| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262545 |
| Start |
17465543:17465543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1420C>T |
| AA Mutation |
p.Gln474Ter(p.Q474*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262545 |
| Start |
17227417:17227418(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.112_113insGAAAAG |
| AA Mutation |
p.Leu38delinsTer(p.L38delins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCSK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17481879:17481879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs528344186
|
| CDS Mutation |
c.1726G>A |
| AA Mutation |
p.Gly576Ser(p.G576S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17465327:17465327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1204C>A |
| AA Mutation |
p.Leu402Met(p.L402M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17453816:17453816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750145708
|
| CDS Mutation |
c.960C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17453786:17453786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372965651
|
| CDS Mutation |
c.930C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17453843:17453843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.987C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17456365:17456365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs538265087
|
| CDS Mutation |
c.1119C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|