Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99767175A=CA1729179981CYP3A4c.754T= (p.Ser252=)
n.189T=
c.295T= (p.Ser99=)
c.607T= (p.Ser203=)
c.304T= (p.Ser102=)
c.751T= (p.Ser251=)
7g.99767175A>CCA163153075CYP3A4c.754T>G (p.Ser252Ala)
n.189T>G
c.295T>G (p.Ser99Ala)
c.607T>G (p.Ser203Ala)
c.304T>G (p.Ser102Ala)
c.751T>G (p.Ser251Ala)
dbSNP
7g.99767175A>GCA368370248CYP3A4c.754T>C (p.Ser252Pro)
n.189T>C
c.295T>C (p.Ser99Pro)
c.607T>C (p.Ser203Pro)
c.304T>C (p.Ser102Pro)
c.751T>C (p.Ser251Pro)
7g.99767175A>TCA163153077CYP3A4c.754T>A (p.Ser252Thr)
n.189T>A
c.295T>A (p.Ser99Thr)
c.607T>A (p.Ser203Thr)
c.304T>A (p.Ser102Thr)
c.751T>A (p.Ser251Thr)
dbSNP gnomAD v4
7g.99767176T>ACA368370249CYP3A4c.753A>T (p.Lys251Asn)
n.188A>T
c.294A>T (p.Lys98Asn)
c.606A>T (p.Lys202Asn)
c.303A>T (p.Lys101Asn)
c.750A>T (p.Lys250Asn)
7g.99767176T>CCA456689738CYP3A4c.753A>G (p.Lys251=)
n.188A>G
c.294A>G (p.Lys98=)
c.606A>G (p.Lys202=)
c.303A>G (p.Lys101=)
c.750A>G (p.Lys250=)
7g.99767176T>GCA368370250CYP3A4c.753A>C (p.Lys251Asn)
n.188A>C
c.294A>C (p.Lys98Asn)
c.606A>C (p.Lys202Asn)
c.303A>C (p.Lys101Asn)
c.750A>C (p.Lys250Asn)
7g.99767177T>ACA368370251CYP3A4c.752A>T (p.Lys251Ile)
n.187A>T
c.293A>T (p.Lys98Ile)
c.605A>T (p.Lys202Ile)
c.302A>T (p.Lys101Ile)
c.749A>T (p.Lys250Ile)
7g.99767177T>CCA368370252CYP3A4c.752A>G (p.Lys251Arg)
n.187A>G
c.293A>G (p.Lys98Arg)
c.605A>G (p.Lys202Arg)
c.302A>G (p.Lys101Arg)
c.749A>G (p.Lys250Arg)
7g.99767177T>GCA368370253CYP3A4c.752A>C (p.Lys251Thr)
n.187A>C
c.293A>C (p.Lys98Thr)
c.605A>C (p.Lys202Thr)
c.302A>C (p.Lys101Thr)
c.749A>C (p.Lys250Thr)
dbSNP gnomAD v2
7g.99767177T=CA1729179987CYP3A4c.752A= (p.Lys251=)
n.187A=
c.293A= (p.Lys98=)
c.605A= (p.Lys202=)
c.302A= (p.Lys101=)
c.749A= (p.Lys250=)
7g.99767178T>ACA368370254CYP3A4c.751A>T (p.Lys251Ter)
n.186A>T
c.292A>T (p.Lys98Ter)
c.604A>T (p.Lys202Ter)
c.301A>T (p.Lys101Ter)
c.748A>T (p.Lys250Ter)
7g.99767178T>CCA368370255CYP3A4c.751A>G (p.Lys251Glu)
n.186A>G
c.292A>G (p.Lys98Glu)
c.604A>G (p.Lys202Glu)
c.301A>G (p.Lys101Glu)
c.748A>G (p.Lys250Glu)
7g.99767178T>GCA368370256CYP3A4c.751A>C (p.Lys251Gln)
n.186A>C
c.292A>C (p.Lys98Gln)
c.604A>C (p.Lys202Gln)
c.301A>C (p.Lys101Gln)
c.748A>C (p.Lys250Gln)
7g.99767179T>ACA368370258CYP3A4c.750A>T (p.Arg250Ser)
n.185A>T
c.291A>T (p.Arg97Ser)
c.603A>T (p.Arg201Ser)
c.300A>T (p.Arg100Ser)
c.747A>T (p.Arg249Ser)
7g.99767179T>CCA456689745CYP3A4c.750A>G (p.Arg250=)
n.185A>G
c.291A>G (p.Arg97=)
c.603A>G (p.Arg201=)
c.300A>G (p.Arg100=)
c.747A>G (p.Arg249=)
7g.99767179T>GCA368370257CYP3A4c.750A>C (p.Arg250Ser)
n.185A>C
c.291A>C (p.Arg97Ser)
c.603A>C (p.Arg201Ser)
c.300A>C (p.Arg100Ser)
c.747A>C (p.Arg249Ser)
7g.99767180C>ACA368370259CYP3A4c.749G>T (p.Arg250Ile)
n.184G>T
c.290G>T (p.Arg97Ile)
c.602G>T (p.Arg201Ile)
c.299G>T (p.Arg100Ile)
c.746G>T (p.Arg249Ile)
7g.99767180C>GCA368370260CYP3A4c.749G>C (p.Arg250Thr)
n.184G>C
c.290G>C (p.Arg97Thr)
c.602G>C (p.Arg201Thr)
c.299G>C (p.Arg100Thr)
c.746G>C (p.Arg249Thr)
7g.99767180C>TCA368370261CYP3A4c.749G>A (p.Arg250Lys)
n.184G>A
c.290G>A (p.Arg97Lys)
c.602G>A (p.Arg201Lys)
c.299G>A (p.Arg100Lys)
c.746G>A (p.Arg249Lys)
7g.99767181T>ACA368370262CYP3A4c.748A>T (p.Arg250Ter)
n.183A>T
c.289A>T (p.Arg97Ter)
c.601A>T (p.Arg201Ter)
c.298A>T (p.Arg100Ter)
c.745A>T (p.Arg249Ter)
7g.99767181T>CCA368370263CYP3A4c.748A>G (p.Arg250Gly)
n.183A>G
c.289A>G (p.Arg97Gly)
c.601A>G (p.Arg201Gly)
c.298A>G (p.Arg100Gly)
c.745A>G (p.Arg249Gly)
7g.99767181T>GCA456689751CYP3A4c.748A>C (p.Arg250=)
n.183A>C
c.289A>C (p.Arg97=)
c.601A>C (p.Arg201=)
c.298A>C (p.Arg100=)
c.745A>C (p.Arg249=)
7g.99767182T>ACA368370264CYP3A4c.747A>T (p.Leu249Phe)
n.182A>T
c.288A>T (p.Leu96Phe)
c.600A>T (p.Leu200Phe)
c.297A>T (p.Leu99Phe)
c.744A>T (p.Leu248Phe)
7g.99767182T>CCA456689754CYP3A4c.747A>G (p.Leu249=)
n.182A>G
c.288A>G (p.Leu96=)
c.600A>G (p.Leu200=)
c.297A>G (p.Leu99=)
c.744A>G (p.Leu248=)
7g.99767182T>GCA368370265CYP3A4c.747A>C (p.Leu249Phe)
n.182A>C
c.288A>C (p.Leu96Phe)
c.600A>C (p.Leu200Phe)
c.297A>C (p.Leu99Phe)
c.744A>C (p.Leu248Phe)
7g.99767182T=CA1729179990CYP3A4c.747A= (p.Leu249=)
n.182A=
c.288A= (p.Leu96=)
c.600A= (p.Leu200=)
c.297A= (p.Leu99=)
c.744A= (p.Leu248=)
7g.99767183A=CA1729179995CYP3A4c.746T= (p.Leu249=)
n.181T=
c.287T= (p.Leu96=)
c.599T= (p.Leu200=)
c.296T= (p.Leu99=)
c.743T= (p.Leu248=)
7g.99767183A>CCA368370266CYP3A4c.746T>G (p.Leu249Ter)
n.181T>G
c.287T>G (p.Leu96Ter)
c.599T>G (p.Leu200Ter)
c.296T>G (p.Leu99Ter)
c.743T>G (p.Leu248Ter)
7g.99767183A>GCA368370267CYP3A4c.746T>C (p.Leu249Ser)
n.181T>C
c.287T>C (p.Leu96Ser)
c.599T>C (p.Leu200Ser)
c.296T>C (p.Leu99Ser)
c.743T>C (p.Leu248Ser)
7g.99767183A>TCA4369651CYP3A4c.746T>A (p.Leu249Ter)
n.181T>A
c.287T>A (p.Leu96Ter)
c.599T>A (p.Leu200Ter)
c.296T>A (p.Leu99Ter)
c.743T>A (p.Leu248Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99767188dupCA4369650CYP3A4c.746dup (p.Leu249PhefsTer29)
n.181dup
c.287dup (p.Leu96PhefsTer29)
c.599dup (p.Leu200PhefsTer29)
c.296dup (p.Leu99PhefsTer29)
c.743dup (p.Leu248PhefsTer29)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99767184A>CCA368370268CYP3A4c.745T>G (p.Leu249Val)
n.180T>G
c.286T>G (p.Leu96Val)
c.598T>G (p.Leu200Val)
c.295T>G (p.Leu99Val)
c.742T>G (p.Leu248Val)
gnomAD v4
7g.99767184A>GCA456689760CYP3A4c.745T>C (p.Leu249=)
n.180T>C
c.286T>C (p.Leu96=)
c.598T>C (p.Leu200=)
c.295T>C (p.Leu99=)
c.742T>C (p.Leu248=)
7g.99767184A>TCA368370269CYP3A4c.745T>A (p.Leu249Ile)
n.180T>A
c.286T>A (p.Leu96Ile)
c.598T>A (p.Leu200Ile)
c.295T>A (p.Leu99Ile)
c.742T>A (p.Leu248Ile)
7g.99767185A>CCA368370270CYP3A4c.744T>G (p.Phe248Leu)
n.179T>G
c.285T>G (p.Phe95Leu)
c.597T>G (p.Phe199Leu)
c.294T>G (p.Phe98Leu)
c.741T>G (p.Phe247Leu)
7g.99767185A>GCA456689764CYP3A4c.744T>C (p.Phe248=)
n.179T>C
c.285T>C (p.Phe95=)
c.597T>C (p.Phe199=)
c.294T>C (p.Phe98=)
c.741T>C (p.Phe247=)
7g.99767185A>TCA368370271CYP3A4c.744T>A (p.Phe248Leu)
n.179T>A
c.285T>A (p.Phe95Leu)
c.597T>A (p.Phe199Leu)
c.294T>A (p.Phe98Leu)
c.741T>A (p.Phe247Leu)
7g.99767186A>CCA368370272CYP3A4c.743T>G (p.Phe248Cys)
n.178T>G
c.284T>G (p.Phe95Cys)
c.596T>G (p.Phe199Cys)
c.293T>G (p.Phe98Cys)
c.740T>G (p.Phe247Cys)
7g.99767186A>GCA368370274CYP3A4c.743T>C (p.Phe248Ser)
n.178T>C
c.284T>C (p.Phe95Ser)
c.596T>C (p.Phe199Ser)
c.293T>C (p.Phe98Ser)
c.740T>C (p.Phe247Ser)
7g.99767186A>TCA368370273CYP3A4c.743T>A (p.Phe248Tyr)
n.178T>A
c.284T>A (p.Phe95Tyr)
c.596T>A (p.Phe199Tyr)
c.293T>A (p.Phe98Tyr)
c.740T>A (p.Phe247Tyr)
7g.99767187A>CCA368370275CYP3A4c.742T>G (p.Phe248Val)
n.177T>G
c.283T>G (p.Phe95Val)
c.595T>G (p.Phe199Val)
c.292T>G (p.Phe98Val)
c.739T>G (p.Phe247Val)
gnomAD v4
7g.99767187A>GCA368370276CYP3A4c.742T>C (p.Phe248Leu)
n.177T>C
c.283T>C (p.Phe95Leu)
c.595T>C (p.Phe199Leu)
c.292T>C (p.Phe98Leu)
c.739T>C (p.Phe247Leu)
7g.99767187A>TCA368370277CYP3A4c.742T>A (p.Phe248Ile)
n.177T>A
c.283T>A (p.Phe95Ile)
c.595T>A (p.Phe199Ile)
c.292T>A (p.Phe98Ile)
c.739T>A (p.Phe247Ile)
7g.99767188A=CA1729179999CYP3A4c.741T= (p.Asn247=)
n.176T=
c.282T= (p.Asn94=)
c.594T= (p.Asn198=)
c.291T= (p.Asn97=)
c.738T= (p.Asn246=)
7g.99767188A>CCA368370278CYP3A4c.741T>G (p.Asn247Lys)
n.176T>G
c.282T>G (p.Asn94Lys)
c.594T>G (p.Asn198Lys)
c.291T>G (p.Asn97Lys)
c.738T>G (p.Asn246Lys)
7g.99767188A>GCA456689771CYP3A4c.741T>C (p.Asn247=)
n.176T>C
c.282T>C (p.Asn94=)
c.594T>C (p.Asn198=)
c.291T>C (p.Asn97=)
c.738T>C (p.Asn246=)
dbSNP gnomAD v2 gnomAD v4
7g.99767188A>TCA368370279CYP3A4c.741T>A (p.Asn247Lys)
n.176T>A
c.282T>A (p.Asn94Lys)
c.594T>A (p.Asn198Lys)
c.291T>A (p.Asn97Lys)
c.738T>A (p.Asn246Lys)
COSMIC
7g.99767189T>ACA368370280CYP3A4c.740A>T (p.Asn247Ile)
n.175A>T
c.281A>T (p.Asn94Ile)
c.593A>T (p.Asn198Ile)
c.290A>T (p.Asn97Ile)
c.737A>T (p.Asn246Ile)
dbSNP gnomAD v2 gnomAD v4
7g.99767189T>CCA368370281CYP3A4c.740A>G (p.Asn247Ser)
n.175A>G
c.281A>G (p.Asn94Ser)
c.593A>G (p.Asn198Ser)
c.290A>G (p.Asn97Ser)
c.737A>G (p.Asn246Ser)

Number of alleles fetched