Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38076298C>A | CA2658668308 | CYP1B1 | c.-70-4988G>T (n.-70-4988G>T) c.912C>A (p.Ala304=) | gnomAD v4 |
2 | g.38076298C>G | CA2658668309 | CYP1B1 | c.-70-4988G>C (n.-70-4988G>C) c.912C>G (p.Ala304=) | gnomAD v4 |
2 | g.38076298C>T | CA647039935 | CYP1B1 | c.-70-4988G>A (n.-70-4988G>A) c.912C>T (p.Ala304=) | COSMIC COSMIC |
2 | g.38076300C>A | CA2658668310 | CYP1B1 | c.-70-4990G>T (n.-70-4990G>T) c.914C>A (p.Ser305Ter) | gnomAD v4 |
2 | g.38076300C= | CA1245628839 | CYP1B1 | c.-70-4990G= (n.-70-4990G=) c.914C= (p.Ser305=) | |
2 | g.38076300C>G | CA45513165 | CYP1B1 | c.-70-4990G>C (n.-70-4990G>C) c.914C>G (p.Ser305Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076300C>T | CA2658668311 | CYP1B1 | c.-70-4990G>A (n.-70-4990G>A) c.914C>T (p.Ser305Leu) | gnomAD v4 |
2 | g.38076300_38076301delinsCG | CA1245628838 | CYP1B1 | c.-70-4991_-70-4990delinsCG (n.-70-4991_-70-4990delinsCG) c.914_915delinsCG (p.Ser305=) | |
2 | g.38076301G>A | CA2658668312 | CYP1B1 | c.-70-4991C>T (n.-70-4991C>T) c.915G>A (p.Ser305=) | gnomAD v4 |
2 | g.38076301G>C | CA1245628840 | CYP1B1 | c.-70-4991C>G (n.-70-4991C>G) c.915G>C (p.Ser305=) | dbSNP |
2 | g.38076301G= | CA1245628841 | CYP1B1 | c.-70-4991C= (n.-70-4991C=) c.915G= (p.Ser305=) | |
2 | g.38076301G>T | CA2658668313 | CYP1B1 | c.-70-4991C>A (n.-70-4991C>A) c.915G>T (p.Ser305=) | gnomAD v4 |
2 | g.38076302del | CA45513171 | CYP1B1 | c.-70-4991del (n.-70-4991del) c.916del (p.Glu306SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076302G>T | CA2658668314 | CYP1B1 | c.-70-4992C>A (n.-70-4992C>A) c.916G>T (p.Glu306Ter) | gnomAD v4 |
2 | g.38076303A>G | CA2658668315 | CYP1B1 | c.-70-4993T>C (n.-70-4993T>C) c.917A>G (p.Glu306Gly) | gnomAD v4 |
2 | g.38076304G>A | CA1245628842 | CYP1B1 | c.-70-4994C>T (n.-70-4994C>T) c.918G>A (p.Glu306=) | dbSNP gnomAD v4 |
2 | g.38076304G>C | CA1029495321 | CYP1B1 | c.-70-4994C>G (n.-70-4994C>G) c.918G>C (p.Glu306Asp) | dbSNP |
2 | g.38076304G= | CA1245628843 | CYP1B1 | c.-70-4994C= (n.-70-4994C=) c.918G= (p.Glu306=) | |
2 | g.38076304G>T | CA2658668316 | CYP1B1 | c.-70-4994C>A (n.-70-4994C>A) c.918G>T (p.Glu306Asp) | gnomAD v4 |
2 | g.38076305C= | CA1245628844 | CYP1B1 | c.-70-4995G= (n.-70-4995G=) c.919C= (p.Leu307=) | |
2 | g.38076305C>T | CA1245628845 | CYP1B1 | c.-70-4995G>A (n.-70-4995G>A) c.919C>T (p.Leu307Phe) | dbSNP |
2 | g.38076307C>T | CA2658668317 | CYP1B1 | c.-70-4997G>A (n.-70-4997G>A) c.921C>T (p.Leu307=) | gnomAD v4 |
2 | g.38076308T>C | CA2658668318 | CYP1B1 | c.-70-4998A>G (n.-70-4998A>G) c.922T>C (p.Tyr308His) | gnomAD v4 |
2 | g.38076309A= | CA1245628846 | CYP1B1 | c.-70-4999T= (n.-70-4999T=) c.923A= (p.Tyr308=) | |
2 | g.38076309A>G | CA1245628847 | CYP1B1 | c.-70-4999T>C (n.-70-4999T>C) c.923A>G (p.Tyr308Cys) | dbSNP gnomAD v4 |
2 | g.38076310C>A | CA2658668319 | CYP1B1 | c.-70-5000G>T (n.-70-5000G>T) c.924C>A (p.Tyr308Ter) | gnomAD v4 |
2 | g.38076310C>T | CA2658668320 | CYP1B1 | c.-70-5000G>A (n.-70-5000G>A) c.924C>T (p.Tyr308=) | gnomAD v4 |
2 | g.38076311C>A | CA2658668321 | CYP1B1 | c.-70-5001G>T (n.-70-5001G>T) c.925C>A (p.Gln309Lys) | gnomAD v4 |
2 | g.38076311C= | CA1245628848 | CYP1B1 | c.-70-5001G= (n.-70-5001G=) c.925C= (p.Gln309=) | |
2 | g.38076311C>T | CA531942520 | CYP1B1 | c.-70-5001G>A (n.-70-5001G>A) c.925C>T (p.Gln309Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076312A>G | CA2658668322 | CYP1B1 | c.-70-5002T>C (n.-70-5002T>C) c.926A>G (p.Gln309Arg) | gnomAD v4 |
2 | g.38076312_38076315dup | CA1245628849 | CYP1B1 | c.-70-5005_-70-5002dup (n.-70-5005_-70-5002dup) c.926_929dup (p.Phe312GlyfsTer15) | dbSNP |
2 | g.38076313G>A | CA1245628850 | CYP1B1 | c.-70-5003C>T (n.-70-5003C>T) c.927G>A (p.Gln309=) | dbSNP gnomAD v4 |
2 | g.38076313G= | CA1245628851 | CYP1B1 | c.-70-5003C= (n.-70-5003C=) c.927G= (p.Gln309=) | |
2 | g.38076313G>T | CA45513175 | CYP1B1 | c.-70-5003C>A (n.-70-5003C>A) c.927G>T (p.Gln309His) | dbSNP gnomAD v4 |
2 | g.38076313_38076314insACAA | CA2749546801 | CYP1B1 | c.-70-5004_-70-5003insTTGT (n.-70-5004_-70-5003insTTGT) c.927_928insACAA (p.Gln310ThrfsTer17) | |
2 | g.38076314C>A | CA1245628853 | CYP1B1 | c.-70-5004G>T (n.-70-5004G>T) c.928C>A (p.Gln310Lys) | dbSNP gnomAD v4 |
2 | g.38076314C= | CA1245628852 | CYP1B1 | c.-70-5004G= (n.-70-5004G=) c.928C= (p.Gln310=) | |
2 | g.38076314C>T | CA2658668323 | CYP1B1 | c.-70-5004G>A (n.-70-5004G>A) c.928C>T (p.Gln310Ter) | gnomAD v4 |
2 | g.38076316G>T | CA2658668324 | CYP1B1 | c.-70-5006C>A (n.-70-5006C>A) c.930G>T (p.Gln310His) | gnomAD v4 |
2 | g.38076317G>A | CA2658668325 | CYP1B1 | c.-70-5007C>T (n.-70-5007C>T) c.931G>A (p.Ala311Thr) | gnomAD v4 |
2 | g.38076317G>T | CA2658668326 | CYP1B1 | c.-70-5007C>A (n.-70-5007C>A) c.931G>T (p.Ala311Ser) | gnomAD v4 |
2 | g.38076318C>A | CA2658668327 | CYP1B1 | c.-70-5008G>T (n.-70-5008G>T) c.932C>A (p.Ala311Asp) | gnomAD v4 |
2 | g.38076319T>C | CA2658668328 | CYP1B1 | c.-70-5009A>G (n.-70-5009A>G) c.933T>C (p.Ala311=) | gnomAD v4 |
2 | g.38076319_38076320insAG | CA2749546802 | CYP1B1 | c.-70-5010_-70-5009insCT (n.-70-5010_-70-5009insCT) c.933_934insAG (p.Phe312SerfsTer?) | |
2 | g.38076320T>C | CA2658668329 | CYP1B1 | c.-70-5010A>G (n.-70-5010A>G) c.934T>C (p.Phe312Leu) | gnomAD v4 |
2 | g.38076321T>C | CA2658668330 | CYP1B1 | c.-70-5011A>G (n.-70-5011A>G) c.935T>C (p.Phe312Ser) | gnomAD v4 |
2 | g.38076321_38076322del | CA2749546803 | CYP1B1 | c.-70-5012_-70-5011del (n.-70-5012_-70-5011del) c.935_936del (p.Phe312TyrfsTer13) | |
2 | g.38076322C>A | CA2658668331 | CYP1B1 | c.-70-5012G>T (n.-70-5012G>T) c.936C>A (p.Phe312Leu) | gnomAD v4 |
2 | g.38076322C>T | CA2658668332 | CYP1B1 | c.-70-5012G>A (n.-70-5012G>A) c.936C>T (p.Phe312=) | gnomAD v4 |