NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
|
rs63751457
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)
|
rs879255300
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3201del (p.Val1068fs)
|
rs864622672
|
|
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs)
|
rs1555283099
|
|
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)
|
rs1555283219
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)
|
rs879255306
|
|
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs)
|
rs2137557686
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)
|
rs1593936980
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
|
rs786204931
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser)
|
rs1262943621
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.103G>T (p.Val35Phe)
|
rs1141387
|
|
NM_000518.5(HBB):c.221_224dup (p.Leu76fs)
|
rs1564875128
|
|
NM_000518.5(HBB):c.316-3C>G
|
rs33913413
|
|
NM_000518.5(HBB):c.431A>G (p.His144Arg)
|
rs33918338
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)
|
rs1553609090
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)
|
rs1395288001
|
|
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)
|
rs149350323
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1553_1565+39del
|
rs1555516191
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)
|
rs1555592671
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
|
rs398124532
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|