| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000536262 |
| Start |
101166696:101166696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1324G>T |
| AA Mutation |
p.Ala442Ser(p.A442S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000536262 |
| Start |
101182914:101182914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1054A>G |
| AA Mutation |
p.Thr352Ala(p.T352A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000536262 |
| Start |
101190542:101190542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.759G>A |
| AA Mutation |
p.Trp253Ter(p.W253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |