NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)
|
rs1276867493
|
0.00003
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1585-7G>A
|
rs1367201083
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys)
|
rs1196851290
|
0.00001
|
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile)
|
rs187318937
|
0.00001
|
NM_000492.4(CFTR):c.1632T>G (p.Gly544=)
|
rs767846505
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)
|
rs1791967656
|
0.00001
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
NM_000492.4(CFTR):c.1674A>G (p.Leu558=)
|
rs770896561
|
0.00001
|
NM_000492.4(CFTR):c.1585-15T>G
|
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
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NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
|
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
|
|
|
NM_000492.4(CFTR):c.1605G>A (p.Glu535=)
|
|
|
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
|
|
|
NM_000492.4(CFTR):c.1611C>T (p.Asp537=)
|
|
|
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
|
|
|
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
|
|
|
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
|
|
|
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
|
|
|
NM_000492.4(CFTR):c.1638C>T (p.Ile546=)
|
rs1476532238
|
|
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
|
|
|
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
|
|
|
NM_000492.4(CFTR):c.1644G>T (p.Leu548=)
|
|
|
NM_000492.4(CFTR):c.1647T>C (p.Ser549=)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656A>G (p.Gln552=)
|
|
|
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)
|
rs74597325
|
|
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
|
|
|
NM_000492.4(CFTR):c.1662A>G (p.Ala554=)
|
|
|
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
|
|
|
NM_000492.4(CFTR):c.1668T>C (p.Ile556=)
|
rs1232726281
|
|
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
|
|
|
NM_000492.4(CFTR):c.1679+11A>G
|
|
|
NM_000492.4(CFTR):c.1679+17T>C
|
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|