| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355994 |
| Start |
76990018:76990018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.619C>T |
| AA Mutation |
p.Pro207Ser(p.P207S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355994 |
| Start |
77017146:77017146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.262C>A |
| AA Mutation |
p.Arg88Ser(p.R88S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355994 |
| Start |
77105249:77105249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149191307
|
| CDS Mutation |
c.13G>A |
| AA Mutation |
p.Ala5Thr(p.A5T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |