| 基因名 | 突变 |
|---|---|
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5935013C>T,c.2965G>A,p.E989K |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5934631C>T,c.3131G>A,p.R1044H |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5934602G>A,c.3160C>T,p.R1054C |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5934601C>T,c.3161G>A,p.R1054H |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5934581C>T,c.3181G>A,p.V1061I |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5933335C>T,c.3292G>A,p.A1098T |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5927943G>A,c.3329C>T,p.A1110V |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5927887C>T,c.3385G>A,p.V1129M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5927169G>A,c.3479C>T,p.P1160L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5926503G>A,c.3574C>T,p.R1192W |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5925292T>C,c.3686A>G,p.Y1229C |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5924071G>A,c.4019C>T,p.A1340V |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:5923369C>T,c.4237G>A,p.D1413N |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132441046C>T,c.154G>A,p.A52T |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132438619G>A,c.449C>T,p.A150V |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132435699G>T,c.725C>A,p.S242Y |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132432006G>C,c.1082C>G,p.S361C |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132427063T>C,c.1157A>G,p.N386S |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132427031G>A,c.1189C>T,p.R397C |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132420367C>T,c.1535G>A,p.R512H |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132420346G>C,c.1556C>G,p.A519G |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132418822del,c.1827del,p.609fs |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132418788C>T,c.1861G>A,p.V621I |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132418279T>G,c.1903A>C,p.M635L |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132415614T>C,c.2132A>G,p.N711S |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132405212C>T,c.3221G>A,p.R1074H |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132403418C>T,c.3550G>A,p.A1184T |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132401603G>C,c.3756C>G,p.S1252R |