| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263431 |
| Start |
53889645:53889645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.293G>A |
| AA Mutation |
p.Arg98Gln(p.R98Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263431 |
| Start |
53898455:53898455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1108C>T |
| AA Mutation |
p.Arg370Cys(p.R370C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263431 |
| Start |
53900470:53900470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756913177
|
| CDS Mutation |
c.1425C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |