| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90881727:90881727(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2239delG |
| AA Mutation |
p.Val747Ter(p.V747*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000268171 |
| Start |
90877180:90877180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547C>T |
| AA Mutation |
p.Gln183Ter(p.Q183*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FURIN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90878266:90878266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770393100
|
| CDS Mutation |
c.802C>T |
| AA Mutation |
p.Arg268Cys(p.R268C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90881726:90881726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774601294
|
| CDS Mutation |
c.2233C>T |
| AA Mutation |
p.Arg745Trp(p.R745W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|