| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47799916G>A | CA346750393 | FBXO11,MSH6 | c.1636G>A (p.Glu546Lys) c.1933G>A (p.Glu645Lys) n.2017G>A c.1606+327G>A (n.1606+327G>A) c.1939G>A (p.Glu647Lys) c.628-3504G>A (n.628-3504G>A) c.1090G>A (p.Glu364Lys) c.1543G>A (p.Glu515Lys) c.169+8279C>T (n.169+8279C>T) c.*124+8078C>T (n.*124+8078C>T) c.*1280G>A (n.*1280G>A) c.1027G>A (p.Glu343Lys) c.1930G>A (p.Glu644Lys) c.-1164G>A (n.-1164G>A) c.1750G>A (p.Glu584Lys) | dbSNP gnomAD v4 |
| 2 | g.47799916G>T | CA16617661 | FBXO11,MSH6 | c.1636G>T (p.Glu546Ter) c.1933G>T (p.Glu645Ter) n.2017G>T c.1606+327G>T (n.1606+327G>T) c.1939G>T (p.Glu647Ter) c.628-3504G>T (n.628-3504G>T) c.1090G>T (p.Glu364Ter) c.1543G>T (p.Glu515Ter) c.169+8279C>A (n.169+8279C>A) c.*124+8078C>A (n.*124+8078C>A) c.*1280G>T (n.*1280G>T) c.1027G>T (p.Glu343Ter) c.1930G>T (p.Glu644Ter) c.-1164G>T (n.-1164G>T) c.1750G>T (p.Glu584Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |