| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695219G>A | CA250528 | CHEK2 | c.*18C>T (n.*18C>T) c.1082C>T (p.Ser361Phe) c.1283C>T (p.Ser428Phe) c.620C>T (p.Ser207Phe) c.623C>T (p.Ser208Phe) n.835C>T c.1196C>T (p.Ser399Phe) c.1412C>T (p.Ser471Phe) c.1010C>T (p.Ser337Phe) c.*773C>T (n.*773C>T) c.1192C>T (n.1192C>T) c.1221C>T (n.1221C>T) c.491-10C>T c.1173C>T (n.1173C>T) c.263+4619C>T c.803C>T (p.Ser268Phe) c.740C>T (p.Ser247Phe) c.1442C>T (p.Ser481Phe) c.1355C>T (p.Ser452Phe) c.1211C>T (p.Ser404Phe) c.1112C>T (p.Ser371Phe) n.1442C>T c.836C>T (p.Ser279Phe) c.1406C>T (p.Ser469Phe) c.1313C>T (p.Ser438Phe) c.1226C>T (p.Ser409Phe) n.1453C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.28695219G>C | CA411096242 | CHEK2 | c.*18C>G (n.*18C>G) c.1082C>G (p.Ser361Cys) c.1283C>G (p.Ser428Cys) c.620C>G (p.Ser207Cys) c.623C>G (p.Ser208Cys) n.835C>G c.1196C>G (p.Ser399Cys) c.1412C>G (p.Ser471Cys) c.1010C>G (p.Ser337Cys) c.*773C>G (n.*773C>G) c.1192C>G (n.1192C>G) c.1221C>G (n.1221C>G) c.491-10C>G c.1173C>G (n.1173C>G) c.263+4619C>G c.803C>G (p.Ser268Cys) c.740C>G (p.Ser247Cys) c.1442C>G (p.Ser481Cys) c.1355C>G (p.Ser452Cys) c.1211C>G (p.Ser404Cys) c.1112C>G (p.Ser371Cys) n.1442C>G c.836C>G (p.Ser279Cys) c.1406C>G (p.Ser469Cys) c.1313C>G (p.Ser438Cys) c.1226C>G (p.Ser409Cys) n.1453C>G | dbSNP |
| 22 | g.28695219G>T | CA411096243 | CHEK2 | c.*18C>A (n.*18C>A) c.1082C>A (p.Ser361Tyr) c.1283C>A (p.Ser428Tyr) c.620C>A (p.Ser207Tyr) c.623C>A (p.Ser208Tyr) n.835C>A c.1196C>A (p.Ser399Tyr) c.1412C>A (p.Ser471Tyr) c.1010C>A (p.Ser337Tyr) c.*773C>A (n.*773C>A) c.1192C>A (n.1192C>A) c.1221C>A (n.1221C>A) c.491-10C>A c.1173C>A (n.1173C>A) c.263+4619C>A c.803C>A (p.Ser268Tyr) c.740C>A (p.Ser247Tyr) c.1442C>A (p.Ser481Tyr) c.1355C>A (p.Ser452Tyr) c.1211C>A (p.Ser404Tyr) c.1112C>A (p.Ser371Tyr) n.1442C>A c.836C>A (p.Ser279Tyr) c.1406C>A (p.Ser469Tyr) c.1313C>A (p.Ser438Tyr) c.1226C>A (p.Ser409Tyr) n.1453C>A | dbSNP |
| 22 | g.28695219G= | CA2400237999 | CHEK2 | c.*18C= (n.*18C=) c.1082C= (p.Ser361=) c.1283C= (p.Ser428=) c.620C= (p.Ser207=) c.623C= (p.Ser208=) n.835C= c.1196C= (p.Ser399=) c.1412C= (p.Ser471=) c.1010C= (p.Ser337=) c.*773C= (n.*773C=) c.1192C= (n.1192C=) c.1221C= (n.1221C=) c.491-10C= c.1173C= (n.1173C=) c.263+4619C= c.803C= (p.Ser268=) c.740C= (p.Ser247=) c.1442C= (p.Ser481=) c.1355C= (p.Ser452=) c.1211C= (p.Ser404=) c.1112C= (p.Ser371=) n.1442C= c.836C= (p.Ser279=) c.1406C= (p.Ser469=) c.1313C= (p.Ser438=) c.1226C= (p.Ser409=) n.1453C= | dbSNP |