| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293897 |
| Start |
1079733:1079733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769578728
|
| CDS Mutation |
c.865G>A |
| AA Mutation |
p.Val289Met(p.V289M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293897 |
| Start |
1079206:1079206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200422161
|
| CDS Mutation |
c.338G>A |
| AA Mutation |
p.Arg113His(p.R113H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293897 |
| Start |
1079709:1079709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753188838
|
| CDS Mutation |
c.841G>A |
| AA Mutation |
p.Ala281Thr(p.A281T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |