| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150389947dup | CA269768 | TCOF1 | c.3107dup (p.Ser1036ArgfsTer28) c.3107dup (p.Ser1036ArgfsTer?) c.2876dup (p.Ser959ArgfsTer28) c.2506dup c.2876dup (p.Ser959ArgfsTer?) n.1dup c.541dup c.3218dup (p.Ser1073ArgfsTer28) n.1907dup c.343-6796dup (n.343-6796dup) c.3218dup (p.Ser1073ArgfsTer?) c.3215dup (p.Ser1072ArgfsTer?) c.2987dup (p.Ser996ArgfsTer?) c.3038dup (p.Ser1013ArgfsTer?) n.3222dup n.3111dup c.2927dup (p.Ser976ArgfsTer?) c.2927dup (p.Ser976ArgfsTer28) n.3224dup n.3113dup | ClinVar dbSNP |
| 5 | g.150389947G= | CA3123573864 | TCOF1 | c.3107G= (p.Ser1036=) c.2876G= (p.Ser959=) c.2506G= n.1G= c.541G= c.3218G= (p.Ser1073=) n.1907G= c.343-6796G= (n.343-6796G=) c.3215G= (p.Ser1072=) c.2987G= (p.Ser996=) c.3038G= (p.Ser1013=) n.3222G= n.3111G= c.2927G= (p.Ser976=) n.3224G= n.3113G= | dbSNP |