| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265801 |
| Start |
20249885:20249885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1628A>G |
| AA Mutation |
p.Gln543Arg(p.Q543R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265801 |
| Start |
20253113:20253113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.818G>A |
| AA Mutation |
p.Arg273Lys(p.R273K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265801 |
| Start |
20252833:20252833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1098C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |