NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)
|
rs778043242
|
0.00009
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)
|
rs748950922
|
0.00004
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)
|
rs373962831
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)
|
rs1210874691
|
0.00002
|
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)
|
rs751662952
|
0.00002
|
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)
|
rs1237376396
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)
|
rs137852920
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)
|
rs780268322
|
0.00001
|
NC_000001.10:g.(?_5933292)_(5940319_?)del
|
|
|
NC_000001.10:g.(?_5950908)_(5951108_?)del
|
|
|
NC_000001.10:g.(?_5964657)_(5969293_?)del
|
|
|
NM_015102.5(NPHP4):c.1082_1083dup (p.Tyr362fs)
|
rs2101924403
|
|
NM_015102.5(NPHP4):c.1271del (p.Lys424fs)
|
rs770306587
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.1500del (p.Leu502fs)
|
|
|
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs)
|
|
|
NM_015102.5(NPHP4):c.1704dup (p.Gln569fs)
|
|
|
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)
|
rs113413307
|
|
NM_015102.5(NPHP4):c.1715del (p.Pro572fs)
|
|
|
NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter)
|
rs753774833
|
|
NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)
|
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter)
|
rs2101131514
|
|
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)
|
rs1644833186
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)
|
|
|
NM_015102.5(NPHP4):c.202dup (p.Arg68fs)
|
|
|
NM_015102.5(NPHP4):c.2144-1G>A
|
|
|
NM_015102.5(NPHP4):c.2304+1G>A
|
rs757412845
|
|
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)
|
rs137852919
|
|
NM_015102.5(NPHP4):c.257_258del (p.Pro86fs)
|
|
|
NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter)
|
rs2100733826
|
|
NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter)
|
rs2100678099
|
|
NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)
|
|
|
NM_015102.5(NPHP4):c.2821_2822insT (p.Gln941fs)
|
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)
|
rs398124289
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3083dup (p.Ala1029fs)
|
|
|
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs)
|
|
|
NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)
|
|
|
NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs)
|
|
|
NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter)
|
rs763668545
|
|
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs)
|
rs1474013513
|
|
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)
|
rs2100466824
|
|
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs)
|
rs775221217
|
|
NM_015102.5(NPHP4):c.3506dup (p.Val1170fs)
|
|
|
NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)
|
|
|
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)
|
rs776535691
|
|
NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs)
|
rs2100405990
|
|
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)
|
rs1557580413
|
|
NM_015102.5(NPHP4):c.477del (p.Arg160fs)
|
|
|
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)
|
rs997408852
|
|
NM_015102.5(NPHP4):c.60_61del (p.Arg20fs)
|
rs770357627
|
|
NM_015102.5(NPHP4):c.750dup (p.Ser251fs)
|
rs754862360
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|