NM_001128178.3(NPHP1):c.1269+274G>T
|
rs3789732
|
0.38096
|
NM_001128178.3(NPHP1):c.1159-304G>A
|
rs1848682
|
0.38073
|
NM_001128178.3(NPHP1):c.1159-61C>T
|
rs1509417
|
0.38064
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_001128178.3(NPHP1):c.1642+148G>A
|
rs11240790
|
0.30290
|
NM_001128178.3(NPHP1):c.1529+224C>T
|
rs2864665
|
0.30268
|
NM_001128178.3(NPHP1):c.955-339A>G
|
rs17842678
|
0.29046
|
NM_001128178.3(NPHP1):c.329+133T>C
|
rs2271245
|
0.29031
|
NM_001128178.3(NPHP1):c.1159-140A>T
|
rs1509416
|
0.28985
|
NM_001128178.3(NPHP1):c.860-47G>A
|
rs2271244
|
0.28919
|
NM_001128178.3(NPHP1):c.625-329C>T
|
rs17842675
|
0.28208
|
NM_001128178.3(NPHP1):c.204+100G>A
|
rs11898910
|
0.14809
|
NC_000002.12:g.110205149G>A
|
rs3789726
|
0.08105
|
NM_001128178.3(NPHP1):c.1353-47T>C
|
rs1509419
|
0.07914
|
NM_001128178.3(NPHP1):c.771+423C>T
|
rs78206992
|
0.07906
|
NM_001128178.3(NPHP1):c.1084-208C>A
|
rs74882894
|
0.06754
|
NM_001128178.3(NPHP1):c.1083+77T>G
|
rs10174448
|
0.06753
|
NM_001128178.3(NPHP1):c.955-237C>G
|
rs17842679
|
0.04646
|
NM_001128178.3(NPHP1):c.1529+38T>A
|
rs17842686
|
0.04645
|
NM_001128178.3(NPHP1):c.860-34T>A
|
rs979376
|
0.04643
|
NM_001128178.3(NPHP1):c.523-328T>C
|
rs72826897
|
0.03550
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_001128178.3(NPHP1):c.143+73G>T
|
rs35810959
|
0.02725
|
NM_001128178.3(NPHP1):c.1269+240A>C
|
rs73954620
|
0.02685
|
NM_001128178.3(NPHP1):c.329+76C>T
|
rs111454868
|
0.01491
|
NM_001128178.3(NPHP1):c.1762-96C>T
|
rs79332992
|
0.01468
|
NM_001128178.3(NPHP1):c.772-118C>T
|
rs78967435
|
0.01466
|
NM_001128178.3(NPHP1):c.859+34A>C
|
rs79943015
|
0.01461
|
NM_001128178.3(NPHP1):c.1269+335T>C
|
rs17842684
|
0.01297
|
NM_001128178.3(NPHP1):c.860-210A>G
|
rs189349107
|
0.01194
|
NM_001128178.3(NPHP1):c.1269+170G>A
|
rs17842682
|
0.01141
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_001128178.3(NPHP1):c.1352+130T>C
|
rs17842685
|
0.01138
|
NM_001128178.3(NPHP1):c.860-285A>C
|
rs17842677
|
0.01138
|
NM_001128178.3(NPHP1):c.329+88T>G
|
rs17842672
|
0.01136
|
NM_001128178.3(NPHP1):c.205-145A>G
|
rs112623366
|
0.01133
|
NM_001128178.3(NPHP1):c.1529+19C>T
|
rs112090979
|
0.01096
|
NM_001128178.3(NPHP1):c.329+139G>T
|
rs113684207
|
0.01071
|
NM_001128178.3(NPHP1):c.772-17G>A
|
rs146343637
|
0.00862
|
NM_001128178.3(NPHP1):c.1353-58C>T
|
rs1509418
|
0.00585
|
NM_001128178.3(NPHP1):c.771+313C>T
|
rs146460084
|
0.00581
|
NM_001128178.3(NPHP1):c.329+291T>C
|
rs17842673
|
0.00579
|
NM_001128178.3(NPHP1):c.1642+197C>T
|
rs76478851
|
0.00412
|
NM_001128178.3(NPHP1):c.1159-347C>T
|
rs150098708
|
0.00389
|
NM_001128178.3(NPHP1):c.523-323G>A
|
rs114292676
|
0.00381
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_001128178.3(NPHP1):c.1643-46T>C
|
rs116329819
|
0.00310
|
NM_001128178.3(NPHP1):c.624+48G>A
|
rs116733998
|
0.00310
|
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)
|
rs145479679
|
0.00211
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00059
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser)
|
rs373915635
|
0.00029
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=)
|
rs144217506
|
0.00021
|
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val)
|
rs144088139
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001128178.3(NPHP1):c.771+33G>A
|
rs751388694
|
0.00017
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)
|
rs201460699
|
0.00012
|
NM_001128178.3(NPHP1):c.*1C>T
|
rs376898832
|
0.00010
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00009
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00006
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val)
|
rs750291966
|
0.00005
|
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)
|
rs567306113
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00004
|
NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr)
|
rs780578104
|
0.00004
|
NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile)
|
rs375386218
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=)
|
rs200521790
|
0.00003
|
NM_001128178.3(NPHP1):c.205-3T>C
|
rs974400100
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
0.00003
|
NM_001128178.3(NPHP1):c.771+38G>T
|
rs764086072
|
0.00003
|
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)
|
rs368025611
|
0.00002
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00002
|
NM_001128178.3(NPHP1):c.1643-3C>T
|
rs202167187
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.385_387del (p.Ser129del)
|
rs753643526
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=)
|
rs775869913
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001128178.3(NPHP1):c.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
0.00001
|
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val)
|
rs141786398
|
0.00001
|
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val)
|
rs778619698
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)
|
rs1473345628
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=)
|
rs1253817401
|
0.00001
|
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys)
|
rs772166657
|
0.00001
|
NM_001128178.3(NPHP1):c.555A>G (p.Lys185=)
|
rs749606788
|
0.00001
|
NM_001128178.3(NPHP1):c.645A>C (p.Glu215Asp)
|
rs760469889
|
0.00001
|
NM_001128178.3(NPHP1):c.6G>C (p.Leu2=)
|
rs1217380152
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser)
|
rs1212929849
|
0.00001
|
GRCh37/hg19 2q13(chr2:110881368-110962545)x0
|
|
|
GRCh37/hg19 2q13(chr2:110881368-110962545)x1
|
|
|
NM_001128178.3(NPHP1):c.*206C>G
|
|
|
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)
|
rs398123285
|
|
NM_001128178.3(NPHP1):c.1083+3657G>A
|
|
|
NM_001128178.3(NPHP1):c.1083+9A>G
|
rs1574117534
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1301G>T (p.Gly434Val)
|
|
|
NM_001128178.3(NPHP1):c.1315A>G (p.Lys439Glu)
|
|
|
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu)
|
rs2104492226
|
|
NM_001128178.3(NPHP1):c.1353-116C>T
|
rs3752863
|
|
NM_001128178.3(NPHP1):c.1353-95_1353-90del
|
rs138809408
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg)
|
|
|
NM_001128178.3(NPHP1):c.1429+7C>T
|
rs1553484063
|
|
NM_001128178.3(NPHP1):c.1429+9C>G
|
rs1163657756
|
|
NM_001128178.3(NPHP1):c.143+1G>A
|
rs745806504
|
|
NM_001128178.3(NPHP1):c.1430-8C>G
|
rs750113370
|
|
NM_001128178.3(NPHP1):c.1513T>C (p.Ser505Pro)
|
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
NM_001128178.3(NPHP1):c.1530-9C>T
|
rs1166587245
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=)
|
rs398123286
|
|
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu)
|
rs1559045921
|
|
NM_001128178.3(NPHP1):c.1592A>G (p.Gln531Arg)
|
|
|
NM_001128178.3(NPHP1):c.1613T>C (p.Leu538Pro)
|
rs1559045906
|
|
NM_001128178.3(NPHP1):c.1643-302A>C
|
rs2271242
|
|
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser)
|
rs746510153
|
|
NM_001128178.3(NPHP1):c.1716+76_1716+77insGTCATCTG
|
rs3838315
|
|
NM_001128178.3(NPHP1):c.1716+7A>G
|
rs1445032611
|
|
NM_001128178.3(NPHP1):c.1762-486C>G
|
|
|
NM_001128178.3(NPHP1):c.1762-6del
|
|
|
NM_001128178.3(NPHP1):c.1786A>G (p.Thr596Ala)
|
|
|
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His)
|
rs566866150
|
|
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr)
|
rs886043591
|
|
NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del)
|
rs769266828
|
|
NM_001128178.3(NPHP1):c.1872T>A (p.Thr624=)
|
rs1574045410
|
|
NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg)
|
rs760619900
|
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
|
NM_001128178.3(NPHP1):c.210T>C (p.Asp70=)
|
rs1553491062
|
|
NM_001128178.3(NPHP1):c.308T>G (p.Ile103Arg)
|
|
|
NM_001128178.3(NPHP1):c.374A>T (p.Asp125Val)
|
rs2104578757
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128178.3(NPHP1):c.419A>G (p.Glu140Gly)
|
|
|
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys)
|
rs1011754227
|
|
NM_001128178.3(NPHP1):c.468A>G (p.Glu156=)
|
|
|
NM_001128178.3(NPHP1):c.488T>A (p.Phe163Tyr)
|
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
|
|
|
NM_001128178.3(NPHP1):c.624+35dup
|
rs11453404
|
|
NM_001128178.3(NPHP1):c.625-82G>C
|
rs116047229
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.684A>G (p.Val228=)
|
rs138705625
|
|
NM_001128178.3(NPHP1):c.69+221_69+222del
|
rs566213949
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
NM_001128178.3(NPHP1):c.771+145C>T
|
|
|
NM_001128178.3(NPHP1):c.771+186dup
|
rs376683260
|
|
NM_001128178.3(NPHP1):c.771+19G>A
|
rs780802757
|
|
NM_001128178.3(NPHP1):c.771+201G>T
|
rs199669720
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.772-9T>C
|
rs1553487378
|
|
NM_001128178.3(NPHP1):c.790G>A (p.Val264Met)
|
rs1559074346
|
|
NM_001128178.3(NPHP1):c.843_845delinsGCT (p.Gln282Leu)
|
rs1559074182
|
|
NM_001128178.3(NPHP1):c.86C>T (p.Ser29Phe)
|
|
|
NM_001128178.3(NPHP1):c.898C>T (p.Leu300Phe)
|
rs772404584
|
|
NM_001128178.3(NPHP1):c.954+139T>C
|
rs3817140
|
|
NM_001128178.3(NPHP1):c.954+224_954+227del
|
rs368447278
|
|
NM_001128178.3(NPHP1):c.955-208dup
|
rs58635772
|
|
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)
|
rs794727018
|
|