| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324103 |
| Start |
24148376:24148376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.458T>C |
| AA Mutation |
p.Val153Ala(p.V153A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324103 |
| Start |
24151207:24151207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1565A>T |
| AA Mutation |
p.Gln522Leu(p.Q522L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324103 |
| Start |
24148067:24148067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.284G>A |
| AA Mutation |
p.Trp95Ter(p.W95*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |