| ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000442544 |
| Start |
53205229:53205229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1587G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000442544 |
| Start |
53207752:53207752(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1796T>A |
| AA Mutation |
p.Leu599Ter(p.L599*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000442544 |
| Start |
52752255:52752256(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.293_294insAA |
| AA Mutation |
p.Ile99ArgfsTer24(p.I99Rfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |