NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)
|
rs139084702
|
0.00200
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
|
rs116506614
|
0.00073
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)
|
rs528448732
|
0.00048
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter)
|
rs376963628
|
0.00029
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter)
|
rs929548279
|
0.00024
|
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser)
|
rs145379710
|
0.00021
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)
|
rs121913560
|
0.00016
|
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu)
|
rs189928649
|
0.00016
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)
|
rs200035428
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)
|
rs148562777
|
0.00012
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter)
|
rs377639405
|
0.00011
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)
|
rs371672410
|
0.00009
|
NM_005560.6(LAMA5):c.3728C>T (p.Pro1243Leu)
|
rs756101090
|
0.00009
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_019616.4(F7):c.781C>T (p.Arg261Trp)
|
rs779589651
|
0.00008
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp)
|
rs17848368
|
0.00007
|
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)
|
rs772570880
|
0.00006
|
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)
|
rs369238198
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)
|
rs779942952
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)
|
rs374694591
|
0.00004
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys)
|
rs142405670
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter)
|
rs145160045
|
0.00003
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_177972.3(TUB):c.1387+1G>A
|
rs1040410003
|
0.00002
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000069.3(CACNA1S):c.3414+3A>T
|
rs892742196
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr)
|
rs749519562
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg)
|
rs1380227293
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)
|
rs121913561
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
0.00001
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)
|
rs1060499640
|
|
NM_000216.4(ANOS1):c.515G>A (p.Cys172Tyr)
|
rs1930749813
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000275.3(OCA2):c.1275_1277del (p.Met425del)
|
rs752510351
|
|
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp)
|
rs1659540498
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)
|
rs730881078
|
|
NM_000372.5(TYR):c.547G>A (p.Val183Met)
|
rs141930049
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000531.6(OTC):c.793T>C (p.Trp265Arg)
|
rs72558445
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro)
|
rs193922874
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
|
rs767343838
|
|
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly)
|
rs118192178
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg)
|
rs2150362649
|
|
NM_001098.3(ACO2):c.487G>T (p.Val163Leu)
|
rs759920667
|
|
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)
|
rs768413190
|
|
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)
|
rs119103281
|
|
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)
|
rs786205724
|
|
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr)
|
rs2136213384
|
|
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs)
|
rs1279657093
|
|
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
|
|
|
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
|
|
|
NM_001370259.2(MEN1):c.1050-3C>G
|
|
|
NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile)
|
rs1057520694
|
|
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)
|
rs1553396458
|
|
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg)
|
rs587777622
|
|
NM_001852.4(COL9A2):c.1242del (p.Gly415fs)
|
rs756694568
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
NM_001939.3(DRP2):c.1006C>T (p.Gln336Ter)
|
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met)
|
rs757666530
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn)
|
rs1060500107
|
|
NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys)
|
rs886044568
|
|
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)
|
|
|
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter)
|
rs1565975090
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2091dup (p.Phe699fs)
|
rs752846614
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006891.4(CRYGD):c.176G>A (p.Arg59His)
|
rs121909596
|
|
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe)
|
rs1356658811
|
|
NM_014264.5(PLK4):c.2209_2210del (p.Glu737fs)
|
|
|
NM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu)
|
|
|
NM_016239.4(MYO15A):c.92del (p.Lys31fs)
|
|
|
NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)
|
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
NM_147196.3(TMIE):c.211+1G>C
|
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter)
|
rs2122537652
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)
|
rs587780341
|
|
UGT1A1*37
|
rs3064744
|
|