| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323076 |
| Start |
46143369:46143369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1289A>G |
| AA Mutation |
p.Tyr430Cys(p.Y430C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000323076 |
| Start |
46130915:46130915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1650G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000323076 |
| Start |
46144440:46144440(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1253+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |