| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290858 |
| Start |
67029427:67029427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.20A>C |
| AA Mutation |
p.Asp7Ala(p.D7A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290858 |
| Start |
67082265:67082265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.452G>A |
| AA Mutation |
p.Arg151His(p.R151H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000290858 |
| Start |
67029725:67029725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.79-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |