| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000052754 |
| Start |
91153173:91153173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.669T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000052754 |
| Start |
91164647:91164647(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.282delC |
| AA Mutation |
p.Glu95LysfsTer10(p.E95Kfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000052754 |
| Start |
91158437:91158437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.397C>T |
| AA Mutation |
p.Arg133Ter(p.R133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |