Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38076298C>ACA2658668308CYP1B1c.-70-4988G>T (n.-70-4988G>T)
c.912C>A (p.Ala304=)
gnomAD v4
2g.38076298C>GCA2658668309CYP1B1c.-70-4988G>C (n.-70-4988G>C)
c.912C>G (p.Ala304=)
gnomAD v4
2g.38076298C>TCA647039935CYP1B1c.-70-4988G>A (n.-70-4988G>A)
c.912C>T (p.Ala304=)
COSMIC COSMIC
2g.38076300C>ACA2658668310CYP1B1c.-70-4990G>T (n.-70-4990G>T)
c.914C>A (p.Ser305Ter)
gnomAD v4
2g.38076300C=CA1245628839CYP1B1c.-70-4990G= (n.-70-4990G=)
c.914C= (p.Ser305=)
2g.38076300C>GCA45513165CYP1B1c.-70-4990G>C (n.-70-4990G>C)
c.914C>G (p.Ser305Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076300C>TCA2658668311CYP1B1c.-70-4990G>A (n.-70-4990G>A)
c.914C>T (p.Ser305Leu)
gnomAD v4
2g.38076300_38076301delinsCGCA1245628838CYP1B1c.-70-4991_-70-4990delinsCG (n.-70-4991_-70-4990delinsCG)
c.914_915delinsCG (p.Ser305=)
2g.38076301G>ACA2658668312CYP1B1c.-70-4991C>T (n.-70-4991C>T)
c.915G>A (p.Ser305=)
gnomAD v4
2g.38076301G>CCA1245628840CYP1B1c.-70-4991C>G (n.-70-4991C>G)
c.915G>C (p.Ser305=)
dbSNP
2g.38076301G=CA1245628841CYP1B1c.-70-4991C= (n.-70-4991C=)
c.915G= (p.Ser305=)
2g.38076301G>TCA2658668313CYP1B1c.-70-4991C>A (n.-70-4991C>A)
c.915G>T (p.Ser305=)
gnomAD v4
2g.38076302delCA45513171CYP1B1c.-70-4991del (n.-70-4991del)
c.916del (p.Glu306SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076302G>TCA2658668314CYP1B1c.-70-4992C>A (n.-70-4992C>A)
c.916G>T (p.Glu306Ter)
gnomAD v4
2g.38076303A>GCA2658668315CYP1B1c.-70-4993T>C (n.-70-4993T>C)
c.917A>G (p.Glu306Gly)
gnomAD v4
2g.38076304G>ACA1245628842CYP1B1c.-70-4994C>T (n.-70-4994C>T)
c.918G>A (p.Glu306=)
dbSNP gnomAD v4
2g.38076304G>CCA1029495321CYP1B1c.-70-4994C>G (n.-70-4994C>G)
c.918G>C (p.Glu306Asp)
dbSNP
2g.38076304G=CA1245628843CYP1B1c.-70-4994C= (n.-70-4994C=)
c.918G= (p.Glu306=)
2g.38076304G>TCA2658668316CYP1B1c.-70-4994C>A (n.-70-4994C>A)
c.918G>T (p.Glu306Asp)
gnomAD v4
2g.38076305C=CA1245628844CYP1B1c.-70-4995G= (n.-70-4995G=)
c.919C= (p.Leu307=)
2g.38076305C>TCA1245628845CYP1B1c.-70-4995G>A (n.-70-4995G>A)
c.919C>T (p.Leu307Phe)
dbSNP
2g.38076307C>TCA2658668317CYP1B1c.-70-4997G>A (n.-70-4997G>A)
c.921C>T (p.Leu307=)
gnomAD v4
2g.38076308T>CCA2658668318CYP1B1c.-70-4998A>G (n.-70-4998A>G)
c.922T>C (p.Tyr308His)
gnomAD v4
2g.38076309A=CA1245628846CYP1B1c.-70-4999T= (n.-70-4999T=)
c.923A= (p.Tyr308=)
2g.38076309A>GCA1245628847CYP1B1c.-70-4999T>C (n.-70-4999T>C)
c.923A>G (p.Tyr308Cys)
dbSNP gnomAD v4
2g.38076310C>ACA2658668319CYP1B1c.-70-5000G>T (n.-70-5000G>T)
c.924C>A (p.Tyr308Ter)
gnomAD v4
2g.38076310C>TCA2658668320CYP1B1c.-70-5000G>A (n.-70-5000G>A)
c.924C>T (p.Tyr308=)
gnomAD v4
2g.38076311C>ACA2658668321CYP1B1c.-70-5001G>T (n.-70-5001G>T)
c.925C>A (p.Gln309Lys)
gnomAD v4
2g.38076311C=CA1245628848CYP1B1c.-70-5001G= (n.-70-5001G=)
c.925C= (p.Gln309=)
2g.38076311C>TCA531942520CYP1B1c.-70-5001G>A (n.-70-5001G>A)
c.925C>T (p.Gln309Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076312A>GCA2658668322CYP1B1c.-70-5002T>C (n.-70-5002T>C)
c.926A>G (p.Gln309Arg)
gnomAD v4
2g.38076312_38076315dupCA1245628849CYP1B1c.-70-5005_-70-5002dup (n.-70-5005_-70-5002dup)
c.926_929dup (p.Phe312GlyfsTer15)
dbSNP
2g.38076313G>ACA1245628850CYP1B1c.-70-5003C>T (n.-70-5003C>T)
c.927G>A (p.Gln309=)
dbSNP gnomAD v4
2g.38076313G=CA1245628851CYP1B1c.-70-5003C= (n.-70-5003C=)
c.927G= (p.Gln309=)
2g.38076313G>TCA45513175CYP1B1c.-70-5003C>A (n.-70-5003C>A)
c.927G>T (p.Gln309His)
dbSNP gnomAD v4
2g.38076313_38076314insACAACA2749546801CYP1B1c.-70-5004_-70-5003insTTGT (n.-70-5004_-70-5003insTTGT)
c.927_928insACAA (p.Gln310ThrfsTer17)
2g.38076314C>ACA1245628853CYP1B1c.-70-5004G>T (n.-70-5004G>T)
c.928C>A (p.Gln310Lys)
dbSNP gnomAD v4
2g.38076314C=CA1245628852CYP1B1c.-70-5004G= (n.-70-5004G=)
c.928C= (p.Gln310=)
2g.38076314C>TCA2658668323CYP1B1c.-70-5004G>A (n.-70-5004G>A)
c.928C>T (p.Gln310Ter)
gnomAD v4
2g.38076316G>TCA2658668324CYP1B1c.-70-5006C>A (n.-70-5006C>A)
c.930G>T (p.Gln310His)
gnomAD v4
2g.38076317G>ACA2658668325CYP1B1c.-70-5007C>T (n.-70-5007C>T)
c.931G>A (p.Ala311Thr)
gnomAD v4
2g.38076317G>TCA2658668326CYP1B1c.-70-5007C>A (n.-70-5007C>A)
c.931G>T (p.Ala311Ser)
gnomAD v4
2g.38076318C>ACA2658668327CYP1B1c.-70-5008G>T (n.-70-5008G>T)
c.932C>A (p.Ala311Asp)
gnomAD v4
2g.38076319T>CCA2658668328CYP1B1c.-70-5009A>G (n.-70-5009A>G)
c.933T>C (p.Ala311=)
gnomAD v4
2g.38076319_38076320insAGCA2749546802CYP1B1c.-70-5010_-70-5009insCT (n.-70-5010_-70-5009insCT)
c.933_934insAG (p.Phe312SerfsTer?)
2g.38076320T>CCA2658668329CYP1B1c.-70-5010A>G (n.-70-5010A>G)
c.934T>C (p.Phe312Leu)
gnomAD v4
2g.38076321T>CCA2658668330CYP1B1c.-70-5011A>G (n.-70-5011A>G)
c.935T>C (p.Phe312Ser)
gnomAD v4
2g.38076321_38076322delCA2749546803CYP1B1c.-70-5012_-70-5011del (n.-70-5012_-70-5011del)
c.935_936del (p.Phe312TyrfsTer13)
2g.38076322C>ACA2658668331CYP1B1c.-70-5012G>T (n.-70-5012G>T)
c.936C>A (p.Phe312Leu)
gnomAD v4
2g.38076322C>TCA2658668332CYP1B1c.-70-5012G>A (n.-70-5012G>A)
c.936C>T (p.Phe312=)
gnomAD v4

Number of alleles fetched