| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308110 |
| Start |
65863649:65863649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.889A>G |
| AA Mutation |
p.Thr297Ala(p.T297A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308110 |
| Start |
65865884:65865884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1579C>T |
| AA Mutation |
p.Arg527Cys(p.R527C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000308110 |
| Start |
65865015:65865015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1273-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |