| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000476941 |
| Start |
142784717:142784717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.974C>T |
| AA Mutation |
p.Ser325Phe(p.S325F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000476941 |
| Start |
142802221:142802221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1634T>G |
| AA Mutation |
p.Leu545Arg(p.L545R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000476941 |
| Start |
142743500:142743500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |