| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273398 |
| Start |
113784716:113784716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767161754
|
| CDS Mutation |
c.447C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000273398 |
| Start |
113789830:113789833(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.981_984delTTAT |
| AA Mutation |
p.Tyr328LeufsTer18(p.Y328Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000273398 |
| Start |
113784373:113784373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.361G>T |
| AA Mutation |
p.Gly121Ter(p.G121*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |