| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800914C>G | CA011115 | FBXO11,MSH6 | c.2634C>G (p.Tyr878Ter) c.2931C>G (p.Tyr977Ter) n.3015C>G c.1606+1325C>G (n.1606+1325C>G) c.2937C>G (p.Tyr979Ter) c.628-2506C>G (n.628-2506C>G) c.2088C>G (p.Tyr696Ter) c.2541C>G (p.Tyr847Ter) c.169+7281G>C (n.169+7281G>C) c.*124+7080G>C (n.*124+7080G>C) c.*2278C>G (n.*2278C>G) c.2025C>G (p.Tyr675Ter) c.2928C>G (p.Tyr976Ter) c.-166C>G (n.-166C>G) c.2748C>G (p.Tyr916Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800914C>T | CA426122054 | FBXO11,MSH6 | c.2634C>T (p.Tyr878=) c.2931C>T (p.Tyr977=) n.3015C>T c.1606+1325C>T (n.1606+1325C>T) c.2937C>T (p.Tyr979=) c.628-2506C>T (n.628-2506C>T) c.2088C>T (p.Tyr696=) c.2541C>T (p.Tyr847=) c.169+7281G>A (n.169+7281G>A) c.*124+7080G>A (n.*124+7080G>A) c.*2278C>T (n.*2278C>T) c.2025C>T (p.Tyr675=) c.2928C>T (p.Tyr976=) c.-166C>T (n.-166C>T) c.2748C>T (p.Tyr916=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800914C>A | CA346756202 | FBXO11,MSH6 | c.2634C>A (p.Tyr878Ter) c.2931C>A (p.Tyr977Ter) n.3015C>A c.1606+1325C>A (n.1606+1325C>A) c.2937C>A (p.Tyr979Ter) c.628-2506C>A (n.628-2506C>A) c.2088C>A (p.Tyr696Ter) c.2541C>A (p.Tyr847Ter) c.169+7281G>T (n.169+7281G>T) c.*124+7080G>T (n.*124+7080G>T) c.*2278C>A (n.*2278C>A) c.2025C>A (p.Tyr675Ter) c.2928C>A (p.Tyr976Ter) c.-166C>A (n.-166C>A) c.2748C>A (p.Tyr916Ter) | ClinVar dbSNP gnomAD v4 |