NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
|
|
|
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
|
|
|
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
|
|
|
NC_000001.10:g.(?_24021140)_(24022863_?)del
|
|
|
NC_000001.10:g.(?_93297672)_(93307422_?)del
|
|
|
NC_000001.11:g.(?_23691814)_(23696383_?)del
|
|
|
NC_000001.11:g.(?_23691824)_(23696373_?)del
|
|
|
NC_000001.11:g.(?_23695788)_(23696383_?)del
|
|
|
NC_000001.11:g.(?_92832109)_(92833666_?)del
|
|
|
NC_000003.12:g.(?_197950958)_(197955783_?)del
|
|
|
NC_000003.12:g.(?_197950962)_(197955779_?)del
|
|
|
NC_000010.11:g.(?_78033902)_(78033914_?)del
|
|
|
NC_000012.10:g.54711095_54731551del
|
|
|
NC_000012.11:g.(?_56396006)_(56437938_?)del
|
|
|
NC_000017.10:g.(?_8136214)_(8285628_?)del
|
|
|
NC_000017.11:g.(?_7669603)_(8382316_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42364925_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42375445_?)del
|
|
|
NC_000019.9:g.(?_42373091)_(42375455_?)del
|
|
|
NC_000023.10:g.(?_48542243)_(48652571_?)del
|
|
|
NG_009890.2:g.(5565_6559)_(8796_9460)del
|
|
|
NG_033850.2(RPL15):g.7123_9515del
|
|
|
NM_000546.6(TP53):c.1077del (p.Ser362fs)
|
rs1555524370
|
|
NM_000546.6(TP53):c.1083del (p.Ser362fs)
|
rs1555524354
|
|
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
|
|
|
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
|
rs1060503527
|
|
NM_000969.5(RPL5):c.153del (p.Met51fs)
|
rs2100677043
|
|
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
|
rs1571024385
|
|
NM_000969.5(RPL5):c.15dup (p.Val6fs)
|
rs1686990676
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
NM_000969.5(RPL5):c.173del (p.Arg58fs)
|
|
|
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
|
rs1571024430
|
|
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
|
|
|
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
|
rs1558284062
|
|
NM_000969.5(RPL5):c.1A>C (p.Met1Leu)
|
rs2100672432
|
|
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
|
|
|
NM_000969.5(RPL5):c.222dup (p.Val75fs)
|
|
|
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)
|
|
|
NM_000969.5(RPL5):c.235dup (p.Tyr79fs)
|
rs1571026775
|
|
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
|
|
|
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)
|
rs587777117
|
|
NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
|
rs1553121909
|
|
NM_000969.5(RPL5):c.268del (p.Val90fs)
|
rs1687054029
|
|
NM_000969.5(RPL5):c.26del (p.Asn9fs)
|
|
|
NM_000969.5(RPL5):c.272del (p.Gly91fs)
|
|
|
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
|
|
|
NM_000969.5(RPL5):c.3+1G>A
|
|
|
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)
|
|
|
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)
|
|
|
NM_000969.5(RPL5):c.4-7_4-4del
|
rs1558283792
|
|
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)
|
|
|
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter)
|
rs1687123286
|
|
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
|
|
|
NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)
|
|
|
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
|
rs148673599
|
|
NM_000969.5(RPL5):c.500dup (p.Asp168fs)
|
rs2100685034
|
|
NM_000969.5(RPL5):c.608dup (p.Asn203fs)
|
rs2100688383
|
|
NM_000969.5(RPL5):c.60del (p.Phe20fs)
|
|
|
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
|
|
|
NM_000969.5(RPL5):c.634dup (p.Met212fs)
|
rs1687178005
|
|
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)
|
rs587777118
|
|
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
|
rs121434405
|
|
NM_000969.5(RPL5):c.692dup (p.Thr232fs)
|
rs1571032029
|
|
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
|
rs1558283853
|
|
NM_000969.5(RPL5):c.71del (p.Arg24fs)
|
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
|
|
NM_000969.5(RPL5):c.73+2T>G
|
rs142156224
|
|
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)
|
|
|
NM_000969.5(RPL5):c.83del (p.Thr28fs)
|
|
|
NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)
|
|
|
NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
|
rs1686990557
|
|
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
|
|
|
NM_000975.5(RPL11):c.102dup (p.Arg35fs)
|
|
|
NM_000975.5(RPL11):c.107del (p.Ala36fs)
|
rs2124429127
|
|
NM_000975.5(RPL11):c.111del (p.Lys38fs)
|
rs1553121684
|
|
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)
|
rs2124429140
|
|
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
|
|
|
NM_000975.5(RPL11):c.151dup (p.Ser51fs)
|
rs2124429183
|
|
NM_000975.5(RPL11):c.158-1G>A
|
rs151155897
|
|
NM_000975.5(RPL11):c.158-1G>C
|
|
|
NM_000975.5(RPL11):c.158-2A>C
|
|
|
NM_000975.5(RPL11):c.160dup (p.Arg54fs)
|
rs1644516691
|
|
NM_000975.5(RPL11):c.204del (p.Ile68fs)
|
rs587777120
|
|
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
|
rs121434389
|
|
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
|
|
|
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
|
|
|
NM_000975.5(RPL11):c.311del (p.Asn104fs)
|
|
|
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
|
|
|
NM_000975.5(RPL11):c.33del (p.Met12fs)
|
|
|
NM_000975.5(RPL11):c.43_49del (p.Leu15fs)
|
rs1553121678
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_000975.5(RPL11):c.476_477del (p.Lys159fs)
|
rs587777119
|
|
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del)
|
rs1570569083
|
|
NM_000975.5(RPL11):c.508-2A>G
|
rs1570569383
|
|
NM_000975.5(RPL11):c.6+2T>C
|
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
|
rs1570566592
|
|
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
|
|
|
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)
|
|
|
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
|
|
|
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)
|
rs1568425218
|
|
NM_000987.5(RPL26):c.120_121del (p.Lys41fs)
|
rs397518451
|
|
NM_000988.5(RPL27):c.-2-1G>A
|
rs1085307119
|
|
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)
|
rs1560120302
|
|
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
|
|
|
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)
|
rs1553811551
|
|
NM_000996.4(RPL35A):c.258del (p.Lys87fs)
|
rs1581106084
|
|
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)
|
rs116840809
|
|
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)
|
rs116840807
|
|
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)
|
rs116840808
|
|
NM_001011.4(RPS7):c.-19+1G>A
|
rs1064796859
|
|
NM_001011.4(RPS7):c.-19+1G>T
|
|
|
NM_001011.4(RPS7):c.-19+2T>A
|
|
|
NM_001011.4(RPS7):c.147+1G>A
|
rs397507554
|
|
NM_001011.4(RPS7):c.65_75+2delinsCTGG
|
|
|
NM_001011.4(RPS7):c.75+1G>A
|
rs1661257691
|
|
NM_001011.4(RPS7):c.76-1G>T
|
rs1057519624
|
|
NM_001014.5(RPS10):c.1A>G (p.Met1Val)
|
rs2113806114
|
|
NM_001014.5(RPS10):c.260dup (p.Glu88fs)
|
rs1581931541
|
|
NM_001014.5(RPS10):c.268_275del (p.Val90fs)
|
|
|
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
|
rs1581931439
|
|
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
|
rs267607022
|
|
NM_001014.5(RPS10):c.3G>A (p.Met1Ile)
|
rs267607021
|
|
NM_001019.5(RPS15A):c.213G>A (p.Lys71=)
|
rs1567287990
|
|
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)
|
rs6991
|
|
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
|
|
|
NM_001021.6(RPS17):c.201_202del (p.Gly68fs)
|
rs116840812
|
|
NM_001021.6(RPS17):c.2T>G (p.Met1Arg)
|
rs116840811
|
|
NM_001021.6(RPS17):c.60del (p.Tyr21fs)
|
|
|
NM_001022.3(RPS19):c.1-231_173-3418del
|
|
|
NM_001022.3(RPS19):c.[43G>T;164C>T]
|
|
|
NM_001022.4(RPS19):c.101del (p.Val34fs)
|
|
|
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
|
rs149420497
|
|
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
|
|
|
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
|
|
|
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
|
rs2074020491
|
|
NM_001022.4(RPS19):c.173-1G>T
|
rs2123283622
|
|
NM_001022.4(RPS19):c.173-2A>G
|
rs111833764
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
|
|
|
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
|
|
|
NM_001022.4(RPS19):c.21del (p.Asp8fs)
|
|
|
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)
|
rs121908649
|
|
NM_001022.4(RPS19):c.257dup (p.Val87fs)
|
rs2074118749
|
|
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)
|
rs61762293
|
|
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
|
|
|
NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs)
|
rs2074119405
|
|
NM_001022.4(RPS19):c.296_297del (p.Val99fs)
|
rs1555841356
|
|
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
|
rs1555841356
|
|
NM_001022.4(RPS19):c.307del (p.Val103fs)
|
rs786200935
|
|
NM_001022.4(RPS19):c.316del (p.Ala106fs)
|
|
|
NM_001022.4(RPS19):c.347del (p.Asp116fs)
|
|
|
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
|
|
|
NM_001022.4(RPS19):c.357-2A>G
|
|
|
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer)
|
rs1568796003
|
|
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
|
|
|
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
|
rs786200936
|
|
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
|
rs869066130
|
|
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
|
|
|
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
|
|
|
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.403_404del (p.Ala135fs)
|
rs2123285949
|
|
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
|
rs144337183
|
|
NM_001022.4(RPS19):c.412-2A>G
|
|
|
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
|
|
|
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
|
rs2074021310
|
|
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
|
rs2123256254
|
|
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
|
|
|
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
|
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)
|
rs2074026880
|
|
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
|
|
|
NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)
|
rs1809815205
|
|
NM_001023.4(RPS20):c.251T>G (p.Ile84Ser)
|
rs1809815205
|
|
NM_001029.5(RPS26):c.181+1del
|
rs1895903499
|
|
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)
|
rs1895918140
|
|
NM_001029.5(RPS26):c.1A>G (p.Met1Val)
|
rs143951267
|
|
NM_001029.5(RPS26):c.1A>T (p.Met1Leu)
|
rs143951267
|
|
NM_001029.5(RPS26):c.224_225del (p.Val75fs)
|
rs1555208596
|
|
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
|
rs148942765
|
|
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
|
|
|
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)
|
rs1895894261
|
|
NM_001029.5(RPS26):c.3+1G>A
|
rs148622862
|
|
NM_001029.5(RPS26):c.3+1G>T
|
|
|
NM_001029.5(RPS26):c.31dup (p.Ala11fs)
|
rs786200892
|
|
NM_001029.5(RPS26):c.4-2A>T
|
rs786203998
|
|
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)
|
rs797045919
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
|
|
|
NM_001029.5(RPS26):c.88del (p.Val30fs)
|
|
|
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)
|
rs267607023
|
|
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)
|
rs2136753785
|
|
NM_001030.6(RPS27):c.90del (p.Tyr31fs)
|
rs1085307115
|
|
NM_001031.5(RPS28):c.1A>G (p.Met1Val)
|
rs786203997
|
|
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)
|
rs587777569
|
|
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)
|
rs587777568
|
|
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
|
|
|
NM_002049.4(GATA1):c.105dup (p.Ser36fs)
|
rs1273620943
|
|
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
|
|
|
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
|
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)
|
rs2147305695
|
|
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)
|
rs1602219139
|
|
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
|
|
|
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)
|
rs2147305721
|
|
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
|
|
|
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
|
|
|
NM_002049.4(GATA1):c.192_196del (p.Arg64fs)
|
rs2147305736
|
|
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
|
|
|
NM_002049.4(GATA1):c.21del (p.Ser8fs)
|
rs1557020001
|
|
NM_002049.4(GATA1):c.220+1G>T
|
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)
|
rs2147305526
|
|
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)
|
rs2062673523
|
|
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs)
|
rs1602218917
|
|
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
|
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002049.4(GATA1):c.90_91del (p.Val32fs)
|
rs2147305615
|
|
NM_002049.4(GATA1):c.94dup (p.Val32fs)
|
rs1569499310
|
|
NM_002049.4(GATA1):c.98dup (p.Phe34fs)
|
rs2062673787
|
|
NM_002948.5(RPL15):c.130del (p.Arg44fs)
|
|
|
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
|
|
|
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
|
|
|
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
|
|
|
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
|
|
|
NM_007055.3(POLR3A):c.-6128_-995del
|
|
|
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)
|
rs1564307664
|
|
NM_033022.4(RPS24):c.13_14del (p.Val5fs)
|
rs1589326484
|
|
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)
|
rs1554841994
|
|
NM_033022.4(RPS24):c.1A>G (p.Met1Val)
|
rs886039545
|
|
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
|
|
|
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)
|
|
|
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)
|
rs104894188
|
|
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
|
rs104894189
|
|
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)
|
rs116840806
|
|
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)
|
|
|
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)
|
rs786203996
|
|
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)
|
rs2150610519
|
|
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)
|
rs917466219
|
|
NM_182922.4(HEATR3):c.399+1G>T
|
rs2150594383
|
|
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)
|
rs1184398890
|
|
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)
|
rs2150600578
|
|
RPL5, 5-BP DEL/39-BP INS, NT498
|
|
|