Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.123704670T>A | CA210283 | TCTN2 | c.1751T>A (p.Ile584Lys) c.1748T>A (p.Ile583Lys) n.852T>A c.*123T>A (n.*123T>A) c.1616T>A (p.Ile539Lys) n.2523T>A c.839T>A (p.Ile280Lys) c.1613T>A (p.Ile538Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.123704670T>C | CA387147836 | TCTN2 | c.1751T>C (p.Ile584Thr) c.1748T>C (p.Ile583Thr) n.852T>C c.*123T>C (n.*123T>C) c.1616T>C (p.Ile539Thr) n.2523T>C c.839T>C (p.Ile280Thr) c.1613T>C (p.Ile538Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |