| ID |
6 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000286063 |
| Start |
177898116:177898117(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1243_1244insTCCACACTGTGCTGGATTTTAACAGGTGTGAGCCCT |
| AA Mutation |
p.Gln415delinsLeuHisThrValLeuAspPheAsnArgCysGluProTer(p.Q415delinsLHTVLDFNRCEP*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000286063 |
| Start |
178071672:178071672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.766A>T |
| AA Mutation |
p.Lys256Ter(p.K256*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000286063 |
| Start |
177898115:177898116(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1244_1245insCT |
| AA Mutation |
p.Gln415HisfsTer2(p.Q415Hfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000286063 |
| Start |
177905189:177905189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1072-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |