| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367145 |
| Start |
205663318:205663318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571524594
|
| CDS Mutation |
c.473G>A |
| AA Mutation |
p.Arg158His(p.R158H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367145 |
| Start |
205663556:205663556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753484902
|
| CDS Mutation |
c.235C>T |
| AA Mutation |
p.Arg79Cys(p.R79C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367145 |
| Start |
205659512:205659512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774087128
|
| CDS Mutation |
c.1384G>A |
| AA Mutation |
p.Gly462Arg(p.G462R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |