| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244769 |
| Start |
16306642:16306643(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2134_2135delAA |
| AA Mutation |
p.Lys712GlyfsTer28(p.K712Gfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244769 |
| Start |
16327617:16327618(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.693_694insCGTGTGT |
| AA Mutation |
p.Gly232ArgfsTer81(p.G232Rfs*81) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATXN1
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000244769 |
| Start |
16326949:16326949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775283430
|
| CDS Mutation |
c.1362C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000244769 |
| Start |
16326913:16326913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144916658
|
| CDS Mutation |
c.1398C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244769 |
| Start |
16326932:16326932(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1379delC |
| AA Mutation |
p.Pro460LeufsTer6(p.P460Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000244769 |
| Start |
16327906:16327906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.405C>A |
| AA Mutation |
p.Tyr135Ter(p.Y135*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|