| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299767 |
| Start |
103932838:103932838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.307G>T |
| AA Mutation |
p.Glu103Ter(p.E103*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103943308:103943309(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1879_1880insAAAA |
| AA Mutation |
p.Leu627GlnfsTer3(p.L627Qfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103934289:103934289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |