| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.75324385G>C | CA214710 | TBC1D4 | c.2050C>G (p.Arg684Gly) c.1490+1812C>G (n.1490+1812C>G) c.2033+1812C>G (n.2033+1812C>G) c.569+1812C>G (n.569+1812C>G) n.71C>G c.1975C>G (p.Arg659Gly) c.1507C>G (p.Arg503Gly) c.1576C>G (p.Arg526Gly) c.1939C>G (p.Arg647Gly) c.1379+1812C>G (n.1379+1812C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.75324385G>A | CA214736 | TBC1D4 | c.2050C>T (p.Arg684Ter) c.1490+1812C>T (n.1490+1812C>T) c.2033+1812C>T (n.2033+1812C>T) c.569+1812C>T (n.569+1812C>T) n.71C>T c.1975C>T (p.Arg659Ter) c.1507C>T (p.Arg503Ter) c.1576C>T (p.Arg526Ter) c.1939C>T (p.Arg647Ter) c.1379+1812C>T (n.1379+1812C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |