| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000419735 |
| Start |
105876493:105876494(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.65dupA |
| AA Mutation |
p.Gln23AlafsTer59(p.Q23Afs*59) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000419735 |
| Start |
105638364:105638365(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1186_1190dupAACTC |
| AA Mutation |
p.Val398ThrfsTer13(p.V398Tfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATXN7L1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000419735 |
| Start |
105620208:105620208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1509G>T |
| AA Mutation |
p.Gln503His(p.Q503H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|