| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262713 |
| Start |
22974078:22974078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768367910
|
| CDS Mutation |
c.1460G>A |
| AA Mutation |
p.Arg487Gln(p.R487Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262713 |
| Start |
22982095:22982095(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.172delG |
| AA Mutation |
p.Asp58MetfsTer184(p.D58Mfs*184) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262713 |
| Start |
22981946:22981946(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.321delC |
| AA Mutation |
p.Asp108IlefsTer134(p.D108Ifs*134) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |