NM_000969.5(RPL5):c.165G>A (p.Val55=)
|
rs58263806
|
0.02253
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
NM_000969.5(RPL5):c.258T>C (p.Tyr86=)
|
rs113792800
|
0.00472
|
NM_000969.5(RPL5):c.325-4A>G
|
rs183825489
|
0.00267
|
NM_000969.5(RPL5):c.*47T>C
|
rs72968037
|
0.00213
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
NM_000969.5(RPL5):c.*1A>G
|
rs11540833
|
0.00126
|
NM_000969.5(RPL5):c.189+267G>C
|
rs138979590
|
0.00053
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
NM_000969.5(RPL5):c.324+14G>T
|
rs200772479
|
0.00030
|
NM_000969.5(RPL5):c.408T>C (p.Asp136=)
|
rs142297836
|
0.00024
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_000969.5(RPL5):c.691G>A (p.Val231Ile)
|
rs568863745
|
0.00006
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
NM_000969.5(RPL5):c.781G>C (p.Val261Leu)
|
rs773839391
|
0.00004
|
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
|
rs775952185
|
0.00003
|
NM_000969.5(RPL5):c.320G>A (p.Arg107His)
|
rs751845365
|
0.00003
|
NM_000969.5(RPL5):c.517A>G (p.Ile173Val)
|
rs754245145
|
0.00003
|
NM_000969.5(RPL5):c.599T>C (p.Met200Thr)
|
rs773325598
|
0.00003
|
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys)
|
rs772575122
|
0.00002
|
NM_000969.5(RPL5):c.156A>C (p.Ile52=)
|
rs753968704
|
0.00002
|
NM_000969.5(RPL5):c.324+12A>T
|
rs781444582
|
0.00002
|
NM_000969.5(RPL5):c.519C>T (p.Ile173=)
|
rs755317830
|
0.00002
|
NM_000969.5(RPL5):c.690C>T (p.Ser230=)
|
rs766117227
|
0.00002
|
NM_000969.5(RPL5):c.794+8G>A
|
rs907325546
|
0.00002
|
NM_000969.5(RPL5):c.18T>A (p.Val6=)
|
rs768965548
|
0.00001
|
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys)
|
rs750383596
|
0.00001
|
NM_000969.5(RPL5):c.204T>A (p.Arg68=)
|
rs1031900489
|
0.00001
|
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
|
rs752867126
|
0.00001
|
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)
|
rs1043234543
|
0.00001
|
NM_000969.5(RPL5):c.266A>G (p.Lys89Arg)
|
rs1314815534
|
0.00001
|
NM_000969.5(RPL5):c.307C>T (p.Leu103=)
|
rs574546327
|
0.00001
|
NM_000969.5(RPL5):c.309G>T (p.Leu103=)
|
rs760490644
|
0.00001
|
NM_000969.5(RPL5):c.381T>A (p.Gly127=)
|
rs1251386648
|
0.00001
|
NM_000969.5(RPL5):c.384T>C (p.Asp128=)
|
rs749814264
|
0.00001
|
NM_000969.5(RPL5):c.4-4T>C
|
rs746944177
|
0.00001
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
NM_000969.5(RPL5):c.527+10C>T
|
rs779348774
|
0.00001
|
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)
|
rs771013653
|
0.00001
|
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu)
|
rs776644546
|
0.00001
|
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)
|
rs770095159
|
0.00001
|
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
|
rs764296257
|
0.00001
|
NM_000969.5(RPL5):c.657C>T (p.Tyr219=)
|
rs1481353859
|
0.00001
|
NM_000969.5(RPL5):c.666G>C (p.Gln222His)
|
rs767163981
|
0.00001
|
NM_000969.5(RPL5):c.795-9C>A
|
rs748765097
|
0.00001
|
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
|
rs765443248
|
0.00001
|
NM_000969.5(RPL5):c.846A>G (p.Gln282=)
|
rs376641112
|
0.00001
|
NC_000001.10:g.(?_93306098)_(93307422_?)dup
|
|
|
NC_000001.11:g.(?_92832109)_(92833666_?)del
|
|
|
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
|
|
|
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)
|
rs1553285006
|
|
NM_000969.5(RPL5):c.122_144del (p.Lys41fs)
|
rs2100676969
|
|
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
|
rs1060503527
|
|
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
|
|
|
NM_000969.5(RPL5):c.153del (p.Met51fs)
|
rs2100677043
|
|
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)
|
rs2100677045
|
|
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
|
rs1571024385
|
|
NM_000969.5(RPL5):c.15dup (p.Val6fs)
|
rs1686990676
|
|
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)
|
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser)
|
rs1553285028
|
|
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.179T>C (p.Ile60Thr)
|
|
|
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
|
rs1558284062
|
|
NM_000969.5(RPL5):c.189+1G>C
|
|
|
NM_000969.5(RPL5):c.189+20G>A
|
|
|
NM_000969.5(RPL5):c.189+2T>G
|
rs1687004626
|
|
NM_000969.5(RPL5):c.189+5G>A
|
|
|
NM_000969.5(RPL5):c.190-10C>T
|
|
|
NM_000969.5(RPL5):c.190-18G>C
|
|
|
NM_000969.5(RPL5):c.190-18G>T
|
|
|
NM_000969.5(RPL5):c.190-3T>C
|
|
|
NM_000969.5(RPL5):c.190-6C>A
|
|
|
NM_000969.5(RPL5):c.190-7_190-2del
|
rs1064796479
|
|
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
|
|
|
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
|
|
|
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
|
|
|
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
|
|
|
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
|
|
|
NM_000969.5(RPL5):c.222dup (p.Val75fs)
|
|
|
NM_000969.5(RPL5):c.225C>G (p.Val75=)
|
rs2100680579
|
|
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)
|
|
|
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
|
|
|
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
|
|
|
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
|
|
|
NM_000969.5(RPL5):c.235dup (p.Tyr79fs)
|
rs1571026775
|
|
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
|
|
|
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
|
|
|
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys)
|
rs587777117
|
|
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)
|
rs587777117
|
|
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg)
|
rs970129317
|
|
NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
|
rs1553121909
|
|
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
|
|
|
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.294A>G (p.Ala98=)
|
|
|
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly)
|
rs2100680814
|
|
NM_000969.5(RPL5):c.310C>T (p.Leu104=)
|
rs766476007
|
|
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr)
|
rs1687056401
|
|
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
|
|
|
NM_000969.5(RPL5):c.324+8C>A
|
|
|
NM_000969.5(RPL5):c.325-14G>A
|
|
|
NM_000969.5(RPL5):c.325-16T>C
|
rs1687116560
|
|
NM_000969.5(RPL5):c.325-17A>G
|
rs2100684491
|
|
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)
|
rs878854146
|
|
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
|
|
|
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
|
|
|
NM_000969.5(RPL5):c.344T>C (p.Met115Thr)
|
rs1687118423
|
|
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys)
|
rs1686991615
|
|
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
|
|
|
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
|
|
|
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)
|
|
|
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
|
|
|
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
|
|
|
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
|
|
|
NM_000969.5(RPL5):c.4-10T>A
|
rs1686989669
|
|
NM_000969.5(RPL5):c.4-10T>C
|
rs1686989669
|
|
NM_000969.5(RPL5):c.4-17A>T
|
|
|
NM_000969.5(RPL5):c.4-1G>A
|
|
|
NM_000969.5(RPL5):c.4-7C>T
|
|
|
NM_000969.5(RPL5):c.4-7_4-4del
|
rs1558283792
|
|
NM_000969.5(RPL5):c.4-7del
|
rs1291987734
|
|
NM_000969.5(RPL5):c.4-9T>C
|
|
|
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
|
rs1687120549
|
|
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr)
|
rs771599532
|
|
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)
|
|
|
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
|
|
|
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp)
|
rs367631074
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
|
|
|
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
|
|
|
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
|
|
|
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter)
|
rs1687123286
|
|
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
|
|
|
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.509del (p.Gly170fs)
|
|
|
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
|
|
|
NM_000969.5(RPL5):c.527+14_527+17dup
|
|
|
NM_000969.5(RPL5):c.527+1G>T
|
rs2100685111
|
|
NM_000969.5(RPL5):c.527+20C>T
|
|
|
NM_000969.5(RPL5):c.527+7A>T
|
|
|
NM_000969.5(RPL5):c.527+7_527+19del
|
rs2100685123
|
|
NM_000969.5(RPL5):c.528-17G>A
|
|
|
NM_000969.5(RPL5):c.528-1G>A
|
|
|
NM_000969.5(RPL5):c.528-20T>C
|
|
|
NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
|
|
|
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
|
|
|
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
|
|
|
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
|
|
|
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
|
|
|
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
|
|
|
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
|
|
|
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
|
|
|
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
|
|
|
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
|
|
|
NM_000969.5(RPL5):c.608dup (p.Asn203fs)
|
rs2100688383
|
|
NM_000969.5(RPL5):c.60del (p.Phe20fs)
|
|
|
NM_000969.5(RPL5):c.611T>C (p.Val204Ala)
|
rs1687176905
|
|
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
|
rs1571031819
|
|
NM_000969.5(RPL5):c.613dup (p.Ala205fs)
|
rs2100688414
|
|
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
|
|
|
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
|
|
|
NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
|
|
|
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
|
|
|
NM_000969.5(RPL5):c.634dup (p.Met212fs)
|
rs1687178005
|
|
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
|
|
|
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)
|
rs587777118
|
|
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro)
|
rs1687179289
|
|
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
|
rs121434405
|
|
NM_000969.5(RPL5):c.692dup (p.Thr232fs)
|
rs1571032029
|
|
NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
|
|
|
NM_000969.5(RPL5):c.6G>A (p.Gly2=)
|
|
|
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr)
|
rs938367538
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000969.5(RPL5):c.703A>G (p.Met235Val)
|
|
|
NM_000969.5(RPL5):c.705+14C>T
|
rs2100688720
|
|
NM_000969.5(RPL5):c.705+4A>G
|
|
|
NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
|
|
|
NM_000969.5(RPL5):c.706-10T>C
|
|
|
NM_000969.5(RPL5):c.706-13T>A
|
|
|
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
|
rs1558283853
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
|
|
NM_000969.5(RPL5):c.718T>C (p.Tyr240His)
|
rs2100696942
|
|
NM_000969.5(RPL5):c.71del (p.Arg24fs)
|
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
|
|
NM_000969.5(RPL5):c.73+10C>T
|
|
|
NM_000969.5(RPL5):c.73+2T>G
|
rs142156224
|
|
NM_000969.5(RPL5):c.73+9dup
|
|
|
NM_000969.5(RPL5):c.74-15_74-13del
|
rs2100676802
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_000969.5(RPL5):c.74-2A>G
|
rs2100676852
|
|
NM_000969.5(RPL5):c.74-2del
|
|
|
NM_000969.5(RPL5):c.74-7C>T
|
|
|
NM_000969.5(RPL5):c.74-8dup
|
|
|
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)
|
|
|
NM_000969.5(RPL5):c.744A>G (p.Arg248=)
|
|
|
NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
|
|
|
NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del)
|
rs1571038275
|
|
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
|
|
|
NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
|
|
|
NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
|
|
|
NM_000969.5(RPL5):c.78T>G (p.Gly26=)
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NM_000969.5(RPL5):c.794+10_794+12del
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rs1557444104
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NM_000969.5(RPL5):c.794+16_794+19del
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rs747509136
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NM_000969.5(RPL5):c.794+17_794+19del
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rs747509136
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NM_000969.5(RPL5):c.794+19dup
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rs747509136
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NM_000969.5(RPL5):c.795-14C>A
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NM_000969.5(RPL5):c.795-14C>G
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NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
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NM_000969.5(RPL5):c.832G>A (p.Asp278Asn)
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rs764283613
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NM_000969.5(RPL5):c.838G>A (p.Val280Ile)
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rs1687377449
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NM_000969.5(RPL5):c.83del (p.Thr28fs)
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NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
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NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
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NM_000969.5(RPL5):c.858C>T (p.Ser286=)
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NM_000969.5(RPL5):c.868G>A (p.Ala290Thr)
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rs1060503545
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NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
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NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
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NM_000969.5(RPL5):c.890_893dup (p.Ter298=)
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rs1687379541
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NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
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NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)
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NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
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rs1686990557
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NM_000969.5(RPL5):c.[189+267G>C;189+288A>G;189+309A>G;189+364G>A;189+387A>T]
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