| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381309 |
| Start |
6986499:6986499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774702584
|
| CDS Mutation |
c.1510G>A |
| AA Mutation |
p.Glu504Lys(p.E504K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381309 |
| Start |
7011848:7011848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1937C>T |
| AA Mutation |
p.Ala646Val(p.A646V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381309 |
| Start |
7013942:7013942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2123A>T |
| AA Mutation |
p.Glu708Val(p.E708V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |