| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329608 |
| Start |
109917320:109917320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Ala85Thr(p.A85T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329608 |
| Start |
109923809:109923809(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1193delC |
| AA Mutation |
p.Pro398ArgfsTer79(p.P398Rfs*79) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329608 |
| Start |
109923769:109923769(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1153delC |
| AA Mutation |
p.Gln385ArgfsTer92(p.Q385Rfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |