| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54778612:54778612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665G>A |
| AA Mutation |
p.Gly222Glu(p.G222E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54773497:54773497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.235G>A |
| AA Mutation |
p.Gly79Arg(p.G79R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336077 |
| Start |
54773600:54773600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.338C>T |
| AA Mutation |
p.Ala113Val(p.A113V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |