| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.78726217C>A | CA382122587 | TENM4 | c.3412G>T (p.Val1138Leu) c.3460G>T (p.Val1154Leu) c.3385G>T (p.Val1129Leu) c.3361G>T (p.Val1121Leu) c.3256G>T (p.Val1086Leu) c.2299G>T (p.Val767Leu) c.913G>T (p.Val305Leu) c.856G>T (p.Val286Leu) c.3487G>T (p.Val1163Leu) | dbSNP gnomAD v2 |
| 11 | g.78726217C>T | CA251321 | TENM4 | c.3412G>A (p.Val1138Met) c.3460G>A (p.Val1154Met) c.3385G>A (p.Val1129Met) c.3361G>A (p.Val1121Met) c.3256G>A (p.Val1086Met) c.2299G>A (p.Val767Met) c.913G>A (p.Val305Met) c.856G>A (p.Val286Met) c.3487G>A (p.Val1163Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |