| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193659547C>T | CA320108 | OPA1 | c.2506C>T (p.Arg836Trp) c.2341C>T (p.Arg781Trp) c.2452C>T (p.Arg818Trp) c.2395C>T (p.Arg799Trp) c.2280C>T c.*566C>T (n.*566C>T) c.2023C>T (p.Arg675Trp) c.*2422C>T (n.*2422C>T) c.1928C>T c.*825C>T (n.*825C>T) c.2335C>T c.2356C>T (p.Arg786Trp) c.*1819C>T (n.*1819C>T) c.*942C>T (n.*942C>T) c.1329C>T c.2233C>T (p.Arg745Trp) c.2344C>T (p.Arg782Trp) c.2398C>T (p.Arg800Trp) c.2287C>T (p.Arg763Trp) n.582+9373G>A c.1972C>T (p.Arg658Trp) c.1969C>T (p.Arg657Trp) n.2760C>T n.2595C>T n.475+11261G>A n.600+9373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193659547C>G | CA2759675 | OPA1 | c.2506C>G (p.Arg836Gly) c.2341C>G (p.Arg781Gly) c.2452C>G (p.Arg818Gly) c.2395C>G (p.Arg799Gly) c.2280C>G c.*566C>G (n.*566C>G) c.2023C>G (p.Arg675Gly) c.*2422C>G (n.*2422C>G) c.1928C>G c.*825C>G (n.*825C>G) c.2335C>G c.2356C>G (p.Arg786Gly) c.*1819C>G (n.*1819C>G) c.*942C>G (n.*942C>G) c.1329C>G c.2233C>G (p.Arg745Gly) c.2344C>G (p.Arg782Gly) c.2398C>G (p.Arg800Gly) c.2287C>G (p.Arg763Gly) n.582+9373G>C c.1972C>G (p.Arg658Gly) c.1969C>G (p.Arg657Gly) n.2760C>G n.2595C>G n.475+11261G>C n.600+9373G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |