| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29113912:29113912(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2078delG |
| AA Mutation |
p.Gly693AlafsTer24(p.G693Afs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29093073:29093073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1070-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APBA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29054491:29054491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764880305
|
| CDS Mutation |
c.607G>A |
| AA Mutation |
p.Gly203Arg(p.G203R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29054227:29054227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343G>T |
| AA Mutation |
p.Asp115Tyr(p.D115Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29094312:29094312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766376050
|
| CDS Mutation |
c.1250C>T |
| AA Mutation |
p.Ala417Val(p.A417V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29101713:29101713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763554780
|
| CDS Mutation |
c.1453G>A |
| AA Mutation |
p.Glu485Lys(p.E485K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29054040:29054040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.156G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000558259 |
| Start |
29114010:29114010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372298403
|
| CDS Mutation |
c.2172C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|