| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309383 |
| Start |
55306393:55306393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2032C>T |
| AA Mutation |
p.Arg678Ter(p.R678*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55303667:55303668(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs781137898
|
| CDS Mutation |
c.1135dupC |
| AA Mutation |
p.Arg379ProfsTer54(p.R379Pfs*54) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BRSK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55303386:55303386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1104C>A |
| AA Mutation |
p.Asp368Glu(p.D368E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55303351:55303351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1069C>T |
| AA Mutation |
p.Arg357Trp(p.R357W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55287062:55287062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141208516
|
| CDS Mutation |
c.192C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55294373:55294373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.654A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|