| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370830 |
| Start |
55874471:55874471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755749791
|
| CDS Mutation |
c.395C>T |
| AA Mutation |
p.Thr132Met(p.T132M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370830 |
| Start |
55874582:55874582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.284A>T |
| AA Mutation |
p.Glu95Val(p.E95V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370830 |
| Start |
55759089:55759089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184900087
|
| CDS Mutation |
c.1131C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |