| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000275521 |
| Start |
45916604:45916616(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.682_694delAATGTGCTGAGTC |
| AA Mutation |
p.Asn228ProfsTer67(p.N228Pfs*67) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000275521 |
| Start |
45917424:45917424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.419C>A |
| AA Mutation |
p.Ser140Ter(p.S140*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |