| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454349 |
| Start |
40265251:40265251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1021C>G |
| AA Mutation |
p.Gln341Glu(p.Q341E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000454349 |
| Start |
40312614:40312614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4545A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000454349 |
| Start |
40266448:40266448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2218C>T |
| AA Mutation |
p.Gln740Ter(p.Q740*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |