NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)
|
rs80358194
|
0.00016
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NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr)
|
rs377669670
|
0.00007
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
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NM_012186.3(FOXE3):c.291C>G (p.Ile97Met)
|
rs762006562
|
0.00002
|
NM_000193.4(SHH):c.562+1G>A
|
|
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NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)
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NM_000325.6(PITX2):c.293dup (p.His98fs)
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|
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NM_000325.6(PITX2):c.302_303del (p.Ser101fs)
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|
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NM_000325.6(PITX2):c.344G>A (p.Arg115His)
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rs104893862
|
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NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)
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|
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NM_000325.6(PITX2):c.411+1G>A
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rs1728998905
|
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NM_000325.6(PITX2):c.412-11A>G
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rs1198152064
|
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NM_000325.6(PITX2):c.412-1G>A
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|
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NM_000325.6(PITX2):c.412-2A>G
|
rs1553922583
|
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NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)
|
rs772800095
|
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NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)
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|
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NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)
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|
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NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)
|
rs104893859
|
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NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)
|
rs104893859
|
|
NM_000325.6(PITX2):c.448_449del (p.Arg150fs)
|
rs2110432091
|
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NM_000325.6(PITX2):c.503_506del (p.Asn168fs)
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|
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NM_000325.6(PITX2):c.515del (p.Gln172fs)
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|
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NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)
|
rs951710742
|
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NM_000325.6(PITX2):c.525del (p.Asp175fs)
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|
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NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)
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|
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NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)
|
rs104893860
|
|
NM_000325.6(PITX2):c.663del (p.Asn222fs)
|
|
|
NM_000325.6(PITX2):c.790del (p.Val264fs)
|
|
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NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)
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|
|
NM_000325.6(PITX2):c.867_889del (p.Ser290fs)
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|
|
NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)
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|
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NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)
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|
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NM_001453.3(FOXC1):c.1430del (p.Gln477fs)
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|
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NM_001453.3(FOXC1):c.1508del (p.Asn503fs)
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|
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NM_001453.3(FOXC1):c.176dup (p.Met60fs)
|
|
|
NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)
|
|
|
NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)
|
rs376405759
|
|
NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)
|
|
|
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
|
|
|
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)
|
rs104893951
|
|
NM_001453.3(FOXC1):c.354del (p.Asn118fs)
|
|
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NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
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|
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NM_001453.3(FOXC1):c.380G>A (p.Arg127His)
|
rs1085307884
|
|
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
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|
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NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)
|
rs1581373890
|
|
NM_001453.3(FOXC1):c.65dup (p.Gln23fs)
|
|
|
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
|
rs1057519480
|
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NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)
|
|
|
NM_001453.3(FOXC1):c.821del (p.Pro274fs)
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|
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NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)
|
|
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NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
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NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)
|
|
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NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)
|
rs1565753611
|
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NM_004491.5(ARHGAP35):c.1849C>T (p.Arg617Ter)
|
|
|
NM_004491.5(ARHGAP35):c.4251del (p.Thr1418fs)
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|
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NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs)
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|
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NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
|
|
|
NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs)
|
rs2124041750
|
|
NM_012186.3(FOXE3):c.21_24del (p.Met7fs)
|
rs1464817302
|
|
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val)
|
rs774505755
|
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NM_012186.3(FOXE3):c.543del (p.Pro182fs)
|
rs2124043339
|
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NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer)
|
rs1476879051
|
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NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg)
|
rs2124045186
|
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NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser)
|
rs387906793
|
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NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)
|
|
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NM_170606.3(KMT2C):c.103del (p.Arg35fs)
|
|
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