| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69959284G>T | CA353561895 | MITF | c.977G>T (p.Trp326Leu) c.974G>T (p.Trp325Leu) n.1199G>T c.950G>T (p.Trp317Leu) c.1043G>T (p.Trp348Leu) c.722G>T (p.Trp241Leu) c.1022G>T (p.Trp341Leu) c.1025G>T (p.Trp342Leu) c.704G>T (p.Trp235Leu) c.995G>T (p.Trp332Leu) c.869G>T (p.Trp290Leu) c.*369G>T (n.*369G>T) c.536G>T (p.Trp179Leu) c.887G>T (p.Trp296Leu) c.1040G>T (p.Trp347Leu) c.992G>T (p.Trp331Leu) c.875G>T (p.Trp292Leu) c.857G>T (p.Trp286Leu) | dbSNP |
| 3 | g.69959284G>A | CA10576633 | MITF | c.977G>A (p.Trp326Ter) c.974G>A (p.Trp325Ter) n.1199G>A c.950G>A (p.Trp317Ter) c.1043G>A (p.Trp348Ter) c.722G>A (p.Trp241Ter) c.1022G>A (p.Trp341Ter) c.1025G>A (p.Trp342Ter) c.704G>A (p.Trp235Ter) c.995G>A (p.Trp332Ter) c.869G>A (p.Trp290Ter) c.*369G>A (n.*369G>A) c.536G>A (p.Trp179Ter) c.887G>A (p.Trp296Ter) c.1040G>A (p.Trp347Ter) c.992G>A (p.Trp331Ter) c.875G>A (p.Trp292Ter) c.857G>A (p.Trp286Ter) | ClinVar dbSNP |