|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
|
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)
|
rs763131369
|
0.00001
|
|
NM_031885.5(BBS2):c.986T>C (p.Met329Thr)
|
rs201146063
|
0.00001
|
|
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly)
|
rs1554442015
|
|
|
NM_000541.5(SAG):c.398C>T (p.Ser133Leu)
|
rs1324934886
|
|
|
NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)
|
rs1569226110
|
|
|
NM_001378328.1(CELSR1):c.5226+2T>A
|
rs1569141899
|
|
|
NM_001378328.1(CELSR1):c.5702-1G>C
|
rs1569133268
|
|
|
NM_001378328.1(CELSR1):c.6739+1G>A
|
rs1569124017
|
|
|
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)
|
rs1569227576
|
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
|
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs)
|
rs1553403917
|
|
|
NM_004183.4(BEST1):c.26T>G (p.Val9Gly)
|
rs281865205
|
|
|
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)
|
rs1565388478
|
|
|
NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)
|
rs1555099968
|
|
|
NM_004183.4(BEST1):c.544T>C (p.Trp182Arg)
|
rs1565390925
|
|
|
NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)
|
rs886039311
|
|
|
NM_004183.4(BEST1):c.888C>G (p.Asn296Lys)
|
rs1554963058
|
|
|
NM_006915.3(RP2):c.277del (p.Leu93fs)
|
|
|
|
NM_022787.4(NMNAT1):c.140T>A (p.Ile47Asn)
|
|
|
|
NM_024649.5(BBS1):c.1016A>T (p.His339Leu)
|
rs1389335279
|
|
|
NM_024649.5(BBS1):c.1285dup (p.Arg429fs)
|
rs1565287921
|
|
|
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
|
rs772917364
|
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
|
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
|
rs771325212
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
|
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)
|
rs1396840386
|
|
|
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)
|
rs1560658189
|
|
|
NM_206933.4(USH2A):c.1675A>C (p.Lys559Gln)
|
|
|