| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257566 |
| Start |
114682862:114682862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.339G>A |
| AA Mutation |
p.Trp113Ter(p.W113*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114680908:114680909(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.627dupC |
| AA Mutation |
p.Thr210HisfsTer17(p.T210Hfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114679503:114679503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.864+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |