| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303460 |
| Start |
53985770:53985770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.511G>A |
| AA Mutation |
p.Glu171Lys(p.E171K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303460 |
| Start |
53985773:53985773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.514G>A |
| AA Mutation |
p.Ala172Thr(p.A172T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303460 |
| Start |
53985835:53985835(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.581delG |
| AA Mutation |
p.Gly194AlafsTer3(p.G194Afs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |