Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16997028_16997050del | CA2643674552 | ATP13A2 | c.1171_1193del (p.Val391ArgfsTer25) c.1156_1178del (p.Val386ArgfsTer25) n.779_801del n.310_332del c.331_353del (p.Val111ArgfsTer19) c.310_332del (p.Val104SerfsTer21) c.1168_1190del (p.Val390ArgfsTer25) c.1144_1166del (p.Val382ArgfsTer25) c.1153_1175del (p.Val385ArgfsTer25) c.1129_1151del (p.Val377ArgfsTer25) c.1141_1163del (p.Val381ArgfsTer25) | gnomAD v4 |
1 | g.16997028G>A | CA338254958 | ATP13A2 | c.1187C>T (p.Thr396Ile) c.1172C>T (p.Thr391Ile) n.795C>T n.326C>T c.347C>T (p.Thr116Ile) c.326C>T (p.Thr109Ile) c.1184C>T (p.Thr395Ile) c.1160C>T (p.Thr387Ile) c.1169C>T (p.Thr390Ile) c.1145C>T (p.Thr382Ile) c.1157C>T (p.Thr386Ile) | |
1 | g.16997028G>C | CA338254957 | ATP13A2 | c.1187C>G (p.Thr396Ser) c.1172C>G (p.Thr391Ser) n.795C>G n.326C>G c.347C>G (p.Thr116Ser) c.326C>G (p.Thr109Ser) c.1184C>G (p.Thr395Ser) c.1160C>G (p.Thr387Ser) c.1169C>G (p.Thr390Ser) c.1145C>G (p.Thr382Ser) c.1157C>G (p.Thr386Ser) | |
1 | g.16997028G>T | CA338254959 | ATP13A2 | c.1187C>A (p.Thr396Asn) c.1172C>A (p.Thr391Asn) n.795C>A n.326C>A c.347C>A (p.Thr116Asn) c.326C>A (p.Thr109Asn) c.1184C>A (p.Thr395Asn) c.1160C>A (p.Thr387Asn) c.1169C>A (p.Thr390Asn) c.1145C>A (p.Thr382Asn) c.1157C>A (p.Thr386Asn) | |
1 | g.16997029T>A | CA338254960 | ATP13A2 | c.1186A>T (p.Thr396Ser) c.1171A>T (p.Thr391Ser) n.794A>T n.325A>T c.346A>T (p.Thr116Ser) c.325A>T (p.Thr109Ser) c.1183A>T (p.Thr395Ser) c.1159A>T (p.Thr387Ser) c.1168A>T (p.Thr390Ser) c.1144A>T (p.Thr382Ser) c.1156A>T (p.Thr386Ser) | |
1 | g.16997029T>C | CA338254962 | ATP13A2 | c.1186A>G (p.Thr396Ala) c.1171A>G (p.Thr391Ala) n.794A>G n.325A>G c.346A>G (p.Thr116Ala) c.325A>G (p.Thr109Ala) c.1183A>G (p.Thr395Ala) c.1159A>G (p.Thr387Ala) c.1168A>G (p.Thr390Ala) c.1144A>G (p.Thr382Ala) c.1156A>G (p.Thr386Ala) | |
1 | g.16997029T>G | CA338254961 | ATP13A2 | c.1186A>C (p.Thr396Pro) c.1171A>C (p.Thr391Pro) n.794A>C n.325A>C c.346A>C (p.Thr116Pro) c.325A>C (p.Thr109Pro) c.1183A>C (p.Thr395Pro) c.1159A>C (p.Thr387Pro) c.1168A>C (p.Thr390Pro) c.1144A>C (p.Thr382Pro) c.1156A>C (p.Thr386Pro) | |
1 | g.16997030C>A | CA416062783 | ATP13A2 | c.1185G>T (p.Val395=) c.1170G>T (p.Val390=) n.793G>T n.324G>T c.345G>T (p.Val115=) c.324G>T (p.Val108=) c.1182G>T (p.Val394=) c.1158G>T (p.Val386=) c.1167G>T (p.Val389=) c.1143G>T (p.Val381=) c.1155G>T (p.Val385=) | |
1 | g.16997030C>G | CA416062786 | ATP13A2 | c.1185G>C (p.Val395=) c.1170G>C (p.Val390=) n.793G>C n.324G>C c.345G>C (p.Val115=) c.324G>C (p.Val108=) c.1182G>C (p.Val394=) c.1158G>C (p.Val386=) c.1167G>C (p.Val389=) c.1143G>C (p.Val381=) c.1155G>C (p.Val385=) | |
1 | g.16997030C>T | CA416062789 | ATP13A2 | c.1185G>A (p.Val395=) c.1170G>A (p.Val390=) n.793G>A n.324G>A c.345G>A (p.Val115=) c.324G>A (p.Val108=) c.1182G>A (p.Val394=) c.1158G>A (p.Val386=) c.1167G>A (p.Val389=) c.1143G>A (p.Val381=) c.1155G>A (p.Val385=) | |
1 | g.16997031A>C | CA338254963 | ATP13A2 | c.1184T>G (p.Val395Gly) c.1169T>G (p.Val390Gly) n.792T>G n.323T>G c.344T>G (p.Val115Gly) c.323T>G (p.Val108Gly) c.1181T>G (p.Val394Gly) c.1157T>G (p.Val386Gly) c.1166T>G (p.Val389Gly) c.1142T>G (p.Val381Gly) c.1154T>G (p.Val385Gly) | |
1 | g.16997031A>G | CA338254964 | ATP13A2 | c.1184T>C (p.Val395Ala) c.1169T>C (p.Val390Ala) n.792T>C n.323T>C c.344T>C (p.Val115Ala) c.323T>C (p.Val108Ala) c.1181T>C (p.Val394Ala) c.1157T>C (p.Val386Ala) c.1166T>C (p.Val389Ala) c.1142T>C (p.Val381Ala) c.1154T>C (p.Val385Ala) | |
1 | g.16997031A>T | CA338254965 | ATP13A2 | c.1184T>A (p.Val395Glu) c.1169T>A (p.Val390Glu) n.792T>A n.323T>A c.344T>A (p.Val115Glu) c.323T>A (p.Val108Glu) c.1181T>A (p.Val394Glu) c.1157T>A (p.Val386Glu) c.1166T>A (p.Val389Glu) c.1142T>A (p.Val381Glu) c.1154T>A (p.Val385Glu) | |
1 | g.16997032C>A | CA338254966 | ATP13A2 | c.1183G>T (p.Val395Leu) c.1168G>T (p.Val390Leu) n.791G>T n.322G>T c.343G>T (p.Val115Leu) c.322G>T (p.Val108Leu) c.1180G>T (p.Val394Leu) c.1156G>T (p.Val386Leu) c.1165G>T (p.Val389Leu) c.1141G>T (p.Val381Leu) c.1153G>T (p.Val385Leu) | |
1 | g.16997032C>G | CA338254967 | ATP13A2 | c.1183G>C (p.Val395Leu) c.1168G>C (p.Val390Leu) n.791G>C n.322G>C c.343G>C (p.Val115Leu) c.322G>C (p.Val108Leu) c.1180G>C (p.Val394Leu) c.1156G>C (p.Val386Leu) c.1165G>C (p.Val389Leu) c.1141G>C (p.Val381Leu) c.1153G>C (p.Val385Leu) | |
1 | g.16997032C>T | CA338254968 | ATP13A2 | c.1183G>A (p.Val395Met) c.1168G>A (p.Val390Met) n.791G>A n.322G>A c.343G>A (p.Val115Met) c.322G>A (p.Val108Met) c.1180G>A (p.Val394Met) c.1156G>A (p.Val386Met) c.1165G>A (p.Val389Met) c.1141G>A (p.Val381Met) c.1153G>A (p.Val385Met) | |
1 | g.16997033C>A | CA637342 | ATP13A2 | c.1182G>T (p.Val394=) c.1167G>T (p.Val389=) n.790G>T n.321G>T c.342G>T (p.Val114=) c.321G>T (p.Val107=) c.1179G>T (p.Val393=) c.1155G>T (p.Val385=) c.1164G>T (p.Val388=) c.1140G>T (p.Val380=) c.1152G>T (p.Val384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997033C= | CA1143843055 | ATP13A2 | c.1182G= (p.Val394=) c.1167G= (p.Val389=) n.790G= n.321G= c.342G= (p.Val114=) c.321G= (p.Val107=) c.1179G= (p.Val393=) c.1155G= (p.Val385=) c.1164G= (p.Val388=) c.1140G= (p.Val380=) c.1152G= (p.Val384=) | |
1 | g.16997033C>G | CA416062796 | ATP13A2 | c.1182G>C (p.Val394=) c.1167G>C (p.Val389=) n.790G>C n.321G>C c.342G>C (p.Val114=) c.321G>C (p.Val107=) c.1179G>C (p.Val393=) c.1155G>C (p.Val385=) c.1164G>C (p.Val388=) c.1140G>C (p.Val380=) c.1152G>C (p.Val384=) | |
1 | g.16997033C>T | CA416062799 | ATP13A2 | c.1182G>A (p.Val394=) c.1167G>A (p.Val389=) n.790G>A n.321G>A c.342G>A (p.Val114=) c.321G>A (p.Val107=) c.1179G>A (p.Val393=) c.1155G>A (p.Val385=) c.1164G>A (p.Val388=) c.1140G>A (p.Val380=) c.1152G>A (p.Val384=) | |
1 | g.16997034A= | CA1149128337 | ATP13A2 | c.1181T= (p.Val394=) c.1166T= (p.Val389=) n.789T= n.320T= c.341T= (p.Val114=) c.320T= (p.Val107=) c.1178T= (p.Val393=) c.1154T= (p.Val385=) c.1163T= (p.Val388=) c.1139T= (p.Val380=) c.1151T= (p.Val384=) | |
1 | g.16997034A>C | CA338254969 | ATP13A2 | c.1181T>G (p.Val394Gly) c.1166T>G (p.Val389Gly) n.789T>G n.320T>G c.341T>G (p.Val114Gly) c.320T>G (p.Val107Gly) c.1178T>G (p.Val393Gly) c.1154T>G (p.Val385Gly) c.1163T>G (p.Val388Gly) c.1139T>G (p.Val380Gly) c.1151T>G (p.Val384Gly) | |
1 | g.16997034A>G | CA637343 | ATP13A2 | c.1181T>C (p.Val394Ala) c.1166T>C (p.Val389Ala) n.789T>C n.320T>C c.341T>C (p.Val114Ala) c.320T>C (p.Val107Ala) c.1178T>C (p.Val393Ala) c.1154T>C (p.Val385Ala) c.1163T>C (p.Val388Ala) c.1139T>C (p.Val380Ala) c.1151T>C (p.Val384Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997034A>T | CA338254970 | ATP13A2 | c.1181T>A (p.Val394Glu) c.1166T>A (p.Val389Glu) n.789T>A n.320T>A c.341T>A (p.Val114Glu) c.320T>A (p.Val107Glu) c.1178T>A (p.Val393Glu) c.1154T>A (p.Val385Glu) c.1163T>A (p.Val388Glu) c.1139T>A (p.Val380Glu) c.1151T>A (p.Val384Glu) | |
1 | g.16997035C>A | CA338254973 | ATP13A2 | c.1180G>T (p.Val394Leu) c.1165G>T (p.Val389Leu) n.788G>T n.319G>T c.340G>T (p.Val114Leu) c.319G>T (p.Val107Leu) c.1177G>T (p.Val393Leu) c.1153G>T (p.Val385Leu) c.1162G>T (p.Val388Leu) c.1138G>T (p.Val380Leu) c.1150G>T (p.Val384Leu) | |
1 | g.16997035C>G | CA338254972 | ATP13A2 | c.1180G>C (p.Val394Leu) c.1165G>C (p.Val389Leu) n.788G>C n.319G>C c.340G>C (p.Val114Leu) c.319G>C (p.Val107Leu) c.1177G>C (p.Val393Leu) c.1153G>C (p.Val385Leu) c.1162G>C (p.Val388Leu) c.1138G>C (p.Val380Leu) c.1150G>C (p.Val384Leu) | |
1 | g.16997035C>T | CA338254971 | ATP13A2 | c.1180G>A (p.Val394Met) c.1165G>A (p.Val389Met) n.788G>A n.319G>A c.340G>A (p.Val114Met) c.319G>A (p.Val107Met) c.1177G>A (p.Val393Met) c.1153G>A (p.Val385Met) c.1162G>A (p.Val388Met) c.1138G>A (p.Val380Met) c.1150G>A (p.Val384Met) | |
1 | g.16997036T>A | CA416062813 | ATP13A2 | c.1179A>T (p.Ala393=) c.1164A>T (p.Ala388=) n.787A>T n.318A>T c.339A>T (p.Ala113=) c.318A>T (p.Ala106=) c.1176A>T (p.Ala392=) c.1152A>T (p.Ala384=) c.1161A>T (p.Ala387=) c.1137A>T (p.Ala379=) c.1149A>T (p.Ala383=) | |
1 | g.16997036T>C | CA416062817 | ATP13A2 | c.1179A>G (p.Ala393=) c.1164A>G (p.Ala388=) n.787A>G n.318A>G c.339A>G (p.Ala113=) c.318A>G (p.Ala106=) c.1176A>G (p.Ala392=) c.1152A>G (p.Ala384=) c.1161A>G (p.Ala387=) c.1137A>G (p.Ala379=) c.1149A>G (p.Ala383=) | gnomAD v4 |
1 | g.16997036T>G | CA416062814 | ATP13A2 | c.1179A>C (p.Ala393=) c.1164A>C (p.Ala388=) n.787A>C n.318A>C c.339A>C (p.Ala113=) c.318A>C (p.Ala106=) c.1176A>C (p.Ala392=) c.1152A>C (p.Ala384=) c.1161A>C (p.Ala387=) c.1137A>C (p.Ala379=) c.1149A>C (p.Ala383=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997036T= | CA1156032593 | ATP13A2 | c.1179A= (p.Ala393=) c.1164A= (p.Ala388=) n.787A= n.318A= c.339A= (p.Ala113=) c.318A= (p.Ala106=) c.1176A= (p.Ala392=) c.1152A= (p.Ala384=) c.1161A= (p.Ala387=) c.1137A= (p.Ala379=) c.1149A= (p.Ala383=) | |
1 | g.16997037G>A | CA637344 | ATP13A2 | c.1178C>T (p.Ala393Val) c.1163C>T (p.Ala388Val) n.786C>T n.317C>T c.338C>T (p.Ala113Val) c.317C>T (p.Ala106Val) c.1175C>T (p.Ala392Val) c.1151C>T (p.Ala384Val) c.1160C>T (p.Ala387Val) c.1136C>T (p.Ala379Val) c.1148C>T (p.Ala383Val) | dbSNP ExAC |
1 | g.16997037G>C | CA338254974 | ATP13A2 | c.1178C>G (p.Ala393Gly) c.1163C>G (p.Ala388Gly) n.786C>G n.317C>G c.338C>G (p.Ala113Gly) c.317C>G (p.Ala106Gly) c.1175C>G (p.Ala392Gly) c.1151C>G (p.Ala384Gly) c.1160C>G (p.Ala387Gly) c.1136C>G (p.Ala379Gly) c.1148C>G (p.Ala383Gly) | |
1 | g.16997037G= | CA1156032601 | ATP13A2 | c.1178C= (p.Ala393=) c.1163C= (p.Ala388=) n.786C= n.317C= c.338C= (p.Ala113=) c.317C= (p.Ala106=) c.1175C= (p.Ala392=) c.1151C= (p.Ala384=) c.1160C= (p.Ala387=) c.1136C= (p.Ala379=) c.1148C= (p.Ala383=) | |
1 | g.16997037G>T | CA338254975 | ATP13A2 | c.1178C>A (p.Ala393Glu) c.1163C>A (p.Ala388Glu) n.786C>A n.317C>A c.338C>A (p.Ala113Glu) c.317C>A (p.Ala106Glu) c.1175C>A (p.Ala392Glu) c.1151C>A (p.Ala384Glu) c.1160C>A (p.Ala387Glu) c.1136C>A (p.Ala379Glu) c.1148C>A (p.Ala383Glu) | |
1 | g.16997038C>A | CA338254976 | ATP13A2 | c.1177G>T (p.Ala393Ser) c.1162G>T (p.Ala388Ser) n.785G>T n.316G>T c.337G>T (p.Ala113Ser) c.316G>T (p.Ala106Ser) c.1174G>T (p.Ala392Ser) c.1150G>T (p.Ala384Ser) c.1159G>T (p.Ala387Ser) c.1135G>T (p.Ala379Ser) c.1147G>T (p.Ala383Ser) | dbSNP |
1 | g.16997038C= | CA1156032608 | ATP13A2 | c.1177G= (p.Ala393=) c.1162G= (p.Ala388=) n.785G= n.316G= c.337G= (p.Ala113=) c.316G= (p.Ala106=) c.1174G= (p.Ala392=) c.1150G= (p.Ala384=) c.1159G= (p.Ala387=) c.1135G= (p.Ala379=) c.1147G= (p.Ala383=) | |
1 | g.16997038C>G | CA338254977 | ATP13A2 | c.1177G>C (p.Ala393Pro) c.1162G>C (p.Ala388Pro) n.785G>C n.316G>C c.337G>C (p.Ala113Pro) c.316G>C (p.Ala106Pro) c.1174G>C (p.Ala392Pro) c.1150G>C (p.Ala384Pro) c.1159G>C (p.Ala387Pro) c.1135G>C (p.Ala379Pro) c.1147G>C (p.Ala383Pro) | |
1 | g.16997038C>T | CA338254978 | ATP13A2 | c.1177G>A (p.Ala393Thr) c.1162G>A (p.Ala388Thr) n.785G>A n.316G>A c.337G>A (p.Ala113Thr) c.316G>A (p.Ala106Thr) c.1174G>A (p.Ala392Thr) c.1150G>A (p.Ala384Thr) c.1159G>A (p.Ala387Thr) c.1135G>A (p.Ala379Thr) c.1147G>A (p.Ala383Thr) | |
1 | g.16997039C>A | CA416062822 | ATP13A2 | c.1176G>T (p.Leu392=) c.1161G>T (p.Leu387=) n.784G>T n.315G>T c.336G>T (p.Leu112=) c.315G>T (p.Leu105=) c.1173G>T (p.Leu391=) c.1149G>T (p.Leu383=) c.1158G>T (p.Leu386=) c.1134G>T (p.Leu378=) c.1146G>T (p.Leu382=) | |
1 | g.16997039C>G | CA416062825 | ATP13A2 | c.1176G>C (p.Leu392=) c.1161G>C (p.Leu387=) n.784G>C n.315G>C c.336G>C (p.Leu112=) c.315G>C (p.Leu105=) c.1173G>C (p.Leu391=) c.1149G>C (p.Leu383=) c.1158G>C (p.Leu386=) c.1134G>C (p.Leu378=) c.1146G>C (p.Leu382=) | |
1 | g.16997039C>T | CA416062827 | ATP13A2 | c.1176G>A (p.Leu392=) c.1161G>A (p.Leu387=) n.784G>A n.315G>A c.336G>A (p.Leu112=) c.315G>A (p.Leu105=) c.1173G>A (p.Leu391=) c.1149G>A (p.Leu383=) c.1158G>A (p.Leu386=) c.1134G>A (p.Leu378=) c.1146G>A (p.Leu382=) | |
1 | g.16997040A>C | CA338254979 | ATP13A2 | c.1175T>G (p.Leu392Arg) c.1160T>G (p.Leu387Arg) n.783T>G n.314T>G c.335T>G (p.Leu112Arg) c.314T>G (p.Leu105Arg) c.1172T>G (p.Leu391Arg) c.1148T>G (p.Leu383Arg) c.1157T>G (p.Leu386Arg) c.1133T>G (p.Leu378Arg) c.1145T>G (p.Leu382Arg) | |
1 | g.16997040A>G | CA338254980 | ATP13A2 | c.1175T>C (p.Leu392Pro) c.1160T>C (p.Leu387Pro) n.783T>C n.314T>C c.335T>C (p.Leu112Pro) c.314T>C (p.Leu105Pro) c.1172T>C (p.Leu391Pro) c.1148T>C (p.Leu383Pro) c.1157T>C (p.Leu386Pro) c.1133T>C (p.Leu378Pro) c.1145T>C (p.Leu382Pro) | |
1 | g.16997040A>T | CA338254981 | ATP13A2 | c.1175T>A (p.Leu392Gln) c.1160T>A (p.Leu387Gln) n.783T>A n.314T>A c.335T>A (p.Leu112Gln) c.314T>A (p.Leu105Gln) c.1172T>A (p.Leu391Gln) c.1148T>A (p.Leu383Gln) c.1157T>A (p.Leu386Gln) c.1133T>A (p.Leu378Gln) c.1145T>A (p.Leu382Gln) | |
1 | g.16997041G>A | CA416062839 | ATP13A2 | c.1174C>T (p.Leu392=) c.1159C>T (p.Leu387=) n.782C>T n.313C>T c.334C>T (p.Leu112=) c.313C>T (p.Leu105=) c.1171C>T (p.Leu391=) c.1147C>T (p.Leu383=) c.1156C>T (p.Leu386=) c.1132C>T (p.Leu378=) c.1144C>T (p.Leu382=) | |
1 | g.16997041G>C | CA338254982 | ATP13A2 | c.1174C>G (p.Leu392Val) c.1159C>G (p.Leu387Val) n.782C>G n.313C>G c.334C>G (p.Leu112Val) c.313C>G (p.Leu105Val) c.1171C>G (p.Leu391Val) c.1147C>G (p.Leu383Val) c.1156C>G (p.Leu386Val) c.1132C>G (p.Leu378Val) c.1144C>G (p.Leu382Val) | |
1 | g.16997041G>T | CA338254983 | ATP13A2 | c.1174C>A (p.Leu392Met) c.1159C>A (p.Leu387Met) n.782C>A n.313C>A c.334C>A (p.Leu112Met) c.313C>A (p.Leu105Met) c.1171C>A (p.Leu391Met) c.1147C>A (p.Leu383Met) c.1156C>A (p.Leu386Met) c.1132C>A (p.Leu378Met) c.1144C>A (p.Leu382Met) | |
1 | g.16997042G>A | CA416062842 | ATP13A2 | c.1173C>T (p.Val391=) c.1158C>T (p.Val386=) n.781C>T n.312C>T c.333C>T (p.Val111=) c.312C>T (p.Val104=) c.1170C>T (p.Val390=) c.1146C>T (p.Val382=) c.1155C>T (p.Val385=) c.1131C>T (p.Val377=) c.1143C>T (p.Val381=) | |
1 | g.16997042G>C | CA416062844 | ATP13A2 | c.1173C>G (p.Val391=) c.1158C>G (p.Val386=) n.781C>G n.312C>G c.333C>G (p.Val111=) c.312C>G (p.Val104=) c.1170C>G (p.Val390=) c.1146C>G (p.Val382=) c.1155C>G (p.Val385=) c.1131C>G (p.Val377=) c.1143C>G (p.Val381=) | |
1 | g.16997042G>T | CA416062845 | ATP13A2 | c.1173C>A (p.Val391=) c.1158C>A (p.Val386=) n.781C>A n.312C>A c.333C>A (p.Val111=) c.312C>A (p.Val104=) c.1170C>A (p.Val390=) c.1146C>A (p.Val382=) c.1155C>A (p.Val385=) c.1131C>A (p.Val377=) c.1143C>A (p.Val381=) | |
1 | g.16997043A>C | CA338254985 | ATP13A2 | c.1172T>G (p.Val391Gly) c.1157T>G (p.Val386Gly) n.780T>G n.311T>G c.332T>G (p.Val111Gly) c.311T>G (p.Val104Gly) c.1169T>G (p.Val390Gly) c.1145T>G (p.Val382Gly) c.1154T>G (p.Val385Gly) c.1130T>G (p.Val377Gly) c.1142T>G (p.Val381Gly) | |
1 | g.16997043A>G | CA338254986 | ATP13A2 | c.1172T>C (p.Val391Ala) c.1157T>C (p.Val386Ala) n.780T>C n.311T>C c.332T>C (p.Val111Ala) c.311T>C (p.Val104Ala) c.1169T>C (p.Val390Ala) c.1145T>C (p.Val382Ala) c.1154T>C (p.Val385Ala) c.1130T>C (p.Val377Ala) c.1142T>C (p.Val381Ala) | |
1 | g.16997043A>T | CA338254984 | ATP13A2 | c.1172T>A (p.Val391Asp) c.1157T>A (p.Val386Asp) n.780T>A n.311T>A c.332T>A (p.Val111Asp) c.311T>A (p.Val104Asp) c.1169T>A (p.Val390Asp) c.1145T>A (p.Val382Asp) c.1154T>A (p.Val385Asp) c.1130T>A (p.Val377Asp) c.1142T>A (p.Val381Asp) | |
1 | g.16997044C>A | CA338254987 | ATP13A2 | c.1171G>T (p.Val391Phe) c.1156G>T (p.Val386Phe) n.779G>T n.310G>T c.331G>T (p.Val111Phe) c.310G>T (p.Val104Phe) c.1168G>T (p.Val390Phe) c.1144G>T (p.Val382Phe) c.1153G>T (p.Val385Phe) c.1129G>T (p.Val377Phe) c.1141G>T (p.Val381Phe) | gnomAD v4 |
1 | g.16997044C= | CA1141314258 | ATP13A2 | c.1171G= (p.Val391=) c.1156G= (p.Val386=) n.779G= n.310G= c.331G= (p.Val111=) c.310G= (p.Val104=) c.1168G= (p.Val390=) c.1144G= (p.Val382=) c.1153G= (p.Val385=) c.1129G= (p.Val377=) c.1141G= (p.Val381=) | |
1 | g.16997044C>G | CA338254988 | ATP13A2 | c.1171G>C (p.Val391Leu) c.1156G>C (p.Val386Leu) n.779G>C n.310G>C c.331G>C (p.Val111Leu) c.310G>C (p.Val104Leu) c.1168G>C (p.Val390Leu) c.1144G>C (p.Val382Leu) c.1153G>C (p.Val385Leu) c.1129G>C (p.Val377Leu) c.1141G>C (p.Val381Leu) | |
1 | g.16997044C>T | CA637345 | ATP13A2 | c.1171G>A (p.Val391Ile) c.1156G>A (p.Val386Ile) n.779G>A n.310G>A c.331G>A (p.Val111Ile) c.310G>A (p.Val104Ile) c.1168G>A (p.Val390Ile) c.1144G>A (p.Val382Ile) c.1153G>A (p.Val385Ile) c.1129G>A (p.Val377Ile) c.1141G>A (p.Val381Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.16997045G>A | CA637346 | ATP13A2 | c.1170C>T (p.His390=) c.1155C>T (p.His385=) n.778C>T n.309C>T c.330C>T (p.His110=) c.309C>T (p.His103=) c.1167C>T (p.His389=) c.1143C>T (p.His381=) c.1152C>T (p.His384=) c.1128C>T (p.His376=) c.1140C>T (p.His380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16997045G>C | CA338254989 | ATP13A2 | c.1170C>G (p.His390Gln) c.1155C>G (p.His385Gln) n.778C>G n.309C>G c.330C>G (p.His110Gln) c.309C>G (p.His103Gln) c.1167C>G (p.His389Gln) c.1143C>G (p.His381Gln) c.1152C>G (p.His384Gln) c.1128C>G (p.His376Gln) c.1140C>G (p.His380Gln) | |
1 | g.16997045G= | CA1143496964 | ATP13A2 | c.1170C= (p.His390=) c.1155C= (p.His385=) n.778C= n.309C= c.330C= (p.His110=) c.309C= (p.His103=) c.1167C= (p.His389=) c.1143C= (p.His381=) c.1152C= (p.His384=) c.1128C= (p.His376=) c.1140C= (p.His380=) | |
1 | g.16997045G>T | CA338254990 | ATP13A2 | c.1170C>A (p.His390Gln) c.1155C>A (p.His385Gln) n.778C>A n.309C>A c.330C>A (p.His110Gln) c.309C>A (p.His103Gln) c.1167C>A (p.His389Gln) c.1143C>A (p.His381Gln) c.1152C>A (p.His384Gln) c.1128C>A (p.His376Gln) c.1140C>A (p.His380Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997046T>A | CA338254991 | ATP13A2 | c.1169A>T (p.His390Leu) c.1154A>T (p.His385Leu) n.777A>T n.308A>T c.329A>T (p.His110Leu) c.308A>T (p.His103Leu) c.1166A>T (p.His389Leu) c.1142A>T (p.His381Leu) c.1151A>T (p.His384Leu) c.1127A>T (p.His376Leu) c.1139A>T (p.His380Leu) | |
1 | g.16997046T>C | CA338254992 | ATP13A2 | c.1169A>G (p.His390Arg) c.1154A>G (p.His385Arg) n.777A>G n.308A>G c.329A>G (p.His110Arg) c.308A>G (p.His103Arg) c.1166A>G (p.His389Arg) c.1142A>G (p.His381Arg) c.1151A>G (p.His384Arg) c.1127A>G (p.His376Arg) c.1139A>G (p.His380Arg) | |
1 | g.16997046T>G | CA637347 | ATP13A2 | c.1169A>C (p.His390Pro) c.1154A>C (p.His385Pro) n.777A>C n.308A>C c.329A>C (p.His110Pro) c.308A>C (p.His103Pro) c.1166A>C (p.His389Pro) c.1142A>C (p.His381Pro) c.1151A>C (p.His384Pro) c.1127A>C (p.His376Pro) c.1139A>C (p.His380Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997046T= | CA1144096988 | ATP13A2 | c.1169A= (p.His390=) c.1154A= (p.His385=) n.777A= n.308A= c.329A= (p.His110=) c.308A= (p.His103=) c.1166A= (p.His389=) c.1142A= (p.His381=) c.1151A= (p.His384=) c.1127A= (p.His376=) c.1139A= (p.His380=) | |
1 | g.16997047G>A | CA338254993 | ATP13A2 | c.1168C>T (p.His390Tyr) c.1153C>T (p.His385Tyr) n.776C>T n.307C>T c.328C>T (p.His110Tyr) c.307C>T (p.His103Tyr) c.1165C>T (p.His389Tyr) c.1141C>T (p.His381Tyr) c.1150C>T (p.His384Tyr) c.1126C>T (p.His376Tyr) c.1138C>T (p.His380Tyr) | |
1 | g.16997047G>C | CA338254994 | ATP13A2 | c.1168C>G (p.His390Asp) c.1153C>G (p.His385Asp) n.776C>G n.307C>G c.328C>G (p.His110Asp) c.307C>G (p.His103Asp) c.1165C>G (p.His389Asp) c.1141C>G (p.His381Asp) c.1150C>G (p.His384Asp) c.1126C>G (p.His376Asp) c.1138C>G (p.His380Asp) | |
1 | g.16997047G>T | CA338254995 | ATP13A2 | c.1168C>A (p.His390Asn) c.1153C>A (p.His385Asn) n.776C>A n.307C>A c.328C>A (p.His110Asn) c.307C>A (p.His103Asn) c.1165C>A (p.His389Asn) c.1141C>A (p.His381Asn) c.1150C>A (p.His384Asn) c.1126C>A (p.His376Asn) c.1138C>A (p.His380Asn) | COSMIC COSMIC |
1 | g.16997048C>A | CA416062926 | ATP13A2 | c.1167G>T (p.Pro389=) c.1152G>T (p.Pro384=) n.775G>T n.306G>T c.327G>T (p.Pro109=) c.306G>T (p.Pro102=) c.1164G>T (p.Pro388=) c.1140G>T (p.Pro380=) c.1149G>T (p.Pro383=) c.1125G>T (p.Pro375=) c.1137G>T (p.Pro379=) | |
1 | g.16997048C= | CA1156032630 | ATP13A2 | c.1167G= (p.Pro389=) c.1152G= (p.Pro384=) n.775G= n.306G= c.327G= (p.Pro109=) c.306G= (p.Pro102=) c.1164G= (p.Pro388=) c.1140G= (p.Pro380=) c.1149G= (p.Pro383=) c.1125G= (p.Pro375=) c.1137G= (p.Pro379=) | |
1 | g.16997048C>G | CA416062925 | ATP13A2 | c.1167G>C (p.Pro389=) c.1152G>C (p.Pro384=) n.775G>C n.306G>C c.327G>C (p.Pro109=) c.306G>C (p.Pro102=) c.1164G>C (p.Pro388=) c.1140G>C (p.Pro380=) c.1149G>C (p.Pro383=) c.1125G>C (p.Pro375=) c.1137G>C (p.Pro379=) | |
1 | g.16997048C>T | CA637348 | ATP13A2 | c.1167G>A (p.Pro389=) c.1152G>A (p.Pro384=) n.775G>A n.306G>A c.327G>A (p.Pro109=) c.306G>A (p.Pro102=) c.1164G>A (p.Pro388=) c.1140G>A (p.Pro380=) c.1149G>A (p.Pro383=) c.1125G>A (p.Pro375=) c.1137G>A (p.Pro379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997049G>A | CA637349 | ATP13A2 | c.1166C>T (p.Pro389Leu) c.1151C>T (p.Pro384Leu) n.774C>T n.305C>T c.326C>T (p.Pro109Leu) c.305C>T (p.Pro102Leu) c.1163C>T (p.Pro388Leu) c.1139C>T (p.Pro380Leu) c.1148C>T (p.Pro383Leu) c.1124C>T (p.Pro375Leu) c.1136C>T (p.Pro379Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997049G>C | CA338254997 | ATP13A2 | c.1166C>G (p.Pro389Arg) c.1151C>G (p.Pro384Arg) n.774C>G n.305C>G c.326C>G (p.Pro109Arg) c.305C>G (p.Pro102Arg) c.1163C>G (p.Pro388Arg) c.1139C>G (p.Pro380Arg) c.1148C>G (p.Pro383Arg) c.1124C>G (p.Pro375Arg) c.1136C>G (p.Pro379Arg) | |
1 | g.16997049G= | CA1140638549 | ATP13A2 | c.1166C= (p.Pro389=) c.1151C= (p.Pro384=) n.774C= n.305C= c.326C= (p.Pro109=) c.305C= (p.Pro102=) c.1163C= (p.Pro388=) c.1139C= (p.Pro380=) c.1148C= (p.Pro383=) c.1124C= (p.Pro375=) c.1136C= (p.Pro379=) | |
1 | g.16997049G>T | CA338254996 | ATP13A2 | c.1166C>A (p.Pro389Gln) c.1151C>A (p.Pro384Gln) n.774C>A n.305C>A c.326C>A (p.Pro109Gln) c.305C>A (p.Pro102Gln) c.1163C>A (p.Pro388Gln) c.1139C>A (p.Pro380Gln) c.1148C>A (p.Pro383Gln) c.1124C>A (p.Pro375Gln) c.1136C>A (p.Pro379Gln) | |
1 | g.16997050G>A | CA338254998 | ATP13A2 | c.1165C>T (p.Pro389Ser) c.1150C>T (p.Pro384Ser) n.773C>T n.304C>T c.325C>T (p.Pro109Ser) c.304C>T (p.Pro102Ser) c.1162C>T (p.Pro388Ser) c.1138C>T (p.Pro380Ser) c.1147C>T (p.Pro383Ser) c.1123C>T (p.Pro375Ser) c.1135C>T (p.Pro379Ser) | |
1 | g.16997050G>C | CA338254999 | ATP13A2 | c.1165C>G (p.Pro389Ala) c.1150C>G (p.Pro384Ala) n.773C>G n.304C>G c.325C>G (p.Pro109Ala) c.304C>G (p.Pro102Ala) c.1162C>G (p.Pro388Ala) c.1138C>G (p.Pro380Ala) c.1147C>G (p.Pro383Ala) c.1123C>G (p.Pro375Ala) c.1135C>G (p.Pro379Ala) | |
1 | g.16997050G>T | CA338255000 | ATP13A2 | c.1165C>A (p.Pro389Thr) c.1150C>A (p.Pro384Thr) n.773C>A n.304C>A c.325C>A (p.Pro109Thr) c.304C>A (p.Pro102Thr) c.1162C>A (p.Pro388Thr) c.1138C>A (p.Pro380Thr) c.1147C>A (p.Pro383Thr) c.1123C>A (p.Pro375Thr) c.1135C>A (p.Pro379Thr) | |
1 | g.16997051T>A | CA416062938 | ATP13A2 | c.1164A>T (p.Gly388=) c.1149A>T (p.Gly383=) n.772A>T n.303A>T c.324A>T (p.Gly108=) c.303A>T (p.Gly101=) c.1161A>T (p.Gly387=) c.1137A>T (p.Gly379=) c.1146A>T (p.Gly382=) c.1122A>T (p.Gly374=) c.1134A>T (p.Gly378=) | |
1 | g.16997051T>C | CA416062942 | ATP13A2 | c.1164A>G (p.Gly388=) c.1149A>G (p.Gly383=) n.772A>G n.303A>G c.324A>G (p.Gly108=) c.303A>G (p.Gly101=) c.1161A>G (p.Gly387=) c.1137A>G (p.Gly379=) c.1146A>G (p.Gly382=) c.1122A>G (p.Gly374=) c.1134A>G (p.Gly378=) | gnomAD v4 |
1 | g.16997051T>G | CA416062943 | ATP13A2 | c.1164A>C (p.Gly388=) c.1149A>C (p.Gly383=) n.772A>C n.303A>C c.324A>C (p.Gly108=) c.303A>C (p.Gly101=) c.1161A>C (p.Gly387=) c.1137A>C (p.Gly379=) c.1146A>C (p.Gly382=) c.1122A>C (p.Gly374=) c.1134A>C (p.Gly378=) | |
1 | g.16997052C>A | CA338255001 | ATP13A2 | c.1163G>T (p.Gly388Val) c.1148G>T (p.Gly383Val) n.771G>T n.302G>T c.323G>T (p.Gly108Val) c.302G>T (p.Gly101Val) c.1160G>T (p.Gly387Val) c.1136G>T (p.Gly379Val) c.1145G>T (p.Gly382Val) c.1121G>T (p.Gly374Val) c.1133G>T (p.Gly378Val) | |
1 | g.16997052C= | CA1156032636 | ATP13A2 | c.1163G= (p.Gly388=) c.1148G= (p.Gly383=) n.771G= n.302G= c.323G= (p.Gly108=) c.302G= (p.Gly101=) c.1160G= (p.Gly387=) c.1136G= (p.Gly379=) c.1145G= (p.Gly382=) c.1121G= (p.Gly374=) c.1133G= (p.Gly378=) | |
1 | g.16997052C>G | CA338255002 | ATP13A2 | c.1163G>C (p.Gly388Ala) c.1148G>C (p.Gly383Ala) n.771G>C n.302G>C c.323G>C (p.Gly108Ala) c.302G>C (p.Gly101Ala) c.1160G>C (p.Gly387Ala) c.1136G>C (p.Gly379Ala) c.1145G>C (p.Gly382Ala) c.1121G>C (p.Gly374Ala) c.1133G>C (p.Gly378Ala) | |
1 | g.16997052C>T | CA637350 | ATP13A2 | c.1163G>A (p.Gly388Glu) c.1148G>A (p.Gly383Glu) n.771G>A n.302G>A c.323G>A (p.Gly108Glu) c.302G>A (p.Gly101Glu) c.1160G>A (p.Gly387Glu) c.1136G>A (p.Gly379Glu) c.1145G>A (p.Gly382Glu) c.1121G>A (p.Gly374Glu) c.1133G>A (p.Gly378Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997053C>A | CA637351 | ATP13A2 | c.1162G>T (p.Gly388Ter) c.1147G>T (p.Gly383Ter) n.770G>T n.301G>T c.322G>T (p.Gly108Ter) c.301G>T (p.Gly101Ter) c.1159G>T (p.Gly387Ter) c.1135G>T (p.Gly379Ter) c.1144G>T (p.Gly382Ter) c.1120G>T (p.Gly374Ter) c.1132G>T (p.Gly378Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997053C= | CA1156032644 | ATP13A2 | c.1162G= (p.Gly388=) c.1147G= (p.Gly383=) n.770G= n.301G= c.322G= (p.Gly108=) c.301G= (p.Gly101=) c.1159G= (p.Gly387=) c.1135G= (p.Gly379=) c.1144G= (p.Gly382=) c.1120G= (p.Gly374=) c.1132G= (p.Gly378=) | |
1 | g.16997053C>G | CA338255003 | ATP13A2 | c.1162G>C (p.Gly388Arg) c.1147G>C (p.Gly383Arg) n.770G>C n.301G>C c.322G>C (p.Gly108Arg) c.301G>C (p.Gly101Arg) c.1159G>C (p.Gly387Arg) c.1135G>C (p.Gly379Arg) c.1144G>C (p.Gly382Arg) c.1120G>C (p.Gly374Arg) c.1132G>C (p.Gly378Arg) | |
1 | g.16997053C>T | CA338255004 | ATP13A2 | c.1162G>A (p.Gly388Arg) c.1147G>A (p.Gly383Arg) n.770G>A n.301G>A c.322G>A (p.Gly108Arg) c.301G>A (p.Gly101Arg) c.1159G>A (p.Gly387Arg) c.1135G>A (p.Gly379Arg) c.1144G>A (p.Gly382Arg) c.1120G>A (p.Gly374Arg) c.1132G>A (p.Gly378Arg) | |
1 | g.16997054C>A | CA416062951 | ATP13A2 | c.1161G>T (p.Val387=) c.1146G>T (p.Val382=) n.769G>T n.300G>T c.321G>T (p.Val107=) c.300G>T (p.Val100=) c.1158G>T (p.Val386=) c.1134G>T (p.Val378=) c.1143G>T (p.Val381=) c.1119G>T (p.Val373=) c.1131G>T (p.Val377=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997054C= | CA1156032646 | ATP13A2 | c.1161G= (p.Val387=) c.1146G= (p.Val382=) n.769G= n.300G= c.321G= (p.Val107=) c.300G= (p.Val100=) c.1158G= (p.Val386=) c.1134G= (p.Val378=) c.1143G= (p.Val381=) c.1119G= (p.Val373=) c.1131G= (p.Val377=) | |
1 | g.16997054C>G | CA416062954 | ATP13A2 | c.1161G>C (p.Val387=) c.1146G>C (p.Val382=) n.769G>C n.300G>C c.321G>C (p.Val107=) c.300G>C (p.Val100=) c.1158G>C (p.Val386=) c.1134G>C (p.Val378=) c.1143G>C (p.Val381=) c.1119G>C (p.Val373=) c.1131G>C (p.Val377=) | |
1 | g.16997054C>T | CA416062966 | ATP13A2 | c.1161G>A (p.Val387=) c.1146G>A (p.Val382=) n.769G>A n.300G>A c.321G>A (p.Val107=) c.300G>A (p.Val100=) c.1158G>A (p.Val386=) c.1134G>A (p.Val378=) c.1143G>A (p.Val381=) c.1119G>A (p.Val373=) c.1131G>A (p.Val377=) | |
1 | g.16997055A>C | CA338255005 | ATP13A2 | c.1160T>G (p.Val387Gly) c.1145T>G (p.Val382Gly) n.768T>G n.299T>G c.320T>G (p.Val107Gly) c.299T>G (p.Val100Gly) c.1157T>G (p.Val386Gly) c.1133T>G (p.Val378Gly) c.1142T>G (p.Val381Gly) c.1118T>G (p.Val373Gly) c.1130T>G (p.Val377Gly) | |
1 | g.16997055A>G | CA338255006 | ATP13A2 | c.1160T>C (p.Val387Ala) c.1145T>C (p.Val382Ala) n.768T>C n.299T>C c.320T>C (p.Val107Ala) c.299T>C (p.Val100Ala) c.1157T>C (p.Val386Ala) c.1133T>C (p.Val378Ala) c.1142T>C (p.Val381Ala) c.1118T>C (p.Val373Ala) c.1130T>C (p.Val377Ala) | |
1 | g.16997055A>T | CA338255007 | ATP13A2 | c.1160T>A (p.Val387Glu) c.1145T>A (p.Val382Glu) n.768T>A n.299T>A c.320T>A (p.Val107Glu) c.299T>A (p.Val100Glu) c.1157T>A (p.Val386Glu) c.1133T>A (p.Val378Glu) c.1142T>A (p.Val381Glu) c.1118T>A (p.Val373Glu) c.1130T>A (p.Val377Glu) | |
1 | g.16997056del | CA2643674559 | ATP13A2 | c.1159del (p.Val387TrpfsTer9) c.1144del (p.Val382TrpfsTer9) n.767del n.298del c.319del (p.Val107TrpfsTer9) c.298del (p.Val100TrpfsTer9) c.1156del (p.Val386TrpfsTer9) c.1132del (p.Val378TrpfsTer9) c.1141del (p.Val381TrpfsTer9) c.1117del (p.Val373TrpfsTer9) c.1129del (p.Val377TrpfsTer9) | gnomAD v4 |
1 | g.16997056C>A | CA338255009 | ATP13A2 | c.1159G>T (p.Val387Leu) c.1144G>T (p.Val382Leu) n.767G>T n.298G>T c.319G>T (p.Val107Leu) c.298G>T (p.Val100Leu) c.1156G>T (p.Val386Leu) c.1132G>T (p.Val378Leu) c.1141G>T (p.Val381Leu) c.1117G>T (p.Val373Leu) c.1129G>T (p.Val377Leu) | |
1 | g.16997056C= | CA1156032653 | ATP13A2 | c.1159G= (p.Val387=) c.1144G= (p.Val382=) n.767G= n.298G= c.319G= (p.Val107=) c.298G= (p.Val100=) c.1156G= (p.Val386=) c.1132G= (p.Val378=) c.1141G= (p.Val381=) c.1117G= (p.Val373=) c.1129G= (p.Val377=) | |
1 | g.16997056C>G | CA338255010 | ATP13A2 | c.1159G>C (p.Val387Leu) c.1144G>C (p.Val382Leu) n.767G>C n.298G>C c.319G>C (p.Val107Leu) c.298G>C (p.Val100Leu) c.1156G>C (p.Val386Leu) c.1132G>C (p.Val378Leu) c.1141G>C (p.Val381Leu) c.1117G>C (p.Val373Leu) c.1129G>C (p.Val377Leu) | |
1 | g.16997056C>T | CA338255008 | ATP13A2 | c.1159G>A (p.Val387Met) c.1144G>A (p.Val382Met) n.767G>A n.298G>A c.319G>A (p.Val107Met) c.298G>A (p.Val100Met) c.1156G>A (p.Val386Met) c.1132G>A (p.Val378Met) c.1141G>A (p.Val381Met) c.1117G>A (p.Val373Met) c.1129G>A (p.Val377Met) | dbSNP |
1 | g.16997057A= | CA1156032656 | ATP13A2 | c.1158T= (p.Tyr386=) c.1143T= (p.Tyr381=) n.766T= n.297T= c.318T= (p.Tyr106=) c.297T= (p.Tyr99=) c.1155T= (p.Tyr385=) c.1131T= (p.Tyr377=) c.1140T= (p.Tyr380=) c.1116T= (p.Tyr372=) c.1128T= (p.Tyr376=) | |
1 | g.16997057A>C | CA338255011 | ATP13A2 | c.1158T>G (p.Tyr386Ter) c.1143T>G (p.Tyr381Ter) n.766T>G n.297T>G c.318T>G (p.Tyr106Ter) c.297T>G (p.Tyr99Ter) c.1155T>G (p.Tyr385Ter) c.1131T>G (p.Tyr377Ter) c.1140T>G (p.Tyr380Ter) c.1116T>G (p.Tyr372Ter) c.1128T>G (p.Tyr376Ter) | |
1 | g.16997057A>G | CA416063002 | ATP13A2 | c.1158T>C (p.Tyr386=) c.1143T>C (p.Tyr381=) n.766T>C n.297T>C c.318T>C (p.Tyr106=) c.297T>C (p.Tyr99=) c.1155T>C (p.Tyr385=) c.1131T>C (p.Tyr377=) c.1140T>C (p.Tyr380=) c.1116T>C (p.Tyr372=) c.1128T>C (p.Tyr376=) | dbSNP |
1 | g.16997057A>T | CA338255012 | ATP13A2 | c.1158T>A (p.Tyr386Ter) c.1143T>A (p.Tyr381Ter) n.766T>A n.297T>A c.318T>A (p.Tyr106Ter) c.297T>A (p.Tyr99Ter) c.1155T>A (p.Tyr385Ter) c.1131T>A (p.Tyr377Ter) c.1140T>A (p.Tyr380Ter) c.1116T>A (p.Tyr372Ter) c.1128T>A (p.Tyr376Ter) | |
1 | g.16997058T>A | CA18638307 | ATP13A2 | c.1157A>T (p.Tyr386Phe) c.1142A>T (p.Tyr381Phe) n.765A>T n.296A>T c.317A>T (p.Tyr106Phe) c.296A>T (p.Tyr99Phe) c.1154A>T (p.Tyr385Phe) c.1130A>T (p.Tyr377Phe) c.1139A>T (p.Tyr380Phe) c.1115A>T (p.Tyr372Phe) c.1127A>T (p.Tyr376Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997058T>C | CA637352 | ATP13A2 | c.1157A>G (p.Tyr386Cys) c.1142A>G (p.Tyr381Cys) n.765A>G n.296A>G c.317A>G (p.Tyr106Cys) c.296A>G (p.Tyr99Cys) c.1154A>G (p.Tyr385Cys) c.1130A>G (p.Tyr377Cys) c.1139A>G (p.Tyr380Cys) c.1115A>G (p.Tyr372Cys) c.1127A>G (p.Tyr376Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997058T>G | CA338255013 | ATP13A2 | c.1157A>C (p.Tyr386Ser) c.1142A>C (p.Tyr381Ser) n.765A>C n.296A>C c.317A>C (p.Tyr106Ser) c.296A>C (p.Tyr99Ser) c.1154A>C (p.Tyr385Ser) c.1130A>C (p.Tyr377Ser) c.1139A>C (p.Tyr380Ser) c.1115A>C (p.Tyr372Ser) c.1127A>C (p.Tyr376Ser) | |
1 | g.16997058T= | CA1156032663 | ATP13A2 | c.1157A= (p.Tyr386=) c.1142A= (p.Tyr381=) n.765A= n.296A= c.317A= (p.Tyr106=) c.296A= (p.Tyr99=) c.1154A= (p.Tyr385=) c.1130A= (p.Tyr377=) c.1139A= (p.Tyr380=) c.1115A= (p.Tyr372=) c.1127A= (p.Tyr376=) | |
1 | g.16997059A>C | CA338255016 | ATP13A2 | c.1156T>G (p.Tyr386Asp) c.1141T>G (p.Tyr381Asp) n.764T>G n.295T>G c.316T>G (p.Tyr106Asp) c.295T>G (p.Tyr99Asp) c.1153T>G (p.Tyr385Asp) c.1129T>G (p.Tyr377Asp) c.1138T>G (p.Tyr380Asp) c.1114T>G (p.Tyr372Asp) c.1126T>G (p.Tyr376Asp) | |
1 | g.16997059A>G | CA338255015 | ATP13A2 | c.1156T>C (p.Tyr386His) c.1141T>C (p.Tyr381His) n.764T>C n.295T>C c.316T>C (p.Tyr106His) c.295T>C (p.Tyr99His) c.1153T>C (p.Tyr385His) c.1129T>C (p.Tyr377His) c.1138T>C (p.Tyr380His) c.1114T>C (p.Tyr372His) c.1126T>C (p.Tyr376His) | gnomAD v4 |
1 | g.16997059A>T | CA338255014 | ATP13A2 | c.1156T>A (p.Tyr386Asn) c.1141T>A (p.Tyr381Asn) n.764T>A n.295T>A c.316T>A (p.Tyr106Asn) c.295T>A (p.Tyr99Asn) c.1153T>A (p.Tyr385Asn) c.1129T>A (p.Tyr377Asn) c.1138T>A (p.Tyr380Asn) c.1114T>A (p.Tyr372Asn) c.1126T>A (p.Tyr376Asn) | |
1 | g.16997060G>A | CA416063021 | ATP13A2 | c.1155C>T (p.Ala385=) c.1140C>T (p.Ala380=) n.763C>T n.294C>T c.315C>T (p.Ala105=) c.294C>T (p.Ala98=) c.1152C>T (p.Ala384=) c.1128C>T (p.Ala376=) c.1137C>T (p.Ala379=) c.1113C>T (p.Ala371=) c.1125C>T (p.Ala375=) | dbSNP |
1 | g.16997060G>C | CA416063025 | ATP13A2 | c.1155C>G (p.Ala385=) c.1140C>G (p.Ala380=) n.763C>G n.294C>G c.315C>G (p.Ala105=) c.294C>G (p.Ala98=) c.1152C>G (p.Ala384=) c.1128C>G (p.Ala376=) c.1137C>G (p.Ala379=) c.1113C>G (p.Ala371=) c.1125C>G (p.Ala375=) | |
1 | g.16997060G= | CA1156032671 | ATP13A2 | c.1155C= (p.Ala385=) c.1140C= (p.Ala380=) n.763C= n.294C= c.315C= (p.Ala105=) c.294C= (p.Ala98=) c.1152C= (p.Ala384=) c.1128C= (p.Ala376=) c.1137C= (p.Ala379=) c.1113C= (p.Ala371=) c.1125C= (p.Ala375=) | |
1 | g.16997060G>T | CA416063024 | ATP13A2 | c.1155C>A (p.Ala385=) c.1140C>A (p.Ala380=) n.763C>A n.294C>A c.315C>A (p.Ala105=) c.294C>A (p.Ala98=) c.1152C>A (p.Ala384=) c.1128C>A (p.Ala376=) c.1137C>A (p.Ala379=) c.1113C>A (p.Ala371=) c.1125C>A (p.Ala375=) | |
1 | g.16997061G>A | CA338255017 | ATP13A2 | c.1154C>T (p.Ala385Val) c.1139C>T (p.Ala380Val) n.762C>T n.293C>T c.314C>T (p.Ala105Val) c.293C>T (p.Ala98Val) c.1151C>T (p.Ala384Val) c.1127C>T (p.Ala376Val) c.1136C>T (p.Ala379Val) c.1112C>T (p.Ala371Val) c.1124C>T (p.Ala375Val) | dbSNP gnomAD v4 |
1 | g.16997061G>C | CA338255018 | ATP13A2 | c.1154C>G (p.Ala385Gly) c.1139C>G (p.Ala380Gly) n.762C>G n.293C>G c.314C>G (p.Ala105Gly) c.293C>G (p.Ala98Gly) c.1151C>G (p.Ala384Gly) c.1127C>G (p.Ala376Gly) c.1136C>G (p.Ala379Gly) c.1112C>G (p.Ala371Gly) c.1124C>G (p.Ala375Gly) | |
1 | g.16997061G= | CA1156032676 | ATP13A2 | c.1154C= (p.Ala385=) c.1139C= (p.Ala380=) n.762C= n.293C= c.314C= (p.Ala105=) c.293C= (p.Ala98=) c.1151C= (p.Ala384=) c.1127C= (p.Ala376=) c.1136C= (p.Ala379=) c.1112C= (p.Ala371=) c.1124C= (p.Ala375=) | |
1 | g.16997061G>T | CA637353 | ATP13A2 | c.1154C>A (p.Ala385Asp) c.1139C>A (p.Ala380Asp) n.762C>A n.293C>A c.314C>A (p.Ala105Asp) c.293C>A (p.Ala98Asp) c.1151C>A (p.Ala384Asp) c.1127C>A (p.Ala376Asp) c.1136C>A (p.Ala379Asp) c.1112C>A (p.Ala371Asp) c.1124C>A (p.Ala375Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997062C>A | CA338255019 | ATP13A2 | c.1153G>T (p.Ala385Ser) c.1138G>T (p.Ala380Ser) n.761G>T n.292G>T c.313G>T (p.Ala105Ser) c.292G>T (p.Ala98Ser) c.1150G>T (p.Ala384Ser) c.1126G>T (p.Ala376Ser) c.1135G>T (p.Ala379Ser) c.1111G>T (p.Ala371Ser) c.1123G>T (p.Ala375Ser) | |
1 | g.16997062C>G | CA338255020 | ATP13A2 | c.1153G>C (p.Ala385Pro) c.1138G>C (p.Ala380Pro) n.761G>C n.292G>C c.313G>C (p.Ala105Pro) c.292G>C (p.Ala98Pro) c.1150G>C (p.Ala384Pro) c.1126G>C (p.Ala376Pro) c.1135G>C (p.Ala379Pro) c.1111G>C (p.Ala371Pro) c.1123G>C (p.Ala375Pro) | gnomAD v4 |
1 | g.16997062C>T | CA338255021 | ATP13A2 | c.1153G>A (p.Ala385Thr) c.1138G>A (p.Ala380Thr) n.761G>A n.292G>A c.313G>A (p.Ala105Thr) c.292G>A (p.Ala98Thr) c.1150G>A (p.Ala384Thr) c.1126G>A (p.Ala376Thr) c.1135G>A (p.Ala379Thr) c.1111G>A (p.Ala371Thr) c.1123G>A (p.Ala375Thr) | |
1 | g.16997063C>A | CA416063038 | ATP13A2 | c.1152G>T (p.Arg384=) c.1137G>T (p.Arg379=) n.760G>T n.291G>T c.312G>T (p.Arg104=) c.291G>T (p.Arg97=) c.1149G>T (p.Arg383=) c.1125G>T (p.Arg375=) c.1134G>T (p.Arg378=) c.1110G>T (p.Arg370=) c.1122G>T (p.Arg374=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997063C= | CA1156032685 | ATP13A2 | c.1152G= (p.Arg384=) c.1137G= (p.Arg379=) n.760G= n.291G= c.312G= (p.Arg104=) c.291G= (p.Arg97=) c.1149G= (p.Arg383=) c.1125G= (p.Arg375=) c.1134G= (p.Arg378=) c.1110G= (p.Arg370=) c.1122G= (p.Arg374=) | |
1 | g.16997063C>G | CA416063036 | ATP13A2 | c.1152G>C (p.Arg384=) c.1137G>C (p.Arg379=) n.760G>C n.291G>C c.312G>C (p.Arg104=) c.291G>C (p.Arg97=) c.1149G>C (p.Arg383=) c.1125G>C (p.Arg375=) c.1134G>C (p.Arg378=) c.1110G>C (p.Arg370=) c.1122G>C (p.Arg374=) | |
1 | g.16997063C>T | CA416063032 | ATP13A2 | c.1152G>A (p.Arg384=) c.1137G>A (p.Arg379=) n.760G>A n.291G>A c.312G>A (p.Arg104=) c.291G>A (p.Arg97=) c.1149G>A (p.Arg383=) c.1125G>A (p.Arg375=) c.1134G>A (p.Arg378=) c.1110G>A (p.Arg370=) c.1122G>A (p.Arg374=) | |
1 | g.16997064C>A | CA338255023 | ATP13A2 | c.1151G>T (p.Arg384Leu) c.1136G>T (p.Arg379Leu) n.759G>T n.290G>T c.311G>T (p.Arg104Leu) c.290G>T (p.Arg97Leu) c.1148G>T (p.Arg383Leu) c.1124G>T (p.Arg375Leu) c.1133G>T (p.Arg378Leu) c.1109G>T (p.Arg370Leu) c.1121G>T (p.Arg374Leu) | |
1 | g.16997064C= | CA1141933929 | ATP13A2 | c.1151G= (p.Arg384=) c.1136G= (p.Arg379=) n.759G= n.290G= c.311G= (p.Arg104=) c.290G= (p.Arg97=) c.1148G= (p.Arg383=) c.1124G= (p.Arg375=) c.1133G= (p.Arg378=) c.1109G= (p.Arg370=) c.1121G= (p.Arg374=) | |
1 | g.16997064C>G | CA338255022 | ATP13A2 | c.1151G>C (p.Arg384Pro) c.1136G>C (p.Arg379Pro) n.759G>C n.290G>C c.311G>C (p.Arg104Pro) c.290G>C (p.Arg97Pro) c.1148G>C (p.Arg383Pro) c.1124G>C (p.Arg375Pro) c.1133G>C (p.Arg378Pro) c.1109G>C (p.Arg370Pro) c.1121G>C (p.Arg374Pro) | |
1 | g.16997064C>T | CA637354 | ATP13A2 | c.1151G>A (p.Arg384Gln) c.1136G>A (p.Arg379Gln) n.759G>A n.290G>A c.311G>A (p.Arg104Gln) c.290G>A (p.Arg97Gln) c.1148G>A (p.Arg383Gln) c.1124G>A (p.Arg375Gln) c.1133G>A (p.Arg378Gln) c.1109G>A (p.Arg370Gln) c.1121G>A (p.Arg374Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997065G>A | CA637355 | ATP13A2 | c.1150C>T (p.Arg384Trp) c.1135C>T (p.Arg379Trp) n.758C>T n.289C>T c.310C>T (p.Arg104Trp) c.289C>T (p.Arg97Trp) c.1147C>T (p.Arg383Trp) c.1123C>T (p.Arg375Trp) c.1132C>T (p.Arg378Trp) c.1108C>T (p.Arg370Trp) c.1120C>T (p.Arg374Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997065G>C | CA338255024 | ATP13A2 | c.1150C>G (p.Arg384Gly) c.1135C>G (p.Arg379Gly) n.758C>G n.289C>G c.310C>G (p.Arg104Gly) c.289C>G (p.Arg97Gly) c.1147C>G (p.Arg383Gly) c.1123C>G (p.Arg375Gly) c.1132C>G (p.Arg378Gly) c.1108C>G (p.Arg370Gly) c.1120C>G (p.Arg374Gly) | gnomAD v4 |
1 | g.16997065G= | CA1156032692 | ATP13A2 | c.1150C= (p.Arg384=) c.1135C= (p.Arg379=) n.758C= n.289C= c.310C= (p.Arg104=) c.289C= (p.Arg97=) c.1147C= (p.Arg383=) c.1123C= (p.Arg375=) c.1132C= (p.Arg378=) c.1108C= (p.Arg370=) c.1120C= (p.Arg374=) | |
1 | g.16997065G>T | CA416063045 | ATP13A2 | c.1150C>A (p.Arg384=) c.1135C>A (p.Arg379=) n.758C>A n.289C>A c.310C>A (p.Arg104=) c.289C>A (p.Arg97=) c.1147C>A (p.Arg383=) c.1123C>A (p.Arg375=) c.1132C>A (p.Arg378=) c.1108C>A (p.Arg370=) c.1120C>A (p.Arg374=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997066G>A | CA416063051 | ATP13A2 | c.1149C>T (p.Ala383=) c.1134C>T (p.Ala378=) n.757C>T n.288C>T c.309C>T (p.Ala103=) c.288C>T (p.Ala96=) c.1146C>T (p.Ala382=) c.1122C>T (p.Ala374=) c.1131C>T (p.Ala377=) c.1107C>T (p.Ala369=) c.1119C>T (p.Ala373=) | gnomAD v4 |
1 | g.16997066G>C | CA416063049 | ATP13A2 | c.1149C>G (p.Ala383=) c.1134C>G (p.Ala378=) n.757C>G n.288C>G c.309C>G (p.Ala103=) c.288C>G (p.Ala96=) c.1146C>G (p.Ala382=) c.1122C>G (p.Ala374=) c.1131C>G (p.Ala377=) c.1107C>G (p.Ala369=) c.1119C>G (p.Ala373=) | |
1 | g.16997066G>T | CA416063047 | ATP13A2 | c.1149C>A (p.Ala383=) c.1134C>A (p.Ala378=) n.757C>A n.288C>A c.309C>A (p.Ala103=) c.288C>A (p.Ala96=) c.1146C>A (p.Ala382=) c.1122C>A (p.Ala374=) c.1131C>A (p.Ala377=) c.1107C>A (p.Ala369=) c.1119C>A (p.Ala373=) | |
1 | g.16997067G>A | CA338255025 | ATP13A2 | c.1148C>T (p.Ala383Val) c.1133C>T (p.Ala378Val) n.756C>T n.287C>T c.308C>T (p.Ala103Val) c.287C>T (p.Ala96Val) c.1145C>T (p.Ala382Val) c.1121C>T (p.Ala374Val) c.1130C>T (p.Ala377Val) c.1106C>T (p.Ala369Val) c.1118C>T (p.Ala373Val) | gnomAD v4 |
1 | g.16997067G>C | CA338255026 | ATP13A2 | c.1148C>G (p.Ala383Gly) c.1133C>G (p.Ala378Gly) n.756C>G n.287C>G c.308C>G (p.Ala103Gly) c.287C>G (p.Ala96Gly) c.1145C>G (p.Ala382Gly) c.1121C>G (p.Ala374Gly) c.1130C>G (p.Ala377Gly) c.1106C>G (p.Ala369Gly) c.1118C>G (p.Ala373Gly) | |
1 | g.16997067G>T | CA338255027 | ATP13A2 | c.1148C>A (p.Ala383Asp) c.1133C>A (p.Ala378Asp) n.756C>A n.287C>A c.308C>A (p.Ala103Asp) c.287C>A (p.Ala96Asp) c.1145C>A (p.Ala382Asp) c.1121C>A (p.Ala374Asp) c.1130C>A (p.Ala377Asp) c.1106C>A (p.Ala369Asp) c.1118C>A (p.Ala373Asp) | |
1 | g.16997068C>A | CA338255028 | ATP13A2 | c.1147G>T (p.Ala383Ser) c.1132G>T (p.Ala378Ser) n.755G>T n.286G>T c.307G>T (p.Ala103Ser) c.286G>T (p.Ala96Ser) c.1144G>T (p.Ala382Ser) c.1120G>T (p.Ala374Ser) c.1129G>T (p.Ala377Ser) c.1105G>T (p.Ala369Ser) c.1117G>T (p.Ala373Ser) | |
1 | g.16997068C>G | CA338255029 | ATP13A2 | c.1147G>C (p.Ala383Pro) c.1132G>C (p.Ala378Pro) n.755G>C n.286G>C c.307G>C (p.Ala103Pro) c.286G>C (p.Ala96Pro) c.1144G>C (p.Ala382Pro) c.1120G>C (p.Ala374Pro) c.1129G>C (p.Ala377Pro) c.1105G>C (p.Ala369Pro) c.1117G>C (p.Ala373Pro) | |
1 | g.16997068C>T | CA338255030 | ATP13A2 | c.1147G>A (p.Ala383Thr) c.1132G>A (p.Ala378Thr) n.755G>A n.286G>A c.307G>A (p.Ala103Thr) c.286G>A (p.Ala96Thr) c.1144G>A (p.Ala382Thr) c.1120G>A (p.Ala374Thr) c.1129G>A (p.Ala377Thr) c.1105G>A (p.Ala369Thr) c.1117G>A (p.Ala373Thr) | |
1 | g.16997069C>A | CA338255031 | ATP13A2 | c.1146G>T (p.Gln382His) c.1131G>T (p.Gln377His) n.754G>T n.285G>T c.306G>T (p.Gln102His) c.285G>T (p.Gln95His) c.1143G>T (p.Gln381His) c.1119G>T (p.Gln373His) c.1128G>T (p.Gln376His) c.1104G>T (p.Gln368His) c.1116G>T (p.Gln372His) | |
1 | g.16997069C>G | CA338255032 | ATP13A2 | c.1146G>C (p.Gln382His) c.1131G>C (p.Gln377His) n.754G>C n.285G>C c.306G>C (p.Gln102His) c.285G>C (p.Gln95His) c.1143G>C (p.Gln381His) c.1119G>C (p.Gln373His) c.1128G>C (p.Gln376His) c.1104G>C (p.Gln368His) c.1116G>C (p.Gln372His) | |
1 | g.16997069C>T | CA416063086 | ATP13A2 | c.1146G>A (p.Gln382=) c.1131G>A (p.Gln377=) n.754G>A n.285G>A c.306G>A (p.Gln102=) c.285G>A (p.Gln95=) c.1143G>A (p.Gln381=) c.1119G>A (p.Gln373=) c.1128G>A (p.Gln376=) c.1104G>A (p.Gln368=) c.1116G>A (p.Gln372=) | |
1 | g.16997070T>A | CA338255033 | ATP13A2 | c.1145A>T (p.Gln382Leu) c.1130A>T (p.Gln377Leu) n.753A>T n.284A>T c.305A>T (p.Gln102Leu) c.284A>T (p.Gln95Leu) c.1142A>T (p.Gln381Leu) c.1118A>T (p.Gln373Leu) c.1127A>T (p.Gln376Leu) c.1103A>T (p.Gln368Leu) c.1115A>T (p.Gln372Leu) | |
1 | g.16997070T>C | CA18638319 | ATP13A2 | c.1145A>G (p.Gln382Arg) c.1130A>G (p.Gln377Arg) n.753A>G n.284A>G c.305A>G (p.Gln102Arg) c.284A>G (p.Gln95Arg) c.1142A>G (p.Gln381Arg) c.1118A>G (p.Gln373Arg) c.1127A>G (p.Gln376Arg) c.1103A>G (p.Gln368Arg) c.1115A>G (p.Gln372Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16997070T>G | CA338255034 | ATP13A2 | c.1145A>C (p.Gln382Pro) c.1130A>C (p.Gln377Pro) n.753A>C n.284A>C c.305A>C (p.Gln102Pro) c.284A>C (p.Gln95Pro) c.1142A>C (p.Gln381Pro) c.1118A>C (p.Gln373Pro) c.1127A>C (p.Gln376Pro) c.1103A>C (p.Gln368Pro) c.1115A>C (p.Gln372Pro) | |
1 | g.16997070T= | CA1156032700 | ATP13A2 | c.1145A= (p.Gln382=) c.1130A= (p.Gln377=) n.753A= n.284A= c.305A= (p.Gln102=) c.284A= (p.Gln95=) c.1142A= (p.Gln381=) c.1118A= (p.Gln373=) c.1127A= (p.Gln376=) c.1103A= (p.Gln368=) c.1115A= (p.Gln372=) | |
1 | g.16997071G>A | CA338255035 | ATP13A2 | c.1144C>T (p.Gln382Ter) c.1129C>T (p.Gln377Ter) n.752C>T n.283C>T c.304C>T (p.Gln102Ter) c.283C>T (p.Gln95Ter) c.1141C>T (p.Gln381Ter) c.1117C>T (p.Gln373Ter) c.1126C>T (p.Gln376Ter) c.1102C>T (p.Gln368Ter) c.1114C>T (p.Gln372Ter) | dbSNP |
1 | g.16997071G>C | CA338255037 | ATP13A2 | c.1144C>G (p.Gln382Glu) c.1129C>G (p.Gln377Glu) n.752C>G n.283C>G c.304C>G (p.Gln102Glu) c.283C>G (p.Gln95Glu) c.1141C>G (p.Gln381Glu) c.1117C>G (p.Gln373Glu) c.1126C>G (p.Gln376Glu) c.1102C>G (p.Gln368Glu) c.1114C>G (p.Gln372Glu) | |
1 | g.16997071G= | CA1156032705 | ATP13A2 | c.1144C= (p.Gln382=) c.1129C= (p.Gln377=) n.752C= n.283C= c.304C= (p.Gln102=) c.283C= (p.Gln95=) c.1141C= (p.Gln381=) c.1117C= (p.Gln373=) c.1126C= (p.Gln376=) c.1102C= (p.Gln368=) c.1114C= (p.Gln372=) | |
1 | g.16997071G>T | CA338255036 | ATP13A2 | c.1144C>A (p.Gln382Lys) c.1129C>A (p.Gln377Lys) n.752C>A n.283C>A c.304C>A (p.Gln102Lys) c.283C>A (p.Gln95Lys) c.1141C>A (p.Gln381Lys) c.1117C>A (p.Gln373Lys) c.1126C>A (p.Gln376Lys) c.1102C>A (p.Gln368Lys) c.1114C>A (p.Gln372Lys) | |
1 | g.16997072C>A | CA338255038 | ATP13A2 | c.1143G>T (p.Leu381Phe) c.1128G>T (p.Leu376Phe) n.751G>T n.282G>T c.303G>T (p.Leu101Phe) c.282G>T (p.Leu94Phe) c.1140G>T (p.Leu380Phe) c.1116G>T (p.Leu372Phe) c.1125G>T (p.Leu375Phe) c.1101G>T (p.Leu367Phe) c.1113G>T (p.Leu371Phe) | |
1 | g.16997072C>G | CA338255039 | ATP13A2 | c.1143G>C (p.Leu381Phe) c.1128G>C (p.Leu376Phe) n.751G>C n.282G>C c.303G>C (p.Leu101Phe) c.282G>C (p.Leu94Phe) c.1140G>C (p.Leu380Phe) c.1116G>C (p.Leu372Phe) c.1125G>C (p.Leu375Phe) c.1101G>C (p.Leu367Phe) c.1113G>C (p.Leu371Phe) | |
1 | g.16997072C>T | CA416063125 | ATP13A2 | c.1143G>A (p.Leu381=) c.1128G>A (p.Leu376=) n.751G>A n.282G>A c.303G>A (p.Leu101=) c.282G>A (p.Leu94=) c.1140G>A (p.Leu380=) c.1116G>A (p.Leu372=) c.1125G>A (p.Leu375=) c.1101G>A (p.Leu367=) c.1113G>A (p.Leu371=) | |
1 | g.16997073A>C | CA338255040 | ATP13A2 | c.1142T>G (p.Leu381Trp) c.1127T>G (p.Leu376Trp) n.750T>G n.281T>G c.302T>G (p.Leu101Trp) c.281T>G (p.Leu94Trp) c.1139T>G (p.Leu380Trp) c.1115T>G (p.Leu372Trp) c.1124T>G (p.Leu375Trp) c.1100T>G (p.Leu367Trp) c.1112T>G (p.Leu371Trp) | |
1 | g.16997073A>G | CA338255041 | ATP13A2 | c.1142T>C (p.Leu381Ser) c.1127T>C (p.Leu376Ser) n.750T>C n.281T>C c.302T>C (p.Leu101Ser) c.281T>C (p.Leu94Ser) c.1139T>C (p.Leu380Ser) c.1115T>C (p.Leu372Ser) c.1124T>C (p.Leu375Ser) c.1100T>C (p.Leu367Ser) c.1112T>C (p.Leu371Ser) | |
1 | g.16997073A>T | CA338255042 | ATP13A2 | c.1142T>A (p.Leu381Ter) c.1127T>A (p.Leu376Ter) n.750T>A n.281T>A c.302T>A (p.Leu101Ter) c.281T>A (p.Leu94Ter) c.1139T>A (p.Leu380Ter) c.1115T>A (p.Leu372Ter) c.1124T>A (p.Leu375Ter) c.1100T>A (p.Leu367Ter) c.1112T>A (p.Leu371Ter) | |
1 | g.16997074A>C | CA338255043 | ATP13A2 | c.1141T>G (p.Leu381Val) c.1126T>G (p.Leu376Val) n.749T>G n.280T>G c.301T>G (p.Leu101Val) c.280T>G (p.Leu94Val) c.1138T>G (p.Leu380Val) c.1114T>G (p.Leu372Val) c.1123T>G (p.Leu375Val) c.1099T>G (p.Leu367Val) c.1111T>G (p.Leu371Val) | |
1 | g.16997074A>G | CA416063128 | ATP13A2 | c.1141T>C (p.Leu381=) c.1126T>C (p.Leu376=) n.749T>C n.280T>C c.301T>C (p.Leu101=) c.280T>C (p.Leu94=) c.1138T>C (p.Leu380=) c.1114T>C (p.Leu372=) c.1123T>C (p.Leu375=) c.1099T>C (p.Leu367=) c.1111T>C (p.Leu371=) | |
1 | g.16997074A>T | CA338255044 | ATP13A2 | c.1141T>A (p.Leu381Met) c.1126T>A (p.Leu376Met) n.749T>A n.280T>A c.301T>A (p.Leu101Met) c.280T>A (p.Leu94Met) c.1138T>A (p.Leu380Met) c.1114T>A (p.Leu372Met) c.1123T>A (p.Leu375Met) c.1099T>A (p.Leu367Met) c.1111T>A (p.Leu371Met) | |
1 | g.16997075G>A | CA416063134 | ATP13A2 | c.1140C>T (p.Ile380=) c.1125C>T (p.Ile375=) n.748C>T n.279C>T c.300C>T (p.Ile100=) c.279C>T (p.Ile93=) c.1137C>T (p.Ile379=) c.1113C>T (p.Ile371=) c.1122C>T (p.Ile374=) c.1098C>T (p.Ile366=) c.1110C>T (p.Ile370=) | |
1 | g.16997075G>C | CA338255045 | ATP13A2 | c.1140C>G (p.Ile380Met) c.1125C>G (p.Ile375Met) n.748C>G n.279C>G c.300C>G (p.Ile100Met) c.279C>G (p.Ile93Met) c.1137C>G (p.Ile379Met) c.1113C>G (p.Ile371Met) c.1122C>G (p.Ile374Met) c.1098C>G (p.Ile366Met) c.1110C>G (p.Ile370Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997075G= | CA1156032709 | ATP13A2 | c.1140C= (p.Ile380=) c.1125C= (p.Ile375=) n.748C= n.279C= c.300C= (p.Ile100=) c.279C= (p.Ile93=) c.1137C= (p.Ile379=) c.1113C= (p.Ile371=) c.1122C= (p.Ile374=) c.1098C= (p.Ile366=) c.1110C= (p.Ile370=) | |
1 | g.16997075G>T | CA416063157 | ATP13A2 | c.1140C>A (p.Ile380=) c.1125C>A (p.Ile375=) n.748C>A n.279C>A c.300C>A (p.Ile100=) c.279C>A (p.Ile93=) c.1137C>A (p.Ile379=) c.1113C>A (p.Ile371=) c.1122C>A (p.Ile374=) c.1098C>A (p.Ile366=) c.1110C>A (p.Ile370=) | |
1 | g.16997076A>C | CA338255046 | ATP13A2 | c.1139T>G (p.Ile380Ser) c.1124T>G (p.Ile375Ser) n.747T>G n.278T>G c.299T>G (p.Ile100Ser) c.278T>G (p.Ile93Ser) c.1136T>G (p.Ile379Ser) c.1112T>G (p.Ile371Ser) c.1121T>G (p.Ile374Ser) c.1097T>G (p.Ile366Ser) c.1109T>G (p.Ile370Ser) | |
1 | g.16997076A>G | CA338255047 | ATP13A2 | c.1139T>C (p.Ile380Thr) c.1124T>C (p.Ile375Thr) n.747T>C n.278T>C c.299T>C (p.Ile100Thr) c.278T>C (p.Ile93Thr) c.1136T>C (p.Ile379Thr) c.1112T>C (p.Ile371Thr) c.1121T>C (p.Ile374Thr) c.1097T>C (p.Ile366Thr) c.1109T>C (p.Ile370Thr) | |
1 | g.16997076A>T | CA338255048 | ATP13A2 | c.1139T>A (p.Ile380Asn) c.1124T>A (p.Ile375Asn) n.747T>A n.278T>A c.299T>A (p.Ile100Asn) c.278T>A (p.Ile93Asn) c.1136T>A (p.Ile379Asn) c.1112T>A (p.Ile371Asn) c.1121T>A (p.Ile374Asn) c.1097T>A (p.Ile366Asn) c.1109T>A (p.Ile370Asn) | |
1 | g.16997077T>A | CA338255049 | ATP13A2 | c.1138A>T (p.Ile380Phe) c.1123A>T (p.Ile375Phe) n.746A>T n.277A>T c.298A>T (p.Ile100Phe) c.277A>T (p.Ile93Phe) c.1135A>T (p.Ile379Phe) c.1111A>T (p.Ile371Phe) c.1120A>T (p.Ile374Phe) c.1096A>T (p.Ile366Phe) c.1108A>T (p.Ile370Phe) | |
1 | g.16997077T>C | CA338255050 | ATP13A2 | c.1138A>G (p.Ile380Val) c.1123A>G (p.Ile375Val) n.746A>G n.277A>G c.298A>G (p.Ile100Val) c.277A>G (p.Ile93Val) c.1135A>G (p.Ile379Val) c.1111A>G (p.Ile371Val) c.1120A>G (p.Ile374Val) c.1096A>G (p.Ile366Val) c.1108A>G (p.Ile370Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997077T>G | CA338255051 | ATP13A2 | c.1138A>C (p.Ile380Leu) c.1123A>C (p.Ile375Leu) n.746A>C n.277A>C c.298A>C (p.Ile100Leu) c.277A>C (p.Ile93Leu) c.1135A>C (p.Ile379Leu) c.1111A>C (p.Ile371Leu) c.1120A>C (p.Ile374Leu) c.1096A>C (p.Ile366Leu) c.1108A>C (p.Ile370Leu) | |
1 | g.16997077T= | CA1156032713 | ATP13A2 | c.1138A= (p.Ile380=) c.1123A= (p.Ile375=) n.746A= n.277A= c.298A= (p.Ile100=) c.277A= (p.Ile93=) c.1135A= (p.Ile379=) c.1111A= (p.Ile371=) c.1120A= (p.Ile374=) c.1096A= (p.Ile366=) c.1108A= (p.Ile370=) | |
1 | g.16997078G>A | CA18638324 | ATP13A2 | c.1137C>T (p.Leu379=) c.1122C>T (p.Leu374=) n.745C>T n.276C>T c.297C>T (p.Leu99=) c.276C>T (p.Leu92=) c.1134C>T (p.Leu378=) c.1110C>T (p.Leu370=) c.1119C>T (p.Leu373=) c.1095C>T (p.Leu365=) c.1107C>T (p.Leu369=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997078G>C | CA416063175 | ATP13A2 | c.1137C>G (p.Leu379=) c.1122C>G (p.Leu374=) n.745C>G n.276C>G c.297C>G (p.Leu99=) c.276C>G (p.Leu92=) c.1134C>G (p.Leu378=) c.1110C>G (p.Leu370=) c.1119C>G (p.Leu373=) c.1095C>G (p.Leu365=) c.1107C>G (p.Leu369=) | ClinVar dbSNP |
1 | g.16997078G= | CA1156032717 | ATP13A2 | c.1137C= (p.Leu379=) c.1122C= (p.Leu374=) n.745C= n.276C= c.297C= (p.Leu99=) c.276C= (p.Leu92=) c.1134C= (p.Leu378=) c.1110C= (p.Leu370=) c.1119C= (p.Leu373=) c.1095C= (p.Leu365=) c.1107C= (p.Leu369=) | |
1 | g.16997078G>T | CA416063172 | ATP13A2 | c.1137C>A (p.Leu379=) c.1122C>A (p.Leu374=) n.745C>A n.276C>A c.297C>A (p.Leu99=) c.276C>A (p.Leu92=) c.1134C>A (p.Leu378=) c.1110C>A (p.Leu370=) c.1119C>A (p.Leu373=) c.1095C>A (p.Leu365=) c.1107C>A (p.Leu369=) | |
1 | g.16997079A= | CA1156032722 | ATP13A2 | c.1136T= (p.Leu379=) c.1121T= (p.Leu374=) n.744T= n.275T= c.296T= (p.Leu99=) c.275T= (p.Leu92=) c.1133T= (p.Leu378=) c.1109T= (p.Leu370=) c.1118T= (p.Leu373=) c.1094T= (p.Leu365=) c.1106T= (p.Leu369=) | |
1 | g.16997079A>C | CA338255053 | ATP13A2 | c.1136T>G (p.Leu379Arg) c.1121T>G (p.Leu374Arg) n.744T>G n.275T>G c.296T>G (p.Leu99Arg) c.275T>G (p.Leu92Arg) c.1133T>G (p.Leu378Arg) c.1109T>G (p.Leu370Arg) c.1118T>G (p.Leu373Arg) c.1094T>G (p.Leu365Arg) c.1106T>G (p.Leu369Arg) | gnomAD v4 |
1 | g.16997079A>G | CA338255055 | ATP13A2 | c.1136T>C (p.Leu379Pro) c.1121T>C (p.Leu374Pro) n.744T>C n.275T>C c.296T>C (p.Leu99Pro) c.275T>C (p.Leu92Pro) c.1133T>C (p.Leu378Pro) c.1109T>C (p.Leu370Pro) c.1118T>C (p.Leu373Pro) c.1094T>C (p.Leu365Pro) c.1106T>C (p.Leu369Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997079A>T | CA18638328 | ATP13A2 | c.1136T>A (p.Leu379His) c.1121T>A (p.Leu374His) n.744T>A n.275T>A c.296T>A (p.Leu99His) c.275T>A (p.Leu92His) c.1133T>A (p.Leu378His) c.1109T>A (p.Leu370His) c.1118T>A (p.Leu373His) c.1094T>A (p.Leu365His) c.1106T>A (p.Leu369His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997080G>A | CA338255056 | ATP13A2 | c.1135C>T (p.Leu379Phe) c.1120C>T (p.Leu374Phe) n.743C>T n.274C>T c.295C>T (p.Leu99Phe) c.274C>T (p.Leu92Phe) c.1132C>T (p.Leu378Phe) c.1108C>T (p.Leu370Phe) c.1117C>T (p.Leu373Phe) c.1093C>T (p.Leu365Phe) c.1105C>T (p.Leu369Phe) | |
1 | g.16997080G>C | CA338255058 | ATP13A2 | c.1135C>G (p.Leu379Val) c.1120C>G (p.Leu374Val) n.743C>G n.274C>G c.295C>G (p.Leu99Val) c.274C>G (p.Leu92Val) c.1132C>G (p.Leu378Val) c.1108C>G (p.Leu370Val) c.1117C>G (p.Leu373Val) c.1093C>G (p.Leu365Val) c.1105C>G (p.Leu369Val) | |
1 | g.16997080G= | CA1156032731 | ATP13A2 | c.1135C= (p.Leu379=) c.1120C= (p.Leu374=) n.743C= n.274C= c.295C= (p.Leu99=) c.274C= (p.Leu92=) c.1132C= (p.Leu378=) c.1108C= (p.Leu370=) c.1117C= (p.Leu373=) c.1093C= (p.Leu365=) c.1105C= (p.Leu369=) | |
1 | g.16997080G>T | CA18638339 | ATP13A2 | c.1135C>A (p.Leu379Ile) c.1120C>A (p.Leu374Ile) n.743C>A n.274C>A c.295C>A (p.Leu99Ile) c.274C>A (p.Leu92Ile) c.1132C>A (p.Leu378Ile) c.1108C>A (p.Leu370Ile) c.1117C>A (p.Leu373Ile) c.1093C>A (p.Leu365Ile) c.1105C>A (p.Leu369Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997081G>A | CA416063213 | ATP13A2 | c.1134C>T (p.Thr378=) c.1119C>T (p.Thr373=) n.742C>T n.273C>T c.294C>T (p.Thr98=) c.273C>T (p.Thr91=) c.1131C>T (p.Thr377=) c.1107C>T (p.Thr369=) c.1116C>T (p.Thr372=) c.1092C>T (p.Thr364=) c.1104C>T (p.Thr368=) | |
1 | g.16997081G>C | CA416063209 | ATP13A2 | c.1134C>G (p.Thr378=) c.1119C>G (p.Thr373=) n.742C>G n.273C>G c.294C>G (p.Thr98=) c.273C>G (p.Thr91=) c.1131C>G (p.Thr377=) c.1107C>G (p.Thr369=) c.1116C>G (p.Thr372=) c.1092C>G (p.Thr364=) c.1104C>G (p.Thr368=) | |
1 | g.16997081G= | CA1156032737 | ATP13A2 | c.1134C= (p.Thr378=) c.1119C= (p.Thr373=) n.742C= n.273C= c.294C= (p.Thr98=) c.273C= (p.Thr91=) c.1131C= (p.Thr377=) c.1107C= (p.Thr369=) c.1116C= (p.Thr372=) c.1092C= (p.Thr364=) c.1104C= (p.Thr368=) | |
1 | g.16997081G>T | CA416063206 | ATP13A2 | c.1134C>A (p.Thr378=) c.1119C>A (p.Thr373=) n.742C>A n.273C>A c.294C>A (p.Thr98=) c.273C>A (p.Thr91=) c.1131C>A (p.Thr377=) c.1107C>A (p.Thr369=) c.1116C>A (p.Thr372=) c.1092C>A (p.Thr364=) c.1104C>A (p.Thr368=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16997082G>A | CA338255060 | ATP13A2 | c.1133C>T (p.Thr378Ile) c.1118C>T (p.Thr373Ile) n.741C>T n.272C>T c.293C>T (p.Thr98Ile) c.272C>T (p.Thr91Ile) c.1130C>T (p.Thr377Ile) c.1106C>T (p.Thr369Ile) c.1115C>T (p.Thr372Ile) c.1091C>T (p.Thr364Ile) c.1103C>T (p.Thr368Ile) | |
1 | g.16997082G>C | CA338255062 | ATP13A2 | c.1133C>G (p.Thr378Ser) c.1118C>G (p.Thr373Ser) n.741C>G n.272C>G c.293C>G (p.Thr98Ser) c.272C>G (p.Thr91Ser) c.1130C>G (p.Thr377Ser) c.1106C>G (p.Thr369Ser) c.1115C>G (p.Thr372Ser) c.1091C>G (p.Thr364Ser) c.1103C>G (p.Thr368Ser) | |
1 | g.16997082G>T | CA338255063 | ATP13A2 | c.1133C>A (p.Thr378Asn) c.1118C>A (p.Thr373Asn) n.741C>A n.272C>A c.293C>A (p.Thr98Asn) c.272C>A (p.Thr91Asn) c.1130C>A (p.Thr377Asn) c.1106C>A (p.Thr369Asn) c.1115C>A (p.Thr372Asn) c.1091C>A (p.Thr364Asn) c.1103C>A (p.Thr368Asn) | |
1 | g.16997083T>A | CA338255065 | ATP13A2 | c.1132A>T (p.Thr378Ser) c.1117A>T (p.Thr373Ser) n.740A>T n.271A>T c.292A>T (p.Thr98Ser) c.271A>T (p.Thr91Ser) c.1129A>T (p.Thr377Ser) c.1105A>T (p.Thr369Ser) c.1114A>T (p.Thr372Ser) c.1090A>T (p.Thr364Ser) c.1102A>T (p.Thr368Ser) | |
1 | g.16997083T>C | CA338255066 | ATP13A2 | c.1132A>G (p.Thr378Ala) c.1117A>G (p.Thr373Ala) n.740A>G n.271A>G c.292A>G (p.Thr98Ala) c.271A>G (p.Thr91Ala) c.1129A>G (p.Thr377Ala) c.1105A>G (p.Thr369Ala) c.1114A>G (p.Thr372Ala) c.1090A>G (p.Thr364Ala) c.1102A>G (p.Thr368Ala) | |
1 | g.16997083T>G | CA338255068 | ATP13A2 | c.1132A>C (p.Thr378Pro) c.1117A>C (p.Thr373Pro) n.740A>C n.271A>C c.292A>C (p.Thr98Pro) c.271A>C (p.Thr91Pro) c.1129A>C (p.Thr377Pro) c.1105A>C (p.Thr369Pro) c.1114A>C (p.Thr372Pro) c.1090A>C (p.Thr364Pro) c.1102A>C (p.Thr368Pro) | |
1 | g.16997084C>A | CA416063251 | ATP13A2 | c.1131G>T (p.Gly377=) c.1116G>T (p.Gly372=) n.739G>T n.270G>T c.291G>T (p.Gly97=) c.270G>T (p.Gly90=) c.1128G>T (p.Gly376=) c.1104G>T (p.Gly368=) c.1113G>T (p.Gly371=) c.1089G>T (p.Gly363=) c.1101G>T (p.Gly367=) | COSMIC COSMIC |
1 | g.16997084C= | CA1147601801 | ATP13A2 | c.1131G= (p.Gly377=) c.1116G= (p.Gly372=) n.739G= n.270G= c.291G= (p.Gly97=) c.270G= (p.Gly90=) c.1128G= (p.Gly376=) c.1104G= (p.Gly368=) c.1113G= (p.Gly371=) c.1089G= (p.Gly363=) c.1101G= (p.Gly367=) | |
1 | g.16997084C>G | CA416063259 | ATP13A2 | c.1131G>C (p.Gly377=) c.1116G>C (p.Gly372=) n.739G>C n.270G>C c.291G>C (p.Gly97=) c.270G>C (p.Gly90=) c.1128G>C (p.Gly376=) c.1104G>C (p.Gly368=) c.1113G>C (p.Gly371=) c.1089G>C (p.Gly363=) c.1101G>C (p.Gly367=) | |
1 | g.16997084C>T | CA637356 | ATP13A2 | c.1131G>A (p.Gly377=) c.1116G>A (p.Gly372=) n.739G>A n.270G>A c.291G>A (p.Gly97=) c.270G>A (p.Gly90=) c.1128G>A (p.Gly376=) c.1104G>A (p.Gly368=) c.1113G>A (p.Gly371=) c.1089G>A (p.Gly363=) c.1101G>A (p.Gly367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997085C>A | CA338255073 | ATP13A2 | c.1130G>T (p.Gly377Val) c.1115G>T (p.Gly372Val) n.738G>T n.269G>T c.290G>T (p.Gly97Val) c.269G>T (p.Gly90Val) c.1127G>T (p.Gly376Val) c.1103G>T (p.Gly368Val) c.1112G>T (p.Gly371Val) c.1088G>T (p.Gly363Val) c.1100G>T (p.Gly367Val) | |
1 | g.16997085C>G | CA338255071 | ATP13A2 | c.1130G>C (p.Gly377Ala) c.1115G>C (p.Gly372Ala) n.738G>C n.269G>C c.290G>C (p.Gly97Ala) c.269G>C (p.Gly90Ala) c.1127G>C (p.Gly376Ala) c.1103G>C (p.Gly368Ala) c.1112G>C (p.Gly371Ala) c.1088G>C (p.Gly363Ala) c.1100G>C (p.Gly367Ala) | |
1 | g.16997085C>T | CA338255070 | ATP13A2 | c.1130G>A (p.Gly377Glu) c.1115G>A (p.Gly372Glu) n.738G>A n.269G>A c.290G>A (p.Gly97Glu) c.269G>A (p.Gly90Glu) c.1127G>A (p.Gly376Glu) c.1103G>A (p.Gly368Glu) c.1112G>A (p.Gly371Glu) c.1088G>A (p.Gly363Glu) c.1100G>A (p.Gly367Glu) | gnomAD v4 |
1 | g.16997086C>A | CA338255077 | ATP13A2 | c.1129G>T (p.Gly377Trp) c.1114G>T (p.Gly372Trp) n.737G>T n.268G>T c.289G>T (p.Gly97Trp) c.268G>T (p.Gly90Trp) c.1126G>T (p.Gly376Trp) c.1102G>T (p.Gly368Trp) c.1111G>T (p.Gly371Trp) c.1087G>T (p.Gly363Trp) c.1099G>T (p.Gly367Trp) | |
1 | g.16997086C= | CA1156032747 | ATP13A2 | c.1129G= (p.Gly377=) c.1114G= (p.Gly372=) n.737G= n.268G= c.289G= (p.Gly97=) c.268G= (p.Gly90=) c.1126G= (p.Gly376=) c.1102G= (p.Gly368=) c.1111G= (p.Gly371=) c.1087G= (p.Gly363=) c.1099G= (p.Gly367=) | |
1 | g.16997086C>G | CA338255080 | ATP13A2 | c.1129G>C (p.Gly377Arg) c.1114G>C (p.Gly372Arg) n.737G>C n.268G>C c.289G>C (p.Gly97Arg) c.268G>C (p.Gly90Arg) c.1126G>C (p.Gly376Arg) c.1102G>C (p.Gly368Arg) c.1111G>C (p.Gly371Arg) c.1087G>C (p.Gly363Arg) c.1099G>C (p.Gly367Arg) | |
1 | g.16997086C>T | CA18638345 | ATP13A2 | c.1129G>A (p.Gly377Arg) c.1114G>A (p.Gly372Arg) n.737G>A n.268G>A c.289G>A (p.Gly97Arg) c.268G>A (p.Gly90Arg) c.1126G>A (p.Gly376Arg) c.1102G>A (p.Gly368Arg) c.1111G>A (p.Gly371Arg) c.1087G>A (p.Gly363Arg) c.1099G>A (p.Gly367Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997087G>A | CA637357 | ATP13A2 | c.1128C>T (p.Cys376=) c.1113C>T (p.Cys371=) n.736C>T n.267C>T c.288C>T (p.Cys96=) c.267C>T (p.Cys89=) c.1125C>T (p.Cys375=) c.1101C>T (p.Cys367=) c.1110C>T (p.Cys370=) c.1086C>T (p.Cys362=) c.1098C>T (p.Cys366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997087G>C | CA338255083 | ATP13A2 | c.1128C>G (p.Cys376Trp) c.1113C>G (p.Cys371Trp) n.736C>G n.267C>G c.288C>G (p.Cys96Trp) c.267C>G (p.Cys89Trp) c.1125C>G (p.Cys375Trp) c.1101C>G (p.Cys367Trp) c.1110C>G (p.Cys370Trp) c.1086C>G (p.Cys362Trp) c.1098C>G (p.Cys366Trp) | |
1 | g.16997087G= | CA1142273553 | ATP13A2 | c.1128C= (p.Cys376=) c.1113C= (p.Cys371=) n.736C= n.267C= c.288C= (p.Cys96=) c.267C= (p.Cys89=) c.1125C= (p.Cys375=) c.1101C= (p.Cys367=) c.1110C= (p.Cys370=) c.1086C= (p.Cys362=) c.1098C= (p.Cys366=) | |
1 | g.16997087G>T | CA338255081 | ATP13A2 | c.1128C>A (p.Cys376Ter) c.1113C>A (p.Cys371Ter) n.736C>A n.267C>A c.288C>A (p.Cys96Ter) c.267C>A (p.Cys89Ter) c.1125C>A (p.Cys375Ter) c.1101C>A (p.Cys367Ter) c.1110C>A (p.Cys370Ter) c.1086C>A (p.Cys362Ter) c.1098C>A (p.Cys366Ter) | |
1 | g.16997088C>A | CA338255085 | ATP13A2 | c.1127G>T (p.Cys376Phe) c.1112G>T (p.Cys371Phe) n.735G>T n.266G>T c.287G>T (p.Cys96Phe) c.266G>T (p.Cys89Phe) c.1124G>T (p.Cys375Phe) c.1100G>T (p.Cys367Phe) c.1109G>T (p.Cys370Phe) c.1085G>T (p.Cys362Phe) c.1097G>T (p.Cys366Phe) | |
1 | g.16997088C>G | CA338255087 | ATP13A2 | c.1127G>C (p.Cys376Ser) c.1112G>C (p.Cys371Ser) n.735G>C n.266G>C c.287G>C (p.Cys96Ser) c.266G>C (p.Cys89Ser) c.1124G>C (p.Cys375Ser) c.1100G>C (p.Cys367Ser) c.1109G>C (p.Cys370Ser) c.1085G>C (p.Cys362Ser) c.1097G>C (p.Cys366Ser) | |
1 | g.16997088C>T | CA338255086 | ATP13A2 | c.1127G>A (p.Cys376Tyr) c.1112G>A (p.Cys371Tyr) n.735G>A n.266G>A c.287G>A (p.Cys96Tyr) c.266G>A (p.Cys89Tyr) c.1124G>A (p.Cys375Tyr) c.1100G>A (p.Cys367Tyr) c.1109G>A (p.Cys370Tyr) c.1085G>A (p.Cys362Tyr) c.1097G>A (p.Cys366Tyr) | gnomAD v4 |
1 | g.16997089A= | CA1156032757 | ATP13A2 | c.1126T= (p.Cys376=) c.1111T= (p.Cys371=) n.734T= n.265T= c.286T= (p.Cys96=) c.265T= (p.Cys89=) c.1123T= (p.Cys375=) c.1099T= (p.Cys367=) c.1108T= (p.Cys370=) c.1084T= (p.Cys362=) c.1096T= (p.Cys366=) | |
1 | g.16997089A>C | CA338255089 | ATP13A2 | c.1126T>G (p.Cys376Gly) c.1111T>G (p.Cys371Gly) n.734T>G n.265T>G c.286T>G (p.Cys96Gly) c.265T>G (p.Cys89Gly) c.1123T>G (p.Cys375Gly) c.1099T>G (p.Cys367Gly) c.1108T>G (p.Cys370Gly) c.1084T>G (p.Cys362Gly) c.1096T>G (p.Cys366Gly) | |
1 | g.16997089A>G | CA338255090 | ATP13A2 | c.1126T>C (p.Cys376Arg) c.1111T>C (p.Cys371Arg) n.734T>C n.265T>C c.286T>C (p.Cys96Arg) c.265T>C (p.Cys89Arg) c.1123T>C (p.Cys375Arg) c.1099T>C (p.Cys367Arg) c.1108T>C (p.Cys370Arg) c.1084T>C (p.Cys362Arg) c.1096T>C (p.Cys366Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.16997089A>T | CA338255091 | ATP13A2 | c.1126T>A (p.Cys376Ser) c.1111T>A (p.Cys371Ser) n.734T>A n.265T>A c.286T>A (p.Cys96Ser) c.265T>A (p.Cys89Ser) c.1123T>A (p.Cys375Ser) c.1099T>A (p.Cys367Ser) c.1108T>A (p.Cys370Ser) c.1084T>A (p.Cys362Ser) c.1096T>A (p.Cys366Ser) | |
1 | g.16997090G>A | CA637358 | ATP13A2 | c.1125C>T (p.Phe375=) c.1110C>T (p.Phe370=) n.733C>T n.264C>T c.285C>T (p.Phe95=) c.264C>T (p.Phe88=) c.1122C>T (p.Phe374=) c.1098C>T (p.Phe366=) c.1107C>T (p.Phe369=) c.1083C>T (p.Phe361=) c.1095C>T (p.Phe365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997090G>C | CA338255094 | ATP13A2 | c.1125C>G (p.Phe375Leu) c.1110C>G (p.Phe370Leu) n.733C>G n.264C>G c.285C>G (p.Phe95Leu) c.264C>G (p.Phe88Leu) c.1122C>G (p.Phe374Leu) c.1098C>G (p.Phe366Leu) c.1107C>G (p.Phe369Leu) c.1083C>G (p.Phe361Leu) c.1095C>G (p.Phe365Leu) | |
1 | g.16997090G= | CA1143450656 | ATP13A2 | c.1125C= (p.Phe375=) c.1110C= (p.Phe370=) n.733C= n.264C= c.285C= (p.Phe95=) c.264C= (p.Phe88=) c.1122C= (p.Phe374=) c.1098C= (p.Phe366=) c.1107C= (p.Phe369=) c.1083C= (p.Phe361=) c.1095C= (p.Phe365=) | |
1 | g.16997090G>T | CA338255096 | ATP13A2 | c.1125C>A (p.Phe375Leu) c.1110C>A (p.Phe370Leu) n.733C>A n.264C>A c.285C>A (p.Phe95Leu) c.264C>A (p.Phe88Leu) c.1122C>A (p.Phe374Leu) c.1098C>A (p.Phe366Leu) c.1107C>A (p.Phe369Leu) c.1083C>A (p.Phe361Leu) c.1095C>A (p.Phe365Leu) | |
1 | g.16997091A>C | CA338255098 | ATP13A2 | c.1124T>G (p.Phe375Cys) c.1109T>G (p.Phe370Cys) n.732T>G n.263T>G c.284T>G (p.Phe95Cys) c.263T>G (p.Phe88Cys) c.1121T>G (p.Phe374Cys) c.1097T>G (p.Phe366Cys) c.1106T>G (p.Phe369Cys) c.1082T>G (p.Phe361Cys) c.1094T>G (p.Phe365Cys) | |
1 | g.16997091A>G | CA338255099 | ATP13A2 | c.1124T>C (p.Phe375Ser) c.1109T>C (p.Phe370Ser) n.732T>C n.263T>C c.284T>C (p.Phe95Ser) c.263T>C (p.Phe88Ser) c.1121T>C (p.Phe374Ser) c.1097T>C (p.Phe366Ser) c.1106T>C (p.Phe369Ser) c.1082T>C (p.Phe361Ser) c.1094T>C (p.Phe365Ser) | gnomAD v4 |
1 | g.16997091A>T | CA338255101 | ATP13A2 | c.1124T>A (p.Phe375Tyr) c.1109T>A (p.Phe370Tyr) n.732T>A n.263T>A c.284T>A (p.Phe95Tyr) c.263T>A (p.Phe88Tyr) c.1121T>A (p.Phe374Tyr) c.1097T>A (p.Phe366Tyr) c.1106T>A (p.Phe369Tyr) c.1082T>A (p.Phe361Tyr) c.1094T>A (p.Phe365Tyr) | |
1 | g.16997092A>C | CA338255102 | ATP13A2 | c.1123T>G (p.Phe375Val) c.1108T>G (p.Phe370Val) n.731T>G n.262T>G c.283T>G (p.Phe95Val) c.262T>G (p.Phe88Val) c.1120T>G (p.Phe374Val) c.1096T>G (p.Phe366Val) c.1105T>G (p.Phe369Val) c.1081T>G (p.Phe361Val) c.1093T>G (p.Phe365Val) | |
1 | g.16997092A>G | CA338255103 | ATP13A2 | c.1123T>C (p.Phe375Leu) c.1108T>C (p.Phe370Leu) n.731T>C n.262T>C c.283T>C (p.Phe95Leu) c.262T>C (p.Phe88Leu) c.1120T>C (p.Phe374Leu) c.1096T>C (p.Phe366Leu) c.1105T>C (p.Phe369Leu) c.1081T>C (p.Phe361Leu) c.1093T>C (p.Phe365Leu) | |
1 | g.16997092A>T | CA338255104 | ATP13A2 | c.1123T>A (p.Phe375Ile) c.1108T>A (p.Phe370Ile) n.731T>A n.262T>A c.283T>A (p.Phe95Ile) c.262T>A (p.Phe88Ile) c.1120T>A (p.Phe374Ile) c.1096T>A (p.Phe366Ile) c.1105T>A (p.Phe369Ile) c.1081T>A (p.Phe361Ile) c.1093T>A (p.Phe365Ile) | |
1 | g.16997093G>A | CA416063318 | ATP13A2 | c.1122C>T (p.Leu374=) c.1107C>T (p.Leu369=) n.730C>T n.261C>T c.282C>T (p.Leu94=) c.261C>T (p.Leu87=) c.1119C>T (p.Leu373=) c.1095C>T (p.Leu365=) c.1104C>T (p.Leu368=) c.1080C>T (p.Leu360=) c.1092C>T (p.Leu364=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997093G>C | CA637359 | ATP13A2 | c.1122C>G (p.Leu374=) c.1107C>G (p.Leu369=) n.730C>G n.261C>G c.282C>G (p.Leu94=) c.261C>G (p.Leu87=) c.1119C>G (p.Leu373=) c.1095C>G (p.Leu365=) c.1104C>G (p.Leu368=) c.1080C>G (p.Leu360=) c.1092C>G (p.Leu364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997093G= | CA1141896227 | ATP13A2 | c.1122C= (p.Leu374=) c.1107C= (p.Leu369=) n.730C= n.261C= c.282C= (p.Leu94=) c.261C= (p.Leu87=) c.1119C= (p.Leu373=) c.1095C= (p.Leu365=) c.1104C= (p.Leu368=) c.1080C= (p.Leu360=) c.1092C= (p.Leu364=) | |
1 | g.16997093G>T | CA416063321 | ATP13A2 | c.1122C>A (p.Leu374=) c.1107C>A (p.Leu369=) n.730C>A n.261C>A c.282C>A (p.Leu94=) c.261C>A (p.Leu87=) c.1119C>A (p.Leu373=) c.1095C>A (p.Leu365=) c.1104C>A (p.Leu368=) c.1080C>A (p.Leu360=) c.1092C>A (p.Leu364=) | |
1 | g.16997094A= | CA1156032769 | ATP13A2 | c.1121T= (p.Leu374=) c.1106T= (p.Leu369=) n.729T= n.260T= c.281T= (p.Leu94=) c.260T= (p.Leu87=) c.1118T= (p.Leu373=) c.1094T= (p.Leu365=) c.1103T= (p.Leu368=) c.1079T= (p.Leu360=) c.1091T= (p.Leu364=) | |
1 | g.16997094A>C | CA338255108 | ATP13A2 | c.1121T>G (p.Leu374Arg) c.1106T>G (p.Leu369Arg) n.729T>G n.260T>G c.281T>G (p.Leu94Arg) c.260T>G (p.Leu87Arg) c.1118T>G (p.Leu373Arg) c.1094T>G (p.Leu365Arg) c.1103T>G (p.Leu368Arg) c.1079T>G (p.Leu360Arg) c.1091T>G (p.Leu364Arg) | |
1 | g.16997094A>G | CA338255111 | ATP13A2 | c.1121T>C (p.Leu374Pro) c.1106T>C (p.Leu369Pro) n.729T>C n.260T>C c.281T>C (p.Leu94Pro) c.260T>C (p.Leu87Pro) c.1118T>C (p.Leu373Pro) c.1094T>C (p.Leu365Pro) c.1103T>C (p.Leu368Pro) c.1079T>C (p.Leu360Pro) c.1091T>C (p.Leu364Pro) | |
1 | g.16997094A>T | CA338255109 | ATP13A2 | c.1121T>A (p.Leu374His) c.1106T>A (p.Leu369His) n.729T>A n.260T>A c.281T>A (p.Leu94His) c.260T>A (p.Leu87His) c.1118T>A (p.Leu373His) c.1094T>A (p.Leu365His) c.1103T>A (p.Leu368His) c.1079T>A (p.Leu360His) c.1091T>A (p.Leu364His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997094_16997107delinsAGTGTGTGCCGCCG | CA1156032771 | ATP13A2 | c.1108_1121delinsCGGCGGCACACACT (p.Arg370=) c.1093_1106delinsCGGCGGCACACACT (p.Arg365=) n.716_729delinsCGGCGGCACACACT n.247_260delinsCGGCGGCACACACT c.268_281delinsCGGCGGCACACACT (p.Arg90=) c.247_260delinsCGGCGGCACACACT (p.Arg83=) c.1105_1118delinsCGGCGGCACACACT (p.Arg369=) c.1081_1094delinsCGGCGGCACACACT (p.Arg361=) c.1090_1103delinsCGGCGGCACACACT (p.Arg364=) c.1066_1079delinsCGGCGGCACACACT (p.Arg356=) c.1078_1091delinsCGGCGGCACACACT (p.Arg360=) | |
1 | g.16997095G>A | CA338255113 | ATP13A2 | c.1120C>T (p.Leu374Phe) c.1105C>T (p.Leu369Phe) n.728C>T n.259C>T c.280C>T (p.Leu94Phe) c.259C>T (p.Leu87Phe) c.1117C>T (p.Leu373Phe) c.1093C>T (p.Leu365Phe) c.1102C>T (p.Leu368Phe) c.1078C>T (p.Leu360Phe) c.1090C>T (p.Leu364Phe) | |
1 | g.16997095G>C | CA338255114 | ATP13A2 | c.1120C>G (p.Leu374Val) c.1105C>G (p.Leu369Val) n.728C>G n.259C>G c.280C>G (p.Leu94Val) c.259C>G (p.Leu87Val) c.1117C>G (p.Leu373Val) c.1093C>G (p.Leu365Val) c.1102C>G (p.Leu368Val) c.1078C>G (p.Leu360Val) c.1090C>G (p.Leu364Val) | gnomAD v4 |
1 | g.16997095G>T | CA338255116 | ATP13A2 | c.1120C>A (p.Leu374Ile) c.1105C>A (p.Leu369Ile) n.728C>A n.259C>A c.280C>A (p.Leu94Ile) c.259C>A (p.Leu87Ile) c.1117C>A (p.Leu373Ile) c.1093C>A (p.Leu365Ile) c.1102C>A (p.Leu368Ile) c.1078C>A (p.Leu360Ile) c.1090C>A (p.Leu364Ile) | ClinVar |
1 | g.16997101_16997113del | CA1156032776 | ATP13A2 | c.1108_1120del (p.Arg370SerfsTer22) c.1093_1105del (p.Arg365SerfsTer22) n.716_728del n.247_259del c.268_280del (p.Arg90SerfsTer22) c.247_259del (p.Arg83SerfsTer22) c.1105_1117del (p.Arg369SerfsTer22) c.1081_1093del (p.Arg361SerfsTer22) c.1090_1102del (p.Arg364SerfsTer22) c.1066_1078del (p.Arg356SerfsTer22) c.1078_1090del (p.Arg360SerfsTer22) | dbSNP gnomAD v4 |
1 | g.16997096T>A | CA416063347 | ATP13A2 | c.1119A>T (p.Thr373=) c.1104A>T (p.Thr368=) n.727A>T n.258A>T c.279A>T (p.Thr93=) c.258A>T (p.Thr86=) c.1116A>T (p.Thr372=) c.1092A>T (p.Thr364=) c.1101A>T (p.Thr367=) c.1077A>T (p.Thr359=) c.1089A>T (p.Thr363=) | |
1 | g.16997096T>C | CA637360 | ATP13A2 | c.1119A>G (p.Thr373=) c.1104A>G (p.Thr368=) n.727A>G n.258A>G c.279A>G (p.Thr93=) c.258A>G (p.Thr86=) c.1116A>G (p.Thr372=) c.1092A>G (p.Thr364=) c.1101A>G (p.Thr367=) c.1077A>G (p.Thr359=) c.1089A>G (p.Thr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997096T>G | CA416063348 | ATP13A2 | c.1119A>C (p.Thr373=) c.1104A>C (p.Thr368=) n.727A>C n.258A>C c.279A>C (p.Thr93=) c.258A>C (p.Thr86=) c.1116A>C (p.Thr372=) c.1092A>C (p.Thr364=) c.1101A>C (p.Thr367=) c.1077A>C (p.Thr359=) c.1089A>C (p.Thr363=) | |
1 | g.16997096T= | CA1156032782 | ATP13A2 | c.1119A= (p.Thr373=) c.1104A= (p.Thr368=) n.727A= n.258A= c.279A= (p.Thr93=) c.258A= (p.Thr86=) c.1116A= (p.Thr372=) c.1092A= (p.Thr364=) c.1101A= (p.Thr367=) c.1077A= (p.Thr359=) c.1089A= (p.Thr363=) | |
1 | g.16997097G>A | CA637361 | ATP13A2 | c.1118C>T (p.Thr373Ile) c.1103C>T (p.Thr368Ile) n.726C>T n.257C>T c.278C>T (p.Thr93Ile) c.257C>T (p.Thr86Ile) c.1115C>T (p.Thr372Ile) c.1091C>T (p.Thr364Ile) c.1100C>T (p.Thr367Ile) c.1076C>T (p.Thr359Ile) c.1088C>T (p.Thr363Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997097G>C | CA338255123 | ATP13A2 | c.1118C>G (p.Thr373Arg) c.1103C>G (p.Thr368Arg) n.726C>G n.257C>G c.278C>G (p.Thr93Arg) c.257C>G (p.Thr86Arg) c.1115C>G (p.Thr372Arg) c.1091C>G (p.Thr364Arg) c.1100C>G (p.Thr367Arg) c.1076C>G (p.Thr359Arg) c.1088C>G (p.Thr363Arg) | |
1 | g.16997097G= | CA1156032786 | ATP13A2 | c.1118C= (p.Thr373=) c.1103C= (p.Thr368=) n.726C= n.257C= c.278C= (p.Thr93=) c.257C= (p.Thr86=) c.1115C= (p.Thr372=) c.1091C= (p.Thr364=) c.1100C= (p.Thr367=) c.1076C= (p.Thr359=) c.1088C= (p.Thr363=) | |
1 | g.16997097G>T | CA338255125 | ATP13A2 | c.1118C>A (p.Thr373Lys) c.1103C>A (p.Thr368Lys) n.726C>A n.257C>A c.278C>A (p.Thr93Lys) c.257C>A (p.Thr86Lys) c.1115C>A (p.Thr372Lys) c.1091C>A (p.Thr364Lys) c.1100C>A (p.Thr367Lys) c.1076C>A (p.Thr359Lys) c.1088C>A (p.Thr363Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997098T>A | CA338255127 | ATP13A2 | c.1117A>T (p.Thr373Ser) c.1102A>T (p.Thr368Ser) n.725A>T n.256A>T c.277A>T (p.Thr93Ser) c.256A>T (p.Thr86Ser) c.1114A>T (p.Thr372Ser) c.1090A>T (p.Thr364Ser) c.1099A>T (p.Thr367Ser) c.1075A>T (p.Thr359Ser) c.1087A>T (p.Thr363Ser) | |
1 | g.16997098T>C | CA338255128 | ATP13A2 | c.1117A>G (p.Thr373Ala) c.1102A>G (p.Thr368Ala) n.725A>G n.256A>G c.277A>G (p.Thr93Ala) c.256A>G (p.Thr86Ala) c.1114A>G (p.Thr372Ala) c.1090A>G (p.Thr364Ala) c.1099A>G (p.Thr367Ala) c.1075A>G (p.Thr359Ala) c.1087A>G (p.Thr363Ala) | |
1 | g.16997098T>G | CA338255129 | ATP13A2 | c.1117A>C (p.Thr373Pro) c.1102A>C (p.Thr368Pro) n.725A>C n.256A>C c.277A>C (p.Thr93Pro) c.256A>C (p.Thr86Pro) c.1114A>C (p.Thr372Pro) c.1090A>C (p.Thr364Pro) c.1099A>C (p.Thr367Pro) c.1075A>C (p.Thr359Pro) c.1087A>C (p.Thr363Pro) | |
1 | g.16997099G>A | CA416063379 | ATP13A2 | c.1116C>T (p.His372=) c.1101C>T (p.His367=) n.724C>T n.255C>T c.276C>T (p.His92=) c.255C>T (p.His85=) c.1113C>T (p.His371=) c.1089C>T (p.His363=) c.1098C>T (p.His366=) c.1074C>T (p.His358=) c.1086C>T (p.His362=) | |
1 | g.16997099G>C | CA338255130 | ATP13A2 | c.1116C>G (p.His372Gln) c.1101C>G (p.His367Gln) n.724C>G n.255C>G c.276C>G (p.His92Gln) c.255C>G (p.His85Gln) c.1113C>G (p.His371Gln) c.1089C>G (p.His363Gln) c.1098C>G (p.His366Gln) c.1074C>G (p.His358Gln) c.1086C>G (p.His362Gln) | |
1 | g.16997099G>T | CA338255132 | ATP13A2 | c.1116C>A (p.His372Gln) c.1101C>A (p.His367Gln) n.724C>A n.255C>A c.276C>A (p.His92Gln) c.255C>A (p.His85Gln) c.1113C>A (p.His371Gln) c.1089C>A (p.His363Gln) c.1098C>A (p.His366Gln) c.1074C>A (p.His358Gln) c.1086C>A (p.His362Gln) | |
1 | g.16997100T>A | CA338255133 | ATP13A2 | c.1115A>T (p.His372Leu) c.1100A>T (p.His367Leu) n.723A>T n.254A>T c.275A>T (p.His92Leu) c.254A>T (p.His85Leu) c.1112A>T (p.His371Leu) c.1088A>T (p.His363Leu) c.1097A>T (p.His366Leu) c.1073A>T (p.His358Leu) c.1085A>T (p.His362Leu) | gnomAD v4 |
1 | g.16997100T>C | CA338255134 | ATP13A2 | c.1115A>G (p.His372Arg) c.1100A>G (p.His367Arg) n.723A>G n.254A>G c.275A>G (p.His92Arg) c.254A>G (p.His85Arg) c.1112A>G (p.His371Arg) c.1088A>G (p.His363Arg) c.1097A>G (p.His366Arg) c.1073A>G (p.His358Arg) c.1085A>G (p.His362Arg) | gnomAD v4 |
1 | g.16997100T>G | CA338255136 | ATP13A2 | c.1115A>C (p.His372Pro) c.1100A>C (p.His367Pro) n.723A>C n.254A>C c.275A>C (p.His92Pro) c.254A>C (p.His85Pro) c.1112A>C (p.His371Pro) c.1088A>C (p.His363Pro) c.1097A>C (p.His366Pro) c.1073A>C (p.His358Pro) c.1085A>C (p.His362Pro) | |
1 | g.16997101G>A | CA338255137 | ATP13A2 | c.1114C>T (p.His372Tyr) c.1099C>T (p.His367Tyr) n.722C>T n.253C>T c.274C>T (p.His92Tyr) c.253C>T (p.His85Tyr) c.1111C>T (p.His371Tyr) c.1087C>T (p.His363Tyr) c.1096C>T (p.His366Tyr) c.1072C>T (p.His358Tyr) c.1084C>T (p.His362Tyr) | gnomAD v4 |
1 | g.16997101G>C | CA338255139 | ATP13A2 | c.1114C>G (p.His372Asp) c.1099C>G (p.His367Asp) n.722C>G n.253C>G c.274C>G (p.His92Asp) c.253C>G (p.His85Asp) c.1111C>G (p.His371Asp) c.1087C>G (p.His363Asp) c.1096C>G (p.His366Asp) c.1072C>G (p.His358Asp) c.1084C>G (p.His362Asp) | |
1 | g.16997101G>T | CA338255140 | ATP13A2 | c.1114C>A (p.His372Asn) c.1099C>A (p.His367Asn) n.722C>A n.253C>A c.274C>A (p.His92Asn) c.253C>A (p.His85Asn) c.1111C>A (p.His371Asn) c.1087C>A (p.His363Asn) c.1096C>A (p.His366Asn) c.1072C>A (p.His358Asn) c.1084C>A (p.His362Asn) | |
1 | g.16997101_16997102delinsGC | CA1156032794 | ATP13A2 | c.1113_1114delinsGC (p.Arg371=) c.1098_1099delinsGC (p.Arg366=) n.721_722delinsGC n.252_253delinsGC c.273_274delinsGC (p.Arg91=) c.252_253delinsGC (p.Arg84=) c.1110_1111delinsGC (p.Arg370=) c.1086_1087delinsGC (p.Arg362=) c.1095_1096delinsGC (p.Arg365=) c.1071_1072delinsGC (p.Arg357=) c.1083_1084delinsGC (p.Arg361=) | |
1 | g.16997102C>A | CA416063385 | ATP13A2 | c.1113G>T (p.Arg371=) c.1098G>T (p.Arg366=) n.721G>T n.252G>T c.273G>T (p.Arg91=) c.252G>T (p.Arg84=) c.1110G>T (p.Arg370=) c.1086G>T (p.Arg362=) c.1095G>T (p.Arg365=) c.1071G>T (p.Arg357=) c.1083G>T (p.Arg361=) | |
1 | g.16997102C>G | CA416063386 | ATP13A2 | c.1113G>C (p.Arg371=) c.1098G>C (p.Arg366=) n.721G>C n.252G>C c.273G>C (p.Arg91=) c.252G>C (p.Arg84=) c.1110G>C (p.Arg370=) c.1086G>C (p.Arg362=) c.1095G>C (p.Arg365=) c.1071G>C (p.Arg357=) c.1083G>C (p.Arg361=) | |
1 | g.16997102C>T | CA416063387 | ATP13A2 | c.1113G>A (p.Arg371=) c.1098G>A (p.Arg366=) n.721G>A n.252G>A c.273G>A (p.Arg91=) c.252G>A (p.Arg84=) c.1110G>A (p.Arg370=) c.1086G>A (p.Arg362=) c.1095G>A (p.Arg365=) c.1071G>A (p.Arg357=) c.1083G>A (p.Arg361=) | |
1 | g.16997103del | CA521449877 | ATP13A2 | c.1113del (p.His372ThrfsTer24) c.1098del (p.His367ThrfsTer24) n.721del n.252del c.273del (p.His92ThrfsTer24) c.252del (p.His85ThrfsTer24) c.1110del (p.His371ThrfsTer24) c.1086del (p.His363ThrfsTer24) c.1095del (p.His366ThrfsTer24) c.1071del (p.His358ThrfsTer24) c.1083del (p.His362ThrfsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997103C>A | CA338255142 | ATP13A2 | c.1112G>T (p.Arg371Leu) c.1097G>T (p.Arg366Leu) n.720G>T n.251G>T c.272G>T (p.Arg91Leu) c.251G>T (p.Arg84Leu) c.1109G>T (p.Arg370Leu) c.1085G>T (p.Arg362Leu) c.1094G>T (p.Arg365Leu) c.1070G>T (p.Arg357Leu) c.1082G>T (p.Arg361Leu) | gnomAD v4 |
1 | g.16997103C= | CA1156032803 | ATP13A2 | c.1112G= (p.Arg371=) c.1097G= (p.Arg366=) n.720G= n.251G= c.272G= (p.Arg91=) c.251G= (p.Arg84=) c.1109G= (p.Arg370=) c.1085G= (p.Arg362=) c.1094G= (p.Arg365=) c.1070G= (p.Arg357=) c.1082G= (p.Arg361=) | |
1 | g.16997103C>G | CA338255143 | ATP13A2 | c.1112G>C (p.Arg371Pro) c.1097G>C (p.Arg366Pro) n.720G>C n.251G>C c.272G>C (p.Arg91Pro) c.251G>C (p.Arg84Pro) c.1109G>C (p.Arg370Pro) c.1085G>C (p.Arg362Pro) c.1094G>C (p.Arg365Pro) c.1070G>C (p.Arg357Pro) c.1082G>C (p.Arg361Pro) | |
1 | g.16997103C>T | CA637362 | ATP13A2 | c.1112G>A (p.Arg371Gln) c.1097G>A (p.Arg366Gln) n.720G>A n.251G>A c.272G>A (p.Arg91Gln) c.251G>A (p.Arg84Gln) c.1109G>A (p.Arg370Gln) c.1085G>A (p.Arg362Gln) c.1094G>A (p.Arg365Gln) c.1070G>A (p.Arg357Gln) c.1082G>A (p.Arg361Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997104G>A | CA637364 | ATP13A2 | c.1111C>T (p.Arg371Trp) c.1096C>T (p.Arg366Trp) n.719C>T n.250C>T c.271C>T (p.Arg91Trp) c.250C>T (p.Arg84Trp) c.1108C>T (p.Arg370Trp) c.1084C>T (p.Arg362Trp) c.1093C>T (p.Arg365Trp) c.1069C>T (p.Arg357Trp) c.1081C>T (p.Arg361Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16997104G>C | CA637363 | ATP13A2 | c.1111C>G (p.Arg371Gly) c.1096C>G (p.Arg366Gly) n.719C>G n.250C>G c.271C>G (p.Arg91Gly) c.250C>G (p.Arg84Gly) c.1108C>G (p.Arg370Gly) c.1084C>G (p.Arg362Gly) c.1093C>G (p.Arg365Gly) c.1069C>G (p.Arg357Gly) c.1081C>G (p.Arg361Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997104G= | CA1148299699 | ATP13A2 | c.1111C= (p.Arg371=) c.1096C= (p.Arg366=) n.719C= n.250C= c.271C= (p.Arg91=) c.250C= (p.Arg84=) c.1108C= (p.Arg370=) c.1084C= (p.Arg362=) c.1093C= (p.Arg365=) c.1069C= (p.Arg357=) c.1081C= (p.Arg361=) | |
1 | g.16997104G>T | CA416063404 | ATP13A2 | c.1111C>A (p.Arg371=) c.1096C>A (p.Arg366=) n.719C>A n.250C>A c.271C>A (p.Arg91=) c.250C>A (p.Arg84=) c.1108C>A (p.Arg370=) c.1084C>A (p.Arg362=) c.1093C>A (p.Arg365=) c.1069C>A (p.Arg357=) c.1081C>A (p.Arg361=) | |
1 | g.16997105C>A | CA637365 | ATP13A2 | c.1110G>T (p.Arg370=) c.1095G>T (p.Arg365=) n.718G>T n.249G>T c.270G>T (p.Arg90=) c.249G>T (p.Arg83=) c.1107G>T (p.Arg369=) c.1083G>T (p.Arg361=) c.1092G>T (p.Arg364=) c.1068G>T (p.Arg356=) c.1080G>T (p.Arg360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997105C= | CA1156032819 | ATP13A2 | c.1110G= (p.Arg370=) c.1095G= (p.Arg365=) n.718G= n.249G= c.270G= (p.Arg90=) c.249G= (p.Arg83=) c.1107G= (p.Arg369=) c.1083G= (p.Arg361=) c.1092G= (p.Arg364=) c.1068G= (p.Arg356=) c.1080G= (p.Arg360=) | |
1 | g.16997105C>G | CA416063412 | ATP13A2 | c.1110G>C (p.Arg370=) c.1095G>C (p.Arg365=) n.718G>C n.249G>C c.270G>C (p.Arg90=) c.249G>C (p.Arg83=) c.1107G>C (p.Arg369=) c.1083G>C (p.Arg361=) c.1092G>C (p.Arg364=) c.1068G>C (p.Arg356=) c.1080G>C (p.Arg360=) | gnomAD v4 |
1 | g.16997105C>T | CA416063415 | ATP13A2 | c.1110G>A (p.Arg370=) c.1095G>A (p.Arg365=) n.718G>A n.249G>A c.270G>A (p.Arg90=) c.249G>A (p.Arg83=) c.1107G>A (p.Arg369=) c.1083G>A (p.Arg361=) c.1092G>A (p.Arg364=) c.1068G>A (p.Arg356=) c.1080G>A (p.Arg360=) | |
1 | g.16997106C>A | CA338255149 | ATP13A2 | c.1109G>T (p.Arg370Leu) c.1094G>T (p.Arg365Leu) n.717G>T n.248G>T c.269G>T (p.Arg90Leu) c.248G>T (p.Arg83Leu) c.1106G>T (p.Arg369Leu) c.1082G>T (p.Arg361Leu) c.1091G>T (p.Arg364Leu) c.1067G>T (p.Arg356Leu) c.1079G>T (p.Arg360Leu) | dbSNP gnomAD v2 |
1 | g.16997106C= | CA1143682968 | ATP13A2 | c.1109G= (p.Arg370=) c.1094G= (p.Arg365=) n.717G= n.248G= c.269G= (p.Arg90=) c.248G= (p.Arg83=) c.1106G= (p.Arg369=) c.1082G= (p.Arg361=) c.1091G= (p.Arg364=) c.1067G= (p.Arg356=) c.1079G= (p.Arg360=) | |
1 | g.16997106C>G | CA338255147 | ATP13A2 | c.1109G>C (p.Arg370Pro) c.1094G>C (p.Arg365Pro) n.717G>C n.248G>C c.269G>C (p.Arg90Pro) c.248G>C (p.Arg83Pro) c.1106G>C (p.Arg369Pro) c.1082G>C (p.Arg361Pro) c.1091G>C (p.Arg364Pro) c.1067G>C (p.Arg356Pro) c.1079G>C (p.Arg360Pro) | |
1 | g.16997106C>T | CA637366 | ATP13A2 | c.1109G>A (p.Arg370Gln) c.1094G>A (p.Arg365Gln) n.717G>A n.248G>A c.269G>A (p.Arg90Gln) c.248G>A (p.Arg83Gln) c.1106G>A (p.Arg369Gln) c.1082G>A (p.Arg361Gln) c.1091G>A (p.Arg364Gln) c.1067G>A (p.Arg356Gln) c.1079G>A (p.Arg360Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997107G>A | CA637367 | ATP13A2 | c.1108C>T (p.Arg370Trp) c.1093C>T (p.Arg365Trp) n.716C>T n.247C>T c.268C>T (p.Arg90Trp) c.247C>T (p.Arg83Trp) c.1105C>T (p.Arg369Trp) c.1081C>T (p.Arg361Trp) c.1090C>T (p.Arg364Trp) c.1066C>T (p.Arg356Trp) c.1078C>T (p.Arg360Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.16997107G>C | CA338255151 | ATP13A2 | c.1108C>G (p.Arg370Gly) c.1093C>G (p.Arg365Gly) n.716C>G n.247C>G c.268C>G (p.Arg90Gly) c.247C>G (p.Arg83Gly) c.1105C>G (p.Arg369Gly) c.1081C>G (p.Arg361Gly) c.1090C>G (p.Arg364Gly) c.1066C>G (p.Arg356Gly) c.1078C>G (p.Arg360Gly) | |
1 | g.16997107G= | CA1141877339 | ATP13A2 | c.1108C= (p.Arg370=) c.1093C= (p.Arg365=) n.716C= n.247C= c.268C= (p.Arg90=) c.247C= (p.Arg83=) c.1105C= (p.Arg369=) c.1081C= (p.Arg361=) c.1090C= (p.Arg364=) c.1066C= (p.Arg356=) c.1078C= (p.Arg360=) | |
1 | g.16997107G>T | CA416063428 | ATP13A2 | c.1108C>A (p.Arg370=) c.1093C>A (p.Arg365=) n.716C>A n.247C>A c.268C>A (p.Arg90=) c.247C>A (p.Arg83=) c.1105C>A (p.Arg369=) c.1081C>A (p.Arg361=) c.1090C>A (p.Arg364=) c.1066C>A (p.Arg356=) c.1078C>A (p.Arg360=) | |
1 | g.16997108G>A | CA416063453 | ATP13A2 | c.1107C>T (p.His369=) c.1092C>T (p.His364=) n.715C>T n.246C>T c.267C>T (p.His89=) c.246C>T (p.His82=) c.1104C>T (p.His368=) c.1080C>T (p.His360=) c.1089C>T (p.His363=) c.1065C>T (p.His355=) c.1077C>T (p.His359=) | |
1 | g.16997108G>C | CA338255153 | ATP13A2 | c.1107C>G (p.His369Gln) c.1092C>G (p.His364Gln) n.715C>G n.246C>G c.267C>G (p.His89Gln) c.246C>G (p.His82Gln) c.1104C>G (p.His368Gln) c.1080C>G (p.His360Gln) c.1089C>G (p.His363Gln) c.1065C>G (p.His355Gln) c.1077C>G (p.His359Gln) | |
1 | g.16997108G>T | CA338255155 | ATP13A2 | c.1107C>A (p.His369Gln) c.1092C>A (p.His364Gln) n.715C>A n.246C>A c.267C>A (p.His89Gln) c.246C>A (p.His82Gln) c.1104C>A (p.His368Gln) c.1080C>A (p.His360Gln) c.1089C>A (p.His363Gln) c.1065C>A (p.His355Gln) c.1077C>A (p.His359Gln) | |
1 | g.16997109T>A | CA338255156 | ATP13A2 | c.1106A>T (p.His369Leu) c.1091A>T (p.His364Leu) n.714A>T n.245A>T c.266A>T (p.His89Leu) c.245A>T (p.His82Leu) c.1103A>T (p.His368Leu) c.1079A>T (p.His360Leu) c.1088A>T (p.His363Leu) c.1064A>T (p.His355Leu) c.1076A>T (p.His359Leu) | |
1 | g.16997109T>C | CA338255157 | ATP13A2 | c.1106A>G (p.His369Arg) c.1091A>G (p.His364Arg) n.714A>G n.245A>G c.266A>G (p.His89Arg) c.245A>G (p.His82Arg) c.1103A>G (p.His368Arg) c.1079A>G (p.His360Arg) c.1088A>G (p.His363Arg) c.1064A>G (p.His355Arg) c.1076A>G (p.His359Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997109T>G | CA637368 | ATP13A2 | c.1106A>C (p.His369Pro) c.1091A>C (p.His364Pro) n.714A>C n.245A>C c.266A>C (p.His89Pro) c.245A>C (p.His82Pro) c.1103A>C (p.His368Pro) c.1079A>C (p.His360Pro) c.1088A>C (p.His363Pro) c.1064A>C (p.His355Pro) c.1076A>C (p.His359Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997109T= | CA1156032831 | ATP13A2 | c.1106A= (p.His369=) c.1091A= (p.His364=) n.714A= n.245A= c.266A= (p.His89=) c.245A= (p.His82=) c.1103A= (p.His368=) c.1079A= (p.His360=) c.1088A= (p.His363=) c.1064A= (p.His355=) c.1076A= (p.His359=) | |
1 | g.16997110G>A | CA338255159 | ATP13A2 | c.1105C>T (p.His369Tyr) c.1090C>T (p.His364Tyr) n.713C>T n.244C>T c.265C>T (p.His89Tyr) c.244C>T (p.His82Tyr) c.1102C>T (p.His368Tyr) c.1078C>T (p.His360Tyr) c.1087C>T (p.His363Tyr) c.1063C>T (p.His355Tyr) c.1075C>T (p.His359Tyr) | |
1 | g.16997110G>C | CA338255161 | ATP13A2 | c.1105C>G (p.His369Asp) c.1090C>G (p.His364Asp) n.713C>G n.244C>G c.265C>G (p.His89Asp) c.244C>G (p.His82Asp) c.1102C>G (p.His368Asp) c.1078C>G (p.His360Asp) c.1087C>G (p.His363Asp) c.1063C>G (p.His355Asp) c.1075C>G (p.His359Asp) | ClinVar dbSNP |
1 | g.16997110G= | CA1156032843 | ATP13A2 | c.1105C= (p.His369=) c.1090C= (p.His364=) n.713C= n.244C= c.265C= (p.His89=) c.244C= (p.His82=) c.1102C= (p.His368=) c.1078C= (p.His360=) c.1087C= (p.His363=) c.1063C= (p.His355=) c.1075C= (p.His359=) | |
1 | g.16997110G>T | CA338255162 | ATP13A2 | c.1105C>A (p.His369Asn) c.1090C>A (p.His364Asn) n.713C>A n.244C>A c.265C>A (p.His89Asn) c.244C>A (p.His82Asn) c.1102C>A (p.His368Asn) c.1078C>A (p.His360Asn) c.1087C>A (p.His363Asn) c.1063C>A (p.His355Asn) c.1075C>A (p.His359Asn) | |
1 | g.16997111T>A | CA416063462 | ATP13A2 | c.1104A>T (p.Thr368=) c.1089A>T (p.Thr363=) n.712A>T n.243A>T c.264A>T (p.Thr88=) c.243A>T (p.Thr81=) c.1101A>T (p.Thr367=) c.1077A>T (p.Thr359=) c.1086A>T (p.Thr362=) c.1062A>T (p.Thr354=) c.1074A>T (p.Thr358=) | |
1 | g.16997111T>C | CA637369 | ATP13A2 | c.1104A>G (p.Thr368=) c.1089A>G (p.Thr363=) n.712A>G n.243A>G c.264A>G (p.Thr88=) c.243A>G (p.Thr81=) c.1101A>G (p.Thr367=) c.1077A>G (p.Thr359=) c.1086A>G (p.Thr362=) c.1062A>G (p.Thr354=) c.1074A>G (p.Thr358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997111T>G | CA416063467 | ATP13A2 | c.1104A>C (p.Thr368=) c.1089A>C (p.Thr363=) n.712A>C n.243A>C c.264A>C (p.Thr88=) c.243A>C (p.Thr81=) c.1101A>C (p.Thr367=) c.1077A>C (p.Thr359=) c.1086A>C (p.Thr362=) c.1062A>C (p.Thr354=) c.1074A>C (p.Thr358=) | gnomAD v4 |
1 | g.16997111T= | CA1156032850 | ATP13A2 | c.1104A= (p.Thr368=) c.1089A= (p.Thr363=) n.712A= n.243A= c.264A= (p.Thr88=) c.243A= (p.Thr81=) c.1101A= (p.Thr367=) c.1077A= (p.Thr359=) c.1086A= (p.Thr362=) c.1062A= (p.Thr354=) c.1074A= (p.Thr358=) | |
1 | g.16997112G>A | CA18638411 | ATP13A2 | c.1103C>T (p.Thr368Ile) c.1088C>T (p.Thr363Ile) n.711C>T n.242C>T c.263C>T (p.Thr88Ile) c.242C>T (p.Thr81Ile) c.1100C>T (p.Thr367Ile) c.1076C>T (p.Thr359Ile) c.1085C>T (p.Thr362Ile) c.1061C>T (p.Thr354Ile) c.1073C>T (p.Thr358Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997112G>C | CA338255166 | ATP13A2 | c.1103C>G (p.Thr368Arg) c.1088C>G (p.Thr363Arg) n.711C>G n.242C>G c.263C>G (p.Thr88Arg) c.242C>G (p.Thr81Arg) c.1100C>G (p.Thr367Arg) c.1076C>G (p.Thr359Arg) c.1085C>G (p.Thr362Arg) c.1061C>G (p.Thr354Arg) c.1073C>G (p.Thr358Arg) | |
1 | g.16997112G= | CA1156032859 | ATP13A2 | c.1103C= (p.Thr368=) c.1088C= (p.Thr363=) n.711C= n.242C= c.263C= (p.Thr88=) c.242C= (p.Thr81=) c.1100C= (p.Thr367=) c.1076C= (p.Thr359=) c.1085C= (p.Thr362=) c.1061C= (p.Thr354=) c.1073C= (p.Thr358=) | |
1 | g.16997112G>T | CA338255164 | ATP13A2 | c.1103C>A (p.Thr368Lys) c.1088C>A (p.Thr363Lys) n.711C>A n.242C>A c.263C>A (p.Thr88Lys) c.242C>A (p.Thr81Lys) c.1100C>A (p.Thr367Lys) c.1076C>A (p.Thr359Lys) c.1085C>A (p.Thr362Lys) c.1061C>A (p.Thr354Lys) c.1073C>A (p.Thr358Lys) | |
1 | g.16997113T>A | CA338255173 | ATP13A2 | c.1102A>T (p.Thr368Ser) c.1087A>T (p.Thr363Ser) n.710A>T n.241A>T c.262A>T (p.Thr88Ser) c.241A>T (p.Thr81Ser) c.1099A>T (p.Thr367Ser) c.1075A>T (p.Thr359Ser) c.1084A>T (p.Thr362Ser) c.1060A>T (p.Thr354Ser) c.1072A>T (p.Thr358Ser) | |
1 | g.16997113T>C | CA338255175 | ATP13A2 | c.1102A>G (p.Thr368Ala) c.1087A>G (p.Thr363Ala) n.710A>G n.241A>G c.262A>G (p.Thr88Ala) c.241A>G (p.Thr81Ala) c.1099A>G (p.Thr367Ala) c.1075A>G (p.Thr359Ala) c.1084A>G (p.Thr362Ala) c.1060A>G (p.Thr354Ala) c.1072A>G (p.Thr358Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997113T>G | CA338255171 | ATP13A2 | c.1102A>C (p.Thr368Pro) c.1087A>C (p.Thr363Pro) n.710A>C n.241A>C c.262A>C (p.Thr88Pro) c.241A>C (p.Thr81Pro) c.1099A>C (p.Thr367Pro) c.1075A>C (p.Thr359Pro) c.1084A>C (p.Thr362Pro) c.1060A>C (p.Thr354Pro) c.1072A>C (p.Thr358Pro) | |
1 | g.16997113T= | CA1156032872 | ATP13A2 | c.1102A= (p.Thr368=) c.1087A= (p.Thr363=) n.710A= n.241A= c.262A= (p.Thr88=) c.241A= (p.Thr81=) c.1099A= (p.Thr367=) c.1075A= (p.Thr359=) c.1084A= (p.Thr362=) c.1060A= (p.Thr354=) c.1072A= (p.Thr358=) | |
1 | g.16997116_16997117dup | CA259915 | ATP13A2 | c.1101_1102dup (p.Thr368ArgfsTer29) c.1086_1087dup (p.Thr363ArgfsTer29) n.709_710dup n.240_241dup c.261_262dup (p.Thr88ArgfsTer29) c.240_241dup (p.Thr81ArgfsTer29) c.1098_1099dup (p.Thr367ArgfsTer29) c.1074_1075dup (p.Thr359ArgfsTer29) c.1083_1084dup (p.Thr362ArgfsTer29) c.1059_1060dup (p.Thr354ArgfsTer29) c.1071_1072dup (p.Thr358ArgfsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16997114C>A | CA338255176 | ATP13A2 | c.1101G>T (p.Glu367Asp) c.1086G>T (p.Glu362Asp) n.709G>T n.240G>T c.261G>T (p.Glu87Asp) c.240G>T (p.Glu80Asp) c.1098G>T (p.Glu366Asp) c.1074G>T (p.Glu358Asp) c.1083G>T (p.Glu361Asp) c.1059G>T (p.Glu353Asp) c.1071G>T (p.Glu357Asp) | |
1 | g.16997114C>G | CA338255177 | ATP13A2 | c.1101G>C (p.Glu367Asp) c.1086G>C (p.Glu362Asp) n.709G>C n.240G>C c.261G>C (p.Glu87Asp) c.240G>C (p.Glu80Asp) c.1098G>C (p.Glu366Asp) c.1074G>C (p.Glu358Asp) c.1083G>C (p.Glu361Asp) c.1059G>C (p.Glu353Asp) c.1071G>C (p.Glu357Asp) | |
1 | g.16997114C>T | CA416063492 | ATP13A2 | c.1101G>A (p.Glu367=) c.1086G>A (p.Glu362=) n.709G>A n.240G>A c.261G>A (p.Glu87=) c.240G>A (p.Glu80=) c.1098G>A (p.Glu366=) c.1074G>A (p.Glu358=) c.1083G>A (p.Glu361=) c.1059G>A (p.Glu353=) c.1071G>A (p.Glu357=) | |
1 | g.16997115T>A | CA338255179 | ATP13A2 | c.1100A>T (p.Glu367Val) c.1085A>T (p.Glu362Val) n.708A>T n.239A>T c.260A>T (p.Glu87Val) c.239A>T (p.Glu80Val) c.1097A>T (p.Glu366Val) c.1073A>T (p.Glu358Val) c.1082A>T (p.Glu361Val) c.1058A>T (p.Glu353Val) c.1070A>T (p.Glu357Val) | |
1 | g.16997115T>C | CA338255181 | ATP13A2 | c.1100A>G (p.Glu367Gly) c.1085A>G (p.Glu362Gly) n.708A>G n.239A>G c.260A>G (p.Glu87Gly) c.239A>G (p.Glu80Gly) c.1097A>G (p.Glu366Gly) c.1073A>G (p.Glu358Gly) c.1082A>G (p.Glu361Gly) c.1058A>G (p.Glu353Gly) c.1070A>G (p.Glu357Gly) | |
1 | g.16997115T>G | CA338255182 | ATP13A2 | c.1100A>C (p.Glu367Ala) c.1085A>C (p.Glu362Ala) n.708A>C n.239A>C c.260A>C (p.Glu87Ala) c.239A>C (p.Glu80Ala) c.1097A>C (p.Glu366Ala) c.1073A>C (p.Glu358Ala) c.1082A>C (p.Glu361Ala) c.1058A>C (p.Glu353Ala) c.1070A>C (p.Glu357Ala) | |
1 | g.16997116C>A | CA338255184 | ATP13A2 | c.1099G>T (p.Glu367Ter) c.1084G>T (p.Glu362Ter) n.707G>T n.238G>T c.259G>T (p.Glu87Ter) c.238G>T (p.Glu80Ter) c.1096G>T (p.Glu366Ter) c.1072G>T (p.Glu358Ter) c.1081G>T (p.Glu361Ter) c.1057G>T (p.Glu353Ter) c.1069G>T (p.Glu357Ter) | |
1 | g.16997116C= | CA1156032879 | ATP13A2 | c.1099G= (p.Glu367=) c.1084G= (p.Glu362=) n.707G= n.238G= c.259G= (p.Glu87=) c.238G= (p.Glu80=) c.1096G= (p.Glu366=) c.1072G= (p.Glu358=) c.1081G= (p.Glu361=) c.1057G= (p.Glu353=) c.1069G= (p.Glu357=) | |
1 | g.16997116C>G | CA338255186 | ATP13A2 | c.1099G>C (p.Glu367Gln) c.1084G>C (p.Glu362Gln) n.707G>C n.238G>C c.259G>C (p.Glu87Gln) c.238G>C (p.Glu80Gln) c.1096G>C (p.Glu366Gln) c.1072G>C (p.Glu358Gln) c.1081G>C (p.Glu361Gln) c.1057G>C (p.Glu353Gln) c.1069G>C (p.Glu357Gln) | |
1 | g.16997116C>T | CA637370 | ATP13A2 | c.1099G>A (p.Glu367Lys) c.1084G>A (p.Glu362Lys) n.707G>A n.238G>A c.259G>A (p.Glu87Lys) c.238G>A (p.Glu80Lys) c.1096G>A (p.Glu366Lys) c.1072G>A (p.Glu358Lys) c.1081G>A (p.Glu361Lys) c.1057G>A (p.Glu353Lys) c.1069G>A (p.Glu357Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16997117T>A | CA416063501 | ATP13A2 | c.1098A>T (p.Ala366=) c.1083A>T (p.Ala361=) n.706A>T n.237A>T c.258A>T (p.Ala86=) c.237A>T (p.Ala79=) c.1095A>T (p.Ala365=) c.1071A>T (p.Ala357=) c.1080A>T (p.Ala360=) c.1056A>T (p.Ala352=) c.1068A>T (p.Ala356=) | |
1 | g.16997117T>C | CA416063504 | ATP13A2 | c.1098A>G (p.Ala366=) c.1083A>G (p.Ala361=) n.706A>G n.237A>G c.258A>G (p.Ala86=) c.237A>G (p.Ala79=) c.1095A>G (p.Ala365=) c.1071A>G (p.Ala357=) c.1080A>G (p.Ala360=) c.1056A>G (p.Ala352=) c.1068A>G (p.Ala356=) | gnomAD v4 |
1 | g.16997117T>G | CA416063506 | ATP13A2 | c.1098A>C (p.Ala366=) c.1083A>C (p.Ala361=) n.706A>C n.237A>C c.258A>C (p.Ala86=) c.237A>C (p.Ala79=) c.1095A>C (p.Ala365=) c.1071A>C (p.Ala357=) c.1080A>C (p.Ala360=) c.1056A>C (p.Ala352=) c.1068A>C (p.Ala356=) | |
1 | g.16997118G>A | CA338255188 | ATP13A2 | c.1097C>T (p.Ala366Val) c.1082C>T (p.Ala361Val) n.705C>T n.236C>T c.257C>T (p.Ala86Val) c.236C>T (p.Ala79Val) c.1094C>T (p.Ala365Val) c.1070C>T (p.Ala357Val) c.1079C>T (p.Ala360Val) c.1055C>T (p.Ala352Val) c.1067C>T (p.Ala356Val) | |
1 | g.16997118G>C | CA338255190 | ATP13A2 | c.1097C>G (p.Ala366Gly) c.1082C>G (p.Ala361Gly) n.705C>G n.236C>G c.257C>G (p.Ala86Gly) c.236C>G (p.Ala79Gly) c.1094C>G (p.Ala365Gly) c.1070C>G (p.Ala357Gly) c.1079C>G (p.Ala360Gly) c.1055C>G (p.Ala352Gly) c.1067C>G (p.Ala356Gly) | |
1 | g.16997118G>T | CA338255192 | ATP13A2 | c.1097C>A (p.Ala366Glu) c.1082C>A (p.Ala361Glu) n.705C>A n.236C>A c.257C>A (p.Ala86Glu) c.236C>A (p.Ala79Glu) c.1094C>A (p.Ala365Glu) c.1070C>A (p.Ala357Glu) c.1079C>A (p.Ala360Glu) c.1055C>A (p.Ala352Glu) c.1067C>A (p.Ala356Glu) | |
1 | g.16997119C>A | CA338255195 | ATP13A2 | c.1096G>T (p.Ala366Ser) c.1081G>T (p.Ala361Ser) n.704G>T n.235G>T c.256G>T (p.Ala86Ser) c.235G>T (p.Ala79Ser) c.1093G>T (p.Ala365Ser) c.1069G>T (p.Ala357Ser) c.1078G>T (p.Ala360Ser) c.1054G>T (p.Ala352Ser) c.1066G>T (p.Ala356Ser) | gnomAD v4 |
1 | g.16997119C= | CA1156032882 | ATP13A2 | c.1096G= (p.Ala366=) c.1081G= (p.Ala361=) n.704G= n.235G= c.256G= (p.Ala86=) c.235G= (p.Ala79=) c.1093G= (p.Ala365=) c.1069G= (p.Ala357=) c.1078G= (p.Ala360=) c.1054G= (p.Ala352=) c.1066G= (p.Ala356=) | |
1 | g.16997119C>G | CA338255193 | ATP13A2 | c.1096G>C (p.Ala366Pro) c.1081G>C (p.Ala361Pro) n.704G>C n.235G>C c.256G>C (p.Ala86Pro) c.235G>C (p.Ala79Pro) c.1093G>C (p.Ala365Pro) c.1069G>C (p.Ala357Pro) c.1078G>C (p.Ala360Pro) c.1054G>C (p.Ala352Pro) c.1066G>C (p.Ala356Pro) | |
1 | g.16997119C>T | CA338255194 | ATP13A2 | c.1096G>A (p.Ala366Thr) c.1081G>A (p.Ala361Thr) n.704G>A n.235G>A c.256G>A (p.Ala86Thr) c.235G>A (p.Ala79Thr) c.1093G>A (p.Ala365Thr) c.1069G>A (p.Ala357Thr) c.1078G>A (p.Ala360Thr) c.1054G>A (p.Ala352Thr) c.1066G>A (p.Ala356Thr) | dbSNP gnomAD v4 |
1 | g.16997120A>C | CA338255196 | ATP13A2 | c.1095T>G (p.Cys365Trp) c.1080T>G (p.Cys360Trp) n.703T>G n.234T>G c.255T>G (p.Cys85Trp) c.234T>G (p.Cys78Trp) c.1092T>G (p.Cys364Trp) c.1068T>G (p.Cys356Trp) c.1077T>G (p.Cys359Trp) c.1053T>G (p.Cys351Trp) c.1065T>G (p.Cys355Trp) | COSMIC |
1 | g.16997120A>G | CA416063516 | ATP13A2 | c.1095T>C (p.Cys365=) c.1080T>C (p.Cys360=) n.703T>C n.234T>C c.255T>C (p.Cys85=) c.234T>C (p.Cys78=) c.1092T>C (p.Cys364=) c.1068T>C (p.Cys356=) c.1077T>C (p.Cys359=) c.1053T>C (p.Cys351=) c.1065T>C (p.Cys355=) | ClinVar dbSNP gnomAD v4 |
1 | g.16997120A>T | CA338255197 | ATP13A2 | c.1095T>A (p.Cys365Ter) c.1080T>A (p.Cys360Ter) n.703T>A n.234T>A c.255T>A (p.Cys85Ter) c.234T>A (p.Cys78Ter) c.1092T>A (p.Cys364Ter) c.1068T>A (p.Cys356Ter) c.1077T>A (p.Cys359Ter) c.1053T>A (p.Cys351Ter) c.1065T>A (p.Cys355Ter) | |
1 | g.16997121C>A | CA637371 | ATP13A2 | c.1094G>T (p.Cys365Phe) c.1079G>T (p.Cys360Phe) n.702G>T n.233G>T c.254G>T (p.Cys85Phe) c.233G>T (p.Cys78Phe) c.1091G>T (p.Cys364Phe) c.1067G>T (p.Cys356Phe) c.1076G>T (p.Cys359Phe) c.1052G>T (p.Cys351Phe) c.1064G>T (p.Cys355Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997121C= | CA1156032886 | ATP13A2 | c.1094G= (p.Cys365=) c.1079G= (p.Cys360=) n.702G= n.233G= c.254G= (p.Cys85=) c.233G= (p.Cys78=) c.1091G= (p.Cys364=) c.1067G= (p.Cys356=) c.1076G= (p.Cys359=) c.1052G= (p.Cys351=) c.1064G= (p.Cys355=) | |
1 | g.16997121C>G | CA338255199 | ATP13A2 | c.1094G>C (p.Cys365Ser) c.1079G>C (p.Cys360Ser) n.702G>C n.233G>C c.254G>C (p.Cys85Ser) c.233G>C (p.Cys78Ser) c.1091G>C (p.Cys364Ser) c.1067G>C (p.Cys356Ser) c.1076G>C (p.Cys359Ser) c.1052G>C (p.Cys351Ser) c.1064G>C (p.Cys355Ser) | gnomAD v4 |
1 | g.16997121C>T | CA338255200 | ATP13A2 | c.1094G>A (p.Cys365Tyr) c.1079G>A (p.Cys360Tyr) n.702G>A n.233G>A c.254G>A (p.Cys85Tyr) c.233G>A (p.Cys78Tyr) c.1091G>A (p.Cys364Tyr) c.1067G>A (p.Cys356Tyr) c.1076G>A (p.Cys359Tyr) c.1052G>A (p.Cys351Tyr) c.1064G>A (p.Cys355Tyr) | dbSNP |
1 | g.16997122A= | CA1156032889 | ATP13A2 | c.1093T= (p.Cys365=) c.1078T= (p.Cys360=) n.701T= n.232T= c.253T= (p.Cys85=) c.232T= (p.Cys78=) c.1090T= (p.Cys364=) c.1066T= (p.Cys356=) c.1075T= (p.Cys359=) c.1051T= (p.Cys351=) c.1063T= (p.Cys355=) | |
1 | g.16997122A>C | CA338255201 | ATP13A2 | c.1093T>G (p.Cys365Gly) c.1078T>G (p.Cys360Gly) n.701T>G n.232T>G c.253T>G (p.Cys85Gly) c.232T>G (p.Cys78Gly) c.1090T>G (p.Cys364Gly) c.1066T>G (p.Cys356Gly) c.1075T>G (p.Cys359Gly) c.1051T>G (p.Cys351Gly) c.1063T>G (p.Cys355Gly) | |
1 | g.16997122A>G | CA338255203 | ATP13A2 | c.1093T>C (p.Cys365Arg) c.1078T>C (p.Cys360Arg) n.701T>C n.232T>C c.253T>C (p.Cys85Arg) c.232T>C (p.Cys78Arg) c.1090T>C (p.Cys364Arg) c.1066T>C (p.Cys356Arg) c.1075T>C (p.Cys359Arg) c.1051T>C (p.Cys351Arg) c.1063T>C (p.Cys355Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16997122A>T | CA338255204 | ATP13A2 | c.1093T>A (p.Cys365Ser) c.1078T>A (p.Cys360Ser) n.701T>A n.232T>A c.253T>A (p.Cys85Ser) c.232T>A (p.Cys78Ser) c.1090T>A (p.Cys364Ser) c.1066T>A (p.Cys356Ser) c.1075T>A (p.Cys359Ser) c.1051T>A (p.Cys351Ser) c.1063T>A (p.Cys355Ser) | |
1 | g.16997123G>A | CA416063559 | ATP13A2 | c.1092C>T (p.Tyr364=) c.1077C>T (p.Tyr359=) n.700C>T n.231C>T c.252C>T (p.Tyr84=) c.231C>T (p.Tyr77=) c.1089C>T (p.Tyr363=) c.1065C>T (p.Tyr355=) c.1074C>T (p.Tyr358=) c.1050C>T (p.Tyr350=) c.1062C>T (p.Tyr354=) | |
1 | g.16997123G>C | CA338255206 | ATP13A2 | c.1092C>G (p.Tyr364Ter) c.1077C>G (p.Tyr359Ter) n.700C>G n.231C>G c.252C>G (p.Tyr84Ter) c.231C>G (p.Tyr77Ter) c.1089C>G (p.Tyr363Ter) c.1065C>G (p.Tyr355Ter) c.1074C>G (p.Tyr358Ter) c.1050C>G (p.Tyr350Ter) c.1062C>G (p.Tyr354Ter) | |
1 | g.16997123G>T | CA338255208 | ATP13A2 | c.1092C>A (p.Tyr364Ter) c.1077C>A (p.Tyr359Ter) n.700C>A n.231C>A c.252C>A (p.Tyr84Ter) c.231C>A (p.Tyr77Ter) c.1089C>A (p.Tyr363Ter) c.1065C>A (p.Tyr355Ter) c.1074C>A (p.Tyr358Ter) c.1050C>A (p.Tyr350Ter) c.1062C>A (p.Tyr354Ter) | |
1 | g.16997124T>A | CA338255211 | ATP13A2 | c.1091A>T (p.Tyr364Phe) c.1076A>T (p.Tyr359Phe) n.699A>T n.230A>T c.251A>T (p.Tyr84Phe) c.230A>T (p.Tyr77Phe) c.1088A>T (p.Tyr363Phe) c.1064A>T (p.Tyr355Phe) c.1073A>T (p.Tyr358Phe) c.1049A>T (p.Tyr350Phe) c.1061A>T (p.Tyr354Phe) | |
1 | g.16997124T>C | CA338255210 | ATP13A2 | c.1091A>G (p.Tyr364Cys) c.1076A>G (p.Tyr359Cys) n.699A>G n.230A>G c.251A>G (p.Tyr84Cys) c.230A>G (p.Tyr77Cys) c.1088A>G (p.Tyr363Cys) c.1064A>G (p.Tyr355Cys) c.1073A>G (p.Tyr358Cys) c.1049A>G (p.Tyr350Cys) c.1061A>G (p.Tyr354Cys) | |
1 | g.16997124T>G | CA637372 | ATP13A2 | c.1091A>C (p.Tyr364Ser) c.1076A>C (p.Tyr359Ser) n.699A>C n.230A>C c.251A>C (p.Tyr84Ser) c.230A>C (p.Tyr77Ser) c.1088A>C (p.Tyr363Ser) c.1064A>C (p.Tyr355Ser) c.1073A>C (p.Tyr358Ser) c.1049A>C (p.Tyr350Ser) c.1061A>C (p.Tyr354Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16997124T= | CA1141652103 | ATP13A2 | c.1091A= (p.Tyr364=) c.1076A= (p.Tyr359=) n.699A= n.230A= c.251A= (p.Tyr84=) c.230A= (p.Tyr77=) c.1088A= (p.Tyr363=) c.1064A= (p.Tyr355=) c.1073A= (p.Tyr358=) c.1049A= (p.Tyr350=) c.1061A= (p.Tyr354=) | |
1 | g.16997125A>C | CA338255212 | ATP13A2 | c.1090T>G (p.Tyr364Asp) c.1075T>G (p.Tyr359Asp) n.698T>G n.229T>G c.250T>G (p.Tyr84Asp) c.229T>G (p.Tyr77Asp) c.1087T>G (p.Tyr363Asp) c.1063T>G (p.Tyr355Asp) c.1072T>G (p.Tyr358Asp) c.1048T>G (p.Tyr350Asp) c.1060T>G (p.Tyr354Asp) | |
1 | g.16997125A>G | CA338255213 | ATP13A2 | c.1090T>C (p.Tyr364His) c.1075T>C (p.Tyr359His) n.698T>C n.229T>C c.250T>C (p.Tyr84His) c.229T>C (p.Tyr77His) c.1087T>C (p.Tyr363His) c.1063T>C (p.Tyr355His) c.1072T>C (p.Tyr358His) c.1048T>C (p.Tyr350His) c.1060T>C (p.Tyr354His) | |
1 | g.16997125A>T | CA338255215 | ATP13A2 | c.1090T>A (p.Tyr364Asn) c.1075T>A (p.Tyr359Asn) n.698T>A n.229T>A c.250T>A (p.Tyr84Asn) c.229T>A (p.Tyr77Asn) c.1087T>A (p.Tyr363Asn) c.1063T>A (p.Tyr355Asn) c.1072T>A (p.Tyr358Asn) c.1048T>A (p.Tyr350Asn) c.1060T>A (p.Tyr354Asn) | |
1 | g.16997126G>A | CA416063605 | ATP13A2 | c.1089C>T (p.Pro363=) c.1074C>T (p.Pro358=) n.697C>T n.228C>T c.249C>T (p.Pro83=) c.228C>T (p.Pro76=) c.1086C>T (p.Pro362=) c.1062C>T (p.Pro354=) c.1071C>T (p.Pro357=) c.1047C>T (p.Pro349=) c.1059C>T (p.Pro353=) | gnomAD v4 |
1 | g.16997126G>C | CA416063619 | ATP13A2 | c.1089C>G (p.Pro363=) c.1074C>G (p.Pro358=) n.697C>G n.228C>G c.249C>G (p.Pro83=) c.228C>G (p.Pro76=) c.1086C>G (p.Pro362=) c.1062C>G (p.Pro354=) c.1071C>G (p.Pro357=) c.1047C>G (p.Pro349=) c.1059C>G (p.Pro353=) | |
1 | g.16997126G>T | CA416063622 | ATP13A2 | c.1089C>A (p.Pro363=) c.1074C>A (p.Pro358=) n.697C>A n.228C>A c.249C>A (p.Pro83=) c.228C>A (p.Pro76=) c.1086C>A (p.Pro362=) c.1062C>A (p.Pro354=) c.1071C>A (p.Pro357=) c.1047C>A (p.Pro349=) c.1059C>A (p.Pro353=) | |
1 | g.16997127G>A | CA338255217 | ATP13A2 | c.1088C>T (p.Pro363Leu) c.1073C>T (p.Pro358Leu) n.696C>T n.227C>T c.248C>T (p.Pro83Leu) c.227C>T (p.Pro76Leu) c.1085C>T (p.Pro362Leu) c.1061C>T (p.Pro354Leu) c.1070C>T (p.Pro357Leu) c.1046C>T (p.Pro349Leu) c.1058C>T (p.Pro353Leu) | COSMIC COSMIC |
1 | g.16997127G>C | CA338255219 | ATP13A2 | c.1088C>G (p.Pro363Arg) c.1073C>G (p.Pro358Arg) n.696C>G n.227C>G c.248C>G (p.Pro83Arg) c.227C>G (p.Pro76Arg) c.1085C>G (p.Pro362Arg) c.1061C>G (p.Pro354Arg) c.1070C>G (p.Pro357Arg) c.1046C>G (p.Pro349Arg) c.1058C>G (p.Pro353Arg) | |
1 | g.16997127G>T | CA338255220 | ATP13A2 | c.1088C>A (p.Pro363His) c.1073C>A (p.Pro358His) n.696C>A n.227C>A c.248C>A (p.Pro83His) c.227C>A (p.Pro76His) c.1085C>A (p.Pro362His) c.1061C>A (p.Pro354His) c.1070C>A (p.Pro357His) c.1046C>A (p.Pro349His) c.1058C>A (p.Pro353His) | gnomAD v4 |
1 | g.16997128G>A | CA338255221 | ATP13A2 | c.1087C>T (p.Pro363Ser) c.1072C>T (p.Pro358Ser) n.695C>T n.226C>T c.247C>T (p.Pro83Ser) c.226C>T (p.Pro76Ser) c.1084C>T (p.Pro362Ser) c.1060C>T (p.Pro354Ser) c.1069C>T (p.Pro357Ser) c.1045C>T (p.Pro349Ser) c.1057C>T (p.Pro353Ser) | gnomAD v4 |
1 | g.16997128G>C | CA338255223 | ATP13A2 | c.1087C>G (p.Pro363Ala) c.1072C>G (p.Pro358Ala) n.695C>G n.226C>G c.247C>G (p.Pro83Ala) c.226C>G (p.Pro76Ala) c.1084C>G (p.Pro362Ala) c.1060C>G (p.Pro354Ala) c.1069C>G (p.Pro357Ala) c.1045C>G (p.Pro349Ala) c.1057C>G (p.Pro353Ala) | |
1 | g.16997128G>T | CA338255225 | ATP13A2 | c.1087C>A (p.Pro363Thr) c.1072C>A (p.Pro358Thr) n.695C>A n.226C>A c.247C>A (p.Pro83Thr) c.226C>A (p.Pro76Thr) c.1084C>A (p.Pro362Thr) c.1060C>A (p.Pro354Thr) c.1069C>A (p.Pro357Thr) c.1045C>A (p.Pro349Thr) c.1057C>A (p.Pro353Thr) |