| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69964897G>C | CA434433396 | MITF | c.1164G>C (p.Thr388=) c.1161G>C (p.Thr387=) n.1386G>C c.1137G>C (p.Thr379=) c.1114-17G>C (n.1114-17G>C) c.1230G>C (p.Thr410=) c.909G>C (p.Thr303=) c.1209G>C (p.Thr403=) c.1212G>C (p.Thr404=) c.891G>C (p.Thr297=) c.1056G>C (p.Thr352=) c.*556G>C (n.*556G>C) c.723G>C (p.Thr241=) c.1182G>C (p.Thr394=) c.1074G>C (p.Thr358=) c.1227G>C (p.Thr409=) c.1179G>C (p.Thr393=) c.1062G>C (p.Thr354=) c.1044G>C (p.Thr348=) | dbSNP |
| 3 | g.69964897G>A | CA16604634 | MITF | c.1164G>A (p.Thr388=) c.1161G>A (p.Thr387=) n.1386G>A c.1137G>A (p.Thr379=) c.1114-17G>A (n.1114-17G>A) c.1230G>A (p.Thr410=) c.909G>A (p.Thr303=) c.1209G>A (p.Thr403=) c.1212G>A (p.Thr404=) c.891G>A (p.Thr297=) c.1056G>A (p.Thr352=) c.*556G>A (n.*556G>A) c.723G>A (p.Thr241=) c.1182G>A (p.Thr394=) c.1074G>A (p.Thr358=) c.1227G>A (p.Thr409=) c.1179G>A (p.Thr393=) c.1062G>A (p.Thr354=) c.1044G>A (p.Thr348=) | ClinVar dbSNP |
| 3 | g.69964897G= | CA1373413938 | MITF | c.1164G= (p.Thr388=) c.1161G= (p.Thr387=) n.1386G= c.1137G= (p.Thr379=) c.1114-17G= (n.1114-17G=) c.1230G= (p.Thr410=) c.909G= (p.Thr303=) c.1209G= (p.Thr403=) c.1212G= (p.Thr404=) c.891G= (p.Thr297=) c.1056G= (p.Thr352=) c.*556G= (n.*556G=) c.723G= (p.Thr241=) c.1182G= (p.Thr394=) c.1074G= (p.Thr358=) c.1227G= (p.Thr409=) c.1179G= (p.Thr393=) c.1062G= (p.Thr354=) c.1044G= (p.Thr348=) | dbSNP |