| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317011 |
| Start |
118979170:118979170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144422939
|
| CDS Mutation |
c.350G>A |
| AA Mutation |
p.Arg117Gln(p.R117Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317011 |
| Start |
118979635:118979635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.578G>C |
| AA Mutation |
p.Gly193Ala(p.G193A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317011 |
| Start |
118979519:118979519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.462C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |