| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000505374 |
| Start |
55787871:55787871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1043C>T |
| AA Mutation |
p.Ala348Val(p.A348V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000505374 |
| Start |
55786533:55786533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757404630
|
| CDS Mutation |
c.880A>G |
| AA Mutation |
p.Asn294Asp(p.N294D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000505374 |
| Start |
55785802:55785802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.795C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |