NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_001886.3(CRYBA4):c.40-1G>C
|
rs142090709
|
0.00358
|
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)
|
rs548358901
|
0.00264
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)
|
rs138140155
|
0.00247
|
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
|
rs117757092
|
0.00232
|
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
|
rs202132697
|
0.00162
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)
|
rs150800688
|
0.00072
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)
|
rs80358194
|
0.00016
|
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys)
|
rs144736705
|
0.00013
|
NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly)
|
rs147344332
|
0.00007
|
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)
|
rs72549376
|
0.00001
|
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)
|
rs864309688
|
0.00001
|
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)
|
rs967959245
|
0.00001
|
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
|
rs566697767
|
0.00001
|
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)
|
rs758404955
|
0.00001
|
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)
|
rs587778873
|
|
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)
|
rs587778875
|
|
NM_000325.6(PITX2):c.344G>A (p.Arg115His)
|
rs104893862
|
|
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)
|
rs121909248
|
|
NM_000325.6(PITX2):c.500dup (p.Asn168fs)
|
rs1728875550
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp)
|
rs864309685
|
|
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)
|
rs397515625
|
|
NM_000496.2(CRYBB2):c.[343C>A;355G>A]
|
|
|
NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro)
|
rs864309683
|
|
NM_001034853.2(RPGR):c.1415-9A>G
|
rs2067278631
|
|
NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs)
|
rs864309702
|
|
NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs)
|
rs864309680
|
|
NM_001195.4(BFSP1):c.[1492delT];[812T>C]
|
|
|
NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)
|
rs557601555
|
|
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)
|
rs144451841
|
|
NM_001291867.2(NHS):c.2770del (p.Glu924fs)
|
rs864309679
|
|
NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter)
|
rs111534978
|
|
NM_001368894.2(PAX6):c.1119del (p.Thr374fs)
|
rs864309681
|
|
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)
|
rs587778874
|
|
NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn)
|
rs864309686
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter)
|
rs1297907614
|
|
NM_001453.3(FOXC1):c.478_482dup (p.Met161fs)
|
rs1762526126
|
|
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)
|
rs1183655796
|
|
NM_001453.3(FOXC1):c.518G>A (p.Arg173His)
|
rs1762526692
|
|
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)
|
rs878853070
|
|
NM_001853.4(COL9A3):c.1107+1G>C
|
rs1384292566
|
|
NM_001887.4(CRYBB1):c.368G>A (p.Arg123His)
|
rs864309682
|
|
NM_003380.5(VIM):c.15del (p.Val6fs)
|
rs864309690
|
|
NM_004076.4(CRYBB3):c.[493G>C];[493G>C]
|
rs74315490
|
|
NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg)
|
rs864309700
|
|
NM_004431.5(EPHA2):c.1978T>G (p.Phe660Val)
|
rs864309699
|
|
NM_005267.5(GJA8):c.119C>T (p.Ala40Val)
|
rs864309677
|
|
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)
|
rs864309703
|
|
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg)
|
rs1651887395
|
|
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu)
|
rs1651887603
|
|
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)
|
rs80358205
|
|
NM_005267.5(GJA8):c.89dup (p.Ile31fs)
|
rs864309684
|
|
NM_005360.5(MAF):c.819G>C (p.Glu273Asp)
|
rs864309678
|
|
NM_005360.5(MAF):c.880C>T (p.Arg294Trp)
|
rs864309695
|
|
NM_005360.5(MAF):c.915C>T (p.Cys305=)
|
rs864309692
|
|
NM_006891.4(CRYGD):c.448dup (p.Asp150fs)
|
rs864309701
|
|
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)
|
rs28931605
|
|
NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs)
|
rs864309696
|
|
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)
|
rs864309693
|
|
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val)
|
rs199728419
|
|
NM_015692.5(CPAMD8):c.4408-1G>A
|
rs369858688
|
|
NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)
|
rs864309689
|
|
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)
|
rs587778872
|
|
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)
|
rs864309691
|
|
NM_021954.4(GJA3):c.260C>T (p.Thr87Met)
|
rs864309687
|
|
NM_021954.4(GJA3):c.7G>C (p.Asp3His)
|
rs864309694
|
|
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
|
|
|
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)
|
rs1271498710
|
|
NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter)
|
rs369489185
|
|