| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375826 |
| Start |
15578902:15578902(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.677delG |
| AA Mutation |
p.Gly226AlafsTer19(p.G226Afs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375826 |
| Start |
15583331:15583331(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.337delG |
| AA Mutation |
p.Ala113ProfsTer12(p.A113Pfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AGMAT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375826 |
| Start |
15574805:15574805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199886325
|
| CDS Mutation |
c.937G>A |
| AA Mutation |
p.Val313Met(p.V313M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375826 |
| Start |
15583292:15583292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.376G>A |
| AA Mutation |
p.Asp126Asn(p.D126N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375826 |
| Start |
15580128:15580128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.490A>C |
| AA Mutation |
p.Ile164Leu(p.I164L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375826 |
| Start |
15583370:15583370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.298G>T |
| AA Mutation |
p.Glu100Ter(p.E100*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|