| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114681043:114681043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.493T>A |
| AA Mutation |
p.Phe165Ile(p.F165I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114671908:114671908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2165A>T |
| AA Mutation |
p.Gln722Leu(p.Q722L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114680962:114680962(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.574G>T |
| AA Mutation |
p.Ala192Ser(p.A192S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |