| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301242 |
| Start |
38252959:38252959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576186615
|
| CDS Mutation |
c.217G>A |
| AA Mutation |
p.Asp73Asn(p.D73N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301242 |
| Start |
38251424:38251424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.338C>T |
| AA Mutation |
p.Ala113Val(p.A113V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301242 |
| Start |
38251401:38251401(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.361C>T |
| AA Mutation |
p.Gln121Ter(p.Q121*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |