| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304636 |
| Start |
189008134:189008134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3517G>T |
| AA Mutation |
p.Gly1173Ter(p.G1173*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304636 |
| Start |
188995061:188995061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1471C>T |
| AA Mutation |
p.Arg491Ter(p.R491*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000304636 |
| Start |
188991668:188991668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.898-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |