| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113812371:113812371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1877G>C |
| AA Mutation |
p.Trp626Ser(p.W626S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113829322:113829322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934A>G |
| AA Mutation |
p.Thr312Ala(p.T312A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113801621:113801621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2920G>A |
| AA Mutation |
p.Glu974Lys(p.E974K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |