| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55305526:55305526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1830C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55287299:55287299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.317T>A |
| AA Mutation |
p.Leu106Ter(p.L106*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000309383 |
| Start |
55304111:55304112(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1347+2_1347+4dupTAA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |