| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190982484:190982484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770809861
|
| CDS Mutation |
c.1481G>A |
| AA Mutation |
p.Arg494Gln(p.R494Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190985638:190985638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1244C>A |
| AA Mutation |
p.Ala415Asp(p.A415D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190975862:190975862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2085C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |