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.43C>A (p.Arg15Ser)
|
rs373915635
|
0.00029
|
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val)
|
rs144088139
|
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.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001128178.3(NPHP1):c.771+33G>A
|
rs751388694
|
0.00017
|
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.805G>A (p.Gly269Arg)
|
rs768608137
|
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.202A>C (p.Lys68Gln)
|
rs748557384
|
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.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.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.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.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
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.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)x1
|
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu)
|
rs2104492226
|
|
NM_001128178.3(NPHP1):c.1429+7C>T
|
rs1553484063
|
|
NM_001128178.3(NPHP1):c.1429+9C>G
|
rs1163657756
|
|
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.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.1666G>T (p.Ala556Ser)
|
rs746510153
|
|
NM_001128178.3(NPHP1):c.1716+7A>G
|
rs1445032611
|
|
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.1950G>A (p.Leu650=)
|
rs144850331
|
|
NM_001128178.3(NPHP1):c.210T>C (p.Asp70=)
|
rs1553491062
|
|
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.488T>A (p.Phe163Tyr)
|
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
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+19G>A
|
rs780802757
|
|
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.898C>T (p.Leu300Phe)
|
rs772404584
|
|
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)
|
rs794727018
|
|