| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000543264 |
| Start |
4280341:4280341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.278T>A |
| AA Mutation |
p.Leu93Gln(p.L93Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000543264 |
| Start |
4288323:4288323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.797T>G |
| AA Mutation |
p.Leu266Arg(p.L266R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000543264 |
| Start |
4290535:4290535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750616574
|
| CDS Mutation |
c.925G>A |
| AA Mutation |
p.Val309Met(p.V309M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |