| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348428 |
| Start |
58747640:58747640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2273A>G |
| AA Mutation |
p.His758Arg(p.H758R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000348428 |
| Start |
58735274:58735274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1548A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000348428 |
| Start |
58734382:58734382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1475+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |