| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40396411:40396411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3592G>C |
| AA Mutation |
p.Gly1198Arg(p.G1198R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40417788:40417788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4G>A |
| AA Mutation |
p.Glu2Lys(p.E2K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000423485 |
| Start |
40416750:40416750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.167T>G |
| AA Mutation |
p.Leu56Ter(p.L56*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |