| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361727 |
| Start |
147977979:147977979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2373C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361727 |
| Start |
147128822:147128822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1069G>T |
| AA Mutation |
p.Glu357Ter(p.E357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000361727 |
| Start |
147562136:147562136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1778-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |