| ID |
3 |
| Mutation Consequence |
coding_sequence_variant;3_prime_UTR_variant |
| Transcription ID |
ENST00000309180 |
| Start |
151198283:151198447(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.940_*144delAGATGTGAAAATAATGCATAAAAGACAGGATTTTTTGTGCTACCAATTCTGGCCTTACTGGACCATAAAGTTAATTATAGCTTTGAAAGATAAAAAAAAAAAAAACAAAAAAAAACTCAGTATGAAAAAATACAGTTAGCTAGCAAATATGGACAGGTTTACTTA |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309180 |
| Start |
151198616:151198616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566034239
|
| CDS Mutation |
c.771C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309180 |
| Start |
151199323:151199323(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.64delT |
| AA Mutation |
p.Tyr22IlefsTer2(p.Y22Ifs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |