| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74892728T>C | CA257212 | MPI | c.413T>C (p.Met138Thr) c.263T>C (p.Met88Thr) c.*309T>C (n.*309T>C) c.353T>C (p.Met118Thr) c.255+1239T>C (n.255+1239T>C) n.444T>C c.371T>C (p.Met124Thr) c.374T>C (p.Met125Thr) c.377T>C (p.Met126Thr) n.522T>C c.323T>C (p.Met108Thr) c.470T>C (p.Met157Thr) c.401T>C (p.Met134Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74892728T= | CA2187896823 | MPI | c.413T= (p.Met138=) c.263T= (p.Met88=) c.*309T= (n.*309T=) c.353T= (p.Met118=) c.255+1239T= (n.255+1239T=) n.444T= c.371T= (p.Met124=) c.374T= (p.Met125=) c.377T= (p.Met126=) n.522T= c.323T= (p.Met108=) c.470T= (p.Met157=) c.401T= (p.Met134=) | dbSNP |