| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27437194:27437194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748911697
|
| CDS Mutation |
c.1414A>G |
| AA Mutation |
p.Met472Val(p.M472V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346049 |
| Start |
27458421:27458421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2942A>G |
| AA Mutation |
p.His981Arg(p.H981R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346049 |
| Start |
27397753:27397753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.169A>T |
| AA Mutation |
p.Lys57Ter(p.K57*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |