| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263754 |
| Start |
20140332:20140332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1972G>T |
| AA Mutation |
p.Glu658Ter(p.E658*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263754 |
| Start |
20152434:20152435(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2414dupC |
| AA Mutation |
p.Glu806Ter(p.E806*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000263754 |
| Start |
20072461:20072461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.430+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |