ClinVar Miner

List of variants in gene FGD4 studied for Charcot-Marie-Tooth disease type 4

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Gene type:
ClinVar version:
Total variants: 443
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=) rs16920084 0.00752
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile) rs528790143 0.00050
NM_001370298.3(FGD4):c.1440T>C (p.His480=) rs150223260 0.00037
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro) rs142609007 0.00033
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_001370298.3(FGD4):c.*5484T>C rs577630567 0.00025
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_001370298.3(FGD4):c.1923-7A>G rs200542541 0.00021
NM_001370298.3(FGD4):c.2193C>T (p.Ser731=) rs147136365 0.00021
NM_001370298.3(FGD4):c.2625T>C (p.Ala875=) rs200144770 0.00020
NM_001370298.3(FGD4):c.1404+10C>T rs374656859 0.00016
NM_001370298.3(FGD4):c.1759A>G (p.Met587Val) rs201186597 0.00016
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly) rs141237776 0.00015
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser) rs147969494 0.00014
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu) rs201915829 0.00011
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu) rs143251785 0.00011
NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val) rs1230547567 0.00010
NM_001370298.3(FGD4):c.2123C>A (p.Pro708His) rs145071617 0.00010
NM_001370298.3(FGD4):c.2220T>C (p.Asp740=) rs1031324844 0.00010
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser) rs555510533 0.00009
NM_001370298.3(FGD4):c.1543+13T>C rs762177862 0.00009
NM_001370298.3(FGD4):c.2517C>T (p.Ser839=) rs777555137 0.00009
NM_001370298.3(FGD4):c.1953+20C>T rs773153085 0.00008
NM_001370298.3(FGD4):c.603A>G (p.Gln201=) rs771558628 0.00008
NM_001370298.3(FGD4):c.1078A>C (p.Asn360His) rs761788290 0.00006
NM_001370298.3(FGD4):c.1485C>T (p.Leu495=) rs767265254 0.00006
NM_001370298.3(FGD4):c.1602+14G>A rs369728071 0.00006
NM_001370298.3(FGD4):c.2559C>T (p.Ser853=) rs373371535 0.00006
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met) rs774466701 0.00006
NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn) rs113416502 0.00006
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln) rs144980336 0.00006
NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg) rs200149526 0.00005
NM_001370298.3(FGD4):c.1602+13C>T rs557373932 0.00005
NM_001370298.3(FGD4):c.2436C>T (p.Tyr812=) rs528628927 0.00005
NM_001370298.3(FGD4):c.1402del (p.Gln468fs) rs1393673267 0.00004
NM_001370298.3(FGD4):c.1749+13G>A rs373049957 0.00004
NM_001370298.3(FGD4):c.1809A>T (p.Thr603=) rs1220106574 0.00004
NM_001370298.3(FGD4):c.1922+11C>T rs765969178 0.00004
NM_001370298.3(FGD4):c.2046+10A>G rs374150424 0.00004
NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr) rs145630882 0.00004
NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro) rs369365466 0.00004
NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro) rs989660324 0.00004
NM_001370298.3(FGD4):c.546G>A (p.Val182=) rs148304644 0.00004
NM_001370298.3(FGD4):c.831A>C (p.Ala277=) rs529268397 0.00004
NM_001370298.3(FGD4):c.1338A>C (p.Ala446=) rs1454504656 0.00003
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00003
NM_001370298.3(FGD4):c.1842A>G (p.Lys614=) rs1023207495 0.00003
NM_001370298.3(FGD4):c.1953+7C>T rs1408854259 0.00003
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg) rs199546503 0.00003
NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr) rs750531320 0.00003
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp) rs907657345 0.00003
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=) rs201822384 0.00003
NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val) rs187012686 0.00003
NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly) rs756201273 0.00003
NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg) rs775920519 0.00003
NM_001370298.3(FGD4):c.2652A>G (p.Pro884=) rs1294353519 0.00003
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg) rs371407163 0.00003
NM_001370298.3(FGD4):c.469G>A (p.Val157Ile) rs755068251 0.00003
NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys) rs758603361 0.00003
NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys) rs750143546 0.00003
NM_001370298.3(FGD4):c.1248-3C>A rs755168497 0.00002
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) rs773609461 0.00002
NM_001370298.3(FGD4):c.1339A>G (p.Met447Val) rs368451193 0.00002
NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln) rs138762438 0.00002
NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu) rs778471949 0.00002
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln) rs749692745 0.00002
NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val) rs1060501903 0.00002
NM_001370298.3(FGD4):c.2067A>G (p.Arg689=) rs1488014686 0.00002
NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys) rs759496422 0.00002
NM_001370298.3(FGD4):c.2172+8A>T rs761674021 0.00002
NM_001370298.3(FGD4):c.2313+11T>C rs200030176 0.00002
NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala) rs776258252 0.00002
NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly) rs1161650860 0.00002
NM_001370298.3(FGD4):c.*5177G>A rs777896036 0.00001
NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu) rs765738675 0.00001
NM_001370298.3(FGD4):c.1101+14T>C rs370504841 0.00001
NM_001370298.3(FGD4):c.1101+15C>A rs765678800 0.00001
NM_001370298.3(FGD4):c.1102-10T>G rs757366254 0.00001
NM_001370298.3(FGD4):c.1102-5T>A rs1459339879 0.00001
NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln) rs372866502 0.00001
NM_001370298.3(FGD4):c.1194T>C (p.Asn398=) rs201678865 0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln) rs756169087 0.00001
NM_001370298.3(FGD4):c.1248-13A>G rs551481786 0.00001
NM_001370298.3(FGD4):c.1248-17T>C rs376455877 0.00001
NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe) rs1204289708 0.00001
NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile) rs768392772 0.00001
NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys) rs1131691854 0.00001
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln) rs1415031307 0.00001
NM_001370298.3(FGD4):c.1488T>G (p.Leu496=) rs750201776 0.00001
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr) rs755934741 0.00001
NM_001370298.3(FGD4):c.1543+8_1543+9insG rs1555216986 0.00001
NM_001370298.3(FGD4):c.1602+7G>A rs369751598 0.00001
NM_001370298.3(FGD4):c.1603-9A>G rs1555217855 0.00001
NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys) rs756885149 0.00001
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val) rs750265200 0.00001
NM_001370298.3(FGD4):c.1749+3G>A rs542398408 0.00001
NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile) rs1949690181 0.00001
NM_001370298.3(FGD4):c.1906C>T (p.Leu636=) rs182397244 0.00001
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu) rs1217036684 0.00001
NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys) rs769604865 0.00001
NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn) rs774787616 0.00001
NM_001370298.3(FGD4):c.2046+18C>A rs1950066689 0.00001
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter) rs751404531 0.00001
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter) rs899737461 0.00001
NM_001370298.3(FGD4):c.2133A>G (p.Ala711=) rs771910342 0.00001
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter) rs778377449 0.00001
NM_001370298.3(FGD4):c.2148G>A (p.Arg716=) rs372451301 0.00001
NM_001370298.3(FGD4):c.2172+12T>G rs945554080 0.00001
NM_001370298.3(FGD4):c.2173-20A>C rs1248910039 0.00001
NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val) rs764635514 0.00001
NM_001370298.3(FGD4):c.2331A>G (p.Val777=) rs909875227 0.00001
NM_001370298.3(FGD4):c.2349G>A (p.Val783=) rs751146762 0.00001
NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser) rs749404822 0.00001
NM_001370298.3(FGD4):c.2455-5T>G rs749267223 0.00001
NM_001370298.3(FGD4):c.2481A>T (p.Pro827=) rs772795536 0.00001
NM_001370298.3(FGD4):c.2499G>A (p.Val833=) rs1249630170 0.00001
NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu) rs751777807 0.00001
NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg) rs777302433 0.00001
NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu) rs746459196 0.00001
NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn) rs770729087 0.00001
NM_001370298.3(FGD4):c.2616C>T (p.Ile872=) rs759982135 0.00001
NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val) rs1951104872 0.00001
NM_001370298.3(FGD4):c.2685T>C (p.Pro895=) rs1261222765 0.00001
NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr) rs374980260 0.00001
NM_001370298.3(FGD4):c.441T>C (p.Ser147=) rs748732880 0.00001
NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly) rs1223446306 0.00001
NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile) rs1390487641 0.00001
NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser) rs1555209302 0.00001
NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu) rs747690428 0.00001
NM_001370298.3(FGD4):c.612C>T (p.Leu204=) rs141920723 0.00001
NM_001370298.3(FGD4):c.624G>A (p.Leu208=) rs1213300520 0.00001
NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu) rs61754560 0.00001
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) rs201660852 0.00001
NM_001370298.3(FGD4):c.708G>T (p.Gln236His) rs936490141 0.00001
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys) rs752621629 0.00001
NM_001370298.3(FGD4):c.786G>A (p.Thr262=) rs374075663 0.00001
NM_001370298.3(FGD4):c.789C>G (p.His263Gln) rs757469397 0.00001
NM_001370298.3(FGD4):c.790A>G (p.Ile264Val) rs768685900 0.00001
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly) rs759415605 0.00001
NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile) rs1208033042 0.00001
NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly) rs1242400732 0.00001
NM_001370298.3(FGD4):c.945A>G (p.Val315=) rs756774860 0.00001
NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys) rs148406003 0.00001
NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp) rs1487363420 0.00001
NM_001370298.3(FGD4):c.999C>T (p.His333=) rs748534766 0.00001
NC_000012.11:g.(?_32729292)_(32793467_?)del
NC_000012.11:g.(?_32729292)_(32793467_?)dup
NC_000012.11:g.(?_32786463)_(32793467_?)dup
NC_000012.12:g.(?_32576256)_(32640543_?)del
NC_000012.12:g.(?_32576352)_(32619876_?)del
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NM_001370298.3(FGD4):c.*2928_*2931del rs549931906
NM_001370298.3(FGD4):c.*3113TA[4] rs57627640
NM_001370298.3(FGD4):c.*3113TA[6] rs57627640
NM_001370298.3(FGD4):c.*3148del rs797002948
NM_001370298.3(FGD4):c.*3894_*3895del rs780175220
NM_001370298.3(FGD4):c.*4369dup rs35874340
NM_001370298.3(FGD4):c.*4772dup rs567814235
NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly) rs1304257221
NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile) rs1592295526
NM_001370298.3(FGD4):c.1011+13A>G rs2136436231
NM_001370298.3(FGD4):c.1012-11C>G
NM_001370298.3(FGD4):c.1012-12T>C
NM_001370298.3(FGD4):c.1012-19A>C rs779138200
NM_001370298.3(FGD4):c.1012-19A>G
NM_001370298.3(FGD4):c.1014G>A (p.Glu338=)
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter) rs201676628
NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)
NM_001370298.3(FGD4):c.1051del (p.Leu351fs) rs1948089932
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr) rs1211624997
NM_001370298.3(FGD4):c.1071T>G (p.Ala357=) rs781493748
NM_001370298.3(FGD4):c.1077C>T (p.Val359=)
NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln) rs903824731
NM_001370298.3(FGD4):c.1101+6A>T rs1948094442
NM_001370298.3(FGD4):c.1101+7T>A
NM_001370298.3(FGD4):c.1102-20T>C
NM_001370298.3(FGD4):c.1102-4T>G
NM_001370298.3(FGD4):c.1102-6A>G
NM_001370298.3(FGD4):c.1113C>T (p.Cys371=) rs1023107131
NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter) rs1948408994
NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)
NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val) rs1295394925
NM_001370298.3(FGD4):c.1156A>G (p.Met386Val) rs1948410675
NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)
NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)
NM_001370298.3(FGD4):c.1202A>T (p.His401Leu) rs2136650004
NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)
NM_001370298.3(FGD4):c.1248-11A>G
NM_001370298.3(FGD4):c.1248-19T>G
NM_001370298.3(FGD4):c.1248-3C>T
NM_001370298.3(FGD4):c.1248-4A>G
NM_001370298.3(FGD4):c.1248-7G>A rs2136658308
NM_001370298.3(FGD4):c.1248-9T>A rs2136658280
NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val) rs2136658541
NM_001370298.3(FGD4):c.1284A>G (p.Lys428=) rs1224103433
NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser) rs2136658634
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu) rs2136659122
NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)
NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr) rs1451834045
NM_001370298.3(FGD4):c.1344A>G (p.Glu448=) rs1160194150
NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)
NM_001370298.3(FGD4):c.1368T>A (p.Arg456=)
NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)
NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser) rs2136659608
NM_001370298.3(FGD4):c.1387G>A (p.Val463Met) rs2136659690
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile) rs2082190695
NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)
NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala) rs2136659782
NM_001370298.3(FGD4):c.1404+20C>T
NM_001370298.3(FGD4):c.1404+2T>A rs1948478259
NM_001370298.3(FGD4):c.1404+4A>T rs767855809
NM_001370298.3(FGD4):c.1404+5dup rs2136659935
NM_001370298.3(FGD4):c.1404+6A>T rs2136659955
NM_001370298.3(FGD4):c.1405-7A>T
NM_001370298.3(FGD4):c.1413A>G (p.Lys471=) rs2136723717
NM_001370298.3(FGD4):c.1444A>G (p.Met482Val) rs1404084092
NM_001370298.3(FGD4):c.1454C>A (p.Pro485His) rs928398769
NM_001370298.3(FGD4):c.1454del (p.Pro485fs) rs1592387932
NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro) rs138762438
NM_001370298.3(FGD4):c.1470C>A (p.Pro490=) rs16920084
NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)
NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn) rs1948897635
NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu) rs1948899992
NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val) rs754600353
NM_001370298.3(FGD4):c.1543+17del rs548627916
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.1543+18del
NM_001370298.3(FGD4):c.1543+8C>T rs75622900
NM_001370298.3(FGD4):c.1543+9T>C
NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln) rs2136725845
NM_001370298.3(FGD4):c.1544-17del
NM_001370298.3(FGD4):c.1544-19T>G
NM_001370298.3(FGD4):c.1545A>G (p.Lys515=)
NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala) rs1396328756
NM_001370298.3(FGD4):c.1548A>G (p.Ser516=)
NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe) rs1949089197
NM_001370298.3(FGD4):c.1602+1G>C rs2136763097
NM_001370298.3(FGD4):c.1603-9A>T rs1555217855
NM_001370298.3(FGD4):c.1605G>A (p.Glu535=) rs746263549
NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp) rs746263549
NM_001370298.3(FGD4):c.1608C>T (p.Asn536=)
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=) rs750265200
NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)
NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)
NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del) rs1264651352
NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)
NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu) rs773514635
NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr) rs759385629
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg) rs2136769216
NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys) rs1949117700
NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His) rs1555217941
NM_001370298.3(FGD4):c.1749+11T>C rs1195832498
NM_001370298.3(FGD4):c.1749+15G>A
NM_001370298.3(FGD4):c.1749+18G>C rs2136769839
NM_001370298.3(FGD4):c.1750-11G>A
NM_001370298.3(FGD4):c.1755C>T (p.Asn585=) rs2136878570
NM_001370298.3(FGD4):c.1788C>T (p.Ser596=)
NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro) rs2136879170
NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)
NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser) rs2136879434
NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln) rs1949689887
NM_001370298.3(FGD4):c.1866A>G (p.Glu622=)
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
NM_001370298.3(FGD4):c.1893G>A (p.Gly631=)
NM_001370298.3(FGD4):c.1922+10C>T
NM_001370298.3(FGD4):c.1922+4A>G rs760192025
NM_001370298.3(FGD4):c.1923-6_1923-2del rs1950025678
NM_001370298.3(FGD4):c.1923-7A>T
NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)
NM_001370298.3(FGD4):c.1929G>T (p.Ala643=) rs11052110
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) rs2136932206
NM_001370298.3(FGD4):c.1953+7C>G rs1408854259
NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser) rs1592452330
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser) rs760696455
NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr) rs150746174
NM_001370298.3(FGD4):c.2046+15A>G rs2136939057
NM_001370298.3(FGD4):c.2055G>A (p.Glu685=) rs2136945519
NM_001370298.3(FGD4):c.2070C>A (p.Ala690=) rs188104446
NM_001370298.3(FGD4):c.2076A>G (p.Arg692=)
NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile) rs1267580970
NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg) rs1950119263
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala) rs144693221
NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser) rs144693221
NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu) rs145071617
NM_001370298.3(FGD4):c.2130T>C (p.Asn710=) rs1462411791
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln) rs372890690
NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg) rs1432249262
NM_001370298.3(FGD4):c.2169A>C (p.Gly723=) rs200761894
NM_001370298.3(FGD4):c.2172+11T>C
NM_001370298.3(FGD4):c.2172+18A>G
NM_001370298.3(FGD4):c.2172+7del
NM_001370298.3(FGD4):c.2173-19T>C
NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg) rs1950617596
NM_001370298.3(FGD4):c.2230T>C (p.Leu744=)
NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe) rs1950618963
NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG rs1950619177
NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala) rs1950619446
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs) rs1401878479
NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)
NM_001370298.3(FGD4):c.2262C>T (p.Ile754=) rs1269801867
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs) rs1555223595
NM_001370298.3(FGD4):c.2278G>C (p.Asp760His) rs2137024260
NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly) rs139663812
NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val) rs1484964809
NM_001370298.3(FGD4):c.2292G>A (p.Lys764=)
NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001370298.3(FGD4):c.2313+5G>C rs777362500
NM_001370298.3(FGD4):c.2314-18T>G
NM_001370298.3(FGD4):c.2325A>G (p.Ala775=)
NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)
NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys) rs1555224749
NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala) rs1296247975
NM_001370298.3(FGD4):c.2346G>T (p.Val782=) rs1950988125
NM_001370298.3(FGD4):c.2361T>G (p.Leu787=) rs1358873743
NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln) rs1276989118
NM_001370298.3(FGD4):c.2404G>A (p.Val802Met) rs768786804
NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)
NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)
NM_001370298.3(FGD4):c.2433G>A (p.Leu811=) rs2137076847
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs) rs2137076976
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
NM_001370298.3(FGD4):c.2451C>T (p.Pro817=) rs1314359233
NM_001370298.3(FGD4):c.2452del (p.Gln818fs) rs1060501904
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
NM_001370298.3(FGD4):c.2454+19T>A rs1950996056
NM_001370298.3(FGD4):c.2455-10T>C rs1592514932
NM_001370298.3(FGD4):c.2455-7T>C rs2137091888
NM_001370298.3(FGD4):c.2457C>T (p.Asp819=)
NM_001370298.3(FGD4):c.2472C>T (p.Ala824=) rs370230063
NM_001370298.3(FGD4):c.2475C>T (p.Thr825=) rs1356498279
NM_001370298.3(FGD4):c.2490C>T (p.Gly830=) rs1951094637
NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys) rs760349455
NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser) rs145630882
NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu) rs1336663423
NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu) rs1951098766
NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu) rs61753359
NM_001370298.3(FGD4):c.2562G>T (p.Val854=) rs969579366
NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr) rs908838682
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs) rs1951100155
NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val) rs1592515601
NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln) rs1592515619
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile) rs1411372303
NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser) rs775920519
NM_001370298.3(FGD4):c.2663del (p.Pro888fs) rs745923777
NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)
NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp) rs2137094596
NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val) rs2137094596
NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)
NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr) rs1161666501
NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)
NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter) rs752612218
NM_001370298.3(FGD4):c.412A>G (p.Met138Val) rs1946127146
NM_001370298.3(FGD4):c.417G>A (p.Glu139=) rs1946127489
NM_001370298.3(FGD4):c.435T>A (p.Ser145=)
NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu) rs2136376441
NM_001370298.3(FGD4):c.468G>A (p.Lys156=) rs1427707678
NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu) rs540449675
NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)
NM_001370298.3(FGD4):c.503+3A>C rs2136376879
NM_001370298.3(FGD4):c.504-20C>G rs1592293275
NM_001370298.3(FGD4):c.504-2A>C
NM_001370298.3(FGD4):c.504-8T>C
NM_001370298.3(FGD4):c.504-9A>G
NM_001370298.3(FGD4):c.510A>G (p.Leu170=)
NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)
NM_001370298.3(FGD4):c.600A>G (p.Gln200=)
NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del) rs763887179
NM_001370298.3(FGD4):c.609C>A (p.Leu203=)
NM_001370298.3(FGD4):c.610C>G (p.Leu204Val) rs906371311
NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)
NM_001370298.3(FGD4):c.616del (p.Gln206fs) rs2136432373
NM_001370298.3(FGD4):c.621C>T (p.His207=)
NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)
NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser) rs1282163986
NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe) rs201660852
NM_001370298.3(FGD4):c.675T>C (p.Cys225=)
NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser) rs1465985805
NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)
NM_001370298.3(FGD4):c.696A>C (p.Ala232=) rs2136433041
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr) rs1946667139
NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del) rs1314855895
NM_001370298.3(FGD4):c.720G>A (p.Glu240=) rs1232883602
NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu) rs1320412245
NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr) rs1946669350
NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys) rs1946671502
NM_001370298.3(FGD4):c.764C>T (p.Ala255Val) rs1946672101
NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg) rs200732890
NM_001370298.3(FGD4):c.798T>C (p.Asn266=)
NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)
NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)
NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)
NM_001370298.3(FGD4):c.828T>A (p.Pro276=) rs1295234161
NM_001370298.3(FGD4):c.831A>G (p.Ala277=)
NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala) rs1463004734
NM_001370298.3(FGD4):c.840A>C (p.Thr280=)
NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001370298.3(FGD4):c.854A>T (p.Asp285Val) rs1565869688
NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)
NM_001370298.3(FGD4):c.867T>C (p.Ser289=)
NM_001370298.3(FGD4):c.888A>G (p.Pro296=)
NM_001370298.3(FGD4):c.900_902del (p.Val301del)
NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)
NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly) rs1452437045
NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys) rs1592295272
NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp) rs1946688403
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
NM_001370298.3(FGD4):c.996G>A (p.Gln332=)

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