| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332272 |
| Start |
75478834:75478834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.995C>A |
| AA Mutation |
p.Ala332Asp(p.A332D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332272 |
| Start |
75479750:75479750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.79T>A |
| AA Mutation |
p.Ser27Thr(p.S27T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332272 |
| Start |
75479099:75479099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.730G>A |
| AA Mutation |
p.Glu244Lys(p.E244K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |