| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262189 |
| Start |
152181271:152181271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6589C>T |
| AA Mutation |
p.Gln2197Ter(p.Q2197*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262189 |
| Start |
152220690:152220690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3545C>G |
| AA Mutation |
p.Ser1182Ter(p.S1182*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262189 |
| Start |
152148252:152148253(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13674dupT |
| AA Mutation |
p.Gly4559TrpfsTer15(p.G4559Wfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |