| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359396 |
| Start |
142874538:142874538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1405G>A |
| AA Mutation |
p.Ala469Thr(p.A469T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359396 |
| Start |
142877259:142877259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769078836
|
| CDS Mutation |
c.370G>A |
| AA Mutation |
p.Ala124Thr(p.A124T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359396 |
| Start |
142871773:142871773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2112G>T |
| AA Mutation |
p.Arg704Ser(p.R704S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |