| 基因名 | 突变 |
|---|---|
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40399693C>G,c.1160G>C,p.S387T |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40399582C>G,c.1271G>C,p.R424P |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40360265G>A,c.1787C>T,p.P596L |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40360248C>T,c.1804G>A,p.V602M |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40360200C>T,c.1852G>A,p.A618T |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40360110G>A,c.1942C>T,p.R648C |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40359827T>C,c.2225A>G,p.Y742C |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40359816G>A,c.2236C>T,p.R746W |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40359744C>T,c.2308G>A,p.D770N |
| LRFN2(NM_020737,leucine rich repeat and fibronectin type III domain containing 2,789aa) | g.6:40359723T>C,c.2329A>G,p.T777A |
| LRFN1(NM_020862,leucine rich repeat and fibronectin type III domain containing 1,771aa) | g.19:39805871C>T,c.106G>A,p.G36S |
| LRFN1(NM_020862,leucine rich repeat and fibronectin type III domain containing 1,771aa) | g.19:39805246G>A,c.731C>T,p.P244L |
| LRFN1(NM_020862,leucine rich repeat and fibronectin type III domain containing 1,771aa) | g.19:39798368C>T,c.2221G>A,p.G741S |
| LRCOL1(NM_001195520,leucine rich colipase-like 1,159aa) | g.12:133182818G>A,c.20C>T,p.T7M |
| LRCOL1(NM_001195520,leucine rich colipase-like 1,159aa) | g.12:133181399T>C,c.124A>G,p.R42G |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100183609C>T,c.115G>A,p.E39K |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100180073C>T,c.230G>A,p.R77Q |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100179414C>A,c.584G>T,p.S195I |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100176362C>T,c.646G>A,p.V216I |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100175877C>G,c.853G>C,p.A285P |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100175462C>T,c.1022G>A,p.R341H |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100175010C>T,c.1181G>A,p.R394Q |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100174951G>A,c.1240C>T,p.R414W |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100172858C>T,c.1924G>A,p.V642M |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100172813A>G,c.1969T>C,p.S657P |
| LRCH4(NM_002319,leucine-rich repeats and calponin homology (CH) domain containing 4,683aa) | g.7:100172783C>T,c.1999G>A,p.V667M |
| LRCH3(NM_032773,leucine-rich repeats and calponin homology (CH) domain containing 3,712aa) | g.3:197597144C>T,c.1987C>T,p.R663C |
| LRCH3(NM_032773,leucine-rich repeats and calponin homology (CH) domain containing 3,712aa) | g.3:197597101T>A,c.1944T>A,p.N648K |