| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39968149:39968149(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572delC |
| AA Mutation |
p.Pro191ArgfsTer49(p.P191Rfs*49) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39968148:39968149(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572dupC |
| AA Mutation |
p.Thr192AspfsTer47(p.T192Dfs*47) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GRAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39955884:39955884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.144G>T |
| AA Mutation |
p.Lys48Asn(p.K48N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39960091:39960091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.207G>T |
| AA Mutation |
p.Glu69Asp(p.E69D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39966097:39966097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.398G>T |
| AA Mutation |
p.Arg133Met(p.R133M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39966110:39966110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.411C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344138 |
| Start |
39969461:39969461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.741C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344138 |
| Start |
39968243:39968243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs180677935
|
| CDS Mutation |
c.661C>T |
| AA Mutation |
p.Arg221Ter(p.R221*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|