Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.96121697dup | CA253675 | SLC25A13 | c.1799dup (p.Tyr600Ter) c.1802dup (p.Tyr601Ter) n.302dup n.1874dup c.1832dup (p.Tyr611Ter) c.947dup (p.Tyr316Ter) c.1790dup (p.Tyr597Ter) n.2045dup n.2603dup n.1825dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.96121697_96121698insTTT | CA844156328 | SLC25A13 | c.1799_1800insAAA (p.Tyr600Ter) c.1802_1803insAAA (p.Tyr601Ter) n.302_303insAAA n.1874_1875insAAA c.1832_1833insAAA (p.Tyr611Ter) c.947_948insAAA (p.Tyr316Ter) c.1790_1791insAAA (p.Tyr597Ter) n.2045_2046insAAA n.2603_2604insAAA n.1825_1826insAAA | dbSNP |