| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261503 |
| Start |
20231787:20231787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2101T>C |
| AA Mutation |
p.Ser701Pro(p.S701P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261503 |
| Start |
20232375:20232375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2321G>T |
| AA Mutation |
p.Gly774Val(p.G774V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261503 |
| Start |
20205482:20205482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377027470
|
| CDS Mutation |
c.1433G>T |
| AA Mutation |
p.Arg478Leu(p.R478L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |