| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304449 |
| Start |
119590289:119590289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1136G>A |
| AA Mutation |
p.Arg379Gln(p.R379Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304449 |
| Start |
119590062:119590062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs192991563
|
| CDS Mutation |
c.1363C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304449 |
| Start |
119591295:119591295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.130A>T |
| AA Mutation |
p.Lys44Ter(p.K44*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |