| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000225964 |
| Start |
50192807:50192807(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs72651620
|
| CDS Mutation |
c.1865delC |
| AA Mutation |
p.Pro622LeufsTer144(p.P622Lfs*144) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000225964 |
| Start |
50194768:50194768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs72648343
|
| CDS Mutation |
c.1414C>T |
| AA Mutation |
p.Arg472Ter(p.R472*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL1A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225964 |
| Start |
50196330:50196330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.941G>A |
| AA Mutation |
p.Gly314Glu(p.G314E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000225964 |
| Start |
50185508:50185508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4389C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|