| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314922 |
| Start |
56441594:56441594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.482T>A |
| AA Mutation |
p.Leu161Gln(p.L161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314922 |
| Start |
56441798:56441798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.278G>A |
| AA Mutation |
p.Ser93Asn(p.S93N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_retained_variant |
| Transcription ID |
ENST00000314922 |
| Start |
56441273:56441273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.803A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |