| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296577 |
| Start |
145104509:145104509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.97C>T |
| AA Mutation |
p.Arg33Ter(p.R33*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145123356:145123357(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1516_1517insCA |
| AA Mutation |
p.Arg506ProfsTer24(p.R506Pfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145108082:145108082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.257G>A |
| AA Mutation |
p.Arg86Gln(p.R86Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145123030:145123030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs550948053
|
| CDS Mutation |
c.1273C>T |
| AA Mutation |
p.Arg425Cys(p.R425C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145109200:145109200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.356C>G |
| AA Mutation |
p.Ala119Gly(p.A119G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|