| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30932119:30932119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368328840
|
| CDS Mutation |
c.1007G>A |
| AA Mutation |
p.Arg336Gln(p.R336Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30942284:30942284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.848G>T |
| AA Mutation |
p.Gly283Val(p.G283V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30942285:30942285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.847G>T |
| AA Mutation |
p.Gly283Trp(p.G283W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |