| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334636 |
| Start |
14880561:14880561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.575A>C |
| AA Mutation |
p.Asn192Thr(p.N192T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334636 |
| Start |
14891985:14891985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.221G>C |
| AA Mutation |
p.Gly74Ala(p.G74A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334636 |
| Start |
14880220:14880220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916G>T |
| AA Mutation |
p.Glu306Ter(p.E306*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |