| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48467523_48467540del | CA345486 | ATRIP,TREX1 | c.*1969_*1986del (n.*1969_*1986del) c.451_468del (p.Pro151_Ala156del) c.868_885del (p.Pro290_Ala295del) c.3463_3480del c.838_855del (p.Pro280_Ala285del) c.1033_1050del (p.Pro345_Ala350del) c.*3688_*3705del (n.*3688_*3705del) n.2075_2092del c.3821_3838del (n.3821_3838del) n.4177_4194del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48467523_48467540dup | CA916887662 | ATRIP,TREX1 | c.*1969_*1986dup (n.*1969_*1986dup) c.451_468dup (p.Ala156_Ile157insProLeuGlyLeuLeuAla) c.868_885dup (p.Ala295_Ile296insProLeuGlyLeuLeuAla) c.3463_3480dup c.838_855dup (p.Ala285_Ile286insProLeuGlyLeuLeuAla) c.1033_1050dup (p.Ala350_Ile351insProLeuGlyLeuLeuAla) c.*3688_*3705dup (n.*3688_*3705dup) n.2075_2092dup c.3821_3838dup (n.3821_3838dup) n.4177_4194dup | dbSNP |