| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276297 |
| Start |
13094849:13094849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3436G>T |
| AA Mutation |
p.Val1146Leu(p.V1146L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276297 |
| Start |
13499242:13499242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.830G>A |
| AA Mutation |
p.Cys277Tyr(p.C277Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276297 |
| Start |
13401592:13401592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144283917
|
| CDS Mutation |
c.1051C>T |
| AA Mutation |
p.Arg351Trp(p.R351W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |