| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359785 |
| Start |
113837915:113837916(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1484_1485insTT |
| AA Mutation |
p.Glu496Ter(p.E496*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000359785 |
| Start |
113837916:113837917(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1483_1484insAGACAT |
| AA Mutation |
p.Ala495delinsGluThrSer(p.A495delinsETS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPN22
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359785 |
| Start |
113852057:113852057(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.798G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359785 |
| Start |
113833126:113833126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781638324
|
| CDS Mutation |
c.2038C>T |
| AA Mutation |
p.Arg680Ter(p.R680*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359785 |
| Start |
113837914:113837914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1486G>T |
| AA Mutation |
p.Glu496Ter(p.E496*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|