| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229758 |
| Start |
152972402:152972402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.962T>G |
| AA Mutation |
p.Phe321Cys(p.F321C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229758 |
| Start |
152972347:152972347(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1017delA |
| AA Mutation |
p.Asp340MetfsTer30(p.D340Mfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000229758 |
| Start |
152974906:152974906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.818+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |