Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38071134G>ACA1619834CYP1B1c.1220C>T (p.Thr407Ile)
n.598C>T
c.107C>T (p.Thr36Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.38071134G>CCA346327612CYP1B1c.1220C>G (p.Thr407Ser)
n.598C>G
c.107C>G (p.Thr36Ser)
gnomAD v4
2g.38071134G=CA1245626136CYP1B1c.1220C= (p.Thr407=)
n.598C=
c.107C= (p.Thr36=)
2g.38071134G>TCA346327613CYP1B1c.1220C>A (p.Thr407Asn)
n.598C>A
c.107C>A (p.Thr36Asn)
dbSNP gnomAD v3 gnomAD v4
2g.38071135T>ACA346327615CYP1B1c.1219A>T (p.Thr407Ser)
n.597A>T
c.106A>T (p.Thr36Ser)
2g.38071135T>CCA1619835CYP1B1c.1219A>G (p.Thr407Ala)
n.597A>G
c.106A>G (p.Thr36Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.38071135T>GCA346327614CYP1B1c.1219A>C (p.Thr407Pro)
n.597A>C
c.106A>C (p.Thr36Pro)
2g.38071135T=CA1245626137CYP1B1c.1219A= (p.Thr407=)
n.597A=
c.106A= (p.Thr36=)
2g.38071136G>ACA425864565CYP1B1c.1218C>T (p.Asn406=)
n.596C>T
c.105C>T (p.Asn35=)
2g.38071136G>CCA346327616CYP1B1c.1218C>G (p.Asn406Lys)
n.596C>G
c.105C>G (p.Asn35Lys)
2g.38071136G>TCA346327617CYP1B1c.1218C>A (p.Asn406Lys)
n.596C>A
c.105C>A (p.Asn35Lys)
2g.38071137T>ACA346327618CYP1B1c.1217A>T (p.Asn406Ile)
n.595A>T
c.104A>T (p.Asn35Ile)
gnomAD v4
2g.38071137T>CCA346327619CYP1B1c.1217A>G (p.Asn406Ser)
n.595A>G
c.104A>G (p.Asn35Ser)
2g.38071137T>GCA346327620CYP1B1c.1217A>C (p.Asn406Thr)
n.595A>C
c.104A>C (p.Asn35Thr)
dbSNP
2g.38071137T=CA1245626138CYP1B1c.1217A= (p.Asn406=)
n.595A=
c.104A= (p.Asn35=)
2g.38071138T>ACA346327621CYP1B1c.1216A>T (p.Asn406Tyr)
n.594A>T
c.103A>T (p.Asn35Tyr)
2g.38071138T>CCA346327623CYP1B1c.1216A>G (p.Asn406Asp)
n.594A>G
c.103A>G (p.Asn35Asp)
2g.38071138T>GCA346327622CYP1B1c.1216A>C (p.Asn406His)
n.594A>C
c.103A>C (p.Asn35His)
dbSNP
2g.38071139G>ACA425864569CYP1B1c.1215C>T (p.Ala405=)
n.593C>T
c.102C>T (p.Ala34=)
2g.38071139G>CCA425864566CYP1B1c.1215C>G (p.Ala405=)
n.593C>G
c.102C>G (p.Ala34=)
2g.38071139G>TCA425864567CYP1B1c.1215C>A (p.Ala405=)
n.593C>A
c.102C>A (p.Ala34=)
gnomAD v4
2g.38071140G>ACA1619836CYP1B1c.1214C>T (p.Ala405Val)
n.592C>T
c.101C>T (p.Ala34Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38071140G>CCA346327624CYP1B1c.1214C>G (p.Ala405Gly)
n.592C>G
c.101C>G (p.Ala34Gly)
2g.38071140G=CA1245626139CYP1B1c.1214C= (p.Ala405=)
n.592C=
c.101C= (p.Ala34=)
2g.38071140G>TCA346327625CYP1B1c.1214C>A (p.Ala405Asp)
n.592C>A
c.101C>A (p.Ala34Asp)
2g.38071141C>ACA346327626CYP1B1c.1213G>T (p.Ala405Ser)
n.591G>T
c.100G>T (p.Ala34Ser)
2g.38071141C=CA1245626140CYP1B1c.1213G= (p.Ala405=)
n.591G=
c.100G= (p.Ala34=)
2g.38071141C>GCA346327627CYP1B1c.1213G>C (p.Ala405Pro)
n.591G>C
c.100G>C (p.Ala34Pro)
2g.38071141C>TCA1619837CYP1B1c.1213G>A (p.Ala405Thr)
n.591G>A
c.100G>A (p.Ala34Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38071142A>CCA425864571CYP1B1c.1212T>G (p.Thr404=)
n.590T>G
c.99T>G (p.Thr33=)
2g.38071142A>GCA425864572CYP1B1c.1212T>C (p.Thr404=)
n.590T>C
c.99T>C (p.Thr33=)
2g.38071142A>TCA425864573CYP1B1c.1212T>A (p.Thr404=)
n.590T>A
c.99T>A (p.Thr33=)
2g.38071143G>ACA346327628CYP1B1c.1211C>T (p.Thr404Ile)
n.589C>T
c.98C>T (p.Thr33Ile)
dbSNP
2g.38071143G>CCA346327629CYP1B1c.1211C>G (p.Thr404Ser)
n.589C>G
c.98C>G (p.Thr33Ser)
2g.38071143G=CA1245626141CYP1B1c.1211C= (p.Thr404=)
n.589C=
c.98C= (p.Thr33=)
2g.38071143G>TCA346327630CYP1B1c.1211C>A (p.Thr404Asn)
n.589C>A
c.98C>A (p.Thr33Asn)
2g.38071144_38071145delCA2658667729CYP1B1c.1210_1211del (p.Thr404CysfsTer26)
n.588_589del
c.97_98del (p.Thr33CysfsTer26)
gnomAD v4
2g.38071144_38071153dupCA2586969066CYP1B1c.1202_1211dup (p.Ala405CysfsTer29)
n.580_589dup
c.89_98dup (p.Ala34CysfsTer29)
2g.38071144T>ACA346327631CYP1B1c.1210A>T (p.Thr404Ser)
n.588A>T
c.97A>T (p.Thr33Ser)
dbSNP gnomAD v2
2g.38071144T>CCA346327632CYP1B1c.1210A>G (p.Thr404Ala)
n.588A>G
c.97A>G (p.Thr33Ala)
2g.38071144T>GCA346327633CYP1B1c.1210A>C (p.Thr404Pro)
n.588A>C
c.97A>C (p.Thr33Pro)
2g.38071144T=CA1245626143CYP1B1c.1210A= (p.Thr404=)
n.588A=
c.97A= (p.Thr33=)
2g.38071144dupCA768462386CYP1B1c.1210dup (p.Thr404AsnfsTer27)
n.588dup
c.97dup (p.Thr33AsnfsTer27)
dbSNP
2g.38071144_38071154delinsTGGTGGCATGACA1245626142CYP1B1c.1200_1210delinsTCATGCCACCA (p.Pro400=)
n.578_588delinsTCATGCCACCA
c.87_97delinsTCATGCCACCA (p.Pro29=)
2g.38071145G>ACA425864574CYP1B1c.1209C>T (p.Thr403=)
n.587C>T
c.96C>T (p.Thr32=)
dbSNP gnomAD v3 gnomAD v4
2g.38071145G>CCA425864576CYP1B1c.1209C>G (p.Thr403=)
n.587C>G
c.96C>G (p.Thr32=)
2g.38071145G=CA1245626144CYP1B1c.1209C= (p.Thr403=)
n.587C=
c.96C= (p.Thr32=)
2g.38071145G>TCA425864578CYP1B1c.1209C>A (p.Thr403=)
n.587C>A
c.96C>A (p.Thr32=)
2g.38071147_38071156dupCA145181CYP1B1c.1200_1209dup (p.Thr404SerfsTer30)
n.578_587dup
c.87_96dup (p.Thr33SerfsTer30)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.38071145_38071156dupCA2586969067CYP1B1c.1198_1209dup (p.Thr403_Thr404insProHisAlaThr)
n.576_587dup
c.85_96dup (p.Thr32_Thr33insProHisAlaThr)

Number of alleles fetched