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
|
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NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
|
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|
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile)
|
rs1411372303
|
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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
|
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NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val)
|
rs2137094596
|
|
NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)
|
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|
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=)
|
|
|