NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
|
rs17222547
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
NM_001385.3(DPYS):c.424-1G>A
|
rs879851088
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)
|
rs1564687941
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
NM_003630.3(PEX3):c.288-1G>A
|
rs752904598
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)
|
rs794727760
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000392.5(ABCC2):c.3741+1G>A
|
rs34937870
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)
|
rs794727683
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)
|
rs751610886
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002427.4(MMP13):c.772dup (p.Asp258fs)
|
rs797044754
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
|
rs746830415
|
|
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)
|
rs1460604134
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_025193.4(HSD3B7):c.890del (p.Phe297fs)
|
rs886043511
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|