| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21012298:21012298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4570T>C |
| AA Mutation |
p.Ser1524Pro(p.S1524P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21023650:21023650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2479C>A |
| AA Mutation |
p.Leu827Ile(p.L827I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21002661:21002661(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12761delC |
| AA Mutation |
p.Pro4254LeufsTer4(p.P4254Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |