| Mutation ID |
30 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000545128 |
| Start |
76071731:76071731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.727C>T |
| AA Mutation |
p.Arg243Ter(p.R243*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000545128 |
| Start |
76296663:76296663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3323-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCSK5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000545128 |
| Start |
76175058:76175058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1829C>T |
| AA Mutation |
p.Pro610Leu(p.P610L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000545128 |
| Start |
76332523:76332523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4580G>A |
| AA Mutation |
p.Cys1527Tyr(p.C1527Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|