| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72106165T>C | CA251497 | LRRC51,LRTOMT,TOMT | c.214T>C (p.Trp72Arg) c.438-2440T>C (n.438-2440T>C) c.*32T>C (n.*32T>C) c.313T>C (p.Trp105Arg) c.193T>C (p.Trp65Arg) n.371T>C c.538T>C (p.Trp180Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72106165T= | CA1981839940 | LRRC51,LRTOMT,TOMT | c.214T= (p.Trp72=) c.438-2440T= (n.438-2440T=) c.*32T= (n.*32T=) c.313T= (p.Trp105=) c.193T= (p.Trp65=) n.371T= c.538T= (p.Trp180=) | dbSNP |