| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000447370 |
| Start |
49958568:49958568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1366C>T |
| AA Mutation |
p.Pro456Ser(p.P456S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000447370 |
| Start |
49960571:49960571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370593875
|
| CDS Mutation |
c.441G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000447370 |
| Start |
49960423:49960423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.461-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |