| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373832 |
| Start |
28537993:28537993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1252A>G |
| AA Mutation |
p.Lys418Glu(p.K418E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373832 |
| Start |
28536806:28536806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547058163
|
| CDS Mutation |
c.997G>A |
| AA Mutation |
p.Glu333Lys(p.E333K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000373832 |
| Start |
28536747:28536747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.938G>A |
| AA Mutation |
p.Gly313Glu(p.G313E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |