| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47798833dup | CA658655714 | FBXO11,MSH6 | c.553dup (p.Asp185GlyfsTer2) c.850dup (p.Asp284GlyfsTer2) n.934dup c.856dup (p.Asp286GlyfsTer2) c.627+2770dup (n.627+2770dup) c.7dup (p.Asp3GlyfsTer2) c.460dup (p.Asp154GlyfsTer2) n.572dup c.169+9366dup (n.169+9366dup) c.*124+9165dup (n.*124+9165dup) c.*197dup (n.*197dup) c.*338dup (n.*338dup) c.-57dup (n.-57dup) c.847dup (p.Asp283GlyfsTer2) c.-2247dup (n.-2247dup) c.667dup (p.Asp223GlyfsTer2) | ClinVar dbSNP |
| 2 | g.47798831_47798833dup | CA073501 | FBXO11,MSH6 | c.551_553dup (p.Gly184_Asp185insGly) c.848_850dup (p.Gly283_Asp284insGly) n.932_934dup c.854_856dup (p.Gly285_Asp286insGly) c.627+2768_627+2770dup (n.627+2768_627+2770dup) c.5_7dup (p.Gly2_Asp3insGly) c.458_460dup (p.Gly153_Asp154insGly) n.570_572dup c.169+9364_169+9366dup (n.169+9364_169+9366dup) c.*124+9163_*124+9165dup (n.*124+9163_*124+9165dup) c.*195_*197dup (n.*195_*197dup) c.*336_*338dup (n.*336_*338dup) c.-59_-57dup (n.-59_-57dup) c.845_847dup (p.Gly282_Asp283insGly) c.-2249_-2247dup (n.-2249_-2247dup) c.665_667dup (p.Gly222_Asp223insGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |