| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263100 |
| Start |
58353176:58353176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.92T>A |
| AA Mutation |
p.Leu31Gln(p.L31Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263100 |
| Start |
58351414:58351414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542119157
|
| CDS Mutation |
c.887C>T |
| AA Mutation |
p.Pro296Leu(p.P296L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263100 |
| Start |
58352318:58352318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.578C>T |
| AA Mutation |
p.Ser193Phe(p.S193F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |