| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000155840 |
| Start |
2583540:2583540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199472762
|
| CDS Mutation |
c.1027C>T |
| AA Mutation |
p.Pro343Ser(p.P343S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000155840 |
| Start |
2528012:2528012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.471C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000155840 |
| Start |
2588719:2588719(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776103376
|
| CDS Mutation |
c.1265delA |
| AA Mutation |
p.Lys422SerfsTer10(p.K422Sfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |