| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269445 |
| Start |
49257014:49257014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1456A>T |
| AA Mutation |
p.Ile486Phe(p.I486F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269445 |
| Start |
49282139:49282139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.983T>A |
| AA Mutation |
p.Phe328Tyr(p.F328Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269445 |
| Start |
49286480:49286480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142473333
|
| CDS Mutation |
c.900G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |