NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)
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rs139569882
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0.00051
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NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=)
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rs143291826
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0.00040
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NM_004187.5(KDM5C):c.2595C>T (p.Cys865=)
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rs371450943
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0.00021
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NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
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rs201805773
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0.00019
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NM_004187.5(KDM5C):c.4039-4G>A
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rs371746707
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0.00018
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NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=)
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rs373545419
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0.00008
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NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
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rs373931846
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0.00006
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NM_004187.5(KDM5C):c.2204A>G (p.Asn735Ser)
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rs782088735
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0.00002
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NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu)
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rs199817424
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0.00002
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NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=)
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rs782180827
|
0.00001
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NM_004187.5(KDM5C):c.4133C>T (p.Ser1378Phe)
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rs1556833050
|
0.00001
|
GRCh37/hg19 Xp11.22(chrX:53253922-53254071)x0
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NM_004187.4(KDM5C):c.*1360A>G
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NM_004187.5(KDM5C):c.*124G>C
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NM_004187.5(KDM5C):c.*130C>A
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NM_004187.5(KDM5C):c.*130C>G
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rs782201442
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NM_004187.5(KDM5C):c.*193G>C
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NM_004187.5(KDM5C):c.*198C>A
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rs1556831635
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NM_004187.5(KDM5C):c.1353C>T (p.Ser451=)
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NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
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rs1057518697
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NM_004187.5(KDM5C):c.1593G>A (p.Pro531=)
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NM_004187.5(KDM5C):c.1712T>G (p.Met571Arg)
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NM_004187.5(KDM5C):c.1746+4_1746+7dup
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NM_004187.5(KDM5C):c.2049C>T (p.Ala683=)
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NM_004187.5(KDM5C):c.2095C>T (p.Leu699=)
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NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met)
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rs1064794733
|
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NM_004187.5(KDM5C):c.2139G>T (p.Thr713=)
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NM_004187.5(KDM5C):c.2167G>T (p.Asp723Tyr)
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NM_004187.5(KDM5C):c.2179G>A (p.Gly727Ser)
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NM_004187.5(KDM5C):c.2211C>G (p.Leu737=)
|
rs1569264078
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NM_004187.5(KDM5C):c.2242C>T (p.Arg748Trp)
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NM_004187.5(KDM5C):c.2278C>T (p.Leu760=)
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NM_004187.5(KDM5C):c.2373T>G (p.Leu791=)
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NM_004187.5(KDM5C):c.237G>A (p.Thr79=)
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NM_004187.5(KDM5C):c.2511A>G (p.Glu837=)
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NM_004187.5(KDM5C):c.2745G>A (p.Val915=)
|
rs1440517448
|
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NM_004187.5(KDM5C):c.2771A>G (p.Gln924Arg)
|
rs1934899342
|
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NM_004187.5(KDM5C):c.2795A>T (p.Asp932Val)
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NM_004187.5(KDM5C):c.2821del (p.Ser941fs)
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NM_004187.5(KDM5C):c.2919G>A (p.Leu973=)
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rs1934884363
|
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NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)
|
rs2146833113
|
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NM_004187.5(KDM5C):c.3174C>G (p.Gly1058=)
|
rs782153358
|
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NM_004187.5(KDM5C):c.3192G>T (p.Gly1064=)
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NM_004187.5(KDM5C):c.3383C>T (p.Ser1128Phe)
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NM_004187.5(KDM5C):c.3490C>T (p.Leu1164=)
|
rs2146823630
|
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NM_004187.5(KDM5C):c.3619G>A (p.Asp1207Asn)
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NM_004187.5(KDM5C):c.3652C>T (p.Arg1218Cys)
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NM_004187.5(KDM5C):c.3981C>T (p.Tyr1327=)
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NM_004187.5(KDM5C):c.3988G>A (p.Ala1330Thr)
|
rs1602160910
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NM_004187.5(KDM5C):c.398G>T (p.Arg133Leu)
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NM_004187.5(KDM5C):c.399G>T (p.Arg133=)
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NM_004187.5(KDM5C):c.4095G>A (p.Pro1365=)
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NM_004187.5(KDM5C):c.4156G>A (p.Gly1386Ser)
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NM_004187.5(KDM5C):c.418C>T (p.Arg140Cys)
|
rs1602230417
|
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NM_004187.5(KDM5C):c.4352G>A (p.Arg1451Gln)
|
rs1437945152
|
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NM_004187.5(KDM5C):c.4518C>G (p.Gly1506=)
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NM_004187.5(KDM5C):c.4675C>A (p.Gln1559Lys)
|
rs1463790897
|
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NM_004187.5(KDM5C):c.569A>G (p.Tyr190Cys)
|
rs2146946968
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NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
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NM_004187.5(KDM5C):c.740G>A (p.Gly247Asp)
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NM_004187.5(KDM5C):c.936A>G (p.Leu312=)
|
rs2073725221
|
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