| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301043 |
| Start |
28715840:28715840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.274G>T |
| AA Mutation |
p.Glu92Ter(p.E92*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301043 |
| Start |
28714886:28714886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.619G>T |
| AA Mutation |
p.Glu207Ter(p.E207*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000301043 |
| Start |
28714901:28714901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |