| ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278616 |
| Start |
108304719:108304719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5541T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000278616 |
| Start |
108256305:108256305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2215G>T |
| AA Mutation |
p.Glu739Ter(p.E739*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000278616 |
| Start |
108334967:108334967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8011-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |