Gene >> CASK
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378163 |
| Start |
41665382:41665382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603C>A |
| AA Mutation |
p.Asp201Glu(p.D201E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378163 |
| Start |
41660513:41660513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.757G>A |
| AA Mutation |
p.Val253Ile(p.V253I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |