NM_017635.5(KMT5B):c.1619G>A (p.Arg540Gln)
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rs565603169
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0.00014
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NM_017635.5(KMT5B):c.1538C>T (p.Ala513Val)
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rs377163167
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0.00002
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NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln)
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rs367596003
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0.00001
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NM_017635.5(KMT5B):c.1690T>C (p.Tyr564His)
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rs1238524382
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0.00001
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NM_017635.5(KMT5B):c.1174+1575C>G
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NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
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NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr)
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rs2153041082
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NM_017635.5(KMT5B):c.1411G>T (p.Glu471Ter)
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NM_017635.5(KMT5B):c.1530_1534del (p.His512fs)
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rs2153040748
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NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs)
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rs1555023232
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NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)
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NM_017635.5(KMT5B):c.1823del (p.Gly608fs)
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NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)
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NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)
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NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)
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rs2153040244
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NM_017635.5(KMT5B):c.219del (p.Ala74fs)
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rs1565240833
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NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
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NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser)
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rs2153039971
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NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)
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rs2153039957
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NM_017635.5(KMT5B):c.2435G>C (p.Arg812Pro)
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NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)
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NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del)
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rs761209606
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NM_017635.5(KMT5B):c.255del (p.Ser86fs)
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rs1555034768
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NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn)
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rs2153068007
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NM_017635.5(KMT5B):c.309-5_309-2del
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rs779089106
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NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter)
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rs1856779339
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NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)
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rs1856229182
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NM_017635.5(KMT5B):c.541C>G (p.His181Asp)
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rs2153055850
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NM_017635.5(KMT5B):c.544-19dup
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rs3832715
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NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)
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NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
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rs114727354
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NM_017635.5(KMT5B):c.668_672del (p.Lys223fs)
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rs1590956245
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NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
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NM_017635.5(KMT5B):c.725del (p.Leu242fs)
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rs1555028154
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NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)
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rs2153052371
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NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)
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rs1555028104
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NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile)
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rs2153052073
|
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NM_017635.5(KMT5B):c.840+1_840+5del
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rs2153052061
|
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NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter)
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rs1590954686
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NM_017635.5(KMT5B):c.857G>A (p.Arg286Gln)
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NM_017635.5(KMT5B):c.877G>C (p.Ala293Pro)
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NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
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NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
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NM_017635.5(KMT5B):c.923G>A (p.Gly308Glu)
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NM_017635.5(KMT5B):c.96dup (p.Gln33fs)
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NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
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