| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78870931:78870931(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1380delG |
| AA Mutation |
p.Gln460HisfsTer60(p.Q460Hfs*60) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000335016 |
| Start |
78872713:78872713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1708G>T |
| AA Mutation |
p.Glu570Ter(p.E570*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BMP2K
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78878844:78878844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1904T>C |
| AA Mutation |
p.Leu635Ser(p.L635S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78911989:78911989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754970059
|
| CDS Mutation |
c.3442G>A |
| AA Mutation |
p.Glu1148Lys(p.E1148K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78850932:78850932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.759A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78861421:78861421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753792637
|
| CDS Mutation |
c.1020G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335016 |
| Start |
78911865:78911865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3318T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|