ClinVar Miner

List of variants reported as uncertain significance for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1327
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HGVS dbSNP gnomAD frequency
NM_001161748.2(LIM2):c.231C>T (p.Ser77=) rs8111243 0.01252
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_018238.4(AGK):c.*1024C>T rs78124534 0.00609
NM_024513.4(FYCO1):c.*3057G>A rs537667165 0.00497
NM_014290.3(TDRD7):c.-83G>C rs373486700 0.00411
NM_018238.4(AGK):c.*933C>T rs73171606 0.00289
NM_014290.3(TDRD7):c.*191G>A rs185806845 0.00279
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_001538.4(HSF4):c.-186C>T rs772601480 0.00221
NM_001538.4(HSF4):c.-191C>G rs769427775 0.00220
NM_014290.3(TDRD7):c.-64A>G rs879522205 0.00204
NM_024513.4(FYCO1):c.*1445C>T rs143753654 0.00148
NM_024513.4(FYCO1):c.*3063G>A rs570276173 0.00140
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_014290.3(TDRD7):c.231C>T (p.Cys77=) rs143579801 0.00129
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) rs143080187 0.00094
NM_001538.4(HSF4):c.-244A>C rs754262946 0.00091
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys) rs140697341 0.00086
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_024513.4(FYCO1):c.*678A>G rs141954427 0.00080
NM_024513.4(FYCO1):c.*342C>T rs536237093 0.00079
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
NM_001538.4(HSF4):c.-211A>G rs369313270 0.00078
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_024513.4(FYCO1):c.*709C>T rs559852330 0.00072
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
NM_001161748.2(LIM2):c.57G>A (p.Leu19=) rs142517355 0.00068
NM_024513.4(FYCO1):c.*3583C>T rs575175874 0.00068
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_024513.4(FYCO1):c.1887C>T (p.Val629=) rs140372149 0.00066
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) rs146592828 0.00066
NM_024513.4(FYCO1):c.-214C>T rs576623682 0.00065
NM_001161748.2(LIM2):c.175+77T>C rs145192236 0.00063
NM_018238.4(AGK):c.*621T>C rs192654792 0.00060
NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys) rs150085001 0.00056
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn) rs561395667 0.00056
NM_004431.5(EPHA2):c.*284C>T rs537231128 0.00053
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_024513.4(FYCO1):c.*2771A>G rs759567503 0.00049
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp) rs144477083 0.00046
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_014290.3(TDRD7):c.-47G>A rs572084541 0.00043
NM_018238.4(AGK):c.*197C>T rs987287830 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) rs139107757 0.00042
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_024513.4(FYCO1):c.*3366T>G rs886058550 0.00040
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_024513.4(FYCO1):c.1549T>A (p.Phe517Ile) rs148594622 0.00038
NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) rs201764993 0.00038
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_003571.4(BFSP2):c.*159T>G rs540920442 0.00034
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His) rs149232677 0.00034
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His) rs151051126 0.00034
NM_014290.3(TDRD7):c.2791C>T (p.Pro931Ser) rs146083361 0.00033
NM_014290.3(TDRD7):c.444C>T (p.Asn148=) rs144510531 0.00033
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr) rs139604029 0.00032
NM_021954.4(GJA3):c.*2093A>C rs1040384781 0.00031
NM_024513.4(FYCO1):c.*3512T>A rs35867098 0.00031
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_001161748.2(LIM2):c.175+50G>A rs147625714 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_014290.3(TDRD7):c.2665A>G (p.Met889Val) rs149536158 0.00029
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_021954.4(GJA3):c.*1449C>T rs867076363 0.00029
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met) rs145017887 0.00027
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr) rs140135049 0.00027
NM_014290.3(TDRD7):c.-42G>C rs540892282 0.00027
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr) rs147718368 0.00026
NM_017541.4(CRYGS):c.215G>A (p.Arg72His) rs144812537 0.00026
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_024513.4(FYCO1):c.*2757C>A rs186073318 0.00025
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_015073.3(SIPA1L3):c.4808C>G (p.Pro1603Arg) rs769799297 0.00023
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_001887.4(CRYBB1):c.-7G>A rs200292741 0.00021
NM_003380.5(VIM):c.911G>A (p.Arg304Gln) rs552165238 0.00021
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_024513.4(FYCO1):c.*810G>A rs778420399 0.00021
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys) rs144172331 0.00020
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) rs142111893 0.00019
NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys) rs148083686 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_018238.4(AGK):c.*1301C>T rs553433680 0.00019
NM_024513.4(FYCO1):c.*3326G>A rs982945628 0.00019
NM_024513.4(FYCO1):c.2815G>C (p.Ala939Pro) rs531750827 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_001161748.2(LIM2):c.281G>A (p.Arg94His) rs770425768 0.00018
NM_004431.5(EPHA2):c.*845G>A rs181703453 0.00018
NM_012064.4(MIP):c.*969G>A rs543075454 0.00018
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_021954.4(GJA3):c.*2311A>C rs555846962 0.00017
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_014290.3(TDRD7):c.1694C>T (p.Pro565Leu) rs148718632 0.00016
NM_021954.4(GJA3):c.-41G>T rs886050024 0.00016
NM_021954.4(GJA3):c.852C>G (p.Ala284=) rs557677250 0.00016
NM_024513.4(FYCO1):c.337G>A (p.Val113Met) rs145897969 0.00016
NM_024513.4(FYCO1):c.443C>T (p.Ser148Leu) rs149818406 0.00016
NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp) rs142017802 0.00016
NM_153427.3(PITX2):c.-40G>A rs942688607 0.00016
NM_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_014290.3(TDRD7):c.3129T>C (p.His1043=) rs371279564 0.00015
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) rs142030761 0.00014
NM_004076.5(CRYBB3):c.-61C>T rs113563958 0.00014
NM_004076.5(CRYBB3):c.263G>A (p.Arg88His) rs138167578 0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_021954.4(GJA3):c.*1176A>C rs886050014 0.00014
NM_021954.4(GJA3):c.*2931A>G rs544693111 0.00014
NM_024513.4(FYCO1):c.546G>A (p.Thr182=) rs201372127 0.00014
NM_024513.4(FYCO1):c.678C>T (p.Asn226=) rs140730556 0.00014
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_012064.4(MIP):c.*601G>A rs565229690 0.00013
NM_014290.3(TDRD7):c.2257A>G (p.Ile753Val) rs201436824 0.00013
NM_014290.3(TDRD7):c.2267G>A (p.Arg756Gln) rs183885850 0.00013
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) rs141457141 0.00013
NM_018238.4(AGK):c.*1127C>A rs886062027 0.00013
NM_024513.4(FYCO1):c.3151-12G>A rs372806650 0.00013
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) rs375878222 0.00012
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu) rs376402047 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_014290.3(TDRD7):c.295C>T (p.Arg99Cys) rs200783564 0.00012
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) rs377677067 0.00012
NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln) rs142234866 0.00011
NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu) rs777977625 0.00011
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617 0.00011
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=) rs143828420 0.00011
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_014290.3(TDRD7):c.2080-15A>G rs372316746 0.00011
NM_021954.4(GJA3):c.*2107T>A rs553286295 0.00011
NM_021954.4(GJA3):c.*3509C>G rs966696205 0.00011
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) rs146763276 0.00010
NM_005210.4(CRYGB):c.44G>A (p.Arg15His) rs370450145 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_018238.4(AGK):c.*1237G>A rs202211411 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321 0.00010
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00009
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp) rs372210205 0.00009
NM_001538.4(HSF4):c.-198C>T rs893014096 0.00009
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_012064.4(MIP):c.*674G>A rs150155933 0.00009
NM_012064.4(MIP):c.713A>C (p.Lys238Thr) rs755752015 0.00009
NM_014290.3(TDRD7):c.1583C>T (p.Ala528Val) rs374337717 0.00009
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_024513.4(FYCO1):c.*176C>T rs544729621 0.00009
NM_024513.4(FYCO1):c.*3527G>A rs756372595 0.00009
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) rs72889997 0.00009
NM_000394.4(CRYAA):c.335G>A (p.Arg112His) rs200594555 0.00008
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys) rs369609046 0.00008
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp) rs139154341 0.00008
NM_001538.3(HSF4):c.*159T>C rs776129671 0.00008
NM_001887.4(CRYBB1):c.282C>T (p.Ile94=) rs372418411 0.00008
NM_003571.4(BFSP2):c.*132G>C rs578233592 0.00008
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His) rs138475231 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_014290.3(TDRD7):c.*220T>C rs1006051819 0.00008
NM_014290.3(TDRD7):c.579G>A (p.Ala193=) rs75516981 0.00008
NM_018238.4(AGK):c.*1126T>A rs1269074943 0.00008
NM_021954.4(GJA3):c.*2695C>T rs774238106 0.00008
NM_024513.4(FYCO1):c.*3278G>A rs546718807 0.00008
NM_024513.4(FYCO1):c.*988C>A rs912973615 0.00008
NM_001161748.2(LIM2):c.*245A>G rs758862764 0.00007
NM_001374675.1(HSF4):c.250G>C (p.Val84Leu) rs747840876 0.00007
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_012064.4(MIP):c.*1495T>C rs769951572 0.00007
NM_014290.3(TDRD7):c.987G>A (p.Pro329=) rs761704668 0.00007
NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp) rs768152063 0.00007
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln) rs755500518 0.00007
NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu) rs377256529 0.00007
NM_024513.4(FYCO1):c.4251+11G>A rs777307225 0.00007
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp) rs376164744 0.00006
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) rs770592991 0.00006
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) rs769620041 0.00006
NM_001161748.2(LIM2):c.108C>T (p.Ser36=) rs760441995 0.00006
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001887.4(CRYBB1):c.-6G>A rs200241940 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile) rs568736295 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) rs758613421 0.00006
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) rs148611943 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) rs769151204 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_014290.3(TDRD7):c.2039G>T (p.Ser680Ile) rs140111735 0.00006
NM_014290.3(TDRD7):c.2104T>A (p.Ser702Thr) rs946019953 0.00006
NM_014290.3(TDRD7):c.2251A>C (p.Arg751=) rs1171168935 0.00006
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) rs770394329 0.00006
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) rs774444626 0.00006
NM_024513.4(FYCO1):c.*2286T>C rs886058557 0.00006
NM_024513.4(FYCO1):c.*2301A>G rs886058556 0.00006
NM_024513.4(FYCO1):c.*3191G>A rs886058552 0.00006
NM_024513.4(FYCO1):c.*3502A>T rs753979161 0.00006
NM_024513.4(FYCO1):c.1933G>A (p.Asp645Asn) rs145238648 0.00006
NM_024513.4(FYCO1):c.2359C>T (p.Arg787Trp) rs200040076 0.00006
NM_024513.4(FYCO1):c.2433C>G (p.Ser811Arg) rs367782717 0.00006
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val) rs142098311 0.00006
NM_024513.4(FYCO1):c.3935C>T (p.Ala1312Val) rs140583635 0.00006
NM_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_001161748.2(LIM2):c.175+113G>C rs754470902 0.00005
NM_001161748.2(LIM2):c.40G>A (p.Val14Met) rs202081431 0.00005
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) rs534473091 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001374675.1(HSF4):c.*148T>G rs985380596 0.00005
NM_004431.5(EPHA2):c.*625G>A rs886045502 0.00005
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) rs374476265 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) rs199697430 0.00005
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) rs377712049 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) rs760434926 0.00005
NM_012064.4(MIP):c.*132del rs886049691 0.00005
NM_014290.3(TDRD7):c.1892A>G (p.Asn631Ser) rs376812712 0.00005
NM_014290.3(TDRD7):c.199T>C (p.Ser67Pro) rs148039648 0.00005
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_021954.4(GJA3):c.*1931G>C rs1244045985 0.00005
NM_021954.4(GJA3):c.*532A>G rs1169670475 0.00005
NM_024513.4(FYCO1):c.*1270T>C rs1296033449 0.00005
NM_024513.4(FYCO1):c.*2889C>A rs886058553 0.00005
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr) rs773568535 0.00004
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) rs1256600488 0.00004
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp) rs199896245 0.00004
NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr) rs758027535 0.00004
NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup) rs760351849 0.00004
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) rs200427106 0.00004
NM_001887.4(CRYBB1):c.*67C>G rs144489412 0.00004
NM_003380.5(VIM):c.758A>G (p.His253Arg) rs773762488 0.00004
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) rs1224719314 0.00004
NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn) rs886058007 0.00004
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp) rs200862865 0.00004
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=) rs147906885 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys) rs755475309 0.00004
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) rs754447639 0.00004
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn) rs200541087 0.00004
NM_005267.5(GJA8):c.1096G>A (p.Val366Met) rs782056871 0.00004
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) rs140407862 0.00004
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) rs773280611 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_014290.3(TDRD7):c.1261C>A (p.His421Asn) rs112811088 0.00004
NM_014290.3(TDRD7):c.1950C>T (p.Asp650=) rs769740908 0.00004
NM_014290.3(TDRD7):c.2872G>A (p.Ala958Thr) rs751158396 0.00004
NM_015221.4(DNMBP):c.1232G>A (p.Gly411Asp) rs757446966 0.00004
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala) rs375632598 0.00004
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) rs565745559 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_021954.4(GJA3):c.*101G>A rs886050019 0.00004
NM_021954.4(GJA3):c.*1365G>A rs1032039343 0.00004
NM_021954.4(GJA3):c.*1841C>T rs886050011 0.00004
NM_024513.4(FYCO1):c.*1398G>A rs757256026 0.00004
NM_024513.4(FYCO1):c.*2343G>A rs987356196 0.00004
NM_024513.4(FYCO1):c.107C>T (p.Thr36Met) rs762961354 0.00004
NM_024513.4(FYCO1):c.1676C>T (p.Pro559Leu) rs759805930 0.00004
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) rs745338967 0.00004
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His) rs375376263 0.00004
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00004
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly) rs778635228 0.00004
NM_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000394.4(CRYAA):c.*333G>A rs886057108 0.00003
NM_000394.4(CRYAA):c.*376G>C rs886057109 0.00003
NM_000394.4(CRYAA):c.*398G>A rs886057110 0.00003
NM_000394.4(CRYAA):c.245C>T (p.Pro82Leu) rs200183640 0.00003
NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) rs143992484 0.00003
NM_000394.4(CRYAA):c.481G>A (p.Val161Met) rs757584843 0.00003
NM_001161748.2(LIM2):c.175+28G>A rs199913969 0.00003
NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp) rs558484735 0.00003
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val) rs530186829 0.00003
NM_001886.3(CRYBA4):c.300+2T>C rs372271933 0.00003
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291 0.00003
NM_004431.5(EPHA2):c.*790C>T rs371642899 0.00003
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) rs758978165 0.00003
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) rs750878968 0.00003
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) rs373953344 0.00003
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=) rs199875761 0.00003
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=) rs749180343 0.00003
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) rs773038726 0.00003
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005267.5(GJA8):c.487G>A (p.Val163Met) rs374680617 0.00003
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) rs566587586 0.00003
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) rs377102310 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) rs546948362 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006891.4(CRYGD):c.-33A>G rs1044458149 0.00003
NM_012064.4(MIP):c.*136T>G rs1481521864 0.00003
NM_012064.4(MIP):c.*542C>T rs1400800798 0.00003
NM_012064.4(MIP):c.*955G>A rs1043213686 0.00003
NM_014290.3(TDRD7):c.2390A>G (p.Asn797Ser) rs747436777 0.00003
NM_014290.3(TDRD7):c.2679G>A (p.Thr893=) rs144693621 0.00003
NM_014290.3(TDRD7):c.54T>C (p.His18=) rs749676206 0.00003
NM_014290.3(TDRD7):c.700A>G (p.Met234Val) rs758372213 0.00003
NM_017541.4(CRYGS):c.236G>A (p.Arg79His) rs764969189 0.00003
NM_018238.4(AGK):c.*241A>G rs914935906 0.00003
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) rs762680550 0.00003
NM_021954.4(GJA3):c.*1232T>C rs886050013 0.00003
NM_021954.4(GJA3):c.*3108C>T rs886050006 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_024513.4(FYCO1):c.*132C>T rs886058563 0.00003
NM_024513.4(FYCO1):c.2389G>A (p.Ala797Thr) rs751988341 0.00003
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) rs751793566 0.00003
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) rs149020169 0.00003
NM_024513.4(FYCO1):c.833G>A (p.Arg278Lys) rs753095430 0.00003
NM_024513.4(FYCO1):c.868C>T (p.Arg290Cys) rs760164181 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala) rs765835212 0.00003
NM_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_000394.4(CRYAA):c.375C>A (p.Asp125Glu) rs886057104 0.00002
NM_000394.4(CRYAA):c.75G>C (p.Gln25His) rs754701447 0.00002
NM_001161748.2(LIM2):c.-41G>A rs539594698 0.00002
NM_001161748.2(LIM2):c.24C>T (p.Gly8=) rs147551022 0.00002
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln) rs765144287 0.00002
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala) rs756439203 0.00002
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile) rs752902567 0.00002
NM_001374675.1(HSF4):c.1325-1G>T rs142731757 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001538.3(HSF4):c.-874G>C rs936318443 0.00002
NM_001538.4(HSF4):c.-448A>G rs886052213 0.00002
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser) rs372922337 0.00002
NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys) rs374800624 0.00002
NM_001887.4(CRYBB1):c.357C>T (p.Gly119=) rs763685652 0.00002
NM_003380.5(VIM):c.1141C>T (p.Arg381Cys) rs749084801 0.00002
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_003571.4(BFSP2):c.396G>A (p.Leu132=) rs373365813 0.00002
NM_004431.5(EPHA2):c.*624C>T rs886045503 0.00002
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His) rs988452109 0.00002
NM_004431.5(EPHA2):c.303T>C (p.Thr101=) rs779193586 0.00002
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu) rs747087417 0.00002
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val) rs372094298 0.00002
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) rs782298787 0.00002
NM_005670.4(EPM2A):c.*1691G>A rs750320097 0.00002
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) rs767998582 0.00002
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) rs150394063 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) rs563972671 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 0.00002
NM_012064.4(MIP):c.*793C>A rs891386760 0.00002
NM_012064.4(MIP):c.424G>A (p.Val142Met) rs966166555 0.00002
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_014290.3(TDRD7):c.1276A>G (p.Ile426Val) rs766673237 0.00002
NM_014290.3(TDRD7):c.2001C>G (p.Leu667=) rs764337688 0.00002
NM_014290.3(TDRD7):c.2285T>C (p.Ile762Thr) rs746282969 0.00002
NM_014290.3(TDRD7):c.2524T>C (p.Trp842Arg) rs1274740363 0.00002
NM_014290.3(TDRD7):c.2605A>G (p.Met869Val) rs757817371 0.00002
NM_018238.4(AGK):c.*1319G>A rs535922151 0.00002
NM_018238.4(AGK):c.*758T>C rs1345762130 0.00002
NM_018238.4(AGK):c.-36G>A rs570988835 0.00002
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) rs568195338 0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile) rs747244579 0.00002
NM_021954.4(GJA3):c.*1535C>T rs1190517873 0.00002
NM_021954.4(GJA3):c.*2079A>G rs886050010 0.00002
NM_021954.4(GJA3):c.*3609G>A rs767584645 0.00002
NM_024513.4(FYCO1):c.*1411G>A rs868776572 0.00002
NM_024513.4(FYCO1):c.*2741G>A rs886058554 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00002
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00002
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile) rs371346118 0.00001
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr) rs1227057051 0.00001
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser) rs539443672 0.00001
NM_001161748.2(LIM2):c.*291T>C rs932195033 0.00001
NM_001161748.2(LIM2):c.-7+14G>A rs568064524 0.00001
NM_001161748.2(LIM2):c.174C>T (p.Ile58=) rs776429566 0.00001
NM_001161748.2(LIM2):c.175+30G>A rs376861251 0.00001
NM_001161748.2(LIM2):c.175+56C>T rs560748825 0.00001
NM_001161748.2(LIM2):c.175+87A>G rs369343996 0.00001
NM_001161748.2(LIM2):c.333C>T (p.Phe111=) rs566729340 0.00001
NM_001161748.2(LIM2):c.357C>T (p.Tyr119=) rs761154589 0.00001
NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln) rs191407731 0.00001
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln) rs780229198 0.00001
NM_001195.5(BFSP1):c.735+19C>T rs747126284 0.00001
NM_001289808.2(CRYAB):c.*60G>A rs540926728 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) rs1555165555 0.00001
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) rs781915800 0.00001
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu) rs759834255 0.00001
NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser) rs932918368 0.00001
NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala) rs760918985 0.00001
NM_001374675.1(HSF4):c.203T>C (p.Met68Thr) rs751405773 0.00001
NM_001374675.1(HSF4):c.401A>T (p.Glu134Val) rs368518618 0.00001
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly) rs753084587 0.00001
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) rs770940749 0.00001
NM_001538.3(HSF4):c.-759A>G rs777343855 0.00001
NM_001538.3(HSF4):c.-833C>T rs1332713508 0.00001
NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr) rs776573050 0.00001
NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu) rs1305546354 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NM_001887.4(CRYBB1):c.294G>A (p.Ala98=) rs760235124 0.00001
NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys) rs762762177 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu) rs886057326 0.00001
NM_001887.4(CRYBB1):c.576-3C>A rs142497666 0.00001
NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser) rs762942964 0.00001
NM_003380.5(VIM):c.134G>A (p.Arg45His) rs778098458 0.00001
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) rs773938980 0.00001
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg) rs746239628 0.00001
NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro) rs886058011 0.00001
NM_004076.5(CRYBB3):c.*143C>T rs886057294 0.00001
NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe) rs1232309133 0.00001
NM_004076.5(CRYBB3):c.328-8G>A rs756648232 0.00001
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752 0.00001
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys) rs375275387 0.00001
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300 0.00001
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln) rs200791666 0.00001
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp) rs752618205 0.00001
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=) rs373954142 0.00001
NM_004431.5(EPHA2):c.*273G>A rs1208362952 0.00001
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) rs761928478 0.00001
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg) rs1253625963 0.00001
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=) rs763210348 0.00001
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu) rs548968171 0.00001
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) rs765261745 0.00001
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) rs2024583180 0.00001
NM_004431.5(EPHA2):c.441C>T (p.Pro147=) rs778278534 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys) rs368758045 0.00001
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) rs754323552 0.00001
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) rs745991398 0.00001
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) rs1380012052 0.00001
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro) rs1045592971 0.00001
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) rs781871271 0.00001
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) rs782584748 0.00001
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu) rs1453803597 0.00001
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro) rs150041151 0.00001
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) rs782429592 0.00001
NM_005267.5(GJA8):c.1296C>T (p.Thr432=) rs782581406 0.00001
NM_005267.5(GJA8):c.317G>A (p.Arg106His) rs917690151 0.00001
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) rs1368547478 0.00001
NM_005267.5(GJA8):c.665T>C (p.Met222Thr) rs782579752 0.00001
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) rs775799498 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) rs935411471 0.00001
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) rs775039116 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) rs760990181 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) rs1432704019 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) rs141816346 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) rs772915458 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) rs142687752 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) rs774525063 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) rs886055527 0.00001
NM_012064.4(MIP):c.*661C>T rs1470004718 0.00001
NM_012064.4(MIP):c.119A>G (p.His40Arg) rs1436119727 0.00001
NM_012064.4(MIP):c.361-10C>T rs886049693 0.00001
NM_012064.4(MIP):c.694G>C (p.Glu232Gln) rs773085032 0.00001
NM_014290.3(TDRD7):c.1308G>A (p.Gln436=) rs777608846 0.00001
NM_014290.3(TDRD7):c.1629+11T>C rs757235995 0.00001
NM_014290.3(TDRD7):c.223A>G (p.Met75Val) rs769552442 0.00001
NM_014290.3(TDRD7):c.2941A>G (p.Ile981Val) rs763792246 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) rs758400042 0.00001
NM_014290.3(TDRD7):c.582C>A (p.Ser194=) rs772250609 0.00001
NM_014290.3(TDRD7):c.637+13A>G rs370507991 0.00001
NM_014290.3(TDRD7):c.718C>T (p.Arg240Cys) rs199787418 0.00001
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys) rs1035614113 0.00001
NM_018238.4(AGK):c.*1067T>G rs1797627785 0.00001
NM_018238.4(AGK):c.*125C>T rs1211083355 0.00001
NM_018238.4(AGK):c.*265G>A rs886062022 0.00001
NM_018238.4(AGK):c.*662A>G rs760797830 0.00001
NM_018238.4(AGK):c.*97G>T rs1474393370 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) rs886062019 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NM_021954.4(GJA3):c.*2340A>G rs1008861631 0.00001
NM_021954.4(GJA3):c.*3210A>G rs779184721 0.00001
NM_021954.4(GJA3):c.*647G>A rs549434985 0.00001
NM_021954.4(GJA3):c.*691G>A rs560674293 0.00001
NM_021954.4(GJA3):c.-98G>A rs935261635 0.00001
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) rs886050020 0.00001
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) rs1958811300 0.00001
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) rs1477019809 0.00001
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) rs753251437 0.00001
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) rs886050023 0.00001
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) rs140332366 0.00001
NM_021954.4(GJA3):c.655A>G (p.Met219Val) rs746511873 0.00001
NM_024513.4(FYCO1):c.*1211C>A rs541087301 0.00001
NM_024513.4(FYCO1):c.*3006G>A rs970550677 0.00001
NM_024513.4(FYCO1):c.*3283G>A rs886058551 0.00001
NM_024513.4(FYCO1):c.*59C>G rs1703099079 0.00001
NM_024513.4(FYCO1):c.*620G>A rs886058562 0.00001
NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) rs201904937 0.00001
NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) rs886058570 0.00001
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr) rs752338309 0.00001
NM_024513.4(FYCO1):c.2399G>A (p.Arg800Gln) rs773582689 0.00001
NM_024513.4(FYCO1):c.241G>A (p.Val81Met) rs1167055520 0.00001
NM_024513.4(FYCO1):c.2507C>A (p.Ala836Asp) rs766825040 0.00001
NM_024513.4(FYCO1):c.2552G>A (p.Arg851His) rs145893350 0.00001
NM_024513.4(FYCO1):c.297A>T (p.Thr99=) rs779232144 0.00001
NM_024513.4(FYCO1):c.3413A>G (p.Glu1138Gly) rs886058566 0.00001
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp) rs1346321563 0.00001
NM_024513.4(FYCO1):c.3587G>C (p.Arg1196Thr) rs1705557579 0.00001
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His) rs775657304 0.00001
NM_024513.4(FYCO1):c.3809C>T (p.Thr1270Ile) rs775300505 0.00001
NM_024513.4(FYCO1):c.3959C>A (p.Thr1320Asn) rs201278075 0.00001
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys) rs776739152 0.00001
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695 0.00001
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660 0.00001
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) rs786205577 0.00001
NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter) rs754060575 0.00001
NM_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NC_000001.10:g.(?_146714354)_(147381384_?)dup
NC_000001.10:g.(?_16460943)_(16482447_?)dup
NC_000001.11:g.145516559_149951620del
NC_000001.11:g.146020242_147909267del
NC_000006.11:g.(?_10398650)_(10882026_?)dup
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NC_000012.11:g.(?_56711393)_(58190366_?)dup
NC_000013.10:g.(?_20716100)_(20717447_?)dup
NC_000013.11:g.(?_20141961)_(20824841_?)del
NC_000017.10:g.(?_27579473)_(27581294_?)del
NC_000020.10:g.(?_17462209)_(17511974_?)dup
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NC_000022.10:g.(?_25601167)_(25601349_?)dup
NC_000022.10:g.(?_25623800)_(25627739_?)dup
NC_000022.10:g.(?_26142492)_(27026451_?)del
NC_000022.10:g.(?_26995454)_(26995657_?)del
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) rs1558697792
NM_000394.4(CRYAA):c.*156T>G rs553059975
NM_000394.4(CRYAA):c.*193G>A rs886057106
NM_000394.4(CRYAA):c.*253C>T rs886057107
NM_000394.4(CRYAA):c.*380G>A rs370015697
NM_000394.4(CRYAA):c.-30C>G rs1985729237
NM_000394.4(CRYAA):c.190-24_190-10del
NM_000394.4(CRYAA):c.199G>C (p.Asp67His) rs747872625
NM_000394.4(CRYAA):c.269A>C (p.Gln90Pro) rs886057103
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup) rs2146498671
NM_000394.4(CRYAA):c.349C>T (p.Arg117Cys) rs760958782
NM_000394.4(CRYAA):c.35G>A (p.Arg12His) rs776884812
NM_000394.4(CRYAA):c.488G>A (p.Arg163Gln) rs886057105
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)
NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg) rs1590703267
NM_000496.3(CRYBB2):c.112T>C (p.Cys38Arg)
NM_000496.3(CRYBB2):c.152C>T (p.Ser51Phe)
NM_000496.3(CRYBB2):c.173+1G>T rs770540384
NM_000496.3(CRYBB2):c.174-12T>A
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His) rs1935318753
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu) rs1935450863
NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)
NM_000496.3(CRYBB2):c.325A>T (p.Ile109Phe)
NM_000496.3(CRYBB2):c.359AGA[1] (p.Lys121del)
NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu) rs1395903116
NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)
NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu) rs2146093751
NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)
NM_000496.3(CRYBB2):c.449+6T>A
NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) rs1569022638
NM_000496.3(CRYBB2):c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis) rs2146095462
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) rs1935386462
NM_001161748.2(LIM2):c.*218C>G rs886054600
NM_001161748.2(LIM2):c.*58G>A rs569373539
NM_001161748.2(LIM2):c.-27C>A rs113926789
NM_001161748.2(LIM2):c.-29C>G rs886054601
NM_001161748.2(LIM2):c.100T>A (p.Ser34Thr) rs76269472
NM_001161748.2(LIM2):c.141G>C (p.Leu47=) rs1987093521
NM_001161748.2(LIM2):c.175+46G>A rs1987086753
NM_001161748.2(LIM2):c.321del (p.Ser108fs) rs1986917705
NM_001161748.2(LIM2):c.337G>A (p.Val113Met) rs73934370
NM_001161748.2(LIM2):c.337G>C (p.Val113Leu) rs73934370
NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)
NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter) rs1212925287
NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)
NM_001161748.2(LIM2):c.457G>A (p.Ala153Thr)
NM_001161748.2(LIM2):c.460+9G>A rs1568480003
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)
NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu) rs767136257
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs) rs1555799947
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)
NM_001267052.2(UNC45B):c.2209G>T (p.Ala737Ser) rs572473522
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) rs1555165546
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) rs782520163
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) rs781902168
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) rs794727936
NM_001291867.2(NHS):c.566-52355A>G
NM_001366145.2(TRPM3):c.4208C>T (p.Pro1403Leu)
NM_001374675.1(HSF4):c.*30del rs756298250
NM_001374675.1(HSF4):c.104A>G (p.His35Arg) rs2031129932
NM_001374675.1(HSF4):c.1075C>A (p.Pro359Thr) rs886052216
NM_001374675.1(HSF4):c.1162dup (p.Ser388fs) rs2145927381
NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
NM_001374675.1(HSF4):c.195T>A (p.His65Gln) rs2031203646
NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp) rs2031203924
NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)
NM_001374675.1(HSF4):c.232+4A>G rs1567668314
NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)
NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly) rs886052215
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
NM_001374675.1(HSF4):c.350T>G (p.Val117Gly) rs1555549881
NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)
NM_001374675.1(HSF4):c.360G>A (p.Lys120=)
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)
NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)
NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg) rs1567668765
NM_001374675.1(HSF4):c.594G>T (p.Ala198=) rs763541172
NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)
NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)
NM_001374675.1(HSF4):c.965C>G (p.Pro322Arg)
NM_001491.3(GCNT2):c.259_262del (p.Ser87fs) rs1085307067
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) rs1554129925
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) rs771422892
NM_001538.3(HSF4):c.*158_*159dupTT rs3215366
NM_001538.4(HSF4):c.-354C>A rs886052214
NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro) rs1929601316
NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer) rs2145979078
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
NM_001886.3(CRYBA4):c.169T>C (p.Phe57Leu)
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) rs1929674480
NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter) rs199635152
NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser) rs1929676368
NM_001886.3(CRYBA4):c.300+1del
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) rs758790937
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) rs1602338380
NM_001887.4(CRYBB1):c.-58C>T rs886057327
NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr) rs1929353737
NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter) rs762814574
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=) rs1569206910
NM_001887.4(CRYBB1):c.275G>A (p.Arg92His) rs750427170
NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu) rs144372140
NM_001887.4(CRYBB1):c.300-9T>G rs1929039318
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
NM_001887.4(CRYBB1):c.37G>A (p.Val13Met) rs747901309
NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly) rs148083686
NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu) rs764907340
NM_001887.4(CRYBB1):c.432+5G>C rs1555940959
NM_001887.4(CRYBB1):c.508G>C (p.Asp170His)
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
NM_001887.4(CRYBB1):c.63C>A (p.Thr21=) rs1371584623
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)
NM_001887.4(CRYBB1):c.712dup (p.His238fs) rs1602319108
NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) rs1114167432
NM_002340.6(LSS):c.1228T>C (p.Cys410Arg) rs2080101374
NM_002340.6(LSS):c.347G>A (p.Arg116His) rs146421852
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) rs1846907790
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
NM_003380.5(VIM):c.468G>C (p.Glu156Asp) rs1846752790
NM_003380.5(VIM):c.46G>A (p.Gly16Ser) rs773471865
NM_003380.5(VIM):c.598G>C (p.Glu200Gln) rs1037734535
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)
NM_003430.4(ZNF91):c.1638C>G (p.Tyr546Ter)
NM_003571.4(BFSP2):c.*225G>A rs2074202598
NM_003571.4(BFSP2):c.*226C>A rs574253958
NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly) rs144693104
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
NM_003571.4(BFSP2):c.1244+8T>C rs2074175378
NM_003571.4(BFSP2):c.185C>A (p.Pro62His)
NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)
NM_003571.4(BFSP2):c.215G>A (p.Arg72His)
NM_003571.4(BFSP2):c.251dup (p.Leu85fs) rs886058008
NM_003571.4(BFSP2):c.27C>G (p.Asp9Glu)
NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del) rs2107871422
NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala) rs886058009
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
NM_003571.4(BFSP2):c.461G>T (p.Arg154Leu)
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.567A>G (p.Lys189=) rs886058010
NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly) rs2073924367
NM_003571.4(BFSP2):c.598_599insGGC (p.Lys200delinsArgGln)
NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer) rs768745697
NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys) rs886058012
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
NM_003571.4(BFSP2):c.918C>G (p.Ser306=) rs1157387539
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.-57C>G rs777375397
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser) rs780319207
NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met) rs1363417170
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu) rs1935047601
NM_004431.5(EPHA2):c.*224G>T rs886045504
NM_004431.5(EPHA2):c.*543C>T rs2024433310
NM_004431.5(EPHA2):c.-81G>T rs748513356
NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) rs1248366791
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)
NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)
NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser) rs886045506
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe) rs993473436
NM_004431.5(EPHA2):c.1405T>C (p.Tyr469His)
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys) rs1380993138
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=) rs2024630377
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
NM_004431.5(EPHA2):c.205G>A (p.Val69Met) rs994302854
NM_004431.5(EPHA2):c.2145G>T (p.Gln715His)
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=) rs757876769
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser) rs922655349
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp) rs55869078
NM_004431.5(EPHA2):c.2476G>T (p.Val826Leu)
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter) rs143590250
NM_004431.5(EPHA2):c.2677_2680dup (p.Arg894fs)
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) rs903033191
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro) rs775490586
NM_004431.5(EPHA2):c.2826-35_2890del
NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)
NM_004431.5(EPHA2):c.2864A>C (p.Gln955Pro)
NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
NM_004431.5(EPHA2):c.508G>A (p.Val170Met)
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val) rs1557520529
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp) rs759269511
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) rs2068927678
NM_005208.5(CRYBA1):c.215+5G>A
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys) rs2068949378
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs) rs2153009713
NM_005208.5(CRYBA1):c.500+1G>T rs775038545
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) rs773038726
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628
NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu) rs200143566
NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)
NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)
NM_005267.5(GJA8):c.-11-4T>G rs1651864498
NM_005267.5(GJA8):c.-43A>G rs1651656949
NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)
NM_005267.5(GJA8):c.1125del (p.Gly376fs)
NM_005267.5(GJA8):c.1125dup (p.Gly376fs)
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) rs782314953
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)
NM_005267.5(GJA8):c.116C>G (p.Thr39Arg)
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
NM_005267.5(GJA8):c.12G>C (p.Trp4Cys)
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.131T>C (p.Val44Ala)
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>T (p.Gly46Val)
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) rs80358201
NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro) rs1651877337
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.151G>C (p.Asp51His) rs864309703
NM_005267.5(GJA8):c.154T>C (p.Phe52Leu)
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_005267.5(GJA8):c.175C>A (p.Pro59Thr)
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.189C>G (p.Asn63Lys)
NM_005267.5(GJA8):c.191T>G (p.Val64Gly)
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) rs781782991
NM_005267.5(GJA8):c.205G>A (p.Ala69Thr)
NM_005267.5(GJA8):c.208T>C (p.Phe70Leu)
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>G (p.Arg76Gly)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del)
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
NM_005267.5(GJA8):c.262C>A (p.Pro88Thr)
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
NM_005267.5(GJA8):c.280G>A (p.Gly94Arg)
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.285C>T (p.His95=) rs886045253
NM_005267.5(GJA8):c.290T>G (p.Val97Gly)
NM_005267.5(GJA8):c.293A>C (p.His98Pro)
NM_005267.5(GJA8):c.293A>G (p.His98Arg)
NM_005267.5(GJA8):c.300C>T (p.Val100=) rs886045254
NM_005267.5(GJA8):c.302G>T (p.Arg101Leu)
NM_005267.5(GJA8):c.367G>A (p.Gly123Ser)
NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del) rs782150699
NM_005267.5(GJA8):c.433G>T (p.Gly145Trp)
NM_005267.5(GJA8):c.460C>G (p.His154Asp)
NM_005267.5(GJA8):c.472A>C (p.Lys158Gln)
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg) rs2149015799
NM_005267.5(GJA8):c.481T>G (p.Phe161Val) rs1558009685
NM_005267.5(GJA8):c.484G>A (p.Glu162Lys) rs1114167310
NM_005267.5(GJA8):c.499G>T (p.Val167Leu) rs1426006227
NM_005267.5(GJA8):c.53C>T (p.Ser18Phe)
NM_005267.5(GJA8):c.565C>G (p.Pro189Ala)
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.586G>A (p.Val196Met)
NM_005267.5(GJA8):c.590C>T (p.Ser197Phe)
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser)
NM_005267.5(GJA8):c.634G>T (p.Val212Leu)
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) rs2149016020
NM_005267.5(GJA8):c.670T>C (p.Leu224=) rs782211254
NM_005267.5(GJA8):c.678C>A (p.His226Gln) rs201476382
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly) rs1558009094
NM_005267.5(GJA8):c.73T>C (p.Trp25Arg) rs1114167309
NM_005267.5(GJA8):c.776C>A (p.Ser259Tyr)
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) rs45619342
NM_005267.5(GJA8):c.829C>T (p.His277Tyr) rs1651940183
NM_005267.5(GJA8):c.839C>G (p.Pro280Arg)
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu) rs1571177590
NM_005267.5(GJA8):c.855del (p.Met286fs)
NM_005267.5(GJA8):c.875T>A (p.Leu292Gln)
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) rs886045255
NM_005267.5(GJA8):c.94T>A (p.Phe32Ile)
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)
NM_005360.5(MAF):c.260A>C (p.His87Pro)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) rs887468453
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.797T>G (p.Leu266Arg) rs2143802492
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
NM_005360.5(MAF):c.860T>G (p.Ile287Ser)
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
NM_005360.5(MAF):c.892A>C (p.Asn298His)
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
NM_005360.5(MAF):c.899G>A (p.Gly300Asp)
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
NM_005360.5(MAF):c.905C>A (p.Ala302Asp) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) rs1913782042
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) rs749886570
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) rs749886570
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) rs377677092
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2238C>A (p.Asn746Lys)
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser)
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) rs3821945
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) rs759360634
NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu)
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly) rs766745943
NM_006891.3(CRYGD):c.-80A>C rs886055528
NM_006891.4(CRYGD):c.173T>G (p.Leu58Arg)
NM_006891.4(CRYGD):c.233C>T (p.Ser78Phe) rs2105853718
NM_006891.4(CRYGD):c.252C>T (p.His84=) rs775032143
NM_006891.4(CRYGD):c.290A>T (p.Asp97Val)
NM_006891.4(CRYGD):c.333T>C (p.Cys111=) rs933732267
NM_012064.4(MIP):c.*1103C>T rs886049689
NM_012064.4(MIP):c.*1237_*1238dup rs111463603
NM_012064.4(MIP):c.*1262C>G rs1868534260
NM_012064.4(MIP):c.*148dup rs35639464
NM_012064.4(MIP):c.*1777dup rs886049688
NM_012064.4(MIP):c.*342C>T rs886049690
NM_012064.4(MIP):c.*957G>A rs924408819
NM_012064.4(MIP):c.-26C>A rs1172594016
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)
NM_012064.4(MIP):c.323C>T (p.Thr108Ile) rs760722691
NM_012064.4(MIP):c.433A>C (p.Ile145Leu) rs1868692984
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
NM_012064.4(MIP):c.493G>A (p.Gly165Ser) rs886049692
NM_012064.4(MIP):c.506C>A (p.Ala169Asp) rs1868688639
NM_012064.4(MIP):c.560G>T (p.Arg187Leu) rs759746926
NM_014290.3(TDRD7):c.-120C>G rs942258191
NM_014290.3(TDRD7):c.-122T>C rs886063212
NM_014290.3(TDRD7):c.-147G>T rs886063211
NM_014290.3(TDRD7):c.-6-3T>C rs747079212
NM_014290.3(TDRD7):c.1105T>G (p.Tyr369Asp)
NM_014290.3(TDRD7):c.1121C>T (p.Pro374Leu)
NM_014290.3(TDRD7):c.1353C>T (p.Asp451=) rs146047308
NM_014290.3(TDRD7):c.1445A>G (p.Tyr482Cys) rs886063213
NM_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)
NM_014290.3(TDRD7):c.1760A>G (p.Asp587Gly) rs1828932238
NM_014290.3(TDRD7):c.1821A>T (p.Glu607Asp) rs1169706990
NM_014290.3(TDRD7):c.207+12A>C rs763703339
NM_014290.3(TDRD7):c.2147G>A (p.Gly716Glu)
NM_014290.3(TDRD7):c.2344A>C (p.Met782Leu) rs752597965
NM_014290.3(TDRD7):c.2344A>G (p.Met782Val)
NM_014290.3(TDRD7):c.2381C>A (p.Ser794Tyr) rs1829105037
NM_014290.3(TDRD7):c.2491A>G (p.Ser831Gly) rs886063214
NM_014290.3(TDRD7):c.2494A>G (p.Ile832Val)
NM_014290.3(TDRD7):c.2603C>T (p.Pro868Leu) rs764446051
NM_014290.3(TDRD7):c.2641C>G (p.Leu881Val)
NM_014290.3(TDRD7):c.2683G>A (p.Ala895Thr)
NM_014290.3(TDRD7):c.2684C>A (p.Ala895Asp)
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val) rs202206922
NM_014290.3(TDRD7):c.3010A>G (p.Lys1004Glu)
NM_014290.3(TDRD7):c.3129T>A (p.His1043Gln) rs371279564
NM_014290.3(TDRD7):c.416A>G (p.Asn139Ser) rs1317477843
NM_014290.3(TDRD7):c.692C>G (p.Thr231Ser) rs756033246
NM_014290.3(TDRD7):c.725A>G (p.Lys242Arg) rs1036293350
NM_014290.3(TDRD7):c.838T>C (p.Trp280Arg) rs201246147
NM_015073.3(SIPA1L3):c.2705T>C (p.Leu902Ser)
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp) rs1971857507
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp) rs1261792226
NM_015073.3(SIPA1L3):c.727C>T (p.Arg243Trp)
NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His) rs767672961
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)
NM_017541.4(CRYGS):c.21+6T>C
NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp) rs761628147
NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg) rs1714002505
NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr) rs1714002434
NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr) rs1553846926
NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr) rs1275239379
NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys) rs143424000
NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)
NM_017541.4(CRYGS):c.436C>T (p.Arg146Cys)
NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
NM_018216.4(PANK4):c.847G>A (p.Asp283Asn)
NM_018238.4(AGK):c.*1006T>C rs1387554008
NM_018238.4(AGK):c.*231C>T rs1797606303
NM_018238.4(AGK):c.*364C>G rs368718308
NM_018238.4(AGK):c.*365G>A rs886062024
NM_018238.4(AGK):c.*754G>A rs1797619409
NM_018238.4(AGK):c.*967T>C rs886062026
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) rs748320721
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) rs1796233762
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.355A>G (p.Ile119Val) rs180770509
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) rs888790526
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) rs200104400
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_018238.4(AGK):c.976-9C>T rs746375297
NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)
NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)
NM_021954.4(GJA3):c.*1239C>G rs575890873
NM_021954.4(GJA3):c.*1495G>C rs1324857690
NM_021954.4(GJA3):c.*1760G>A rs183550581
NM_021954.4(GJA3):c.*1941C>G rs960605395
NM_021954.4(GJA3):c.*1965C>T rs1958798103
NM_021954.4(GJA3):c.*198T>C rs886050018
NM_021954.4(GJA3):c.*201G>C rs1025195589
NM_021954.4(GJA3):c.*2086G>T rs1958797398
NM_021954.4(GJA3):c.*2363A>G rs1958795891
NM_021954.4(GJA3):c.*2829A>T rs886050009
NM_021954.4(GJA3):c.*2923A>G rs886050008
NM_021954.4(GJA3):c.*3099C>A rs886050007
NM_021954.4(GJA3):c.*3182T>G rs886050005
NM_021954.4(GJA3):c.*3389G>A rs886050004
NM_021954.4(GJA3):c.*740G>C rs141947045
NM_021954.4(GJA3):c.*744A>G rs755473152
NM_021954.4(GJA3):c.*846G>A rs886050015
NM_021954.4(GJA3):c.*846G>C rs886050015
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
NM_021954.4(GJA3):c.1065C>G (p.Val355=) rs989998887
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) rs1958811917
NM_021954.4(GJA3):c.1101_1108del (p.Glu367fs)
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) rs1958811054
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) rs1593332899
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) rs1047204525
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) rs1958809965
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) rs1566515377
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
NM_021954.4(GJA3):c.199G>C (p.Asp67His)
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) rs1555339543
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) rs1958822283
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) rs781267768
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) rs1440873571
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) rs755792418
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) rs1958823641
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) rs2141138491
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) rs1114167308
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
NM_021954.4(GJA3):c.720G>A (p.Pro240=) rs746223535
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) rs771424292
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) rs1958816239
NM_021954.4(GJA3):c.78G>A (p.Leu26=) rs1172500719
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) rs886050022
NM_021954.4(GJA3):c.868del (p.Ala290fs)
NM_021954.4(GJA3):c.885G>C (p.Ala295=) rs886050021
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) rs1460869929
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) rs377190812
NM_024513.4(FYCO1):c.*1074C>T rs1703060519
NM_024513.4(FYCO1):c.*1149C>G rs886058561
NM_024513.4(FYCO1):c.*1185A>T rs538032998
NM_024513.4(FYCO1):c.*1235C>A rs886058560
NM_024513.4(FYCO1):c.*1285G>C rs780841652
NM_024513.4(FYCO1):c.*1349T>C rs1703050607
NM_024513.4(FYCO1):c.*2275G>A rs773693634
NM_024513.4(FYCO1):c.*2307C>G rs886058555
NM_024513.4(FYCO1):c.*3691A>C rs1322082910
NM_024513.4(FYCO1):c.*431A>G rs965506856
NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val) rs2125852762
NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser) rs533418314
NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)
NM_024513.4(FYCO1):c.1464A>T (p.Ala488=) rs886058569
NM_024513.4(FYCO1):c.150G>A (p.Glu50=) rs886058572
NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)
NM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs) rs766571780
NM_024513.4(FYCO1):c.1651G>T (p.Gly551Cys) rs775726960
NM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys) rs886058568
NM_024513.4(FYCO1):c.1826G>T (p.Ser609Ile) rs768501163
NM_024513.4(FYCO1):c.2121C>T (p.Gly707=) rs761520600
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His) rs762153899
NM_024513.4(FYCO1):c.2200G>C (p.Glu734Gln) rs750356269
NM_024513.4(FYCO1):c.2455G>T (p.Val819Phe) rs749304983
NM_024513.4(FYCO1):c.2780C>T (p.Ala927Val) rs1706029083
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) rs755356775
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
NM_024513.4(FYCO1):c.2932C>G (p.Leu978Val) rs886058567
NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) rs1374835987
NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) rs886058571
NM_024513.4(FYCO1):c.3269+10A>T rs1705867971
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
NM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val) rs1705732142
NM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr) rs1705562623
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu) rs779617235
NM_024513.4(FYCO1):c.368A>C (p.Gln123Pro) rs998386465
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) rs1705246252
NM_024513.4(FYCO1):c.3920C>A (p.Ser1307Tyr) rs1489293292
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
NM_024513.4(FYCO1):c.3993C>T (p.Pro1331=) rs752606656
NM_024513.4(FYCO1):c.3999G>T (p.Gly1333=) rs751515767
NM_024513.4(FYCO1):c.4042A>G (p.Ile1348Val) rs886058565
NM_024513.4(FYCO1):c.4078T>C (p.Phe1360Leu) rs886058564
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)
NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe) rs2125787935
NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)
NM_024513.4(FYCO1):c.4362-2A>G
NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) rs1460800228
NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)
NM_024513.4(FYCO1):c.708A>G (p.Arg236=) rs1706249535
NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr) rs1706240236
NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly) rs201358723
NM_024513.4(FYCO1):c.844C>T (p.Arg282Cys) rs201358723
NM_024513.4(FYCO1):c.933T>C (p.Thr311=) rs202166104
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) rs1554139314
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1209C>T rs563409386
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030
NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln) rs118203966
NM_181336.4(LEMD2):c.1430C>T (p.Thr477Met)

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