NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_004793.4(LONP1):c.2203G>A (p.Val735Met)
|
rs200317240
|
0.00018
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
NM_006295.3(VARS1):c.2086G>C (p.Gly696Arg)
|
rs754688832
|
0.00009
|
NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu)
|
rs565444145
|
0.00008
|
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg)
|
rs746641607
|
0.00007
|
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)
|
rs768180795
|
0.00005
|
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)
|
rs138249238
|
0.00004
|
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg)
|
rs765321518
|
0.00004
|
NM_001368894.2(PAX6):c.1074+139C>T
|
rs1019883076
|
0.00003
|
NM_203290.4(POLR1C):c.32G>A (p.Arg11Gln)
|
rs772728540
|
0.00003
|
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln)
|
rs201878879
|
0.00002
|
NM_001364905.1(LRBA):c.5324C>G (p.Ala1775Gly)
|
rs552415217
|
0.00002
|
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln)
|
rs757110456
|
0.00002
|
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)
|
rs750346960
|
0.00002
|
NM_152743.4(BRAT1):c.232C>T (p.Arg78Cys)
|
rs759508345
|
0.00002
|
NM_000631.5(NCF4):c.908T>G (p.Val303Gly)
|
rs762012398
|
0.00001
|
NM_000642.3(AGL):c.872A>G (p.Asp291Gly)
|
rs555262805
|
0.00001
|
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)
|
rs760677132
|
0.00001
|
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu)
|
rs548219603
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser)
|
rs756757241
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_002085.5(GPX4):c.536G>A (p.Arg179His)
|
rs763745871
|
0.00001
|
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp)
|
rs370763975
|
0.00001
|
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)
|
rs529613640
|
0.00001
|
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)
|
rs563710728
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu)
|
rs1307746359
|
0.00001
|
NM_022445.4(TPK1):c.620A>T (p.Asp207Val)
|
rs747262651
|
0.00001
|
NM_139075.4(TPCN2):c.580T>C (p.Phe194Leu)
|
rs554622608
|
0.00001
|
NM_198576.4(AGRN):c.5824C>T (p.Arg1942Cys)
|
rs748598591
|
0.00001
|
NC_000004.12:g.[10273397T>C;10322896G>C]
|
|
|
NC_000007.14:g.26263639_26335651delinsCA
|
|
|
NM_000069.3(CACNA1S):c.4316G>T (p.Cys1439Phe)
|
rs2102555595
|
|
NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)
|
|
|
NM_000138.5(FBN1):c.2419+3delinsTTTTAGATCCATATTTTAG
|
rs2141304945
|
|
NM_000153.4(GALC):c.1338+16A>G
|
|
|
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)
|
rs1559532562
|
|
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)
|
rs1575520937
|
|
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs)
|
rs2133728495
|
|
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)
|
rs1697636883
|
|
NM_000448.3(RAG1):c.2917C>A (p.Arg973Ser)
|
rs1389614116
|
|
NM_000521.4(HEXB):c.880C>T (p.His294Tyr)
|
rs2112171970
|
|
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr)
|
rs1749649940
|
|
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)
|
rs762118198
|
|
NM_001005373.4(LRSAM1):c.2111G>T (p.Arg704Leu)
|
|
|
NM_001015880.2(PAPSS2):c.1445TTG[1] (p.Val483del)
|
rs2131731328
|
|
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)
|
rs1554286093
|
|
NM_001032221.6(STXBP1):c.1359+5G>A
|
rs2131513670
|
|
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)
|
|
|
NM_001063.4(TF):c.2063-11_2063-10del
|
rs2107937266
|
|
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys)
|
rs2128312068
|
|
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)
|
rs2137603390
|
|
NM_001128178.3(NPHP1):c.1352+5G>A
|
rs1681080526
|
|
NM_001159773.2(CANT1):c.631+11C>A
|
rs2145839791
|
|
NM_001203.3(BMPR1B):c.-17-52823C>T
|
|
|
NM_001203.3(BMPR1B):c.1252+410A>G
|
|
|
NM_001205.3(BNIP1):c.84+3A>T
|
rs2113831423
|
|
NM_001243279.3(ACSF3):c.1367-464C>T
|
rs2151560692
|
|
NM_001270974.2(HYDIN):c.8638_8658dup (p.Glu2880_Leu2886dup)
|
rs2143763196
|
|
NM_001291303.3(FAT4):c.12479+3A>G
|
rs2126083898
|
|
NM_001318510.2(ACSL4):c.151AAG[1] (p.Lys52del)
|
rs2147449571
|
|
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser)
|
|
|
NM_001375.3(DNASE2):c.157T>C (p.Tyr53His)
|
|
|
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)
|
rs1791432323
|
|
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr)
|
rs2134994345
|
|
NM_001378457.1(DMXL2):c.352T>C (p.Trp118Arg)
|
|
|
NM_001382347.1(MYO5A):c.656G>A (p.Arg219His)
|
|
|
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)
|
rs188211202
|
|
NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro)
|
rs2107121791
|
|
NM_001783.4(CD79A):c.374T>G (p.Val125Gly)
|
rs2123304410
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_002615.7(SERPINF1):c.-37C>A
|
|
|
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
|
|
|
NM_002778.4(PSAP):c.353T>C (p.Leu118Pro)
|
|
|
NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)
|
|
|
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
|
|
|
NM_003401.5(XRCC4):c.140-13A>G
|
|
|
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln)
|
rs2105837625
|
|
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)
|
rs2105912786
|
|
NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)
|
|
|
NM_004239.4(TRIP11):c.5343-314T>C
|
|
|
NM_004371.4(COPA):c.3248G>A (p.Arg1083His)
|
rs141211632
|
|
NM_004530.6(MMP2):c.1229G>T (p.Gly410Val)
|
rs2142358782
|
|
NM_004793.4(LONP1):c.488A>C (p.Tyr163Ser)
|
rs2055279214
|
|
NM_004813.4(PEX16):c.952+3A>G
|
|
|
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro)
|
rs1452719895
|
|
NM_004897.5(MINPP1):c.1008C>G (p.Ser336Arg)
|
rs2131815066
|
|
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del)
|
rs1302128286
|
|
NM_005450.6(NOG):c.101G>C (p.Arg34Pro)
|
|
|
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
|
|
|
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
|
|
|
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)
|
|
|
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)
|
|
|
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)
|
rs1657192119
|
|
NM_006295.3(VARS1):c.3695C>A (p.Pro1232Gln)
|
rs1472868752
|
|
NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis)
|
rs1131692160
|
|
NM_006556.4(PMVK):c.398C>T (p.Ala133Val)
|
|
|
NM_006846.4(SPINK5):c.1010+7A>G
|
rs2113105960
|
|
NM_006901.4(MYO9A):c.6419A>G (p.Asp2140Gly)
|
|
|
NM_006901.4(MYO9A):c.7224G>C (p.Lys2408Asn)
|
|
|
NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)
|
rs1569171143
|
|
NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp)
|
|
|
NM_012262.4(HS2ST1):c.251C>T (p.Thr84Met)
|
|
|
NM_013265.4(VPS51):c.419CCA[1] (p.Thr141del)
|
rs1565313895
|
|
NM_013432.5(TONSL):c.122-7C>G
|
rs2129704572
|
|
NM_013432.5(TONSL):c.1471_1472del (p.Ser491fs)
|
rs2129675776
|
|
NM_013432.5(TONSL):c.1986GCT[1] (p.Leu664del)
|
rs745362266
|
|
NM_013432.5(TONSL):c.521G>A (p.Ser174Asn)
|
rs1188878572
|
|
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr)
|
rs1227213671
|
|
NM_014727.3(KMT2B):c.5821G>A (p.Val1941Met)
|
|
|
NM_014738.6(TMEM94):c.1970_1974dup (p.Pro659fs)
|
rs2146765869
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015465.5(GEMIN5):c.4378G>A (p.Val1460Met)
|
rs1561705504
|
|
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)
|
rs1401777461
|
|
NM_015909.4(NBAS):c.886-3C>G
|
rs765170132
|
|
NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val)
|
rs773583668
|
|
NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg)
|
rs761982198
|
|
NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)
|
|
|
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)
|
rs2103862688
|
|
NM_016123.4(IRAK4):c.169G>A (p.Glu57Lys)
|
|
|
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro)
|
rs1943259006
|
|
NM_016373.4(WWOX):c.172+5G>A
|
|
|
NM_017662.5(TRPM6):c.3537-348A>G
|
|
|
NM_018052.5(VAC14):c.1927C>T (p.Arg643Trp)
|
rs2142991592
|
|
NM_018116.4(MSTO1):c.422-3C>G
|
rs2148988026
|
|
NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del)
|
rs2148196864
|
|
NM_020435.4(GJC2):c.104G>A (p.Arg35His)
|
|
|
NM_020435.4(GJC2):c.148G>A (p.Glu50Lys)
|
rs1255327063
|
|
NM_020771.4(HACE1):c.1346C>G (p.Ala449Gly)
|
rs2114797044
|
|
NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val)
|
rs763378243
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro)
|
rs878852984
|
|
NM_024312.5(GNPTAB):c.1134C>G (p.Ser378Arg)
|
rs2137123702
|
|
NM_024884.3(L2HGDH):c.908T>A (p.Val303Asp)
|
rs2139977737
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp)
|
rs2106328613
|
|
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr)
|
rs2111088217
|
|
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)
|
rs2135652409
|
|
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
|
|
|
NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg)
|
rs1831978153
|
|
NM_032888.4(COL27A1):c.[295G>A;3056C>A]
|
|
|
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
|
|
|
NM_133368.3(RSPRY1):c.1652G>A (p.Cys551Tyr)
|
rs2146410648
|
|
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)
|
rs2144135649
|
|
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro)
|
rs1485073209
|
|
NM_144596.4(TTC8):c.265+5G>A
|
rs2094770219
|
|
NM_144687.4(NLRP12):c.1028G>A (p.Arg343Gln)
|
|
|
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)
|
rs1562582216
|
|
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)
|
|
|
NM_153218.4(LACC1):c.832G>C (p.Ala278Pro)
|
rs774376052
|
|
NM_173630.4(RTTN):c.4438C>T (p.Leu1480Phe)
|
rs773407722
|
|
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp)
|
rs2151493922
|
|