NM_001429.4(EP300):c.2989A>G (p.Ile997Val)
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rs20551
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0.22427
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NM_001429.4(EP300):c.2998-12G>A
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rs115849119
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0.00836
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NM_001429.4(EP300):c.2998-14dup
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rs560058125
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0.00083
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NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
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rs150498069
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0.00048
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NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
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rs142431552
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0.00043
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NM_001429.4(EP300):c.2916T>C (p.Pro972=)
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rs142769483
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0.00014
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NM_001429.4(EP300):c.2925A>G (p.Glu975=)
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rs75752076
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0.00010
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NM_001429.4(EP300):c.2975C>A (p.Thr992Asn)
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rs760974878
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0.00001
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NM_001429.4(EP300):c.2997+12G>A
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rs372770495
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0.00001
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NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
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NM_001429.4(EP300):c.2818-18C>T
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NM_001429.4(EP300):c.2818-19C>A
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NM_001429.4(EP300):c.2818-20T>G
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NM_001429.4(EP300):c.2818-5C>T
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NM_001429.4(EP300):c.2818-8C>G
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NM_001429.4(EP300):c.2829A>G (p.Pro943=)
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NM_001429.4(EP300):c.2838C>G (p.Ser946Arg)
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rs2059047440
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NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
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NM_001429.4(EP300):c.2868T>C (p.Ser956=)
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NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)
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NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)
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NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)
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rs1308182502
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NM_001429.4(EP300):c.2877_2884del (p.Thr960fs)
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rs1569108381
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NM_001429.4(EP300):c.2889T>C (p.Asn963=)
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NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
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NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
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NM_001429.4(EP300):c.2898C>T (p.Ala966=)
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NM_001429.4(EP300):c.2913G>C (p.Gln971His)
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NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
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NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
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NM_001429.4(EP300):c.2940C>T (p.Ala980=)
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NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
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NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
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NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
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NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
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NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
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NM_001429.4(EP300):c.2982G>A (p.Pro994=)
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NM_001429.4(EP300):c.2983G>T (p.Glu995Ter)
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rs1555909666
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NM_001429.4(EP300):c.2997+10G>A
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NM_001429.4(EP300):c.2997+14A>G
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NM_001429.4(EP300):c.2998-13C>T
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NM_001429.4(EP300):c.2998-13del
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NM_001429.4(EP300):c.2998-3_2998-2del
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rs2145740556
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NM_001429.4(EP300):c.2998-3del
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rs528974321
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NM_001429.4(EP300):c.3030C>G (p.Thr1010=)
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rs148414681
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NM_001429.4(EP300):c.3030C>T (p.Thr1010=)
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rs148414681
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NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln)
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rs775368605
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NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
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NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)
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rs2059050708
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NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)
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rs1555909697
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NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
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NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
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NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr)
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rs2145741097
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NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
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NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs)
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rs2059051273
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NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
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NM_001429.4(EP300):c.3142+17A>T
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NM_001429.4(EP300):c.3142+20C>T
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NM_001429.4(EP300):c.3142+8T>C
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