| ID |
7 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000262506 |
| Start |
58168611:58168611(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512delA |
| AA Mutation |
p.Lys171SerfsTer4(p.K171Sfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262506 |
| Start |
58167718:58167718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.591C>A |
| AA Mutation |
p.Tyr197Ter(p.Y197*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262506 |
| Start |
58196752:58196753(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.195_196dupAG |
| AA Mutation |
p.Val66GlufsTer4(p.V66Efs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |