| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326624 |
| Start |
120254002:120254002(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592delT |
| AA Mutation |
p.Cys198AlafsTer43(p.C198Afs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326624 |
| Start |
120254520:120254520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1105G>T |
| AA Mutation |
p.Gly369Ter(p.G369*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326624 |
| Start |
120255369:120255370(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1959dupT |
| AA Mutation |
p.Lys654Ter(p.K654*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |