| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111969891:111969891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3517A>T |
| AA Mutation |
p.Thr1173Ser(p.T1173S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111885350:111885350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1273C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111913580:111913580(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1599delT |
| AA Mutation |
p.Phe533LeufsTer36(p.F533Lfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |