NM_022458.4(LMBR1):c.-176G>A
|
rs886062124
|
0.00170
|
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.*1841T>A
|
rs1012360796
|
0.00034
|
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)
|
rs376725882
|
0.00016
|
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)
|
rs1359183911
|
0.00014
|
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.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.3734A>G (p.His1245Arg)
|
rs372740903
|
0.00009
|
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)
|
rs140772904
|
0.00009
|
NM_022458.4(LMBR1):c.*1608C>T
|
rs749633714
|
0.00009
|
NM_022458.4(LMBR1):c.*1172C>T
|
rs1163939803
|
0.00007
|
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)
|
rs369237977
|
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.*2706A>G
|
rs775444879
|
0.00006
|
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)
|
rs749807129
|
0.00005
|
NM_022458.4(LMBR1):c.*2088C>T
|
rs185766032
|
0.00005
|
NM_000168.6(GLI3):c.1540G>A (p.Val514Met)
|
rs148502119
|
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.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.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.2520G>A (p.Met840Ile)
|
rs1283743237
|
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.3278C>T (p.Pro1093Leu)
|
rs777149082
|
0.00001
|
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)
|
rs541487979
|
0.00001
|
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp)
|
rs373003816
|
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.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.1343C>T (p.Ala448Val)
|
rs912576738
|
|
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu)
|
rs373926115
|
|
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.3877C>G (p.Leu1293Val)
|
rs1476153727
|
|
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)
|
rs144128064
|
|
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)
|
rs1787103191
|
|
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)
|
rs41305933
|
|
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.*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.1111T>G (p.Phe371Val)
|
rs886062120
|
|
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu)
|
rs886062121
|
|
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys)
|
rs756376000
|
|
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu)
|
rs1816107259
|
|