| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520810 |
| Start |
42272146:42272146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46G>A |
| AA Mutation |
p.Glu16Lys(p.E16K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000520810 |
| Start |
42320740:42320740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202131707
|
| CDS Mutation |
c.1584C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000520810 |
| Start |
42272145:42272145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.45G>A |
| AA Mutation |
p.Trp15Ter(p.W15*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |