| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58098794:58098794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1231A>G |
| AA Mutation |
p.Asn411Asp(p.N411D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58121474:58121474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3097G>A |
| AA Mutation |
p.Glu1033Lys(p.E1033K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295956 |
| Start |
58148333:58148333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5856T>A |
| AA Mutation |
p.Cys1952Ter(p.C1952*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |