NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)
|
rs778043242
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_153240.5(NPHP3):c.958-2A>G
|
rs780148543
|
0.00006
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
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_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
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_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
|
rs182135982
|
0.00003
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
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_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153240.5(NPHP3):c.469del (p.Arg157fs)
|
rs773760404
|
0.00002
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1352+1del
|
rs747861275
|
0.00001
|
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter)
|
rs764740388
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
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.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_014425.5(INVS):c.1078+1G>A
|
rs375416014
|
0.00001
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
0.00001
|
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)
|
rs149055711
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)
|
rs121964994
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014425.5(INVS):c.464G>A (p.Trp155Ter)
|
rs1007394906
|
0.00001
|
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
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter)
|
rs919854764
|
0.00001
|
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)
|
rs869312915
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
|
rs368138001
|
0.00001
|
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)
|
rs771742823
|
0.00001
|
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)
|
rs758498695
|
0.00001
|
2q13 deletion (290 kb)
|
|
|
NC_000001.10:g.(?_5933292)_(5940319_?)del
|
|
|
NC_000001.10:g.(?_5950908)_(5951108_?)del
|
|
|
NC_000001.10:g.(?_5964657)_(5969293_?)del
|
|
|
NC_000002.11:g.(?_110879913)_(110963639_?)del
|
|
|
NC_000002.11:g.(?_110881368)_(110959091_?)del
|
|
|
NC_000002.12:g.(?_110091603)_(110204968_?)del
|
|
|
NC_000002.12:g.(?_110123771)_(110204988_?)del
|
|
|
NC_000002.12:g.(?_110123791)_(110201494_?)del
|
|
|
NC_000002.12:g.(?_110123791)_(110204968_?)del
|
|
|
NC_000002.12:g.(?_110144493)_(110150256_?)del
|
|
|
NC_000002.12:g.(?_110163048)_(110204968_?)del
|
|
|
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
|
|
|
NC_000003.11:g.(?_121459590)_(121547499_?)del
|
|
|
NC_000003.11:g.(?_121526171)_(121527876_?)del
|
|
|
NC_000003.11:g.(?_121547297)_(121547807_?)del
|
|
|
NC_000003.11:g.(?_132379382)_(133191429_?)del
|
|
|
NC_000003.11:g.(?_132410016)_(132411682_?)del
|
|
|
NC_000003.12:g.(?_121772557)_(121781874_?)del
|
|
|
NC_000003.12:g.(?_132681890)_(132684814_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)del
|
|
|
NC_000009.11:g.(?_103008898)_(103009069_?)del
|
|
|
NC_000009.11:g.(?_103014545)_(103015438_?)del
|
|
|
NC_000009.11:g.(?_103027084)_(103035378_?)del
|
|
|
NC_000009.12:g.(?_100104498)_(100104627_?)del
|
|
|
NC_000009.12:g.(?_100126363)_(100126569_?)del
|
|
|
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
|
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
|
|
|
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
|
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter)
|
rs2108643223
|
|
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
|
|
|
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
|
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter)
|
rs776023179
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.264-2A>T
|
rs727503969
|
|
NM_001023570.4(IQCB1):c.273dup (p.Val92fs)
|
rs1201853761
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.490del (p.Leu164fs)
|
rs2108591614
|
|
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
|
|
|
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter)
|
rs2108571563
|
|
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs)
|
rs773848660
|
|
NM_001023570.4(IQCB1):c.757del (p.Cys253fs)
|
rs1949313357
|
|
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
|
|
|
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
|
|
|
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)
|
rs1474058708
|
|
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)
|
rs1949225959
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)
|
rs772827691
|
|
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)
|
rs398123285
|
|
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
|
|
|
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
|
|
|
NM_001128178.3(NPHP1):c.1084-1G>T
|
rs1458494785
|
|
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs)
|
rs772720024
|
|
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
|
|
|
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs)
|
rs1680874514
|
|
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
|
|
|
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs)
|
rs2104480049
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
|
|
|
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
|
|
|
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
|
|
|
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter)
|
rs1679301117
|
|
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
|
|
|
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
|
|
|
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
|
|
|
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
|
|
|
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs)
|
rs1679148969
|
|
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
|
|
|
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
|
|
|
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.735del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+130A>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.771+77_771+78del
|
rs1682584195
|
|
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
|
|
|
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs)
|
rs2104553788
|
|
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
|
|
|
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter)
|
rs1328879943
|
|
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
|
|
|
NM_001128178.3(NPHP1):c.937del (p.Asp313fs)
|
rs2104548314
|
|
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
|
|
|
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)
|
|
|
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)
|
rs766069291
|
|
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
|
|
|
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
|
|
|
NM_014425.5(INVS):c.1211del (p.Asp404fs)
|
|
|
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
|
|
|
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
|
|
|
NM_014425.5(INVS):c.1367del (p.Gly456fs)
|
|
|
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
|
|
|
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
|
|
|
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
|
|
|
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
|
|
|
NM_014425.5(INVS):c.1690del (p.Ala564fs)
|
|
|
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
|
|
|
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
|
|
|
NM_014425.5(INVS):c.1760del (p.Gln587fs)
|
rs1833004339
|
|
NM_014425.5(INVS):c.177_180dup (p.Leu61fs)
|
rs1564123602
|
|
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
|
|
|
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs)
|
rs1588145141
|
|
NM_014425.5(INVS):c.1812del (p.Glu605fs)
|
|
|
NM_014425.5(INVS):c.1822del (p.Gln608fs)
|
|
|
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter)
|
rs764384987
|
|
NM_014425.5(INVS):c.2012del (p.Gln671fs)
|
|
|
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)
|
rs150001738
|
|
NM_014425.5(INVS):c.2116del (p.Arg706fs)
|
|
|
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
|
|
|
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
|
|
|
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
|
|
|
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
|
|
|
NM_014425.5(INVS):c.2372dup (p.Lys792fs)
|
rs2118762244
|
|
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
|
|
|
NM_014425.5(INVS):c.245del (p.Arg82fs)
|
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)
|
rs755549444
|
|
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
|
|
|
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
|
|
|
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
|
|
|
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
|
|
|
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
|
|
|
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)
|
rs267607185
|
|
NM_014425.5(INVS):c.2729del (p.Lys910fs)
|
rs757019335
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2801del (p.Lys934fs)
|
rs2118781593
|
|
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
|
|
|
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)
|
rs1425211517
|
|
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
|
|
|
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)
|
rs1329661241
|
|
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
|
|
|
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
|
|
|
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
|
|
|
NM_014425.5(INVS):c.337del (p.Glu113fs)
|
|
|
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
|
|
|
NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
|
NM_014425.5(INVS):c.497del (p.Lys166fs)
|
|
|
NM_014425.5(INVS):c.630dup (p.Glu211fs)
|
|
|
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
|
|
|
NM_014425.5(INVS):c.662dup (p.Arg222fs)
|
rs769739938
|
|
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
|
|
|
NM_014425.5(INVS):c.673_674del (p.Leu225fs)
|
rs1205325321
|
|
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
|
|
|
NM_014425.5(INVS):c.833del (p.Asn278fs)
|
|
|
NM_014425.5(INVS):c.83del (p.Gly28fs)
|
rs763565647
|
|
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
|
|
|
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
|
|
NM_017909.4(RMND1):c.829_830+2del
|
rs1780336606
|
|
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs)
|
rs2107996325
|
|
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)
|
rs1576682880
|
|
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
|
|
|
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
|
|
|
NM_153240.5(NPHP3):c.1164del (p.Gly389fs)
|
rs2107990671
|
|
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)
|
|
|
NM_153240.5(NPHP3):c.1675del (p.His559fs)
|
|
|
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
|
|
|
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs)
|
rs780165789
|
|
NM_153240.5(NPHP3):c.1976del (p.Pro659fs)
|
rs1939543636
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer)
|
rs757578685
|
|
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs)
|
rs2107976854
|
|
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
|
|
|
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter)
|
rs2107971687
|
|
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
|
|
|
NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)
|
|
|
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)
|
rs758558609
|
|
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs)
|
rs1939234862
|
|
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs)
|
rs1560002147
|
|
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter)
|
rs777768843
|
|
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)
|
rs1560002113
|
|
NM_153240.5(NPHP3):c.30del (p.Ala11fs)
|
rs1311592052
|
|
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)
|
rs758238787
|
|
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)
|
rs771215577
|
|
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
|
|
|
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)
|
rs1560000875
|
|
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs)
|
rs746849675
|
|
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter)
|
rs2107963367
|
|
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
|
|
|
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
|
|
|
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs)
|
rs2107961294
|
|
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
|
|
|
NM_153240.5(NPHP3):c.3812+1G>T
|
rs1459151671
|
|
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)
|
rs1939045407
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
|
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153240.5(NPHP3):c.410del (p.Tyr137fs)
|
rs1560017690
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
NM_153240.5(NPHP3):c.436del (p.Ser146fs)
|
rs1940156340
|
|
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
|
|
|
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)
|
rs773521620
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs)
|
rs1349623728
|
|
NM_170784.3(MKKS):c.592_593del (p.Lys198fs)
|
rs2064903228
|
|