
7g.99766393T=CA1729179353CYP3A4c.849A= (p.Glu283=)
n.284A=
c.390A= (p.Glu130=)
c.702A= (p.Glu234=)
c.399A= (p.Glu133=)
c.846A= (p.Glu282=)
7g.99766394T>ACA368370016CYP3A4c.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)
7g.99766394T>CCA368370018CYP3A4c.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)
7g.99766394T>GCA368370017CYP3A4c.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)
7g.99766395C>ACA368370019CYP3A4c.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)
7g.99766395C>GCA368370020CYP3A4c.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)
7g.99766395C>TCA368370021CYP3A4c.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)
7g.99766396T>ACA368370022CYP3A4c.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)
7g.99766396T>CCA456687925CYP3A4c.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=)
7g.99766396T>GCA368370023CYP3A4c.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)
7g.99766397T>ACA368370024CYP3A4c.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)
7g.99766397T>CCA368370025CYP3A4c.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)
7g.99766397T>GCA368370026CYP3A4c.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)
7g.99766398T>ACA368370027CYP3A4c.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)
7g.99766398T>CCA368370028CYP3A4c.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
7g.99766398T>GCA368370029CYP3A4c.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)
7g.99766398T=CA1729179355CYP3A4c.844A= (p.Lys282=)
n.279A=
c.385A= (p.Lys129=)
c.697A= (p.Lys233=)
c.394A= (p.Lys132=)
c.841A= (p.Lys281=)
7g.99766399T>ACA456687927CYP3A4c.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=)
7g.99766399T>CCA4369623CYP3A4c.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
7g.99766399T>GCA456687929CYP3A4c.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
7g.99766399T=CA1729179357CYP3A4c.843A= (p.Ser281=)
n.278A=
c.384A= (p.Ser128=)
c.696A= (p.Ser232=)
c.393A= (p.Ser131=)
c.840A= (p.Ser280=)
7g.99766400G>ACA368370031CYP3A4c.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)
7g.99766400G>CCA368370032CYP3A4c.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)
7g.99766400G>TCA368370030CYP3A4c.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)
7g.99766400_99766401delinsGACA1729179362CYP3A4c.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=)
7g.99766401A>CCA368370035CYP3A4c.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)
7g.99766401A>GCA368370033CYP3A4c.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)
7g.99766401A>TCA368370034CYP3A4c.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)
7g.99766402delCA4369624CYP3A4c.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
7g.99766402A>CCA368370036CYP3A4c.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)
7g.99766402A>GCA456687933CYP3A4c.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=)
7g.99766402A>TCA368370037CYP3A4c.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)
7g.99766403T>ACA368370038CYP3A4c.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)
7g.99766403T>CCA368370039CYP3A4c.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)
7g.99766403T>GCA368370040CYP3A4c.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)
7g.99766404T>ACA368370041CYP3A4c.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)
7g.99766404T>CCA368370042CYP3A4c.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)
7g.99766404T>GCA368370043CYP3A4c.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)
7g.99766405C>ACA368370044CYP3A4c.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)
7g.99766405C>GCA368370045CYP3A4c.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)
7g.99766405C>TCA456687937CYP3A4c.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
7g.99766406T>ACA368370048CYP3A4c.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)
7g.99766406T>CCA368370046CYP3A4c.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)
7g.99766406T>GCA368370047CYP3A4c.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)
7g.99766406_99766408delinsTGACA1729179370CYP3A4c.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=)
7g.99766407G>ACA368370049CYP3A4c.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)
7g.99766407G>CCA368370050CYP3A4c.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)
7g.99766407G>TCA368370051CYP3A4c.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)
7g.99766410_99766411delCA1729179374CYP3A4c.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
7g.99766408A>CCA456687940CYP3A4c.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=)
7g.99766408A>GCA456687941CYP3A4c.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=)
7g.99766408A>TCA456687942CYP3A4c.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=)
7g.99766409G>ACA368370052CYP3A4c.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)
7g.99766409G>CCA368370053CYP3A4c.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)
7g.99766409G>TCA368370054CYP3A4c.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)
7g.99766410A=CA1729179378CYP3A4c.832T= (p.Ser278=)
n.267T=
c.373T= (p.Ser125=)
c.685T= (p.Ser229=)
c.382T= (p.Ser128=)
c.829T= (p.Ser277=)
7g.99766410A>CCA368370055CYP3A4c.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)
7g.99766410A>GCA368370056CYP3A4c.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
7g.99766410A>TCA368370057CYP3A4c.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)
7g.99766411G>ACA456687943CYP3A4c.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=)
7g.99766411G>CCA368370058CYP3A4c.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)
7g.99766411G=CA1729179382CYP3A4c.831C= (p.Asp277=)
n.266C=
c.372C= (p.Asp124=)
c.684C= (p.Asp228=)
c.381C= (p.Asp127=)
c.828C= (p.Asp276=)
7g.99766411G>TCA368370059CYP3A4c.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)
7g.99766412T>ACA368370062CYP3A4c.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)
7g.99766412T>CCA368370061CYP3A4c.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)
7g.99766412T>GCA368370060CYP3A4c.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)
7g.99766412T=CA2580771273CYP3A4c.830A= (p.Asp277=)
n.265A=
c.371A= (p.Asp124=)
c.683A= (p.Asp228=)
c.380A= (p.Asp127=)
c.827A= (p.Asp276=)
7g.99766412dupCA4369625CYP3A4c.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
7g.99766413C>ACA368370063CYP3A4c.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)
7g.99766413C=CA1729179390CYP3A4c.829G= (p.Asp277=)
n.264G=
c.370G= (p.Asp124=)
c.682G= (p.Asp228=)
c.379G= (p.Asp127=)
c.826G= (p.Asp276=)
7g.99766413C>GCA368370064CYP3A4c.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
7g.99766413C>TCA4369626CYP3A4c.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
7g.99766414A>CCA368370065CYP3A4c.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)
7g.99766414A>GCA456687944CYP3A4c.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=)
7g.99766414A>TCA456687945CYP3A4c.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
7g.99766415A=CA1729179392CYP3A4c.827T= (p.Ile276=)
n.262T=
c.368T= (p.Ile123=)
c.680T= (p.Ile227=)
c.377T= (p.Ile126=)
c.824T= (p.Ile275=)
7g.99766415A>CCA368370066CYP3A4c.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)
7g.99766415A>GCA368370067CYP3A4c.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
7g.99766415A>TCA368370068CYP3A4c.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)

Number of alleles fetched