| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343694 |
| Start |
45313575:45313575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566580473
|
| CDS Mutation |
c.727C>T |
| AA Mutation |
p.Arg243Ter(p.R243*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343694 |
| Start |
45311597:45311598(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761146769
|
| CDS Mutation |
c.272dupC |
| AA Mutation |
p.Pro92AlafsTer44(p.P92Afs*44) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RBPJL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343694 |
| Start |
45313512:45313512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775092652
|
| CDS Mutation |
c.664C>T |
| AA Mutation |
p.Arg222Cys(p.R222C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343694 |
| Start |
45312226:45312226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751507015
|
| CDS Mutation |
c.450C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343694 |
| Start |
45316896:45316896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1491G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|