| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314574 |
| Start |
746023:746023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.499G>C |
| AA Mutation |
p.Asp167His(p.D167H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314574 |
| Start |
743079:743079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765723765
|
| CDS Mutation |
c.899C>T |
| AA Mutation |
p.Thr300Met(p.T300M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314574 |
| Start |
724581:724581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750831029
|
| CDS Mutation |
c.1475C>T |
| AA Mutation |
p.Pro492Leu(p.P492L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |