| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986334C>T | CA151961 | ATP13A2 | c.3430G>A (p.Ala1144Thr) c.3128G>A (p.Arg1043His) c.3415G>A (p.Ala1139Thr) n.1476G>A c.848G>A (p.Arg283His) c.3260G>A (p.Arg1087His) c.3257G>A (p.Arg1086His) c.3245G>A (p.Arg1082His) c.3233G>A (p.Arg1078His) c.3200G>A (p.Arg1067His) c.3143G>A (p.Arg1048His) c.3242G>A (p.Arg1081His) c.3218G>A (p.Arg1073His) c.3053G>A (p.Arg1018His) c.3412G>A (p.Ala1138Thr) c.3388G>A (p.Ala1130Thr) c.3385G>A (p.Ala1129Thr) c.3313G>A (p.Ala1105Thr) c.3298G>A (p.Ala1100Thr) c.3223G>A (p.Ala1075Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986334C>G | CA338232504 | ATP13A2 | c.3430G>C (p.Ala1144Pro) c.3128G>C (p.Arg1043Pro) c.3415G>C (p.Ala1139Pro) n.1476G>C c.848G>C (p.Arg283Pro) c.3260G>C (p.Arg1087Pro) c.3257G>C (p.Arg1086Pro) c.3245G>C (p.Arg1082Pro) c.3233G>C (p.Arg1078Pro) c.3200G>C (p.Arg1067Pro) c.3143G>C (p.Arg1048Pro) c.3242G>C (p.Arg1081Pro) c.3218G>C (p.Arg1073Pro) c.3053G>C (p.Arg1018Pro) c.3412G>C (p.Ala1138Pro) c.3388G>C (p.Ala1130Pro) c.3385G>C (p.Ala1129Pro) c.3313G>C (p.Ala1105Pro) c.3298G>C (p.Ala1100Pro) c.3223G>C (p.Ala1075Pro) | dbSNP |
| 1 | g.16986334C= | CA1142410591 | ATP13A2 | c.3430G= (p.Ala1144=) c.3128G= (p.Arg1043=) c.3415G= (p.Ala1139=) n.1476G= c.848G= (p.Arg283=) c.3260G= (p.Arg1087=) c.3257G= (p.Arg1086=) c.3245G= (p.Arg1082=) c.3233G= (p.Arg1078=) c.3200G= (p.Arg1067=) c.3143G= (p.Arg1048=) c.3242G= (p.Arg1081=) c.3218G= (p.Arg1073=) c.3053G= (p.Arg1018=) c.3412G= (p.Ala1138=) c.3388G= (p.Ala1130=) c.3385G= (p.Ala1129=) c.3313G= (p.Ala1105=) c.3298G= (p.Ala1100=) c.3223G= (p.Ala1075=) | dbSNP |