| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216780 |
| Start |
24099189:24099189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754703826
|
| CDS Mutation |
c.805G>A |
| AA Mutation |
p.Ala269Thr(p.A269T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216780 |
| Start |
24100041:24100041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1062C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000216780 |
| Start |
24096995:24096995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765232506
|
| CDS Mutation |
c.133C>T |
| AA Mutation |
p.Arg45Ter(p.R45*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |