| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285979 |
| Start |
94688202:94688202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.409G>T |
| AA Mutation |
p.Gly137Trp(p.G137W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285979 |
| Start |
94724433:94724433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1049C>A |
| AA Mutation |
p.Ala350Asp(p.A350D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000285979 |
| Start |
94733439:94733439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1291+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |