Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38071179G>ACA346327699CYP1B1c.1175C>T (p.Ser392Phe)
n.553C>T
c.62C>T (p.Ser21Phe)
n.570C>T
 gnomAD v4
2g.38071179G>CCA346327700CYP1B1c.1175C>G (p.Ser392Cys)
n.553C>G
c.62C>G (p.Ser21Cys)
n.570C>G
2g.38071179G>TCA346327701CYP1B1c.1175C>A (p.Ser392Tyr)
n.553C>A
c.62C>A (p.Ser21Tyr)
n.570C>A
2g.38071180A>CCA346327702CYP1B1c.1174T>G (p.Ser392Ala)
n.552T>G
c.61T>G (p.Ser21Ala)
n.569T>G
2g.38071180A>GCA346327704CYP1B1c.1174T>C (p.Ser392Pro)
n.552T>C
c.61T>C (p.Ser21Pro)
n.569T>C
2g.38071180A>TCA346327703CYP1B1c.1174T>A (p.Ser392Thr)
n.552T>A
c.61T>A (p.Ser21Thr)
n.569T>A
2g.38071181G>ACA1619845CYP1B1c.1173C>T (p.Phe391=)
n.551C>T
c.60C>T (p.Phe20=)
n.568C>T
 dbSNP ExAC gnomAD v2
2g.38071181G>CCA346327705CYP1B1c.1173C>G (p.Phe391Leu)
n.551C>G
c.60C>G (p.Phe20Leu)
n.568C>G
2g.38071181G=CA1245626163CYP1B1c.1173C= (p.Phe391=)
n.551C=
c.60C= (p.Phe20=)
n.568C=
2g.38071181G>TCA346327706CYP1B1c.1173C>A (p.Phe391Leu)
n.551C>A
c.60C>A (p.Phe20Leu)
n.568C>A
2g.38071182A>CCA346327707CYP1B1c.1172T>G (p.Phe391Cys)
n.550T>G
c.59T>G (p.Phe20Cys)
n.567T>G
2g.38071182A>GCA346327708CYP1B1c.1172T>C (p.Phe391Ser)
n.550T>C
c.59T>C (p.Phe20Ser)
n.567T>C
 gnomAD v4
2g.38071182A>TCA346327709CYP1B1c.1172T>A (p.Phe391Tyr)
n.550T>A
c.59T>A (p.Phe20Tyr)
n.567T>A
2g.38071183A>CCA346327710CYP1B1c.1171T>G (p.Phe391Val)
n.549T>G
c.58T>G (p.Phe20Val)
n.566T>G
2g.38071183A>GCA346327711CYP1B1c.1171T>C (p.Phe391Leu)
n.549T>C
c.58T>C (p.Phe20Leu)
n.566T>C
 gnomAD v4
2g.38071183A>TCA346327712CYP1B1c.1171T>A (p.Phe391Ile)
n.549T>A
c.58T>A (p.Phe20Ile)
n.566T>A
2g.38071184G>ACA425690746CYP1B1c.1170C>T (p.Arg390=)
n.548C>T
c.57C>T (p.Arg19=)
n.565C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38071184G>CCA425690747CYP1B1c.1170C>G (p.Arg390=)
n.548C>G
c.57C>G (p.Arg19=)
n.565C>G
2g.38071184G=CA1245626164CYP1B1c.1170C= (p.Arg390=)
n.548C=
c.57C= (p.Arg19=)
n.565C=
2g.38071184G>TCA425690748CYP1B1c.1170C>A (p.Arg390=)
n.548C>A
c.57C>A (p.Arg19=)
n.565C>A
2g.38071185C>ACA346327713CYP1B1c.1169G>T (p.Arg390Leu)
n.547G>T
c.56G>T (p.Arg19Leu)
n.564G>T
2g.38071185C=CA1245626165CYP1B1c.1169G= (p.Arg390=)
n.547G=
c.56G= (p.Arg19=)
n.564G=
2g.38071185C>GCA346327714CYP1B1c.1169G>C (p.Arg390Pro)
n.547G>C
c.56G>C (p.Arg19Pro)
n.564G>C
2g.38071185C>TCA1619846CYP1B1c.1169G>A (p.Arg390His)
n.547G>A
c.56G>A (p.Arg19His)
n.564G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38071186G>ACA1619847CYP1B1c.1168C>T (p.Arg390Cys)
n.546C>T
c.55C>T (p.Arg19Cys)
n.563C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38071186G>CCA346327715CYP1B1c.1168C>G (p.Arg390Gly)
n.546C>G
c.55C>G (p.Arg19Gly)
n.563C>G
 gnomAD v4 COSMIC
2g.38071186G=CA1245626166CYP1B1c.1168C= (p.Arg390=)
n.546C=
c.55C= (p.Arg19=)
n.563C=
2g.38071186G>TCA1619848CYP1B1c.1168C>A (p.Arg390Ser)
n.546C>A
c.55C>A (p.Arg19Ser)
n.563C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38071187C>ACA346327716CYP1B1c.1167G>T (p.Met389Ile)
n.545G>T
c.54G>T (p.Met18Ile)
n.562G>T
2g.38071187C=CA1245626167CYP1B1c.1167G= (p.Met389=)
n.545G=
c.54G= (p.Met18=)
n.562G=
2g.38071187C>GCA346327717CYP1B1c.1167G>C (p.Met389Ile)
n.545G>C
c.54G>C (p.Met18Ile)
n.562G>C
2g.38071187C>TCA45506579CYP1B1c.1167G>A (p.Met389Ile)
n.545G>A
c.54G>A (p.Met18Ile)
n.562G>A
 dbSNP gnomAD v2 gnomAD v4
2g.38071188A=CA1245626168CYP1B1c.1166T= (p.Met389=)
n.544T=
c.53T= (p.Met18=)
n.561T=
2g.38071188A>CCA346327718CYP1B1c.1166T>G (p.Met389Arg)
n.544T>G
c.53T>G (p.Met18Arg)
n.561T>G
2g.38071188A>GCA346327719CYP1B1c.1166T>C (p.Met389Thr)
n.544T>C
c.53T>C (p.Met18Thr)
n.561T>C
2g.38071188A>TCA346327720CYP1B1c.1166T>A (p.Met389Lys)
n.544T>A
c.53T>A (p.Met18Lys)
n.561T>A
 dbSNP gnomAD v3 gnomAD v4
2g.38071189T>ACA346327721CYP1B1c.1165A>T (p.Met389Leu)
n.543A>T
c.52A>T (p.Met18Leu)
n.560A>T
2g.38071189T>CCA346327722CYP1B1c.1165A>G (p.Met389Val)
n.543A>G
c.52A>G (p.Met18Val)
n.560A>G
 gnomAD v4
2g.38071189T>GCA346327723CYP1B1c.1165A>C (p.Met389Leu)
n.543A>C
c.52A>C (p.Met18Leu)
n.560A>C
2g.38071190G>ACA425690749CYP1B1c.1164C>T (p.Ala388=)
n.542C>T
c.51C>T (p.Ala17=)
n.559C>T
2g.38071190G>CCA425690750CYP1B1c.1164C>G (p.Ala388=)
n.542C>G
c.51C>G (p.Ala17=)
n.559C>G
2g.38071190G>TCA425690751CYP1B1c.1164C>A (p.Ala388=)
n.542C>A
c.51C>A (p.Ala17=)
n.559C>A
2g.38071191G>ACA346327724CYP1B1c.1163C>T (p.Ala388Val)
n.541C>T
c.50C>T (p.Ala17Val)
n.558C>T
2g.38071191G>CCA346327725CYP1B1c.1163C>G (p.Ala388Gly)
n.541C>G
c.50C>G (p.Ala17Gly)
n.558C>G
2g.38071191G>TCA346327726CYP1B1c.1163C>A (p.Ala388Asp)
n.541C>A
c.50C>A (p.Ala17Asp)
n.558C>A
2g.38071192C>ACA346327729CYP1B1c.1162G>T (p.Ala388Ser)
n.540G>T
c.49G>T (p.Ala17Ser)
n.557G>T
2g.38071192C>GCA346327728CYP1B1c.1162G>C (p.Ala388Pro)
n.540G>C
c.49G>C (p.Ala17Pro)
n.557G>C
2g.38071192C>TCA346327727CYP1B1c.1162G>A (p.Ala388Thr)
n.540G>A
c.49G>A (p.Ala17Thr)
n.557G>A
2g.38071193T>ACA346327730CYP1B1c.1161A>T (p.Glu387Asp)
n.539A>T
c.48A>T (p.Glu16Asp)
n.556A>T
2g.38071193T>CCA425690752CYP1B1c.1161A>G (p.Glu387=)
n.539A>G
c.48A>G (p.Glu16=)
n.556A>G

Number of alleles fetched