| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256733 |
| Start |
18245457:18245457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373197707
|
| CDS Mutation |
c.289G>A |
| AA Mutation |
p.Asp97Asn(p.D97N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256733 |
| Start |
18245969:18245969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.171G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256733 |
| Start |
18245406:18245406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773008129
|
| CDS Mutation |
c.340C>T |
| AA Mutation |
p.Arg114Ter(p.R114*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |