| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395095 |
| Start |
3522998:3522998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000395095 |
| Start |
3532456:3532456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1048C>T |
| AA Mutation |
p.Gln350Ter(p.Q350*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000395095 |
| Start |
3534793:3534793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1450-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |