NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_001829.4(CLCN3):c.1238C>T (p.Ala413Val)
|
rs1190062987
|
0.00001
|
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)
|
rs370244148
|
0.00001
|
NM_000304.4(PMP22):c.35A>G (p.His12Arg)
|
rs1909248652
|
|
NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs)
|
rs2151690905
|
|
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr)
|
rs1555488144
|
|
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs)
|
rs2134153013
|
|
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs)
|
rs797044652
|
|
NM_001829.4(CLCN3):c.1357A>C (p.Ser453Arg)
|
rs201059509
|
|
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)
|
rs1732900321
|
|
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)
|
rs2150267036
|
|
NM_001829.4(CLCN3):c.2315T>C (p.Val772Ala)
|
rs2150274994
|
|
NM_001829.4(CLCN3):c.254A>G (p.Tyr85Cys)
|
rs2150238934
|
|
NM_001829.4(CLCN3):c.336_339del (p.Lys112fs)
|
rs2150246636
|
|
NM_001829.4(CLCN3):c.971T>C (p.Val324Ala)
|
rs2150254146
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)
|
rs1598413570
|
|
NM_003737.4(DCHS1):c.1964del (p.Phe655fs)
|
rs2134634960
|
|
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg)
|
rs1057516211
|
|
NM_004991.4(MECOM):c.2849G>C (p.Arg950Thr)
|
rs2148947240
|
|
NM_005772.5(RCL1):c.370C>T (p.Gln124Ter)
|
rs1816786087
|
|
NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)
|
rs1580027036
|
|
NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)
|
rs768643552
|
|
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)
|
rs753611141
|
|
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs)
|
rs2145372935
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)
|
rs772489337
|
|
NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)
|
rs2085184370
|
|
NM_031448.6(C19orf12):c.182dup (p.Leu61fs)
|
rs2145623001
|
|
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)
|
rs1555865401
|
|
NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del)
|
rs2108372267
|
|
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)
|
rs1376687924
|
|