| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259254 |
| Start |
126696128:126696128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373G>C |
| AA Mutation |
p.Glu125Gln(p.E125Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259254 |
| Start |
126695969:126695969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200879714
|
| CDS Mutation |
c.214G>A |
| AA Mutation |
p.Val72Ile(p.V72I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259254 |
| Start |
126656292:126656292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.29C>T |
| AA Mutation |
p.Thr10Met(p.T10M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |