| ID |
2 |
| Mutation Consequence |
stop_gained;frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000252242 |
| Start |
52515240:52515241(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1475-1_1475insGAATGCAGACTCAGTGGAGAAGGAGTTGGACCAGTCAACATCT |
| AA Mutation |
p.Ser492Ter(p.S492*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252242 |
| Start |
52517755:52517756(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.928-2_928-1insTGAGATTAACTTCATGAAGATGTTCTTTGATGC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_insertion;splice_region_variant |
| Transcription ID |
ENST00000252242 |
| Start |
52517754:52517755(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.928-1_928insATGTTCTTTGATGCG |
| AA Mutation |
p.Met305_Ala309dup(p.M305_A309dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |