| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140562858:140562858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2260T>G |
| AA Mutation |
p.Tyr754Asp(p.Y754D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140404675:140404675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.546G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000458420 |
| Start |
140404693:140404693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.564C>A |
| AA Mutation |
p.Cys188Ter(p.C188*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |