| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309881 |
| Start |
80672825:80672825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778081291
|
| CDS Mutation |
c.1181A>G |
| AA Mutation |
p.Lys394Arg(p.K394R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309881 |
| Start |
80666460:80666460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.719A>G |
| AA Mutation |
p.Glu240Gly(p.E240G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000309881 |
| Start |
80656542:80656542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.123A>C |
| AA Mutation |
p.Gln41His(p.Q41H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |