ClinVar Miner

List of variants reported as uncertain significance for age-related macular degeneration by Illumina Laboratory Services, Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 666
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HGVS dbSNP gnomAD frequency
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

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