NM_019098.5(CNGB3):c.*29G>T
|
rs138432513
|
0.00309
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
NM_019098.5(CNGB3):c.*1459C>T
|
rs192543896
|
0.00178
|
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln)
|
rs147189545
|
0.00152
|
NM_006329.4(FBLN5):c.*648G>A
|
rs182435130
|
0.00140
|
NM_001099667.3(ARMS2):c.*251T>C
|
rs578150200
|
0.00136
|
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
|
rs112573107
|
0.00124
|
NM_019098.4(CNGB3):c.-32T>C
|
rs376141938
|
0.00123
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_031935.3(HMCN1):c.-151C>A
|
rs143020055
|
0.00118
|
NM_001319074.4(RAX2):c.432G>A (p.Ala144=)
|
rs149918940
|
0.00108
|
NM_019098.5(CNGB3):c.*1183T>C
|
rs78927155
|
0.00096
|
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser)
|
rs144994573
|
0.00096
|
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp)
|
rs146671871
|
0.00093
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_006017.3(PROM1):c.*1149A>G
|
rs543722299
|
0.00083
|
NM_001319074.4(RAX2):c.*368C>T
|
rs756898228
|
0.00076
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)
|
rs121434382
|
0.00070
|
NM_006017.3(PROM1):c.*189A>G
|
rs537324748
|
0.00068
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala)
|
rs201865736
|
0.00063
|
NM_031935.3(HMCN1):c.*418A>G
|
rs756210638
|
0.00060
|
NM_000064.4(C3):c.1898A>G (p.Lys633Arg)
|
rs140655115
|
0.00058
|
NM_031935.3(HMCN1):c.*588T>C
|
rs1029168553
|
0.00058
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
|
rs138214338
|
0.00053
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
NM_019098.5(CNGB3):c.*51C>T
|
rs189210452
|
0.00051
|
NM_022726.4(ELOVL4):c.*217C>G
|
rs537775144
|
0.00051
|
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_006329.4(FBLN5):c.*363C>T
|
rs536827304
|
0.00049
|
NM_022726.4(ELOVL4):c.*1511G>A
|
rs547251322
|
0.00049
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_031935.3(HMCN1):c.16460G>A (p.Arg5487His)
|
rs184128357
|
0.00047
|
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=)
|
rs146430539
|
0.00047
|
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
|
rs145398864
|
0.00046
|
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe)
|
rs137903471
|
0.00045
|
NM_000063.6(C2):c.1413C>T (p.Asn471=)
|
rs138221333
|
0.00041
|
NM_000064.4(C3):c.1855G>A (p.Val619Met)
|
rs146613648
|
0.00041
|
NM_001319074.4(RAX2):c.*776C>T
|
rs887917665
|
0.00041
|
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr)
|
rs150811327
|
0.00041
|
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser)
|
rs141099682
|
0.00040
|
NM_000064.4(C3):c.-44C>T
|
rs773043245
|
0.00039
|
NM_031935.3(HMCN1):c.11404+11G>A
|
rs187354891
|
0.00039
|
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
|
rs145889775
|
0.00038
|
NM_006017.3(PROM1):c.-168G>A
|
rs180926533
|
0.00037
|
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val)
|
rs138409434
|
0.00037
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=)
|
rs140981285
|
0.00036
|
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=)
|
rs141371119
|
0.00036
|
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)
|
rs148265876
|
0.00036
|
NM_000064.4(C3):c.4827C>T (p.Ser1609=)
|
rs150537373
|
0.00035
|
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly)
|
rs182468717
|
0.00035
|
NM_000064.4(C3):c.4824C>T (p.Ser1608=)
|
rs139457470
|
0.00034
|
NM_019098.5(CNGB3):c.*737T>C
|
rs146999298
|
0.00034
|
NM_031935.3(HMCN1):c.*669A>G
|
rs577673255
|
0.00034
|
NM_006329.4(FBLN5):c.*121C>T
|
rs548351890
|
0.00033
|
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)
|
rs201563661
|
0.00033
|
NM_000063.6(C2):c.1450A>G (p.Ile484Val)
|
rs145988012
|
0.00031
|
NM_000063.6(C2):c.929A>G (p.Asn310Ser)
|
rs144201432
|
0.00031
|
NM_000064.4(C3):c.2799G>A (p.Pro933=)
|
rs149209011
|
0.00031
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val)
|
rs145595000
|
0.00031
|
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=)
|
rs149752078
|
0.00031
|
NM_022726.4(ELOVL4):c.*1048G>A
|
rs569179100
|
0.00030
|
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=)
|
rs140778669
|
0.00030
|
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)
|
rs140296295
|
0.00030
|
NM_000063.6(C2):c.73C>T (p.Pro25Ser)
|
rs200095096
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile)
|
rs145758069
|
0.00029
|
NM_001099667.3(ARMS2):c.39G>A (p.Ala13=)
|
rs200123144
|
0.00028
|
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val)
|
rs41317503
|
0.00028
|
NM_000063.6(C2):c.749C>G (p.Ser250Cys)
|
rs150827255
|
0.00027
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006329.4(FBLN5):c.989+9C>T
|
rs557362799
|
0.00026
|
NM_031935.3(HMCN1):c.*92A>G
|
rs558737295
|
0.00026
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_006329.4(FBLN5):c.862+12C>T
|
rs202088447
|
0.00025
|
NM_019098.5(CNGB3):c.*1371G>T
|
rs372688369
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_031935.3(HMCN1):c.1021+8T>C
|
rs199547255
|
0.00024
|
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile)
|
rs199585281
|
0.00024
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met)
|
rs201379680
|
0.00023
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val)
|
rs141213545
|
0.00021
|
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His)
|
rs148097981
|
0.00021
|
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln)
|
rs121908280
|
0.00019
|
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)
|
rs142907552
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_019098.5(CNGB3):c.*798A>C
|
rs886063157
|
0.00019
|
NM_022726.4(ELOVL4):c.*349C>T
|
rs1042694825
|
0.00019
|
NM_031935.3(HMCN1):c.15440-9C>T
|
rs374670687
|
0.00019
|
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
|
rs138440972
|
0.00018
|
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala)
|
rs147116781
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_022726.4(ELOVL4):c.*146A>T
|
rs1042725955
|
0.00017
|
NM_022726.4(ELOVL4):c.*327A>G
|
rs1001220828
|
0.00017
|
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser)
|
rs376910631
|
0.00017
|
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)
|
rs199920138
|
0.00017
|
NM_000063.6(C2):c.*82C>T
|
rs747202032
|
0.00016
|
NM_000063.6(C2):c.1716G>C (p.Lys572Asn)
|
rs376278843
|
0.00016
|
NM_000064.4(C3):c.2157G>A (p.Ala719=)
|
rs143671993
|
0.00016
|
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)
|
rs200710798
|
0.00016
|
NM_019098.5(CNGB3):c.*499G>C
|
rs540507221
|
0.00016
|
NM_031935.3(HMCN1):c.*872C>T
|
rs746238036
|
0.00016
|
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
|
rs139899015
|
0.00016
|
NM_019098.5(CNGB3):c.*84C>T
|
rs372938106
|
0.00015
|
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
|
rs781513060
|
0.00015
|
NM_000063.6(C2):c.1169A>C (p.Asp390Ala)
|
rs142088624
|
0.00014
|
NM_000063.6(C2):c.1613C>T (p.Ala538Val)
|
rs140194348
|
0.00014
|
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)
|
rs201816520
|
0.00014
|
NM_001319074.4(RAX2):c.*201C>T
|
rs565417258
|
0.00014
|
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)
|
rs148660796
|
0.00014
|
NM_019098.5(CNGB3):c.*649A>G
|
rs778028865
|
0.00014
|
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
|
rs199574143
|
0.00014
|
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu)
|
rs199984579
|
0.00014
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00013
|
NM_019098.5(CNGB3):c.*1470G>C
|
rs568808064
|
0.00013
|
NM_019098.5(CNGB3):c.*293T>C
|
rs141717983
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)
|
rs144347980
|
0.00013
|
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=)
|
rs147891898
|
0.00013
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000064.4(C3):c.681C>T (p.Tyr227=)
|
rs756694755
|
0.00012
|
NM_001319074.4(RAX2):c.*501C>T
|
rs891425007
|
0.00012
|
NM_000063.6(C2):c.1577A>G (p.Lys526Arg)
|
rs146054348
|
0.00011
|
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)
|
rs139100972
|
0.00011
|
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)
|
rs369512467
|
0.00011
|
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
|
rs369815021
|
0.00011
|
NM_019098.5(CNGB3):c.*108C>T
|
rs1031324821
|
0.00011
|
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)
|
rs377730576
|
0.00011
|
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)
|
rs138320784
|
0.00011
|
NM_031935.3(HMCN1):c.*327C>A
|
rs541810746
|
0.00011
|
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr)
|
rs145955451
|
0.00011
|
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
|
rs757430423
|
0.00011
|
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln)
|
rs202206115
|
0.00011
|
NM_000064.4(C3):c.4030-4C>T
|
rs372612816
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_022726.4(ELOVL4):c.*1020A>G
|
rs563759730
|
0.00010
|
NM_022726.4(ELOVL4):c.*1506A>G
|
rs886061798
|
0.00010
|
NM_031935.3(HMCN1):c.*18A>G
|
rs202061344
|
0.00010
|
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu)
|
rs372803002
|
0.00010
|
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=)
|
rs181852740
|
0.00010
|
NM_000063.6(C2):c.2253C>T (p.Pro751=)
|
rs771797450
|
0.00009
|
NM_000064.4(C3):c.2797-5C>T
|
rs369673832
|
0.00009
|
NM_000064.4(C3):c.3687C>T (p.Asn1229=)
|
rs201108539
|
0.00009
|
NM_000064.4(C3):c.4535G>A (p.Arg1512His)
|
rs142868256
|
0.00009
|
NM_000064.4(C3):c.835G>A (p.Glu279Lys)
|
rs146167974
|
0.00009
|
NM_000064.4(C3):c.928G>A (p.Gly310Arg)
|
rs139527231
|
0.00009
|
NM_006329.4(FBLN5):c.*98G>A
|
rs568348723
|
0.00009
|
NM_031935.3(HMCN1):c.*884C>G
|
rs753718697
|
0.00009
|
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=)
|
rs41317461
|
0.00009
|
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
|
rs77460954
|
0.00009
|
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser)
|
rs143393655
|
0.00009
|
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)
|
rs199945360
|
0.00009
|
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln)
|
rs116409560
|
0.00009
|
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile)
|
rs376810057
|
0.00009
|
NM_006329.4(FBLN5):c.*426C>T
|
rs553193064
|
0.00008
|
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)
|
rs752692827
|
0.00008
|
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr)
|
rs754660196
|
0.00008
|
NM_000063.6(C2):c.1109C>T (p.Ala370Val)
|
rs777200072
|
0.00007
|
NM_000063.6(C2):c.980A>G (p.Asn327Ser)
|
rs766665783
|
0.00007
|
NM_000064.4(C3):c.1758G>A (p.Glu586=)
|
rs764201055
|
0.00007
|
NM_000064.4(C3):c.2207G>A (p.Arg736Gln)
|
rs578116271
|
0.00007
|
NM_001319074.4(RAX2):c.-286G>T
|
rs563046576
|
0.00007
|
NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)
|
rs978473853
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_006017.3(PROM1):c.717C>T (p.Gly239=)
|
rs763697898
|
0.00007
|
NM_006329.4(FBLN5):c.-413C>T
|
rs886050892
|
0.00007
|
NM_022726.4(ELOVL4):c.*1568A>G
|
rs886061796
|
0.00007
|
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu)
|
rs146636123
|
0.00007
|
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
|
rs776783939
|
0.00007
|
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
|
rs769706639
|
0.00007
|
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His)
|
rs370518238
|
0.00007
|
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys)
|
rs41317477
|
0.00007
|
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
|
rs201878929
|
0.00007
|
NM_000063.6(C2):c.442+15T>G
|
rs776839411
|
0.00006
|
NM_000064.4(C3):c.1098A>G (p.Pro366=)
|
rs757883156
|
0.00006
|
NM_000064.4(C3):c.1119+10G>A
|
rs752328639
|
0.00006
|
NM_000064.4(C3):c.1164C>T (p.Pro388=)
|
rs769368306
|
0.00006
|
NM_000064.4(C3):c.2907C>T (p.Asp969=)
|
rs144672500
|
0.00006
|
NM_000064.4(C3):c.4095C>G (p.Val1365=)
|
rs527830114
|
0.00006
|
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
|
rs768065757
|
0.00006
|
NM_000064.4(C3):c.763A>G (p.Ile255Val)
|
rs746486431
|
0.00006
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
NM_000186.4(CFH):c.3310+12T>C
|
rs757045842
|
0.00006
|
NM_001099667.3(ARMS2):c.*15A>G
|
rs886046771
|
0.00006
|
NM_001319074.4(RAX2):c.83G>A (p.Arg28Gln)
|
rs199546013
|
0.00006
|
NM_006017.3(PROM1):c.*580T>A
|
rs1250583925
|
0.00006
|
NM_006017.3(PROM1):c.277-15C>T
|
rs372599685
|
0.00006
|
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)
|
rs150642676
|
0.00006
|
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)
|
rs373286939
|
0.00006
|
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)
|
rs202240228
|
0.00006
|
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
NM_022726.4(ELOVL4):c.-163C>A
|
rs374986643
|
0.00006
|
NM_031935.3(HMCN1):c.*689G>A
|
rs978833235
|
0.00006
|
NM_031935.3(HMCN1):c.13230+9C>T
|
rs573598298
|
0.00006
|
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr)
|
rs778062119
|
0.00006
|
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr)
|
rs747405345
|
0.00006
|
NM_031935.3(HMCN1):c.13582+11T>C
|
rs764698262
|
0.00006
|
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg)
|
rs375692254
|
0.00006
|
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
|
rs200601125
|
0.00006
|
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val)
|
rs371177035
|
0.00006
|
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=)
|
rs758248236
|
0.00006
|
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp)
|
rs376132541
|
0.00006
|
NM_000063.6(C2):c.*141C>T
|
rs1026987640
|
0.00005
|
NM_000063.6(C2):c.-36G>A
|
rs758966628
|
0.00005
|
NM_000063.6(C2):c.386G>A (p.Arg129His)
|
rs367996721
|
0.00005
|
NM_000064.4(C3):c.1119+14C>T
|
rs374368486
|
0.00005
|
NM_000064.4(C3):c.1470C>T (p.Tyr490=)
|
rs762635358
|
0.00005
|
NM_000064.4(C3):c.1819A>G (p.Lys607Glu)
|
rs140637006
|
0.00005
|
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)
|
rs769873702
|
0.00005
|
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)
|
rs140928439
|
0.00005
|
NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln)
|
rs370757303
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)
|
rs752543587
|
0.00005
|
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)
|
rs377360782
|
0.00005
|
NM_022726.4(ELOVL4):c.-35C>T
|
rs751105802
|
0.00005
|
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=)
|
rs150757082
|
0.00005
|
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met)
|
rs146247104
|
0.00005
|
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys)
|
rs370251638
|
0.00005
|
NM_031935.3(HMCN1):c.4348+11C>T
|
rs755881880
|
0.00005
|
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser)
|
rs772105060
|
0.00005
|
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln)
|
rs777060812
|
0.00005
|
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)
|
rs183725854
|
0.00005
|
NM_000063.6(C2):c.1981G>A (p.Asp661Asn)
|
rs374481091
|
0.00004
|
NM_000063.6(C2):c.245C>T (p.Ala82Val)
|
rs547881286
|
0.00004
|
NM_000064.4(C3):c.1508C>T (p.Ala503Val)
|
rs781417846
|
0.00004
|
NM_000064.4(C3):c.3024G>A (p.Ser1008=)
|
rs779366181
|
0.00004
|
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro)
|
rs750654763
|
0.00004
|
NM_000064.4(C3):c.4353C>G (p.Val1451=)
|
rs750821412
|
0.00004
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
NM_000186.4(CFH):c.2596+8G>T
|
rs375176505
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
|
rs142937931
|
0.00004
|
NM_001319074.4(RAX2):c.*624G>A
|
rs886054368
|
0.00004
|
NM_001319074.4(RAX2):c.*751G>A
|
rs901586216
|
0.00004
|
NM_001319074.4(RAX2):c.*784C>T
|
rs929531306
|
0.00004
|
NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)
|
rs1025462223
|
0.00004
|
NM_006017.3(PROM1):c.*1070A>G
|
rs886059195
|
0.00004
|
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)
|
rs778896066
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
0.00004
|
NM_006329.4(FBLN5):c.273G>A (p.Pro91=)
|
rs368771780
|
0.00004
|
NM_019098.5(CNGB3):c.*206G>A
|
rs886063159
|
0.00004
|
NM_019098.5(CNGB3):c.*570T>C
|
rs965656666
|
0.00004
|
NM_019098.5(CNGB3):c.*731C>T
|
rs886063158
|
0.00004
|
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)
|
rs3735971
|
0.00004
|
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)
|
rs375288585
|
0.00004
|
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)
|
rs150490913
|
0.00004
|
NM_031935.3(HMCN1):c.-87T>C
|
rs886045658
|
0.00004
|
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser)
|
rs367750334
|
0.00004
|
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln)
|
rs565996021
|
0.00004
|
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val)
|
rs146177894
|
0.00004
|
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu)
|
rs202140956
|
0.00004
|
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=)
|
rs764895427
|
0.00004
|
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)
|
rs754953588
|
0.00004
|
NM_031935.3(HMCN1):c.15689-7T>C
|
rs370901552
|
0.00004
|
NM_031935.3(HMCN1):c.3048+12A>G
|
rs759007264
|
0.00004
|
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe)
|
rs369263478
|
0.00004
|
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys)
|
rs575710648
|
0.00004
|
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)
|
rs201953947
|
0.00004
|
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)
|
rs140480677
|
0.00004
|
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=)
|
rs747509922
|
0.00004
|
NM_031935.3(HMCN1):c.6701-4G>C
|
rs780518184
|
0.00004
|
NM_031935.3(HMCN1):c.8485+14C>T
|
rs201345841
|
0.00004
|
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)
|
rs142475663
|
0.00004
|
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=)
|
rs745727347
|
0.00004
|
NM_031935.3(HMCN1):c.9446-10T>A
|
rs753374697
|
0.00004
|
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
|
rs1404028877
|
0.00004
|
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met)
|
rs367681878
|
0.00004
|
NM_000063.6(C2):c.*286T>C
|
rs948285998
|
0.00003
|
NM_000064.4(C3):c.48C>A (p.His16Gln)
|
rs184455094
|
0.00003
|
NM_000186.4(CFH):c.770G>A (p.Arg257His)
|
rs140107330
|
0.00003
|
NM_001319074.4(RAX2):c.*1523T>C
|
rs775609621
|
0.00003
|
NM_001319074.4(RAX2):c.*248C>T
|
rs1418917467
|
0.00003
|
NM_001319074.4(RAX2):c.-269+8C>T
|
rs886054370
|
0.00003
|
NM_001319074.4(RAX2):c.385G>A (p.Val129Met)
|
rs758285438
|
0.00003
|
NM_006329.4(FBLN5):c.*458T>C
|
rs886050887
|
0.00003
|
NM_019098.5(CNGB3):c.*1476T>A
|
rs914165933
|
0.00003
|
NM_022726.4(ELOVL4):c.-235C>T
|
rs886061804
|
0.00003
|
NM_031935.3(HMCN1):c.-121A>G
|
rs1413424553
|
0.00003
|
NM_031935.3(HMCN1):c.-156G>A
|
rs886045657
|
0.00003
|
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile)
|
rs773110395
|
0.00003
|
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)
|
rs766042341
|
0.00003
|
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=)
|
rs886045684
|
0.00003
|
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)
|
rs373876634
|
0.00003
|
NM_031935.3(HMCN1):c.2098+12C>A
|
rs776336811
|
0.00003
|
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)
|
rs373402377
|
0.00003
|
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His)
|
rs527332989
|
0.00003
|
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=)
|
rs566865273
|
0.00003
|
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln)
|
rs777994384
|
0.00003
|
NM_031935.3(HMCN1):c.4910-14A>G
|
rs767012387
|
0.00003
|
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser)
|
rs199971679
|
0.00003
|
NM_031935.3(HMCN1):c.5852-12T>G
|
rs373816059
|
0.00003
|
NM_031935.3(HMCN1):c.8139+7C>A
|
rs201246528
|
0.00003
|
NM_000064.4(C3):c.1303G>A (p.Glu435Lys)
|
rs774826179
|
0.00002
|
NM_000064.4(C3):c.1685C>T (p.Ser562Leu)
|
rs200541526
|
0.00002
|
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
|
rs753019751
|
0.00002
|
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
|
rs1178318400
|
0.00002
|
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
|
rs749875053
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
|
rs764539113
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_001319074.4(RAX2):c.*195G>A
|
rs1449281671
|
0.00002
|
NM_001319074.4(RAX2):c.*918G>A
|
rs748630795
|
0.00002
|
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)
|
rs372632641
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_019098.5(CNGB3):c.*183A>C
|
rs1199541859
|
0.00002
|
NM_022726.4(ELOVL4):c.*1193T>C
|
rs975960939
|
0.00002
|
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala)
|
rs537694143
|
0.00002
|
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)
|
rs773577908
|
0.00002
|
NM_031935.3(HMCN1):c.15320-7C>T
|
rs745639179
|
0.00002
|
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
|
rs370909774
|
0.00002
|
NM_031935.3(HMCN1):c.16295-9C>T
|
rs760760319
|
0.00002
|
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=)
|
rs766591582
|
0.00002
|
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe)
|
rs367914815
|
0.00002
|
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)
|
rs146365142
|
0.00002
|
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys)
|
rs779454634
|
0.00002
|
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
|
rs200327975
|
0.00002
|
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=)
|
rs776416150
|
0.00002
|
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)
|
rs749154171
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_031935.3(HMCN1):c.9047-12A>G
|
rs767424930
|
0.00002
|
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=)
|
rs573229310
|
0.00002
|
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val)
|
rs779147330
|
0.00002
|
NM_000063.6(C2):c.1082C>T (p.Thr361Met)
|
rs61730574
|
0.00001
|
NM_000063.6(C2):c.283T>G (p.Phe95Val)
|
rs201023669
|
0.00001
|
NM_000063.6(C2):c.819C>T (p.Phe273=)
|
rs886360667
|
0.00001
|
NM_000064.4(C3):c.1042A>G (p.Ile348Val)
|
rs141737564
|
0.00001
|
NM_000064.4(C3):c.1296G>A (p.Ser432=)
|
rs760150621
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2583+9C>T
|
rs372400121
|
0.00001
|
NM_000064.4(C3):c.2646C>T (p.His882=)
|
rs377316231
|
0.00001
|
NM_000064.4(C3):c.2793C>T (p.Val931=)
|
rs781226831
|
0.00001
|
NM_000064.4(C3):c.3970-15C>G
|
rs1233140401
|
0.00001
|
NM_000064.4(C3):c.3993A>G (p.Thr1331=)
|
rs202210310
|
0.00001
|
NM_000064.4(C3):c.4121-4C>T
|
rs747452882
|
0.00001
|
NM_000064.4(C3):c.443G>A (p.Arg148Gln)
|
rs886054657
|
0.00001
|
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)
|
rs746985605
|
0.00001
|
NM_000064.4(C3):c.4850+12C>A
|
rs748416799
|
0.00001
|
NM_000064.4(C3):c.4941G>A (p.Gln1647=)
|
rs780251209
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
|
rs149938052
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.879G>A (p.Gln293=)
|
rs769615121
|
0.00001
|
NM_001099667.3(ARMS2):c.*313G>C
|
rs1237612173
|
0.00001
|
NM_001099667.3(ARMS2):c.23C>T (p.Pro8Leu)
|
rs778271975
|
0.00001
|
NM_001319074.4(RAX2):c.*1490A>G
|
rs1432848167
|
0.00001
|
NM_001319074.4(RAX2):c.*552C>T
|
rs760554835
|
0.00001
|
NM_001319074.4(RAX2):c.*667G>A
|
rs1477435359
|
0.00001
|
NM_001319074.4(RAX2):c.*687A>G
|
rs1208248243
|
0.00001
|
NM_001319074.4(RAX2):c.*972T>A
|
rs886054366
|
0.00001
|
NM_001319074.4(RAX2):c.134C>T (p.Ala45Val)
|
rs775581464
|
0.00001
|
NM_001319074.4(RAX2):c.19G>A (p.Glu7Lys)
|
rs556179949
|
0.00001
|
NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu)
|
rs774846243
|
0.00001
|
NM_001319074.4(RAX2):c.446A>G (p.His149Arg)
|
rs1230148971
|
0.00001
|
NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg)
|
rs766488722
|
0.00001
|
NM_006017.3(PROM1):c.*198T>C
|
rs1713762475
|
0.00001
|
NM_006017.3(PROM1):c.*681C>G
|
rs947805890
|
0.00001
|
NM_006017.3(PROM1):c.*781G>A
|
rs1713636052
|
0.00001
|
NM_006017.3(PROM1):c.*963A>G
|
rs886059196
|
0.00001
|
NM_006017.3(PROM1):c.*985C>G
|
rs937617123
|
0.00001
|
NM_006017.3(PROM1):c.-148G>A
|
rs75531222
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)
|
rs1297490531
|
0.00001
|
NM_006017.3(PROM1):c.1578+9G>C
|
rs747638667
|
0.00001
|
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)
|
rs886059201
|
0.00001
|
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)
|
rs931618095
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
0.00001
|
NM_006329.4(FBLN5):c.*419G>C
|
rs1451509746
|
0.00001
|
NM_006329.4(FBLN5):c.*653G>A
|
rs886050886
|
0.00001
|
NM_006329.4(FBLN5):c.*775A>C
|
rs886050885
|
0.00001
|
NM_006329.4(FBLN5):c.*77T>A
|
rs1326922015
|
0.00001
|
NM_006329.4(FBLN5):c.-382C>G
|
rs886050890
|
0.00001
|
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)
|
rs886050889
|
0.00001
|
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)
|
rs1221579102
|
0.00001
|
NM_006329.4(FBLN5):c.573A>G (p.Thr191=)
|
rs756288143
|
0.00001
|
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805
|
0.00001
|
NM_019098.4(CNGB3):c.*1701C>T
|
rs886063154
|
0.00001
|
NM_019098.5(CNGB3):c.*1218C>T
|
rs1054383456
|
0.00001
|
NM_019098.5(CNGB3):c.*1368T>C
|
rs886063155
|
0.00001
|
NM_019098.5(CNGB3):c.*1431G>A
|
rs1337904740
|
0.00001
|
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)
|
rs886063160
|
0.00001
|
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)
|
rs373679269
|
0.00001
|
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)
|
rs751667290
|
0.00001
|
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)
|
rs1410218983
|
0.00001
|
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)
|
rs750535143
|
0.00001
|
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)
|
rs1823848358
|
0.00001
|
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)
|
rs781628736
|
0.00001
|
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)
|
rs886063162
|
0.00001
|
NM_022726.4(ELOVL4):c.*125C>A
|
rs181283522
|
0.00001
|
NM_022726.4(ELOVL4):c.*240C>T
|
rs886061801
|
0.00001
|
NM_022726.4(ELOVL4):c.*309T>C
|
rs1034507611
|
0.00001
|
NM_022726.4(ELOVL4):c.*363G>A
|
rs1376229769
|
0.00001
|
NM_022726.4(ELOVL4):c.*606G>T
|
rs907879501
|
0.00001
|
NM_022726.4(ELOVL4):c.*803T>C
|
rs542722575
|
0.00001
|
NM_022726.4(ELOVL4):c.*905T>C
|
rs886061799
|
0.00001
|
NM_022726.4(ELOVL4):c.*950T>C
|
rs1458099165
|
0.00001
|
NM_022726.4(ELOVL4):c.*999A>G
|
rs1172216845
|
0.00001
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)
|
rs769435926
|
0.00001
|
NM_031935.3(HMCN1):c.*234G>A
|
rs564259144
|
0.00001
|
NM_031935.3(HMCN1):c.*902G>C
|
rs886045698
|
0.00001
|
NM_031935.3(HMCN1):c.10230G>A (p.Val3410=)
|
rs747892157
|
0.00001
|
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr)
|
rs751358209
|
0.00001
|
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
|
rs746480984
|
0.00001
|
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
|
rs745313929
|
0.00001
|
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile)
|
rs569383096
|
0.00001
|
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
|
rs777770411
|
0.00001
|
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=)
|
rs752738056
|
0.00001
|
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=)
|
rs886045682
|
0.00001
|
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)
|
rs1160639880
|
0.00001
|
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
|
rs1400175925
|
0.00001
|
NM_031935.3(HMCN1):c.1285+7C>T
|
rs753115471
|
0.00001
|
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)
|
rs200984902
|
0.00001
|
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
|
rs563362752
|
0.00001
|
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=)
|
rs763275429
|
0.00001
|
NM_031935.3(HMCN1):c.13925-10G>C
|
rs755762622
|
0.00001
|
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp)
|
rs768284133
|
0.00001
|
NM_031935.3(HMCN1):c.14896+8T>A
|
rs767566761
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val)
|
rs767070754
|
0.00001
|
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn)
|
rs886045689
|
0.00001
|
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser)
|
rs777284205
|
0.00001
|
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
|
rs748823261
|
0.00001
|
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=)
|
rs373461955
|
0.00001
|
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=)
|
rs761197473
|
0.00001
|
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln)
|
rs748032823
|
0.00001
|
NM_031935.3(HMCN1):c.2670A>G (p.Pro890=)
|
rs201113609
|
0.00001
|
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser)
|
rs1418379831
|
0.00001
|
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=)
|
rs886045668
|
0.00001
|
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu)
|
rs780422973
|
0.00001
|
NM_031935.3(HMCN1):c.4200+6T>C
|
rs759273685
|
0.00001
|
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=)
|
rs886045670
|
0.00001
|
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn)
|
rs762354666
|
0.00001
|
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
|
rs1332606772
|
0.00001
|
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His)
|
rs886045671
|
0.00001
|
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=)
|
rs769758485
|
0.00001
|
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys)
|
rs149920975
|
0.00001
|
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=)
|
rs777752487
|
0.00001
|
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=)
|
rs368334157
|
0.00001
|
NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys)
|
rs1656752926
|
0.00001
|
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=)
|
rs767597600
|
0.00001
|
NM_031935.3(HMCN1):c.7426+15T>A
|
rs1198026867
|
0.00001
|
NM_031935.3(HMCN1):c.793+9T>C
|
rs375021941
|
0.00001
|
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)
|
rs1172387552
|
0.00001
|
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala)
|
rs577435610
|
0.00001
|
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
|
rs201586866
|
0.00001
|
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=)
|
rs1221324876
|
0.00001
|
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr)
|
rs886045662
|
0.00001
|
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met)
|
rs556443296
|
0.00001
|
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu)
|
rs574155244
|
0.00001
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)
|
rs886045676
|
0.00001
|
NM_000063.5(C2):c.-37C>A
|
rs776263411
|
|
NM_000063.6(C2):c.*120T>C
|
rs886061294
|
|
NM_000063.6(C2):c.*183C>T
|
rs567255004
|
|
NM_000063.6(C2):c.-21G>A
|
rs764589447
|
|
NM_000063.6(C2):c.1066C>T (p.Leu356Phe)
|
rs886061293
|
|
NM_000063.6(C2):c.109C>T (p.Leu37Phe)
|
rs1310333522
|
|
NM_000063.6(C2):c.1239G>C (p.Val413=)
|
rs751253087
|
|
NM_000063.6(C2):c.149C>T (p.Ser50Phe)
|
rs1277611780
|
|
NM_000063.6(C2):c.1602T>C (p.Leu534=)
|
rs767886405
|
|
NM_000063.6(C2):c.2201G>T (p.Arg734Leu)
|
rs146067615
|
|
NM_000063.6(C2):c.313G>A (p.Gly105Arg)
|
rs886061292
|
|
NM_000063.6(C2):c.337G>A (p.Val113Met)
|
rs1769482101
|
|
NM_000063.6(C2):c.913C>T (p.Leu305Phe)
|
rs1562601398
|
|
NM_000064.3(C3):c.-75A>C
|
rs1316357912
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1686+10C>T
|
rs776885748
|
|
NM_000064.4(C3):c.1725T>C (p.Pro575=)
|
rs1967865144
|
|
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
|
rs1967690681
|
|
NM_000064.4(C3):c.2429C>T (p.Ser810Leu)
|
rs781280055
|
|
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
|
rs1967565745
|
|
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
|
rs1967565177
|
|
NM_000064.4(C3):c.267+9A>G
|
rs762058420
|
|
NM_000064.4(C3):c.2670C>G (p.Pro890=)
|
rs137956083
|
|
NM_000064.4(C3):c.2700C>G (p.Ile900Met)
|
rs763155610
|
|
NM_000064.4(C3):c.2857G>A (p.Gly953Ser)
|
rs779124363
|
|
NM_000064.4(C3):c.2863+15G>T
|
rs759976981
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser)
|
rs1918001974
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4645C>T (p.Leu1549=)
|
rs149202905
|
|
NM_000064.4(C3):c.819C>T (p.Phe273=)
|
rs886054656
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_001099667.3(ARMS2):c.*399A>G
|
rs2097478012
|
|
NM_001099667.3(ARMS2):c.-60G>T
|
rs886046769
|
|
NM_001319074.4(RAX2):c.*1483C>T
|
rs886054363
|
|
NM_001319074.4(RAX2):c.*194C>G
|
rs11883056
|
|
NM_001319074.4(RAX2):c.*263C>T
|
rs1568400313
|
|
NM_001319074.4(RAX2):c.*7C>T
|
rs781395665
|
|
NM_001319074.4(RAX2):c.*88C>T
|
rs886054369
|
|
NM_001319074.4(RAX2):c.*897C>T
|
rs2037229349
|
|
NM_001319074.4(RAX2):c.*949C>T
|
rs886054367
|
|
NM_001319074.4(RAX2):c.-275G>A
|
rs1184528094
|
|
NM_001319074.4(RAX2):c.-319C>A
|
rs886054371
|
|
NM_001319074.4(RAX2):c.217-11G>C
|
rs762459292
|
|
NM_001319074.4(RAX2):c.217-8C>A
|
rs79588413
|
|
NM_001319074.4(RAX2):c.76A>C (p.Lys26Gln)
|
rs370364475
|
|
NM_006017.3(PROM1):c.*107G>T
|
rs1024479425
|
|
NM_006017.3(PROM1):c.*1143A>C
|
rs544424652
|
|
NM_006017.3(PROM1):c.*1160A>G
|
rs886059194
|
|
NM_006017.3(PROM1):c.*551A>T
|
rs886059197
|
|
NM_006017.3(PROM1):c.*640T>A
|
rs1713667197
|
|
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)
|
rs1414948996
|
|
NM_006017.3(PROM1):c.105A>G (p.Glu35=)
|
rs886059205
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)
|
rs886059202
|
|
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)
|
rs200710798
|
|
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)
|
rs886059200
|
|
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)
|
rs768320190
|
|
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)
|
rs530749007
|
|
NM_006017.3(PROM1):c.2281-5C>G
|
rs777654968
|
|
NM_006017.3(PROM1):c.2373+13C>G
|
rs886059199
|
|
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)
|
rs886059198
|
|
NM_006017.3(PROM1):c.2489+8T>C
|
rs1433533825
|
|
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)
|
rs534529507
|
|
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)
|
rs1734560540
|
|
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)
|
rs1733212554
|
|
NM_006329.4(FBLN5):c.-139C>T
|
rs554315938
|
|
NM_006329.4(FBLN5):c.-389C>A
|
rs886050891
|
|
NM_006329.4(FBLN5):c.-428G>C
|
rs886050893
|
|
NM_006329.4(FBLN5):c.-77C>G
|
rs751344551
|
|
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)
|
rs754104809
|
|
NM_006329.4(FBLN5):c.124+8C>A
|
rs2056089374
|
|
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)
|
rs886050888
|
|
NM_006329.4(FBLN5):c.726C>G (p.Gly242=)
|
rs148209555
|
|
NM_019098.4(CNGB3):c.*1654C>T
|
rs796676165
|
|
NM_019098.4(CNGB3):c.*1705A>C
|
rs982329960
|
|
NM_019098.4(CNGB3):c.*1733T>C
|
rs970889903
|
|
NM_019098.5(CNGB3):c.*1093C>T
|
rs886063156
|
|
NM_019098.5(CNGB3):c.*1143T>C
|
rs1821625317
|
|
NM_019098.5(CNGB3):c.*272G>T
|
rs1821641223
|
|
NM_019098.5(CNGB3):c.*291T>A
|
rs1821640855
|
|
NM_019098.5(CNGB3):c.*379T>G
|
rs188787381
|
|
NM_019098.5(CNGB3):c.*435G>A
|
rs964834349
|
|
NM_019098.5(CNGB3):c.*800C>G
|
rs1028298142
|
|
NM_019098.5(CNGB3):c.-1G>A
|
rs1825379377
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)
|
rs771889150
|
|
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)
|
rs1822365271
|
|
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)
|
rs1821645749
|
|
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)
|
rs778184687
|
|
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)
|
rs758681401
|
|
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)
|
rs1456633980
|
|
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)
|
rs1823317372
|
|
NM_022726.4(ELOVL4):c.*1038A>G
|
rs578261043
|
|
NM_022726.4(ELOVL4):c.*1241T>G
|
rs1582042288
|
|
NM_022726.4(ELOVL4):c.*1423A>G
|
rs1774136809
|
|
NM_022726.4(ELOVL4):c.*163C>T
|
rs945949866
|
|
NM_022726.4(ELOVL4):c.*373A>T
|
rs886061800
|
|
NM_022726.4(ELOVL4):c.-125C>G
|
rs886061803
|
|
NM_022726.4(ELOVL4):c.-1G>A
|
rs1330070846
|
|
NM_022726.4(ELOVL4):c.-236C>G
|
rs240307
|
|
NM_022726.4(ELOVL4):c.-248G>A
|
rs886061805
|
|
NM_022726.4(ELOVL4):c.-258C>T
|
rs886061806
|
|
NM_022726.4(ELOVL4):c.-262A>G
|
rs886061807
|
|
NM_022726.4(ELOVL4):c.101-6C>G
|
rs1774344408
|
|
NM_022726.4(ELOVL4):c.215del (p.Pro72fs)
|
rs746047636
|
|
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)
|
rs886061802
|
|
NM_031935.3(HMCN1):c.*223A>G
|
rs1653630018
|
|
NM_031935.3(HMCN1):c.*396T>G
|
rs886045694
|
|
NM_031935.3(HMCN1):c.*927T>C
|
rs886045699
|
|
NM_031935.3(HMCN1):c.*982T>G
|
rs886045700
|
|
NM_031935.3(HMCN1):c.-40T>C
|
rs886045659
|
|
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln)
|
rs369620574
|
|
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu)
|
rs886045679
|
|
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro)
|
rs141818688
|
|
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
|
rs145492995
|
|
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr)
|
rs886045680
|
|
NM_031935.3(HMCN1):c.11404+11G>T
|
rs187354891
|
|
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro)
|
rs1661087003
|
|
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu)
|
rs761533889
|
|
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr)
|
rs886045681
|
|
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=)
|
rs752889177
|
|
NM_031935.3(HMCN1):c.12047G>T (p.Ser4016Ile)
|
rs1661313788
|
|
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser)
|
rs1661480969
|
|
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro)
|
rs1661739529
|
|
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala)
|
rs886045683
|
|
NM_031935.3(HMCN1):c.12936A>G (p.Glu4312=)
|
rs1661842867
|
|
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe)
|
rs372109906
|
|
NM_031935.3(HMCN1):c.13231-12T>G
|
rs1661981826
|
|
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)
|
rs367723447
|
|
NM_031935.3(HMCN1):c.14437+6C>T
|
rs972515280
|
|
NM_031935.3(HMCN1):c.14608+14T>G
|
rs150050864
|
|
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met)
|
rs886045686
|
|
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)
|
rs138232561
|
|
NM_031935.3(HMCN1):c.15018+7T>A
|
rs886045687
|
|
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
|
rs749090856
|
|
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr)
|
rs886045688
|
|
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser)
|
rs142062263
|
|
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser)
|
rs1652220614
|
|
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=)
|
rs538516291
|
|
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile)
|
rs189951644
|
|
NM_031935.3(HMCN1):c.16414+12T>C
|
rs886045692
|
|
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=)
|
rs1653581731
|
|
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu)
|
rs886045693
|
|
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=)
|
rs749265997
|
|
NM_031935.3(HMCN1):c.1824G>T (p.Val608=)
|
rs756585754
|
|
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val)
|
rs886045663
|
|
NM_031935.3(HMCN1):c.2099-11G>A
|
rs886045664
|
|
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn)
|
rs886045665
|
|
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val)
|
rs886045666
|
|
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=)
|
rs775972475
|
|
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His)
|
rs886045667
|
|
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
|
rs568780532
|
|
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn)
|
rs1661793285
|
|
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu)
|
rs1468012804
|
|
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=)
|
rs368008071
|
|
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu)
|
rs1653190129
|
|
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=)
|
rs1653204941
|
|
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu)
|
rs886045669
|
|
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=)
|
rs767657987
|
|
NM_031935.3(HMCN1):c.4511del (p.Leu1504fs)
|
rs1558137982
|
|
NM_031935.3(HMCN1):c.4896T>C (p.His1632=)
|
rs377764090
|
|
NM_031935.3(HMCN1):c.5300+7G>T
|
rs367562861
|
|
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val)
|
rs376847972
|
|
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=)
|
rs1655949105
|
|
NM_031935.3(HMCN1):c.5852-1G>A
|
rs886045673
|
|
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=)
|
rs886045674
|
|
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=)
|
rs764699819
|
|
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro)
|
rs886045675
|
|
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp)
|
rs1335242665
|
|
NM_031935.3(HMCN1):c.782G>A (p.Arg261His)
|
rs753817944
|
|
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser)
|
rs1658366937
|
|
NM_031935.3(HMCN1):c.8600-14C>G
|
rs1254696195
|
|
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu)
|
rs1659149388
|
|
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe)
|
rs1659158548
|
|
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro)
|
rs752694815
|
|
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=)
|
rs886045677
|
|
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg)
|
rs886045678
|
|