NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
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.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.619C>G (p.Leu207Val)
|
rs144088139
|
0.00029
|
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser)
|
rs189982575
|
0.00028
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
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.69+4T>C
|
rs570913772
|
0.00021
|
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.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
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_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001128178.3(NPHP1):c.1530-4A>G
|
rs370945279
|
0.00008
|
NM_001128178.3(NPHP1):c.1234A>G (p.Ile412Val)
|
rs958211666
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
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.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
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.1943C>G (p.Ala648Gly)
|
rs779089046
|
0.00003
|
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp)
|
rs765568261
|
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.1578G>C (p.Leu526Phe)
|
rs376737714
|
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.1883G>A (p.Arg628Gln)
|
rs768137941
|
0.00002
|
NM_001128178.3(NPHP1):c.1897A>G (p.Thr633Ala)
|
rs764769662
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
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.475G>A (p.Ala159Thr)
|
rs372855293
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
0.00002
|
NM_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
0.00001
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.1018C>T (p.Leu340Phe)
|
rs777385746
|
0.00001
|
NM_001128178.3(NPHP1):c.1162A>G (p.Thr388Ala)
|
rs755943785
|
0.00001
|
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His)
|
rs1285357819
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser)
|
rs774251781
|
0.00001
|
NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp)
|
rs960255611
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1456A>G (p.Met486Val)
|
rs1054886885
|
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.1558A>G (p.Met520Val)
|
rs141786398
|
0.00001
|
NM_001128178.3(NPHP1):c.1565C>T (p.Ser522Phe)
|
rs756812918
|
0.00001
|
NM_001128178.3(NPHP1):c.1597C>A (p.Leu533Ile)
|
rs776530596
|
0.00001
|
NM_001128178.3(NPHP1):c.1663C>G (p.Leu555Val)
|
rs770266229
|
0.00001
|
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
|
rs147090619
|
0.00001
|
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val)
|
rs778619698
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.1739G>A (p.Ser580Asn)
|
rs1408406395
|
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.1813G>A (p.Val605Met)
|
rs770956057
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1867G>C (p.Glu623Gln)
|
rs1418617951
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.330-9T>G
|
rs748197517
|
0.00001
|
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly)
|
rs745835094
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001128178.3(NPHP1):c.472A>G (p.Ile158Val)
|
rs745768183
|
0.00001
|
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys)
|
rs772166657
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.771+137G>A
|
rs779083426
|
0.00001
|
NM_001128178.3(NPHP1):c.771+139A>G
|
rs1345383804
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
0.00001
|
NM_001128178.3(NPHP1):c.875C>T (p.Ala292Val)
|
rs1179796852
|
0.00001
|
NM_001128178.3(NPHP1):c.922A>G (p.Arg308Gly)
|
rs1404351082
|
0.00001
|
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser)
|
rs1212929849
|
0.00001
|
NM_001128178.3(NPHP1):c.973C>T (p.Arg325Cys)
|
rs748435719
|
0.00001
|
NM_001128178.3(NPHP1):c.974G>A (p.Arg325His)
|
rs779098996
|
0.00001
|
NC_000002.11:g.(?_110907739)_(110962545_?)dup
|
|
|
NC_000002.11:g.(?_110962457)_(110962545_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110161697_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110164730_?)dup
|
|
|
NC_000002.12:g.(?_110123791)_(110201494_?)dup
|
|
|
NC_000002.12:g.(?_110168442)_(110204968_?)dup
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg)
|
rs112297047
|
|
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His)
|
rs746482479
|
|
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg)
|
|
|
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu)
|
rs1365124220
|
|
NM_001128178.3(NPHP1):c.1047C>A (p.Ser349Arg)
|
rs2104542406
|
|
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys)
|
rs754768821
|
|
NM_001128178.3(NPHP1):c.1083+6G>T
|
|
|
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.1166G>A (p.Arg389His)
|
rs140979636
|
|
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro)
|
rs140979636
|
|
NM_001128178.3(NPHP1):c.1177T>C (p.Cys393Arg)
|
|
|
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val)
|
rs1681189257
|
|
NM_001128178.3(NPHP1):c.11G>A (p.Arg4Lys)
|
|
|
NM_001128178.3(NPHP1):c.1211A>G (p.Asn404Ser)
|
rs1681187580
|
|
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr)
|
rs1681187208
|
|
NM_001128178.3(NPHP1):c.1229T>C (p.Leu410Pro)
|
rs765450176
|
|
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg)
|
rs759936705
|
|
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg)
|
|
|
NM_001128178.3(NPHP1):c.1263T>G (p.Ile421Met)
|
rs2104496731
|
|
NM_001128178.3(NPHP1):c.1264C>T (p.Arg422Cys)
|
|
|
NM_001128178.3(NPHP1):c.1265G>A (p.Arg422His)
|
rs773810185
|
|
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu)
|
rs773810185
|
|
NM_001128178.3(NPHP1):c.1268A>G (p.Asn423Ser)
|
|
|
NM_001128178.3(NPHP1):c.1269+17A>G
|
|
|
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=)
|
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu)
|
rs2104492226
|
|
NM_001128178.3(NPHP1):c.1352+5G>A
|
rs1681080526
|
|
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe)
|
|
|
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe)
|
rs2104483940
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu)
|
|
|
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys)
|
|
|
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys)
|
rs779393628
|
|
NM_001128178.3(NPHP1):c.144-6A>G
|
rs2104616583
|
|
NM_001128178.3(NPHP1):c.1441G>A (p.Val481Ile)
|
|
|
NM_001128178.3(NPHP1):c.1460C>A (p.Thr487Lys)
|
rs1680806014
|
|
NM_001128178.3(NPHP1):c.1460C>T (p.Thr487Ile)
|
rs1680806014
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.146G>A (p.Cys49Tyr)
|
|
|
NM_001128178.3(NPHP1):c.1470G>T (p.Arg490Ser)
|
rs1680804337
|
|
NM_001128178.3(NPHP1):c.1474C>A (p.Pro492Thr)
|
|
|
NM_001128178.3(NPHP1):c.1475C>T (p.Pro492Leu)
|
|
|
NM_001128178.3(NPHP1):c.1521T>G (p.Asn507Lys)
|
rs2104479969
|
|
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)
|
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys)
|
rs995292402
|
|
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro)
|
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1559T>A (p.Met520Lys)
|
rs1318488822
|
|
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr)
|
rs1318488822
|
|
NM_001128178.3(NPHP1):c.1577T>G (p.Leu526Trp)
|
rs1314119987
|
|
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu)
|
rs1559045921
|
|
NM_001128178.3(NPHP1):c.1599T>A (p.Leu533=)
|
rs2104437967
|
|
NM_001128178.3(NPHP1):c.1641T>C (p.Thr547=)
|
|
|
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn)
|
|
|
NM_001128178.3(NPHP1):c.1660A>G (p.Met554Val)
|
rs1679599536
|
|
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser)
|
rs746510153
|
|
NM_001128178.3(NPHP1):c.1672T>C (p.Phe558Leu)
|
rs2104428780
|
|
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg)
|
|
|
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala)
|
rs147090619
|
|
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met)
|
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1716+4G>A
|
|
|
NM_001128178.3(NPHP1):c.1716+5G>A
|
|
|
NM_001128178.3(NPHP1):c.1716+5G>T
|
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1747A>G (p.Lys583Glu)
|
rs1188653340
|
|
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro)
|
|
|
NM_001128178.3(NPHP1):c.1762-1G>A
|
rs2104409792
|
|
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu)
|
rs1679177926
|
|
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe)
|
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg)
|
|
|
NM_001128178.3(NPHP1):c.1807G>C (p.Asp603His)
|
rs745639828
|
|
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr)
|
rs745639828
|
|
NM_001128178.3(NPHP1):c.1810T>G (p.Cys604Gly)
|
rs2104409598
|
|
NM_001128178.3(NPHP1):c.1816C>T (p.Leu606Phe)
|
|
|
NM_001128178.3(NPHP1):c.1835C>T (p.Thr612Ile)
|
rs2104409447
|
|
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His)
|
rs566866150
|
|
NM_001128178.3(NPHP1):c.1838G>C (p.Arg613Pro)
|
|
|
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr)
|
rs886043591
|
|
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp)
|
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe)
|
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
|
|
|
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
|
|
|
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu)
|
|
|
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr)
|
rs1679151001
|
|
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs)
|
|
|
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile)
|
|
|
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly)
|
rs1683747045
|
|
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly)
|
|
|
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn)
|
rs1206786239
|
|
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser)
|
rs2104408356
|
|
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro)
|
rs753950057
|
|
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala)
|
|
|
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys)
|
rs1373708368
|
|
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile)
|
rs2104612175
|
|
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro)
|
|
|
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val)
|
rs1422250227
|
|
NM_001128178.3(NPHP1):c.292G>C (p.Gly98Arg)
|
rs1273570018
|
|
NM_001128178.3(NPHP1):c.304A>G (p.Thr102Ala)
|
rs2104611760
|
|
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.335G>A (p.Gly112Glu)
|
|
|
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser)
|
rs1683007830
|
|
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
|
rs1408606648
|
|
NM_001128178.3(NPHP1):c.378T>G (p.Ser126Arg)
|
rs1683002730
|
|
NM_001128178.3(NPHP1):c.386G>C (p.Ser129Thr)
|
|
|
NM_001128178.3(NPHP1):c.389G>A (p.Gly130Asp)
|
rs2104578629
|
|
NM_001128178.3(NPHP1):c.395A>G (p.Glu132Gly)
|
|
|
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val)
|
|
|
NM_001128178.3(NPHP1):c.415G>C (p.Glu139Gln)
|
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys)
|
rs1011754227
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.452G>C (p.Trp151Ser)
|
rs894279022
|
|
NM_001128178.3(NPHP1):c.472A>T (p.Ile158Phe)
|
|
|
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser)
|
rs372855293
|
|
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala)
|
|
|
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp)
|
|
|
NM_001128178.3(NPHP1):c.522+4G>C
|
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.523-14T>A
|
|
|
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg)
|
|
|
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro)
|
|
|
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr)
|
|
|
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
|
|
|
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser)
|
rs1682878259
|
|
NM_001128178.3(NPHP1):c.568T>C (p.Trp190Arg)
|
rs1682877562
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
|
|
|
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg)
|
|
|
NM_001128178.3(NPHP1):c.629A>G (p.Tyr210Cys)
|
rs1273893174
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.644_645delinsGC (p.Glu215Gly)
|
rs1682631627
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
NM_001128178.3(NPHP1):c.670A>G (p.Ser224Gly)
|
rs2104562029
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.681T>G (p.Asp227Glu)
|
rs2104561993
|
|
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu)
|
|
|
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val)
|
|
|
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His)
|
rs2104561811
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr)
|
|
|
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser)
|
rs2104560350
|
|
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)
|
|
|
NM_001128178.3(NPHP1):c.770A>T (p.Glu257Val)
|
rs1291806248
|
|
NM_001128178.3(NPHP1):c.771+101C>G
|
rs1352920059
|
|
NM_001128178.3(NPHP1):c.771+104G>C
|
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001128178.3(NPHP1):c.771+136C>T
|
|
|
NM_001128178.3(NPHP1):c.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+158C>T
|
rs2104559150
|
|
NM_001128178.3(NPHP1):c.771+172A>C
|
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.771+23A>C
|
|
|
NM_001128178.3(NPHP1):c.771+26A>G
|
|
|
NM_001128178.3(NPHP1):c.771+52C>G
|
|
|
NM_001128178.3(NPHP1):c.771+65G>A
|
rs2104559817
|
|
NM_001128178.3(NPHP1):c.771+65G>T
|
|
|
NM_001128178.3(NPHP1):c.771+76G>A
|
rs772549591
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
|
|
|
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile)
|
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_001128178.3(NPHP1):c.845A>G (p.Gln282Arg)
|
|
|
NM_001128178.3(NPHP1):c.845A>T (p.Gln282Leu)
|
|
|
NM_001128178.3(NPHP1):c.847C>G (p.Leu283Val)
|
rs757063331
|
|
NM_001128178.3(NPHP1):c.883T>G (p.Phe295Val)
|
rs2104548598
|
|
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg)
|
rs747172399
|
|
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly)
|
rs1685843048
|
|
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys)
|
rs1335925956
|
|
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val)
|
rs748446911
|
|
NM_001128178.3(NPHP1):c.916G>T (p.Ala306Ser)
|
|
|
NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr)
|
|
|
NM_001128178.3(NPHP1):c.954+5G>T
|
rs1242271896
|
|
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys)
|
|
|
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu)
|
|
|
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val)
|
|
|
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser)
|
|
|
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr)
|
rs794727018
|
|