| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249636 |
| Start |
68187596:68187596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1717G>T |
| AA Mutation |
p.Asp573Tyr(p.D573Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000249636 |
| Start |
68187640:68187640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1761G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000249636 |
| Start |
68086747:68086751(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.466_469+1delCTAGG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |