| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255499 |
| Start |
106727278:106727278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.365G>A |
| AA Mutation |
p.Arg122His(p.R122H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000255499 |
| Start |
106727006:106727006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.93G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000255499 |
| Start |
106727145:106727145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.232G>T |
| AA Mutation |
p.Glu78Ter(p.E78*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |