NM_005631.5(SMO):c.1727G>A (p.Arg576Gln)
|
rs577512487
|
0.00002
|
NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)
|
rs1006687669
|
0.00001
|
NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)
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rs767688088
|
0.00001
|
NM_005631.5(SMO):c.2291_2292del (p.Gln764fs)
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rs1157132860
|
0.00001
|
NM_005631.5(SMO):c.781C>T (p.Arg261Cys)
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rs755698791
|
0.00001
|
NC_000007.13:g.(?_39726267)_(42262852_?)del
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|
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NC_000007.13:g.(?_42000470)_(42005117_?)del
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NC_000007.13:g.(?_42088070)_(42088315_?)del
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|
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NC_000007.13:g.(?_42116331)_(42188087_?)del
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NC_000007.13:g.(?_42187805)_(42262872_?)del
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NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
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|
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NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)
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rs1583805203
|
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NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)
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rs1583801167
|
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NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)
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rs1562690271
|
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NM_000168.6(GLI3):c.1497+1G>A
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rs1399654830
|
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NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)
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|
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NM_000168.6(GLI3):c.1648delT (p.Phe550fs)
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|
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NM_000168.6(GLI3):c.1778del (p.Arg593fs)
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rs1583747773
|
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NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)
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rs1554306094
|
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NM_000168.6(GLI3):c.1878del (p.Lys626fs)
|
rs1554306093
|
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NM_000168.6(GLI3):c.1880_1881del (p.His627fs)
|
rs2128710014
|
|
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)
|
rs781422192
|
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NM_000168.6(GLI3):c.2012del (p.Gly671fs)
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rs116840743
|
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NM_000168.6(GLI3):c.2023del (p.Glu675fs)
|
rs116840744
|
|
NM_000168.6(GLI3):c.2090del (p.Ala697fs)
|
rs2128709888
|
|
NM_000168.6(GLI3):c.2146del (p.Gln716fs)
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|
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NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs)
|
rs116840754
|
|
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)
|
rs121917714
|
|
NM_000168.6(GLI3):c.2432-1G>A
|
rs2128706417
|
|
NM_000168.6(GLI3):c.245_299del (p.Arg82fs)
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|
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NM_000168.6(GLI3):c.2598del (p.Ile867fs)
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rs2128706315
|
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NM_000168.6(GLI3):c.2623del (p.Arg875fs)
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|
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NM_000168.6(GLI3):c.2632del (p.Glu878fs)
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|
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NM_000168.6(GLI3):c.2720del (p.Ser907fs)
|
rs1787182897
|
|
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)
|
|
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NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)
|
|
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NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)
|
rs116840766
|
|
NM_000168.6(GLI3):c.3325G>T (p.Glu1109Ter)
|
rs758667297
|
|
NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs)
|
rs2128705693
|
|
NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer)
|
rs116840767
|
|
NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter)
|
rs116840768
|
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NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)
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|
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NM_000168.6(GLI3):c.3454del (p.Glu1152fs)
|
rs1787146494
|
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NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)
|
rs116840770
|
|
NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs)
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|
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NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)
|
rs148043302
|
|
NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs)
|
rs1787131313
|
|
NM_000168.6(GLI3):c.3874del (p.Gln1292fs)
|
rs1787127981
|
|
NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)
|
rs1562657560
|
|
NM_000168.6(GLI3):c.3956dup (p.Gln1320fs)
|
rs2128705204
|
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NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)
|
|
|
NM_000168.6(GLI3):c.4020del (p.Gly1341fs)
|
|
|
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)
|
|
|
NM_000168.6(GLI3):c.4172del (p.Gly1391fs)
|
rs2128705042
|
|
NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)
|
|
|
NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs)
|
rs1787098071
|
|
NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)
|
|
|
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)
|
|
|
NM_000168.6(GLI3):c.4395del (p.Ser1466fs)
|
rs1554304380
|
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NM_000168.6(GLI3):c.4413del (p.Thr1472fs)
|
rs2128704887
|
|
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)
|
rs1057520063
|
|
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)
|
rs1562656759
|
|
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)
|
rs2128704828
|
|
NM_000168.6(GLI3):c.533dup (p.His179fs)
|
|
|
NM_000168.6(GLI3):c.548del (p.Thr183fs)
|
|
|
NM_000168.6(GLI3):c.558del (p.Glu187fs)
|
|
|
NM_000168.6(GLI3):c.602_675del (p.Met201fs)
|
rs2128742642
|
|
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)
|
rs1583505882
|
|
NM_000168.6(GLI3):c.836dup (p.Ser280fs)
|
|
|
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)
|
rs121917713
|
|
NM_000168.6(GLI3):c.877_881del (p.Thr293fs)
|
rs1784103216
|
|
NM_000168.6(GLI3):c.885del (p.Ile296fs)
|
rs1784103136
|
|
NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)
|
rs1788520333
|
|
NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)
|
rs1793814652
|
|
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
|
|
|