| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44829251:44829251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1277G>A |
| AA Mutation |
p.Gly426Asp(p.G426D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44828086:44828086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1815C>A |
| AA Mutation |
p.His605Gln(p.H605Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44842017:44842017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.95C>T |
| AA Mutation |
p.Ala32Val(p.A32V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |