| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42777111dup | CA339836 | TTBK2 | c.1329dup (p.Arg444ThrfsTer7) c.1224dup (p.Arg409ThrfsTer7) c.2544dup (p.Arg849ThrfsTer7) c.1347dup (p.Arg450ThrfsTer7) c.1122dup (p.Arg375ThrfsTer7) c.1314dup (p.Arg439ThrfsTer7) c.1062dup (p.Arg355ThrfsTer7) c.1050dup (p.Arg351ThrfsTer7) | ClinVar dbSNP |
| 15 | g.42777111T= | CA3212163160 | TTBK2 | c.1329A= (p.Leu443=) c.1224A= (p.Leu408=) c.2544A= (p.Leu848=) c.1347A= (p.Leu449=) c.1122A= (p.Leu374=) c.1314A= (p.Leu438=) c.1062A= (p.Leu354=) c.1050A= (p.Leu350=) | dbSNP |