| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99808195:99808195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777261910
|
| CDS Mutation |
c.1781G>A |
| AA Mutation |
p.Ser594Asn(p.S594N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99842089:99842089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3737T>A |
| AA Mutation |
p.Leu1246His(p.L1246H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99830778:99830778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2810A>G |
| AA Mutation |
p.Asn937Ser(p.N937S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |