ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1344
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001014.5(RPS10):c.-1+218A>C rs4713778 0.99812
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_000969.5(RPL5):c.794+121G>A rs10874744 0.58918
NM_001021.6(RPS17):c.159T>C (p.Tyr53=) rs6991 0.25775
NM_001014.4(RPS10):c.-58C>T rs78454682 0.09137
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
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.401-18C>T rs41269040 0.02247
NC_000006.12:g.34426129A>G rs113071821 0.01181
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
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_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_000969.5(RPL5):c.325-4A>G rs183825489 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_002049.4(GATA1):c.1173G>A (p.Thr391=) rs61735969 0.00256
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_001022.3(RPS19):c.-234G>A rs142324259 0.00161
NM_001022.4(RPS19):c.72-92A>G rs566047445 0.00146
NM_000969.5(RPL5):c.*1A>G rs11540833 0.00126
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_002049.4(GATA1):c.201G>A (p.Glu67=) rs61753429 0.00109
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_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_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000981.4(RPL19):c.369G>A (p.Leu123=) rs370663313 0.00040
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_001022.3(RPS19):c.-274T>C rs77406992 0.00036
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_000981.4(RPL19):c.426C>T (p.Ile142=) rs557578994 0.00032
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu) rs372131208 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
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_002049.4(GATA1):c.158C>A (p.Ala53Asp) rs142614402 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_001022.3(RPS19):c.-288A>C rs192556926 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_001022.3(RPS19):c.-50G>A rs886634767 0.00019
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_002049.4(GATA1):c.942A>G (p.Lys314=) rs150473615 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_002049.4(GATA1):c.163G>A (p.Ala55Thr) rs150572851 0.00016
NM_002049.4(GATA1):c.871-7T>C rs371752832 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_002049.4(GATA1):c.1045G>A (p.Val349Met) rs199710067 0.00014
NM_000975.5(RPL11):c.6+19G>T rs563555270 0.00013
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001022.4(RPS19):c.387A>G (p.Arg129=) rs782546942 0.00011
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_002049.4(GATA1):c.1157T>C (p.Leu386Pro) rs782120820 0.00009
NM_002049.4(GATA1):c.361G>A (p.Val121Met) rs200509606 0.00009
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
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_000975.5(RPL11):c.6+9C>T rs758722817 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_002049.4(GATA1):c.1046T>C (p.Val349Ala) rs146196033 0.00007
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
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_001022.3(RPS19):c.-74C>T rs886054468 0.00006
NM_001022.4(RPS19):c.173-19C>G rs782495262 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 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_002049.4(GATA1):c.295G>A (p.Gly99Ser) rs184815507 0.00006
NM_002049.4(GATA1):c.480T>C (p.Asn160=) rs143332634 0.00006
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) rs140561920 0.00006
NM_002049.4(GATA1):c.678C>T (p.Asn226=) rs370522986 0.00006
NM_002049.4(GATA1):c.744+5G>A rs376546932 0.00006
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124 0.00005
NM_000975.5(RPL11):c.51C>T (p.Ile17=) rs766157130 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_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001014.5(RPS10):c.401-9A>G rs760917852 0.00005
NM_001022.4(RPS19):c.357-17C>T rs782356785 0.00005
NM_002049.4(GATA1):c.1230G>A (p.Pro410=) rs201176390 0.00005
NM_002049.4(GATA1):c.594C>A (p.Pro198=) rs369844571 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 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_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_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.400C>T (p.Pro134Ser) rs759213353 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001014.5(RPS10):c.479G>A (p.Arg160His) rs139095177 0.00004
NM_001022.4(RPS19):c.10G>T (p.Val4Phe) rs782693679 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_002049.4(GATA1):c.1067G>A (p.Gly356Asp) rs202091014 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_002049.4(GATA1):c.982G>A (p.Glu328Lys) rs1418790540 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_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_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 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_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser) rs1340713003 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_002049.4(GATA1):c.479A>G (p.Asn160Ser) rs59609788 0.00003
NM_002049.4(GATA1):c.600G>A (p.Glu200=) rs781977639 0.00003
NM_002049.4(GATA1):c.663C>G (p.Gly221=) rs782282009 0.00003
NM_002049.4(GATA1):c.745-9G>A rs371005242 0.00003
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln) rs782236381 0.00003
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) rs751857347 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.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_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.452T>C (p.Ile151Thr) rs754966145 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_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.1-7C>T rs782801643 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_002049.4(GATA1):c.1041G>A (p.Gly347=) rs1412419664 0.00002
NM_002049.4(GATA1):c.1170C>G (p.Pro390=) rs782167312 0.00002
NM_002049.4(GATA1):c.1176C>G (p.Gly392=) rs782094568 0.00002
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile) rs782599587 0.00002
NM_002049.4(GATA1):c.220+12G>A rs2062674583 0.00002
NM_002049.4(GATA1):c.302C>T (p.Thr101Met) rs200599207 0.00002
NM_002049.4(GATA1):c.360C>T (p.Ala120=) rs782008052 0.00002
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln) rs997764249 0.00002
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr) rs782651118 0.00002
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg) rs782193818 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002049.4(GATA1):c.740G>A (p.Arg247His) rs782534643 0.00002
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn) rs374457234 0.00002
NM_002049.4(GATA1):c.822T>C (p.Ser274=) rs781852329 0.00002
NM_002049.4(GATA1):c.949C>T (p.Arg317Trp) rs781964937 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_033022.4(RPS24):c.82C>G (p.Leu28Val) rs775383590 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.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
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg) rs760498453 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.287A>G (p.Lys96Arg) rs369949969 0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309 0.00001
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg) rs766991539 0.00001
NM_000975.5(RPL11):c.5C>T (p.Ala2Val) rs768850297 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_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147 0.00001
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) rs747386536 0.00001
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001011.4(RPS7):c.66C>T (p.Gly22=) rs773617808 0.00001
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln) rs1765898082 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_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.425C>T (p.Ala142Val) rs1765648018 0.00001
NM_001022.3(RPS19):c.-139C>T rs886054467 0.00001
NM_001022.3(RPS19):c.-339T>C rs886054465 0.00001
NM_001022.4(RPS19):c.-1+14C>T rs886054469 0.00001
NM_001022.4(RPS19):c.126C>T (p.His42=) rs371560118 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001022.4(RPS19):c.173-9T>C rs782552614 0.00001
NM_001022.4(RPS19):c.24C>T (p.Asp8=) rs782536520 0.00001
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) rs782752734 0.00001
NM_001022.4(RPS19):c.276C>T (p.Phe92=) rs374703100 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.315T>A (p.Gly105=) rs554297156 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.1232T>C (p.Leu411Pro) rs1460124191 0.00001
NM_002049.4(GATA1):c.150G>A (p.Pro50=) rs782678694 0.00001
NM_002049.4(GATA1):c.173C>T (p.Ala58Val) rs782299679 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.221-4A>G rs782150782 0.00001
NM_002049.4(GATA1):c.282C>T (p.Ala94=) rs782123071 0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser) rs782790256 0.00001
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys) rs782263736 0.00001
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr) rs914292956 0.00001
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn) rs782411113 0.00001
NM_002049.4(GATA1):c.397C>T (p.Leu133=) rs1557020203 0.00001
NM_002049.4(GATA1):c.485C>T (p.Ala162Val) rs1177167183 0.00001
NM_002049.4(GATA1):c.598+3G>A rs782536159 0.00001
NM_002049.4(GATA1):c.599-13T>C rs1557020294 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr) rs782188059 0.00001
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp) rs782632688 0.00001
NM_002049.4(GATA1):c.798G>A (p.Thr266=) rs184692721 0.00001
NM_002049.4(GATA1):c.889A>T (p.Met297Leu) rs1569499699 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.23G>A (p.Arg8His) rs1291294524 0.00001
NM_033022.4(RPS24):c.264A>G (p.Lys88=) rs1476221269 0.00001
NM_033022.4(RPS24):c.279+2dup rs1459887559 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.390+3dup rs780893174 0.00001
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn) rs772167568 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_033022.4(RPS24):c.99G>A (p.Ala33=) rs772511022 0.00001
NC_000001.10:g.(?_23395012)_(24673151_?)del
NC_000001.10:g.(?_24021140)_(24022863_?)del
NC_000001.10:g.(?_91726847)_(93307422_?)dup
NC_000001.10:g.(?_93297672)_(93307422_?)del
NC_000001.10:g.(?_93306098)_(93307422_?)dup
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_000006.11:g.(?_34385283)_(34386211_?)dup
NC_000006.11:g.(?_34385283)_(34392998_?)dup
NC_000006.12:g.(?_34417506)_(34421817_?)del
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000010.10:g.(?_79799952)_(79799964_?)dup
NC_000010.11:g.(?_78033902)_(78033914_?)del
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.10:g.(?_8136214)_(8285628_?)del
NC_000017.10:g.(?_8192101)_(8283260_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000019.9:g.(?_42363988)_(42364925_?)del
NC_000019.9:g.(?_42363988)_(42375445_?)del
NC_000019.9:g.(?_42373081)_(42373843_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000023.10:g.(?_48542243)_(48652571_?)del
NC_000023.10:g.(?_48543926)_(48652581_?)dup
NC_000023.10:g.(?_48649517)_(48652571_?)dup
NM_000546.6(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.6(TP53):c.1083del (p.Ser362fs) rs1555524354
NM_000661.5(RPL9):c.-2+1G>T
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
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.157_169dup (p.Asn57fs) rs1571024385
NM_000969.5(RPL5):c.15dup (p.Val6fs) rs1686990676
NM_000969.5(RPL5):c.160C>T (p.Arg54Cys)
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+20G>A
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.1A>C (p.Met1Leu) rs2100672432
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.231A>C (p.Ala77=) rs1260303346
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.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.26del (p.Asn9fs)
NM_000969.5(RPL5):c.270T>C (p.Val90=)
NM_000969.5(RPL5):c.272G>T (p.Gly91Val)
NM_000969.5(RPL5):c.272del (p.Gly91fs)
NM_000969.5(RPL5):c.285T>C (p.Tyr95=)
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly) rs2100680814
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+17G>A
NM_000969.5(RPL5):c.3+18T>G
NM_000969.5(RPL5):c.3+19C>G
NM_000969.5(RPL5):c.3+1G>A
NM_000969.5(RPL5):c.3+3G>A
NM_000969.5(RPL5):c.3+3G>T rs200628272
NM_000969.5(RPL5):c.3+5G>A
NM_000969.5(RPL5):c.3+5G>C
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+15A>T
NM_000969.5(RPL5):c.324+3A>G
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.330C>T (p.Leu110=)
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.374T>C (p.Val125Ala)
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.3G>A (p.Met1Ile)
NM_000969.5(RPL5):c.4-10T>A rs1686989669
NM_000969.5(RPL5):c.4-15T>G
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.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.468C>T (p.Gly156=)
NM_000969.5(RPL5):c.474A>C (p.Lys158Asn)
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.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.528-20T>C
NM_000969.5(RPL5):c.528dup (p.Thr177fs)
NM_000969.5(RPL5):c.535C>T (p.Arg179Ter) rs1057520746
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.588G>C (p.Arg196=)
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.614C>G (p.Ala205Gly)
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
NM_000969.5(RPL5):c.623T>C (p.Met208Thr)
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.639AGA[1] (p.Glu214del)
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
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.695C>T (p.Thr232Ile)
NM_000969.5(RPL5):c.69A>G (p.Arg23=)
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.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+15T>C
NM_000969.5(RPL5):c.73+9dup
NM_000969.5(RPL5):c.74-15_74-13del rs2100676802
NM_000969.5(RPL5):c.74-1G>A 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=)
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+17_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000969.5(RPL5):c.794+7C>T
NM_000969.5(RPL5):c.795-14C>A
NM_000969.5(RPL5):c.795-14C>G
NM_000969.5(RPL5):c.795-4G>A
NM_000969.5(RPL5):c.807C>A (p.Pro269=)
NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
NM_000969.5(RPL5):c.832G>A (p.Asp278Asn) rs764283613
NM_000969.5(RPL5):c.838G>A (p.Val280Ile) rs1687377449
NM_000969.5(RPL5):c.83del (p.Thr28fs)
NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
NM_000969.5(RPL5):c.858C>T (p.Ser286=)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
NM_000969.5(RPL5):c.878G>A (p.Arg293Gln)
NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
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.102G>C (p.Thr34=) rs199772693
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.118T>C (p.Leu40=)
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) rs2124429140
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
NM_000975.5(RPL11):c.136_157+26del rs2124429146
NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.151dup (p.Ser51fs) rs2124429183
NM_000975.5(RPL11):c.157+12C>A
NM_000975.5(RPL11):c.157+7dup
NM_000975.5(RPL11):c.157+9T>G
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.158-7C>G rs768654673
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
NM_000975.5(RPL11):c.168T>C (p.Thr56=)
NM_000975.5(RPL11):c.174A>G (p.Arg58=)
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
NM_000975.5(RPL11):c.189G>A (p.Arg63=) rs764531667
NM_000975.5(RPL11):c.203T>C (p.Ile68Thr) rs1644517016
NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
NM_000975.5(RPL11):c.222T>G (p.Val74=)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
NM_000975.5(RPL11):c.264+11_264+12insA
NM_000975.5(RPL11):c.264+12C>G
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.264+1G>A rs1553121795
NM_000975.5(RPL11):c.264+3G>A
NM_000975.5(RPL11):c.264+4A>T
NM_000975.5(RPL11):c.265-2A>G rs2124430919
NM_000975.5(RPL11):c.265-6C>T
NM_000975.5(RPL11):c.265-9dup
NM_000975.5(RPL11):c.268C>A (p.Arg90=)
NM_000975.5(RPL11):c.269G>A (p.Arg90Gln) rs757131066
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
NM_000975.5(RPL11):c.296_298del (p.Phe99del) rs1553121852
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
NM_000975.5(RPL11):c.299C>T (p.Ser100Leu)
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
NM_000975.5(RPL11):c.311del (p.Asn104fs)
NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
NM_000975.5(RPL11):c.33del (p.Met12fs)
NM_000975.5(RPL11):c.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.345G>A (p.Leu115=)
NM_000975.5(RPL11):c.360C>T (p.Asp120=)
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
NM_000975.5(RPL11):c.393T>C (p.Tyr131=)
NM_000975.5(RPL11):c.396+20del
NM_000975.5(RPL11):c.396+3A>G
NM_000975.5(RPL11):c.397-11_397-10delinsAT
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.400C>A (p.Leu134Met) rs1644529675
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
NM_000975.5(RPL11):c.437G>A (p.Arg146His)
NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
NM_000975.5(RPL11):c.463_508-69del
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.501_502delinsCT (p.Gln167_Gln168delinsHisTer)
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
NM_000975.5(RPL11):c.505A>G (p.Lys169Glu)
NM_000975.5(RPL11):c.507+16C>T
NM_000975.5(RPL11):c.508-12C>G
NM_000975.5(RPL11):c.508-14C>T
NM_000975.5(RPL11):c.508-17A>G
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-20_508-17del
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.508-3C>G
NM_000975.5(RPL11):c.508-7C>T
NM_000975.5(RPL11):c.508-9_508-5del
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
NM_000975.5(RPL11):c.53G>A (p.Arg18His)
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
NM_000975.5(RPL11):c.6+10T>A
NM_000975.5(RPL11):c.6+11G>C
NM_000975.5(RPL11):c.6+12G>C
NM_000975.5(RPL11):c.6+13G>T
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+18G>A
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+2T>C
NM_000975.5(RPL11):c.6+3G>A
NM_000975.5(RPL11):c.6+8G>T
NM_000975.5(RPL11):c.60C>G (p.Leu20=) rs2124429060
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.68A>G (p.Asn23Ser) rs2124429076
NM_000975.5(RPL11):c.7-10C>T rs773406981
NM_000975.5(RPL11):c.7-19C>T
NM_000975.5(RPL11):c.7-1G>T rs1644507858
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.7C>G (p.Gln3Glu)
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
NM_000975.5(RPL11):c.94A>C (p.Arg32=)
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
NM_000975.5(RPL11):c.9G>A (p.Gln3=)
NM_000981.4(RPL19):c.126G>C (p.Arg42=)
NM_000981.4(RPL19):c.190C>A (p.Arg64=) rs2228666
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.107A>T (p.Lys36Ile)
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) rs2151675473
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
NM_000987.5(RPL26):c.139A>G (p.Met47Val) rs2151675468
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) rs1193599772
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.168+4T>G
NM_000987.5(RPL26):c.169-16T>C
NM_000987.5(RPL26):c.169-19C>T
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
NM_000987.5(RPL26):c.196C>G (p.Gln66Glu)
NM_000987.5(RPL26):c.210A>G (p.Val70=)
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
NM_000987.5(RPL26):c.300C>T (p.His100=)
NM_000987.5(RPL26):c.309+13G>T
NM_000987.5(RPL26):c.309+13_309+14delinsCT
NM_000987.5(RPL26):c.309+18T>C
NM_000987.5(RPL26):c.309+7G>T
NM_000987.5(RPL26):c.310-16dup
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
NM_000987.5(RPL26):c.343C>T (p.Arg115Cys)
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
NM_000987.5(RPL26):c.358G>A (p.Glu120Lys)
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) rs1907207139
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) rs763691423
NM_000987.5(RPL26):c.367G>A (p.Ala123Thr)
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
NM_000987.5(RPL26):c.384A>T (p.Val128=) rs201307266
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
NM_000987.5(RPL26):c.72C>T (p.His24=)
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)
NM_000987.5(RPL26):c.86T>C (p.Ile29Thr)
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
NM_000996.4(RPL35A):c.165-16_166del
NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)
NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)
NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001011.4(RPS7):c.65_75+2delinsCTGG
NM_001011.4(RPS7):c.69C>T (p.Ile23=)
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.105G>A (p.Leu35=)
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
NM_001014.5(RPS10):c.112A>G (p.Lys38Glu)
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
NM_001014.5(RPS10):c.141G>C (p.Lys47Asn)
NM_001014.5(RPS10):c.150+17G>A
NM_001014.5(RPS10):c.150+6_150+8del
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.151-17A>G
NM_001014.5(RPS10):c.151-19G>A
NM_001014.5(RPS10):c.151-20A>G
NM_001014.5(RPS10):c.151-4A>G
NM_001014.5(RPS10):c.151-7C>T
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
NM_001014.5(RPS10):c.1A>G (p.Met1Val) rs2113806114
NM_001014.5(RPS10):c.201C>T (p.Phe67=) rs2113805419
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
NM_001014.5(RPS10):c.222G>A (p.Glu74=) rs1581931578
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
NM_001014.5(RPS10):c.268_275del (p.Val90fs)
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
NM_001014.5(RPS10):c.270G>A (p.Val90=)
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
NM_001014.5(RPS10):c.291C>T (p.Ser97=)
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
NM_001014.5(RPS10):c.294_314dup (p.Pro106_Lys107insGluThrGlyArgProArgPro) rs1765891593
NM_001014.5(RPS10):c.297A>G (p.Pro99=) rs2113805269
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
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.322+3A>G rs556255412
NM_001014.5(RPS10):c.322+5G>C
NM_001014.5(RPS10):c.323-18G>A
NM_001014.5(RPS10):c.323-19T>C rs1765779305
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
NM_001014.5(RPS10):c.34T>C (p.Tyr12His) rs2113806064
NM_001014.5(RPS10):c.354A>C (p.Thr118=)
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys) rs757956413
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp) rs752436029
NM_001014.5(RPS10):c.398C>T (p.Pro133Leu)
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.401-13T>A
NM_001014.5(RPS10):c.401-16A>T
NM_001014.5(RPS10):c.401-2A>G rs1765648528
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
NM_001014.5(RPS10):c.408C>A (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
NM_001014.5(RPS10):c.456+3_456+6del rs1765647224
NM_001014.5(RPS10):c.457-6T>C rs2113793989
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
NM_001014.5(RPS10):c.60C>G (p.Val20=)
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)
NM_001021.6(RPS17):c.126C>T (p.Pro42=)
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001021.6(RPS17):c.390G>A (p.Thr130=)
NM_001021.6(RPS17):c.39C>T (p.Ala13=)
NM_001021.6(RPS17):c.45C>T (p.Val15=)
NM_001021.6(RPS17):c.60del (p.Tyr21fs)
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-190C>G rs1053550637
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.-26C>T rs2074012484
NM_001022.4(RPS19):c.1-9C>T
NM_001022.4(RPS19):c.101del (p.Val34fs)
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
NM_001022.4(RPS19):c.14del (p.Thr5fs)
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
NM_001022.4(RPS19):c.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.169G>A (p.Ala57Thr)
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.172+14G>C
NM_001022.4(RPS19):c.172+17T>C
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.173-16C>T
NM_001022.4(RPS19):c.173-1G>T rs2123283622
NM_001022.4(RPS19):c.173-20C>G
NM_001022.4(RPS19):c.173-20C>T
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.173-6C>T
NM_001022.4(RPS19):c.173-8_173-7delinsTT rs2123283596
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu) rs1600621092
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
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.186_187del (p.His63fs)
NM_001022.4(RPS19):c.188A>C (p.His63Pro)
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
NM_001022.4(RPS19):c.198C>T (p.Leu66=) rs1275070186
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.1A>G (p.Met1Val) rs2123255913
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
NM_001022.4(RPS19):c.218G>T (p.Gly73Val)
NM_001022.4(RPS19):c.21del (p.Asp8fs)
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
NM_001022.4(RPS19):c.242G>A (p.Gly81Glu)
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
NM_001022.4(RPS19):c.24_31dup (p.Gln11delinsProTer)
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
NM_001022.4(RPS19):c.263T>C (p.Met88Thr)
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
NM_001022.4(RPS19):c.278G>C (p.Ser93Thr)
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
NM_001022.4(RPS19):c.280C>G (p.Arg94Gly)
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
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.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.302G>A (p.Arg101His) rs2123284131
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.308T>A (p.Val103Asp) rs1131691437
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)
NM_001022.4(RPS19):c.313C>T (p.Gln105Ter)
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.317C>T (p.Ala106Val) rs2074119741
NM_001022.4(RPS19):c.31C>T (p.Gln11Ter)
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
NM_001022.4(RPS19):c.320T>G (p.Leu107Arg)
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
NM_001022.4(RPS19):c.330G>A (p.Leu110=) rs2123284228
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)
NM_001022.4(RPS19):c.356+12A>G
NM_001022.4(RPS19):c.356+13G>T
NM_001022.4(RPS19):c.356+14A>C
NM_001022.4(RPS19):c.356+14delinsGG
NM_001022.4(RPS19):c.356+15G>A
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.356+18G>T rs61762294
NM_001022.4(RPS19):c.356+19G>A
NM_001022.4(RPS19):c.356+1G>A rs879993801
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.356+5G>A
NM_001022.4(RPS19):c.357-10C>T
NM_001022.4(RPS19):c.357-2A>G
NM_001022.4(RPS19):c.357-3C>A
NM_001022.4(RPS19):c.357-5C>G rs782129469
NM_001022.4(RPS19):c.357-9_357-5del
NM_001022.4(RPS19):c.357C>T (p.Gly119=)
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
NM_001022.4(RPS19):c.379G>A (p.Gly127Arg)
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
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.402C>T (p.Ile134=)
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.407dup (p.Gln137fs)
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg) rs782608155
NM_001022.4(RPS19):c.411+11C>T
NM_001022.4(RPS19):c.411+16G>C
NM_001022.4(RPS19):c.411+19G>A
NM_001022.4(RPS19):c.411+1G>A
NM_001022.4(RPS19):c.411+20T>G
NM_001022.4(RPS19):c.411+2_411+6del
NM_001022.4(RPS19):c.411+3A>G rs2123286000
NM_001022.4(RPS19):c.411+6G>T
NM_001022.4(RPS19):c.412-2A>G
NM_001022.4(RPS19):c.412-3C>T
NM_001022.4(RPS19):c.412-8_412-1dup rs2123290691
NM_001022.4(RPS19):c.413del (p.Val138fs)
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
NM_001022.4(RPS19):c.43G>A (p.Val15Ile)
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) rs2074021310
NM_001022.4(RPS19):c.57A>G (p.Ala19=) rs2123256237
NM_001022.4(RPS19):c.58G>T (p.Ala20Ser)
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) rs2123256254
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+18G>A
NM_001022.4(RPS19):c.71+1G>C rs2123256342
NM_001022.4(RPS19):c.71+6T>A rs2074021759
NM_001022.4(RPS19):c.71+9G>A
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001022.4(RPS19):c.72-15C>T
NM_001022.4(RPS19):c.72-1G>A rs146366047
NM_001022.4(RPS19):c.72-9T>A
NM_001022.4(RPS19):c.72G>T (p.Lys24Asn)
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
NM_001022.4(RPS19):c.90C>G (p.Val30=)
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_001023.4(RPS20):c.3+11_3+13delinsGGG
NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.312+1G>C
NM_001029.5(RPS26):c.313-2A>G
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.88del (p.Val30fs)
NM_001029.5(RPS26):c.99C>T (p.Asp33=)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785
NM_001035006.5(RPL17):c.167A>T (p.Gln56Leu)
NM_001035006.5(RPL17):c.217-3C>G
NM_001317782.2(RPL8):c.500-8_500-6delinsTCCCT
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg) rs2147307619
NM_002049.4(GATA1):c.1040G>A (p.Gly347Glu)
NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala)
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
NM_002049.4(GATA1):c.1059G>C (p.Leu353=) rs2147307659
NM_002049.4(GATA1):c.105dup (p.Ser36fs) rs1273620943
NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val) rs202091014
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
NM_002049.4(GATA1):c.1068C>G (p.Gly356=)
NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)
NM_002049.4(GATA1):c.1086T>C (p.His362=)
NM_002049.4(GATA1):c.1089C>A (p.Leu363=)
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter) rs1557020612
NM_002049.4(GATA1):c.1096G>A (p.Gly366Ser)
NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)
NM_002049.4(GATA1):c.1105C>A (p.Pro369Thr)
NM_002049.4(GATA1):c.1111G>A (p.Val371Met)
NM_002049.4(GATA1):c.1121G>A (p.Gly374Glu)
NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)
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.1160T>C (p.Leu387Pro)
NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)
NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro) rs2147307800
NM_002049.4(GATA1):c.1179C>T (p.Ser393=) rs781868016
NM_002049.4(GATA1):c.117G>A (p.Glu39=)
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
NM_002049.4(GATA1):c.1188A>C (p.Thr396=) rs2147307813
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
NM_002049.4(GATA1):c.1197G>A (p.Met399Ile)
NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)
NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)
NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)
NM_002049.4(GATA1):c.1204A>C (p.Thr402Pro)
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
NM_002049.4(GATA1):c.1218T>C (p.Thr406=)
NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu)
NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg)
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
NM_002049.4(GATA1):c.143C>A (p.Thr48Asn)
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr) rs781856701
NM_002049.4(GATA1):c.147C>A (p.Ala49=) rs2147305674
NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)
NM_002049.4(GATA1):c.149C>T (p.Pro50Leu)
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn) rs2062674054
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) rs2147305695
NM_002049.4(GATA1):c.160A>T (p.Thr54Ser)
NM_002049.4(GATA1):c.162_164del (p.Ala59del)
NM_002049.4(GATA1):c.164C>T (p.Ala55Val)
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.166G>A (p.Ala56Thr)
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.182_195del (p.Ala61fs)
NM_002049.4(GATA1):c.185_186insGGTGGCTGCAGCTGCGGCACTGGCCTA (p.Tyr62Ter)
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.196G>A (p.Ala66Thr)
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro) rs149753411
NM_002049.4(GATA1):c.19G>C (p.Gly7Arg)
NM_002049.4(GATA1):c.202G>A (p.Ala68Thr)
NM_002049.4(GATA1):c.207C>T (p.Tyr69=) rs1602219215
NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
NM_002049.4(GATA1):c.211C>T (p.His71Tyr) rs2147305769
NM_002049.4(GATA1):c.212A>C (p.His71Pro) rs374300356
NM_002049.4(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.4(GATA1):c.218C>G (p.Pro73Arg)
NM_002049.4(GATA1):c.21G>A (p.Gly7=)
NM_002049.4(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.4(GATA1):c.220+13A>C rs2147305801
NM_002049.4(GATA1):c.220+16G>A
NM_002049.4(GATA1):c.220+1G>A rs1569499366
NM_002049.4(GATA1):c.220+1G>C rs1569499366
NM_002049.4(GATA1):c.220+1G>T
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220+2T>C
NM_002049.4(GATA1):c.220+2dup
NM_002049.4(GATA1):c.220+5C>T
NM_002049.4(GATA1):c.220G>A (p.Val74Ile)
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.221-20T>A
NM_002049.4(GATA1):c.221-3C>T
NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)
NM_002049.4(GATA1):c.230T>G (p.Val77Gly) rs2147306078
NM_002049.4(GATA1):c.231G>A (p.Val77=)
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.4(GATA1):c.251T>C (p.Met84Thr)
NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)
NM_002049.4(GATA1):c.255G>A (p.Glu85=)
NM_002049.4(GATA1):c.256G>A (p.Gly86Arg)
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
NM_002049.4(GATA1):c.265G>A (p.Gly89Arg)
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
NM_002049.4(GATA1):c.290C>T (p.Ala97Val) rs2147306181
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.300G>C (p.Lys100Asn)
NM_002049.4(GATA1):c.303G>A (p.Thr101=)
NM_002049.4(GATA1):c.308T>C (p.Leu103Pro)
NM_002049.4(GATA1):c.322A>T (p.Thr108Ser)
NM_002049.4(GATA1):c.327G>A (p.Val109=)
NM_002049.4(GATA1):c.338G>A (p.Arg113His)
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu) rs782208453
NM_002049.4(GATA1):c.339C>T (p.Arg113=)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
NM_002049.4(GATA1):c.370C>A (p.Leu124Met)
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
NM_002049.4(GATA1):c.39G>A (p.Glu13=) rs2147305570
NM_002049.4(GATA1):c.3G>T (p.Met1Ile) rs2147305526
NM_002049.4(GATA1):c.402G>C (p.Glu134Asp)
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile) rs2147306456
NM_002049.4(GATA1):c.416A>G (p.Glu139Gly)
NM_002049.4(GATA1):c.41C>A (p.Pro14His)
NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)
NM_002049.4(GATA1):c.432C>T (p.Asp144=)
NM_002049.4(GATA1):c.446G>A (p.Gly149Glu)
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.4(GATA1):c.484G>A (p.Ala162Thr)
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) rs2062673523
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
NM_002049.4(GATA1):c.509G>A (p.Ser170Asn)
NM_002049.4(GATA1):c.510T>G (p.Ser170Arg)
NM_002049.4(GATA1):c.518T>G (p.Phe173Cys)
NM_002049.4(GATA1):c.51G>C (p.Gln17His)
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
NM_002049.4(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.4(GATA1):c.531G>A (p.Gly177=)
NM_002049.4(GATA1):c.548C>T (p.Ala183Val)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
NM_002049.4(GATA1):c.561T>C (p.Ser187=) rs2147306665
NM_002049.4(GATA1):c.572G>A (p.Arg191His)
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
NM_002049.4(GATA1):c.580C>G (p.Leu194Val)
NM_002049.4(GATA1):c.593C>T (p.Pro198Leu)
NM_002049.4(GATA1):c.595T>A (p.Cys199Ser)
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg) rs782750237
NM_002049.4(GATA1):c.598+14A>T
NM_002049.4(GATA1):c.599-16_599-14del rs782736246
NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)
NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.4(GATA1):c.658A>C (p.Thr220Pro)
NM_002049.4(GATA1):c.65C>G (p.Ala22Gly)
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
NM_002049.4(GATA1):c.685G>A (p.Gly229Ser)
NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)
NM_002049.4(GATA1):c.711G>A (p.Gln237=) rs1204529779
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
NM_002049.4(GATA1):c.725T>C (p.Ile242Thr)
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
NM_002049.4(GATA1):c.736A>C (p.Lys246Gln)
NM_002049.4(GATA1):c.737A>G (p.Lys246Arg)
NM_002049.4(GATA1):c.745-3T>C
NM_002049.4(GATA1):c.746T>C (p.Ile249Thr)
NM_002049.4(GATA1):c.748G>A (p.Val250Ile)
NM_002049.4(GATA1):c.752_754delinsTT (p.Ser251fs) rs1602220695
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
NM_002049.4(GATA1):c.758G>A (p.Arg253Gln)
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
NM_002049.4(GATA1):c.77C>G (p.Ser26Cys)
NM_002049.4(GATA1):c.788C>T (p.Thr263Met)
NM_002049.4(GATA1):c.797C>T (p.Thr266Met)
NM_002049.4(GATA1):c.80C>T (p.Thr27Ile)
NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)
NM_002049.4(GATA1):c.824G>C (p.Gly275Ala) rs1602220740
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
NM_002049.4(GATA1):c.840T>C (p.Asn280=)
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
NM_002049.4(GATA1):c.870+12C>A
NM_002049.4(GATA1):c.870+5C>T
NM_002049.4(GATA1):c.871-11C>T
NM_002049.4(GATA1):c.871-20C>T
NM_002049.4(GATA1):c.871G>A (p.Val291Met)
NM_002049.4(GATA1):c.876C>A (p.Asn292Lys)
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
NM_002049.4(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
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.911C>T (p.Thr304Ile)
NM_002049.4(GATA1):c.912T>A (p.Thr304=)
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys) rs1057518396
NM_002049.4(GATA1):c.920G>A (p.Arg307His) rs1557020556
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
NM_002049.4(GATA1):c.93G>T (p.Gly31=) rs368193049
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002049.4(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
NM_002049.4(GATA1):c.971C>T (p.Thr324Ile)
NM_002049.4(GATA1):c.976G>A (p.Ala326Thr)
NM_002049.4(GATA1):c.988C>T (p.Pro330Ser)
NM_002049.4(GATA1):c.98dup (p.Phe34fs) rs2062673787
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)
NM_033022.4(RPS24):c.11C>A (p.Thr4Asn)
NM_033022.4(RPS24):c.121C>T (p.Arg41Trp)
NM_033022.4(RPS24):c.13_14del (p.Val5fs) rs1589326484
NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
NM_033022.4(RPS24):c.156G>T (p.Pro52=) rs150157180
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
NM_033022.4(RPS24):c.165C>T (p.Ile55=) rs1589326814
NM_033022.4(RPS24):c.171A>T (p.Val57=)
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser) rs1554841961
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
NM_033022.4(RPS24):c.246A>C (p.Ala82=) rs1240034111
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
NM_033022.4(RPS24):c.279+14_279+18del
NM_033022.4(RPS24):c.279+17T>A
NM_033022.4(RPS24):c.279+18T>A
NM_033022.4(RPS24):c.279+20_279+27del rs763970487
NM_033022.4(RPS24):c.279+5G>T
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.280-14C>G
NM_033022.4(RPS24):c.280-17A>C
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.280C>T (p.His94Tyr)
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
NM_033022.4(RPS24):c.297G>A (p.Lys99=) rs1020277168
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)
NM_033022.4(RPS24):c.3+12T>C
NM_033022.4(RPS24):c.3+14G>C
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.320G>A (p.Arg107Gln)
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
NM_033022.4(RPS24):c.352_354del (p.Arg118del) rs1847891159
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.38T>G (p.Met13Arg)
NM_033022.4(RPS24):c.390+13A>C
NM_033022.4(RPS24):c.390+4T>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.4-3C>G
NM_033022.4(RPS24):c.4-3C>T
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro) rs199524789
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)
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=)
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe) rs775383590
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)
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
NM_198535.3(ZNF699):c.175+1G>A rs749115647

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