| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359062 |
| Start |
20639924:20639924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2218C>A |
| AA Mutation |
p.His740Asn(p.H740N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359062 |
| Start |
20613559:20613559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1128C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359062 |
| Start |
20653946:20653946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2926-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |