| ID |
12 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000257430 |
| Start |
112842309:112842310(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6715_6716insTTTGAGACGGAGTCTTGCACTGTCGCCAGGCTG |
| AA Mutation |
p.Ser2239delinsIleTerAspGlyValLeuHisCysArgGlnAlaGly(p.S2239delinsI*DGVLHCRQAG) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257430 |
| Start |
112838589:112838589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2995C>T |
| AA Mutation |
p.Gln999Ter(p.Q999*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257430 |
| Start |
112775683:112775683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.477C>G |
| AA Mutation |
p.Tyr159Ter(p.Y159*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257430 |
| Start |
112840254:112840255(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4666dupA |
| AA Mutation |
p.Thr1556AsnfsTer3(p.T1556Nfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000257430 |
| Start |
112775627:112775627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.423-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |