| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370192 |
| Start |
97306291:97306291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2065G>A |
| AA Mutation |
p.Glu689Lys(p.E689K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370192 |
| Start |
97595123:97595123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61758443
|
| CDS Mutation |
c.894G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000370192 |
| Start |
97193067:97193067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2622+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |