| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310160 |
| Start |
48751124:48751124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.158C>A |
| AA Mutation |
p.Ala53Asp(p.A53D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310160 |
| Start |
48750305:48750305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.977C>G |
| AA Mutation |
p.Ala326Gly(p.A326G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310160 |
| Start |
48750240:48750240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1042G>T |
| AA Mutation |
p.Glu348Ter(p.E348*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |