| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316448 |
| Start |
12943899:12943899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1240A>G |
| AA Mutation |
p.Lys414Glu(p.K414E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316448 |
| Start |
12943866:12943866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1207G>T |
| AA Mutation |
p.Glu403Ter(p.E403*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316448 |
| Start |
12943863:12943863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1204G>T |
| AA Mutation |
p.Glu402Ter(p.E402*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |