| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5302167:5302167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1028A>C |
| AA Mutation |
p.Tyr343Ser(p.Y343S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5314358:5314358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12G>T |
| AA Mutation |
p.Gln4His(p.Q4H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PROKR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5313961:5313961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139259742
|
| CDS Mutation |
c.409G>A |
| AA Mutation |
p.Val137Ile(p.V137I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5302279:5302279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199696443
|
| CDS Mutation |
c.916G>A |
| AA Mutation |
p.Val306Met(p.V306M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5302092:5302092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1103G>T |
| AA Mutation |
p.Arg368Ile(p.R368I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5302268:5302268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.927G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000217270 |
| Start |
5302469:5302469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.726C>A |
| AA Mutation |
p.Cys242Ter(p.C242*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000217270 |
| Start |
5302737:5302737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.459-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|