| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123706829C>T | CA279864 | TCTN2 | c.1873C>T (p.Gln625Ter) c.1870C>T (p.Gln624Ter) n.974C>T c.*245C>T (n.*245C>T) c.1738C>T (p.Gln580Ter) n.2645C>T c.961C>T (p.Gln321Ter) c.1735C>T (p.Gln579Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.123706829C= | CA2068986552 | TCTN2 | c.1873C= (p.Gln625=) c.1870C= (p.Gln624=) n.974C= c.*245C= (n.*245C=) c.1738C= (p.Gln580=) n.2645C= c.961C= (p.Gln321=) c.1735C= (p.Gln579=) | dbSNP |