| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238253256:238253256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2767G>A |
| AA Mutation |
p.Ala923Thr(p.A923T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238253320:238253320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs575531966
|
| CDS Mutation |
c.2703G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238258645:238258645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1628-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |