NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)
|
rs138632121
|
0.00020
|
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)
|
rs200426926
|
0.00020
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
0.00009
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)
|
rs201088736
|
0.00004
|
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)
|
rs773204795
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)
|
rs1380005347
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)
|
rs3210083
|
0.00001
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)
|
rs367679074
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)
|
rs1057519455
|
0.00001
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_001032221.6(STXBP1):c.37+2dup
|
rs1838431452
|
|
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)
|
rs1774229245
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)
|
rs587777193
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)
|
rs2139156247
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_002526.4(NT5E):c.1608dup (p.Val537fs)
|
rs774200574
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg)
|
rs2113784630
|
|
NM_003998.4(NFKB1):c.730+4A>G
|
rs869320688
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs)
|
rs763231900
|
|
NM_006772.3(SYNGAP1):c.1676+1G>A
|
rs2151172748
|
|
NM_006785.4(MALT1):c.926_929delGAAG
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)
|
rs2140239163
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
|
|
|
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter)
|
rs2128918641
|
|
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)
|
rs764123669
|
|
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_198565.3(NRROS):c.1981del (p.Leu661fs)
|
rs1737685202
|
|