| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206935654:206935655(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1209dupG |
| AA Mutation |
p.Trp404ValfsTer3(p.W404Vfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206931803:206931803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2009-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIGR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206937424:206937424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.716A>G |
| AA Mutation |
p.Lys239Arg(p.K239R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206937407:206937407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.733G>A |
| AA Mutation |
p.Val245Ile(p.V245I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206937524:206937524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.616G>A |
| AA Mutation |
p.Val206Ile(p.V206I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206934563:206934563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1562A>C |
| AA Mutation |
p.Asp521Ala(p.D521A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356495 |
| Start |
206939249:206939249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776231853
|
| CDS Mutation |
c.258C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|