NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_014425.5(INVS):c.2068+2T>C
|
rs777556837
|
0.00002
|
NM_015102.5(NPHP4):c.518-2A>G
|
rs761142233
|
0.00002
|
NM_015102.5(NPHP4):c.992+2T>C
|
rs746243637
|
0.00002
|
NM_153240.5(NPHP3):c.2570+1G>T
|
rs1322038132
|
0.00002
|
NM_153240.5(NPHP3):c.393+1G>C
|
rs754332448
|
0.00002
|
NM_001023570.4(IQCB1):c.393+1G>C
|
rs1226321871
|
0.00001
|
NM_001023570.4(IQCB1):c.588-2A>G
|
rs1250919247
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.325_329+7del
|
rs1683656584
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2311-1G>C
|
rs1363032805
|
0.00001
|
NM_153240.5(NPHP3):c.2694-2A>T
|
rs1395411307
|
0.00001
|
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)
|
rs1281725083
|
0.00001
|
NC_000001.10:g.(?_5964816)_(6017448_?)del
|
|
|
NC_000003.11:g.(?_121491404)_(121500721_?)dup
|
|
|
NM_001023570.4(IQCB1):c.101-1G>A
|
rs1372024420
|
|
NM_001023570.4(IQCB1):c.101-1G>T
|
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.394-1G>A
|
|
|
NM_001128178.3(NPHP1):c.1158+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>C
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.1717-1G>T
|
|
|
NM_001128178.3(NPHP1):c.522+1G>A
|
|
|
NM_001128178.3(NPHP1):c.522+1G>C
|
|
|
NM_001128178.3(NPHP1):c.523-2A>C
|
|
|
NM_001128178.3(NPHP1):c.70-1G>T
|
|
|
NM_001128178.3(NPHP1):c.729-1G>C
|
|
|
NM_001128178.3(NPHP1):c.77_143+140del
|
|
|
NM_001128178.3(NPHP1):c.860-2A>G
|
|
|
NM_014425.5(INVS):c.107-1G>A
|
|
|
NM_014425.5(INVS):c.1234+2T>G
|
|
|
NM_014425.5(INVS):c.1464+1G>A
|
rs375753623
|
|
NM_014425.5(INVS):c.1464+1G>T
|
rs375753623
|
|
NM_014425.5(INVS):c.2069-1G>T
|
|
|
NM_014425.5(INVS):c.273+1G>A
|
|
|
NM_014425.5(INVS):c.274-2A>G
|
|
|
NM_014425.5(INVS):c.3104del (p.Gln1035fs)
|
rs2118799345
|
|
NM_014425.5(INVS):c.448-2A>G
|
|
|
NM_014425.5(INVS):c.615+1G>A
|
rs955421639
|
|
NM_014425.5(INVS):c.906+1G>A
|
|
|
NM_014425.5(INVS):c.907-1G>A
|
|
|
NM_015102.5(NPHP4):c.135_135+14del
|
rs1557895715
|
|
NM_015102.5(NPHP4):c.135_135+8del
|
rs2102455183
|
|
NM_015102.5(NPHP4):c.1503+1G>T
|
|
|
NM_015102.5(NPHP4):c.2611+1G>C
|
rs374141736
|
|
NM_015102.5(NPHP4):c.2611+2_2611+3del
|
rs2100733763
|
|
NM_015102.5(NPHP4):c.279+1G>A
|
|
|
NM_015102.5(NPHP4):c.280-1G>C
|
rs1652115764
|
|
NM_015102.5(NPHP4):c.2817+1G>A
|
|
|
NM_015102.5(NPHP4):c.3044+1G>T
|
|
|
NM_015102.5(NPHP4):c.3231+1G>A
|
rs1642345798
|
|
NM_015102.5(NPHP4):c.3473-1G>T
|
rs564232197
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
|
|
|
NM_015102.5(NPHP4):c.452+1G>A
|
|
|
NM_015102.5(NPHP4):c.452+1G>T
|
rs1195128294
|
|
NM_015102.5(NPHP4):c.674-2A>G
|
|
|
NM_015102.5(NPHP4):c.992+1G>T
|
|
|
NM_153240.5(NPHP3):c.1525-2A>G
|
|
|
NM_153240.5(NPHP3):c.1628+2T>A
|
rs1277862520
|
|
NM_153240.5(NPHP3):c.2172-2A>C
|
|
|
NM_153240.5(NPHP3):c.2172-2A>G
|
rs547310372
|
|
NM_153240.5(NPHP3):c.3201+2T>G
|
|
|
NM_153240.5(NPHP3):c.3696_3696+3del
|
|
|