Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99768355_99768361delinsTATTGAGCA1729180854CYP3A4c.663_669delinsCTCAATA (p.Leu221=)
c.204_210delinsCTCAATA (p.Leu68=)
c.516_522delinsCTCAATA (p.Leu172=)
c.213_219delinsCTCAATA (p.Leu71=)
7g.99768357_99768362delCA1729180855CYP3A4c.663_668del (p.Ser222_Ile223del)
c.204_209del (p.Ser69_Ile70del)
c.516_521del (p.Ser173_Ile174del)
c.213_218del (p.Ser72_Ile73del)
dbSNP
7g.99768360A=CA1729180857CYP3A4c.664T= (p.Ser222=)
c.205T= (p.Ser69=)
c.517T= (p.Ser173=)
c.214T= (p.Ser72=)
7g.99768360A>CCA368370622CYP3A4c.664T>G (p.Ser222Ala)
c.205T>G (p.Ser69Ala)
c.517T>G (p.Ser173Ala)
c.214T>G (p.Ser72Ala)
7g.99768360A>GCA4369682CYP3A4c.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
7g.99768360A>TCA368370626CYP3A4c.664T>A (p.Ser222Thr)
c.205T>A (p.Ser69Thr)
c.517T>A (p.Ser173Thr)
c.214T>A (p.Ser72Thr)
dbSNP gnomAD v3 gnomAD v4
7g.99768361G>ACA4369683CYP3A4c.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
7g.99768361G>CCA456690114CYP3A4c.663C>G (p.Leu221=)
c.204C>G (p.Leu68=)
c.516C>G (p.Leu172=)
c.213C>G (p.Leu71=)
7g.99768361G=CA1729180858CYP3A4c.663C= (p.Leu221=)
c.204C= (p.Leu68=)
c.516C= (p.Leu172=)
c.213C= (p.Leu71=)
7g.99768361G>TCA456690115CYP3A4c.663C>A (p.Leu221=)
c.204C>A (p.Leu68=)
c.516C>A (p.Leu172=)
c.213C>A (p.Leu71=)
7g.99768362A>CCA368370633CYP3A4c.662T>G (p.Leu221Arg)
c.203T>G (p.Leu68Arg)
c.515T>G (p.Leu172Arg)
c.212T>G (p.Leu71Arg)
7g.99768362A>GCA368370631CYP3A4c.662T>C (p.Leu221Pro)
c.203T>C (p.Leu68Pro)
c.515T>C (p.Leu172Pro)
c.212T>C (p.Leu71Pro)
7g.99768362A>TCA368370634CYP3A4c.662T>A (p.Leu221His)
c.203T>A (p.Leu68His)
c.515T>A (p.Leu172His)
c.212T>A (p.Leu71His)
7g.99768366_99768369delCA2578955196CYP3A4c.659_662del (p.Phe220SerfsTer3)
c.200_203del (p.Phe67SerfsTer3)
c.512_515del (p.Phe171SerfsTer3)
c.209_212del (p.Phe70SerfsTer3)
7g.99768363G>ACA368370635CYP3A4c.661C>T (p.Leu221Phe)
c.202C>T (p.Leu68Phe)
c.514C>T (p.Leu172Phe)
c.211C>T (p.Leu71Phe)
7g.99768363G>CCA368370636CYP3A4c.661C>G (p.Leu221Val)
c.202C>G (p.Leu68Val)
c.514C>G (p.Leu172Val)
c.211C>G (p.Leu71Val)
7g.99768363G>TCA368370637CYP3A4c.661C>A (p.Leu221Ile)
c.202C>A (p.Leu68Ile)
c.514C>A (p.Leu172Ile)
c.211C>A (p.Leu71Ile)
7g.99768364A>CCA368370639CYP3A4c.660T>G (p.Phe220Leu)
c.201T>G (p.Phe67Leu)
c.513T>G (p.Phe171Leu)
c.210T>G (p.Phe70Leu)
7g.99768364A>GCA456690116CYP3A4c.660T>C (p.Phe220=)
c.201T>C (p.Phe67=)
c.513T>C (p.Phe171=)
c.210T>C (p.Phe70=)
7g.99768364A>TCA368370641CYP3A4c.660T>A (p.Phe220Leu)
c.201T>A (p.Phe67Leu)
c.513T>A (p.Phe171Leu)
c.210T>A (p.Phe70Leu)
7g.99768365A=CA1729180859CYP3A4c.659T= (p.Phe220=)
c.200T= (p.Phe67=)
c.512T= (p.Phe171=)
c.209T= (p.Phe70=)
7g.99768365A>CCA368370643CYP3A4c.659T>G (p.Phe220Cys)
c.200T>G (p.Phe67Cys)
c.512T>G (p.Phe171Cys)
c.209T>G (p.Phe70Cys)
dbSNP
7g.99768365A>GCA368370645CYP3A4c.659T>C (p.Phe220Ser)
c.200T>C (p.Phe67Ser)
c.512T>C (p.Phe171Ser)
c.209T>C (p.Phe70Ser)
7g.99768365A>TCA368370646CYP3A4c.659T>A (p.Phe220Tyr)
c.200T>A (p.Phe67Tyr)
c.512T>A (p.Phe171Tyr)
c.209T>A (p.Phe70Tyr)
7g.99768366A=CA1729180860CYP3A4c.658T= (p.Phe220=)
c.199T= (p.Phe67=)
c.511T= (p.Phe171=)
c.208T= (p.Phe70=)
7g.99768366A>CCA4369684CYP3A4c.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
7g.99768366A>GCA368370651CYP3A4c.658T>C (p.Phe220Leu)
c.199T>C (p.Phe67Leu)
c.511T>C (p.Phe171Leu)
c.208T>C (p.Phe70Leu)
7g.99768366A>TCA368370653CYP3A4c.658T>A (p.Phe220Ile)
c.199T>A (p.Phe67Ile)
c.511T>A (p.Phe171Ile)
c.208T>A (p.Phe70Ile)
7g.99768367G>ACA456690117CYP3A4c.657C>T (p.Phe219=)
c.198C>T (p.Phe66=)
c.510C>T (p.Phe170=)
c.207C>T (p.Phe69=)
7g.99768367G>CCA368370655CYP3A4c.657C>G (p.Phe219Leu)
c.198C>G (p.Phe66Leu)
c.510C>G (p.Phe170Leu)
c.207C>G (p.Phe69Leu)
7g.99768367G>TCA368370656CYP3A4c.657C>A (p.Phe219Leu)
c.198C>A (p.Phe66Leu)
c.510C>A (p.Phe170Leu)
c.207C>A (p.Phe69Leu)
COSMIC
7g.99768368A>CCA368370658CYP3A4c.656T>G (p.Phe219Cys)
c.197T>G (p.Phe66Cys)
c.509T>G (p.Phe170Cys)
c.206T>G (p.Phe69Cys)
7g.99768368A>GCA368370663CYP3A4c.656T>C (p.Phe219Ser)
c.197T>C (p.Phe66Ser)
c.509T>C (p.Phe170Ser)
c.206T>C (p.Phe69Ser)
7g.99768368A>TCA368370661CYP3A4c.656T>A (p.Phe219Tyr)
c.197T>A (p.Phe66Tyr)
c.509T>A (p.Phe170Tyr)
c.206T>A (p.Phe69Tyr)
7g.99768369A=CA1729180861CYP3A4c.655T= (p.Phe219=)
c.196T= (p.Phe66=)
c.508T= (p.Phe170=)
c.205T= (p.Phe69=)
7g.99768369A>CCA368370665CYP3A4c.655T>G (p.Phe219Val)
c.196T>G (p.Phe66Val)
c.508T>G (p.Phe170Val)
c.205T>G (p.Phe69Val)
7g.99768369A>GCA4369685CYP3A4c.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
7g.99768369A>TCA368370668CYP3A4c.655T>A (p.Phe219Ile)
c.196T>A (p.Phe66Ile)
c.508T>A (p.Phe170Ile)
c.205T>A (p.Phe69Ile)
7g.99768370T>ACA456690118CYP3A4c.654A>T (p.Pro218=)
c.195A>T (p.Pro65=)
c.507A>T (p.Pro169=)
c.204A>T (p.Pro68=)
7g.99768370T>CCA456690120CYP3A4c.654A>G (p.Pro218=)
c.195A>G (p.Pro65=)
c.507A>G (p.Pro169=)
c.204A>G (p.Pro68=)
7g.99768370T>GCA456690119CYP3A4c.654A>C (p.Pro218=)
c.195A>C (p.Pro65=)
c.507A>C (p.Pro169=)
c.204A>C (p.Pro68=)
7g.99768371G>ACA368370671CYP3A4c.653C>T (p.Pro218Leu)
c.194C>T (p.Pro65Leu)
c.506C>T (p.Pro169Leu)
c.203C>T (p.Pro68Leu)
COSMIC
7g.99768371G>CCA4369686CYP3A4c.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
7g.99768371G=CA1729180862CYP3A4c.653C= (p.Pro218=)
c.194C= (p.Pro65=)
c.506C= (p.Pro169=)
c.203C= (p.Pro68=)
7g.99768371G>TCA368370675CYP3A4c.653C>A (p.Pro218Gln)
c.194C>A (p.Pro65Gln)
c.506C>A (p.Pro169Gln)
c.203C>A (p.Pro68Gln)
7g.99768372G>ACA368370678CYP3A4c.652C>T (p.Pro218Ser)
c.193C>T (p.Pro65Ser)
c.505C>T (p.Pro169Ser)
c.202C>T (p.Pro68Ser)
7g.99768372G>CCA368370679CYP3A4c.652C>G (p.Pro218Ala)
c.193C>G (p.Pro65Ala)
c.505C>G (p.Pro169Ala)
c.202C>G (p.Pro68Ala)
7g.99768372G>TCA368370682CYP3A4c.652C>A (p.Pro218Thr)
c.193C>A (p.Pro65Thr)
c.505C>A (p.Pro169Thr)
c.202C>A (p.Pro68Thr)
dbSNP gnomAD v4
7g.99768373A>CCA368370685CYP3A4c.651T>G (p.Asp217Glu)
c.192T>G (p.Asp64Glu)
c.504T>G (p.Asp168Glu)
c.201T>G (p.Asp67Glu)
7g.99768373A>GCA456690121CYP3A4c.651T>C (p.Asp217=)
c.192T>C (p.Asp64=)
c.504T>C (p.Asp168=)
c.201T>C (p.Asp67=)

Number of alleles fetched