| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.69382591C>T | CA16042708 | HK1 | c.1370C>T (p.Thr457Met) c.1286C>T (p.Thr429Met) c.1265+2496C>T (n.1265+2496C>T) c.980C>T (p.Thr327Met) c.*987C>T (n.*987C>T) c.*633C>T (n.*633C>T) c.1250C>T (p.Thr417Met) n.1920C>T c.1367C>T (p.Thr456Met) c.1382C>T (p.Thr461Met) c.*1258C>T (n.*1258C>T) c.1334C>T (p.Thr445Met) n.1596C>T c.1499C>T (p.Thr500Met) c.1328C>T (p.Thr443Met) c.1325C>T (p.Thr442Met) c.1475C>T (p.Thr492Met) c.1274C>T (p.Thr425Met) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 10 | g.69382591C= | CA1917772075 | HK1 | c.1370C= (p.Thr457=) c.1286C= (p.Thr429=) c.1265+2496C= (n.1265+2496C=) c.980C= (p.Thr327=) c.*987C= (n.*987C=) c.*633C= (n.*633C=) c.1250C= (p.Thr417=) n.1920C= c.1367C= (p.Thr456=) c.1382C= (p.Thr461=) c.*1258C= (n.*1258C=) c.1334C= (p.Thr445=) n.1596C= c.1499C= (p.Thr500=) c.1328C= (p.Thr443=) c.1325C= (p.Thr442=) c.1475C= (p.Thr492=) c.1274C= (p.Thr425=) | dbSNP |
| 10 | g.69382591C>A | CA376909717 | HK1 | c.1370C>A (p.Thr457Lys) c.1286C>A (p.Thr429Lys) c.1265+2496C>A (n.1265+2496C>A) c.980C>A (p.Thr327Lys) c.*987C>A (n.*987C>A) c.*633C>A (n.*633C>A) c.1250C>A (p.Thr417Lys) n.1920C>A c.1367C>A (p.Thr456Lys) c.1382C>A (p.Thr461Lys) c.*1258C>A (n.*1258C>A) c.1334C>A (p.Thr445Lys) n.1596C>A c.1499C>A (p.Thr500Lys) c.1328C>A (p.Thr443Lys) c.1325C>A (p.Thr442Lys) c.1475C>A (p.Thr492Lys) c.1274C>A (p.Thr425Lys) | ClinVar dbSNP |