| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64003330G>C | CA390000609 | SYNE2 | c.4397G>C (p.Arg1466Pro) c.*1312G>C (n.*1312G>C) n.307G>C c.1202G>C (p.Arg401Pro) c.4328G>C (p.Arg1443Pro) n.4627G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64003330G>A | CA16621659 | SYNE2 | c.4397G>A (p.Arg1466Gln) c.*1312G>A (n.*1312G>A) n.307G>A c.1202G>A (p.Arg401Gln) c.4328G>A (p.Arg1443Gln) n.4627G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64003330G>T | CA390000607 | SYNE2 | c.4397G>T (p.Arg1466Leu) c.*1312G>T (n.*1312G>T) n.307G>T c.1202G>T (p.Arg401Leu) c.4328G>T (p.Arg1443Leu) n.4627G>T | dbSNP gnomAD v4 |