|
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)
|
rs55642501
|
0.00016
|
|
NM_023110.3(FGFR1):c.880G>A (p.Glu294Lys)
|
rs528376963
|
0.00003
|
|
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)
|
rs781205876
|
0.00003
|
|
NM_001377229.1(DISP1):c.743C>T (p.Ala248Val)
|
rs1029577112
|
0.00001
|
|
NM_003244.4(TGIF1):c.337C>T (p.Arg113Cys)
|
rs775078421
|
0.00001
|
|
NM_033163.5(FGF8):c.398C>T (p.Thr133Met)
|
rs61730334
|
0.00001
|
|
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)
|
rs886042458
|
|
|
NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)
|
rs1554493607
|
|
|
NM_000193.4(SHH):c.214C>T (p.Arg72Ter)
|
rs779093031
|
|
|
NM_000193.4(SHH):c.468C>A (p.Ser156Arg)
|
rs1554494372
|
|
|
NM_000193.4(SHH):c.629G>A (p.Gly210Asp)
|
rs1554493882
|
|
|
NM_000193.4(SHH):c.796C>T (p.Leu266Phe)
|
rs1420292012
|
|
|
NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)
|
rs1553745274
|
|
|
NM_005413.4(SIX3):c.169G>T (p.Gly57Cys)
|
rs1344650194
|
|
|
NM_005413.4(SIX3):c.441_451del (p.Leu148fs)
|
rs1553337688
|
|
|
NM_007129.3:c.1148_1464del
|
|
|
|
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer)
|
rs1060499562
|
|
|
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs)
|
rs1060499564
|
|
|
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup)
|
rs756225250
|
|
|
NM_007129.5(ZIC2):c.321del (p.Tyr108fs)
|
rs1555332212
|
|
|
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter)
|
rs1060499563
|
|
|
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)
|
rs1567417422
|
|
|
NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)
|
rs1060499550
|
|
|
NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)
|
rs1060499549
|
|
|
NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)
|
rs1060499551
|
|
|
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)
|
rs515726224
|
|
|
NM_023110.3(FGFR1):c.1601TGA[1] (p.Met535del)
|
rs1554551657
|
|
|
NM_023110.3(FGFR1):c.1604T>A (p.Met535Lys)
|
rs1554551667
|
|
|
NM_023110.3(FGFR1):c.1869C>G (p.Asp623Glu)
|
rs780009859
|
|
|
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)
|
rs869025671
|
|
|
NM_023110.3(FGFR1):c.1921G>A (p.Asp641Asn)
|
rs1554548253
|
|
|
NM_023110.3(FGFR1):c.454G>A (p.Ala152Thr)
|
rs1033377277
|
|
|
NM_033163.5(FGF8):c.157-1G>A
|
rs1554834892
|
|
|
NM_033163.5(FGF8):c.157G>C (p.Val53Leu)
|
rs1554834889
|
|
|
NM_033163.5(FGF8):c.356C>T (p.Thr119Met)
|
rs876661329
|
|
|
NM_033163.5(FGF8):c.444+1G>A
|
rs1490604080
|
|
|
NM_033163.5(FGF8):c.469G>T (p.Val157Phe)
|
rs139565972
|
|
|
NM_033163.5(FGF8):c.497A>G (p.Asn166Ser)
|
rs778082287
|
|
|
NM_033163.5(FGF8):c.559_573del (p.Arg187_Gly191del)
|
rs1554834321
|
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|