Gene >> SQLE
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265896 |
| Start |
125020810:125020810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1471T>A |
| AA Mutation |
p.Cys491Ser(p.C491S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265896 |
| Start |
125018101:125018101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1247T>G |
| AA Mutation |
p.Leu416Arg(p.L416R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |