| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378412 |
| Start |
2591579:2591579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199987335
|
| CDS Mutation |
c.2218G>A |
| AA Mutation |
p.Val740Ile(p.V740I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378412 |
| Start |
2596652:2596652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150030274
|
| CDS Mutation |
c.1310G>A |
| AA Mutation |
p.Arg437His(p.R437H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378412 |
| Start |
2598671:2598671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368809746
|
| CDS Mutation |
c.1161C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |