| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263121 |
| Start |
23803395:23803395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.601C>T |
| AA Mutation |
p.Arg201Ter(p.R201*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263121 |
| Start |
23791869:23791870(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214dupA |
| AA Mutation |
p.Thr72AsnfsTer4(p.T72Nfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMARCB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000263121 |
| Start |
23833573:23833573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.988G>A |
| AA Mutation |
p.Glu330Lys(p.E330K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263121 |
| Start |
23825406:23825406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.977A>G |
| AA Mutation |
p.Tyr326Cys(p.Y326C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|