NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03028
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01042
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00370
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
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.*250C>T
|
rs150558683
|
0.00139
|
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.836C>T (p.Thr279Met)
|
rs200201945
|
0.00060
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00055
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00042
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser)
|
rs189982575
|
0.00028
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00025
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001128178.3(NPHP1):c.69+4T>C
|
rs570913772
|
0.00021
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00020
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)
|
rs201460699
|
0.00012
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00012
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00009
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00007
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00007
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00006
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00005
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
|
rs147090619
|
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.772-11A>T
|
rs189649819
|
0.00005
|
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val)
|
rs750291966
|
0.00005
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1353-9C>A
|
rs376436841
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00003
|
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)
|
rs368025611
|
0.00003
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00003
|
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)
|
rs778531895
|
0.00003
|
NM_001128178.3(NPHP1):c.1943C>G (p.Ala648Gly)
|
rs779089046
|
0.00003
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00003
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00003
|
NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr)
|
rs780578104
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp)
|
rs765568261
|
0.00003
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00003
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00003
|
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)
|
rs148809478
|
0.00002
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
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.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001128178.3(NPHP1):c.771+26A>G
|
rs1437104283
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
0.00002
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
0.00001
|
NM_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
0.00001
|
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.1279G>C (p.Glu427Gln)
|
rs886054753
|
0.00001
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser)
|
rs774251781
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1520A>G (p.Asn507Ser)
|
rs35638834
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
0.00001
|
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val)
|
rs778619698
|
0.00001
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
0.00001
|
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His)
|
rs1215401547
|
0.00001
|
NM_001128178.3(NPHP1):c.1765G>A (p.Asp589Asn)
|
rs896252440
|
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.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
|
rs748152745
|
0.00001
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
0.00001
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.385_386del (p.Ser129fs)
|
rs757139057
|
0.00001
|
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)
|
rs747176517
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
|
rs1682469936
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
0.00001
|
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser)
|
rs1212929849
|
0.00001
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_001128178.3(NPHP1):c.1043T>C (p.Leu348Pro)
|
|
|
NM_001128178.3(NPHP1):c.1044_1053del (p.Ser349fs)
|
|
|
NM_001128178.3(NPHP1):c.1057C>T (p.Arg353Cys)
|
|
|
NM_001128178.3(NPHP1):c.1078A>G (p.Asn360Asp)
|
|
|
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1187A>G (p.Asp396Gly)
|
|
|
NM_001128178.3(NPHP1):c.1269+15A>G
|
rs2467258975
|
|
NM_001128178.3(NPHP1):c.1270-12C>T
|
rs772635725
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
rs2467599617
|
|
NM_001128178.3(NPHP1):c.1306G>A (p.Val436Met)
|
|
|
NM_001128178.3(NPHP1):c.1352+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg)
|
|
|
NM_001128178.3(NPHP1):c.1415_1427del (p.Pro471_Ser472insTer)
|
|
|
NM_001128178.3(NPHP1):c.1429+12A>G
|
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1525C>G (p.Leu509Val)
|
|
|
NM_001128178.3(NPHP1):c.1530-1G>A
|
|
|
NM_001128178.3(NPHP1):c.1530-4del
|
rs757295724
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr)
|
rs1318488822
|
|
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu)
|
rs1559045921
|
|
NM_001128178.3(NPHP1):c.1642+3A>T
|
|
|
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser)
|
rs746510153
|
|
NM_001128178.3(NPHP1):c.1676C>T (p.Pro559Leu)
|
|
|
NM_001128178.3(NPHP1):c.1704G>A (p.Met568Ile)
|
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)
|
|
|
NM_001128178.3(NPHP1):c.1761+8A>G
|
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.182del (p.Asn61fs)
|
rs1683749371
|
|
NM_001128178.3(NPHP1):c.1838G>T (p.Arg613Leu)
|
|
|
NM_001128178.3(NPHP1):c.1846C>G (p.Pro616Ala)
|
|
|
NM_001128178.3(NPHP1):c.1853G>A (p.Arg618Lys)
|
|
|
NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del)
|
rs769266828
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1891G>A (p.Val631Ile)
|
|
|
NM_001128178.3(NPHP1):c.1893dup (p.Ile632fs)
|
|
|
NM_001128178.3(NPHP1):c.1909A>G (p.Lys637Glu)
|
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly)
|
rs1683747045
|
|
NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)
|
|
|
NM_001128178.3(NPHP1):c.2006T>C (p.Leu669Ser)
|
|
|
NM_001128178.3(NPHP1):c.223G>A (p.Val75Ile)
|
|
|
NM_001128178.3(NPHP1):c.307A>C (p.Ile103Leu)
|
rs778905635
|
|
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
|
rs977347524
|
|
NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)
|
|
|
NM_001128178.3(NPHP1):c.330-10C>G
|
|
|
NM_001128178.3(NPHP1):c.33G>C (p.Gln11His)
|
|
|
NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)
|
|
|
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
|
rs1408606648
|
|
NM_001128178.3(NPHP1):c.367_381del (p.Ser123_Glu127del)
|
|
|
NM_001128178.3(NPHP1):c.410A>G (p.Glu137Gly)
|
|
|
NM_001128178.3(NPHP1):c.41G>A (p.Arg14Gln)
|
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.46C>T (p.Arg16Cys)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)
|
|
|
NM_001128178.3(NPHP1):c.522+1G>A
|
rs2467403268
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.522G>C (p.Lys174Asn)
|
|
|
NM_001128178.3(NPHP1):c.523-1G>T
|
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
|
rs751001238
|
|
NM_001128178.3(NPHP1):c.589G>A (p.Gly197Arg)
|
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.609dup (p.Arg204fs)
|
|
|
NM_001128178.3(NPHP1):c.617A>T (p.Tyr206Phe)
|
|
|
NM_001128178.3(NPHP1):c.622G>C (p.Glu208Gln)
|
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
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rs777677768
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NM_001128178.3(NPHP1):c.640G>A (p.Glu214Lys)
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NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
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rs947765689
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NM_001128178.3(NPHP1):c.69+1del
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rs1435671751
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NM_001128178.3(NPHP1):c.70-10G>T
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NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
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rs201661196
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NM_001128178.3(NPHP1):c.735del (p.His247fs)
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rs2467370270
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NM_001128178.3(NPHP1):c.771+136C>A
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rs142670785
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NM_001128178.3(NPHP1):c.771+148G>T
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rs753796140
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NM_001128178.3(NPHP1):c.771+151T>G
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NM_001128178.3(NPHP1):c.771+170T>G
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NM_001128178.3(NPHP1):c.771+178C>T
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rs767903893
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NM_001128178.3(NPHP1):c.771+37_771+38dup
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NM_001128178.3(NPHP1):c.771+56T>C
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NM_001128178.3(NPHP1):c.771+58C>T
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rs367600757
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NM_001128178.3(NPHP1):c.771+5G>C
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NM_001128178.3(NPHP1):c.771+86C>T
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NM_001128178.3(NPHP1):c.772-5T>C
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rs201478764
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NM_001128178.3(NPHP1):c.772-5T>G
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NM_001128178.3(NPHP1):c.808G>A (p.Ala270Thr)
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NM_001128178.3(NPHP1):c.811A>T (p.Ile271Phe)
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NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
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rs886054754
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NM_001128178.3(NPHP1):c.821G>A (p.Gly274Glu)
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NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
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rs1388373598
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NM_001128178.3(NPHP1):c.859+1G>A
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NM_001128178.3(NPHP1):c.859+8G>C
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rs765856771
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NM_001128178.3(NPHP1):c.878del (p.Asn293fs)
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NM_001128178.3(NPHP1):c.912A>T (p.Gln304His)
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NM_001128178.3(NPHP1):c.93C>A (p.Ser31Arg)
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NM_001128178.3(NPHP1):c.977T>G (p.Ile326Ser)
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NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)
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rs794727018
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