| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316073 |
| Start |
152155776:152155776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1323G>T |
| AA Mutation |
p.Gln441His(p.Q441H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316073 |
| Start |
152155856:152155856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1243T>A |
| AA Mutation |
p.Tyr415Asn(p.Y415N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316073 |
| Start |
152154960:152154960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2139T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |