ClinVar Miner

List of variants studied for early-onset nuclear cataract

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 758
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.*455A>G rs6441934 0.86048
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158 0.84476
NM_024513.4(FYCO1):c.*3742T>A rs7130 0.83012
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680 0.78251
NM_024513.4(FYCO1):c.*505A>G rs7652331 0.73831
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_024513.4(FYCO1):c.3438-29C>T rs1532071 0.45750
NM_024513.4(FYCO1):c.*2406G>A rs3796373 0.38430
NM_024513.4(FYCO1):c.*3498A>G rs7129 0.35978
NM_024513.4(FYCO1):c.*315G>A rs2291470 0.35781
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375 0.35386
NM_024513.4(FYCO1):c.289-14T>A rs751552 0.34838
NM_024513.4(FYCO1):c.*662G>C rs3733103 0.34001
NM_024513.4(FYCO1):c.*2695A>T rs61519998 0.28502
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376 0.15512
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726 0.09577
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) rs33910087 0.08920
NM_024513.4(FYCO1):c.819A>G (p.Gln273=) rs13071283 0.08538
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) rs13059238 0.08514
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) rs13079869 0.08069
NM_024513.4(FYCO1):c.*2837C>G rs1994491 0.08051
NM_024513.4(FYCO1):c.3587+15C>T rs13069079 0.08025
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) rs13079478 0.07989
NM_024513.4(FYCO1):c.*654T>C rs75928798 0.07934
NM_024513.4(FYCO1):c.*2557G>A rs1994493 0.07933
NM_024513.4(FYCO1):c.*2611A>G rs1994492 0.07931
NM_024513.4(FYCO1):c.*1303C>G rs60431156 0.07452
NM_024513.4(FYCO1):c.*308A>G rs2291471 0.07001
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630 0.05424
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618 0.02650
NM_024513.4(FYCO1):c.*3439A>T rs113723273 0.02359
NM_024513.4(FYCO1):c.*2060C>A rs75347427 0.02289
NM_024513.4(FYCO1):c.*191G>A rs111480321 0.01912
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356 0.01862
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492 0.01745
NM_024513.4(FYCO1):c.*466C>T rs73830632 0.01121
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905 0.00893
NM_024513.4(FYCO1):c.*1056C>T rs114644287 0.00847
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) rs34266136 0.00838
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_024513.4(FYCO1):c.*1419C>T rs116230454 0.00793
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859 0.00520
NM_024513.4(FYCO1):c.*3057G>A rs537667165 0.00497
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_024513.4(FYCO1):c.*21C>T rs145828463 0.00422
NM_024513.4(FYCO1):c.*724C>A rs148133261 0.00421
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696 0.00410
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) rs35678722 0.00395
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln) rs114145679 0.00391
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) rs116404907 0.00390
NM_024513.4(FYCO1):c.630+15G>T rs76456912 0.00389
NM_024513.4(FYCO1):c.*3725A>G rs547425913 0.00387
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg) rs142618914 0.00387
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530 0.00381
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692 0.00363
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665 0.00299
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737 0.00295
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_024513.4(FYCO1):c.869G>A (p.Arg290His) rs146311777 0.00269
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205 0.00264
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668 0.00232
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) rs113517878 0.00200
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_024513.4(FYCO1):c.*2851C>T rs182350140 0.00165
NM_024513.4(FYCO1):c.*1173C>T rs187327525 0.00161
NM_024513.4(FYCO1):c.*1445C>T rs143753654 0.00148
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) rs184524046 0.00148
NM_024513.4(FYCO1):c.*3063G>A rs570276173 0.00140
NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg) rs139535132 0.00133
NM_024513.4(FYCO1):c.*3560C>A rs185588322 0.00130
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101 0.00123
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_024513.4(FYCO1):c.*678A>G rs141954427 0.00080
NM_024513.4(FYCO1):c.*342C>T rs536237093 0.00079
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_024513.4(FYCO1):c.3944+18C>G rs144463828 0.00076
NM_024513.4(FYCO1):c.*709C>T rs559852330 0.00072
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
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_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_024513.4(FYCO1):c.*2771A>G rs759567503 0.00049
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659 0.00041
NM_024513.4(FYCO1):c.*3366T>G rs886058550 0.00040
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_024513.4(FYCO1):c.1425G>A (p.Glu475=) rs144119495 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987 0.00034
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr) rs139604029 0.00032
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 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_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 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_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619 0.00029
NM_024513.4(FYCO1):c.2622G>A (p.Gln874=) rs761900261 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_024513.4(FYCO1):c.*2757C>A rs186073318 0.00025
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val) rs148445016 0.00023
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) rs138127684 0.00022
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_024513.4(FYCO1):c.*810G>A rs778420399 0.00021
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 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_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) rs376974936 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_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 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_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) rs3821885 0.00015
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 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_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_024513.4(FYCO1):c.3151-12G>A rs372806650 0.00013
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_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) rs377677067 0.00012
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly) rs756252214 0.00011
NM_006005.3(WFS1):c.437G>A (p.Arg146His) rs34446752 0.00011
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
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_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321 0.00010
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) rs747477628 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 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_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_024513.4(FYCO1):c.*3278G>A rs546718807 0.00008
NM_024513.4(FYCO1):c.*988C>A rs912973615 0.00008
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 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_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) rs146563951 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 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.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 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.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 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_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 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_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 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.1673G>A (p.Arg558His) rs774265764 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.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_024513.4(FYCO1):c.*1270T>C rs1296033449 0.00005
NM_024513.4(FYCO1):c.*2889C>A rs886058553 0.00005
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=) rs759845569 0.00005
NM_006005.3(WFS1):c.1072G>C (p.Val358Leu) rs969150051 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.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro) rs756067305 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 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.2107C>T (p.Arg703Cys) rs201888856 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) rs575778537 0.00004
NM_006005.3(WFS1):c.2213C>A (p.Ala738Asp) rs756962408 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) rs779199009 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006005.3(WFS1):c.2619C>T (p.Gly873=) rs370977482 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_006005.3(WFS1):c.631G>A (p.Asp211Asn) rs138682654 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.1502A>G (p.Lys501Arg) rs146010173 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.3330C>A (p.Cys1110Ter) rs764164884 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_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) rs768029820 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 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.2377C>T (p.Arg793Cys) rs71526462 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 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.882C>T (p.His294=) rs571928866 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_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.2844G>A (p.Glu948=) rs182162227 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_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.1900A>C (p.Lys634Gln) rs140213376 0.00002
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 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.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2267G>A (p.Arg756His) rs982418213 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.2654C>T (p.Pro885Leu) rs372855769 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.807A>T (p.Glu269Asp) rs773140080 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 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.1677G>A (p.Pro559=) rs928579946 0.00002
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) rs387906964 0.00002
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) rs367690473 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) rs781575919 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 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.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1501G>A (p.Val501Ile) rs1343901456 0.00001
NM_006005.3(WFS1):c.1506C>T (p.Ser502=) rs773684789 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 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.2191A>G (p.Met731Val) rs144010362 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.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 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.2513C>T (p.Pro838Leu) rs374704428 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.440G>A (p.Arg147Gln) rs887901169 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 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.709G>A (p.Glu237Lys) rs763480468 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg) rs753193877 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.920C>T (p.Ala307Val) rs371645500 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 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.108G>A (p.Thr36=) rs558777911 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.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) rs746026639 0.00001
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=) rs552928719 0.00001
NM_024513.4(FYCO1):c.2334G>A (p.Leu778=) rs369350326 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.2865G>A (p.Gln955=) rs1575368474 0.00001
NM_024513.4(FYCO1):c.297A>T (p.Thr99=) rs779232144 0.00001
NM_024513.4(FYCO1):c.3150+1G>T rs766522434 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.4254C>A (p.Val1418=) rs1553620269 0.00001
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695 0.00001
NM_024513.4(FYCO1):c.816G>A (p.Glu272=) rs375970181 0.00001
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660 0.00001
NM_002473.6(MYH9):c.73G>A (p.Asp25Asn)
NM_006005.3(WFS1):c.1002C>T (p.Ser334=)
NM_006005.3(WFS1):c.1014C>A (p.Ile338=)
NM_006005.3(WFS1):c.1021_1032del (p.Phe341_Phe344del)
NM_006005.3(WFS1):c.1027_1028delinsGC (p.Phe343Ala)
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1042G>A (p.Val348Ile)
NM_006005.3(WFS1):c.1045A>G (p.Ile349Val)
NM_006005.3(WFS1):c.1049T>G (p.Phe350Cys)
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) rs781575919
NM_006005.3(WFS1):c.1088A>G (p.Lys363Arg)
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1153G>C (p.Glu385Gln)
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1171G>A (p.Glu391Lys)
NM_006005.3(WFS1):c.1174C>G (p.Gln392Glu)
NM_006005.3(WFS1):c.1190T>G (p.Phe397Cys)
NM_006005.3(WFS1):c.11A>G (p.Asn4Ser)
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1228del (p.Leu410fs)
NM_006005.3(WFS1):c.122C>A (p.Pro41His)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1232C>T (p.Ser411Phe) rs961779757
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
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.1243G>T (p.Val415Phe) rs749886570
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1249T>A (p.Phe417Ile)
NM_006005.3(WFS1):c.1264G>C (p.Ala422Pro)
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1325C>T (p.Thr442Ile)
NM_006005.3(WFS1):c.1348C>T (p.His450Tyr)
NM_006005.3(WFS1):c.1355_1370del (p.Glu452fs)
NM_006005.3(WFS1):c.1357C>G (p.Pro453Ala)
NM_006005.3(WFS1):c.1357C>T (p.Pro453Ser)
NM_006005.3(WFS1):c.1359C>T (p.Pro453=)
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1372G>A (p.Ala458Thr)
NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala)
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) rs398123066
NM_006005.3(WFS1):c.1399C>G (p.Leu467Val)
NM_006005.3(WFS1):c.1405T>A (p.Ser469Thr)
NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1451T>C (p.Leu484Pro)
NM_006005.3(WFS1):c.1460C>G (p.Thr487Ser) rs142269405
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly)
NM_006005.3(WFS1):c.1500C>G (p.Asn500Lys)
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1526T>G (p.Val509Gly)
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
NM_006005.3(WFS1):c.1540C>G (p.Leu514Val)
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1549del (p.Arg517fs) rs2109126109
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.154C>G (p.Pro52Ala)
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1555G>A (p.Ala519Thr)
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1580C>G (p.Thr527Ser)
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
NM_006005.3(WFS1):c.1642C>G (p.Leu548Val)
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.1646T>C (p.Leu549Pro)
NM_006005.3(WFS1):c.1692C>G (p.Phe564Leu) rs140643985
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) 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.1744G>T (p.Val582Leu)
NM_006005.3(WFS1):c.1756G>A (p.Ala586Thr)
NM_006005.3(WFS1):c.1759C>G (p.Arg587Gly)
NM_006005.3(WFS1):c.1760G>T (p.Arg587Leu)
NM_006005.3(WFS1):c.1764G>T (p.Trp588Cys) rs763559442
NM_006005.3(WFS1):c.1777G>A (p.Glu593Lys)
NM_006005.3(WFS1):c.1778A>C (p.Glu593Ala) rs375440473
NM_006005.3(WFS1):c.1778A>G (p.Glu593Gly)
NM_006005.3(WFS1):c.1789A>G (p.Ile597Val)
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.1810T>C (p.Cys604Arg)
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.181G>A (p.Ala61Thr)
NM_006005.3(WFS1):c.1828T>G (p.Leu610Val)
NM_006005.3(WFS1):c.1831_1832delinsGA (p.Arg611Asp)
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
NM_006005.3(WFS1):c.1850G>C (p.Ser617Thr)
NM_006005.3(WFS1):c.1852T>C (p.Phe618Leu)
NM_006005.3(WFS1):c.1858G>C (p.Val620Leu)
NM_006005.3(WFS1):c.1865G>T (p.Gly622Val)
NM_006005.3(WFS1):c.1885C>G (p.Arg629Gly)
NM_006005.3(WFS1):c.1886G>T (p.Arg629Leu)
NM_006005.3(WFS1):c.1894A>G (p.Met632Val)
NM_006005.3(WFS1):c.1901A>G (p.Lys634Arg)
NM_006005.3(WFS1):c.1907T>C (p.Ile636Thr)
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1928T>C (p.Ile643Thr)
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.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.1954T>C (p.Tyr652His)
NM_006005.3(WFS1):c.1961C>T (p.Ser654Leu)
NM_006005.3(WFS1):c.1987A>G (p.Thr663Ala)
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
NM_006005.3(WFS1):c.2009G>A (p.Gly670Asp)
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile)
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs)
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp) rs751270928
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser)
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu) rs2109127017
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2166G>A (p.Met722Ile) rs758534824
NM_006005.3(WFS1):c.2175C>A (p.Phe725Leu)
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2222C>T (p.Ala741Val) rs770396410
NM_006005.3(WFS1):c.2234G>C (p.Gly745Ala)
NM_006005.3(WFS1):c.2238C>A (p.Asn746Lys)
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln) rs147465252
NM_006005.3(WFS1):c.2254G>A (p.Glu752Lys)
NM_006005.3(WFS1):c.2259G>C (p.Glu753Asp)
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2287C>T (p.His763Tyr)
NM_006005.3(WFS1):c.2311G>A (p.Asp771Asn)
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.231C>G (p.Thr77=)
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
NM_006005.3(WFS1):c.2335G>T (p.Val779Leu)
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2382GGA[1] (p.Glu795del)
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.2395A>C (p.Thr799Pro)
NM_006005.3(WFS1):c.2395A>T (p.Thr799Ser)
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) rs557048986
NM_006005.3(WFS1):c.2432A>T (p.Lys811Met)
NM_006005.3(WFS1):c.2446A>C (p.Ser816Arg)
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met) rs779957380
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2528A>G (p.Lys843Arg)
NM_006005.3(WFS1):c.2534T>C (p.Ile845Thr)
NM_006005.3(WFS1):c.2536A>G (p.Ser846Gly)
NM_006005.3(WFS1):c.2539T>C (p.Cys847Arg)
NM_006005.3(WFS1):c.2545A>C (p.Asn849His)
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser)
NM_006005.3(WFS1):c.2548T>G (p.Cys850Gly) rs966123985
NM_006005.3(WFS1):c.2564C>T (p.Ser855Leu)
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2569A>C (p.Thr857Pro)
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.25G>C (p.Gly9Arg)
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.2608A>C (p.Thr870Pro)
NM_006005.3(WFS1):c.2611G>C (p.Val871Leu) rs71532874
NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu)
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) rs776324301
NM_006005.3(WFS1):c.2640CTT[1] (p.Phe884del) rs535021228
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.316-13G>A
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.335A>G (p.Gln112Arg)
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.413G>A (p.Arg138His)
NM_006005.3(WFS1):c.439C>T (p.Arg147Trp)
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.547A>G (p.Met183Val)
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.618G>C (p.Gln206His)
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr)
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
NM_006005.3(WFS1):c.662A>C (p.Lys221Thr)
NM_006005.3(WFS1):c.682_684delinsTGG (p.Arg228Trp)
NM_006005.3(WFS1):c.683_684delinsAG (p.Arg228Gln) rs2109117184
NM_006005.3(WFS1):c.708C>T (p.Ser236=)
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.712+6T>A
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.724A>C (p.Ile242Leu)
NM_006005.3(WFS1):c.758A>G (p.Lys253Arg)
NM_006005.3(WFS1):c.791T>C (p.Phe264Ser)
NM_006005.3(WFS1):c.803A>G (p.Asp268Gly)
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.824C>T (p.Ala275Val)
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys)
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_006005.3(WFS1):c.880C>G (p.His294Asp)
NM_006005.3(WFS1):c.882C>A (p.His294Gln)
NM_006005.3(WFS1):c.887T>C (p.Ile296Thr)
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.903G>C (p.Glu301Asp)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.929C>T (p.Ala310Val)
NM_006005.3(WFS1):c.934A>G (p.Met312Val) rs544450962
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) rs914996283
NM_006005.3(WFS1):c.970A>G (p.Ile324Val)
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006005.3(WFS1):c.997G>C (p.Val333Leu)
NM_006005.3(WFS1):c.9dup (p.Asn4fs) rs2109107823
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.*1415G>A rs1488374
NM_024513.4(FYCO1):c.*1686A>G rs527649068
NM_024513.4(FYCO1):c.*1748C>T rs149016664
NM_024513.4(FYCO1):c.*2238C>A rs144987706
NM_024513.4(FYCO1):c.*2275G>A rs773693634
NM_024513.4(FYCO1):c.*2307C>G rs886058555
NM_024513.4(FYCO1):c.*3178G>T rs1047444
NM_024513.4(FYCO1):c.*3691A>C rs1322082910
NM_024513.4(FYCO1):c.*431A>G rs965506856
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
NM_024513.4(FYCO1):c.104T>C (p.Ile35Thr)
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.1410G>A (p.Trp470Ter)
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.1546C>T (p.Gln516Ter) rs387906966
NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter) rs200557771
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.1675C>T (p.Pro559Ser)
NM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys) rs886058568
NM_024513.4(FYCO1):c.1815G>T (p.Val605=)
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.2308del (p.Gln770fs)
NM_024513.4(FYCO1):c.2328G>A (p.Ala776=)
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)
NM_024513.4(FYCO1):c.2455G>T (p.Val819Phe) rs749304983
NM_024513.4(FYCO1):c.2483_2487dup (p.Leu830fs)
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
NM_024513.4(FYCO1):c.2762G>A (p.Arg921Gln)
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.2937G>A (p.Gln979=)
NM_024513.4(FYCO1):c.2947G>A (p.Ala983Thr)
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu) rs71622515
NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) rs1374835987
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs) rs2125846016
NM_024513.4(FYCO1):c.3164A>G (p.Asp1055Gly)
NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) rs886058571
NM_024513.4(FYCO1):c.3269+10A>T rs1705867971
NM_024513.4(FYCO1):c.3269+1G>C
NM_024513.4(FYCO1):c.3270-6C>T rs113516581
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter) rs73830668
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)
NM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val) rs1705732142
NM_024513.4(FYCO1):c.3438-9_3438-8del rs536305273
NM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter)
NM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr) rs1705562623
NM_024513.4(FYCO1):c.3631G>A (p.Val1211Ile)
NM_024513.4(FYCO1):c.3645C>T (p.His1215=)
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.3799+12G>A
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs) rs777269054
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.3968C>T (p.Thr1323Met)
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.4127T>C (p.Leu1376Pro) rs387906965
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
NM_024513.4(FYCO1):c.417C>T (p.Ser139=)
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.4339A>T (p.Ile1447Phe)
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.524G>A (p.Trp175Ter) rs2125859216
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs) rs2125859204
NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter) rs200679450
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.793dup (p.Ala265fs) rs1706240480
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_024513.4(FYCO1):c.990G>A (p.Glu330=)

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