| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000618562 |
| Start |
176687244:176687244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1088C>A |
| AA Mutation |
p.Thr363Lys(p.T363K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000618562 |
| Start |
176729592:176729592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.302C>G |
| AA Mutation |
p.Ser101Ter(p.S101*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000618562 |
| Start |
176711622:176711623(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.579_580dupTC |
| AA Mutation |
p.Gln194LeufsTer7(p.Q194Lfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |