| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179234297:179234297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913279
|
| CDS Mutation |
c.3140A>T |
| AA Mutation |
p.His1047Leu(p.H1047L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179199103:179199103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.278G>A |
| AA Mutation |
p.Arg93Gln(p.R93Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179218303:179218303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104886003
|
| CDS Mutation |
c.1633G>A |
| AA Mutation |
p.Glu545Lys(p.E545K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |