| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256999 |
| Start |
49200409:49200409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.257C>G |
| AA Mutation |
p.Thr86Arg(p.T86R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256999 |
| Start |
49154239:49154239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1877G>T |
| AA Mutation |
p.Ser626Ile(p.S626I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256999 |
| Start |
49183153:49183153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916C>A |
| AA Mutation |
p.Leu306Ile(p.L306I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |