NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
|
rs2076962370
|
0.00001
|
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
|
rs2076949269
|
0.00001
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
rs1334843918
|
0.00001
|
NC_000001.10:g.(?_17316166)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_17330807)_(17332293_?)del
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
rs2523962293
|
|
NM_022089.4(ATP13A2):c.1113del (p.His372fs)
|
rs1377055875
|
|
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
|
rs2523638610
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
|
rs2523608853
|
|
NM_022089.4(ATP13A2):c.1382del (p.Ala461fs)
|
|
|
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
|
rs2523315114
|
|
NM_022089.4(ATP13A2):c.1970del (p.Pro657fs)
|
|
|
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
|
rs774115028
|
|
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
|
rs1468568465
|
|
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)
|
rs2100768788
|
|
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
|
rs1389678247
|
|
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
|
rs1389678247
|
|
NM_022089.4(ATP13A2):c.2366_2367del (p.Leu789fs)
|
|
|
NM_022089.4(ATP13A2):c.2539C>T (p.Gln847Ter)
|
|
|
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
|
rs2523049776
|
|
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)
|
rs1557666781
|
|
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
|
rs747617559
|
|
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs)
|
rs1570759415
|
|
NM_022089.4(ATP13A2):c.379del (p.Asp127fs)
|
|
|
NM_022089.4(ATP13A2):c.409del (p.Val137fs)
|
rs2077487643
|
|
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
|
rs2524336523
|
|
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
|
rs2524203249
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
rs758150853
|
|
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)
|
rs1483668823
|
|
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
|
rs2523972211
|
|