NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)
|
rs150975627
|
0.00217
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro)
|
rs144606661
|
0.00213
|
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter)
|
rs104894319
|
0.00194
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_000213.5(ITGB4):c.3112-3C>T
|
rs151033645
|
0.00138
|
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val)
|
rs76977934
|
0.00126
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)
|
rs150531914
|
0.00048
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)
|
rs145668112
|
0.00026
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
NM_001303.4(COX10):c.624+4A>G
|
rs199668725
|
0.00017
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
NM_152713.5(STT3A):c.615+6T>C
|
rs767197223
|
0.00012
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met)
|
rs1301772452
|
0.00008
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=)
|
rs373022042
|
0.00007
|
NM_004606.5(TAF1):c.3227+8G>A
|
rs373273976
|
0.00005
|
NM_002755.4(MAP2K1):c.693+10G>A
|
rs377034924
|
0.00003
|
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)
|
rs758194735
|
0.00003
|
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073
|
0.00002
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr)
|
rs1467982801
|
0.00001
|
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser)
|
rs797045273
|
0.00001
|
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=)
|
rs145357714
|
0.00001
|
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)
|
rs577018955
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)
|
rs369557944
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
|
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
|
|
|
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
|
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)
|
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His)
|
rs2124103896
|
|
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)
|
|
|
NM_017934.7(PHIP):c.187C>T (p.Leu63=)
|
rs1774230017
|
|
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu)
|
rs1799386566
|
|