| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221431 |
| Start |
38930693:38930693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.44G>A |
| AA Mutation |
p.Arg15His(p.R15H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221431 |
| Start |
38918000:38918000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.971G>T |
| AA Mutation |
p.Cys324Phe(p.C324F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221431 |
| Start |
38930575:38930575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.162A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |