| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379263 |
| Start |
103322624:103322624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.820T>C |
| AA Mutation |
p.Tyr274His(p.Y274H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379263 |
| Start |
103341942:103341942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.77G>A |
| AA Mutation |
p.Cys26Tyr(p.C26Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000379263 |
| Start |
103341956:103341956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |