Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
2g.38071147_38071156delCA45506498CYP1B1c.1200_1209del (p.His401LeufsTer24)
n.578_587del
c.87_96del (p.His30LeufsTer24)
dbSNP
2g.38071146G>ACA346327635CYP1B1c.1208C>T (p.Thr403Ile)
n.586C>T
c.95C>T (p.Thr32Ile)
dbSNP
2g.38071146G>CCA346327634CYP1B1c.1208C>G (p.Thr403Ser)
n.586C>G
c.95C>G (p.Thr32Ser)
2g.38071146G=CA1245626145CYP1B1c.1208C= (p.Thr403=)
n.586C=
c.95C= (p.Thr32=)
2g.38071146G>TCA346327636CYP1B1c.1208C>A (p.Thr403Asn)
n.586C>A
c.95C>A (p.Thr32Asn)
2g.38071147T>ACA346327637CYP1B1c.1207A>T (p.Thr403Ser)
n.585A>T
c.94A>T (p.Thr32Ser)
2g.38071147T>CCA346327638CYP1B1c.1207A>G (p.Thr403Ala)
n.585A>G
c.94A>G (p.Thr32Ala)
2g.38071147T>GCA346327639CYP1B1c.1207A>C (p.Thr403Pro)
n.585A>C
c.94A>C (p.Thr32Pro)
2g.38071148G>ACA425864581CYP1B1c.1206C>T (p.Ala402=)
n.584C>T
c.93C>T (p.Ala31=)
dbSNP gnomAD v2 gnomAD v4
2g.38071148G>CCA425864582CYP1B1c.1206C>G (p.Ala402=)
n.584C>G
c.93C>G (p.Ala31=)
2g.38071148G=CA1245626146CYP1B1c.1206C= (p.Ala402=)
n.584C=
c.93C= (p.Ala31=)
2g.38071148G>TCA425864583CYP1B1c.1206C>A (p.Ala402=)
n.584C>A
c.93C>A (p.Ala31=)
2g.38071149G>ACA346327640CYP1B1c.1205C>T (p.Ala402Val)
n.583C>T
c.92C>T (p.Ala31Val)
dbSNP gnomAD v2
2g.38071149G>CCA346327641CYP1B1c.1205C>G (p.Ala402Gly)
n.583C>G
c.92C>G (p.Ala31Gly)
2g.38071149G=CA1245626147CYP1B1c.1205C= (p.Ala402=)
n.583C=
c.92C= (p.Ala31=)
2g.38071149G>TCA346327642CYP1B1c.1205C>A (p.Ala402Asp)
n.583C>A
c.92C>A (p.Ala31Asp)
gnomAD v4
2g.38071150C>ACA346327644CYP1B1c.1204G>T (p.Ala402Ser)
n.582G>T
c.91G>T (p.Ala31Ser)
2g.38071150C=CA1245626148CYP1B1c.1204G= (p.Ala402=)
n.582G=
c.91G= (p.Ala31=)
2g.38071150C>GCA45506501CYP1B1c.1204G>C (p.Ala402Pro)
n.582G>C
c.91G>C (p.Ala31Pro)
dbSNP gnomAD v4
2g.38071150C>TCA346327643CYP1B1c.1204G>A (p.Ala402Thr)
n.582G>A
c.91G>A (p.Ala31Thr)
gnomAD v4
2g.38071151A>CCA346327645CYP1B1c.1203T>G (p.His401Gln)
n.581T>G
c.90T>G (p.His30Gln)
2g.38071151A>GCA425864587CYP1B1c.1203T>C (p.His401=)
n.581T>C
c.90T>C (p.His30=)
2g.38071151A>TCA346327646CYP1B1c.1203T>A (p.His401Gln)
n.581T>A
c.90T>A (p.His30Gln)
2g.38071152T>ACA346327647CYP1B1c.1202A>T (p.His401Leu)
n.580A>T
c.89A>T (p.His30Leu)
2g.38071152T>CCA10615175CYP1B1c.1202A>G (p.His401Arg)
n.580A>G
c.89A>G (p.His30Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.38071152T>GCA346327648CYP1B1c.1202A>C (p.His401Pro)
n.580A>C
c.89A>C (p.His30Pro)
dbSNP
2g.38071152T=CA1245626149CYP1B1c.1202A= (p.His401=)
n.580A=
c.89A= (p.His30=)
2g.38071153G>ACA346327649CYP1B1c.1201C>T (p.His401Tyr)
n.579C>T
c.88C>T (p.His30Tyr)
dbSNP gnomAD v3 gnomAD v4
2g.38071153G>CCA346327651CYP1B1c.1201C>G (p.His401Asp)
n.579C>G
c.88C>G (p.His30Asp)
2g.38071153G=CA1245626150CYP1B1c.1201C= (p.His401=)
n.579C=
c.88C= (p.His30=)
2g.38071153G>TCA346327650CYP1B1c.1201C>A (p.His401Asn)
n.579C>A
c.88C>A (p.His30Asn)
2g.38071154A>CCA425864591CYP1B1c.1200T>G (p.Pro400=)
n.578T>G
c.87T>G (p.Pro29=)
2g.38071154A>GCA425864593CYP1B1c.1200T>C (p.Pro400=)
n.578T>C
c.87T>C (p.Pro29=)
2g.38071154A>TCA425864589CYP1B1c.1200T>A (p.Pro400=)
n.578T>A
c.87T>A (p.Pro29=)
2g.38071156_38071161delCA2586969068CYP1B1c.1195_1200del (p.Ile399_Pro400del)
n.573_578del
c.82_87del (p.Ile28_Pro29del)
2g.38071155G>ACA346327652CYP1B1c.1199C>T (p.Pro400Leu)
n.577C>T
c.86C>T (p.Pro29Leu)
2g.38071155G>CCA346327653CYP1B1c.1199C>G (p.Pro400Arg)
n.577C>G
c.86C>G (p.Pro29Arg)
2g.38071155G>TCA346327654CYP1B1c.1199C>A (p.Pro400His)
n.577C>A
c.86C>A (p.Pro29His)
2g.38071156G>ACA1619838CYP1B1c.1198C>T (p.Pro400Ser)
n.576C>T
c.85C>T (p.Pro29Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.38071156G>CCA346327655CYP1B1c.1198C>G (p.Pro400Ala)
n.576C>G
c.85C>G (p.Pro29Ala)
2g.38071156G=CA1245626151CYP1B1c.1198C= (p.Pro400=)
n.576C=
c.85C= (p.Pro29=)

Number of alleles fetched