| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000360060 |
| Start |
146071147:146071148(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1933-3_1952dupCAGGGATTTGCACTACTGAATTT |
| AA Mutation |
p.Val652ArgfsTer6(p.V652Rfs*6) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360060 |
| Start |
146071125:146071125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780770356
|
| CDS Mutation |
c.1975C>T |
| AA Mutation |
p.Arg659Ter(p.R659*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLOD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360060 |
| Start |
146079132:146079132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758538664
|
| CDS Mutation |
c.1484G>A |
| AA Mutation |
p.Arg495Gln(p.R495Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360060 |
| Start |
146070823:146070823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776078472
|
| CDS Mutation |
c.2108G>A |
| AA Mutation |
p.Arg703Gln(p.R703Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360060 |
| Start |
146072602:146072602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1744G>T |
| AA Mutation |
p.Glu582Ter(p.E582*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|