NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_005465.7(AKT3):c.*5398_*5402dup
|
rs368945100
|
0.00273
|
NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_001023570.4(IQCB1):c.-147del
|
rs886057829
|
0.00034
|
NM_001023570.3(IQCB1):c.-215C>T
|
rs541891117
|
0.00026
|
NM_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
0.00022
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)
|
rs886057824
|
0.00001
|
NM_015102.4(NPHP4):c.-225G>A
|
rs886046469
|
0.00001
|
NM_015102.4(NPHP4):c.-237G>C
|
rs867788720
|
0.00001
|
NM_024753.5(TTC21B):c.1088-1G>C
|
rs753627675
|
0.00001
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001023570.4(IQCB1):c.-147_-142del
|
rs72421117
|
|
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)
|
rs1576559094
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.488-13dup
|
rs753164790
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_005465.7(AKT3):c.*5155_*5159dup
|
rs577416381
|
|
NM_006642.5(SDCCAG8):c.*214_*217dup
|
rs1057515485
|
|
NM_006642.5(SDCCAG8):c.*287A>G
|
rs1057515459
|
|
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)
|
rs1573920009
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025132.4(WDR19):c.3184-2A>C
|
rs1020915921
|
|