NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)
|
rs398123287
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)
|
rs1180294322
|
0.00001
|
NC_000023.11:g.153694345del
|
rs1603217468
|
|
NM_000273.3(GPR143):c.360+2T>C
|
rs2146700764
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000372.5(TYR):c.[1205G>A;575C>A]
|
|
|
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)
|
rs1578280614
|
|
NM_001034853.2(RPGR):c.919del (p.Thr307fs)
|
rs1601951595
|
|
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys)
|
rs2144955129
|
|
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs)
|
rs2054200651
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_003042.4(SLC6A1):c.1528-1G>C
|
rs1574924801
|
|
NM_003042.4(SLC6A1):c.801del (p.Ile268fs)
|
rs1574906665
|
|
NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs)
|
rs1573881742
|
|
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu)
|
rs1588352395
|
|
NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)
|
rs1658063448
|
|
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)
|
rs1570752696
|
|
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)
|
rs1555889108
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)
|
rs1569017015
|
|
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)
|
rs2091474617
|
|
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)
|
rs1603217815
|
|
NM_015629.4(PRPF31):c.1074-1G>C
|
|
|
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer)
|
rs1554040120
|
|
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)
|
rs587777578
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|