| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000559488 |
| Start |
47310189:47310189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2352G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000559488 |
| Start |
47290221:47290225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1074_1078delTCTGT |
| AA Mutation |
p.Leu359HisfsTer12(p.L359Hfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000559488 |
| Start |
47289773:47289773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1032T>A |
| AA Mutation |
p.Tyr344Ter(p.Y344*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |