Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.38076323A= | CA1245628854 | CYP1B1 | c.-70-5013T= (n.-70-5013T=) c.937A= (p.Met313=) | |
2 | g.38076323A>G | CA2596089398 | CYP1B1 | c.-70-5013T>C (n.-70-5013T>C) c.937A>G (p.Met313Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076323A>T | CA531942523 | CYP1B1 | c.-70-5013T>A (n.-70-5013T>A) c.937A>T (p.Met313Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076324T>C | CA2658668333 | CYP1B1 | c.-70-5014A>G (n.-70-5014A>G) c.938T>C (p.Met313Thr) | gnomAD v4 |
2 | g.38076325G>T | CA2658668335 | CYP1B1 | c.-70-5015C>A (n.-70-5015C>A) c.939G>T (p.Met313Ile) | gnomAD v4 |
2 | g.38076327del | CA2658668334 | CYP1B1 | c.-70-5015del (n.-70-5015del) c.941del (p.Gly314GlufsTer?) | gnomAD v4 |
2 | g.38076326G>A | CA2658668336 | CYP1B1 | c.-70-5016C>T (n.-70-5016C>T) c.940G>A (p.Gly314Arg) | gnomAD v4 |
2 | g.38076326G>T | CA2658668337 | CYP1B1 | c.-70-5016C>A (n.-70-5016C>A) c.940G>T (p.Gly314Ter) | gnomAD v4 |
2 | g.38076327G>A | CA2749546804 | CYP1B1 | c.-70-5017C>T (n.-70-5017C>T) c.941G>A (p.Gly314Glu) | |
2 | g.38076327G>C | CA2749546805 | CYP1B1 | c.-70-5017C>G (n.-70-5017C>G) c.941G>C (p.Gly314Ala) | |
2 | g.38076327G>T | CA2658668338 | CYP1B1 | c.-70-5017C>A (n.-70-5017C>A) c.941G>T (p.Gly314Val) | gnomAD v4 |
2 | g.38076328A>G | CA2515137537 | CYP1B1 | c.-70-5018T>C (n.-70-5018T>C) c.942A>G (p.Gly314=) | gnomAD v4 |
2 | g.38076329G>A | CA1245628856 | CYP1B1 | c.-70-5019C>T (n.-70-5019C>T) c.943G>A (p.Ala315Thr) | dbSNP gnomAD v4 |
2 | g.38076329G= | CA1245628855 | CYP1B1 | c.-70-5019C= (n.-70-5019C=) c.943G= (p.Ala315=) | |
2 | g.38076329G>T | CA2658668339 | CYP1B1 | c.-70-5019C>A (n.-70-5019C>A) c.943G>T (p.Ala315Ser) | gnomAD v4 |
2 | g.38076330C>A | CA2658668340 | CYP1B1 | c.-70-5020G>T (n.-70-5020G>T) c.944C>A (p.Ala315Glu) | gnomAD v4 |
2 | g.38076330C= | CA1245628857 | CYP1B1 | c.-70-5020G= (n.-70-5020G=) c.944C= (p.Ala315=) | |
2 | g.38076330C>T | CA1245628858 | CYP1B1 | c.-70-5020G>A (n.-70-5020G>A) c.944C>T (p.Ala315Val) | dbSNP gnomAD v4 |
2 | g.38076331G>A | CA2658668341 | CYP1B1 | c.-70-5021C>T (n.-70-5021C>T) c.945G>A (p.Ala315=) | gnomAD v4 |
2 | g.38076331G= | CA1245628859 | CYP1B1 | c.-70-5021C= (n.-70-5021C=) c.945G= (p.Ala315=) | |
2 | g.38076331G>T | CA768427024 | CYP1B1 | c.-70-5021C>A (n.-70-5021C>A) c.945G>T (p.Ala315=) | dbSNP gnomAD v3 gnomAD v4 |