| Mutation ID |
26 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000371959 |
| Start |
112779249:112779251(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs749110842
|
| CDS Mutation |
c.2903_2905delCTG |
| AA Mutation |
p.Ala968del(p.A968del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000371959 |
| Start |
112805067:112805069(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs774599150
|
| CDS Mutation |
c.1654_1656delGAG |
| AA Mutation |
p.Glu552del(p.E552del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMOT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371959 |
| Start |
112823008:112823008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.119A>G |
| AA Mutation |
p.Gln40Arg(p.Q40R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371959 |
| Start |
112779227:112779227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184054972
|
| CDS Mutation |
c.2927C>T |
| AA Mutation |
p.Pro976Leu(p.P976L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371959 |
| Start |
112782596:112782596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2184G>T |
| AA Mutation |
p.Gln728His(p.Q728H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371959 |
| Start |
112822719:112822719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.408C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371959 |
| Start |
112822411:112822411(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.716delC |
| AA Mutation |
p.Pro239HisfsTer14(p.P239Hfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|