| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27212890:27212890(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2874delA |
| AA Mutation |
p.Lys958AsnfsTer14(p.K958Nfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380036 |
| Start |
27169603:27169603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.602C>A |
| AA Mutation |
p.Ser201Ter(p.S201*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380036 |
| Start |
27180307:27180307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.969T>A |
| AA Mutation |
p.Cys323Ter(p.C323*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |