| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344034 |
| Start |
27381681:27381681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1559G>A |
| AA Mutation |
p.Arg520Gln(p.R520Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344034 |
| Start |
27383588:27383588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.979A>C |
| AA Mutation |
p.Ser327Arg(p.S327R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344034 |
| Start |
27384859:27384859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373757292
|
| CDS Mutation |
c.639C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |