| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9535887:9535887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199524645
|
| CDS Mutation |
c.397G>A |
| AA Mutation |
p.Asp133Asn(p.D133N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9555533:9555533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.73G>A |
| AA Mutation |
p.Gly25Ser(p.G25S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9523334:9523334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.758A>T |
| AA Mutation |
p.Glu253Val(p.E253V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |