| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373664 |
| Start |
37055603:37055603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1417G>A |
| AA Mutation |
p.Glu473Lys(p.E473K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373664 |
| Start |
37035456:37035456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150960998
|
| CDS Mutation |
c.1956C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373664 |
| Start |
37003743:37003743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2995A>T |
| AA Mutation |
p.Arg999Ter(p.R999*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |