| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282470 |
| Start |
87494329:87494329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.471C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282470 |
| Start |
87479547:87479547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770742502
|
| CDS Mutation |
c.1849C>T |
| AA Mutation |
p.Arg617Ter(p.R617*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000282470 |
| Start |
87494400:87494401(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.399dupA |
| AA Mutation |
p.Leu134ThrfsTer6(p.L134Tfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |