| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292494 |
| Start |
143021739:143021739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.346G>A |
| AA Mutation |
p.Ala116Thr(p.A116T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000292494 |
| Start |
143021633:143021633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.240C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000292494 |
| Start |
143021434:143021434(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.172+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |