| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28694066G>T | CA411094243 | CHEK2 | c.*162C>A (n.*162C>A) c.1226C>A (p.Thr409Lys) c.1427C>A (p.Thr476Lys) c.764C>A (p.Thr255Lys) c.767C>A (p.Thr256Lys) n.979C>A c.1340C>A (p.Thr447Lys) c.1556C>A (p.Thr519Lys) c.1154C>A (p.Thr385Lys) c.*917C>A (n.*917C>A) c.1336C>A (n.1336C>A) c.1365C>A (n.1365C>A) c.625C>A c.1317C>A (n.1317C>A) c.264-4851C>A c.947C>A (p.Thr316Lys) c.884C>A (p.Thr295Lys) c.1586C>A (p.Thr529Lys) c.1499C>A (p.Thr500Lys) c.1355C>A (p.Thr452Lys) c.1256C>A (p.Thr419Lys) n.1586C>A c.980C>A (p.Thr327Lys) c.1550C>A (p.Thr517Lys) c.1457C>A (p.Thr486Lys) c.1370C>A (p.Thr457Lys) n.1597C>A | ClinVar dbSNP |
| 22 | g.28694066G>C | CA411094244 | CHEK2 | c.*162C>G (n.*162C>G) c.1226C>G (p.Thr409Arg) c.1427C>G (p.Thr476Arg) c.764C>G (p.Thr255Arg) c.767C>G (p.Thr256Arg) n.979C>G c.1340C>G (p.Thr447Arg) c.1556C>G (p.Thr519Arg) c.1154C>G (p.Thr385Arg) c.*917C>G (n.*917C>G) c.1336C>G (n.1336C>G) c.1365C>G (n.1365C>G) c.625C>G c.1317C>G (n.1317C>G) c.264-4851C>G c.947C>G (p.Thr316Arg) c.884C>G (p.Thr295Arg) c.1586C>G (p.Thr529Arg) c.1499C>G (p.Thr500Arg) c.1355C>G (p.Thr452Arg) c.1256C>G (p.Thr419Arg) n.1586C>G c.980C>G (p.Thr327Arg) c.1550C>G (p.Thr517Arg) c.1457C>G (p.Thr486Arg) c.1370C>G (p.Thr457Arg) n.1597C>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694066G>A | CA288282 | CHEK2 | c.*162C>T (n.*162C>T) c.1226C>T (p.Thr409Met) c.1427C>T (p.Thr476Met) c.764C>T (p.Thr255Met) c.767C>T (p.Thr256Met) n.979C>T c.1340C>T (p.Thr447Met) c.1556C>T (p.Thr519Met) c.1154C>T (p.Thr385Met) c.*917C>T (n.*917C>T) c.1336C>T (n.1336C>T) c.1365C>T (n.1365C>T) c.625C>T c.1317C>T (n.1317C>T) c.264-4851C>T c.947C>T (p.Thr316Met) c.884C>T (p.Thr295Met) c.1586C>T (p.Thr529Met) c.1499C>T (p.Thr500Met) c.1355C>T (p.Thr452Met) c.1256C>T (p.Thr419Met) n.1586C>T c.980C>T (p.Thr327Met) c.1550C>T (p.Thr517Met) c.1457C>T (p.Thr486Met) c.1370C>T (p.Thr457Met) n.1597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |