NM_015910.7(WDPCP):c.*604_*605del
|
rs886056219
|
0.01222
|
NM_001278293.3(ARL6):c.*284C>A
|
rs148380165
|
0.01054
|
NM_024685.3(BBS10):c.-71C>T
|
rs569445445
|
0.00293
|
NM_005465.7(AKT3):c.*5398_*5402dup
|
rs368945100
|
0.00273
|
NM_012210.4(TRIM32):c.*1411_*1414dup
|
rs758130716
|
0.00032
|
NM_015910.6(WDPCP):c.-227C>G
|
rs376940318
|
0.00006
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_024685.4(BBS10):c.*177T>G
|
rs189856910
|
0.00003
|
NM_031885.5(BBS2):c.-146G>A
|
rs886052153
|
0.00003
|
NM_033028.5(BBS4):c.*855_*856del
|
rs748809330
|
0.00003
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
NM_015910.6(WDPCP):c.-301G>A
|
rs886056227
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_024685.3(BBS10):c.-66C>T
|
rs886049854
|
0.00001
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
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_012210.4(TRIM32):c.*811del
|
rs886063382
|
|
NM_015910.6(WDPCP):c.-322delT
|
rs886056228
|
|
NM_015910.7(WDPCP):c.*138GTTT[1]
|
rs886056221
|
|
NM_015910.7(WDPCP):c.*586AG[2]
|
rs886056220
|
|
NM_015910.7(WDPCP):c.-108GCG[6]
|
rs563531309
|
|
NM_024649.5(BBS1):c.*562_*563dup
|
rs886048529
|
|
NM_024685.4(BBS10):c.*1189dup
|
rs886049840
|
|
NM_024685.4(BBS10):c.*1241_*1244del
|
rs886049838
|
|
NM_024685.4(BBS10):c.*641AT[2]
|
rs886049845
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
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.7209+11_7209+14del
|
rs750259100
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_170784.3(MKKS):c.-417-13dup
|
rs528193828
|
|
NM_170784.3(MKKS):c.-649+2292del
|
rs566962031
|
|
NM_176824.3(BBS7):c.*1209_*1211del
|
rs886059048
|
|
NM_198428.3(BBS9):c.*778_*780dup
|
rs886062289
|
|
NM_198428.3(BBS9):c.-37dup
|
rs886062282
|
|