| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378538 |
| Start |
47359951:47359951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772416102
|
| CDS Mutation |
c.232C>A |
| AA Mutation |
p.Pro78Thr(p.P78T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378538 |
| Start |
47355427:47355427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.613C>G |
| AA Mutation |
p.His205Asp(p.H205D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378538 |
| Start |
47359929:47359929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.254A>G |
| AA Mutation |
p.Tyr85Cys(p.Y85C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |