Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99760799T>CCA2683985396CYP3A4c.1509+20A>G (n.1509+20A>G)
n.851+20A>G
c.1416+20A>G (n.1416+20A>G)
c.957+20A>G (n.957+20A>G)
c.1269+20A>G (n.1269+20A>G)
c.966+20A>G (n.966+20A>G)
c.1413+20A>G (n.1413+20A>G)
c.1506+20A>G (n.1506+20A>G)
gnomAD v4
7g.99760800T>GCA4369471CYP3A4c.1509+19A>C (n.1509+19A>C)
n.851+19A>C
c.1416+19A>C (n.1416+19A>C)
c.957+19A>C (n.957+19A>C)
c.1269+19A>C (n.1269+19A>C)
c.966+19A>C (n.966+19A>C)
c.1413+19A>C (n.1413+19A>C)
c.1506+19A>C (n.1506+19A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760800T=CA1729176719CYP3A4c.1509+19A= (n.1509+19A=)
n.851+19A=
c.1416+19A= (n.1416+19A=)
c.957+19A= (n.957+19A=)
c.1269+19A= (n.1269+19A=)
c.966+19A= (n.966+19A=)
c.1413+19A= (n.1413+19A=)
c.1506+19A= (n.1506+19A=)
7g.99760801T>ACA2715295671CYP3A4c.1509+18A>T (n.1509+18A>T)
n.851+18A>T
c.1416+18A>T (n.1416+18A>T)
c.957+18A>T (n.957+18A>T)
c.1269+18A>T (n.1269+18A>T)
c.966+18A>T (n.966+18A>T)
c.1413+18A>T (n.1413+18A>T)
c.1506+18A>T (n.1506+18A>T)
dbSNP
7g.99760801T>CCA4369472CYP3A4c.1509+18A>G (n.1509+18A>G)
n.851+18A>G
c.1416+18A>G (n.1416+18A>G)
c.957+18A>G (n.957+18A>G)
c.1269+18A>G (n.1269+18A>G)
c.966+18A>G (n.966+18A>G)
c.1413+18A>G (n.1413+18A>G)
c.1506+18A>G (n.1506+18A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760801T=CA1729176720CYP3A4c.1509+18A= (n.1509+18A=)
n.851+18A=
c.1416+18A= (n.1416+18A=)
c.957+18A= (n.957+18A=)
c.1269+18A= (n.1269+18A=)
c.966+18A= (n.966+18A=)
c.1413+18A= (n.1413+18A=)
c.1506+18A= (n.1506+18A=)
7g.99760802A>GCA2715612838CYP3A4c.1509+17T>C (n.1509+17T>C)
n.851+17T>C
c.1416+17T>C (n.1416+17T>C)
c.957+17T>C (n.957+17T>C)
c.1269+17T>C (n.1269+17T>C)
c.966+17T>C (n.966+17T>C)
c.1413+17T>C (n.1413+17T>C)
c.1506+17T>C (n.1506+17T>C)
dbSNP
7g.99760803T>CCA4369473CYP3A4c.1509+16A>G (n.1509+16A>G)
n.851+16A>G
c.1416+16A>G (n.1416+16A>G)
c.957+16A>G (n.957+16A>G)
c.1269+16A>G (n.1269+16A>G)
c.966+16A>G (n.966+16A>G)
c.1413+16A>G (n.1413+16A>G)
c.1506+16A>G (n.1506+16A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760803T>GCA163151070CYP3A4c.1509+16A>C (n.1509+16A>C)
n.851+16A>C
c.1416+16A>C (n.1416+16A>C)
c.957+16A>C (n.957+16A>C)
c.1269+16A>C (n.1269+16A>C)
c.966+16A>C (n.966+16A>C)
c.1413+16A>C (n.1413+16A>C)
c.1506+16A>C (n.1506+16A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760803T=CA1729176721CYP3A4c.1509+16A= (n.1509+16A=)
n.851+16A=
c.1416+16A= (n.1416+16A=)
c.957+16A= (n.957+16A=)
c.1269+16A= (n.1269+16A=)
c.966+16A= (n.966+16A=)
c.1413+16A= (n.1413+16A=)
c.1506+16A= (n.1506+16A=)
7g.99760804A=CA1729176722CYP3A4c.1509+15T= (n.1509+15T=)
n.851+15T=
c.1416+15T= (n.1416+15T=)
c.957+15T= (n.957+15T=)
c.1269+15T= (n.1269+15T=)
c.966+15T= (n.966+15T=)
c.1413+15T= (n.1413+15T=)
c.1506+15T= (n.1506+15T=)
7g.99760804A>GCA1104975799CYP3A4c.1509+15T>C (n.1509+15T>C)
n.851+15T>C
c.1416+15T>C (n.1416+15T>C)
c.957+15T>C (n.957+15T>C)
c.1269+15T>C (n.1269+15T>C)
c.966+15T>C (n.966+15T>C)
c.1413+15T>C (n.1413+15T>C)
c.1506+15T>C (n.1506+15T>C)
dbSNP gnomAD v3 gnomAD v4
7g.99760806A=CA1729176723CYP3A4c.1509+13T= (n.1509+13T=)
n.851+13T=
c.1416+13T= (n.1416+13T=)
c.957+13T= (n.957+13T=)
c.1269+13T= (n.1269+13T=)
c.966+13T= (n.966+13T=)
c.1413+13T= (n.1413+13T=)
c.1506+13T= (n.1506+13T=)
7g.99760806A>GCA4369474CYP3A4c.1509+13T>C (n.1509+13T>C)
n.851+13T>C
c.1416+13T>C (n.1416+13T>C)
c.957+13T>C (n.957+13T>C)
c.1269+13T>C (n.1269+13T>C)
c.966+13T>C (n.966+13T>C)
c.1413+13T>C (n.1413+13T>C)
c.1506+13T>C (n.1506+13T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760807A>GCA2715612852CYP3A4c.1509+12T>C (n.1509+12T>C)
n.851+12T>C
c.1416+12T>C (n.1416+12T>C)
c.957+12T>C (n.957+12T>C)
c.1269+12T>C (n.1269+12T>C)
c.966+12T>C (n.966+12T>C)
c.1413+12T>C (n.1413+12T>C)
c.1506+12T>C (n.1506+12T>C)
dbSNP
7g.99760808A>GCA2777129122CYP3A4c.1509+11T>C (n.1509+11T>C)
n.851+11T>C
c.1416+11T>C (n.1416+11T>C)
c.957+11T>C (n.957+11T>C)
c.1269+11T>C (n.1269+11T>C)
c.966+11T>C (n.966+11T>C)
c.1413+11T>C (n.1413+11T>C)
c.1506+11T>C (n.1506+11T>C)
7g.99760809A=CA1729176724CYP3A4c.1509+10T= (n.1509+10T=)
n.851+10T=
c.1416+10T= (n.1416+10T=)
c.957+10T= (n.957+10T=)
c.1269+10T= (n.1269+10T=)
c.966+10T= (n.966+10T=)
c.1413+10T= (n.1413+10T=)
c.1506+10T= (n.1506+10T=)
7g.99760809A>GCA4369475CYP3A4c.1509+10T>C (n.1509+10T>C)
n.851+10T>C
c.1416+10T>C (n.1416+10T>C)
c.957+10T>C (n.957+10T>C)
c.1269+10T>C (n.1269+10T>C)
c.966+10T>C (n.966+10T>C)
c.1413+10T>C (n.1413+10T>C)
c.1506+10T>C (n.1506+10T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760810T>CCA4369476CYP3A4c.1509+9A>G (n.1509+9A>G)
n.851+9A>G
c.1416+9A>G (n.1416+9A>G)
c.957+9A>G (n.957+9A>G)
c.1269+9A>G (n.1269+9A>G)
c.966+9A>G (n.966+9A>G)
c.1413+9A>G (n.1413+9A>G)
c.1506+9A>G (n.1506+9A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760810T>GCA1729176726CYP3A4c.1509+9A>C (n.1509+9A>C)
n.851+9A>C
c.1416+9A>C (n.1416+9A>C)
c.957+9A>C (n.957+9A>C)
c.1269+9A>C (n.1269+9A>C)
c.966+9A>C (n.966+9A>C)
c.1413+9A>C (n.1413+9A>C)
c.1506+9A>C (n.1506+9A>C)
dbSNP gnomAD v4
7g.99760810T=CA1729176725CYP3A4c.1509+9A= (n.1509+9A=)
n.851+9A=
c.1416+9A= (n.1416+9A=)
c.957+9A= (n.957+9A=)
c.1269+9A= (n.1269+9A=)
c.966+9A= (n.966+9A=)
c.1413+9A= (n.1413+9A=)
c.1506+9A= (n.1506+9A=)
7g.99760812G>ACA2683985397CYP3A4c.1509+7C>T (n.1509+7C>T)
n.851+7C>T
c.1416+7C>T (n.1416+7C>T)
c.957+7C>T (n.957+7C>T)
c.1269+7C>T (n.1269+7C>T)
c.966+7C>T (n.966+7C>T)
c.1413+7C>T (n.1413+7C>T)
c.1506+7C>T (n.1506+7C>T)
gnomAD v4
7g.99760814C=CA1729176727CYP3A4c.1509+5G= (n.1509+5G=)
n.851+5G=
c.1416+5G= (n.1416+5G=)
c.957+5G= (n.957+5G=)
c.1269+5G= (n.1269+5G=)
c.966+5G= (n.966+5G=)
c.1413+5G= (n.1413+5G=)
c.1506+5G= (n.1506+5G=)
7g.99760814C>TCA4369477CYP3A4c.1509+5G>A (n.1509+5G>A)
n.851+5G>A
c.1416+5G>A (n.1416+5G>A)
c.957+5G>A (n.957+5G>A)
c.1269+5G>A (n.1269+5G>A)
c.966+5G>A (n.966+5G>A)
c.1413+5G>A (n.1413+5G>A)
c.1506+5G>A (n.1506+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760815T>CCA4369478CYP3A4c.1509+4A>G (n.1509+4A>G)
n.851+4A>G
c.1416+4A>G (n.1416+4A>G)
c.957+4A>G (n.957+4A>G)
c.1269+4A>G (n.1269+4A>G)
c.966+4A>G (n.966+4A>G)
c.1413+4A>G (n.1413+4A>G)
c.1506+4A>G (n.1506+4A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760815T=CA1729176728CYP3A4c.1509+4A= (n.1509+4A=)
n.851+4A=
c.1416+4A= (n.1416+4A=)
c.957+4A= (n.957+4A=)
c.1269+4A= (n.1269+4A=)
c.966+4A= (n.966+4A=)
c.1413+4A= (n.1413+4A=)
c.1506+4A= (n.1506+4A=)
7g.99760816A>GCA2683985398CYP3A4c.1509+3T>C (n.1509+3T>C)
n.851+3T>C
c.1416+3T>C (n.1416+3T>C)
c.957+3T>C (n.957+3T>C)
c.1269+3T>C (n.1269+3T>C)
c.966+3T>C (n.966+3T>C)
c.1413+3T>C (n.1413+3T>C)
c.1506+3T>C (n.1506+3T>C)
gnomAD v4
7g.99760817A>CCA368367492CYP3A4c.1509+2T>G (n.1509+2T>G)
n.851+2T>G
c.1416+2T>G (n.1416+2T>G)
c.957+2T>G (n.957+2T>G)
c.1269+2T>G (n.1269+2T>G)
c.966+2T>G (n.966+2T>G)
c.1413+2T>G (n.1413+2T>G)
c.1506+2T>G (n.1506+2T>G)
gnomAD v4
7g.99760817A>GCA368367494CYP3A4c.1509+2T>C (n.1509+2T>C)
n.851+2T>C
c.1416+2T>C (n.1416+2T>C)
c.957+2T>C (n.957+2T>C)
c.1269+2T>C (n.1269+2T>C)
c.966+2T>C (n.966+2T>C)
c.1413+2T>C (n.1413+2T>C)
c.1506+2T>C (n.1506+2T>C)
7g.99760817A>TCA368367496CYP3A4c.1509+2T>A (n.1509+2T>A)
n.851+2T>A
c.1416+2T>A (n.1416+2T>A)
c.957+2T>A (n.957+2T>A)
c.1269+2T>A (n.1269+2T>A)
c.966+2T>A (n.966+2T>A)
c.1413+2T>A (n.1413+2T>A)
c.1506+2T>A (n.1506+2T>A)
7g.99760818C>ACA368367502CYP3A4c.1509+1G>T (n.1509+1G>T)
n.851+1G>T
c.1416+1G>T (n.1416+1G>T)
c.957+1G>T (n.957+1G>T)
c.1269+1G>T (n.1269+1G>T)
c.966+1G>T (n.966+1G>T)
c.1413+1G>T (n.1413+1G>T)
c.1506+1G>T (n.1506+1G>T)
7g.99760818C>GCA368367498CYP3A4c.1509+1G>C (n.1509+1G>C)
n.851+1G>C
c.1416+1G>C (n.1416+1G>C)
c.957+1G>C (n.957+1G>C)
c.1269+1G>C (n.1269+1G>C)
c.966+1G>C (n.966+1G>C)
c.1413+1G>C (n.1413+1G>C)
c.1506+1G>C (n.1506+1G>C)
7g.99760818C>TCA368367500CYP3A4c.1509+1G>A (n.1509+1G>A)
n.851+1G>A
c.1416+1G>A (n.1416+1G>A)
c.957+1G>A (n.957+1G>A)
c.1269+1G>A (n.1269+1G>A)
c.966+1G>A (n.966+1G>A)
c.1413+1G>A (n.1413+1G>A)
c.1506+1G>A (n.1506+1G>A)
dbSNP
7g.99760819C>ACA368367503CYP3A4c.1509G>T (p.Gln503His)
n.851G>T
c.1416G>T (p.Gln472His)
c.957G>T (p.Gln319His)
c.1269G>T (p.Gln423His)
c.966G>T (p.Gln322His)
c.1413G>T (p.Gln471His)
c.1506G>T (p.Gln502His)
7g.99760819C=CA1729176729CYP3A4c.1509G= (p.Gln503=)
n.851G=
c.1416G= (p.Gln472=)
c.957G= (p.Gln319=)
c.1269G= (p.Gln423=)
c.966G= (p.Gln322=)
c.1413G= (p.Gln471=)
c.1506G= (p.Gln502=)
7g.99760819C>GCA368367505CYP3A4c.1509G>C (p.Gln503His)
n.851G>C
c.1416G>C (p.Gln472His)
c.957G>C (p.Gln319His)
c.1269G>C (p.Gln423His)
c.966G>C (p.Gln322His)
c.1413G>C (p.Gln471His)
c.1506G>C (p.Gln502His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760819C>TCA456686415CYP3A4c.1509G>A (p.Gln503=)
n.851G>A
c.1416G>A (p.Gln472=)
c.957G>A (p.Gln319=)
c.1269G>A (p.Gln423=)
c.966G>A (p.Gln322=)
c.1413G>A (p.Gln471=)
c.1506G>A (p.Gln502=)
7g.99760820T>ACA368367508CYP3A4c.1508A>T (p.Gln503Leu)
n.850A>T
c.1415A>T (p.Gln472Leu)
c.956A>T (p.Gln319Leu)
c.1268A>T (p.Gln423Leu)
c.965A>T (p.Gln322Leu)
c.1412A>T (p.Gln471Leu)
c.1505A>T (p.Gln502Leu)
gnomAD v4
7g.99760820T>CCA4369479CYP3A4c.1508A>G (p.Gln503Arg)
n.850A>G
c.1415A>G (p.Gln472Arg)
c.956A>G (p.Gln319Arg)
c.1268A>G (p.Gln423Arg)
c.965A>G (p.Gln322Arg)
c.1412A>G (p.Gln471Arg)
c.1505A>G (p.Gln502Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760820T>GCA368367510CYP3A4c.1508A>C (p.Gln503Pro)
n.850A>C
c.1415A>C (p.Gln472Pro)
c.956A>C (p.Gln319Pro)
c.1268A>C (p.Gln423Pro)
c.965A>C (p.Gln322Pro)
c.1412A>C (p.Gln471Pro)
c.1505A>C (p.Gln502Pro)
7g.99760820T=CA1729176730CYP3A4c.1508A= (p.Gln503=)
n.850A=
c.1415A= (p.Gln472=)
c.956A= (p.Gln319=)
c.1268A= (p.Gln423=)
c.965A= (p.Gln322=)
c.1412A= (p.Gln471=)
c.1505A= (p.Gln502=)
7g.99760821G>ACA4369480CYP3A4c.1507C>T (p.Gln503Ter)
n.849C>T
c.1414C>T (p.Gln472Ter)
c.955C>T (p.Gln319Ter)
c.1267C>T (p.Gln423Ter)
c.964C>T (p.Gln322Ter)
c.1411C>T (p.Gln471Ter)
c.1504C>T (p.Gln502Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760821G>CCA368367512CYP3A4c.1507C>G (p.Gln503Glu)
n.849C>G
c.1414C>G (p.Gln472Glu)
c.955C>G (p.Gln319Glu)
c.1267C>G (p.Gln423Glu)
c.964C>G (p.Gln322Glu)
c.1411C>G (p.Gln471Glu)
c.1504C>G (p.Gln502Glu)
7g.99760821G=CA1729176731CYP3A4c.1507C= (p.Gln503=)
n.849C=
c.1414C= (p.Gln472=)
c.955C= (p.Gln319=)
c.1267C= (p.Gln423=)
c.964C= (p.Gln322=)
c.1411C= (p.Gln471=)
c.1504C= (p.Gln502=)
7g.99760821G>TCA368367513CYP3A4c.1507C>A (p.Gln503Lys)
n.849C>A
c.1414C>A (p.Gln472Lys)
c.955C>A (p.Gln319Lys)
c.1267C>A (p.Gln423Lys)
c.964C>A (p.Gln322Lys)
c.1411C>A (p.Gln471Lys)
c.1504C>A (p.Gln502Lys)
7g.99760822T>ACA456686416CYP3A4c.1506A>T (p.Thr502=)
n.848A>T
c.1413A>T (p.Thr471=)
c.954A>T (p.Thr318=)
c.1266A>T (p.Thr422=)
c.963A>T (p.Thr321=)
c.1410A>T (p.Thr470=)
c.1503A>T (p.Thr501=)
7g.99760822T>CCA456686417CYP3A4c.1506A>G (p.Thr502=)
n.848A>G
c.1413A>G (p.Thr471=)
c.954A>G (p.Thr318=)
c.1266A>G (p.Thr422=)
c.963A>G (p.Thr321=)
c.1410A>G (p.Thr470=)
c.1503A>G (p.Thr501=)
7g.99760822T>GCA456686418CYP3A4c.1506A>C (p.Thr502=)
n.848A>C
c.1413A>C (p.Thr471=)
c.954A>C (p.Thr318=)
c.1266A>C (p.Thr422=)
c.963A>C (p.Thr321=)
c.1410A>C (p.Thr470=)
c.1503A>C (p.Thr501=)
7g.99760823G>ACA368367516CYP3A4c.1505C>T (p.Thr502Ile)
n.847C>T
c.1412C>T (p.Thr471Ile)
c.953C>T (p.Thr318Ile)
c.1265C>T (p.Thr422Ile)
c.962C>T (p.Thr321Ile)
c.1409C>T (p.Thr470Ile)
c.1502C>T (p.Thr501Ile)
7g.99760823G>CCA368367518CYP3A4c.1505C>G (p.Thr502Arg)
n.847C>G
c.1412C>G (p.Thr471Arg)
c.953C>G (p.Thr318Arg)
c.1265C>G (p.Thr422Arg)
c.962C>G (p.Thr321Arg)
c.1409C>G (p.Thr470Arg)
c.1502C>G (p.Thr501Arg)
7g.99760823G>TCA368367519CYP3A4c.1505C>A (p.Thr502Lys)
n.847C>A
c.1412C>A (p.Thr471Lys)
c.953C>A (p.Thr318Lys)
c.1265C>A (p.Thr422Lys)
c.962C>A (p.Thr321Lys)
c.1409C>A (p.Thr470Lys)
c.1502C>A (p.Thr501Lys)
7g.99760823_99760827delinsGTTTCCA1729176732CYP3A4c.1501_1505delinsGAAAC (p.Glu501=)
n.843_847delinsGAAAC
c.1408_1412delinsGAAAC (p.Glu470=)
c.949_953delinsGAAAC (p.Glu317=)
c.1261_1265delinsGAAAC (p.Glu421=)
c.958_962delinsGAAAC (p.Glu320=)
c.1405_1409delinsGAAAC (p.Glu469=)
c.1498_1502delinsGAAAC (p.Glu500=)
7g.99760824T>ACA368367525CYP3A4c.1504A>T (p.Thr502Ser)
n.846A>T
c.1411A>T (p.Thr471Ser)
c.952A>T (p.Thr318Ser)
c.1264A>T (p.Thr422Ser)
c.961A>T (p.Thr321Ser)
c.1408A>T (p.Thr470Ser)
c.1501A>T (p.Thr501Ser)
7g.99760824T>CCA368367523CYP3A4c.1504A>G (p.Thr502Ala)
n.846A>G
c.1411A>G (p.Thr471Ala)
c.952A>G (p.Thr318Ala)
c.1264A>G (p.Thr422Ala)
c.961A>G (p.Thr321Ala)
c.1408A>G (p.Thr470Ala)
c.1501A>G (p.Thr501Ala)
7g.99760824T>GCA368367521CYP3A4c.1504A>C (p.Thr502Pro)
n.846A>C
c.1411A>C (p.Thr471Pro)
c.952A>C (p.Thr318Pro)
c.1264A>C (p.Thr422Pro)
c.961A>C (p.Thr321Pro)
c.1408A>C (p.Thr470Pro)
c.1501A>C (p.Thr501Pro)
7g.99760827_99760830delCA576400238CYP3A4c.1501_1504del (p.Glu501HisfsTer5)
n.843_846del
c.1408_1411del (p.Glu470HisfsTer5)
c.949_952del (p.Glu317HisfsTer5)
c.1261_1264del (p.Glu421HisfsTer5)
c.958_961del (p.Glu320HisfsTer5)
c.1405_1408del (p.Glu469HisfsTer5)
c.1498_1501del (p.Glu500HisfsTer5)
dbSNP gnomAD v2
7g.99760825T>ACA368367526CYP3A4c.1503A>T (p.Glu501Asp)
n.845A>T
c.1410A>T (p.Glu470Asp)
c.951A>T (p.Glu317Asp)
c.1263A>T (p.Glu421Asp)
c.960A>T (p.Glu320Asp)
c.1407A>T (p.Glu469Asp)
c.1500A>T (p.Glu500Asp)
7g.99760825T>CCA456686420CYP3A4c.1503A>G (p.Glu501=)
n.845A>G
c.1410A>G (p.Glu470=)
c.951A>G (p.Glu317=)
c.1263A>G (p.Glu421=)
c.960A>G (p.Glu320=)
c.1407A>G (p.Glu469=)
c.1500A>G (p.Glu500=)
7g.99760825T>GCA368367528CYP3A4c.1503A>C (p.Glu501Asp)
n.845A>C
c.1410A>C (p.Glu470Asp)
c.951A>C (p.Glu317Asp)
c.1263A>C (p.Glu421Asp)
c.960A>C (p.Glu320Asp)
c.1407A>C (p.Glu469Asp)
c.1500A>C (p.Glu500Asp)
7g.99760826T>ACA368367530CYP3A4c.1502A>T (p.Glu501Val)
n.844A>T
c.1409A>T (p.Glu470Val)
c.950A>T (p.Glu317Val)
c.1262A>T (p.Glu421Val)
c.959A>T (p.Glu320Val)
c.1406A>T (p.Glu469Val)
c.1499A>T (p.Glu500Val)
7g.99760826T>CCA368367532CYP3A4c.1502A>G (p.Glu501Gly)
n.844A>G
c.1409A>G (p.Glu470Gly)
c.950A>G (p.Glu317Gly)
c.1262A>G (p.Glu421Gly)
c.959A>G (p.Glu320Gly)
c.1406A>G (p.Glu469Gly)
c.1499A>G (p.Glu500Gly)
7g.99760826T>GCA368367533CYP3A4c.1502A>C (p.Glu501Ala)
n.844A>C
c.1409A>C (p.Glu470Ala)
c.950A>C (p.Glu317Ala)
c.1262A>C (p.Glu421Ala)
c.959A>C (p.Glu320Ala)
c.1406A>C (p.Glu469Ala)
c.1499A>C (p.Glu500Ala)
7g.99760827C>ACA368367535CYP3A4c.1501G>T (p.Glu501Ter)
n.843G>T
c.1408G>T (p.Glu470Ter)
c.949G>T (p.Glu317Ter)
c.1261G>T (p.Glu421Ter)
c.958G>T (p.Glu320Ter)
c.1405G>T (p.Glu469Ter)
c.1498G>T (p.Glu500Ter)
7g.99760827C=CA1729176733CYP3A4c.1501G= (p.Glu501=)
n.843G=
c.1408G= (p.Glu470=)
c.949G= (p.Glu317=)
c.1261G= (p.Glu421=)
c.958G= (p.Glu320=)
c.1405G= (p.Glu469=)
c.1498G= (p.Glu500=)
7g.99760827C>GCA368367537CYP3A4c.1501G>C (p.Glu501Gln)
n.843G>C
c.1408G>C (p.Glu470Gln)
c.949G>C (p.Glu317Gln)
c.1261G>C (p.Glu421Gln)
c.958G>C (p.Glu320Gln)
c.1405G>C (p.Glu469Gln)
c.1498G>C (p.Glu500Gln)
gnomAD v4
7g.99760827C>TCA163151091CYP3A4c.1501G>A (p.Glu501Lys)
n.843G>A
c.1408G>A (p.Glu470Lys)
c.949G>A (p.Glu317Lys)
c.1261G>A (p.Glu421Lys)
c.958G>A (p.Glu320Lys)
c.1405G>A (p.Glu469Lys)
c.1498G>A (p.Glu500Lys)
dbSNP gnomAD v3 gnomAD v4
7g.99760828T>ACA368367539CYP3A4c.1500A>T (p.Lys500Asn)
n.842A>T
c.1407A>T (p.Lys469Asn)
c.948A>T (p.Lys316Asn)
c.1260A>T (p.Lys420Asn)
c.957A>T (p.Lys319Asn)
c.1404A>T (p.Lys468Asn)
c.1497A>T (p.Lys499Asn)
7g.99760828T>CCA456686422CYP3A4c.1500A>G (p.Lys500=)
n.842A>G
c.1407A>G (p.Lys469=)
c.948A>G (p.Lys316=)
c.1260A>G (p.Lys420=)
c.957A>G (p.Lys319=)
c.1404A>G (p.Lys468=)
c.1497A>G (p.Lys499=)
7g.99760828T>GCA368367541CYP3A4c.1500A>C (p.Lys500Asn)
n.842A>C
c.1407A>C (p.Lys469Asn)
c.948A>C (p.Lys316Asn)
c.1260A>C (p.Lys420Asn)
c.957A>C (p.Lys319Asn)
c.1404A>C (p.Lys468Asn)
c.1497A>C (p.Lys499Asn)
7g.99760829T>ACA368367543CYP3A4c.1499A>T (p.Lys500Ile)
n.841A>T
c.1406A>T (p.Lys469Ile)
c.947A>T (p.Lys316Ile)
c.1259A>T (p.Lys420Ile)
c.956A>T (p.Lys319Ile)
c.1403A>T (p.Lys468Ile)
c.1496A>T (p.Lys499Ile)
7g.99760829T>CCA368367544CYP3A4c.1499A>G (p.Lys500Arg)
n.841A>G
c.1406A>G (p.Lys469Arg)
c.947A>G (p.Lys316Arg)
c.1259A>G (p.Lys420Arg)
c.956A>G (p.Lys319Arg)
c.1403A>G (p.Lys468Arg)
c.1496A>G (p.Lys499Arg)
7g.99760829T>GCA368367545CYP3A4c.1499A>C (p.Lys500Thr)
n.841A>C
c.1406A>C (p.Lys469Thr)
c.947A>C (p.Lys316Thr)
c.1259A>C (p.Lys420Thr)
c.956A>C (p.Lys319Thr)
c.1403A>C (p.Lys468Thr)
c.1496A>C (p.Lys499Thr)
7g.99760830T>ACA368367547CYP3A4c.1498A>T (p.Lys500Ter)
n.840A>T
c.1405A>T (p.Lys469Ter)
c.946A>T (p.Lys316Ter)
c.1258A>T (p.Lys420Ter)
c.955A>T (p.Lys319Ter)
c.1402A>T (p.Lys468Ter)
c.1495A>T (p.Lys499Ter)
7g.99760830T>CCA368367549CYP3A4c.1498A>G (p.Lys500Glu)
n.840A>G
c.1405A>G (p.Lys469Glu)
c.946A>G (p.Lys316Glu)
c.1258A>G (p.Lys420Glu)
c.955A>G (p.Lys319Glu)
c.1402A>G (p.Lys468Glu)
c.1495A>G (p.Lys499Glu)
7g.99760830T>GCA368367551CYP3A4c.1498A>C (p.Lys500Gln)
n.840A>C
c.1405A>C (p.Lys469Gln)
c.946A>C (p.Lys316Gln)
c.1258A>C (p.Lys420Gln)
c.955A>C (p.Lys319Gln)
c.1402A>C (p.Lys468Gln)
c.1495A>C (p.Lys499Gln)
7g.99760831A=CA1729176734CYP3A4c.1497T= (p.Cys499=)
n.839T=
c.1404T= (p.Cys468=)
c.945T= (p.Cys315=)
c.1257T= (p.Cys419=)
c.954T= (p.Cys318=)
c.1401T= (p.Cys467=)
c.1494T= (p.Cys498=)
7g.99760831A>CCA368367552CYP3A4c.1497T>G (p.Cys499Trp)
n.839T>G
c.1404T>G (p.Cys468Trp)
c.945T>G (p.Cys315Trp)
c.1257T>G (p.Cys419Trp)
c.954T>G (p.Cys318Trp)
c.1401T>G (p.Cys467Trp)
c.1494T>G (p.Cys498Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760831A>GCA456686426CYP3A4c.1497T>C (p.Cys499=)
n.839T>C
c.1404T>C (p.Cys468=)
c.945T>C (p.Cys315=)
c.1257T>C (p.Cys419=)
c.954T>C (p.Cys318=)
c.1401T>C (p.Cys467=)
c.1494T>C (p.Cys498=)
7g.99760831A>TCA368367553CYP3A4c.1497T>A (p.Cys499Ter)
n.839T>A
c.1404T>A (p.Cys468Ter)
c.945T>A (p.Cys315Ter)
c.1257T>A (p.Cys419Ter)
c.954T>A (p.Cys318Ter)
c.1401T>A (p.Cys467Ter)
c.1494T>A (p.Cys498Ter)
7g.99760832C>ACA368367555CYP3A4c.1496G>T (p.Cys499Phe)
n.838G>T
c.1403G>T (p.Cys468Phe)
c.944G>T (p.Cys315Phe)
c.1256G>T (p.Cys419Phe)
c.953G>T (p.Cys318Phe)
c.1400G>T (p.Cys467Phe)
c.1493G>T (p.Cys498Phe)
7g.99760832C=CA1729176735CYP3A4c.1496G= (p.Cys499=)
n.838G=
c.1403G= (p.Cys468=)
c.944G= (p.Cys315=)
c.1256G= (p.Cys419=)
c.953G= (p.Cys318=)
c.1400G= (p.Cys467=)
c.1493G= (p.Cys498=)
7g.99760832C>GCA368367557CYP3A4c.1496G>C (p.Cys499Ser)
n.838G>C
c.1403G>C (p.Cys468Ser)
c.944G>C (p.Cys315Ser)
c.1256G>C (p.Cys419Ser)
c.953G>C (p.Cys318Ser)
c.1400G>C (p.Cys467Ser)
c.1493G>C (p.Cys498Ser)
7g.99760832C>TCA368367558CYP3A4c.1496G>A (p.Cys499Tyr)
n.838G>A
c.1403G>A (p.Cys468Tyr)
c.944G>A (p.Cys315Tyr)
c.1256G>A (p.Cys419Tyr)
c.953G>A (p.Cys318Tyr)
c.1400G>A (p.Cys467Tyr)
c.1493G>A (p.Cys498Tyr)
dbSNP gnomAD v3 gnomAD v4
7g.99760833A=CA1729176736CYP3A4c.1495T= (p.Cys499=)
n.837T=
c.1402T= (p.Cys468=)
c.943T= (p.Cys315=)
c.1255T= (p.Cys419=)
c.952T= (p.Cys318=)
c.1399T= (p.Cys467=)
c.1492T= (p.Cys498=)
7g.99760833A>CCA368367560CYP3A4c.1495T>G (p.Cys499Gly)
n.837T>G
c.1402T>G (p.Cys468Gly)
c.943T>G (p.Cys315Gly)
c.1255T>G (p.Cys419Gly)
c.952T>G (p.Cys318Gly)
c.1399T>G (p.Cys467Gly)
c.1492T>G (p.Cys498Gly)
7g.99760833A>GCA368367564CYP3A4c.1495T>C (p.Cys499Arg)
n.837T>C
c.1402T>C (p.Cys468Arg)
c.943T>C (p.Cys315Arg)
c.1255T>C (p.Cys419Arg)
c.952T>C (p.Cys318Arg)
c.1399T>C (p.Cys467Arg)
c.1492T>C (p.Cys498Arg)
dbSNP
7g.99760833A>TCA368367567CYP3A4c.1495T>A (p.Cys499Ser)
n.837T>A
c.1402T>A (p.Cys468Ser)
c.943T>A (p.Cys315Ser)
c.1255T>A (p.Cys419Ser)
c.952T>A (p.Cys318Ser)
c.1399T>A (p.Cys467Ser)
c.1492T>A (p.Cys498Ser)
7g.99760834A>CCA456686430CYP3A4c.1494T>G (p.Pro498=)
n.836T>G
c.1401T>G (p.Pro467=)
c.942T>G (p.Pro314=)
c.1254T>G (p.Pro418=)
c.951T>G (p.Pro317=)
c.1398T>G (p.Pro466=)
c.1491T>G (p.Pro497=)
COSMIC
7g.99760834A>GCA456686429CYP3A4c.1494T>C (p.Pro498=)
n.836T>C
c.1401T>C (p.Pro467=)
c.942T>C (p.Pro314=)
c.1254T>C (p.Pro418=)
c.951T>C (p.Pro317=)
c.1398T>C (p.Pro466=)
c.1491T>C (p.Pro497=)
7g.99760834A>TCA456686428CYP3A4c.1494T>A (p.Pro498=)
n.836T>A
c.1401T>A (p.Pro467=)
c.942T>A (p.Pro314=)
c.1254T>A (p.Pro418=)
c.951T>A (p.Pro317=)
c.1398T>A (p.Pro466=)
c.1491T>A (p.Pro497=)
7g.99760835G>ACA368367569CYP3A4c.1493C>T (p.Pro498Leu)
n.835C>T
c.1400C>T (p.Pro467Leu)
c.941C>T (p.Pro314Leu)
c.1253C>T (p.Pro418Leu)
c.950C>T (p.Pro317Leu)
c.1397C>T (p.Pro466Leu)
c.1490C>T (p.Pro497Leu)
gnomAD v4
7g.99760835G>CCA368367571CYP3A4c.1493C>G (p.Pro498Arg)
n.835C>G
c.1400C>G (p.Pro467Arg)
c.941C>G (p.Pro314Arg)
c.1253C>G (p.Pro418Arg)
c.950C>G (p.Pro317Arg)
c.1397C>G (p.Pro466Arg)
c.1490C>G (p.Pro497Arg)
7g.99760835G>TCA368367572CYP3A4c.1493C>A (p.Pro498His)
n.835C>A
c.1400C>A (p.Pro467His)
c.941C>A (p.Pro314His)
c.1253C>A (p.Pro418His)
c.950C>A (p.Pro317His)
c.1397C>A (p.Pro466His)
c.1490C>A (p.Pro497His)
7g.99760836G>ACA4369481CYP3A4c.1492C>T (p.Pro498Ser)
n.834C>T
c.1399C>T (p.Pro467Ser)
c.940C>T (p.Pro314Ser)
c.1252C>T (p.Pro418Ser)
c.949C>T (p.Pro317Ser)
c.1396C>T (p.Pro466Ser)
c.1489C>T (p.Pro497Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760836G>CCA368367575CYP3A4c.1492C>G (p.Pro498Ala)
n.834C>G
c.1399C>G (p.Pro467Ala)
c.940C>G (p.Pro314Ala)
c.1252C>G (p.Pro418Ala)
c.949C>G (p.Pro317Ala)
c.1396C>G (p.Pro466Ala)
c.1489C>G (p.Pro497Ala)
dbSNP gnomAD v2
7g.99760836G=CA1729176737CYP3A4c.1492C= (p.Pro498=)
n.834C=
c.1399C= (p.Pro467=)
c.940C= (p.Pro314=)
c.1252C= (p.Pro418=)
c.949C= (p.Pro317=)
c.1396C= (p.Pro466=)
c.1489C= (p.Pro497=)
7g.99760836G>TCA368367577CYP3A4c.1492C>A (p.Pro498Thr)
n.834C>A
c.1399C>A (p.Pro467Thr)
c.940C>A (p.Pro314Thr)
c.1252C>A (p.Pro418Thr)
c.949C>A (p.Pro317Thr)
c.1396C>A (p.Pro466Thr)
c.1489C>A (p.Pro497Thr)
7g.99760837T>ACA368367578CYP3A4c.1491A>T (p.Lys497Asn)
n.833A>T
c.1398A>T (p.Lys466Asn)
c.939A>T (p.Lys313Asn)
c.1251A>T (p.Lys417Asn)
c.948A>T (p.Lys316Asn)
c.1395A>T (p.Lys465Asn)
c.1488A>T (p.Lys496Asn)
7g.99760837T>CCA456686435CYP3A4c.1491A>G (p.Lys497=)
n.833A>G
c.1398A>G (p.Lys466=)
c.939A>G (p.Lys313=)
c.1251A>G (p.Lys417=)
c.948A>G (p.Lys316=)
c.1395A>G (p.Lys465=)
c.1488A>G (p.Lys496=)
7g.99760837T>GCA368367580CYP3A4c.1491A>C (p.Lys497Asn)
n.833A>C
c.1398A>C (p.Lys466Asn)
c.939A>C (p.Lys313Asn)
c.1251A>C (p.Lys417Asn)
c.948A>C (p.Lys316Asn)
c.1395A>C (p.Lys465Asn)
c.1488A>C (p.Lys496Asn)
7g.99760838T>ACA368367581CYP3A4c.1490A>T (p.Lys497Ile)
n.832A>T
c.1397A>T (p.Lys466Ile)
c.938A>T (p.Lys313Ile)
c.1250A>T (p.Lys417Ile)
c.947A>T (p.Lys316Ile)
c.1394A>T (p.Lys465Ile)
c.1487A>T (p.Lys496Ile)
7g.99760838T>CCA368367583CYP3A4c.1490A>G (p.Lys497Arg)
n.832A>G
c.1397A>G (p.Lys466Arg)
c.938A>G (p.Lys313Arg)
c.1250A>G (p.Lys417Arg)
c.947A>G (p.Lys316Arg)
c.1394A>G (p.Lys465Arg)
c.1487A>G (p.Lys496Arg)
dbSNP
7g.99760838T>GCA368367585CYP3A4c.1490A>C (p.Lys497Thr)
n.832A>C
c.1397A>C (p.Lys466Thr)
c.938A>C (p.Lys313Thr)
c.1250A>C (p.Lys417Thr)
c.947A>C (p.Lys316Thr)
c.1394A>C (p.Lys465Thr)
c.1487A>C (p.Lys496Thr)
7g.99760838T=CA1729176738CYP3A4c.1490A= (p.Lys497=)
n.832A=
c.1397A= (p.Lys466=)
c.938A= (p.Lys313=)
c.1250A= (p.Lys417=)
c.947A= (p.Lys316=)
c.1394A= (p.Lys465=)
c.1487A= (p.Lys496=)
7g.99760839T>ACA368367586CYP3A4c.1489A>T (p.Lys497Ter)
n.831A>T
c.1396A>T (p.Lys466Ter)
c.937A>T (p.Lys313Ter)
c.1249A>T (p.Lys417Ter)
c.946A>T (p.Lys316Ter)
c.1393A>T (p.Lys465Ter)
c.1486A>T (p.Lys496Ter)
7g.99760839T>CCA368367588CYP3A4c.1489A>G (p.Lys497Glu)
n.831A>G
c.1396A>G (p.Lys466Glu)
c.937A>G (p.Lys313Glu)
c.1249A>G (p.Lys417Glu)
c.946A>G (p.Lys316Glu)
c.1393A>G (p.Lys465Glu)
c.1486A>G (p.Lys496Glu)
7g.99760839T>GCA368367590CYP3A4c.1489A>C (p.Lys497Gln)
n.831A>C
c.1396A>C (p.Lys466Gln)
c.937A>C (p.Lys313Gln)
c.1249A>C (p.Lys417Gln)
c.946A>C (p.Lys316Gln)
c.1393A>C (p.Lys465Gln)
c.1486A>C (p.Lys496Gln)
7g.99760840G>ACA456686437CYP3A4c.1488C>T (p.Phe496=)
n.830C>T
c.1395C>T (p.Phe465=)
c.936C>T (p.Phe312=)
c.1248C>T (p.Phe416=)
c.945C>T (p.Phe315=)
c.1392C>T (p.Phe464=)
c.1485C>T (p.Phe495=)
7g.99760840G>CCA368367592CYP3A4c.1488C>G (p.Phe496Leu)
n.830C>G
c.1395C>G (p.Phe465Leu)
c.936C>G (p.Phe312Leu)
c.1248C>G (p.Phe416Leu)
c.945C>G (p.Phe315Leu)
c.1392C>G (p.Phe464Leu)
c.1485C>G (p.Phe495Leu)
7g.99760840G>TCA368367593CYP3A4c.1488C>A (p.Phe496Leu)
n.830C>A
c.1395C>A (p.Phe465Leu)
c.936C>A (p.Phe312Leu)
c.1248C>A (p.Phe416Leu)
c.945C>A (p.Phe315Leu)
c.1392C>A (p.Phe464Leu)
c.1485C>A (p.Phe495Leu)
7g.99760841A>CCA368367596CYP3A4c.1487T>G (p.Phe496Cys)
n.829T>G
c.1394T>G (p.Phe465Cys)
c.935T>G (p.Phe312Cys)
c.1247T>G (p.Phe416Cys)
c.944T>G (p.Phe315Cys)
c.1391T>G (p.Phe464Cys)
c.1484T>G (p.Phe495Cys)
7g.99760841A>GCA368367599CYP3A4c.1487T>C (p.Phe496Ser)
n.829T>C
c.1394T>C (p.Phe465Ser)
c.935T>C (p.Phe312Ser)
c.1247T>C (p.Phe416Ser)
c.944T>C (p.Phe315Ser)
c.1391T>C (p.Phe464Ser)
c.1484T>C (p.Phe495Ser)
7g.99760841A>TCA368367598CYP3A4c.1487T>A (p.Phe496Tyr)
n.829T>A
c.1394T>A (p.Phe465Tyr)
c.935T>A (p.Phe312Tyr)
c.1247T>A (p.Phe416Tyr)
c.944T>A (p.Phe315Tyr)
c.1391T>A (p.Phe464Tyr)
c.1484T>A (p.Phe495Tyr)
7g.99760841_99760844delinsAAGGCA1729176739CYP3A4c.1484_1487delinsCCTT (p.Ser495=)
n.826_829delinsCCTT
c.1391_1394delinsCCTT (p.Ser464=)
c.932_935delinsCCTT (p.Ser311=)
c.1244_1247delinsCCTT (p.Ser415=)
c.941_944delinsCCTT (p.Ser314=)
c.1388_1391delinsCCTT (p.Ser463=)
c.1481_1484delinsCCTT (p.Ser494=)
7g.99760842A=CA1729176740CYP3A4c.1486T= (p.Phe496=)
n.828T=
c.1393T= (p.Phe465=)
c.934T= (p.Phe312=)
c.1246T= (p.Phe416=)
c.943T= (p.Phe315=)
c.1390T= (p.Phe464=)
c.1483T= (p.Phe495=)
7g.99760842A>CCA368367603CYP3A4c.1486T>G (p.Phe496Val)
n.828T>G
c.1393T>G (p.Phe465Val)
c.934T>G (p.Phe312Val)
c.1246T>G (p.Phe416Val)
c.943T>G (p.Phe315Val)
c.1390T>G (p.Phe464Val)
c.1483T>G (p.Phe495Val)
7g.99760842A>GCA368367605CYP3A4c.1486T>C (p.Phe496Leu)
n.828T>C
c.1393T>C (p.Phe465Leu)
c.934T>C (p.Phe312Leu)
c.1246T>C (p.Phe416Leu)
c.943T>C (p.Phe315Leu)
c.1390T>C (p.Phe464Leu)
c.1483T>C (p.Phe495Leu)
7g.99760842A>TCA368367607CYP3A4c.1486T>A (p.Phe496Ile)
n.828T>A
c.1393T>A (p.Phe465Ile)
c.934T>A (p.Phe312Ile)
c.1246T>A (p.Phe416Ile)
c.943T>A (p.Phe315Ile)
c.1390T>A (p.Phe464Ile)
c.1483T>A (p.Phe495Ile)
7g.99760844_99760846delCA4369482CYP3A4c.1484_1486del (p.Ser495del)
n.826_828del
c.1391_1393del (p.Ser464del)
c.932_934del (p.Ser311del)
c.1244_1246del (p.Ser415del)
c.941_943del (p.Ser314del)
c.1388_1390del (p.Ser463del)
c.1481_1483del (p.Ser494del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760843G>ACA456686443CYP3A4c.1485C>T (p.Ser495=)
n.827C>T
c.1392C>T (p.Ser464=)
c.933C>T (p.Ser311=)
c.1245C>T (p.Ser415=)
c.942C>T (p.Ser314=)
c.1389C>T (p.Ser463=)
c.1482C>T (p.Ser494=)
dbSNP gnomAD v4
7g.99760843G>CCA456686442CYP3A4c.1485C>G (p.Ser495=)
n.827C>G
c.1392C>G (p.Ser464=)
c.933C>G (p.Ser311=)
c.1245C>G (p.Ser415=)
c.942C>G (p.Ser314=)
c.1389C>G (p.Ser463=)
c.1482C>G (p.Ser494=)
7g.99760843G>TCA456686441CYP3A4c.1485C>A (p.Ser495=)
n.827C>A
c.1392C>A (p.Ser464=)
c.933C>A (p.Ser311=)
c.1245C>A (p.Ser415=)
c.942C>A (p.Ser314=)
c.1389C>A (p.Ser463=)
c.1482C>A (p.Ser494=)
7g.99760844dupCA163151098CYP3A4c.1485dup (p.Phe496LeufsTer5)
n.827dup
c.1392dup (p.Phe465LeufsTer5)
c.933dup (p.Phe312LeufsTer5)
c.1245dup (p.Phe416LeufsTer5)
c.942dup (p.Phe315LeufsTer5)
c.1389dup (p.Phe464LeufsTer5)
c.1482dup (p.Phe495LeufsTer5)
dbSNP
7g.99760844G>ACA4369483CYP3A4c.1484C>T (p.Ser495Phe)
n.826C>T
c.1391C>T (p.Ser464Phe)
c.932C>T (p.Ser311Phe)
c.1244C>T (p.Ser415Phe)
c.941C>T (p.Ser314Phe)
c.1388C>T (p.Ser463Phe)
c.1481C>T (p.Ser494Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760844G>CCA368367611CYP3A4c.1484C>G (p.Ser495Cys)
n.826C>G
c.1391C>G (p.Ser464Cys)
c.932C>G (p.Ser311Cys)
c.1244C>G (p.Ser415Cys)
c.941C>G (p.Ser314Cys)
c.1388C>G (p.Ser463Cys)
c.1481C>G (p.Ser494Cys)
7g.99760844G=CA1729176741CYP3A4c.1484C= (p.Ser495=)
n.826C=
c.1391C= (p.Ser464=)
c.932C= (p.Ser311=)
c.1244C= (p.Ser415=)
c.941C= (p.Ser314=)
c.1388C= (p.Ser463=)
c.1481C= (p.Ser494=)
7g.99760844G>TCA368367613CYP3A4c.1484C>A (p.Ser495Tyr)
n.826C>A
c.1391C>A (p.Ser464Tyr)
c.932C>A (p.Ser311Tyr)
c.1244C>A (p.Ser415Tyr)
c.941C>A (p.Ser314Tyr)
c.1388C>A (p.Ser463Tyr)
c.1481C>A (p.Ser494Tyr)
7g.99760845A=CA1729176742CYP3A4c.1483T= (p.Ser495=)
n.825T=
c.1390T= (p.Ser464=)
c.931T= (p.Ser311=)
c.1243T= (p.Ser415=)
c.940T= (p.Ser314=)
c.1387T= (p.Ser463=)
c.1480T= (p.Ser494=)
7g.99760845A>CCA368367615CYP3A4c.1483T>G (p.Ser495Ala)
n.825T>G
c.1390T>G (p.Ser464Ala)
c.931T>G (p.Ser311Ala)
c.1243T>G (p.Ser415Ala)
c.940T>G (p.Ser314Ala)
c.1387T>G (p.Ser463Ala)
c.1480T>G (p.Ser494Ala)
7g.99760845A>GCA368367616CYP3A4c.1483T>C (p.Ser495Pro)
n.825T>C
c.1390T>C (p.Ser464Pro)
c.931T>C (p.Ser311Pro)
c.1243T>C (p.Ser415Pro)
c.940T>C (p.Ser314Pro)
c.1387T>C (p.Ser463Pro)
c.1480T>C (p.Ser494Pro)
7g.99760845A>TCA4369484CYP3A4c.1483T>A (p.Ser495Thr)
n.825T>A
c.1390T>A (p.Ser464Thr)
c.931T>A (p.Ser311Thr)
c.1243T>A (p.Ser415Thr)
c.940T>A (p.Ser314Thr)
c.1387T>A (p.Ser463Thr)
c.1480T>A (p.Ser494Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760846G>ACA456686445CYP3A4c.1482C>T (p.Phe494=)
n.824C>T
c.1389C>T (p.Phe463=)
c.930C>T (p.Phe310=)
c.1242C>T (p.Phe414=)
c.939C>T (p.Phe313=)
c.1386C>T (p.Phe462=)
c.1479C>T (p.Phe493=)
7g.99760846G>CCA368367620CYP3A4c.1482C>G (p.Phe494Leu)
n.824C>G
c.1389C>G (p.Phe463Leu)
c.930C>G (p.Phe310Leu)
c.1242C>G (p.Phe414Leu)
c.939C>G (p.Phe313Leu)
c.1386C>G (p.Phe462Leu)
c.1479C>G (p.Phe493Leu)
7g.99760846G>TCA368367621CYP3A4c.1482C>A (p.Phe494Leu)
n.824C>A
c.1389C>A (p.Phe463Leu)
c.930C>A (p.Phe310Leu)
c.1242C>A (p.Phe414Leu)
c.939C>A (p.Phe313Leu)
c.1386C>A (p.Phe462Leu)
c.1479C>A (p.Phe493Leu)
7g.99760847A=CA1729176743CYP3A4c.1481T= (p.Phe494=)
n.823T=
c.1388T= (p.Phe463=)
c.929T= (p.Phe310=)
c.1241T= (p.Phe414=)
c.938T= (p.Phe313=)
c.1385T= (p.Phe462=)
c.1478T= (p.Phe493=)
7g.99760847A>CCA163151106CYP3A4c.1481T>G (p.Phe494Cys)
n.823T>G
c.1388T>G (p.Phe463Cys)
c.929T>G (p.Phe310Cys)
c.1241T>G (p.Phe414Cys)
c.938T>G (p.Phe313Cys)
c.1385T>G (p.Phe462Cys)
c.1478T>G (p.Phe493Cys)
dbSNP gnomAD v3 gnomAD v4
7g.99760847A>GCA368367624CYP3A4c.1481T>C (p.Phe494Ser)
n.823T>C
c.1388T>C (p.Phe463Ser)
c.929T>C (p.Phe310Ser)
c.1241T>C (p.Phe414Ser)
c.938T>C (p.Phe313Ser)
c.1385T>C (p.Phe462Ser)
c.1478T>C (p.Phe493Ser)
7g.99760847A>TCA368367626CYP3A4c.1481T>A (p.Phe494Tyr)
n.823T>A
c.1388T>A (p.Phe463Tyr)
c.929T>A (p.Phe310Tyr)
c.1241T>A (p.Phe414Tyr)
c.938T>A (p.Phe313Tyr)
c.1385T>A (p.Phe462Tyr)
c.1478T>A (p.Phe493Tyr)
7g.99760848A>CCA368367631CYP3A4c.1480T>G (p.Phe494Val)
n.822T>G
c.1387T>G (p.Phe463Val)
c.928T>G (p.Phe310Val)
c.1240T>G (p.Phe414Val)
c.937T>G (p.Phe313Val)
c.1384T>G (p.Phe462Val)
c.1477T>G (p.Phe493Val)
7g.99760848A>GCA368367630CYP3A4c.1480T>C (p.Phe494Leu)
n.822T>C
c.1387T>C (p.Phe463Leu)
c.928T>C (p.Phe310Leu)
c.1240T>C (p.Phe414Leu)
c.937T>C (p.Phe313Leu)
c.1384T>C (p.Phe462Leu)
c.1477T>C (p.Phe493Leu)
7g.99760848A>TCA368367628CYP3A4c.1480T>A (p.Phe494Ile)
n.822T>A
c.1387T>A (p.Phe463Ile)
c.928T>A (p.Phe310Ile)
c.1240T>A (p.Phe414Ile)
c.937T>A (p.Phe313Ile)
c.1384T>A (p.Phe462Ile)
c.1477T>A (p.Phe493Ile)
7g.99760849G>ACA456686448CYP3A4c.1479C>T (p.Asn493=)
n.821C>T
c.1386C>T (p.Asn462=)
c.927C>T (p.Asn309=)
c.1239C>T (p.Asn413=)
c.936C>T (p.Asn312=)
c.1383C>T (p.Asn461=)
c.1476C>T (p.Asn492=)
7g.99760849G>CCA368367636CYP3A4c.1479C>G (p.Asn493Lys)
n.821C>G
c.1386C>G (p.Asn462Lys)
c.927C>G (p.Asn309Lys)
c.1239C>G (p.Asn413Lys)
c.936C>G (p.Asn312Lys)
c.1383C>G (p.Asn461Lys)
c.1476C>G (p.Asn492Lys)
7g.99760849G=CA1729176744CYP3A4c.1479C= (p.Asn493=)
n.821C=
c.1386C= (p.Asn462=)
c.927C= (p.Asn309=)
c.1239C= (p.Asn413=)
c.936C= (p.Asn312=)
c.1383C= (p.Asn461=)
c.1476C= (p.Asn492=)
7g.99760849G>TCA368367634CYP3A4c.1479C>A (p.Asn493Lys)
n.821C>A
c.1386C>A (p.Asn462Lys)
c.927C>A (p.Asn309Lys)
c.1239C>A (p.Asn413Lys)
c.936C>A (p.Asn312Lys)
c.1383C>A (p.Asn461Lys)
c.1476C>A (p.Asn492Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760850T>ACA368367642CYP3A4c.1478A>T (p.Asn493Ile)
n.820A>T
c.1385A>T (p.Asn462Ile)
c.926A>T (p.Asn309Ile)
c.1238A>T (p.Asn413Ile)
c.935A>T (p.Asn312Ile)
c.1382A>T (p.Asn461Ile)
c.1475A>T (p.Asn492Ile)
7g.99760850T>CCA368367638CYP3A4c.1478A>G (p.Asn493Ser)
n.820A>G
c.1385A>G (p.Asn462Ser)
c.926A>G (p.Asn309Ser)
c.1238A>G (p.Asn413Ser)
c.935A>G (p.Asn312Ser)
c.1382A>G (p.Asn461Ser)
c.1475A>G (p.Asn492Ser)
7g.99760850T>GCA368367640CYP3A4c.1478A>C (p.Asn493Thr)
n.820A>C
c.1385A>C (p.Asn462Thr)
c.926A>C (p.Asn309Thr)
c.1238A>C (p.Asn413Thr)
c.935A>C (p.Asn312Thr)
c.1382A>C (p.Asn461Thr)
c.1475A>C (p.Asn492Thr)
7g.99760851T>ACA368367643CYP3A4c.1477A>T (p.Asn493Tyr)
n.819A>T
c.1384A>T (p.Asn462Tyr)
c.925A>T (p.Asn309Tyr)
c.1237A>T (p.Asn413Tyr)
c.934A>T (p.Asn312Tyr)
c.1381A>T (p.Asn461Tyr)
c.1474A>T (p.Asn492Tyr)
7g.99760851T>CCA368367645CYP3A4c.1477A>G (p.Asn493Asp)
n.819A>G
c.1384A>G (p.Asn462Asp)
c.925A>G (p.Asn309Asp)
c.1237A>G (p.Asn413Asp)
c.934A>G (p.Asn312Asp)
c.1381A>G (p.Asn461Asp)
c.1474A>G (p.Asn492Asp)
gnomAD v4
7g.99760851T>GCA368367647CYP3A4c.1477A>C (p.Asn493His)
n.819A>C
c.1384A>C (p.Asn462His)
c.925A>C (p.Asn309His)
c.1237A>C (p.Asn413His)
c.934A>C (p.Asn312His)
c.1381A>C (p.Asn461His)
c.1474A>C (p.Asn492His)
7g.99760852C>ACA368367648CYP3A4c.1476G>T (p.Gln492His)
n.818G>T
c.1383G>T (p.Gln461His)
c.924G>T (p.Gln308His)
c.1236G>T (p.Gln412His)
c.933G>T (p.Gln311His)
c.1380G>T (p.Gln460His)
c.1473G>T (p.Gln491His)
gnomAD v4
7g.99760852C>GCA368367649CYP3A4c.1476G>C (p.Gln492His)
n.818G>C
c.1383G>C (p.Gln461His)
c.924G>C (p.Gln308His)
c.1236G>C (p.Gln412His)
c.933G>C (p.Gln311His)
c.1380G>C (p.Gln460His)
c.1473G>C (p.Gln491His)
7g.99760852C>TCA456686450CYP3A4c.1476G>A (p.Gln492=)
n.818G>A
c.1383G>A (p.Gln461=)
c.924G>A (p.Gln308=)
c.1236G>A (p.Gln412=)
c.933G>A (p.Gln311=)
c.1380G>A (p.Gln460=)
c.1473G>A (p.Gln491=)
7g.99760853T>ACA368367650CYP3A4c.1475A>T (p.Gln492Leu)
n.817A>T
c.1382A>T (p.Gln461Leu)
c.923A>T (p.Gln308Leu)
c.1235A>T (p.Gln412Leu)
c.932A>T (p.Gln311Leu)
c.1379A>T (p.Gln460Leu)
c.1472A>T (p.Gln491Leu)
7g.99760853T>CCA368367652CYP3A4c.1475A>G (p.Gln492Arg)
n.817A>G
c.1382A>G (p.Gln461Arg)
c.923A>G (p.Gln308Arg)
c.1235A>G (p.Gln412Arg)
c.932A>G (p.Gln311Arg)
c.1379A>G (p.Gln460Arg)
c.1472A>G (p.Gln491Arg)
7g.99760853T>GCA368367654CYP3A4c.1475A>C (p.Gln492Pro)
n.817A>C
c.1382A>C (p.Gln461Pro)
c.923A>C (p.Gln308Pro)
c.1235A>C (p.Gln412Pro)
c.932A>C (p.Gln311Pro)
c.1379A>C (p.Gln460Pro)
c.1472A>C (p.Gln491Pro)
7g.99760854G>ACA368367656CYP3A4c.1474C>T (p.Gln492Ter)
n.816C>T
c.1381C>T (p.Gln461Ter)
c.922C>T (p.Gln308Ter)
c.1234C>T (p.Gln412Ter)
c.931C>T (p.Gln311Ter)
c.1378C>T (p.Gln460Ter)
c.1471C>T (p.Gln491Ter)
7g.99760854G>CCA368367657CYP3A4c.1474C>G (p.Gln492Glu)
n.816C>G
c.1381C>G (p.Gln461Glu)
c.922C>G (p.Gln308Glu)
c.1234C>G (p.Gln412Glu)
c.931C>G (p.Gln311Glu)
c.1378C>G (p.Gln460Glu)
c.1471C>G (p.Gln491Glu)
7g.99760854G>TCA368367659CYP3A4c.1474C>A (p.Gln492Lys)
n.816C>A
c.1381C>A (p.Gln461Lys)
c.922C>A (p.Gln308Lys)
c.1234C>A (p.Gln412Lys)
c.931C>A (p.Gln311Lys)
c.1378C>A (p.Gln460Lys)
c.1471C>A (p.Gln491Lys)
7g.99760854_99760855insGAGTTCAACA2546710694CYP3A4c.1473_1474insTTGAACTC (p.Gln492LeufsTer18)
n.815_816insTTGAACTC
c.1380_1381insTTGAACTC (p.Gln461LeufsTer18)
c.921_922insTTGAACTC (p.Gln308LeufsTer18)
c.1233_1234insTTGAACTC (p.Gln412LeufsTer18)
c.930_931insTTGAACTC (p.Gln311LeufsTer18)
c.1377_1378insTTGAACTC (p.Gln460LeufsTer18)
c.1470_1471insTTGAACTC (p.Gln491LeufsTer18)
7g.99760855A>CCA456686454CYP3A4c.1473T>G (p.Leu491=)
n.815T>G
c.1380T>G (p.Leu460=)
c.921T>G (p.Leu307=)
c.1233T>G (p.Leu411=)
c.930T>G (p.Leu310=)
c.1377T>G (p.Leu459=)
c.1470T>G (p.Leu490=)
7g.99760855A>GCA456686453CYP3A4c.1473T>C (p.Leu491=)
n.815T>C
c.1380T>C (p.Leu460=)
c.921T>C (p.Leu307=)
c.1233T>C (p.Leu411=)
c.930T>C (p.Leu310=)
c.1377T>C (p.Leu459=)
c.1470T>C (p.Leu490=)
7g.99760855A>TCA456686451CYP3A4c.1473T>A (p.Leu491=)
n.815T>A
c.1380T>A (p.Leu460=)
c.921T>A (p.Leu307=)
c.1233T>A (p.Leu411=)
c.930T>A (p.Leu310=)
c.1377T>A (p.Leu459=)
c.1470T>A (p.Leu490=)
7g.99760856A>CCA368367663CYP3A4c.1472T>G (p.Leu491Arg)
n.814T>G
c.1379T>G (p.Leu460Arg)
c.920T>G (p.Leu307Arg)
c.1232T>G (p.Leu411Arg)
c.929T>G (p.Leu310Arg)
c.1376T>G (p.Leu459Arg)
c.1469T>G (p.Leu490Arg)
7g.99760856A>GCA368367665CYP3A4c.1472T>C (p.Leu491Pro)
n.814T>C
c.1379T>C (p.Leu460Pro)
c.920T>C (p.Leu307Pro)
c.1232T>C (p.Leu411Pro)
c.929T>C (p.Leu310Pro)
c.1376T>C (p.Leu459Pro)
c.1469T>C (p.Leu490Pro)
7g.99760856A>TCA368367662CYP3A4c.1472T>A (p.Leu491His)
n.814T>A
c.1379T>A (p.Leu460His)
c.920T>A (p.Leu307His)
c.1232T>A (p.Leu411His)
c.929T>A (p.Leu310His)
c.1376T>A (p.Leu459His)
c.1469T>A (p.Leu490His)
7g.99760857G>ACA4369485CYP3A4c.1471C>T (p.Leu491Phe)
n.813C>T
c.1378C>T (p.Leu460Phe)
c.919C>T (p.Leu307Phe)
c.1231C>T (p.Leu411Phe)
c.928C>T (p.Leu310Phe)
c.1375C>T (p.Leu459Phe)
c.1468C>T (p.Leu490Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760857G>CCA368367667CYP3A4c.1471C>G (p.Leu491Val)
n.813C>G
c.1378C>G (p.Leu460Val)
c.919C>G (p.Leu307Val)
c.1231C>G (p.Leu411Val)
c.928C>G (p.Leu310Val)
c.1375C>G (p.Leu459Val)
c.1468C>G (p.Leu490Val)
7g.99760857G=CA1729176745CYP3A4c.1471C= (p.Leu491=)
n.813C=
c.1378C= (p.Leu460=)
c.919C= (p.Leu307=)
c.1231C= (p.Leu411=)
c.928C= (p.Leu310=)
c.1375C= (p.Leu459=)
c.1468C= (p.Leu490=)
7g.99760857G>TCA368367669CYP3A4c.1471C>A (p.Leu491Ile)
n.813C>A
c.1378C>A (p.Leu460Ile)
c.919C>A (p.Leu307Ile)
c.1231C>A (p.Leu411Ile)
c.928C>A (p.Leu310Ile)
c.1375C>A (p.Leu459Ile)
c.1468C>A (p.Leu490Ile)
7g.99760858G>ACA456686458CYP3A4c.1470C>T (p.Val490=)
n.812C>T
c.1377C>T (p.Val459=)
c.918C>T (p.Val306=)
c.1230C>T (p.Val410=)
c.927C>T (p.Val309=)
c.1374C>T (p.Val458=)
c.1467C>T (p.Val489=)
7g.99760858G>CCA456686460CYP3A4c.1470C>G (p.Val490=)
n.812C>G
c.1377C>G (p.Val459=)
c.918C>G (p.Val306=)
c.1230C>G (p.Val410=)
c.927C>G (p.Val309=)
c.1374C>G (p.Val458=)
c.1467C>G (p.Val489=)
7g.99760858G>TCA456686459CYP3A4c.1470C>A (p.Val490=)
n.812C>A
c.1377C>A (p.Val459=)
c.918C>A (p.Val306=)
c.1230C>A (p.Val410=)
c.927C>A (p.Val309=)
c.1374C>A (p.Val458=)
c.1467C>A (p.Val489=)
7g.99760859A>CCA368367672CYP3A4c.1469T>G (p.Val490Gly)
n.811T>G
c.1376T>G (p.Val459Gly)
c.917T>G (p.Val306Gly)
c.1229T>G (p.Val410Gly)
c.926T>G (p.Val309Gly)
c.1373T>G (p.Val458Gly)
c.1466T>G (p.Val489Gly)
7g.99760859A>GCA368367673CYP3A4c.1469T>C (p.Val490Ala)
n.811T>C
c.1376T>C (p.Val459Ala)
c.917T>C (p.Val306Ala)
c.1229T>C (p.Val410Ala)
c.926T>C (p.Val309Ala)
c.1373T>C (p.Val458Ala)
c.1466T>C (p.Val489Ala)
7g.99760859A>TCA368367674CYP3A4c.1469T>A (p.Val490Asp)
n.811T>A
c.1376T>A (p.Val459Asp)
c.917T>A (p.Val306Asp)
c.1229T>A (p.Val410Asp)
c.926T>A (p.Val309Asp)
c.1373T>A (p.Val458Asp)
c.1466T>A (p.Val489Asp)
7g.99760860C>ACA368367676CYP3A4c.1468G>T (p.Val490Phe)
n.810G>T
c.1375G>T (p.Val459Phe)
c.916G>T (p.Val306Phe)
c.1228G>T (p.Val410Phe)
c.925G>T (p.Val309Phe)
c.1372G>T (p.Val458Phe)
c.1465G>T (p.Val489Phe)
7g.99760860C=CA1729176746CYP3A4c.1468G= (p.Val490=)
n.810G=
c.1375G= (p.Val459=)
c.916G= (p.Val306=)
c.1228G= (p.Val410=)
c.925G= (p.Val309=)
c.1372G= (p.Val458=)
c.1465G= (p.Val489=)
7g.99760860C>GCA368367680CYP3A4c.1468G>C (p.Val490Leu)
n.810G>C
c.1375G>C (p.Val459Leu)
c.916G>C (p.Val306Leu)
c.1228G>C (p.Val410Leu)
c.925G>C (p.Val309Leu)
c.1372G>C (p.Val458Leu)
c.1465G>C (p.Val489Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760860C>TCA368367678CYP3A4c.1468G>A (p.Val490Ile)
n.810G>A
c.1375G>A (p.Val459Ile)
c.916G>A (p.Val306Ile)
c.1228G>A (p.Val410Ile)
c.925G>A (p.Val309Ile)
c.1372G>A (p.Val458Ile)
c.1465G>A (p.Val489Ile)
7g.99760861T>ACA368367681CYP3A4c.1467A>T (p.Arg489Ser)
n.809A>T
c.1374A>T (p.Arg458Ser)
c.915A>T (p.Arg305Ser)
c.1227A>T (p.Arg409Ser)
c.924A>T (p.Arg308Ser)
c.1371A>T (p.Arg457Ser)
c.1464A>T (p.Arg488Ser)
7g.99760861T>CCA456686462CYP3A4c.1467A>G (p.Arg489=)
n.809A>G
c.1374A>G (p.Arg458=)
c.915A>G (p.Arg305=)
c.1227A>G (p.Arg409=)
c.924A>G (p.Arg308=)
c.1371A>G (p.Arg457=)
c.1464A>G (p.Arg488=)
dbSNP gnomAD v3 gnomAD v4
7g.99760861T>GCA368367682CYP3A4c.1467A>C (p.Arg489Ser)
n.809A>C
c.1374A>C (p.Arg458Ser)
c.915A>C (p.Arg305Ser)
c.1227A>C (p.Arg409Ser)
c.924A>C (p.Arg308Ser)
c.1371A>C (p.Arg457Ser)
c.1464A>C (p.Arg488Ser)
7g.99760861T=CA1729176747CYP3A4c.1467A= (p.Arg489=)
n.809A=
c.1374A= (p.Arg458=)
c.915A= (p.Arg305=)
c.1227A= (p.Arg409=)
c.924A= (p.Arg308=)
c.1371A= (p.Arg457=)
c.1464A= (p.Arg488=)
7g.99760862C>ACA368367684CYP3A4c.1466G>T (p.Arg489Ile)
n.808G>T
c.1373G>T (p.Arg458Ile)
c.914G>T (p.Arg305Ile)
c.1226G>T (p.Arg409Ile)
c.923G>T (p.Arg308Ile)
c.1370G>T (p.Arg457Ile)
c.1463G>T (p.Arg488Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760862C=CA1729176748CYP3A4c.1466G= (p.Arg489=)
n.808G=
c.1373G= (p.Arg458=)
c.914G= (p.Arg305=)
c.1226G= (p.Arg409=)
c.923G= (p.Arg308=)
c.1370G= (p.Arg457=)
c.1463G= (p.Arg488=)
7g.99760862C>GCA368367685CYP3A4c.1466G>C (p.Arg489Thr)
n.808G>C
c.1373G>C (p.Arg458Thr)
c.914G>C (p.Arg305Thr)
c.1226G>C (p.Arg409Thr)
c.923G>C (p.Arg308Thr)
c.1370G>C (p.Arg457Thr)
c.1463G>C (p.Arg488Thr)
COSMIC
7g.99760862C>TCA368367687CYP3A4c.1466G>A (p.Arg489Lys)
n.808G>A
c.1373G>A (p.Arg458Lys)
c.914G>A (p.Arg305Lys)
c.1226G>A (p.Arg409Lys)
c.923G>A (p.Arg308Lys)
c.1370G>A (p.Arg457Lys)
c.1463G>A (p.Arg488Lys)
gnomAD v4
7g.99760863T>ACA368367689CYP3A4c.1465A>T (p.Arg489Ter)
n.807A>T
c.1372A>T (p.Arg458Ter)
c.913A>T (p.Arg305Ter)
c.1225A>T (p.Arg409Ter)
c.922A>T (p.Arg308Ter)
c.1369A>T (p.Arg457Ter)
c.1462A>T (p.Arg488Ter)
7g.99760863T>CCA368367690CYP3A4c.1465A>G (p.Arg489Gly)
n.807A>G
c.1372A>G (p.Arg458Gly)
c.913A>G (p.Arg305Gly)
c.1225A>G (p.Arg409Gly)
c.922A>G (p.Arg308Gly)
c.1369A>G (p.Arg457Gly)
c.1462A>G (p.Arg488Gly)
dbSNP
7g.99760863T>GCA456686463CYP3A4c.1465A>C (p.Arg489=)
n.807A>C
c.1372A>C (p.Arg458=)
c.913A>C (p.Arg305=)
c.1225A>C (p.Arg409=)
c.922A>C (p.Arg308=)
c.1369A>C (p.Arg457=)
c.1462A>C (p.Arg488=)
gnomAD v4
7g.99760863T=CA1729176749CYP3A4c.1465A= (p.Arg489=)
n.807A=
c.1372A= (p.Arg458=)
c.913A= (p.Arg305=)
c.1225A= (p.Arg409=)
c.922A= (p.Arg308=)
c.1369A= (p.Arg457=)
c.1462A= (p.Arg488=)
7g.99760864G>ACA456686465CYP3A4c.1464C>T (p.Ile488=)
n.806C>T
c.1371C>T (p.Ile457=)
c.912C>T (p.Ile304=)
c.1224C>T (p.Ile408=)
c.921C>T (p.Ile307=)
c.1368C>T (p.Ile456=)
c.1461C>T (p.Ile487=)
gnomAD v4
7g.99760864G>CCA368367692CYP3A4c.1464C>G (p.Ile488Met)
n.806C>G
c.1371C>G (p.Ile457Met)
c.912C>G (p.Ile304Met)
c.1224C>G (p.Ile408Met)
c.921C>G (p.Ile307Met)
c.1368C>G (p.Ile456Met)
c.1461C>G (p.Ile487Met)
7g.99760864G>TCA456686466CYP3A4c.1464C>A (p.Ile488=)
n.806C>A
c.1371C>A (p.Ile457=)
c.912C>A (p.Ile304=)
c.1224C>A (p.Ile408=)
c.921C>A (p.Ile307=)
c.1368C>A (p.Ile456=)
c.1461C>A (p.Ile487=)
COSMIC
7g.99760865A>CCA368367694CYP3A4c.1463T>G (p.Ile488Ser)
n.805T>G
c.1370T>G (p.Ile457Ser)
c.911T>G (p.Ile304Ser)
c.1223T>G (p.Ile408Ser)
c.920T>G (p.Ile307Ser)
c.1367T>G (p.Ile456Ser)
c.1460T>G (p.Ile487Ser)
7g.99760865A>GCA368367696CYP3A4c.1463T>C (p.Ile488Thr)
n.805T>C
c.1370T>C (p.Ile457Thr)
c.911T>C (p.Ile304Thr)
c.1223T>C (p.Ile408Thr)
c.920T>C (p.Ile307Thr)
c.1367T>C (p.Ile456Thr)
c.1460T>C (p.Ile487Thr)
7g.99760865A>TCA368367698CYP3A4c.1463T>A (p.Ile488Asn)
n.805T>A
c.1370T>A (p.Ile457Asn)
c.911T>A (p.Ile304Asn)
c.1223T>A (p.Ile408Asn)
c.920T>A (p.Ile307Asn)
c.1367T>A (p.Ile456Asn)
c.1460T>A (p.Ile487Asn)
gnomAD v4
7g.99760866T>ACA368367699CYP3A4c.1462A>T (p.Ile488Phe)
n.804A>T
c.1369A>T (p.Ile457Phe)
c.910A>T (p.Ile304Phe)
c.1222A>T (p.Ile408Phe)
c.919A>T (p.Ile307Phe)
c.1366A>T (p.Ile456Phe)
c.1459A>T (p.Ile487Phe)
7g.99760866T>CCA4369486CYP3A4c.1462A>G (p.Ile488Val)
n.804A>G
c.1369A>G (p.Ile457Val)
c.910A>G (p.Ile304Val)
c.1222A>G (p.Ile408Val)
c.919A>G (p.Ile307Val)
c.1366A>G (p.Ile456Val)
c.1459A>G (p.Ile487Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760866T>GCA368367701CYP3A4c.1462A>C (p.Ile488Leu)
n.804A>C
c.1369A>C (p.Ile457Leu)
c.910A>C (p.Ile304Leu)
c.1222A>C (p.Ile408Leu)
c.919A>C (p.Ile307Leu)
c.1366A>C (p.Ile456Leu)
c.1459A>C (p.Ile487Leu)
7g.99760866T=CA1729176750CYP3A4c.1462A= (p.Ile488=)
n.804A=
c.1369A= (p.Ile457=)
c.910A= (p.Ile304=)
c.1222A= (p.Ile408=)
c.919A= (p.Ile307=)
c.1366A= (p.Ile456=)
c.1459A= (p.Ile487=)
7g.99760867T>ACA4369488CYP3A4c.1461A>T (p.Leu487=)
n.803A>T
c.1368A>T (p.Leu456=)
c.909A>T (p.Leu303=)
c.1221A>T (p.Leu407=)
c.918A>T (p.Leu306=)
c.1365A>T (p.Leu455=)
c.1458A>T (p.Leu486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760867T>CCA4369487CYP3A4c.1461A>G (p.Leu487=)
n.803A>G
c.1368A>G (p.Leu456=)
c.909A>G (p.Leu303=)
c.1221A>G (p.Leu407=)
c.918A>G (p.Leu306=)
c.1365A>G (p.Leu455=)
c.1458A>G (p.Leu486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760867T>GCA456686467CYP3A4c.1461A>C (p.Leu487=)
n.803A>C
c.1368A>C (p.Leu456=)
c.909A>C (p.Leu303=)
c.1221A>C (p.Leu407=)
c.918A>C (p.Leu306=)
c.1365A>C (p.Leu455=)
c.1458A>C (p.Leu486=)
7g.99760867T=CA1729176751CYP3A4c.1461A= (p.Leu487=)
n.803A=
c.1368A= (p.Leu456=)
c.909A= (p.Leu303=)
c.1221A= (p.Leu407=)
c.918A= (p.Leu306=)
c.1365A= (p.Leu455=)
c.1458A= (p.Leu486=)
7g.99760868A>CCA368367705CYP3A4c.1460T>G (p.Leu487Arg)
n.802T>G
c.1367T>G (p.Leu456Arg)
c.908T>G (p.Leu303Arg)
c.1220T>G (p.Leu407Arg)
c.917T>G (p.Leu306Arg)
c.1364T>G (p.Leu455Arg)
c.1457T>G (p.Leu486Arg)
7g.99760868A>GCA368367706CYP3A4c.1460T>C (p.Leu487Pro)
n.802T>C
c.1367T>C (p.Leu456Pro)
c.908T>C (p.Leu303Pro)
c.1220T>C (p.Leu407Pro)
c.917T>C (p.Leu306Pro)
c.1364T>C (p.Leu455Pro)
c.1457T>C (p.Leu486Pro)
7g.99760868A>TCA368367708CYP3A4c.1460T>A (p.Leu487Gln)
n.802T>A
c.1367T>A (p.Leu456Gln)
c.908T>A (p.Leu303Gln)
c.1220T>A (p.Leu407Gln)
c.917T>A (p.Leu306Gln)
c.1364T>A (p.Leu455Gln)
c.1457T>A (p.Leu486Gln)
7g.99760869G>ACA456686468CYP3A4c.1459C>T (p.Leu487=)
n.801C>T
c.1366C>T (p.Leu456=)
c.907C>T (p.Leu303=)
c.1219C>T (p.Leu407=)
c.916C>T (p.Leu306=)
c.1363C>T (p.Leu455=)
c.1456C>T (p.Leu486=)
gnomAD v4
7g.99760869G>CCA368367710CYP3A4c.1459C>G (p.Leu487Val)
n.801C>G
c.1366C>G (p.Leu456Val)
c.907C>G (p.Leu303Val)
c.1219C>G (p.Leu407Val)
c.916C>G (p.Leu306Val)
c.1363C>G (p.Leu455Val)
c.1456C>G (p.Leu486Val)
gnomAD v4
7g.99760869G>TCA368367712CYP3A4c.1459C>A (p.Leu487Ile)
n.801C>A
c.1366C>A (p.Leu456Ile)
c.907C>A (p.Leu303Ile)
c.1219C>A (p.Leu407Ile)
c.916C>A (p.Leu306Ile)
c.1363C>A (p.Leu455Ile)
c.1456C>A (p.Leu486Ile)
7g.99760870A>CCA456686472CYP3A4c.1458T>G (p.Ala486=)
n.800T>G
c.1365T>G (p.Ala455=)
c.906T>G (p.Ala302=)
c.1218T>G (p.Ala406=)
c.915T>G (p.Ala305=)
c.1362T>G (p.Ala454=)
c.1455T>G (p.Ala485=)
7g.99760870A>GCA456686473CYP3A4c.1458T>C (p.Ala486=)
n.800T>C
c.1365T>C (p.Ala455=)
c.906T>C (p.Ala302=)
c.1218T>C (p.Ala406=)
c.915T>C (p.Ala305=)
c.1362T>C (p.Ala454=)
c.1455T>C (p.Ala485=)
7g.99760870A>TCA456686474CYP3A4c.1458T>A (p.Ala486=)
n.800T>A
c.1365T>A (p.Ala455=)
c.906T>A (p.Ala302=)
c.1218T>A (p.Ala406=)
c.915T>A (p.Ala305=)
c.1362T>A (p.Ala454=)
c.1455T>A (p.Ala485=)
7g.99760871G>ACA368367718CYP3A4c.1457C>T (p.Ala486Val)
n.799C>T
c.1364C>T (p.Ala455Val)
c.905C>T (p.Ala302Val)
c.1217C>T (p.Ala406Val)
c.914C>T (p.Ala305Val)
c.1361C>T (p.Ala454Val)
c.1454C>T (p.Ala485Val)
7g.99760871G>CCA368367716CYP3A4c.1457C>G (p.Ala486Gly)
n.799C>G
c.1364C>G (p.Ala455Gly)
c.905C>G (p.Ala302Gly)
c.1217C>G (p.Ala406Gly)
c.914C>G (p.Ala305Gly)
c.1361C>G (p.Ala454Gly)
c.1454C>G (p.Ala485Gly)
7g.99760871G>TCA368367714CYP3A4c.1457C>A (p.Ala486Asp)
n.799C>A
c.1364C>A (p.Ala455Asp)
c.905C>A (p.Ala302Asp)
c.1217C>A (p.Ala406Asp)
c.914C>A (p.Ala305Asp)
c.1361C>A (p.Ala454Asp)
c.1454C>A (p.Ala485Asp)
7g.99760872C>ACA368367719CYP3A4c.1456G>T (p.Ala486Ser)
n.798G>T
c.1363G>T (p.Ala455Ser)
c.904G>T (p.Ala302Ser)
c.1216G>T (p.Ala406Ser)
c.913G>T (p.Ala305Ser)
c.1360G>T (p.Ala454Ser)
c.1453G>T (p.Ala485Ser)
dbSNP
7g.99760872C=CA1729176752CYP3A4c.1456G= (p.Ala486=)
n.798G=
c.1363G= (p.Ala455=)
c.904G= (p.Ala302=)
c.1216G= (p.Ala406=)
c.913G= (p.Ala305=)
c.1360G= (p.Ala454=)
c.1453G= (p.Ala485=)
7g.99760872C>GCA368367721CYP3A4c.1456G>C (p.Ala486Pro)
n.798G>C
c.1363G>C (p.Ala455Pro)
c.904G>C (p.Ala302Pro)
c.1216G>C (p.Ala406Pro)
c.913G>C (p.Ala305Pro)
c.1360G>C (p.Ala454Pro)
c.1453G>C (p.Ala485Pro)
7g.99760872C>TCA368367723CYP3A4c.1456G>A (p.Ala486Thr)
n.798G>A
c.1363G>A (p.Ala455Thr)
c.904G>A (p.Ala302Thr)
c.1216G>A (p.Ala406Thr)
c.913G>A (p.Ala305Thr)
c.1360G>A (p.Ala454Thr)
c.1453G>A (p.Ala485Thr)
7g.99760873A>CCA456686476CYP3A4c.1455T>G (p.Leu485=)
n.797T>G
c.1362T>G (p.Leu454=)
c.903T>G (p.Leu301=)
c.1215T>G (p.Leu405=)
c.912T>G (p.Leu304=)
c.1359T>G (p.Leu453=)
c.1452T>G (p.Leu484=)
7g.99760873A>GCA456686478CYP3A4c.1455T>C (p.Leu485=)
n.797T>C
c.1362T>C (p.Leu454=)
c.903T>C (p.Leu301=)
c.1215T>C (p.Leu405=)
c.912T>C (p.Leu304=)
c.1359T>C (p.Leu453=)
c.1452T>C (p.Leu484=)
7g.99760873A>TCA456686477CYP3A4c.1455T>A (p.Leu485=)
n.797T>A
c.1362T>A (p.Leu454=)
c.903T>A (p.Leu301=)
c.1215T>A (p.Leu405=)
c.912T>A (p.Leu304=)
c.1359T>A (p.Leu453=)
c.1452T>A (p.Leu484=)
7g.99760874A=CA1729176753CYP3A4c.1454T= (p.Leu485=)
n.796T=
c.1361T= (p.Leu454=)
c.902T= (p.Leu301=)
c.1214T= (p.Leu405=)
c.911T= (p.Leu304=)
c.1358T= (p.Leu453=)
c.1451T= (p.Leu484=)
7g.99760874A>CCA368367725CYP3A4c.1454T>G (p.Leu485Arg)
n.796T>G
c.1361T>G (p.Leu454Arg)
c.902T>G (p.Leu301Arg)
c.1214T>G (p.Leu405Arg)
c.911T>G (p.Leu304Arg)
c.1358T>G (p.Leu453Arg)
c.1451T>G (p.Leu484Arg)
7g.99760874A>GCA4369489CYP3A4c.1454T>C (p.Leu485Pro)
n.796T>C
c.1361T>C (p.Leu454Pro)
c.902T>C (p.Leu301Pro)
c.1214T>C (p.Leu405Pro)
c.911T>C (p.Leu304Pro)
c.1358T>C (p.Leu453Pro)
c.1451T>C (p.Leu484Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760874A>TCA368367727CYP3A4c.1454T>A (p.Leu485His)
n.796T>A
c.1361T>A (p.Leu454His)
c.902T>A (p.Leu301His)
c.1214T>A (p.Leu405His)
c.911T>A (p.Leu304His)
c.1358T>A (p.Leu453His)
c.1451T>A (p.Leu484His)
7g.99760874_99760875delinsAGCA1729176754CYP3A4c.1453_1454delinsCT (p.Leu485=)
n.795_796delinsCT
c.1360_1361delinsCT (p.Leu454=)
c.901_902delinsCT (p.Leu301=)
c.1213_1214delinsCT (p.Leu405=)
c.910_911delinsCT (p.Leu304=)
c.1357_1358delinsCT (p.Leu453=)
c.1450_1451delinsCT (p.Leu484=)
7g.99760875delCA918084481CYP3A4c.1453del (p.Ala486LeufsTer2)
n.795del
c.1360del (p.Ala455LeufsTer2)
c.901del (p.Ala302LeufsTer2)
c.1213del (p.Ala406LeufsTer2)
c.910del (p.Ala305LeufsTer2)
c.1357del (p.Ala454LeufsTer2)
c.1450del (p.Ala485LeufsTer2)
dbSNP
7g.99760875G>ACA163151123CYP3A4c.1453C>T (p.Leu485Phe)
n.795C>T
c.1360C>T (p.Leu454Phe)
c.901C>T (p.Leu301Phe)
c.1213C>T (p.Leu405Phe)
c.910C>T (p.Leu304Phe)
c.1357C>T (p.Leu453Phe)
c.1450C>T (p.Leu484Phe)
dbSNP
7g.99760875G>CCA368367730CYP3A4c.1453C>G (p.Leu485Val)
n.795C>G
c.1360C>G (p.Leu454Val)
c.901C>G (p.Leu301Val)
c.1213C>G (p.Leu405Val)
c.910C>G (p.Leu304Val)
c.1357C>G (p.Leu453Val)
c.1450C>G (p.Leu484Val)
7g.99760875G=CA1729176755CYP3A4c.1453C= (p.Leu485=)
n.795C=
c.1360C= (p.Leu454=)
c.901C= (p.Leu301=)
c.1213C= (p.Leu405=)
c.910C= (p.Leu304=)
c.1357C= (p.Leu453=)
c.1450C= (p.Leu484=)
7g.99760875G>TCA368367732CYP3A4c.1453C>A (p.Leu485Ile)
n.795C>A
c.1360C>A (p.Leu454Ile)
c.901C>A (p.Leu301Ile)
c.1213C>A (p.Leu405Ile)
c.910C>A (p.Leu304Ile)
c.1357C>A (p.Leu453Ile)
c.1450C>A (p.Leu484Ile)
dbSNP
7g.99760876T>ACA368367733CYP3A4c.1452A>T (p.Lys484Asn)
n.794A>T
c.1359A>T (p.Lys453Asn)
c.900A>T (p.Lys300Asn)
c.1212A>T (p.Lys404Asn)
c.909A>T (p.Lys303Asn)
c.1356A>T (p.Lys452Asn)
c.1449A>T (p.Lys483Asn)
7g.99760876T>CCA456686481CYP3A4c.1452A>G (p.Lys484=)
n.794A>G
c.1359A>G (p.Lys453=)
c.900A>G (p.Lys300=)
c.1212A>G (p.Lys404=)
c.909A>G (p.Lys303=)
c.1356A>G (p.Lys452=)
c.1449A>G (p.Lys483=)
7g.99760876T>GCA4369491CYP3A4c.1452A>C (p.Lys484Asn)
n.794A>C
c.1359A>C (p.Lys453Asn)
c.900A>C (p.Lys300Asn)
c.1212A>C (p.Lys404Asn)
c.909A>C (p.Lys303Asn)
c.1356A>C (p.Lys452Asn)
c.1449A>C (p.Lys483Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760876T=CA1729176756CYP3A4c.1452A= (p.Lys484=)
n.794A=
c.1359A= (p.Lys453=)
c.900A= (p.Lys300=)
c.1212A= (p.Lys404=)
c.909A= (p.Lys303=)
c.1356A= (p.Lys452=)
c.1449A= (p.Lys483=)
7g.99760878dupCA4369490CYP3A4c.1452dup (p.Leu485ThrfsTer16)
n.794dup
c.1359dup (p.Leu454ThrfsTer16)
c.900dup (p.Leu301ThrfsTer16)
c.1212dup (p.Leu405ThrfsTer16)
c.909dup (p.Leu304ThrfsTer16)
c.1356dup (p.Leu453ThrfsTer16)
c.1449dup (p.Leu484ThrfsTer16)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760877T>ACA368367735CYP3A4c.1451A>T (p.Lys484Ile)
n.793A>T
c.1358A>T (p.Lys453Ile)
c.899A>T (p.Lys300Ile)
c.1211A>T (p.Lys404Ile)
c.908A>T (p.Lys303Ile)
c.1355A>T (p.Lys452Ile)
c.1448A>T (p.Lys483Ile)
7g.99760877T>CCA368367737CYP3A4c.1451A>G (p.Lys484Arg)
n.793A>G
c.1358A>G (p.Lys453Arg)
c.899A>G (p.Lys300Arg)
c.1211A>G (p.Lys404Arg)
c.908A>G (p.Lys303Arg)
c.1355A>G (p.Lys452Arg)
c.1448A>G (p.Lys483Arg)
7g.99760877T>GCA368367736CYP3A4c.1451A>C (p.Lys484Thr)
n.793A>C
c.1358A>C (p.Lys453Thr)
c.899A>C (p.Lys300Thr)
c.1211A>C (p.Lys404Thr)
c.908A>C (p.Lys303Thr)
c.1355A>C (p.Lys452Thr)
c.1448A>C (p.Lys483Thr)
7g.99760878T>ACA368367740CYP3A4c.1450A>T (p.Lys484Ter)
n.792A>T
c.1357A>T (p.Lys453Ter)
c.898A>T (p.Lys300Ter)
c.1210A>T (p.Lys404Ter)
c.907A>T (p.Lys303Ter)
c.1354A>T (p.Lys452Ter)
c.1447A>T (p.Lys483Ter)
7g.99760878T>CCA368367742CYP3A4c.1450A>G (p.Lys484Glu)
n.792A>G
c.1357A>G (p.Lys453Glu)
c.898A>G (p.Lys300Glu)
c.1210A>G (p.Lys404Glu)
c.907A>G (p.Lys303Glu)
c.1354A>G (p.Lys452Glu)
c.1447A>G (p.Lys483Glu)
7g.99760878T>GCA368367743CYP3A4c.1450A>C (p.Lys484Gln)
n.792A>C
c.1357A>C (p.Lys453Gln)
c.898A>C (p.Lys300Gln)
c.1210A>C (p.Lys404Gln)
c.907A>C (p.Lys303Gln)
c.1354A>C (p.Lys452Gln)
c.1447A>C (p.Lys483Gln)
7g.99760879C>ACA368367746CYP3A4c.1449G>T (p.Met483Ile)
n.791G>T
c.1356G>T (p.Met452Ile)
c.897G>T (p.Met299Ile)
c.1209G>T (p.Met403Ile)
c.906G>T (p.Met302Ile)
c.1353G>T (p.Met451Ile)
c.1446G>T (p.Met482Ile)
COSMIC
7g.99760879C>GCA368367748CYP3A4c.1449G>C (p.Met483Ile)
n.791G>C
c.1356G>C (p.Met452Ile)
c.897G>C (p.Met299Ile)
c.1209G>C (p.Met403Ile)
c.906G>C (p.Met302Ile)
c.1353G>C (p.Met451Ile)
c.1446G>C (p.Met482Ile)
7g.99760879C>TCA368367749CYP3A4c.1449G>A (p.Met483Ile)
n.791G>A
c.1356G>A (p.Met452Ile)
c.897G>A (p.Met299Ile)
c.1209G>A (p.Met403Ile)
c.906G>A (p.Met302Ile)
c.1353G>A (p.Met451Ile)
c.1446G>A (p.Met482Ile)
COSMIC
7g.99760880A=CA1729176757CYP3A4c.1448T= (p.Met483=)
n.790T=
c.1355T= (p.Met452=)
c.896T= (p.Met299=)
c.1208T= (p.Met403=)
c.905T= (p.Met302=)
c.1352T= (p.Met451=)
c.1445T= (p.Met482=)
7g.99760880A>CCA368367753CYP3A4c.1448T>G (p.Met483Arg)
n.790T>G
c.1355T>G (p.Met452Arg)
c.896T>G (p.Met299Arg)
c.1208T>G (p.Met403Arg)
c.905T>G (p.Met302Arg)
c.1352T>G (p.Met451Arg)
c.1445T>G (p.Met482Arg)
7g.99760880A>GCA4369492CYP3A4c.1448T>C (p.Met483Thr)
n.790T>C
c.1355T>C (p.Met452Thr)
c.896T>C (p.Met299Thr)
c.1208T>C (p.Met403Thr)
c.905T>C (p.Met302Thr)
c.1352T>C (p.Met451Thr)
c.1445T>C (p.Met482Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760880A>TCA368367751CYP3A4c.1448T>A (p.Met483Lys)
n.790T>A
c.1355T>A (p.Met452Lys)
c.896T>A (p.Met299Lys)
c.1208T>A (p.Met403Lys)
c.905T>A (p.Met302Lys)
c.1352T>A (p.Met451Lys)
c.1445T>A (p.Met482Lys)
7g.99760881T>ACA4369493CYP3A4c.1447A>T (p.Met483Leu)
n.789A>T
c.1354A>T (p.Met452Leu)
c.895A>T (p.Met299Leu)
c.1207A>T (p.Met403Leu)
c.904A>T (p.Met302Leu)
c.1351A>T (p.Met451Leu)
c.1444A>T (p.Met482Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760881T>CCA368368551CYP3A4c.1447A>G (p.Met483Val)
n.789A>G
c.1354A>G (p.Met452Val)
c.895A>G (p.Met299Val)
c.1207A>G (p.Met403Val)
c.904A>G (p.Met302Val)
c.1351A>G (p.Met451Val)
c.1444A>G (p.Met482Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.99760881T>GCA368368552CYP3A4c.1447A>C (p.Met483Leu)
n.789A>C
c.1354A>C (p.Met452Leu)
c.895A>C (p.Met299Leu)
c.1207A>C (p.Met403Leu)
c.904A>C (p.Met302Leu)
c.1351A>C (p.Met451Leu)
c.1444A>C (p.Met482Leu)
7g.99760881T=CA1729176758CYP3A4c.1447A= (p.Met483=)
n.789A=
c.1354A= (p.Met452=)
c.895A= (p.Met299=)
c.1207A= (p.Met403=)
c.904A= (p.Met302=)
c.1351A= (p.Met451=)
c.1444A= (p.Met482=)
7g.99760882G>ACA4369494CYP3A4c.1446C>T (p.Asn482=)
n.788C>T
c.1353C>T (p.Asn451=)
c.894C>T (p.Asn298=)
c.1206C>T (p.Asn402=)
c.903C>T (p.Asn301=)
c.1350C>T (p.Asn450=)
c.1443C>T (p.Asn481=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760882G>CCA368368553CYP3A4c.1446C>G (p.Asn482Lys)
n.788C>G
c.1353C>G (p.Asn451Lys)
c.894C>G (p.Asn298Lys)
c.1206C>G (p.Asn402Lys)
c.903C>G (p.Asn301Lys)
c.1350C>G (p.Asn450Lys)
c.1443C>G (p.Asn481Lys)
7g.99760882G=CA1729176759CYP3A4c.1446C= (p.Asn482=)
n.788C=
c.1353C= (p.Asn451=)
c.894C= (p.Asn298=)
c.1206C= (p.Asn402=)
c.903C= (p.Asn301=)
c.1350C= (p.Asn450=)
c.1443C= (p.Asn481=)
7g.99760882G>TCA368368554CYP3A4c.1446C>A (p.Asn482Lys)
n.788C>A
c.1353C>A (p.Asn451Lys)
c.894C>A (p.Asn298Lys)
c.1206C>A (p.Asn402Lys)
c.903C>A (p.Asn301Lys)
c.1350C>A (p.Asn450Lys)
c.1443C>A (p.Asn481Lys)
7g.99760883T>ACA368368555CYP3A4c.1445A>T (p.Asn482Ile)
n.787A>T
c.1352A>T (p.Asn451Ile)
c.893A>T (p.Asn298Ile)
c.1205A>T (p.Asn402Ile)
c.902A>T (p.Asn301Ile)
c.1349A>T (p.Asn450Ile)
c.1442A>T (p.Asn481Ile)
7g.99760883T>CCA368368557CYP3A4c.1445A>G (p.Asn482Ser)
n.787A>G
c.1352A>G (p.Asn451Ser)
c.893A>G (p.Asn298Ser)
c.1205A>G (p.Asn402Ser)
c.902A>G (p.Asn301Ser)
c.1349A>G (p.Asn450Ser)
c.1442A>G (p.Asn481Ser)
dbSNP gnomAD v4
7g.99760883T>GCA368368556CYP3A4c.1445A>C (p.Asn482Thr)
n.787A>C
c.1352A>C (p.Asn451Thr)
c.893A>C (p.Asn298Thr)
c.1205A>C (p.Asn402Thr)
c.902A>C (p.Asn301Thr)
c.1349A>C (p.Asn450Thr)
c.1442A>C (p.Asn481Thr)
gnomAD v4
7g.99760883T=CA1729176760CYP3A4c.1445A= (p.Asn482=)
n.787A=
c.1352A= (p.Asn451=)
c.893A= (p.Asn298=)
c.1205A= (p.Asn402=)
c.902A= (p.Asn301=)
c.1349A= (p.Asn450=)
c.1442A= (p.Asn481=)
7g.99760884T>ACA368368558CYP3A4c.1444A>T (p.Asn482Tyr)
n.786A>T
c.1351A>T (p.Asn451Tyr)
c.892A>T (p.Asn298Tyr)
c.1204A>T (p.Asn402Tyr)
c.901A>T (p.Asn301Tyr)
c.1348A>T (p.Asn450Tyr)
c.1441A>T (p.Asn481Tyr)
7g.99760884T>CCA368368559CYP3A4c.1444A>G (p.Asn482Asp)
n.786A>G
c.1351A>G (p.Asn451Asp)
c.892A>G (p.Asn298Asp)
c.1204A>G (p.Asn402Asp)
c.901A>G (p.Asn301Asp)
c.1348A>G (p.Asn450Asp)
c.1441A>G (p.Asn481Asp)
7g.99760884T>GCA368368560CYP3A4c.1444A>C (p.Asn482His)
n.786A>C
c.1351A>C (p.Asn451His)
c.892A>C (p.Asn298His)
c.1204A>C (p.Asn402His)
c.901A>C (p.Asn301His)
c.1348A>C (p.Asn450His)
c.1441A>C (p.Asn481His)
7g.99760885C>ACA368368561CYP3A4c.1443G>T (p.Met481Ile)
n.785G>T
c.1350G>T (p.Met450Ile)
c.891G>T (p.Met297Ile)
c.1203G>T (p.Met401Ile)
c.900G>T (p.Met300Ile)
c.1347G>T (p.Met449Ile)
c.1440G>T (p.Met480Ile)
7g.99760885C>GCA368368562CYP3A4c.1443G>C (p.Met481Ile)
n.785G>C
c.1350G>C (p.Met450Ile)
c.891G>C (p.Met297Ile)
c.1203G>C (p.Met401Ile)
c.900G>C (p.Met300Ile)
c.1347G>C (p.Met449Ile)
c.1440G>C (p.Met480Ile)
7g.99760885C>TCA368368563CYP3A4c.1443G>A (p.Met481Ile)
n.785G>A
c.1350G>A (p.Met450Ile)
c.891G>A (p.Met297Ile)
c.1203G>A (p.Met401Ile)
c.900G>A (p.Met300Ile)
c.1347G>A (p.Met449Ile)
c.1440G>A (p.Met480Ile)
dbSNP
7g.99760886A=CA1729176761CYP3A4c.1442T= (p.Met481=)
n.784T=
c.1349T= (p.Met450=)
c.890T= (p.Met297=)
c.1202T= (p.Met401=)
c.899T= (p.Met300=)
c.1346T= (p.Met449=)
c.1439T= (p.Met480=)
7g.99760886A>CCA368368564CYP3A4c.1442T>G (p.Met481Arg)
n.784T>G
c.1349T>G (p.Met450Arg)
c.890T>G (p.Met297Arg)
c.1202T>G (p.Met401Arg)
c.899T>G (p.Met300Arg)
c.1346T>G (p.Met449Arg)
c.1439T>G (p.Met480Arg)
7g.99760886A>GCA4369495CYP3A4c.1442T>C (p.Met481Thr)
n.784T>C
c.1349T>C (p.Met450Thr)
c.890T>C (p.Met297Thr)
c.1202T>C (p.Met401Thr)
c.899T>C (p.Met300Thr)
c.1346T>C (p.Met449Thr)
c.1439T>C (p.Met480Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760886A>TCA368368565CYP3A4c.1442T>A (p.Met481Lys)
n.784T>A
c.1349T>A (p.Met450Lys)
c.890T>A (p.Met297Lys)
c.1202T>A (p.Met401Lys)
c.899T>A (p.Met300Lys)
c.1346T>A (p.Met449Lys)
c.1439T>A (p.Met480Lys)
7g.99760887T>ACA368368566CYP3A4c.1441A>T (p.Met481Leu)
n.783A>T
c.1348A>T (p.Met450Leu)
c.889A>T (p.Met297Leu)
c.1201A>T (p.Met401Leu)
c.898A>T (p.Met300Leu)
c.1345A>T (p.Met449Leu)
c.1438A>T (p.Met480Leu)
7g.99760887T>CCA4369496CYP3A4c.1441A>G (p.Met481Val)
n.783A>G
c.1348A>G (p.Met450Val)
c.889A>G (p.Met297Val)
c.1201A>G (p.Met401Val)
c.898A>G (p.Met300Val)
c.1345A>G (p.Met449Val)
c.1438A>G (p.Met480Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99760887T>GCA368368567CYP3A4c.1441A>C (p.Met481Leu)
n.783A>C
c.1348A>C (p.Met450Leu)
c.889A>C (p.Met297Leu)
c.1201A>C (p.Met401Leu)
c.898A>C (p.Met300Leu)
c.1345A>C (p.Met449Leu)
c.1438A>C (p.Met480Leu)
gnomAD v3 gnomAD v4
7g.99760887T=CA1729176762CYP3A4c.1441A= (p.Met481=)
n.783A=
c.1348A= (p.Met450=)
c.889A= (p.Met297=)
c.1201A= (p.Met401=)
c.898A= (p.Met300=)
c.1345A= (p.Met449=)
c.1438A= (p.Met480=)
7g.99760888G>ACA456686586CYP3A4c.1440C>T (p.Leu480=)
n.782C>T
c.1347C>T (p.Leu449=)
c.888C>T (p.Leu296=)
c.1200C>T (p.Leu400=)
c.897C>T (p.Leu299=)
c.1344C>T (p.Leu448=)
c.1437C>T (p.Leu479=)
7g.99760888G>CCA456686587CYP3A4c.1440C>G (p.Leu480=)
n.782C>G
c.1347C>G (p.Leu449=)
c.888C>G (p.Leu296=)
c.1200C>G (p.Leu400=)
c.897C>G (p.Leu299=)
c.1344C>G (p.Leu448=)
c.1437C>G (p.Leu479=)
7g.99760888G>TCA456686588CYP3A4c.1440C>A (p.Leu480=)
n.782C>A
c.1347C>A (p.Leu449=)
c.888C>A (p.Leu296=)
c.1200C>A (p.Leu400=)
c.897C>A (p.Leu299=)
c.1344C>A (p.Leu448=)
c.1437C>A (p.Leu479=)
7g.99760889A>CCA368368568CYP3A4c.1439T>G (p.Leu480Arg)
n.781T>G
c.1346T>G (p.Leu449Arg)
c.887T>G (p.Leu296Arg)
c.1199T>G (p.Leu400Arg)
c.896T>G (p.Leu299Arg)
c.1343T>G (p.Leu448Arg)
c.1436T>G (p.Leu479Arg)
7g.99760889A>GCA368368570CYP3A4c.1439T>C (p.Leu480Pro)
n.781T>C
c.1346T>C (p.Leu449Pro)
c.887T>C (p.Leu296Pro)
c.1199T>C (p.Leu400Pro)
c.896T>C (p.Leu299Pro)
c.1343T>C (p.Leu448Pro)
c.1436T>C (p.Leu479Pro)
gnomAD v4
7g.99760889A>TCA368368569CYP3A4c.1439T>A (p.Leu480His)
n.781T>A
c.1346T>A (p.Leu449His)
c.887T>A (p.Leu296His)
c.1199T>A (p.Leu400His)
c.896T>A (p.Leu299His)
c.1343T>A (p.Leu448His)
c.1436T>A (p.Leu479His)
7g.99760890G>ACA4369497CYP3A4c.1438C>T (p.Leu480Phe)
n.780C>T
c.1345C>T (p.Leu449Phe)
c.886C>T (p.Leu296Phe)
c.1198C>T (p.Leu400Phe)
c.895C>T (p.Leu299Phe)
c.1342C>T (p.Leu448Phe)
c.1435C>T (p.Leu479Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99760890G>CCA368368571CYP3A4c.1438C>G (p.Leu480Val)
n.780C>G
c.1345C>G (p.Leu449Val)
c.886C>G (p.Leu296Val)
c.1198C>G (p.Leu400Val)
c.895C>G (p.Leu299Val)
c.1342C>G (p.Leu448Val)
c.1435C>G (p.Leu479Val)
7g.99760890G=CA1729176763CYP3A4c.1438C= (p.Leu480=)
n.780C=
c.1345C= (p.Leu449=)
c.886C= (p.Leu296=)
c.1198C= (p.Leu400=)
c.895C= (p.Leu299=)
c.1342C= (p.Leu448=)
c.1435C= (p.Leu479=)
7g.99760890G>TCA368368572CYP3A4c.1438C>A (p.Leu480Ile)
n.780C>A
c.1345C>A (p.Leu449Ile)
c.886C>A (p.Leu296Ile)
c.1198C>A (p.Leu400Ile)
c.895C>A (p.Leu299Ile)
c.1342C>A (p.Leu448Ile)
c.1435C>A (p.Leu479Ile)
7g.99760891A=CA1729176764CYP3A4c.1437T= (p.Ala479=)
n.779T=
c.1344T= (p.Ala448=)
c.885T= (p.Ala295=)
c.1197T= (p.Ala399=)
c.894T= (p.Ala298=)
c.1341T= (p.Ala447=)
c.1434T= (p.Ala478=)
7g.99760891A>CCA456686592CYP3A4c.1437T>G (p.Ala479=)
n.779T>G
c.1344T>G (p.Ala448=)
c.885T>G (p.Ala295=)
c.1197T>G (p.Ala399=)
c.894T>G (p.Ala298=)
c.1341T>G (p.Ala447=)
c.1434T>G (p.Ala478=)
7g.99760891A>GCA456686593CYP3A4c.1437T>C (p.Ala479=)
n.779T>C
c.1344T>C (p.Ala448=)
c.885T>C (p.Ala295=)
c.1197T>C (p.Ala399=)
c.894T>C (p.Ala298=)
c.1341T>C (p.Ala447=)
c.1434T>C (p.Ala478=)
dbSNP gnomAD v3 gnomAD v4
7g.99760891A>TCA456686594CYP3A4c.1437T>A (p.Ala479=)
n.779T>A
c.1344T>A (p.Ala448=)
c.885T>A (p.Ala295=)
c.1197T>A (p.Ala399=)
c.894T>A (p.Ala298=)
c.1341T>A (p.Ala447=)
c.1434T>A (p.Ala478=)
7g.99760892G>ACA368368573CYP3A4c.1436C>T (p.Ala479Val)
n.778C>T
c.1343C>T (p.Ala448Val)
c.884C>T (p.Ala295Val)
c.1196C>T (p.Ala399Val)
c.893C>T (p.Ala298Val)
c.1340C>T (p.Ala447Val)
c.1433C>T (p.Ala478Val)
dbSNP
7g.99760892G>CCA368368574CYP3A4c.1436C>G (p.Ala479Gly)
n.778C>G
c.1343C>G (p.Ala448Gly)
c.884C>G (p.Ala295Gly)
c.1196C>G (p.Ala399Gly)
c.893C>G (p.Ala298Gly)
c.1340C>G (p.Ala447Gly)
c.1433C>G (p.Ala478Gly)
7g.99760892G>TCA368368575CYP3A4c.1436C>A (p.Ala479Asp)
n.778C>A
c.1343C>A (p.Ala448Asp)
c.884C>A (p.Ala295Asp)
c.1196C>A (p.Ala399Asp)
c.893C>A (p.Ala298Asp)
c.1340C>A (p.Ala447Asp)
c.1433C>A (p.Ala478Asp)
7g.99760893C>ACA368368578CYP3A4c.1435G>T (p.Ala479Ser)
n.777G>T
c.1342G>T (p.Ala448Ser)
c.883G>T (p.Ala295Ser)
c.1195G>T (p.Ala399Ser)
c.892G>T (p.Ala298Ser)
c.1339G>T (p.Ala447Ser)
c.1432G>T (p.Ala478Ser)
dbSNP
7g.99760893C=CA1729176765CYP3A4c.1435G= (p.Ala479=)
n.777G=
c.1342G= (p.Ala448=)
c.883G= (p.Ala295=)
c.1195G= (p.Ala399=)
c.892G= (p.Ala298=)
c.1339G= (p.Ala447=)
c.1432G= (p.Ala478=)
7g.99760893C>GCA368368576CYP3A4c.1435G>C (p.Ala479Pro)
n.777G>C
c.1342G>C (p.Ala448Pro)
c.883G>C (p.Ala295Pro)
c.1195G>C (p.Ala399Pro)
c.892G>C (p.Ala298Pro)
c.1339G>C (p.Ala447Pro)
c.1432G>C (p.Ala478Pro)
7g.99760893C>TCA368368577CYP3A4c.1435G>A (p.Ala479Thr)
n.777G>A
c.1342G>A (p.Ala448Thr)
c.883G>A (p.Ala295Thr)
c.1195G>A (p.Ala399Thr)
c.892G>A (p.Ala298Thr)
c.1339G>A (p.Ala447Thr)
c.1432G>A (p.Ala478Thr)
7g.99760894A=CA1729176766CYP3A4c.1434T= (p.Phe478=)
n.776T=
c.1341T= (p.Phe447=)
c.882T= (p.Phe294=)
c.1194T= (p.Phe398=)
c.891T= (p.Phe297=)
c.1338T= (p.Phe446=)
c.1431T= (p.Phe477=)
7g.99760894A>CCA368368579CYP3A4c.1434T>G (p.Phe478Leu)
n.776T>G
c.1341T>G (p.Phe447Leu)
c.882T>G (p.Phe294Leu)
c.1194T>G (p.Phe398Leu)
c.891T>G (p.Phe297Leu)
c.1338T>G (p.Phe446Leu)
c.1431T>G (p.Phe477Leu)
7g.99760894A>GCA456686596CYP3A4c.1434T>C (p.Phe478=)
n.776T>C
c.1341T>C (p.Phe447=)
c.882T>C (p.Phe294=)
c.1194T>C (p.Phe398=)
c.891T>C (p.Phe297=)
c.1338T>C (p.Phe446=)
c.1431T>C (p.Phe477=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99760894A>TCA368368580CYP3A4c.1434T>A (p.Phe478Leu)
n.776T>A
c.1341T>A (p.Phe447Leu)
c.882T>A (p.Phe294Leu)
c.1194T>A (p.Phe398Leu)
c.891T>A (p.Phe297Leu)
c.1338T>A (p.Phe446Leu)
c.1431T>A (p.Phe477Leu)
7g.99760895A>CCA368368581CYP3A4c.1433T>G (p.Phe478Cys)
n.775T>G
c.1340T>G (p.Phe447Cys)
c.881T>G (p.Phe294Cys)
c.1193T>G (p.Phe398Cys)
c.890T>G (p.Phe297Cys)
c.1337T>G (p.Phe446Cys)
c.1430T>G (p.Phe477Cys)
7g.99760895A>GCA368368582CYP3A4c.1433T>C (p.Phe478Ser)
n.775T>C
c.1340T>C (p.Phe447Ser)
c.881T>C (p.Phe294Ser)
c.1193T>C (p.Phe398Ser)
c.890T>C (p.Phe297Ser)
c.1337T>C (p.Phe446Ser)
c.1430T>C (p.Phe477Ser)
7g.99760895A>TCA368368583CYP3A4c.1433T>A (p.Phe478Tyr)
n.775T>A
c.1340T>A (p.Phe447Tyr)
c.881T>A (p.Phe294Tyr)
c.1193T>A (p.Phe398Tyr)
c.890T>A (p.Phe297Tyr)
c.1337T>A (p.Phe446Tyr)
c.1430T>A (p.Phe477Tyr)
7g.99760896A>CCA368368584CYP3A4c.1432T>G (p.Phe478Val)
n.774T>G
c.1339T>G (p.Phe447Val)
c.880T>G (p.Phe294Val)
c.1192T>G (p.Phe398Val)
c.889T>G (p.Phe297Val)
c.1336T>G (p.Phe446Val)
c.1429T>G (p.Phe477Val)
gnomAD v4
7g.99760896A>GCA368368586CYP3A4c.1432T>C (p.Phe478Leu)
n.774T>C
c.1339T>C (p.Phe447Leu)
c.880T>C (p.Phe294Leu)
c.1192T>C (p.Phe398Leu)
c.889T>C (p.Phe297Leu)
c.1336T>C (p.Phe446Leu)
c.1429T>C (p.Phe477Leu)
7g.99760896A>TCA368368585CYP3A4c.1432T>A (p.Phe478Ile)
n.774T>A
c.1339T>A (p.Phe447Ile)
c.880T>A (p.Phe294Ile)
c.1192T>A (p.Phe398Ile)
c.889T>A (p.Phe297Ile)
c.1336T>A (p.Phe446Ile)
c.1429T>A (p.Phe477Ile)
7g.99760897C>ACA368368587CYP3A4c.1431G>T (p.Arg477Ser)
n.773G>T
c.1338G>T (p.Arg446Ser)
c.879G>T (p.Arg293Ser)
c.1191G>T (p.Arg397Ser)
c.888G>T (p.Arg296Ser)
c.1335G>T (p.Arg445Ser)
c.1428G>T (p.Arg476Ser)
gnomAD v4
7g.99760897C>GCA368368588CYP3A4c.1431G>C (p.Arg477Ser)
n.773G>C
c.1338G>C (p.Arg446Ser)
c.879G>C (p.Arg293Ser)
c.1191G>C (p.Arg397Ser)
c.888G>C (p.Arg296Ser)
c.1335G>C (p.Arg445Ser)
c.1428G>C (p.Arg476Ser)
7g.99760897C>TCA456686598CYP3A4c.1431G>A (p.Arg477=)
n.773G>A
c.1338G>A (p.Arg446=)
c.879G>A (p.Arg293=)
c.1191G>A (p.Arg397=)
c.888G>A (p.Arg296=)
c.1335G>A (p.Arg445=)
c.1428G>A (p.Arg476=)
gnomAD v4
7g.99760898C>ACA368368589CYP3A4c.1430G>T (p.Arg477Met)
n.772G>T
c.1337G>T (p.Arg446Met)
c.878G>T (p.Arg293Met)
c.1190G>T (p.Arg397Met)
c.887G>T (p.Arg296Met)
c.1334G>T (p.Arg445Met)
c.1427G>T (p.Arg476Met)
7g.99760898C=CA1729176767CYP3A4c.1430G= (p.Arg477=)
n.772G=
c.1337G= (p.Arg446=)
c.878G= (p.Arg293=)
c.1190G= (p.Arg397=)
c.887G= (p.Arg296=)
c.1334G= (p.Arg445=)
c.1427G= (p.Arg476=)
7g.99760898C>GCA368368590CYP3A4c.1430G>C (p.Arg477Thr)
n.772G>C
c.1337G>C (p.Arg446Thr)
c.878G>C (p.Arg293Thr)
c.1190G>C (p.Arg397Thr)
c.887G>C (p.Arg296Thr)
c.1334G>C (p.Arg445Thr)
c.1427G>C (p.Arg476Thr)
7g.99760898C>TCA163151140CYP3A4c.1430G>A (p.Arg477Lys)
n.772G>A
c.1337G>A (p.Arg446Lys)
c.878G>A (p.Arg293Lys)
c.1190G>A (p.Arg397Lys)
c.887G>A (p.Arg296Lys)
c.1334G>A (p.Arg445Lys)
c.1427G>A (p.Arg476Lys)
dbSNP COSMIC
7g.99760899T>ACA368368591CYP3A4c.1429A>T (p.Arg477Trp)
n.771A>T
c.1336A>T (p.Arg446Trp)
c.877A>T (p.Arg293Trp)
c.1189A>T (p.Arg397Trp)
c.886A>T (p.Arg296Trp)
c.1333A>T (p.Arg445Trp)
c.1426A>T (p.Arg476Trp)
7g.99760899T>CCA368368592CYP3A4c.1429A>G (p.Arg477Gly)
n.771A>G
c.1336A>G (p.Arg446Gly)
c.877A>G (p.Arg293Gly)
c.1189A>G (p.Arg397Gly)
c.886A>G (p.Arg296Gly)
c.1333A>G (p.Arg445Gly)
c.1426A>G (p.Arg476Gly)
7g.99760899T>GCA456686602CYP3A4c.1429A>C (p.Arg477=)
n.771A>C
c.1336A>C (p.Arg446=)
c.877A>C (p.Arg293=)
c.1189A>C (p.Arg397=)
c.886A>C (p.Arg296=)
c.1333A>C (p.Arg445=)
c.1426A>C (p.Arg476=)

Number of alleles fetched