| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369535 |
| Start |
114713842:114713842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.248C>G |
| AA Mutation |
p.Ala83Gly(p.A83G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369535 |
| Start |
114713909:114713909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913254
|
| CDS Mutation |
c.181C>A |
| AA Mutation |
p.Gln61Lys(p.Q61K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369535 |
| Start |
114713979:114713979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.112-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |