NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
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_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
|
2q13 deletion (290 kb)
|
|
|
GRCh37/hg19 2q13(chr2:110875689-110967529)
|
|
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
NC_000002.11:g.(?_110879913)_(110963639_?)del
|
|
|
NC_000002.11:g.(?_110881368)_(110959091_?)del
|
|
|
NC_000002.12:g.(?_110123791)_(110201494_?)del
|
|
|
NC_000002.12:g.(?_110144493)_(110150256_?)del
|
|
|
NC_000002.12:g.(?_110163048)_(110204968_?)del
|
|
|
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
|
|
|
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
|
|
|
NM_000272.5:c.(?_-1)_(*1_?)del
|
|
|
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.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.1361_1362del (p.Glu454fs)
|
rs1553484094
|
|
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.480dup (p.Gly161fs)
|
|
|
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.625-1G>A
|
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
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.80T>A (p.Leu27Ter)
|
rs121907898
|
|
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.882C>A (p.Tyr294Ter)
|
|
|
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)
|
|
|