| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383836 |
| Start |
9060253:9060253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769568751
|
| CDS Mutation |
c.779A>G |
| AA Mutation |
p.His260Arg(p.H260R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383836 |
| Start |
8994386:8994386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757405998
|
| CDS Mutation |
c.2365G>A |
| AA Mutation |
p.Val789Met(p.V789M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383836 |
| Start |
8994479:8994479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774033599
|
| CDS Mutation |
c.2272C>T |
| AA Mutation |
p.Arg758Trp(p.R758W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |