| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99347045:99347045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753360532
|
| CDS Mutation |
c.220G>A |
| AA Mutation |
p.Val74Met(p.V74M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99345221:99345221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.305G>A |
| AA Mutation |
p.Arg102Lys(p.R102K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99344870:99344870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.559G>T |
| AA Mutation |
p.Val187Phe(p.V187F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |