| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389805 |
| Start |
179833107:179833107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.830G>T |
| AA Mutation |
p.Ser277Ile(p.S277I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389805 |
| Start |
179825186:179825186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.714G>C |
| AA Mutation |
p.Lys238Asn(p.K238N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389805 |
| Start |
179820944:179820944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777501273
|
| CDS Mutation |
c.8C>T |
| AA Mutation |
p.Ser3Leu(p.S3L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |