| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257264 |
| Start |
59855940:59855940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.866A>T |
| AA Mutation |
p.Gln289Leu(p.Q289L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257264 |
| Start |
59855882:59855882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.924C>A |
| AA Mutation |
p.Cys308Ter(p.C308*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257264 |
| Start |
59853236:59853236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759084692
|
| CDS Mutation |
c.1207G>T |
| AA Mutation |
p.Glu403Ter(p.E403*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |