| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112472284:112472284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1113delA |
| AA Mutation |
p.Lys371AsnfsTer35(p.K371Nfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000005558 |
| Start |
112456049:112456049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.247A>T |
| AA Mutation |
p.Lys83Ter(p.K83*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IFRD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112472844:112472844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1249A>G |
| AA Mutation |
p.Ile417Val(p.I417V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112462047:112462047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768313404
|
| CDS Mutation |
c.665C>A |
| AA Mutation |
p.Ser222Tyr(p.S222Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000005558 |
| Start |
112472781:112472781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1186C>T |
| AA Mutation |
p.Arg396Ter(p.R396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|