NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His)
|
rs144781228
|
0.00154
|
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)
|
rs113364886
|
0.00121
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_153240.5(NPHP3):c.393+18C>T
|
rs367765709
|
0.00042
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_153240.5(NPHP3):c.2884-4C>G
|
rs185913426
|
0.00034
|
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)
|
rs111727307
|
0.00033
|
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)
|
rs146250226
|
0.00026
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00020
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=)
|
rs150489788
|
0.00019
|
NM_153240.5(NPHP3):c.3812+16A>G
|
rs376029054
|
0.00019
|
NM_153240.5(NPHP3):c.3990G>A (p.Arg1330=)
|
rs147332157
|
0.00016
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val)
|
rs764000635
|
0.00014
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=)
|
rs201015677
|
0.00013
|
NM_153240.5(NPHP3):c.2883+16C>T
|
rs376492280
|
0.00012
|
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)
|
rs202048210
|
0.00011
|
NM_153240.5(NPHP3):c.1744-12C>G
|
rs367785168
|
0.00010
|
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)
|
rs146316936
|
0.00009
|
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)
|
rs146054765
|
0.00009
|
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)
|
rs190548695
|
0.00009
|
NM_153240.5(NPHP3):c.2884-5C>T
|
rs764010022
|
0.00008
|
NM_153240.5(NPHP3):c.3330-19T>C
|
rs372840443
|
0.00007
|
NM_153240.5(NPHP3):c.957+16A>C
|
rs368705884
|
0.00007
|
NM_153240.5(NPHP3):c.1887+17del
|
rs772091214
|
0.00006
|
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=)
|
rs368406864
|
0.00006
|
NM_153240.5(NPHP3):c.2172-12C>T
|
rs886038736
|
0.00006
|
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=)
|
rs767339363
|
0.00006
|
NM_153240.5(NPHP3):c.3570+17A>G
|
rs377589434
|
0.00006
|
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=)
|
rs1025642403
|
0.00005
|
NM_153240.5(NPHP3):c.3126-4T>A
|
rs746873186
|
0.00005
|
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=)
|
rs139351534
|
0.00005
|
NM_153240.5(NPHP3):c.894C>T (p.Asn298=)
|
rs988823074
|
0.00005
|
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)
|
rs563403703
|
0.00004
|
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)
|
rs760355143
|
0.00004
|
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=)
|
rs766231228
|
0.00004
|
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=)
|
rs747847543
|
0.00004
|
NM_153240.5(NPHP3):c.1119-12T>C
|
rs753569204
|
0.00003
|
NM_153240.5(NPHP3):c.1629-19T>G
|
rs1176486903
|
0.00003
|
NM_153240.5(NPHP3):c.1744-7C>G
|
rs758273843
|
0.00003
|
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)
|
rs372990521
|
0.00003
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=)
|
rs777911324
|
0.00002
|
NM_153240.5(NPHP3):c.1986-7A>G
|
rs373733344
|
0.00002
|
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)
|
rs761833505
|
0.00002
|
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr)
|
rs770302939
|
0.00002
|
NM_153240.5(NPHP3):c.2171+8G>A
|
rs147825615
|
0.00002
|
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=)
|
rs780587933
|
0.00002
|
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)
|
rs777768843
|
0.00002
|
NM_153240.5(NPHP3):c.3429T>G (p.Ala1143=)
|
rs772904943
|
0.00002
|
NM_153240.5(NPHP3):c.384C>G (p.Ala128=)
|
rs201425936
|
0.00002
|
NM_153240.5(NPHP3):c.671-18A>G
|
rs776019324
|
0.00002
|
NM_153240.5(NPHP3):c.978G>A (p.Lys326=)
|
rs759490137
|
0.00002
|
NM_153240.5(NPHP3):c.1118+7T>C
|
rs755103165
|
0.00001
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
NM_153240.5(NPHP3):c.1245T>G (p.Val415=)
|
rs772276779
|
0.00001
|
NM_153240.5(NPHP3):c.1311A>G (p.Val437=)
|
rs1393593329
|
0.00001
|
NM_153240.5(NPHP3):c.1351-6G>A
|
rs758073939
|
0.00001
|
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=)
|
rs770200607
|
0.00001
|
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=)
|
rs369725128
|
0.00001
|
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu)
|
rs368008794
|
0.00001
|
NM_153240.5(NPHP3):c.1521G>A (p.Glu507=)
|
rs762044969
|
0.00001
|
NM_153240.5(NPHP3):c.1581C>T (p.Leu527=)
|
rs183241346
|
0.00001
|
NM_153240.5(NPHP3):c.1618T>C (p.Leu540=)
|
rs1346281529
|
0.00001
|
NM_153240.5(NPHP3):c.1620A>G (p.Leu540=)
|
rs772704156
|
0.00001
|
NM_153240.5(NPHP3):c.1629-17_1629-13del
|
rs1197764455
|
0.00001
|
NM_153240.5(NPHP3):c.1692C>T (p.Pro564=)
|
rs1448083146
|
0.00001
|
NM_153240.5(NPHP3):c.1791T>C (p.Ala597=)
|
rs1269919387
|
0.00001
|
NM_153240.5(NPHP3):c.1986-10T>C
|
rs1449961171
|
0.00001
|
NM_153240.5(NPHP3):c.1986-20T>G
|
rs372668523
|
0.00001
|
NM_153240.5(NPHP3):c.1986-8C>T
|
rs780778474
|
0.00001
|
NM_153240.5(NPHP3):c.2088+14A>T
|
rs773344647
|
0.00001
|
NM_153240.5(NPHP3):c.2109C>T (p.His703=)
|
rs765177103
|
0.00001
|
NM_153240.5(NPHP3):c.2172-19C>A
|
rs759217005
|
0.00001
|
NM_153240.5(NPHP3):c.2259C>T (p.His753=)
|
rs765940696
|
0.00001
|
NM_153240.5(NPHP3):c.2310+20T>C
|
rs767427222
|
0.00001
|
NM_153240.5(NPHP3):c.2346G>A (p.Val782=)
|
rs200418725
|
0.00001
|
NM_153240.5(NPHP3):c.2560T>C (p.Leu854=)
|
rs758928870
|
0.00001
|
NM_153240.5(NPHP3):c.2571-12C>G
|
rs886058003
|
0.00001
|
NM_153240.5(NPHP3):c.2658T>C (p.Leu886=)
|
rs773079895
|
0.00001
|
NM_153240.5(NPHP3):c.2883+8C>G
|
rs373257282
|
0.00001
|
NM_153240.5(NPHP3):c.2884-8C>T
|
rs757300023
|
0.00001
|
NM_153240.5(NPHP3):c.2937C>T (p.Pro979=)
|
rs774962213
|
0.00001
|
NM_153240.5(NPHP3):c.3036G>A (p.Leu1012=)
|
rs1036061016
|
0.00001
|
NM_153240.5(NPHP3):c.306C>T (p.Arg102=)
|
rs762134618
|
0.00001
|
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=)
|
rs745568685
|
0.00001
|
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
|
rs553665584
|
0.00001
|
NM_153240.5(NPHP3):c.3306C>G (p.Leu1102=)
|
rs757542289
|
0.00001
|
NM_153240.5(NPHP3):c.3318A>G (p.Gln1106=)
|
rs1161730457
|
0.00001
|
NM_153240.5(NPHP3):c.3393C>T (p.His1131=)
|
rs1416876931
|
0.00001
|
NM_153240.5(NPHP3):c.3480A>G (p.Arg1160=)
|
rs1393705320
|
0.00001
|
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)
|
rs761585621
|
0.00001
|
NM_153240.5(NPHP3):c.3540G>A (p.Val1180=)
|
rs1939108951
|
0.00001
|
NM_153240.5(NPHP3):c.354G>A (p.Lys118=)
|
rs769508776
|
0.00001
|
NM_153240.5(NPHP3):c.3696+20C>T
|
rs773940041
|
0.00001
|
NM_153240.5(NPHP3):c.3705C>T (p.His1235=)
|
rs753143081
|
0.00001
|
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=)
|
rs777264064
|
0.00001
|
NM_153240.5(NPHP3):c.3912A>G (p.Ser1304=)
|
rs114049311
|
0.00001
|
NM_153240.5(NPHP3):c.520-12T>C
|
rs763909286
|
0.00001
|
NM_153240.5(NPHP3):c.600A>G (p.Leu200=)
|
rs749309370
|
0.00001
|
NM_153240.5(NPHP3):c.657T>C (p.Cys219=)
|
rs200533815
|
0.00001
|
NM_153240.5(NPHP3):c.671-14C>A
|
rs370887292
|
0.00001
|
NM_153240.5(NPHP3):c.684A>G (p.Gln228=)
|
rs1369748544
|
0.00001
|
NM_153240.5(NPHP3):c.801A>T (p.Gly267=)
|
rs763333048
|
0.00001
|
NM_153240.5(NPHP3):c.823+20A>G
|
rs898519948
|
0.00001
|
NM_153240.5(NPHP3):c.876A>G (p.Ser292=)
|
rs777368543
|
0.00001
|
NM_153240.5(NPHP3):c.903A>G (p.Arg301=)
|
rs375395871
|
0.00001
|
NM_153240.5(NPHP3):c.921A>G (p.Thr307=)
|
rs368874413
|
0.00001
|
NM_153240.5(NPHP3):c.987C>T (p.Cys329=)
|
rs138124482
|
0.00001
|
NM_153240.5(NPHP3):c.1026A>G (p.Pro342=)
|
|
|
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=)
|
rs756382033
|
|
NM_153240.5(NPHP3):c.1044A>G (p.Gln348=)
|
rs1560014152
|
|
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=)
|
rs1215885580
|
|
NM_153240.5(NPHP3):c.1118+11A>C
|
rs751629184
|
|
NM_153240.5(NPHP3):c.1118+17T>C
|
rs766373582
|
|
NM_153240.5(NPHP3):c.1118+18G>A
|
rs2107996221
|
|
NM_153240.5(NPHP3):c.1118+8del
|
|
|
NM_153240.5(NPHP3):c.1119-18T>C
|
|
|
NM_153240.5(NPHP3):c.1167A>G (p.Gly389=)
|
|
|
NM_153240.5(NPHP3):c.1221T>C (p.Ser407=)
|
|
|
NM_153240.5(NPHP3):c.1275+10A>G
|
|
|
NM_153240.5(NPHP3):c.1275+12del
|
rs2107990515
|
|
NM_153240.5(NPHP3):c.1275+14G>T
|
|
|
NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)
|
|
|
NM_153240.5(NPHP3):c.1350+10C>A
|
|
|
NM_153240.5(NPHP3):c.1350+11A>G
|
rs1159005602
|
|
NM_153240.5(NPHP3):c.1351-11T>C
|
rs2107986017
|
|
NM_153240.5(NPHP3):c.1351-15G>A
|
rs2107986026
|
|
NM_153240.5(NPHP3):c.1441C>T (p.Leu481=)
|
|
|
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met)
|
rs771804922
|
|
NM_153240.5(NPHP3):c.1470A>G (p.Gln490=)
|
rs2107985821
|
|
NM_153240.5(NPHP3):c.1515A>G (p.Gly505=)
|
rs1411856886
|
|
NM_153240.5(NPHP3):c.1524+7G>T
|
rs760682707
|
|
NM_153240.5(NPHP3):c.1525-12T>G
|
|
|
NM_153240.5(NPHP3):c.1525-20A>G
|
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=)
|
rs368126549
|
|
NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)
|
|
|
NM_153240.5(NPHP3):c.15G>A (p.Ser5=)
|
rs2108008379
|
|
NM_153240.5(NPHP3):c.1608G>A (p.Lys536=)
|
rs200647158
|
|
NM_153240.5(NPHP3):c.1628+19A>C
|
|
|
NM_153240.5(NPHP3):c.1628+9C>A
|
rs1199591337
|
|
NM_153240.5(NPHP3):c.1628+9C>T
|
|
|
NM_153240.5(NPHP3):c.1663C>T (p.Leu555=)
|
|
|
NM_153240.5(NPHP3):c.1689G>A (p.Arg563=)
|
|
|
NM_153240.5(NPHP3):c.1707A>G (p.Ser569=)
|
|
|
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=)
|
rs1060504844
|
|
NM_153240.5(NPHP3):c.1743+17T>G
|
rs2107981287
|
|
NM_153240.5(NPHP3):c.1743+19T>C
|
|
|
NM_153240.5(NPHP3):c.1744-4G>T
|
rs750318426
|
|
NM_153240.5(NPHP3):c.1744-8T>C
|
|
|
NM_153240.5(NPHP3):c.1752G>A (p.Gln584=)
|
rs1409547506
|
|
NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)
|
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.1887+10T>A
|
|
|
NM_153240.5(NPHP3):c.1887+11C>A
|
|
|
NM_153240.5(NPHP3):c.1923A>G (p.Pro641=)
|
|
|
NM_153240.5(NPHP3):c.1985+18G>A
|
rs754296173
|
|
NM_153240.5(NPHP3):c.1989G>A (p.Leu663=)
|
rs1939482136
|
|
NM_153240.5(NPHP3):c.2052A>G (p.Glu684=)
|
|
|
NM_153240.5(NPHP3):c.2074T>C (p.Leu692=)
|
rs1939479118
|
|
NM_153240.5(NPHP3):c.2089-4G>T
|
|
|
NM_153240.5(NPHP3):c.2089-8T>C
|
|
|
NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)
|
|
|
NM_153240.5(NPHP3):c.2157C>G (p.Gly719=)
|
rs1939463263
|
|
NM_153240.5(NPHP3):c.2172-11G>A
|
|
|
NM_153240.5(NPHP3):c.2193A>G (p.Leu731=)
|
rs2107974699
|
|
NM_153240.5(NPHP3):c.21C>G (p.Leu7=)
|
|
|
NM_153240.5(NPHP3):c.2238A>G (p.Ser746=)
|
rs2107974643
|
|
NM_153240.5(NPHP3):c.2310+10A>G
|
rs1939404058
|
|
NM_153240.5(NPHP3):c.2310+17T>A
|
|
|
NM_153240.5(NPHP3):c.2311-12T>G
|
rs1939334269
|
|
NM_153240.5(NPHP3):c.2311-13T>G
|
|
|
NM_153240.5(NPHP3):c.2311-14G>A
|
|
|
NM_153240.5(NPHP3):c.2311-6A>C
|
rs769918347
|
|
NM_153240.5(NPHP3):c.2311-6A>G
|
rs769918347
|
|
NM_153240.5(NPHP3):c.2311-9T>C
|
|
|
NM_153240.5(NPHP3):c.2361G>C (p.Leu787=)
|
|
|
NM_153240.5(NPHP3):c.2394C>T (p.Phe798=)
|
rs534190640
|
|
NM_153240.5(NPHP3):c.2431T>C (p.Leu811=)
|
rs2107971631
|
|
NM_153240.5(NPHP3):c.2433G>A (p.Leu811=)
|
rs1277600730
|
|
NM_153240.5(NPHP3):c.2439T>A (p.Thr813=)
|
rs2107971620
|
|
NM_153240.5(NPHP3):c.2475+19T>A
|
|
|
NM_153240.5(NPHP3):c.2476-14C>T
|
|
|
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=)
|
rs866796047
|
|
NM_153240.5(NPHP3):c.2562G>A (p.Leu854=)
|
|
|
NM_153240.5(NPHP3):c.2570+10A>G
|
rs1576665035
|
|
NM_153240.5(NPHP3):c.2570+18G>A
|
|
|
NM_153240.5(NPHP3):c.2571-14C>G
|
|
|
NM_153240.5(NPHP3):c.2577C>T (p.Asp859=)
|
|
|
NM_153240.5(NPHP3):c.2610G>T (p.Pro870=)
|
|
|
NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)
|
|
|
NM_153240.5(NPHP3):c.2721T>C (p.Tyr907=)
|
rs1486007292
|
|
NM_153240.5(NPHP3):c.2760A>G (p.Thr920=)
|
rs2107968069
|
|
NM_153240.5(NPHP3):c.2799C>T (p.Cys933=)
|
|
|
NM_153240.5(NPHP3):c.2808G>A (p.Glu936=)
|
|
|
NM_153240.5(NPHP3):c.2823C>T (p.Cys941=)
|
|
|
NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)
|
|
|
NM_153240.5(NPHP3):c.2871C>T (p.Gly957=)
|
rs2107967950
|
|
NM_153240.5(NPHP3):c.2884-4C>A
|
rs185913426
|
|
NM_153240.5(NPHP3):c.2884-6C>T
|
|
|
NM_153240.5(NPHP3):c.2884-8C>A
|
rs757300023
|
|
NM_153240.5(NPHP3):c.2884-9T>C
|
|
|
NM_153240.5(NPHP3):c.2928T>G (p.Ala976=)
|
rs2107967702
|
|
NM_153240.5(NPHP3):c.2970A>G (p.Gln990=)
|
rs2107967635
|
|
NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)
|
|
|
NM_153240.5(NPHP3):c.3033G>A (p.Ala1011=)
|
|
|
NM_153240.5(NPHP3):c.3048A>G (p.Glu1016=)
|
rs1170253406
|
|
NM_153240.5(NPHP3):c.3125+19G>A
|
rs2107967402
|
|
NM_153240.5(NPHP3):c.3126-13A>T
|
|
|
NM_153240.5(NPHP3):c.3126-17T>C
|
rs186041429
|
|
NM_153240.5(NPHP3):c.3126-17T>G
|
rs186041429
|
|
NM_153240.5(NPHP3):c.3126-7T>G
|
rs1262764918
|
|
NM_153240.5(NPHP3):c.3180T>G (p.Ala1060=)
|
rs2107965871
|
|
NM_153240.5(NPHP3):c.3201+11A>G
|
rs1423098134
|
|
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
|
|
|
NM_153240.5(NPHP3):c.3213C>T (p.Ala1071=)
|
|
|
NM_153240.5(NPHP3):c.3279T>G (p.Ala1093=)
|
|
|
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
|
|
|
NM_153240.5(NPHP3):c.3297G>A (p.Leu1099=)
|
rs1560000891
|
|
NM_153240.5(NPHP3):c.3330-18T>C
|
rs1476177804
|
|
NM_153240.5(NPHP3):c.339C>G (p.Gly113=)
|
|
|
NM_153240.5(NPHP3):c.3444G>A (p.Lys1148=)
|
|
|
NM_153240.5(NPHP3):c.3531A>G (p.Ala1177=)
|
|
|
NM_153240.5(NPHP3):c.3570+18T>C
|
rs2107963185
|
|
NM_153240.5(NPHP3):c.3571-10del
|
|
|
NM_153240.5(NPHP3):c.3571-10dup
|
|
|
NM_153240.5(NPHP3):c.3571-14C>T
|
|
|
NM_153240.5(NPHP3):c.3571-15A>T
|
|
|
NM_153240.5(NPHP3):c.3571-7T>G
|
|
|
NM_153240.5(NPHP3):c.3604T>C (p.Leu1202=)
|
|
|
NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)
|
|
|
NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)
|
|
|
NM_153240.5(NPHP3):c.3696+12T>A
|
|
|
NM_153240.5(NPHP3):c.3696+14T>G
|
|
|
NM_153240.5(NPHP3):c.3697-11T>C
|
|
|
NM_153240.5(NPHP3):c.3697-13T>G
|
rs1939067140
|
|
NM_153240.5(NPHP3):c.3697-16C>A
|
rs2107961469
|
|
NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)
|
|
|
NM_153240.5(NPHP3):c.3812+16_3812+17del
|
|
|
NM_153240.5(NPHP3):c.3813-18_3813-17del
|
|
|
NM_153240.5(NPHP3):c.3846A>G (p.Glu1282=)
|
|
|
NM_153240.5(NPHP3):c.3891C>T (p.Leu1297=)
|
rs1436695205
|
|
NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)
|
|
|
NM_153240.5(NPHP3):c.393+16G>T
|
|
|
NM_153240.5(NPHP3):c.393+19G>A
|
|
|
NM_153240.5(NPHP3):c.393+20C>G
|
|
|
NM_153240.5(NPHP3):c.393+7C>T
|
|
|
NM_153240.5(NPHP3):c.394-17_394-15del
|
rs766909353
|
|
NM_153240.5(NPHP3):c.394-20A>G
|
|
|
NM_153240.5(NPHP3):c.394-35_394-20del
|
rs771153447
|
|
NM_153240.5(NPHP3):c.396A>T (p.Ala132=)
|
|
|
NM_153240.5(NPHP3):c.402A>G (p.Gln134=)
|
rs2108003851
|
|
NM_153240.5(NPHP3):c.474A>G (p.Ala158=)
|
rs758512712
|
|
NM_153240.5(NPHP3):c.519+11del
|
rs2108003644
|
|
NM_153240.5(NPHP3):c.519+13C>A
|
|
|
NM_153240.5(NPHP3):c.519+13C>T
|
|
|
NM_153240.5(NPHP3):c.520-13A>G
|
|
|
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
|
|
|
NM_153240.5(NPHP3):c.561G>A (p.Leu187=)
|
rs1194475374
|
|
NM_153240.5(NPHP3):c.576G>A (p.Glu192=)
|
|
|
NM_153240.5(NPHP3):c.577T>C (p.Leu193=)
|
|
|
NM_153240.5(NPHP3):c.627T>C (p.Asp209=)
|
rs2108002787
|
|
NM_153240.5(NPHP3):c.633G>A (p.Gly211=)
|
|
|
NM_153240.5(NPHP3):c.666C>T (p.Val222=)
|
rs2108002721
|
|
NM_153240.5(NPHP3):c.670+10_670+11insGG
|
|
|
NM_153240.5(NPHP3):c.670+13C>A
|
|
|
NM_153240.5(NPHP3):c.670+13C>T
|
rs202228115
|
|
NM_153240.5(NPHP3):c.670+14del
|
|
|
NM_153240.5(NPHP3):c.670+19dup
|
|
|
NM_153240.5(NPHP3):c.670+9A>G
|
rs2108002703
|
|
NM_153240.5(NPHP3):c.777C>T (p.Ala259=)
|
rs1384613347
|
|
NM_153240.5(NPHP3):c.819T>C (p.Asn273=)
|
rs2108000058
|
|
NM_153240.5(NPHP3):c.824-15A>T
|
|
|
NM_153240.5(NPHP3):c.824-8A>G
|
|
|
NM_153240.5(NPHP3):c.957+14T>G
|
|
|
NM_153240.5(NPHP3):c.957+16_957+24del
|
|
|
NM_153240.5(NPHP3):c.957+18T>C
|
|
|
NM_153240.5(NPHP3):c.958-4T>C
|
rs2107996443
|
|
NM_153240.5(NPHP3):c.993A>G (p.Thr331=)
|
rs1939961664
|
|