| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301141 |
| Start |
40846991:40846991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.715C>G |
| AA Mutation |
p.Gln239Glu(p.Q239E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301141 |
| Start |
40849838:40849838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.323A>G |
| AA Mutation |
p.Asp108Gly(p.D108G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301141 |
| Start |
40848330:40848330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.543C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |