| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644407C>T | CA263923 | SLC17A5 | c.291G>A (p.Thr97=) n.57G>A c.240G>A (p.Thr80=) c.93G>A (p.Thr31=) c.61-2483G>A (n.61-2483G>A) c.312G>A (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73644407C= | CA1638225445 | SLC17A5 | c.291G= (p.Thr97=) n.57G= c.240G= (p.Thr80=) c.93G= (p.Thr31=) c.61-2483G= (n.61-2483G=) c.312G= (p.Thr104=) | dbSNP |
| 6 | g.73644407C>A | CA450912328 | SLC17A5 | c.291G>T (p.Thr97=) n.57G>T c.240G>T (p.Thr80=) c.93G>T (p.Thr31=) c.61-2483G>T (n.61-2483G>T) c.312G>T (p.Thr104=) | dbSNP |
| 6 | g.73644407C>G | CA450912329 | SLC17A5 | c.291G>C (p.Thr97=) n.57G>C c.240G>C (p.Thr80=) c.93G>C (p.Thr31=) c.61-2483G>C (n.61-2483G>C) c.312G>C (p.Thr104=) | dbSNP |