| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311106 |
| Start |
96416099:96416099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.643G>T |
| AA Mutation |
p.Glu215Ter(p.E215*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96412492:96412492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.710-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCSK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96425890:96425890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.326A>C |
| AA Mutation |
p.Lys109Thr(p.K109T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96393312:96393312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772483031
|
| CDS Mutation |
c.1951G>A |
| AA Mutation |
p.Val651Ile(p.V651I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96397427:96397427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1631C>T |
| AA Mutation |
p.Ser544Phe(p.S544F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96400099:96400099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759552679
|
| CDS Mutation |
c.1284G>T |
| AA Mutation |
p.Lys428Asn(p.K428N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96393303:96393303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200614230
|
| CDS Mutation |
c.1960C>T |
| AA Mutation |
p.Arg654Trp(p.R654W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311106 |
| Start |
96432992:96432992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774807858
|
| CDS Mutation |
c.51C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|