| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445355 |
| Start |
133268848:133268848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1963C>T |
| AA Mutation |
p.Pro655Ser(p.P655S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445355 |
| Start |
133270788:133270788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1582G>A |
| AA Mutation |
p.Glu528Lys(p.E528K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000445355 |
| Start |
133271540:133271540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1272C>A |
| AA Mutation |
p.Cys424Ter(p.C424*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |