| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13631337:13631337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367781349
|
| CDS Mutation |
c.2953G>A |
| AA Mutation |
p.Glu985Lys(p.E985K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13631392:13631392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3008G>A |
| AA Mutation |
p.Gly1003Glu(p.G1003E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295760 |
| Start |
13618986:13618986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs545435806
|
| CDS Mutation |
c.2022G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |