| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359273 |
| Start |
218662548:218662548(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.758T>C |
| AA Mutation |
p.Leu253Pro(p.L253P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359273 |
| Start |
218661894:218661895(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.596_597insTT |
| AA Mutation |
p.Arg200SerfsTer56(p.R200Sfs*56) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BCS1L
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359273 |
| Start |
218662561:218662561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148302981
|
| CDS Mutation |
c.771G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359273 |
| Start |
218661854:218661854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779331797
|
| CDS Mutation |
c.556C>T |
| AA Mutation |
p.Arg186Ter(p.R186*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|