NM_001021.6(RPS17):c.159T>C (p.Tyr53=)
|
rs6991
|
0.25775
|
NM_001021.6(RPS17):c.312A>G (p.Glu104=)
|
rs1049218128
|
0.02409
|
NM_000969.5(RPL5):c.165G>A (p.Val55=)
|
rs58263806
|
0.02253
|
NM_001014.5(RPS10):c.-98T>C
|
rs113071821
|
0.01181
|
NM_001014.4(RPS10):c.-43T>G
|
rs111597547
|
0.01179
|
NM_001014.5(RPS10):c.1-18A>G
|
rs115481077
|
0.00891
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
NM_058163.3(TSR2):c.234T>C (p.Asp78=)
|
rs36032873
|
0.00445
|
NM_033022.4(RPS24):c.*11G>A
|
rs139289215
|
0.00319
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_033022.4(RPS24):c.168T>C (p.Phe56=)
|
rs57866839
|
0.00267
|
NM_001021.6(RPS17):c.328-7G>A
|
rs975130647
|
0.00215
|
NM_001014.5(RPS10):c.408C>T (p.Ala136=)
|
rs147566753
|
0.00213
|
NM_000996.4(RPL35A):c.*14C>A
|
rs10022
|
0.00200
|
NM_000975.5(RPL11):c.7-20G>T
|
rs142110379
|
0.00180
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
NM_000969.5(RPL5):c.3+13C>T
|
rs189107197
|
0.00165
|
NM_001022.4(RPS19):c.72-92A>G
|
rs566047445
|
0.00146
|
NM_001014.5(RPS10):c.231G>A (p.Gln77=)
|
rs147863199
|
0.00125
|
NM_007055.4(POLR3A):c.-35C>G
|
rs201700756
|
0.00121
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
NM_033022.4(RPS24):c.-8T>G
|
rs185722293
|
0.00101
|
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)
|
rs147128920
|
0.00081
|
NM_001022.4(RPS19):c.-10A>G
|
rs564634801
|
0.00080
|
NM_000975.5(RPL11):c.30C>T (p.Asn10=)
|
rs139286202
|
0.00076
|
NM_000981.4(RPL19):c.222G>A (p.Arg74=)
|
rs201777990
|
0.00073
|
NM_001014.5(RPS10):c.6G>A (p.Leu2=)
|
rs146246722
|
0.00063
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)
|
rs149055327
|
0.00056
|
NM_001029.5(RPS26):c.-3A>G
|
rs181174349
|
0.00056
|
NM_000987.5(RPL26):c.168+17G>A
|
rs368557278
|
0.00051
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
NM_001022.4(RPS19):c.1-14A>G
|
rs201317022
|
0.00044
|
NM_033022.3(RPS24):c.-50G>A
|
rs190989611
|
0.00043
|
NM_000996.4(RPL35A):c.165-16C>A
|
rs373782117
|
0.00041
|
NM_000969.5(RPL5):c.3+12C>T
|
rs200130961
|
0.00040
|
NM_000981.4(RPL19):c.369G>A (p.Leu123=)
|
rs370663313
|
0.00040
|
NM_033022.4(RPS24):c.378T>G (p.Gly126=)
|
rs151246531
|
0.00039
|
NM_000975.5(RPL11):c.171C>G (p.Val57=)
|
rs149087936
|
0.00035
|
NM_000969.5(RPL5):c.-62C>G
|
rs368663464
|
0.00032
|
NM_000969.5(RPL5):c.324+14G>T
|
rs200772479
|
0.00030
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
NM_001014.5(RPS10):c.444C>T (p.Thr148=)
|
rs149897629
|
0.00028
|
NM_001022.4(RPS19):c.1-13C>T
|
rs200634600
|
0.00028
|
NM_000975.5(RPL11):c.153C>T (p.Ser51=)
|
rs80133698
|
0.00025
|
NM_033022.4(RPS24):c.306C>T (p.Thr102=)
|
rs558975561
|
0.00025
|
NM_000969.5(RPL5):c.408T>C (p.Asp136=)
|
rs142297836
|
0.00024
|
NM_000975.5(RPL11):c.102G>A (p.Thr34=)
|
rs199772693
|
0.00022
|
NM_001011.4(RPS7):c.-104G>A
|
rs371620447
|
0.00022
|
NM_000975.5(RPL11):c.397-4A>G
|
rs371228733
|
0.00021
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
NM_000987.5(RPL26):c.342C>T (p.Asp114=)
|
rs137965122
|
0.00018
|
NM_033022.4(RPS24):c.90C>T (p.Pro30=)
|
rs372043585
|
0.00017
|
NM_000975.5(RPL11):c.213C>T (p.His71=)
|
rs562572818
|
0.00016
|
NM_033022.4(RPS24):c.235C>T (p.Leu79=)
|
rs192994060
|
0.00016
|
NM_033022.4(RPS24):c.189T>C (p.His63=)
|
rs201805132
|
0.00015
|
NM_001014.5(RPS10):c.351C>T (p.Leu117=)
|
rs376353902
|
0.00013
|
NM_007055.4(POLR3A):c.-103T>A
|
rs117201371
|
0.00011
|
NM_000987.5(RPL26):c.96C>T (p.Ser32=)
|
rs755369380
|
0.00010
|
NM_001011.4(RPS7):c.102G>A (p.Ser34=)
|
rs754617897
|
0.00010
|
NM_001011.4(RPS7):c.357-10A>G
|
rs202032908
|
0.00009
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
0.00008
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
NM_001022.4(RPS19):c.356+13G>C
|
rs781957086
|
0.00008
|
NM_001029.5(RPS26):c.63T>A (p.Ile21=)
|
rs148167449
|
0.00008
|
NM_000996.4(RPL35A):c.12-18G>A
|
rs373448841
|
0.00007
|
NM_001014.5(RPS10):c.103C>T (p.Leu35=)
|
rs143557454
|
0.00007
|
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)
|
rs201147592
|
0.00007
|
NM_001022.4(RPS19):c.*54T>C
|
rs527896025
|
0.00007
|
NM_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
NM_000975.5(RPL11):c.300A>G (p.Ser100=)
|
rs372622822
|
0.00006
|
NM_000975.5(RPL11):c.378C>T (p.Tyr126=)
|
rs774450430
|
0.00006
|
NM_000996.4(RPL35A):c.21C>T (p.Ser7=)
|
rs145660527
|
0.00006
|
NM_001011.4(RPS7):c.148-6C>T
|
rs533287773
|
0.00006
|
NM_001011.4(RPS7):c.75+13C>T
|
rs751796318
|
0.00006
|
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
NM_001022.4(RPS19):c.71+19G>A
|
rs377615364
|
0.00006
|
NM_001022.4(RPS19):c.75C>G (p.Ser25=)
|
rs370343297
|
0.00006
|
NM_001029.5(RPS26):c.-33C>T
|
rs372794158
|
0.00006
|
NM_002049.4(GATA1):c.480T>C (p.Asn160=)
|
rs143332634
|
0.00006
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
NM_000987.5(RPL26):c.288C>T (p.His96=)
|
rs573206384
|
0.00005
|
NM_000987.5(RPL26):c.327A>G (p.Leu109=)
|
rs755255765
|
0.00005
|
NM_000996.4(RPL35A):c.12-5C>G
|
rs541454864
|
0.00005
|
NM_001011.4(RPS7):c.543G>A (p.Thr181=)
|
rs776954129
|
0.00005
|
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu)
|
rs374314919
|
0.00005
|
NM_001022.4(RPS19):c.357-17C>T
|
rs782356785
|
0.00005
|
NM_001029.5(RPS26):c.60T>A (p.Pro20=)
|
rs368838700
|
0.00005
|
NM_000969.5(RPL5):c.-6C>T
|
rs199523145
|
0.00004
|
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_000975.5(RPL11):c.117G>A (p.Val39=)
|
rs746752024
|
0.00004
|
NM_000975.5(RPL11):c.6+16C>T
|
rs369905301
|
0.00004
|
NM_000975.5(RPL11):c.6+8G>C
|
rs201469553
|
0.00004
|
NM_000987.5(RPL26):c.169-5C>G
|
rs746381469
|
0.00004
|
NM_001011.4(RPS7):c.285C>T (p.Ile95=)
|
rs368931076
|
0.00004
|
NM_001011.4(RPS7):c.435C>T (p.Arg145=)
|
rs142207795
|
0.00004
|
NM_001014.4(RPS10):c.-47A>G
|
rs529023165
|
0.00004
|
NM_001014.5(RPS10):c.204C>T (p.Tyr68=)
|
rs368563040
|
0.00004
|
NM_001014.5(RPS10):c.400+17C>G
|
rs766650777
|
0.00004
|
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
|
rs199758134
|
0.00004
|
NM_001022.4(RPS19):c.192G>C (p.Leu64=)
|
rs144069838
|
0.00004
|
NM_001022.4(RPS19):c.6T>G (p.Pro2=)
|
rs782512026
|
0.00004
|
NM_001022.4(RPS19):c.72-17C>G
|
rs150151184
|
0.00004
|
NM_001029.5(RPS26):c.270A>G (p.Glu90=)
|
rs139056836
|
0.00004
|
NM_002049.4(GATA1):c.621C>T (p.Cys207=)
|
rs782785151
|
0.00004
|
NM_002049.4(GATA1):c.870+8C>T
|
rs370706809
|
0.00004
|
NM_033022.4(RPS24):c.276A>T (p.Ala92=)
|
rs763876559
|
0.00004
|
NM_033022.4(RPS24):c.391-14C>T
|
rs201639485
|
0.00004
|
NM_033022.4(RPS24):c.69+10G>A
|
rs767375848
|
0.00004
|
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys)
|
rs146882967
|
0.00003
|
NM_000996.4(RPL35A):c.327G>A (p.Arg109=)
|
rs754407977
|
0.00003
|
NM_001011.4(RPS7):c.63C>T (p.Ser21=)
|
rs145376788
|
0.00003
|
NM_001022.4(RPS19):c.1-7C>T
|
rs782801643
|
0.00003
|
NM_001022.4(RPS19):c.255C>T (p.Asn85=)
|
rs781860325
|
0.00003
|
NM_001022.4(RPS19):c.372A>T (p.Thr124=)
|
rs782722836
|
0.00003
|
NM_001029.5(RPS26):c.181+10T>G
|
rs201191387
|
0.00003
|
NM_002049.4(GATA1):c.220+17G>T
|
rs782352992
|
0.00003
|
NM_002049.4(GATA1):c.237A>G (p.Pro79=)
|
rs1557020162
|
0.00003
|
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu)
|
rs781920985
|
0.00003
|
NM_033022.4(RPS24):c.12C>T (p.Thr4=)
|
rs769340744
|
0.00003
|
NM_033022.4(RPS24):c.21C>T (p.Ile7=)
|
rs762233086
|
0.00003
|
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_000975.5(RPL11):c.258T>G (p.Gly86=)
|
rs760885169
|
0.00002
|
NM_000975.5(RPL11):c.33C>T (p.Pro11=)
|
rs764637448
|
0.00002
|
NM_000975.5(RPL11):c.507+8T>C
|
rs757566843
|
0.00002
|
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
|
rs759269888
|
0.00002
|
NM_000996.4(RPL35A):c.164+18G>A
|
rs749642279
|
0.00002
|
NM_001011.4(RPS7):c.264T>C (p.Ser88=)
|
rs1244488439
|
0.00002
|
NM_001014.5(RPS10):c.135C>T (p.Val45=)
|
rs148901210
|
0.00002
|
NM_001014.5(RPS10):c.171C>T (p.Tyr57=)
|
rs751801707
|
0.00002
|
NM_001022.4(RPS19):c.1-9C>A
|
rs376460080
|
0.00002
|
NM_001022.4(RPS19):c.87A>G (p.Lys29=)
|
rs11540256
|
0.00002
|
NM_001029.5(RPS26):c.207G>C (p.Val69=)
|
rs776240183
|
0.00002
|
NM_002049.4(GATA1):c.1041G>A (p.Gly347=)
|
rs1412419664
|
0.00002
|
NM_002049.4(GATA1):c.220+12G>A
|
rs2062674583
|
0.00002
|
NM_002049.4(GATA1):c.360C>T (p.Ala120=)
|
rs782008052
|
0.00002
|
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg)
|
rs782193818
|
0.00002
|
NM_002049.4(GATA1):c.740G>A (p.Arg247His)
|
rs782534643
|
0.00002
|
NM_002049.4(GATA1):c.822T>C (p.Ser274=)
|
rs781852329
|
0.00002
|
NM_033022.4(RPS24):c.-23C>T
|
rs766457744
|
0.00002
|
NM_033022.4(RPS24):c.60G>A (p.Arg20=)
|
rs751090185
|
0.00002
|
NM_033022.4(RPS24):c.6C>T (p.Asn2=)
|
rs746098498
|
0.00002
|
NM_000969.5(RPL5):c.18T>A (p.Val6=)
|
rs768965548
|
0.00001
|
NM_000969.5(RPL5):c.204T>A (p.Arg68=)
|
rs1031900489
|
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.657C>T (p.Tyr219=)
|
rs1481353859
|
0.00001
|
NM_000975.5(RPL11):c.24G>A (p.Lys8=)
|
rs143617222
|
0.00001
|
NM_000975.5(RPL11):c.264+9A>T
|
rs777041270
|
0.00001
|
NM_000975.5(RPL11):c.306T>C (p.Thr102=)
|
rs886046309
|
0.00001
|
NM_000975.5(RPL11):c.72C>T (p.Ile24=)
|
rs781675016
|
0.00001
|
NM_000981.4(RPL19):c.93A>G (p.Glu31=)
|
rs377198587
|
0.00001
|
NM_000987.5(RPL26):c.24T>C (p.Thr8=)
|
rs750540417
|
0.00001
|
NM_000987.5(RPL26):c.255G>A (p.Val85=)
|
rs758125897
|
0.00001
|
NM_000996.4(RPL35A):c.11+11T>C
|
rs766619628
|
0.00001
|
NM_000996.4(RPL35A):c.11+17T>C
|
rs780298603
|
0.00001
|
NM_000996.4(RPL35A):c.12-13T>A
|
rs778146996
|
0.00001
|
NM_000996.4(RPL35A):c.141C>T (p.Cys47=)
|
rs1440792535
|
0.00001
|
NM_000996.4(RPL35A):c.57G>A (p.Arg19=)
|
rs769775044
|
0.00001
|
NM_001011.4(RPS7):c.126G>A (p.Glu42=)
|
rs777387773
|
0.00001
|
NM_001011.4(RPS7):c.301C>T (p.Leu101=)
|
rs1001502341
|
0.00001
|
NM_001011.4(RPS7):c.378C>T (p.His126=)
|
rs764498089
|
0.00001
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
NM_001011.4(RPS7):c.462A>T (p.Ile154=)
|
rs1478289413
|
0.00001
|
NM_001011.4(RPS7):c.525T>G (p.Gly175=)
|
rs1392470365
|
0.00001
|
NM_001011.4(RPS7):c.66C>T (p.Gly22=)
|
rs773617808
|
0.00001
|
NM_001014.5(RPS10):c.186T>C (p.Phe62=)
|
rs753811128
|
0.00001
|
NM_001014.5(RPS10):c.189C>T (p.Ala63=)
|
rs772715124
|
0.00001
|
NM_001014.5(RPS10):c.312T>A (p.Pro104=)
|
rs775998609
|
0.00001
|
NM_001014.5(RPS10):c.322+15C>G
|
rs770954930
|
0.00001
|
NM_001014.5(RPS10):c.322+16A>G
|
rs747142176
|
0.00001
|
NM_001014.5(RPS10):c.323-4A>G
|
rs200083898
|
0.00001
|
NM_001014.5(RPS10):c.360G>A (p.Gly120=)
|
rs763715001
|
0.00001
|
NM_001014.5(RPS10):c.401-17G>A
|
rs753421531
|
0.00001
|
NM_001022.4(RPS19):c.24C>T (p.Asp8=)
|
rs782536520
|
0.00001
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
NM_001022.4(RPS19):c.357-6C>T
|
rs529093944
|
0.00001
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
NM_001022.4(RPS19):c.405C>T (p.Ala135=)
|
rs550819306
|
0.00001
|
NM_001022.4(RPS19):c.93C>G (p.Pro31=)
|
rs1318520916
|
0.00001
|
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
|
rs766621663
|
0.00001
|
NM_001029.5(RPS26):c.3+14C>T
|
rs763770729
|
0.00001
|
NM_001029.5(RPS26):c.3+20G>C
|
rs759864837
|
0.00001
|
NM_001029.5(RPS26):c.315T>A (p.Gly105=)
|
rs554297156
|
0.00001
|
NM_001029.5(RPS26):c.42C>T (p.Gly14=)
|
rs771196681
|
0.00001
|
NM_001029.5(RPS26):c.69C>T (p.Cys23=)
|
rs986563758
|
0.00001
|
NM_001029.5(RPS26):c.81C>T (p.Ala27=)
|
rs773982358
|
0.00001
|
NM_001029.5(RPS26):c.93C>T (p.Pro31=)
|
rs760255764
|
0.00001
|
NM_002049.4(GATA1):c.1029C>T (p.Ser343=)
|
rs1557020591
|
0.00001
|
NM_002049.4(GATA1):c.150G>A (p.Pro50=)
|
rs782678694
|
0.00001
|
NM_002049.4(GATA1):c.192G>A (p.Arg64=)
|
rs781912832
|
0.00001
|
NM_002049.4(GATA1):c.216C>T (p.Ser72=)
|
rs1180375270
|
0.00001
|
NM_002049.4(GATA1):c.220+10T>C
|
rs782691816
|
0.00001
|
NM_002049.4(GATA1):c.282C>T (p.Ala94=)
|
rs782123071
|
0.00001
|
NM_002049.4(GATA1):c.397C>T (p.Leu133=)
|
rs1557020203
|
0.00001
|
NM_002049.4(GATA1):c.599-13T>C
|
rs1557020294
|
0.00001
|
NM_002049.4(GATA1):c.798G>A (p.Thr266=)
|
rs184692721
|
0.00001
|
NM_002049.4(GATA1):c.949C>A (p.Arg317=)
|
rs781964937
|
0.00001
|
NM_033022.4(RPS24):c.234C>T (p.Ser78=)
|
rs1177372076
|
0.00001
|
NM_033022.4(RPS24):c.264A>G (p.Lys88=)
|
rs1476221269
|
0.00001
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
NM_033022.4(RPS24):c.324G>A (p.Lys108=)
|
rs746433565
|
0.00001
|
NM_033022.4(RPS24):c.333G>A (p.Lys111=)
|
rs144291219
|
0.00001
|
NM_033022.4(RPS24):c.390+14A>G
|
rs1158604804
|
0.00001
|
NM_033022.4(RPS24):c.99G>A (p.Ala33=)
|
rs772511022
|
0.00001
|
NC_000010.10:g.(?_79799952)_(79799964_?)dup
|
|
|
NM_000969.5(RPL5):c.-38C>T
|
rs372080902
|
|
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
|
|
|
NM_000969.5(RPL5):c.189+20G>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.190-6C>A
|
|
|
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
|
|
|
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
|
|
|
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
|
|
|
NM_000969.5(RPL5):c.3+11G>A
|
rs376414614
|
|
NM_000969.5(RPL5):c.3+11G>C
|
rs376414614
|
|
NM_000969.5(RPL5):c.3+18T>G
|
|
|
NM_000969.5(RPL5):c.3+19C>G
|
|
|
NM_000969.5(RPL5):c.310C>T (p.Leu104=)
|
rs766476007
|
|
NM_000969.5(RPL5):c.324+8C>A
|
|
|
NM_000969.5(RPL5):c.325-16T>C
|
rs1687116560
|
|
NM_000969.5(RPL5):c.325-17A>G
|
rs2100684491
|
|
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
|
|
|
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
|
|
|
NM_000969.5(RPL5):c.4-17A>T
|
|
|
NM_000969.5(RPL5):c.4-7C>T
|
|
|
NM_000969.5(RPL5):c.4-7del
|
rs1291987734
|
|
NM_000969.5(RPL5):c.4-9T>C
|
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
|
|
|
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
|
|
|
NM_000969.5(RPL5):c.527+14_527+17dup
|
|
|
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.528-20T>C
|
|
|
NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
|
|
|
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
|
|
|
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
|
|
|
NM_000969.5(RPL5):c.6G>A (p.Gly2=)
|
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000969.5(RPL5):c.705+14C>T
|
rs2100688720
|
|
NM_000969.5(RPL5):c.706-10T>C
|
|
|
NM_000969.5(RPL5):c.706-13T>A
|
|
|
NM_000969.5(RPL5):c.73+10C>T
|
|
|
NM_000969.5(RPL5):c.73+9dup
|
|
|
NM_000969.5(RPL5):c.74-15_74-13del
|
rs2100676802
|
|
NM_000969.5(RPL5):c.74-7C>T
|
|
|
NM_000969.5(RPL5):c.744A>G (p.Arg248=)
|
|
|
NM_000969.5(RPL5):c.78T>G (p.Gly26=)
|
|
|
NM_000969.5(RPL5):c.794+10_794+12del
|
rs1557444104
|
|
NM_000969.5(RPL5):c.794+16_794+19del
|
rs747509136
|
|
NM_000969.5(RPL5):c.794+19dup
|
rs747509136
|
|
NM_000969.5(RPL5):c.795-14C>A
|
|
|
NM_000969.5(RPL5):c.795-14C>G
|
|
|
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
|
|
|
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
|
|
|
NM_000975.5(RPL11):c.157+7dup
|
|
|
NM_000975.5(RPL11):c.157+9T>G
|
|
|
NM_000975.5(RPL11):c.158-7C>G
|
rs768654673
|
|
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
|
|
|
NM_000975.5(RPL11):c.189G>A (p.Arg63=)
|
rs764531667
|
|
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
|
|
|
NM_000975.5(RPL11):c.222T>G (p.Val74=)
|
|
|
NM_000975.5(RPL11):c.264+13C>T
|
|
|
NM_000975.5(RPL11):c.264+15C>A
|
rs765761574
|
|
NM_000975.5(RPL11):c.264+16del
|
|
|
NM_000975.5(RPL11):c.265-6C>T
|
|
|
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
|
|
|
NM_000975.5(RPL11):c.343C>T (p.Leu115=)
|
rs770189198
|
|
NM_000975.5(RPL11):c.375C>T (p.Ile125=)
|
rs2124431138
|
|
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
|
|
|
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
|
|
|
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
|
|
|
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
|
|
|
NM_000975.5(RPL11):c.507+16C>T
|
|
|
NM_000975.5(RPL11):c.508-12C>G
|
|
|
NM_000975.5(RPL11):c.508-20_508-17del
|
|
|
NM_000975.5(RPL11):c.508-7C>T
|
|
|
NM_000975.5(RPL11):c.6+10T>A
|
|
|
NM_000975.5(RPL11):c.6+12G>C
|
|
|
NM_000975.5(RPL11):c.6+14A>G
|
rs376826360
|
|
NM_000975.5(RPL11):c.6+15C>T
|
rs753341830
|
|
NM_000975.5(RPL11):c.6+16C>G
|
|
|
NM_000975.5(RPL11):c.6+18_6+19delinsAT
|
rs2124428020
|
|
NM_000975.5(RPL11):c.6+19G>C
|
|
|
NM_000975.5(RPL11):c.6+20A>T
|
|
|
NM_000975.5(RPL11):c.6+8G>T
|
|
|
NM_000975.5(RPL11):c.60C>G (p.Leu20=)
|
rs2124429060
|
|
NM_000975.5(RPL11):c.7-10C>T
|
rs773406981
|
|
NM_000975.5(RPL11):c.7-19C>T
|
|
|
NM_000975.5(RPL11):c.7-6T>G
|
|
|
NM_000975.5(RPL11):c.7-7G>C
|
|
|
NM_000975.5(RPL11):c.7-9C>T
|
rs558662093
|
|
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
|
|
|
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
|
|
|
NM_000975.5(RPL11):c.94A>C (p.Arg32=)
|
|
|
NM_000981.4(RPL19):c.126G>C (p.Arg42=)
|
|
|
NM_000981.4(RPL19):c.210C>T (p.Arg70=)
|
|
|
NM_000981.4(RPL19):c.456G>A (p.Lys152=)
|
|
|
NM_000981.4(RPL19):c.534G>A (p.Gln178=)
|
rs72823350
|
|
NM_000981.4(RPL19):c.537C>G (p.Ala179=)
|
|
|
NM_000981.4(RPL19):c.564A>G (p.Leu188=)
|
rs758902267
|
|
NM_000981.4(RPL19):c.585G>A (p.Lys195=)
|
rs751845105
|
|
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
|
|
|
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
|
|
|
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
|
|
|
NM_000987.5(RPL26):c.168+11C>G
|
|
|
NM_000987.5(RPL26):c.168+15T>G
|
|
|
NM_000987.5(RPL26):c.168+18T>G
|
|
|
NM_000987.5(RPL26):c.169-19C>T
|
|
|
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
|
|
|
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
|
|
|
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
|
|
|
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
|
|
|
NM_000987.5(RPL26):c.300C>T (p.His100=)
|
|
|
NM_000987.5(RPL26):c.309+13G>T
|
|
|
NM_000987.5(RPL26):c.309+18T>C
|
|
|
NM_000987.5(RPL26):c.309+7G>T
|
|
|
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
|
|
|
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
|
|
|
NM_000987.5(RPL26):c.384A>T (p.Val128=)
|
rs201307266
|
|
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
|
|
|
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
|
|
|
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
|
|
|
NM_000987.5(RPL26):c.72C>T (p.His24=)
|
|
|
NM_000996.4(RPL35A):c.*21T>A
|
rs199693579
|
|
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
|
|
|
NM_000996.4(RPL35A):c.12-18G>T
|
|
|
NM_000996.4(RPL35A):c.12-4T>G
|
|
|
NM_000996.4(RPL35A):c.12-5C>T
|
|
|
NM_000996.4(RPL35A):c.12-7G>T
|
rs2109804559
|
|
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
|
|
|
NM_000996.4(RPL35A):c.164+13C>T
|
rs2109805109
|
|
NM_000996.4(RPL35A):c.164+15C>G
|
rs890177445
|
|
NM_000996.4(RPL35A):c.164+15C>T
|
|
|
NM_000996.4(RPL35A):c.165-15C>G
|
|
|
NM_000996.4(RPL35A):c.165-20C>T
|
|
|
NM_000996.4(RPL35A):c.183C>T (p.Gly61=)
|
rs370212853
|
|
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
|
|
|
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
|
|
|
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
|
|
|
NM_000996.4(RPL35A):c.282T>C (p.Ala94=)
|
rs201018840
|
|
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
|
|
|
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
|
|
|
NM_000996.4(RPL35A):c.309+7A>G
|
|
|
NM_000996.4(RPL35A):c.310-20G>A
|
rs200360699
|
|
NM_000996.4(RPL35A):c.310-20G>C
|
rs200360699
|
|
NM_000996.4(RPL35A):c.310-6del
|
rs2109818917
|
|
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
|
|
|
NM_000996.4(RPL35A):c.324A>G (p.Ser108=)
|
rs751160471
|
|
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
|
|
|
NM_000996.4(RPL35A):c.33T>C (p.Phe11=)
|
rs751752645
|
|
NM_000996.4(RPL35A):c.75A>G (p.Thr25=)
|
rs1244935223
|
|
NM_000996.4(RPL35A):c.90T>C (p.Ile30=)
|
rs2109804838
|
|
NM_001011.4(RPS7):c.-109C>T
|
rs142444366
|
|
NM_001011.4(RPS7):c.-19+13C>T
|
rs530845583
|
|
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
|
|
|
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
|
|
|
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
|
|
|
NM_001011.4(RPS7):c.147+14C>A
|
|
|
NM_001011.4(RPS7):c.147+15C>T
|
|
|
NM_001011.4(RPS7):c.147+16C>T
|
rs912491105
|
|
NM_001011.4(RPS7):c.147+7T>C
|
|
|
NM_001011.4(RPS7):c.147+8G>A
|
rs2147819351
|
|
NM_001011.4(RPS7):c.148-19T>A
|
|
|
NM_001011.4(RPS7):c.148-20A>C
|
|
|
NM_001011.4(RPS7):c.148-20A>G
|
|
|
NM_001011.4(RPS7):c.177T>C (p.Ala59=)
|
|
|
NM_001011.4(RPS7):c.216C>T (p.Phe72=)
|
rs781328965
|
|
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
|
|
|
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
|
|
|
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
|
|
|
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
|
|
|
NM_001011.4(RPS7):c.273T>C (p.His91=)
|
rs1442216854
|
|
NM_001011.4(RPS7):c.276C>T (p.Val92=)
|
rs61730448
|
|
NM_001011.4(RPS7):c.291+19C>T
|
|
|
NM_001011.4(RPS7):c.292-7C>G
|
|
|
NM_001011.4(RPS7):c.292-8C>A
|
|
|
NM_001011.4(RPS7):c.292-8C>T
|
rs373405472
|
|
NM_001011.4(RPS7):c.292-9A>T
|
rs746941533
|
|
NM_001011.4(RPS7):c.336T>C (p.Asn112=)
|
|
|
NM_001011.4(RPS7):c.357-20C>A
|
|
|
NM_001011.4(RPS7):c.366G>A (p.Leu122=)
|
rs2147822425
|
|
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
|
|
|
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
|
|
|
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
|
|
|
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
|
|
|
NM_001011.4(RPS7):c.447T>C (p.Asp149=)
|
rs2147822460
|
|
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
|
|
|
NM_001011.4(RPS7):c.471T>C (p.His157=)
|
|
|
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
|
|
|
NM_001011.4(RPS7):c.508-10T>C
|
|
|
NM_001011.4(RPS7):c.508-12C>G
|
rs2071639
|
|
NM_001011.4(RPS7):c.519T>C (p.Phe173=)
|
rs1572360947
|
|
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
|
|
|
NM_001011.4(RPS7):c.75+8G>T
|
|
|
NM_001011.4(RPS7):c.76-12G>A
|
|
|
NM_001011.4(RPS7):c.76-12G>C
|
rs2147819267
|
|
NM_001011.4(RPS7):c.76-13C>G
|
|
|
NM_001011.4(RPS7):c.76-13C>T
|
|
|
NM_001011.4(RPS7):c.76-16G>A
|
rs767920442
|
|
NM_001011.4(RPS7):c.76-8C>G
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
|
|
|
NM_001011.4(RPS7):c.82C>T (p.Leu28=)
|
|
|
NM_001014.5(RPS10):c.105G>A (p.Leu35=)
|
|
|
NM_001014.5(RPS10):c.150+17G>A
|
|
|
NM_001014.5(RPS10):c.150+9del
|
rs372641476
|
|
NM_001014.5(RPS10):c.151-20A>G
|
|
|
NM_001014.5(RPS10):c.151-4A>G
|
|
|
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
|
|
|
NM_001014.5(RPS10):c.201C>T (p.Phe67=)
|
rs2113805419
|
|
NM_001014.5(RPS10):c.270G>A (p.Val90=)
|
|
|
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
|
|
|
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
|
|
|
NM_001014.5(RPS10):c.291C>T (p.Ser97=)
|
|
|
NM_001014.5(RPS10):c.297A>G (p.Pro99=)
|
rs2113805269
|
|
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
|
|
|
NM_001014.5(RPS10):c.322+13C>T
|
|
|
NM_001014.5(RPS10):c.322+15C>T
|
|
|
NM_001014.5(RPS10):c.322+17A>G
|
|
|
NM_001014.5(RPS10):c.323-18G>A
|
|
|
NM_001014.5(RPS10):c.323-19T>C
|
rs1765779305
|
|
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
|
|
|
NM_001014.5(RPS10):c.354A>C (p.Thr118=)
|
|
|
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
|
|
|
NM_001014.5(RPS10):c.400+13A>G
|
|
|
NM_001014.5(RPS10):c.400+19dup
|
|
|
NM_001014.5(RPS10):c.400+20A>G
|
|
|
NM_001014.5(RPS10):c.401-10dup
|
|
|
NM_001014.5(RPS10):c.401-11dup
|
|
|
NM_001014.5(RPS10):c.401-16A>T
|
|
|
NM_001014.5(RPS10):c.408C>A (p.Ala136=)
|
rs147566753
|
|
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
|
|
|
NM_001014.5(RPS10):c.457-6T>C
|
rs2113793989
|
|
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
|
|
|
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
|
|
|
NM_001021.6(RPS17):c.126C>T (p.Pro42=)
|
|
|
NM_001021.6(RPS17):c.390G>A (p.Thr130=)
|
|
|
NM_001021.6(RPS17):c.45C>T (p.Val15=)
|
|
|
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
|
|
|
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
|
|
|
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
|
|
|
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
|
|
|
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
|
|
|
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
|
|
|
NM_001022.4(RPS19):c.15T>A (p.Thr5=)
|
rs2123256038
|
|
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
|
|
|
NM_001022.4(RPS19):c.172+17T>C
|
|
|
NM_001022.4(RPS19):c.173-16C>T
|
|
|
NM_001022.4(RPS19):c.173-20C>G
|
|
|
NM_001022.4(RPS19):c.173-20C>T
|
|
|
NM_001022.4(RPS19):c.173-6C>T
|
|
|
NM_001022.4(RPS19):c.173-8_173-7delinsTT
|
rs2123283596
|
|
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
|
|
|
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
|
|
|
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
|
|
|
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
|
|
|
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
|
|
|
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
|
|
|
NM_001022.4(RPS19):c.330G>A (p.Leu110=)
|
rs2123284228
|
|
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
|
|
|
NM_001022.4(RPS19):c.356+12A>G
|
|
|
NM_001022.4(RPS19):c.356+13G>T
|
|
|
NM_001022.4(RPS19):c.356+15G>A
|
|
|
NM_001022.4(RPS19):c.356+18G>T
|
rs61762294
|
|
NM_001022.4(RPS19):c.356+19G>A
|
|
|
NM_001022.4(RPS19):c.357-10C>T
|
|
|
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
|
|
|
NM_001022.4(RPS19):c.411+11C>T
|
|
|
NM_001022.4(RPS19):c.411+19G>A
|
|
|
NM_001022.4(RPS19):c.411+20T>G
|
|
|
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
|
|
|
NM_001022.4(RPS19):c.57A>G (p.Ala19=)
|
rs2123256237
|
|
NM_001022.4(RPS19):c.71+18G>A
|
|
|
NM_001022.4(RPS19):c.72-10T>G
|
rs1176399879
|
|
NM_001022.4(RPS19):c.72-15C>T
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
NM_001022.4(RPS19):c.90C>G (p.Val30=)
|
|
|
NM_001029.5(RPS26):c.-27C>T
|
rs200831849
|
|
NM_001029.5(RPS26):c.-31C>T
|
rs17118262
|
|
NM_001029.5(RPS26):c.-9G>T
|
rs372708429
|
|
NM_001029.5(RPS26):c.120C>A (p.Val40=)
|
|
|
NM_001029.5(RPS26):c.120C>G (p.Val40=)
|
|
|
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
|
|
|
NM_001029.5(RPS26):c.144A>G (p.Ala48=)
|
rs150715896
|
|
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
|
|
|
NM_001029.5(RPS26):c.181+19C>G
|
rs201040758
|
|
NM_001029.5(RPS26):c.181+8G>C
|
|
|
NM_001029.5(RPS26):c.182-16_182-15del
|
|
|
NM_001029.5(RPS26):c.182-20C>T
|
|
|
NM_001029.5(RPS26):c.182-9A>G
|
|
|
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
|
|
|
NM_001029.5(RPS26):c.201G>A (p.Leu67=)
|
rs1371451613
|
|
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
|
|
|
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
|
|
|
NM_001029.5(RPS26):c.3+10C>T
|
|
|
NM_001029.5(RPS26):c.3+12T>C
|
|
|
NM_001029.5(RPS26):c.3+13G>T
|
rs199917474
|
|
NM_001029.5(RPS26):c.3+14C>A
|
|
|
NM_001029.5(RPS26):c.3+14C>G
|
rs763770729
|
|
NM_001029.5(RPS26):c.3+7C>G
|
rs115750993
|
|
NM_001029.5(RPS26):c.3+7C>T
|
rs115750993
|
|
NM_001029.5(RPS26):c.3+9T>A
|
rs545595719
|
|
NM_001029.5(RPS26):c.312+7A>G
|
|
|
NM_001029.5(RPS26):c.313-10dup
|
|
|
NM_001029.5(RPS26):c.313-17_313-14del
|
rs771654280
|
|
NM_001029.5(RPS26):c.313-7C>T
|
|
|
NM_001029.5(RPS26):c.327T>C (p.Arg109=)
|
rs56696262
|
|
NM_001029.5(RPS26):c.333A>T (p.Pro111=)
|
rs1179423823
|
|
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
|
|
|
NM_001029.5(RPS26):c.4-10C>T
|
|
|
NM_001029.5(RPS26):c.4-13C>T
|
rs962158538
|
|
NM_001029.5(RPS26):c.4-4G>T
|
rs2136753773
|
|
NM_001029.5(RPS26):c.4-7G>C
|
rs1288899882
|
|
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
|
|
|
NM_001032.5(RPS29):c.163-4del
|
rs373877728
|
|
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
|
|
|
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)
|
rs1160029790
|
|
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
|
|
|
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
|
|
|
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
|
|
|
NM_002049.4(GATA1):c.1059G>C (p.Leu353=)
|
rs2147307659
|
|
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
|
|
|
NM_002049.4(GATA1):c.1086T>C (p.His362=)
|
|
|
NM_002049.4(GATA1):c.1146C>T (p.Phe382=)
|
|
|
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
|
|
|
NM_002049.4(GATA1):c.1159C>T (p.Leu387=)
|
|
|
NM_002049.4(GATA1):c.1179C>T (p.Ser393=)
|
rs781868016
|
|
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
|
|
|
NM_002049.4(GATA1):c.1188A>C (p.Thr396=)
|
rs2147307813
|
|
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
|
|
|
NM_002049.4(GATA1):c.147C>A (p.Ala49=)
|
rs2147305674
|
|
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
|
|
|
NM_002049.4(GATA1):c.207C>T (p.Tyr69=)
|
rs1602219215
|
|
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
|
|
|
NM_002049.4(GATA1):c.220+13A>C
|
rs2147305801
|
|
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
|
|
|
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro)
|
rs1557020166
|
|
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
|
|
|
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
|
|
|
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
|
|
|
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
|
|
|
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
|
|
|
NM_002049.4(GATA1):c.327G>A (p.Val109=)
|
|
|
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu)
|
rs782208453
|
|
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
|
|
|
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
|
|
|
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
|
|
|
NM_002049.4(GATA1):c.39G>A (p.Glu13=)
|
rs2147305570
|
|
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
|
|
|
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
|
|
|
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
|
|
|
NM_002049.4(GATA1):c.561T>C (p.Ser187=)
|
rs2147306665
|
|
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
|
|
|
NM_002049.4(GATA1):c.598+14A>T
|
|
|
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
|
|
|
NM_002049.4(GATA1):c.711G>A (p.Gln237=)
|
rs1204529779
|
|
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
|
|
|
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
|
|
|
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
|
|
|
NM_002049.4(GATA1):c.871-11C>T
|
|
|
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
|
|
|
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
|
|
|
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
|
|
|
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
|
|
|
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
|
|
|
NM_033022.4(RPS24):c.-37C>T
|
rs375555593
|
|
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
|
|
|
NM_033022.4(RPS24):c.156G>T (p.Pro52=)
|
rs150157180
|
|
NM_033022.4(RPS24):c.165C>T (p.Ile55=)
|
rs1589326814
|
|
NM_033022.4(RPS24):c.171A>T (p.Val57=)
|
|
|
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
|
|
|
NM_033022.4(RPS24):c.246A>C (p.Ala82=)
|
rs1240034111
|
|
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
|
|
|
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
|
|
|
NM_033022.4(RPS24):c.279+14_279+18del
|
|
|
NM_033022.4(RPS24):c.279+17T>A
|
|
|
NM_033022.4(RPS24):c.279+20_279+27del
|
rs763970487
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
NM_033022.4(RPS24):c.280-14C>G
|
|
|
NM_033022.4(RPS24):c.280-19G>T
|
|
|
NM_033022.4(RPS24):c.280-6A>C
|
|
|
NM_033022.4(RPS24):c.280-6A>G
|
|
|
NM_033022.4(RPS24):c.297G>A (p.Lys99=)
|
rs1020277168
|
|
NM_033022.4(RPS24):c.3+14G>C
|
|
|
NM_033022.4(RPS24):c.3+15G>A
|
rs764832484
|
|
NM_033022.4(RPS24):c.3+16C>T
|
|
|
NM_033022.4(RPS24):c.3+17C>T
|
rs751476775
|
|
NM_033022.4(RPS24):c.3+20T>A
|
|
|
NM_033022.4(RPS24):c.3+7C>G
|
|
|
NM_033022.4(RPS24):c.3+9C>T
|
rs775865079
|
|
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
|
|
|
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
|
|
|
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
|
|
|
NM_033022.4(RPS24):c.390+13A>C
|
|
|
NM_033022.4(RPS24):c.390+9C>T
|
|
|
NM_033022.4(RPS24):c.391-11C>T
|
|
|
NM_033022.4(RPS24):c.391-4dup
|
|
|
NM_033022.4(RPS24):c.391-6A>G
|
|
|
NM_033022.4(RPS24):c.4-11T>C
|
|
|
NM_033022.4(RPS24):c.4-16G>C
|
|
|
NM_033022.4(RPS24):c.4-20C>G
|
rs2131975997
|
|
NM_033022.4(RPS24):c.69+11G>A
|
|
|
NM_033022.4(RPS24):c.69+17C>T
|
|
|
NM_033022.4(RPS24):c.70-10C>T
|
rs1345822997
|
|
NM_033022.4(RPS24):c.70-14A>G
|
|
|
NM_033022.4(RPS24):c.70-15G>T
|
|
|
NM_033022.4(RPS24):c.81C>A (p.Val27=)
|
|
|