| 基因名 | 突变 |
|---|---|
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117171053T>C,c.374T>C,p.I125T |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117149147G>A,c.224G>A,p.R75Q |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117149143C>T,c.220C>T,p.R74W |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117144344C>T,c.91C>T,p.R31C |
| CFP(NM_002621,complement factor properdin,469aa) | g.X:47489029C>T,c.121G>A,p.G41S |
| CFP(NM_002621,complement factor properdin,469aa) | g.X:47488993C>T,c.157G>A,p.V53M |
| CFP(NM_002621,complement factor properdin,469aa) | g.X:47487513G>C,c.391C>G,p.Q131E |
| CFP(NM_002621,complement factor properdin,469aa) | g.X:47486558C>T,c.748G>A,p.G250S |
| CFLAR(NM_001202519,CASP8 and FADD-like apoptosis regulator,366aa) | g.2:202027777G>A,c.1075G>A,p.G359R |
| CFLAR(NM_001202519,CASP8 and FADD-like apoptosis regulator,366aa) | g.2:202025488A>T,c.839A>T,p.D280V |
| CFLAR(NM_001202519,CASP8 and FADD-like apoptosis regulator,366aa) | g.2:202010101C>A,c.319C>A,p.L107I |
| CFL2(NM_138638,cofilin 2 (muscle),166aa) | g.14:35182602C>T,c.169G>A,p.V57M |
| CFI(NM_000204,complement factor I,583aa) | g.4:110687728C>T,c.310G>A,p.G104R |
| CFI(NM_000204,complement factor I,583aa) | g.4:110681720A>C,c.731T>G,p.I244S |
| CFI(NM_000204,complement factor I,583aa) | g.4:110681527C>T,c.782G>A,p.G261D |
| CFI(NM_000204,complement factor I,583aa) | g.4:110678925T>C,c.898A>G,p.T300A |
| CFI(NM_000204,complement factor I,583aa) | g.4:110667590C>T,c.1217G>A,p.R406H |
| CFI(NM_000204,complement factor I,583aa) | g.4:110667573C>T,c.1234G>A,p.V412M |
| CFI(NM_000204,complement factor I,583aa) | g.4:110667561T>G,c.1246A>C,p.I416L |
| CFI(NM_000204,complement factor I,583aa) | g.4:110667485T>C,c.1322A>G,p.K441R |
| CFI(NM_000204,complement factor I,583aa) | g.4:110662092C>G,c.1709G>C,p.S570T |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196977807T>A,c.1704T>A,p.C568X |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196977644T>G,c.1541T>G,p.M514R |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196973872G>A,c.1412G>A,p.G471E |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196973817C>T,c.1357C>T,p.P453S |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196973814C>T,c.1354C>T,p.P452S |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196971619G>T,c.1155G>T,p.R385S |
| CFHR5(NM_030787,complement factor H-related 5,569aa) | g.1:196967354G>A,c.1067G>A,p.R356H |