| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263688 |
| Start |
172578383:172578383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1426G>A |
| AA Mutation |
p.Asp476Asn(p.D476N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263688 |
| Start |
172602163:172602163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3118G>A |
| AA Mutation |
p.Asp1040Asn(p.D1040N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263688 |
| Start |
172585064:172585064(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1549delA |
| AA Mutation |
p.Thr517LeufsTer4(p.T517Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |