| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360509 |
| Start |
53711421:53711421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.772T>G |
| AA Mutation |
p.Phe258Val(p.F258V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360509 |
| Start |
53711391:53711391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765198263
|
| CDS Mutation |
c.802A>G |
| AA Mutation |
p.Arg268Gly(p.R268G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360509 |
| Start |
53615960:53615960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2246G>C |
| AA Mutation |
p.Ser749Thr(p.S749T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |