| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221442980:221442980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1923A>C |
| AA Mutation |
p.Lys641Asn(p.K641N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221430000:221430000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765523420
|
| CDS Mutation |
c.2648G>A |
| AA Mutation |
p.Arg883His(p.R883H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281821 |
| Start |
221564159:221564159(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.395A>G |
| AA Mutation |
p.Asp132Gly(p.D132G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |