| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000070846 |
| Start |
32878283:32878283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.597C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000070846 |
| Start |
32850776:32850776(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1368delA |
| AA Mutation |
p.Lys456AsnfsTer3(p.K456Nfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PKP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000070846 |
| Start |
32878192:32878192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543281875
|
| CDS Mutation |
c.688G>A |
| AA Mutation |
p.Val230Ile(p.V230I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000070846 |
| Start |
32824127:32824127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1724C>T |
| AA Mutation |
p.Ala575Val(p.A575V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000070846 |
| Start |
32878229:32878229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.651C>A |
| AA Mutation |
p.Tyr217Ter(p.Y217*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|