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_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
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.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
|
rs1799061745
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)
|
rs1791967656
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
|
rs1799216615
|
|
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)
|
rs397508762
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
|
|
|