| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305988 |
| Start |
148827531:148827531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.700G>C |
| AA Mutation |
p.Asp234His(p.D234H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305988 |
| Start |
148827385:148827385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.554A>G |
| AA Mutation |
p.Tyr185Cys(p.Y185C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305988 |
| Start |
148827430:148827430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.599C>T |
| AA Mutation |
p.Ala200Val(p.A200V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |