| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000611156 |
| Start |
133256233:133256233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.495C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000611156 |
| Start |
133257407:133257407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.371+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000611156 |
| Start |
133255666:133255666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1062A>G |
| AA Mutation |
p.Ter354TrpextTer38(p.*354Wext*38) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |