| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376874 |
| Start |
123499422:123499422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.575A>C |
| AA Mutation |
p.Glu192Ala(p.E192A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376874 |
| Start |
123485685:123485685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779371624
|
| CDS Mutation |
c.922G>A |
| AA Mutation |
p.Glu308Lys(p.E308K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376874 |
| Start |
123472654:123472654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1096C>T |
| AA Mutation |
p.Arg366Cys(p.R366C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |