| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397066 |
| Start |
2433036:2433036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.247C>A |
| AA Mutation |
p.Pro83Thr(p.P83T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397066 |
| Start |
2449458:2449458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1395G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000397066 |
| Start |
2449280:2449280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1219-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |