| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261978 |
| Start |
74505029:74505029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs535962199
|
| CDS Mutation |
c.4323C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261978 |
| Start |
74585963:74585963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721G>T |
| AA Mutation |
p.Glu241Ter(p.E241*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261978 |
| Start |
74508953:74508953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3404-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |