| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226796948:226796948(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs765346312
|
| CDS Mutation |
c.1791delG |
| AA Mutation |
p.His598ThrfsTer38(p.H598Tfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226797636:226797636(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1103delC |
| AA Mutation |
p.Pro368ArgfsTer95(p.P368Rfs*95) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IRS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226797885:226797885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765204298
|
| CDS Mutation |
c.854G>A |
| AA Mutation |
p.Arg285His(p.R285H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226795783:226795783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767686104
|
| CDS Mutation |
c.2956C>T |
| AA Mutation |
p.Arg986Trp(p.R986W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226798681:226798681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.58C>T |
| AA Mutation |
p.Arg20Cys(p.R20C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226798039:226798039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.700G>A |
| AA Mutation |
p.Gly234Arg(p.G234R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226795063:226795063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3676T>G |
| AA Mutation |
p.Leu1226Val(p.L1226V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305123 |
| Start |
226796007:226796007(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2732delG |
| AA Mutation |
p.Gly911AlafsTer32(p.G911Afs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000305123 |
| Start |
226796212:226796212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2527C>T |
| AA Mutation |
p.Arg843Ter(p.R843*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|