| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89777057G>T | CA340360 | MESP2 | c.700G>T (p.Glu234Ter) n.39-1008G>T c.31-1008G>T (n.31-1008G>T) | ClinVar dbSNP |
| 15 | g.89777057G= | CA2194781095 | MESP2 | c.700G= (p.Glu234=) n.39-1008G= c.31-1008G= (n.31-1008G=) | dbSNP |
| 15 | g.89777057G>C | CA393773304 | MESP2 | c.700G>C (p.Glu234Gln) n.39-1008G>C c.31-1008G>C (n.31-1008G>C) | dbSNP gnomAD v4 |