NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
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rs104894809
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0.00001
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NC_000001.10:g.(?_24021140)_(24022863_?)del
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NC_000001.10:g.(?_93297672)_(93307422_?)del
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NC_000001.11:g.(?_23691814)_(23696383_?)del
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NC_000001.11:g.(?_23691824)_(23696373_?)del
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NC_000001.11:g.(?_23695788)_(23696383_?)del
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NC_000001.11:g.(?_92832109)_(92833666_?)del
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NC_000010.11:g.(?_78033902)_(78033914_?)del
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NC_000017.10:g.(?_8136214)_(8285628_?)del
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NC_000017.11:g.(?_7669603)_(8382316_?)del
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NC_000019.9:g.(?_42363988)_(42364925_?)del
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NC_000019.9:g.(?_42363988)_(42375445_?)del
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NC_000019.9:g.(?_42373091)_(42375455_?)del
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NC_000023.10:g.(?_48542243)_(48652571_?)del
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NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
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NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
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rs1060503527
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NM_000969.5(RPL5):c.153del (p.Met51fs)
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rs2100677043
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NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
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rs1571024385
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NM_000969.5(RPL5):c.15dup (p.Val6fs)
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rs1686990676
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NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
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rs1558284033
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NM_000969.5(RPL5):c.173del (p.Arg58fs)
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NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
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rs1571024430
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NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
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rs1558284062
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NM_000969.5(RPL5):c.1A>C (p.Met1Leu)
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rs2100672432
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NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
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NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
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rs1553121909
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NM_000969.5(RPL5):c.272del (p.Gly91fs)
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NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
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NM_000969.5(RPL5):c.4-7_4-4del
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rs1558283792
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NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
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NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
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rs148673599
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NM_000969.5(RPL5):c.500dup (p.Asp168fs)
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rs2100685034
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NM_000969.5(RPL5):c.608dup (p.Asn203fs)
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rs2100688383
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NM_000969.5(RPL5):c.634dup (p.Met212fs)
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rs1687178005
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NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
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rs121434405
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NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
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rs1558283853
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NM_000969.5(RPL5):c.71del (p.Arg24fs)
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NM_000969.5(RPL5):c.72A>G (p.Arg24=)
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NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
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rs1686990557
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NM_000975.5(RPL11):c.100dup (p.Thr34fs)
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NM_000975.5(RPL11):c.107del (p.Ala36fs)
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rs2124429127
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NM_000975.5(RPL11):c.111del (p.Lys38fs)
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rs1553121684
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NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)
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rs2124429140
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NM_000975.5(RPL11):c.151dup (p.Ser51fs)
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rs2124429183
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NM_000975.5(RPL11):c.158-1G>A
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rs151155897
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NM_000975.5(RPL11):c.160dup (p.Arg54fs)
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rs1644516691
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NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
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rs121434389
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NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
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NM_000975.5(RPL11):c.311del (p.Asn104fs)
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NM_000975.5(RPL11):c.508-2A>G
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rs1570569383
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NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
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rs1570566590
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NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
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rs1570566592
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NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
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NM_001014.5(RPS10):c.1A>G (p.Met1Val)
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rs2113806114
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NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
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rs1581931439
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NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
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rs267607022
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NM_001022.4(RPS19):c.101del (p.Val34fs)
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NM_001022.4(RPS19):c.13dup (p.Thr5fs)
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rs149420497
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NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
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NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
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rs2074020491
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NM_001022.4(RPS19):c.173-1G>T
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rs2123283622
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NM_001022.4(RPS19):c.173-2A>G
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rs111833764
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NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
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rs104894711
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NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
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rs1555841301
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NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)
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rs1555841301
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NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
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NM_001022.4(RPS19):c.257dup (p.Val87fs)
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rs2074118749
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NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
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rs1555841356
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NM_001022.4(RPS19):c.347del (p.Asp116fs)
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NM_001022.4(RPS19):c.357-2A>G
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NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
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rs869066130
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NM_001022.4(RPS19):c.385dup (p.Arg129fs)
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NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
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rs138938035
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NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
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rs138938035
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NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
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rs144337183
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NM_001022.4(RPS19):c.412-2A>G
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NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
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rs2074021310
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NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
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rs2123256254
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NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
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NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
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rs104894716
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NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)
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rs2074026880
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NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
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NM_002049.4(GATA1):c.105dup (p.Ser36fs)
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rs1273620943
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NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
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NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
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NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
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rs398124628
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NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
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NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)
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rs2147305695
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NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
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NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)
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rs1602219139
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NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
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NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)
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rs2147305721
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NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
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NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
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|
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NM_002049.4(GATA1):c.192_196del (p.Arg64fs)
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rs2147305736
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NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
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NM_002049.4(GATA1):c.21del (p.Ser8fs)
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rs1557020001
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NM_002049.4(GATA1):c.220+1G>T
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|
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NM_002049.4(GATA1):c.220+1del
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rs587776453
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NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
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rs587776452
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NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
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rs2147306077
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NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
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rs587776451
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NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
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rs2062673416
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NM_002049.4(GATA1):c.3G>T (p.Met1Ile)
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rs2147305526
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NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)
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rs2062673523
|
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NM_002049.4(GATA1):c.5_8dup (p.Phe3fs)
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rs1602218917
|
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NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
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|
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NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
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rs1557020021
|
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NM_002049.4(GATA1):c.90_91del (p.Val32fs)
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rs2147305615
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NM_002049.4(GATA1):c.94dup (p.Val32fs)
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rs1569499310
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NM_002049.4(GATA1):c.98dup (p.Phe34fs)
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rs2062673787
|
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NM_033022.4(RPS24):c.13_14del (p.Val5fs)
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rs1589326484
|
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NM_033022.4(RPS24):c.1A>G (p.Met1Val)
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rs886039545
|
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NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
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|
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NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
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rs104894189
|
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