NM_000168.6(GLI3):c.1356+11G>C
|
rs846273
|
0.97240
|
NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln)
|
rs2228226
|
0.68037
|
NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp)
|
rs2228224
|
0.47688
|
NM_005269.3(GLI1):c.576G>A (p.Glu192=)
|
rs2228225
|
0.47502
|
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu)
|
rs929387
|
0.31467
|
NM_022458.4(LMBR1):c.*383T>C
|
rs3487
|
0.17784
|
NM_022458.4(LMBR1):c.*1325C>T
|
rs1053214
|
0.17503
|
NM_022458.4(LMBR1):c.*2089G>A
|
rs17837686
|
0.13188
|
NM_022458.4(LMBR1):c.1092C>T (p.Val364=)
|
rs59912051
|
0.10405
|
NM_022458.4(LMBR1):c.*89A>T
|
rs3735186
|
0.08395
|
NM_000168.6(GLI3):c.900C>T (p.Ser300=)
|
rs35961850
|
0.07677
|
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala)
|
rs6957768
|
0.07428
|
NM_022458.4(LMBR1):c.*1444T>G
|
rs17837687
|
0.04775
|
NM_022458.4(LMBR1):c.*1971A>T
|
rs12530942
|
0.03709
|
NM_000168.6(GLI3):c.-42-11G>C
|
rs80019165
|
0.03314
|
NM_022458.4(LMBR1):c.357T>C (p.Cys119=)
|
rs112583005
|
0.03004
|
NM_022458.4(LMBR1):c.*91C>T
|
rs75853117
|
0.02727
|
NM_022458.4(LMBR1):c.*2603A>G
|
rs1014236
|
0.02144
|
NM_022458.4(LMBR1):c.*1922A>G
|
rs75582340
|
0.01984
|
NM_022458.4(LMBR1):c.*722G>C
|
rs11982416
|
0.01743
|
NM_022458.4(LMBR1):c.*1905C>G
|
rs115581794
|
0.01706
|
NM_000168.6(GLI3):c.1029-7C>T
|
rs78280303
|
0.01279
|
NM_022458.4(LMBR1):c.*15G>A
|
rs78838110
|
0.00995
|
NM_000168.6(GLI3):c.1029-11C>T
|
rs116195563
|
0.00867
|
NM_000168.6(GLI3):c.368-19G>A
|
rs79879393
|
0.00858
|
NM_022458.4(LMBR1):c.*2489T>C
|
rs191993720
|
0.00644
|
NM_000168.6(GLI3):c.2802G>A (p.Ala934=)
|
rs61730503
|
0.00520
|
NM_022458.4(LMBR1):c.*1797G>C
|
rs113036233
|
0.00464
|
NM_022458.4(LMBR1):c.*303T>C
|
rs115465818
|
0.00434
|
NM_022458.4(LMBR1):c.*685G>A
|
rs149399222
|
0.00426
|
NM_022458.4(LMBR1):c.*2609C>T
|
rs114295738
|
0.00371
|
NM_022458.4(LMBR1):c.*36C>T
|
rs79881605
|
0.00349
|
NM_022458.4(LMBR1):c.*100T>G
|
rs111554843
|
0.00347
|
NM_022458.4(LMBR1):c.*3207T>G
|
rs116521088
|
0.00342
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
NM_000168.6(GLI3):c.2373G>A (p.Pro791=)
|
rs61754622
|
0.00267
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
NM_000168.6(GLI3):c.1028+15G>A
|
rs116842918
|
0.00250
|
NM_022458.4(LMBR1):c.*2081G>A
|
rs113867033
|
0.00235
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_000168.6(GLI3):c.280C>T (p.Leu94=)
|
rs115137047
|
0.00193
|
NM_000168.6(GLI3):c.444C>T (p.Tyr148=)
|
rs142241970
|
0.00191
|
NM_022458.4(LMBR1):c.-176G>A
|
rs886062124
|
0.00170
|
NM_022458.4(LMBR1):c.*1357A>G
|
rs568810522
|
0.00153
|
NM_022458.4(LMBR1):c.*2926G>C
|
rs148658727
|
0.00148
|
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=)
|
rs143948870
|
0.00123
|
NM_022458.4(LMBR1):c.*1150A>G
|
rs560435795
|
0.00118
|
NM_022458.4(LMBR1):c.*2477G>A
|
rs151167124
|
0.00116
|
NM_022458.4(LMBR1):c.*1359G>A
|
rs565001458
|
0.00115
|
NM_022458.4(LMBR1):c.*1061A>G
|
rs138905233
|
0.00093
|
NM_000168.6(GLI3):c.501G>A (p.Thr167=)
|
rs149901929
|
0.00084
|
NM_022458.4(LMBR1):c.*2065A>G
|
rs146931391
|
0.00077
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00077
|
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)
|
rs149860242
|
0.00076
|
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)
|
rs139646169
|
0.00069
|
NM_000168.6(GLI3):c.1647+13G>A
|
rs149955824
|
0.00066
|
NM_022458.4(LMBR1):c.*1469C>T
|
rs184156281
|
0.00061
|
NM_022458.4(LMBR1):c.*2667A>T
|
rs187134101
|
0.00037
|
NM_022458.4(LMBR1):c.*2761G>A
|
rs182572414
|
0.00035
|
NM_022458.4(LMBR1):c.*1841T>A
|
rs1012360796
|
0.00034
|
NM_000168.6(GLI3):c.211G>A (p.Val71Ile)
|
rs143843875
|
0.00031
|
NM_000168.6(GLI3):c.1242+8G>A
|
rs75925934
|
0.00026
|
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp)
|
rs145069572
|
0.00025
|
NM_022458.4(LMBR1):c.*2905T>A
|
rs574914124
|
0.00025
|
NM_022458.4(LMBR1):c.*11C>T
|
rs375283454
|
0.00024
|
NM_000168.6(GLI3):c.30C>T (p.Thr10=)
|
rs148154157
|
0.00023
|
NM_000168.6(GLI3):c.474-4C>T
|
rs74536326
|
0.00023
|
NM_022458.4(LMBR1):c.462T>G (p.Leu154=)
|
rs765231166
|
0.00023
|
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro)
|
rs201194692
|
0.00022
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)
|
rs376725882
|
0.00016
|
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val)
|
rs140722848
|
0.00015
|
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)
|
rs1359183911
|
0.00014
|
NM_000168.6(GLI3):c.168C>T (p.Asn56=)
|
rs376845825
|
0.00013
|
NM_022458.4(LMBR1):c.*2500A>G
|
rs566692462
|
0.00013
|
NM_022458.4(LMBR1):c.*728G>A
|
rs886062116
|
0.00012
|
NM_000168.6(GLI3):c.367+20G>A
|
rs371365628
|
0.00011
|
NM_000168.6(GLI3):c.411T>C (p.Ile137=)
|
rs200203051
|
0.00011
|
NM_022458.4(LMBR1):c.*2596A>G
|
rs550168152
|
0.00011
|
NM_022458.4(LMBR1):c.-91C>G
|
rs3735184
|
0.00011
|
NM_022458.4(LMBR1):c.432A>G (p.Arg144=)
|
rs141871054
|
0.00011
|
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr)
|
rs367632078
|
0.00011
|
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)
|
rs140479817
|
0.00010
|
NM_022458.4(LMBR1):c.*2016C>T
|
rs529448700
|
0.00010
|
NM_022458.4(LMBR1):c.*305G>A
|
rs771023322
|
0.00010
|
NM_000168.6(GLI3):c.288C>T (p.His96=)
|
rs200905584
|
0.00009
|
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg)
|
rs372740903
|
0.00009
|
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=)
|
rs145513625
|
0.00009
|
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)
|
rs140772904
|
0.00009
|
NM_022458.4(LMBR1):c.*1470G>A
|
rs549976103
|
0.00009
|
NM_022458.4(LMBR1):c.*1608C>T
|
rs749633714
|
0.00009
|
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu)
|
rs182641358
|
0.00009
|
NM_022458.4(LMBR1):c.474G>A (p.Ala158=)
|
rs201832150
|
0.00008
|
NM_000168.6(GLI3):c.1740C>T (p.His580=)
|
rs146154710
|
0.00007
|
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=)
|
rs201112421
|
0.00007
|
NM_000168.6(GLI3):c.528C>T (p.Ile176=)
|
rs539622820
|
0.00007
|
NM_022458.4(LMBR1):c.*1172C>T
|
rs1163939803
|
0.00007
|
NM_022458.4(LMBR1):c.*2297C>T
|
rs367713862
|
0.00007
|
NM_000168.6(GLI3):c.1800G>A (p.Thr600=)
|
rs138445547
|
0.00006
|
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)
|
rs369237977
|
0.00006
|
NM_000168.6(GLI3):c.240C>T (p.Asp80=)
|
rs149400571
|
0.00006
|
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=)
|
rs202059951
|
0.00006
|
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)
|
rs138100963
|
0.00006
|
NM_022458.4(LMBR1):c.*1358C>T
|
rs150263103
|
0.00006
|
NM_022458.4(LMBR1):c.*2066G>C
|
rs560208746
|
0.00006
|
NM_022458.4(LMBR1):c.*2706A>G
|
rs775444879
|
0.00006
|
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=)
|
rs140247020
|
0.00006
|
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu)
|
rs147215221
|
0.00006
|
NM_000168.6(GLI3):c.1365C>T (p.Pro455=)
|
rs544431683
|
0.00005
|
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)
|
rs749807129
|
0.00005
|
NM_022458.4(LMBR1):c.*2088C>T
|
rs185766032
|
0.00005
|
NM_022458.4(LMBR1):c.*2820G>A
|
rs550075183
|
0.00005
|
NM_000168.6(GLI3):c.1540G>A (p.Val514Met)
|
rs148502119
|
0.00004
|
NM_000168.6(GLI3):c.2307G>A (p.Pro769=)
|
rs766163765
|
0.00004
|
NM_000168.6(GLI3):c.2706C>T (p.Ala902=)
|
rs779103816
|
0.00004
|
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)
|
rs543636524
|
0.00004
|
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys)
|
rs748031460
|
0.00004
|
NM_022458.4(LMBR1):c.*2020T>C
|
rs567467797
|
0.00004
|
NM_022458.4(LMBR1):c.*2262G>A
|
rs911647400
|
0.00004
|
NM_022458.4(LMBR1):c.204C>T (p.Leu68=)
|
rs766669976
|
0.00004
|
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser)
|
rs568570543
|
0.00004
|
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg)
|
rs374123528
|
0.00003
|
NM_000168.6(GLI3):c.974G>A (p.Arg325His)
|
rs781356257
|
0.00003
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
NM_022458.4(LMBR1):c.*2147T>C
|
rs1273499025
|
0.00003
|
NM_022458.4(LMBR1):c.*246G>A
|
rs745661512
|
0.00003
|
NM_022458.4(LMBR1):c.*2798C>T
|
rs746253016
|
0.00003
|
NM_022458.4(LMBR1):c.*3180A>C
|
rs886062110
|
0.00003
|
NM_022458.4(LMBR1):c.*3187A>G
|
rs866814626
|
0.00003
|
NM_022458.4(LMBR1):c.-158G>A
|
rs886062123
|
0.00003
|
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)
|
rs143406263
|
0.00002
|
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)
|
rs1374541235
|
0.00002
|
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)
|
rs756156901
|
0.00002
|
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=)
|
rs369272004
|
0.00002
|
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)
|
rs758039889
|
0.00002
|
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val)
|
rs771132000
|
0.00001
|
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr)
|
rs375277249
|
0.00001
|
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)
|
rs761808583
|
0.00001
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
NM_000168.6(GLI3):c.246G>A (p.Arg82=)
|
rs890167751
|
0.00001
|
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile)
|
rs1283743237
|
0.00001
|
NM_000168.6(GLI3):c.252A>G (p.Ser84=)
|
rs1051536881
|
0.00001
|
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)
|
rs755227076
|
0.00001
|
NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg)
|
rs745986297
|
0.00001
|
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=)
|
rs1022587271
|
0.00001
|
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=)
|
rs370714837
|
0.00001
|
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu)
|
rs777149082
|
0.00001
|
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)
|
rs541487979
|
0.00001
|
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=)
|
rs755403372
|
0.00001
|
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp)
|
rs373003816
|
0.00001
|
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu)
|
rs1419861206
|
0.00001
|
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)
|
rs139274834
|
0.00001
|
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)
|
rs753690500
|
0.00001
|
NM_022458.4(LMBR1):c.*1363G>T
|
rs1032886313
|
0.00001
|
NM_022458.4(LMBR1):c.*1560T>A
|
rs1307260930
|
0.00001
|
NM_022458.4(LMBR1):c.*245C>T
|
rs1036026971
|
0.00001
|
NM_022458.4(LMBR1):c.*2658T>C
|
rs1205792107
|
0.00001
|
NM_022458.4(LMBR1):c.*457C>G
|
rs886062118
|
0.00001
|
NM_022458.4(LMBR1):c.-154G>A
|
rs886062122
|
0.00001
|
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=)
|
rs757854346
|
0.00001
|
NM_022458.4(LMBR1):c.1159-3C>T
|
rs369446617
|
0.00001
|
NM_022458.4(LMBR1):c.165C>T (p.Ile55=)
|
rs752415935
|
0.00001
|
NM_022458.4(LMBR1):c.423+4915C>T
|
rs587779752
|
0.00001
|
NM_022458.4(LMBR1):c.435C>T (p.Ala145=)
|
rs563054181
|
0.00001
|
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr)
|
rs148974610
|
0.00001
|
NM_022458.4(LMBR1):c.627A>G (p.Thr209=)
|
rs1227969762
|
0.00001
|
46;XX;t(7;14)(p15;q24)dn
|
|
|
46;XY;t(4;14)(p14;q11.2)dn
|
|
|
NM_000168.6(GLI3):c.1029-22dup
|
rs559579130
|
|
NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)
|
|
|
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)
|
rs912576738
|
|
NM_000168.6(GLI3):c.1357-9T>A
|
rs1583801330
|
|
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter)
|
rs1356013382
|
|
NM_000168.6(GLI3):c.1880_1881del (p.His627fs)
|
rs2128710014
|
|
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu)
|
rs373926115
|
|
NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)
|
|
|
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile)
|
rs886043721
|
|
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)
|
rs772839719
|
|
NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro)
|
rs1064796326
|
|
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg)
|
rs2128705843
|
|
NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)
|
rs1554304659
|
|
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs)
|
rs1583729562
|
|
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)
|
rs1476153727
|
|
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)
|
rs144128064
|
|
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter)
|
rs151222023
|
|
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)
|
rs1787103191
|
|
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)
|
rs41305933
|
|
NM_000168.6(GLI3):c.473+5G>A
|
rs1784885465
|
|
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)
|
rs121917713
|
|
NM_022458.4(LMBR1):c.*1259C>T
|
rs1180240267
|
|
NM_022458.4(LMBR1):c.*1347A>G
|
rs1805281351
|
|
NM_022458.4(LMBR1):c.*1534A>G
|
rs886062114
|
|
NM_022458.4(LMBR1):c.*166G>T
|
rs886062119
|
|
NM_022458.4(LMBR1):c.*1862T>A
|
rs886062113
|
|
NM_022458.4(LMBR1):c.*2080C>T
|
rs970281844
|
|
NM_022458.4(LMBR1):c.*2198C>G
|
rs116037533
|
|
NM_022458.4(LMBR1):c.*2451C>A
|
rs1351176342
|
|
NM_022458.4(LMBR1):c.*2458A>G
|
rs1805049784
|
|
NM_022458.4(LMBR1):c.*2519T>A
|
rs772161675
|
|
NM_022458.4(LMBR1):c.*2744G>T
|
rs886062112
|
|
NM_022458.4(LMBR1):c.*2771G>A
|
rs756411300
|
|
NM_022458.4(LMBR1):c.*2773G>T
|
rs886062111
|
|
NM_022458.4(LMBR1):c.*2899A>T
|
rs748449219
|
|
NM_022458.4(LMBR1):c.*2948G>T
|
rs777769323
|
|
NM_022458.4(LMBR1):c.*650A>G
|
rs886062117
|
|
NM_022458.4(LMBR1):c.*916C>A
|
rs182736380
|
|
NM_022458.4(LMBR1):c.-146C>T
|
rs751044177
|
|
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=)
|
rs60299355
|
|
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val)
|
rs886062120
|
|
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=)
|
rs376730383
|
|
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu)
|
rs886062121
|
|
NM_022458.4(LMBR1):c.423+4618C>G
|
rs606231146
|
|
NM_022458.4(LMBR1):c.423+4808T>C
|
rs606231152
|
|
NM_022458.4(LMBR1):c.423+4810G>A
|
rs606231230
|
|
NM_022458.4(LMBR1):c.423+4818A>T
|
rs606231148
|
|
NM_022458.4(LMBR1):c.423+4842T>C
|
rs606231149
|
|
NM_022458.4(LMBR1):c.423+4847T>G
|
rs606231231
|
|
NM_022458.4(LMBR1):c.423+4909C>T
|
rs606231153
|
|
NM_022458.4(LMBR1):c.423+5134C>G
|
rs606231151
|
|
NM_022458.4(LMBR1):c.423+5252A>G
|
rs606231150
|
|
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys)
|
rs756376000
|
|
NM_022458.4(LMBR1):c.528C>G (p.Ala176=)
|
rs138255184
|
|
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu)
|
rs1816107259
|
|
ZRS, 295T-C
|
|
|
ZRS, 297G-A
|
|
|
ZRS, 328C-G
|
|
|
ZRS, 329T-C
|
|
|
ZRS, 334T-G
|
|
|
ZRS, 396C-T
|
|
|
ZRS, 621C-G
|
|
|
ZRS, 739A-G
|
|
|