| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255688 |
| Start |
63544759:63544759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.257C>T |
| AA Mutation |
p.Pro86Leu(p.P86L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000255688 |
| Start |
63546157:63546157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.396G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000255688 |
| Start |
63546237:63546237(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs745860467
|
| CDS Mutation |
c.483delA |
| AA Mutation |
p.Ala162ArgfsTer56(p.A162Rfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |