| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172469251:172469251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514T>A |
| AA Mutation |
p.Trp172Arg(p.W172R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172504117:172504117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377166246
|
| CDS Mutation |
c.3258C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172491424:172491424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3007-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |