NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
|
rs61748814
|
0.01397
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)
|
rs202073376
|
0.00078
|
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val)
|
rs141004029
|
0.00058
|
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)
|
rs200808372
|
0.00054
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
|
rs200963473
|
0.00014
|
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)
|
rs150009231
|
0.00011
|
NM_031466.8(TRAPPC9):c.-74C>A
|
rs139214686
|
0.00011
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_022168.4(IFIH1):c.454-1G>T
|
rs148590996
|
0.00009
|
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp)
|
rs185208659
|
0.00007
|
NM_004830.4(MED23):c.367C>T (p.Arg123Trp)
|
rs374403178
|
0.00006
|
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)
|
rs770105141
|
0.00006
|
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)
|
rs375397452
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)
|
rs202095223
|
0.00005
|
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)
|
rs141953092
|
0.00005
|
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys)
|
rs782134827
|
0.00005
|
NM_005529.7(HSPG2):c.9563A>C (p.Gln3188Pro)
|
rs758584149
|
0.00004
|
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)
|
rs146550270
|
0.00004
|
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)
|
rs142386992
|
0.00003
|
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys)
|
rs367946511
|
0.00003
|
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val)
|
rs369399401
|
0.00003
|
NM_005529.7(HSPG2):c.5516T>C (p.Val1839Ala)
|
rs751036475
|
0.00002
|
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)
|
rs772430525
|
0.00001
|
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys)
|
rs370666072
|
0.00001
|
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)
|
rs766140596
|
0.00001
|
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg)
|
rs200198786
|
0.00001
|
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys)
|
rs759874234
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala)
|
rs782636303
|
|
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)
|
rs553001596
|
|
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro)
|
rs1553906488
|
|
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)
|
rs760333260
|
|
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)
|
rs797045687
|
|
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg)
|
rs143361777
|
|
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)
|
rs778948697
|
|
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)
|
rs61746139
|
|
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)
|
rs886043878
|
|