| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332509 |
| Start |
38132991:38132991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374007706
|
| CDS Mutation |
c.917G>A |
| AA Mutation |
p.Arg306Gln(p.R306Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332509 |
| Start |
38128354:38128354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375896475
|
| CDS Mutation |
c.1263C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000332509 |
| Start |
38129563:38129563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |