| ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231021 |
| Start |
26988261:26988261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.73C>T |
| AA Mutation |
p.Gln25Ter(p.Q25*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231021 |
| Start |
26902549:26902549(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1180G>T |
| AA Mutation |
p.Glu394Ter(p.E394*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231021 |
| Start |
26881411:26881412(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2094dupT |
| AA Mutation |
p.Gln699SerfsTer13(p.Q699Sfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |