| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956457G>C | CA16605010 | MITF | c.892G>C (p.Glu298Gln) c.889G>C (p.Glu297Gln) n.1114G>C c.865G>C (p.Glu289Gln) c.958G>C (p.Glu320Gln) c.637G>C (p.Glu213Gln) c.937G>C (p.Glu313Gln) c.940G>C (p.Glu314Gln) c.619G>C (p.Glu207Gln) c.910G>C (p.Glu304Gln) c.784G>C (p.Glu262Gln) c.*284G>C (n.*284G>C) c.451G>C (p.Glu151Gln) c.802G>C (p.Glu268Gln) c.955G>C (p.Glu319Gln) c.907G>C (p.Glu303Gln) c.790G>C (p.Glu264Gln) c.772G>C (p.Glu258Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956457G= | CA1373447495 | MITF | c.892G= (p.Glu298=) c.889G= (p.Glu297=) n.1114G= c.865G= (p.Glu289=) c.958G= (p.Glu320=) c.637G= (p.Glu213=) c.937G= (p.Glu313=) c.940G= (p.Glu314=) c.619G= (p.Glu207=) c.910G= (p.Glu304=) c.784G= (p.Glu262=) c.*284G= (n.*284G=) c.451G= (p.Glu151=) c.802G= (p.Glu268=) c.955G= (p.Glu319=) c.907G= (p.Glu303=) c.790G= (p.Glu264=) c.772G= (p.Glu258=) | dbSNP |