NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
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.518-2A>G
|
rs761142233
|
0.00002
|
NM_015102.5(NPHP4):c.992+2T>C
|
rs746243637
|
0.00002
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015102.5(NPHP4):c.1504-1G>A
|
rs1204924769
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NC_000001.10:g.(?_5964816)_(6017448_?)del
|
|
|
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)
|
rs1647148516
|
|
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)
|
rs1570504754
|
|
NM_015102.5(NPHP4):c.135_135+14del
|
rs1557895715
|
|
NM_015102.5(NPHP4):c.135_135+8del
|
rs2102455183
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.1503+1G>T
|
|
|
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs)
|
rs747699128
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2327del (p.Pro776fs)
|
rs1643882944
|
|
NM_015102.5(NPHP4):c.2611+1G>C
|
rs374141736
|
|
NM_015102.5(NPHP4):c.2611+2_2611+3del
|
rs2100733763
|
|
NM_015102.5(NPHP4):c.2686del (p.Arg896fs)
|
|
|
NM_015102.5(NPHP4):c.279+1G>A
|
|
|
NM_015102.5(NPHP4):c.280-1G>C
|
rs1652115764
|
|
NM_015102.5(NPHP4):c.2817+1G>A
|
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.3044+1G>T
|
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3231+1G>A
|
rs1642345798
|
|
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)
|
rs762371581
|
|
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)
|
rs2100466824
|
|
NM_015102.5(NPHP4):c.3473-1G>T
|
rs564232197
|
|
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs)
|
rs1641316046
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
|
|
|
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro)
|
rs765043646
|
|
NM_015102.5(NPHP4):c.452+1G>A
|
|
|
NM_015102.5(NPHP4):c.452+1G>T
|
rs1195128294
|
|
NM_015102.5(NPHP4):c.674-2A>G
|
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|
NM_015102.5(NPHP4):c.992+1G>T
|
|
|