| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328736 |
| Start |
88473769:88473769(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs778292578
|
| CDS Mutation |
c.2545delA |
| AA Mutation |
p.Ile849LeufsTer9(p.I849Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000328736 |
| Start |
88472359:88472360(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2755_2756insTTGTAACTTAA |
| AA Mutation |
p.Pro919LeufsTer4(p.P919Lfs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTPN21
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328736 |
| Start |
88470032:88470032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747979607
|
| CDS Mutation |
c.2890G>A |
| AA Mutation |
p.Glu964Lys(p.E964K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328736 |
| Start |
88501336:88501336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.620A>C |
| AA Mutation |
p.Tyr207Ser(p.Y207S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328736 |
| Start |
88469071:88469071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3241C>A |
| AA Mutation |
p.Leu1081Ile(p.L1081I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328736 |
| Start |
88472339:88472339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2776C>T |
| AA Mutation |
p.Arg926Ter(p.R926*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328736 |
| Start |
88505324:88505324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496A>T |
| AA Mutation |
p.Lys166Ter(p.K166*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|