| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355622 |
| Start |
117713473:117713473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1345C>T |
| AA Mutation |
p.Leu449Phe(p.L449F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355622 |
| Start |
117714551:117714551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2423G>T |
| AA Mutation |
p.Trp808Leu(p.W808L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355622 |
| Start |
117713463:117713463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1335A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |