| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149010271C>T | CA128998592 | SH3TC2 | c.3222G>A c.3326G>A (p.Arg1109Gln) c.*2610G>A (n.*2610G>A) c.*2714G>A (n.*2714G>A) c.2856G>A (n.2856G>A) c.2376G>A c.3305G>A (p.Arg1102Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.149010271C>G | CA342384 | SH3TC2 | c.3222G>C c.3326G>C (p.Arg1109Pro) c.*2610G>C (n.*2610G>C) c.*2714G>C (n.*2714G>C) c.2856G>C (n.2856G>C) c.2376G>C c.3305G>C (p.Arg1102Pro) | ClinVar dbSNP |