| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356792 |
| Start |
125723816:125723816(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.396delA |
| AA Mutation |
p.Lys132AsnfsTer3(p.K132Nfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356792 |
| Start |
125738432:125738433(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1973dupT |
| AA Mutation |
p.Leu658PhefsTer26(p.L658Ffs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EDRF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356792 |
| Start |
125733473:125733473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1198A>C |
| AA Mutation |
p.Lys400Gln(p.K400Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356792 |
| Start |
125747911:125747911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774999781
|
| CDS Mutation |
c.3022G>A |
| AA Mutation |
p.Asp1008Asn(p.D1008N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356792 |
| Start |
125743104:125743104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2418C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356792 |
| Start |
125735791:125735791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1645G>T |
| AA Mutation |
p.Gly549Ter(p.G549*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|