| 基因名 | 突变 |
|---|---|
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71357028G>A,c.845G>A,p.R282Q |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71354380G>A,c.586G>A,p.E196K |
| NHSL2(NM_001013627,NHS-like 2,1225aa) | g.X:71131125G>A,c.188G>A,p.R63H |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138892987C>T,c.62G>A,p.R21H |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138794490G>A,c.436C>T,p.P146S |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138768300A>C,c.514T>G,p.F172V |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138754730C>T,c.764G>A,p.R255Q |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138754715C>T,c.779G>A,p.R260H |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138754449C>T,c.1045G>A,p.G349S |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138754058T>C,c.1436A>G,p.H479R |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138754056C>T,c.1438G>A,p.A480T |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138753924A>C,c.1570T>G,p.C524G |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138753822C>G,c.1672G>C,p.E558Q |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138753437C>A,c.2057G>T,p.R686L |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138753221G>C,c.2273C>G,p.P758R |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138753051C>T,c.2443G>A,p.G815R |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752889C>T,c.2605G>A,p.V869M |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752841G>A,c.2653C>T,p.P885S |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752429G>A,c.3065C>T,p.S1022L |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752241C>T,c.3253G>A,p.V1085M |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752066G>A,c.3428C>T,p.P1143L |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138752051C>G,c.3443G>C,p.S1148T |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138751629G>C,c.3865C>G,p.P1289A |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138750915C>T,c.4030G>A,p.G1344R |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138745442C>T,c.4609G>A,p.V1537M |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138745322C>G,c.4729G>C,p.A1577P |
| NHSL1(NM_020464,NHS-like 1,1610aa) | g.6:138745298C>T,c.4753G>A,p.G1585S |
| NHP2(NM_017838,NHP2 ribonucleoprotein,153aa) | g.5:177580676T>C,c.143A>G,p.Y48C |