| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16051793dup | CA10654911 | CLCNKB | c.1381dup (p.Ile461AsnfsTer?) c.*1123dup (n.*1123dup) n.996dup n.2916dup n.758dup n.842dup c.874dup (p.Ile292AsnfsTer?) c.1000dup (p.Ile334AsnfsTer?) c.1222dup (p.Ile408AsnfsTer?) c.730dup (p.Ile244AsnfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16051793A= | CA3071928938 | CLCNKB | c.1381A= (p.Ile461=) c.*1123A= (n.*1123A=) n.996A= n.2916A= n.758A= n.842A= c.874A= (p.Ile292=) c.1000A= (p.Ile334=) c.1222A= (p.Ile408=) c.730A= (p.Ile244=) | dbSNP |