NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
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NC_000009.11:g.(?_140605399)_(140652483_?)dup
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NC_000009.11:g.(?_140605409)_(140605492_?)dup
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NC_000009.11:g.(?_140657107)_(140685442_?)dup
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NC_000009.12:g.(?_137743351)_(137744110_?)dup
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NC_000009.12:g.(?_137790828)_(137790990_?)del
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NC_000009.12:g.(?_137790828)_(137818158_?)del
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NC_000009.12:g.137661384_137714409del
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NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
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rs387907228
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NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)
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rs1588481921
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NM_024757.5(EHMT1):c.1170+2T>C
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NM_024757.5(EHMT1):c.1180del (p.Glu394fs)
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NM_024757.5(EHMT1):c.1249-2A>G
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NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter)
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rs1949206105
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NM_024757.5(EHMT1):c.1370-1G>C
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NM_024757.5(EHMT1):c.13_21+153del
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rs1564509503
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NM_024757.5(EHMT1):c.1919_1923dup (p.Ile642Ter)
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NM_024757.5(EHMT1):c.21+1_21+5del
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rs1842769868
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NM_024757.5(EHMT1):c.2382+1G>A
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rs2136894487
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NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
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rs587780332
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NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)
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rs1554888939
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NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr)
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NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr)
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rs1953188177
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NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val)
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NM_024757.5(EHMT1):c.3180+1G>A
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NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr)
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NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)
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rs368087892
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NM_024757.5(EHMT1):c.3259-1G>A
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rs1554897763
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NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)
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rs886041093
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NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg)
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NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly)
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rs1954891050
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NM_024757.5(EHMT1):c.3345_3361del (p.Cys1115_Gln1121delinsTer)
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NM_024757.5(EHMT1):c.3461+1G>C
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NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)
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rs121918301
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NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu)
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rs1956451830
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NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)
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rs1554908290
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NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
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rs137852727
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NM_024757.5(EHMT1):c.3610del (p.Glu1204fs)
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NM_024757.5(EHMT1):c.3627_3633dup (p.Val1212fs)
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rs1956455734
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NM_024757.5(EHMT1):c.3688dup (p.Arg1230fs)
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rs2133154359
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NM_024757.5(EHMT1):c.50_85+60del
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rs2135388757
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NM_024757.5(EHMT1):c.643-1G>A
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NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)
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rs879255531
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NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)
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rs1474604202
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NM_024757.5(EHMT1):c.756dup (p.Phe253fs)
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rs1554852664
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NM_024757.5(EHMT1):c.824-2del
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rs1234654104
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NM_024757.5(EHMT1):c.870dup (p.Arg291fs)
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rs1948278092
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NM_170606.3(KMT2C):c.10300dup (p.His3434fs)
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NM_170606.3(KMT2C):c.11269_11270del (p.Gln3757fs)
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NM_170606.3(KMT2C):c.11812+2T>C
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rs2129099779
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NM_170606.3(KMT2C):c.12666+1G>A
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NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)
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rs144905657
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NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)
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rs2091357682
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NM_170606.3(KMT2C):c.13894+2T>G
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NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)
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rs1554580083
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NM_170606.3(KMT2C):c.2483del (p.Pro828fs)
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NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
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rs58528565
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NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter)
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rs2129145649
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NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu)
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rs2129145634
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NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del)
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rs1588119681
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NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)
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rs587777073
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NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs)
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rs2129128809
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NM_170606.3(KMT2C):c.5088dup (p.Ala1697fs)
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rs2093489078
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NM_170606.3(KMT2C):c.5937del (p.Lys1980fs)
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NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)
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NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter)
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rs2129119384
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NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)
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NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)
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rs779659766
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NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs)
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rs1554496813
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NM_170606.3(KMT2C):c.9262+1G>A
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Single allele
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