| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64190711:64190711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2576A>T |
| AA Mutation |
p.Tyr859Phe(p.Y859F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192314:64192314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.973T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64193386:64193386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-98-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |