| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.151490495C>G | CA348771150 | NEB,RIF1 | c.3483G>C c.1773G>C n.993G>C c.6879G>C n.3065G>C c.25174G>C (p.Glu8392Gln) c.19606G>C (p.Glu6536Gln) c.1575G>C c.8620G>C (p.Glu2874Gln) c.1896G>C c.2656-4734C>G n.480+3739C>G c.25279G>C (p.Glu8427Gln) c.25081G>C (p.Glu8361Gln) c.24988G>C (p.Glu8330Gln) c.24895G>C (p.Glu8299Gln) c.24802G>C (p.Glu8268Gln) c.24709G>C (p.Glu8237Gln) c.24616G>C (p.Glu8206Gln) c.24523G>C (p.Glu8175Gln) c.24445G>C (p.Glu8149Gln) c.24430G>C (p.Glu8144Gln) c.22258G>C (p.Glu7420Gln) c.22987G>C (p.Glu7663Gln) c.20800G>C (p.Glu6934Gln) n.7839-4734C>G n.7838+7160C>G c.25063G>C (p.Glu8355Gln) c.24151G>C (p.Glu8051Gln) n.8214-4734C>G n.8213+7160C>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.151490495C>T | CA1905785 | NEB,RIF1 | c.3483G>A c.1773G>A n.993G>A c.6879G>A n.3065G>A c.25174G>A (p.Glu8392Lys) c.19606G>A (p.Glu6536Lys) c.1575G>A c.8620G>A (p.Glu2874Lys) c.1896G>A c.2656-4734C>T n.480+3739C>T c.25279G>A (p.Glu8427Lys) c.25081G>A (p.Glu8361Lys) c.24988G>A (p.Glu8330Lys) c.24895G>A (p.Glu8299Lys) c.24802G>A (p.Glu8268Lys) c.24709G>A (p.Glu8237Lys) c.24616G>A (p.Glu8206Lys) c.24523G>A (p.Glu8175Lys) c.24445G>A (p.Glu8149Lys) c.24430G>A (p.Glu8144Lys) c.22258G>A (p.Glu7420Lys) c.22987G>A (p.Glu7663Lys) c.20800G>A (p.Glu6934Lys) n.7839-4734C>T n.7838+7160C>T c.25063G>A (p.Glu8355Lys) c.24151G>A (p.Glu8051Lys) n.8214-4734C>T n.8213+7160C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151490495C>A | CA257071 | NEB,RIF1 | c.3483G>T c.1773G>T n.993G>T c.6879G>T n.3065G>T c.25174G>T (p.Glu8392Ter) c.19606G>T (p.Glu6536Ter) c.1575G>T c.8620G>T (p.Glu2874Ter) c.1896G>T c.2656-4734C>A n.480+3739C>A c.25279G>T (p.Glu8427Ter) c.25081G>T (p.Glu8361Ter) c.24988G>T (p.Glu8330Ter) c.24895G>T (p.Glu8299Ter) c.24802G>T (p.Glu8268Ter) c.24709G>T (p.Glu8237Ter) c.24616G>T (p.Glu8206Ter) c.24523G>T (p.Glu8175Ter) c.24445G>T (p.Glu8149Ter) c.24430G>T (p.Glu8144Ter) c.22258G>T (p.Glu7420Ter) c.22987G>T (p.Glu7663Ter) c.20800G>T (p.Glu6934Ter) n.7839-4734C>A n.7838+7160C>A c.25063G>T (p.Glu8355Ter) c.24151G>T (p.Glu8051Ter) n.8214-4734C>A n.8213+7160C>A | ClinVar dbSNP gnomAD v4 |