NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00774
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_006079.5(CITED2):c.479A>T (p.His160Leu)
|
rs111814036
|
0.00211
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_000815.5(GABRD):c.775G>A (p.Val259Ile)
|
rs148908731
|
0.00042
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
|
rs753351853
|
0.00003
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
NM_000348.4(SRD5A2):c.446-10_446-8del
|
rs758063160
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)
|
rs757979350
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|