NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)
|
rs12407578
|
0.00280
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)
|
rs141670485
|
0.00076
|
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)
|
rs146488112
|
0.00073
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile)
|
rs142270656
|
0.00043
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
|
rs374754187
|
0.00016
|
NM_007254.4(PNKP):c.1298+6G>A
|
rs578207030
|
0.00010
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)
|
rs146589155
|
0.00009
|
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
|
rs768567927
|
0.00006
|
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)
|
rs148356821
|
0.00006
|
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)
|
rs776251343
|
0.00005
|
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)
|
rs146889077
|
0.00005
|
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln)
|
rs756615407
|
0.00005
|
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)
|
rs966474941
|
0.00004
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
0.00003
|
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)
|
rs769010867
|
0.00003
|
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg)
|
rs1192775388
|
0.00002
|
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
|
rs1028247558
|
0.00002
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
0.00001
|
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)
|
rs775767366
|
0.00001
|
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His)
|
rs180883554
|
0.00001
|
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met)
|
rs201819449
|
0.00001
|
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala)
|
rs1465369949
|
0.00001
|
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)
|
rs1739849007
|
|
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)
|
rs768567927
|
|
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
|
rs1473117442
|
|
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)
|
rs1568663138
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)
|
rs2074784919
|
|
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
|
|
|
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)
|
rs772644485
|
|
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
|
|
|
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)
|
rs1644798894
|
|
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
|
|
|
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
|
|
|
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
|
|
|
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)
|
rs151332868
|
|
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)
|
rs1436479178
|
|
NM_015378.4(VPS13D):c.4451-16A>G
|
rs768036528
|
|
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)
|
rs779567569
|
|
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
|
|
|
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
|
|
|
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
|
|
|
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)
|
rs201376188
|
|
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)
|
rs868755481
|
|
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met)
|
rs1232333514
|
|
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)
|
rs750000898
|
|
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)
|
rs767319743
|
|