| 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 |
| 2 | g.47798830_47798833dup | CA2580067253 | FBXO11,MSH6 | c.550_553dup (p.Asp185GlyfsTer3) c.847_850dup (p.Asp284GlyfsTer3) n.931_934dup c.853_856dup (p.Asp286GlyfsTer3) c.627+2767_627+2770dup (n.627+2767_627+2770dup) c.4_7dup (p.Asp3GlyfsTer3) c.457_460dup (p.Asp154GlyfsTer3) n.569_572dup c.169+9363_169+9366dup (n.169+9363_169+9366dup) c.*124+9162_*124+9165dup (n.*124+9162_*124+9165dup) c.*194_*197dup (n.*194_*197dup) c.*335_*338dup (n.*335_*338dup) c.-60_-57dup (n.-60_-57dup) c.844_847dup (p.Asp283GlyfsTer3) c.-2250_-2247dup (n.-2250_-2247dup) c.664_667dup (p.Asp223GlyfsTer3) | ClinVar dbSNP |
| 2 | g.47798833del | CA3085585756 | FBXO11,MSH6 | c.553del (p.Asp185IlefsTer7) c.850del (p.Asp284IlefsTer7) n.934del c.856del (p.Asp286IlefsTer7) c.627+2770del (n.627+2770del) c.7del (p.Asp3IlefsTer7) c.460del (p.Asp154IlefsTer7) n.572del c.169+9366del (n.169+9366del) c.*124+9165del (n.*124+9165del) c.*197del (n.*197del) c.*338del (n.*338del) c.-57del (n.-57del) c.847del (p.Asp283IlefsTer7) c.-2247del (n.-2247del) c.667del (p.Asp223IlefsTer7) | dbSNP |