| Mutation ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000288602 |
| Start |
140778037:140778051(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1457_1471delATGTGACAGCACCTA |
| AA Mutation |
p.Asn486_Pro490del(p.N486_P490del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000288602 |
| Start |
140778062:140778063(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1445_1446insCTTTCTCTG |
| AA Mutation |
p.Val482_Lys483insPheLeuTrp(p.V482_K483insFLW) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BRAF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140776986:140776986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1620T>G |
| AA Mutation |
p.His540Gln(p.H540Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140801531:140801531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs397509343
|
| CDS Mutation |
c.741T>G |
| AA Mutation |
p.Phe247Leu(p.F247L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140753336:140753336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113488022
|
| CDS Mutation |
c.1799T>A |
| AA Mutation |
p.Val600Glu(p.V600E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140800460:140800460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.882C>A |
| AA Mutation |
p.Phe294Leu(p.F294L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140800373:140800373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768134774
|
| CDS Mutation |
c.969G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000288602 |
| Start |
140801410:140801410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.860+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|