| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377942 |
| Start |
52847635:52847635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802C>A |
| AA Mutation |
p.Leu268Met(p.L268M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377942 |
| Start |
52848223:52848223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214T>A |
| AA Mutation |
p.Ser72Thr(p.S72T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377942 |
| Start |
52848002:52848002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.435C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |