| 基因名 | 突变 |
|---|---|
| NFATC1(NM_001278669,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,943aa) | g.18:77171135C>T,c.860C>T,p.P287L |
| NFATC1(NM_001278669,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,943aa) | g.18:77171089G>A,c.814G>A,p.G272S |
| NFATC1(NM_001278669,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,943aa) | g.18:77170535C>T,c.260C>T,p.S87L |
| NFATC1(NM_001278669,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,943aa) | g.18:77170505C>T,c.230C>T,p.P77L |
| NFATC1(NM_001278669,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,943aa) | g.18:77170477C>A,c.202C>A,p.P68T |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69729182G>T,c.4276G>T,p.A1426S |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69727480A>G,c.3470A>G,p.Q1157R |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69726015C>A,c.2005C>A,p.P669T |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69725697T>G,c.1687T>G,p.S563A |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69718796C>G,c.1415C>G,p.A472G |
| NFAT5(NM_138714,nuclear factor of activated T-cells 5, tonicity-responsive,1455aa) | g.16:69681147A>T,c.188A>T,p.H63L |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204978703C>T,c.3308C>T,p.A1103V |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204966475C>T,c.2960C>T,p.A987V |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204966474G>A,c.2959G>A,p.A987T |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204966428C>G,c.2913C>G,p.I971M |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204957844G>A,c.2677G>A,p.V893M |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204957824C>T,c.2657C>T,p.T886M |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204951124G>A,c.2446G>A,p.V816I |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204948583G>A,c.2072G>A,p.R691Q |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204945917G>A,c.1825G>A,p.V609M |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204944536A>G,c.1696A>G,p.I566V |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204944441G>A,c.1601G>A,p.R534K |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204944425G>A,c.1585G>A,p.E529K |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204943871A>G,c.1478A>G,p.K493R |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204943844G>A,c.1451G>A,p.G484D |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204943333C>T,c.1306C>T,p.R436W |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204937930A>G,c.823A>G,p.T275A |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204924020C>T,c.476C>T,p.T159M |