| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140800507:140800507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Trp(p.R349W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140789523:140789523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748726361
|
| CDS Mutation |
c.1128G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000521059 |
| Start |
140735381:140735381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1900C>T |
| AA Mutation |
p.Arg634Ter(p.R634*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |