| 基因名 | 突变 |
|---|---|
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:551161G>A,c.655G>A,p.V219M |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:550192C>A,c.544C>A,p.Q182K |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:549946C>T,c.371C>T,p.A124V |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:541601G>C,c.242G>C,p.R81P |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:541550G>A,c.191G>A,p.R64Q |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:540719G>A,c.35G>A,p.R12Q |
| LRRC56(NM_198075,leucine rich repeat containing 56,542aa) | g.11:540709C>A,c.25C>A,p.R9S |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56954894del,c.966del,p.322fs |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56954767C>T,c.839C>T,p.P280L |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56950146G>A,c.779G>A,p.R260H |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56949691G>A,c.324G>A,p.M108I |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56949600G>A,c.233G>A,p.G78D |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56949587C>T,c.220C>T,p.H74Y |
| LRRC55(NM_001005210,leucine rich repeat containing 55,341aa) | g.11:56949559C>G,c.192C>G,p.I64M |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165533009G>A,c.890G>A,p.R297Q |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165532948C>T,c.829C>T,p.R277C |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165532746T>A,c.627T>A,p.D209E |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165514014G>A,c.481G>A,p.G161S |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165513935C>G,c.402C>G,p.N134K |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165513898C>T,c.365C>T,p.S122L |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165513849C>T,c.316C>T,p.L106F |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165513742C>T,c.209C>T,p.A70V |
| LRRC52(NM_001005214,leucine rich repeat containing 52,313aa) | g.1:165513641A>T,c.108A>T,p.E36D |
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127669969C>T,c.725G>A,p.S242N |
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127669960T>C,c.734A>G,p.K245R |
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127669499G>A,c.1195C>T,p.P399S |
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127669206C>G,c.1488G>C,p.Q496H |
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127668794T>C,c.1900A>G,p.I634V |