NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
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_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)
|
rs113032343
|
0.00003
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
|
rs1582764697
|
|
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg)
|
rs2140111252
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe)
|
rs372732702
|
|
Single allele
|
|
|