NM_001451.3(FOXF1):c.645C>T (p.His215=)
|
rs61740819
|
0.02277
|
NM_001451.3(FOXF1):c.873C>T (p.Ser291=)
|
rs61753347
|
0.01583
|
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)
|
rs151058706
|
0.01345
|
NM_001317778.2(SFTPC):c.43-7G>A
|
rs79440568
|
0.00861
|
NM_001089.3(ABCA3):c.4165-8G>A
|
rs138769732
|
0.00766
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr)
|
rs36210375
|
0.00524
|
NM_001218.5(CA12):c.228C>T (p.Phe76=)
|
rs139241902
|
0.00521
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=)
|
rs112197095
|
0.00477
|
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn)
|
rs200676463
|
0.00467
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg)
|
rs149578279
|
0.00256
|
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)
|
rs145976111
|
0.00214
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)
|
rs147979953
|
0.00121
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_001089.3(ABCA3):c.213C>T (p.Phe71=)
|
rs117515055
|
0.00088
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000492.4(CFTR):c.4243-35del
|
rs193922527
|
|
NM_001018111.3(PODXL):c.66GTCGCC[3] (p.24PS[3])
|
rs11277659
|
|
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)
|
rs876657425
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|