| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140674776T>G | CA277969 | HARS1 | c.1019A>C (p.Tyr340Ser) c.1361A>C (p.Tyr454Ser) n.4106A>C c.347A>C (p.Tyr116Ser) c.*1300A>C (n.*1300A>C) c.*1416A>C (n.*1416A>C) c.*1294A>C (n.*1294A>C) c.1412A>C c.*651A>C (n.*651A>C) n.2458A>C n.1146A>C c.1244A>C (p.Tyr415Ser) c.1154A>C (p.Tyr385Ser) n.3268A>C c.*454A>C (n.*454A>C) c.1031A>C (p.Tyr344Ser) n.3179A>C n.2975A>C c.1253A>C (p.Tyr418Ser) c.1181A>C (p.Tyr394Ser) c.1139A>C (p.Tyr380Ser) c.1241A>C (p.Tyr414Ser) c.1301A>C (p.Tyr434Ser) n.367A>C c.1274A>C (p.Tyr425Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140674776T= | CA1586861407 | HARS1 | c.1019A= (p.Tyr340=) c.1361A= (p.Tyr454=) n.4106A= c.347A= (p.Tyr116=) c.*1300A= (n.*1300A=) c.*1416A= (n.*1416A=) c.*1294A= (n.*1294A=) c.1412A= c.*651A= (n.*651A=) n.2458A= n.1146A= c.1244A= (p.Tyr415=) c.1154A= (p.Tyr385=) n.3268A= c.*454A= (n.*454A=) c.1031A= (p.Tyr344=) n.3179A= n.2975A= c.1253A= (p.Tyr418=) c.1181A= (p.Tyr394=) c.1139A= (p.Tyr380=) c.1241A= (p.Tyr414=) c.1301A= (p.Tyr434=) n.367A= c.1274A= (p.Tyr425=) | dbSNP |