| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382771 |
| Start |
63503638:63503638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1044G>C |
| AA Mutation |
p.Leu348Phe(p.L348F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382771 |
| Start |
63487002:63487002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772139907
|
| CDS Mutation |
c.225G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000382771 |
| Start |
63489465:63489465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.424+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |