NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
|
rs116938457
|
0.00053
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00020
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)
|
rs111033564
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_020297.4(ABCC9):c.1320+1G>A
|
rs139620148
|
0.00009
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs)
|
rs587780262
|
0.00006
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_002907.4(RECQL):c.426del (p.Met144fs)
|
rs753723230
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)
|
rs772230378
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)
|
rs72658864
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001232.4(CASQ2):c.234+2T>C
|
rs757789935
|
0.00002
|
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)
|
rs748763552
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000229.2(LCAT):c.110C>T (p.Thr37Met)
|
rs971887742
|
0.00001
|
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu)
|
rs1224554825
|
0.00001
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
0.00001
|
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys)
|
rs758324905
|
0.00001
|
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)
|
rs576564400
|
0.00001
|
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)
|
rs980578884
|
0.00001
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu)
|
rs145229963
|
|
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe)
|
rs794728374
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)
|
rs121912515
|
|
NM_000256.3(MYBPC3):c.1624+5G>A
|
rs730880691
|
|
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp)
|
rs730880566
|
|
NM_000256.3(MYBPC3):c.3330+5G>A
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)
|
rs1057517769
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
NM_000256.3(MYBPC3):c.505+1G>A
|
rs730880620
|
|
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)
|
rs727504558
|
|
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly)
|
rs730880760
|
|
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val)
|
rs730880901
|
|
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr)
|
rs730880818
|
|
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys)
|
rs199473287
|
|
NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile)
|
rs1553692822
|
|
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)
|
rs199473326
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
NM_000432.4(MYL2):c.3+1G>T
|
rs730880948
|
|
NM_000432.4(MYL2):c.483C>A (p.His161Gln)
|
rs886039108
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)
|
rs1554392023
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)
|
rs5030833
|
|
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
|
|
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
|
|
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)
|
rs730881141
|
|
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His)
|
rs794728779
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
|
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg)
|
rs267607003
|
|
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])
|
rs761918906
|
|
NM_001267550.2(TTN):c.96310+2T>G
|
rs794729303
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)
|
rs796925245
|
|
NM_001276345.2(TNNT2):c.852-2A>C
|
rs111692981
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)
|
rs1554085372
|
|
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
|
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_002907.4(RECQL):c.120dup (p.Val41fs)
|
rs745659712
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_004415.4(DSP):c.1A>G (p.Met1Val)
|
rs1131691557
|
|
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys)
|
rs1060502042
|
|
NM_004985.5(KRAS):c.183A>C (p.Gln61His)
|
rs17851045
|
|
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
|
rs730880404
|
|
NM_005732.4(RAD50):c.1793+4A>C
|
rs863224738
|
|
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu)
|
rs1963334413
|
|
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
|
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)
|
rs1555225958
|
|
NM_007294.4(BRCA1):c.4357+6T>C
|
rs80358143
|
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
|
|
NM_015450.3(POT1):c.809G>A (p.Ser270Asn)
|
rs587777477
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_144573.4(NEXN):c.461_464del (p.Asn154fs)
|
rs794729088
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
Single allele
|
|
|