| 基因名 | 突变 |
|---|---|
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24534337C>A,c.3251C>A,p.P1084H |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24534285G>T,c.3199G>T,p.D1067Y |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24534270C>T,c.3184C>T,p.R1062W |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24533539C>A,c.3064C>A,p.L1022M |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24533474G>A,c.2999G>A,p.R1000H |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24531931C>T,c.2582C>T,p.T861I |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24531737T>G,c.2529T>G,p.D843E |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24530821G>A,c.2420G>A,p.R807Q |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24526449A>G,c.1136A>G,p.D379G |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24526213C>T,c.1042C>T,p.L348F |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24526138G>A,c.967G>A,p.G323S |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24522938A>C,c.61A>C,p.S21R |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25619747G>A,c.4052G>A,p.G1351D |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25606459C>T,c.3805C>T,p.R1269W |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25605091G>A,c.3604G>A,p.G1202S |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25600856G>A,c.3434G>A,p.R1145Q |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25600772A>G,c.3350A>G,p.N1117S |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25581495C>T,c.2834C>T,p.A945V |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25556962C>T,c.2626C>T,p.P876S |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25554271G>A,c.2539G>A,p.D847N |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25538188C>A,c.2173C>A,p.R725S |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25538140G>C,c.2125G>C,p.G709R |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25516002A>G,c.1732A>G,p.I578V |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25450163C>T,c.409C>T,p.R137C |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25426768G>A,c.229G>A,p.V77I |
| LRRC16A(NM_017640,leucine rich repeat containing 16A,1371aa) | g.6:25420376C>T,c.173C>T,p.A58V |
| LRRC15(NM_001135057,leucine rich repeat containing 15,587aa) | g.3:194081753A>T,c.38T>A,p.L13H |
| LRRC15(NM_001135057,leucine rich repeat containing 15,587aa) | g.3:194081664C>T,c.127G>A,p.V43M |