| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299001 |
| Start |
94619833:94619833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2242C>A |
| AA Mutation |
p.Gln748Lys(p.Q748K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299001 |
| Start |
94620893:94620893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2460A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299001 |
| Start |
94583540:94583540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.606C>A |
| AA Mutation |
p.Cys202Ter(p.C202*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |