| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30911010:30911010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1550G>T |
| AA Mutation |
p.Cys517Phe(p.C517F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30924225:30924225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1274G>A |
| AA Mutation |
p.Arg425Gln(p.R425Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349752 |
| Start |
30966273:30966273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.329T>G |
| AA Mutation |
p.Leu110Arg(p.L110R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |