| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263409 |
| Start |
38496494:38496494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1773G>T |
| AA Mutation |
p.Gln591His(p.Q591H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263409 |
| Start |
38530592:38530592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.56G>A |
| AA Mutation |
p.Arg19Lys(p.R19K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263409 |
| Start |
38493706:38493706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767618083
|
| CDS Mutation |
c.1965C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |