| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290158 |
| Start |
47673126:47673126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1656G>T |
| AA Mutation |
p.Leu552Phe(p.L552F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290158 |
| Start |
47652808:47652808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214A>G |
| AA Mutation |
p.Ile72Val(p.I72V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290158 |
| Start |
47661146:47661146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664G>A |
| AA Mutation |
p.Val222Ile(p.V222I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |