| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986346G>A | CA16043957 | ATP13A2 | c.3418C>T (p.Gln1140Ter) c.3116C>T (p.Pro1039Leu) c.3403C>T (p.Gln1135Ter) n.1464C>T c.836C>T (p.Pro279Leu) c.3248C>T (p.Pro1083Leu) c.3245C>T (p.Pro1082Leu) c.3233C>T (p.Pro1078Leu) c.3221C>T (p.Pro1074Leu) c.3188C>T (p.Pro1063Leu) c.3131C>T (p.Pro1044Leu) c.3230C>T (p.Pro1077Leu) c.3206C>T (p.Pro1069Leu) c.3041C>T (p.Pro1014Leu) c.3400C>T (p.Gln1134Ter) c.3376C>T (p.Gln1126Ter) c.3373C>T (p.Gln1125Ter) c.3301C>T (p.Gln1101Ter) c.3286C>T (p.Gln1096Ter) c.3211C>T (p.Gln1071Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16986346G= | CA1156049617 | ATP13A2 | c.3418C= (p.Gln1140=) c.3116C= (p.Pro1039=) c.3403C= (p.Gln1135=) n.1464C= c.836C= (p.Pro279=) c.3248C= (p.Pro1083=) c.3245C= (p.Pro1082=) c.3233C= (p.Pro1078=) c.3221C= (p.Pro1074=) c.3188C= (p.Pro1063=) c.3131C= (p.Pro1044=) c.3230C= (p.Pro1077=) c.3206C= (p.Pro1069=) c.3041C= (p.Pro1014=) c.3400C= (p.Gln1134=) c.3376C= (p.Gln1126=) c.3373C= (p.Gln1125=) c.3301C= (p.Gln1101=) c.3286C= (p.Gln1096=) c.3211C= (p.Gln1071=) | dbSNP |