NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
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rs121434406
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0.00008
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NC_000012.10:g.54711095_54731551del
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NG_009890.2:g.(5565_6559)_(8796_9460)del
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NG_033850.2(RPL15):g.7123_9515del
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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.235dup (p.Tyr79fs)
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rs1571026775
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NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)
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rs587777117
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NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)
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rs587777118
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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.73+2T>G
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rs142156224
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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.204del (p.Ile68fs)
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rs587777120
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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.476_477del (p.Lys159fs)
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rs587777119
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NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del)
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rs1570569083
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NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
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rs1570566590
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NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)
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rs1568425218
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NM_000987.5(RPL26):c.120_121del (p.Lys41fs)
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rs397518451
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NM_000988.5(RPL27):c.-2-1G>A
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rs1085307119
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NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)
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rs116840809
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NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)
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rs116840807
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NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)
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rs116840808
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NM_001011.4(RPS7):c.147+1G>A
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rs397507554
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NM_001011.4(RPS7):c.76-1G>T
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rs1057519624
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NM_001014.5(RPS10):c.260dup (p.Glu88fs)
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rs1581931541
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NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
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rs267607022
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NM_001014.5(RPS10):c.3G>A (p.Met1Ile)
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rs267607021
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NM_001019.5(RPS15A):c.213G>A (p.Lys71=)
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rs1567287990
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NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)
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rs6991
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NM_001021.6(RPS17):c.201_202del (p.Gly68fs)
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rs116840812
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NM_001021.6(RPS17):c.2T>G (p.Met1Arg)
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rs116840811
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NM_001022.3(RPS19):c.1-231_173-3418del
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NM_001022.3(RPS19):c.[43G>T;164C>T]
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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.250A>T (p.Arg84Ter)
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rs121908649
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NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)
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rs61762293
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NM_001022.4(RPS19):c.307del (p.Val103fs)
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rs786200935
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NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
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rs786200936
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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.[134_135inv;138_139dup]
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NM_001029.5(RPS26):c.1A>G (p.Met1Val)
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rs143951267
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NM_001029.5(RPS26):c.1A>T (p.Met1Leu)
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rs143951267
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NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
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rs148942765
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NM_001029.5(RPS26):c.3+1G>A
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rs148622862
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NM_001029.5(RPS26):c.31dup (p.Ala11fs)
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rs786200892
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NM_001029.5(RPS26):c.4-2A>T
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rs786203998
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NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)
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rs267607023
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NM_001030.6(RPS27):c.90del (p.Tyr31fs)
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rs1085307115
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NM_001031.5(RPS28):c.1A>G (p.Met1Val)
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rs786203997
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NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)
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rs587777569
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NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)
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rs587777568
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NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
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NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
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NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
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NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
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NM_007055.3(POLR3A):c.-6128_-995del
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NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)
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rs1564307664
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NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)
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rs104894188
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NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
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rs104894189
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NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)
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rs116840806
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NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)
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rs786203996
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NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)
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rs2150610519
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NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)
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rs917466219
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NM_182922.4(HEATR3):c.399+1G>T
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rs2150594383
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NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)
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rs1184398890
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NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)
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rs2150600578
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RPL5, 5-BP DEL/39-BP INS, NT498
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