| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373647 |
| Start |
123098762:123098763(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs768477276
|
| CDS Mutation |
c.2789dupA |
| AA Mutation |
p.Asn930LysfsTer7(p.N930Kfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373647 |
| Start |
123076728:123076729(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2397dupA |
| AA Mutation |
p.Leu800ThrfsTer11(p.L800Tfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RABGAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000373647 |
| Start |
123099547:123099547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199744049
|
| CDS Mutation |
c.2887C>T |
| AA Mutation |
p.Arg963Trp(p.R963W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373647 |
| Start |
123010462:123010462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1483C>T |
| AA Mutation |
p.Arg495Cys(p.R495C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373647 |
| Start |
123073636:123073636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2068G>T |
| AA Mutation |
p.Asp690Tyr(p.D690Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373647 |
| Start |
122989462:122989462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.756A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|