ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1006
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02247
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_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_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.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
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_000969.5(RPL5):c.3+12C>T rs200130961 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_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
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_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_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 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_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_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 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_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_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_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_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_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_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.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_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.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_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_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_001022.4(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.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_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.(?_24021140)_(24022863_?)del
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)_(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.(?_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_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.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.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.225C>G (p.Val75=) rs2100680579
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.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.272del (p.Gly91fs)
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly) rs2100680814
NM_000969.5(RPL5):c.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+18T>G
NM_000969.5(RPL5):c.3+19C>G
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+8C>A
NM_000969.5(RPL5):c.325-14G>A
NM_000969.5(RPL5):c.325-16T>C rs1687116560
NM_000969.5(RPL5):c.325-17A>G rs2100684491
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys) rs1686991615
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
NM_000969.5(RPL5):c.4-10T>A rs1686989669
NM_000969.5(RPL5):c.4-17A>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.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.479_480del (p.Phe160fs)
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.549T>C (p.Tyr183=)
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
NM_000969.5(RPL5):c.608dup (p.Asn203fs) rs2100688383
NM_000969.5(RPL5):c.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.626G>T (p.Arg209Leu)
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
NM_000969.5(RPL5):c.634dup (p.Met212fs) rs1687178005
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
NM_000969.5(RPL5):c.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.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+9dup
NM_000969.5(RPL5):c.74-15_74-13del rs2100676802
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.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.795-14C>A
NM_000969.5(RPL5):c.795-14C>G
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.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.889A>C (p.Ser297Arg)
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
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.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+7dup
NM_000975.5(RPL11):c.157+9T>G
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.158-7C>G rs768654673
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
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+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.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.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.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
NM_000975.5(RPL11):c.396+20del
NM_000975.5(RPL11):c.397-11_397-10delinsAT
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.478G>C (p.Glu160Gln)
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
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.508-2A>G rs1570569383
NM_000975.5(RPL11):c.508-3C>G
NM_000975.5(RPL11):c.508-7C>T
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
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+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+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_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.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.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.359A>G (p.Glu120Gly) rs1907207139
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) rs763691423
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_001014.5(RPS10):c.106G>A (p.Ala36Thr)
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
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.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.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.293G>A (p.Arg98His)
NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup) 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.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.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.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.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.98C>T (p.Pro33Leu)
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.101del (p.Val34fs)
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.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
NM_001022.4(RPS19):c.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.172+17T>C
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.182C>T (p.Ala61Val)
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.199C>T (p.Arg67Trp)
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
NM_001022.4(RPS19):c.308T>A (p.Val103Asp) rs1131691437
NM_001022.4(RPS19):c.317C>T (p.Ala106Val) rs2074119741
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
NM_001022.4(RPS19):c.330G>A (p.Leu110=) rs2123284228
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.356+12A>G
NM_001022.4(RPS19):c.356+13G>T
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+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.358G>A (p.Gly120Ser)
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
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>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
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+19G>A
NM_001022.4(RPS19):c.411+20T>G
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.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.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.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.75C>T (p.Ser25=) rs370343297
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_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.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.107C>T (p.Ser36Phe)
NM_002049.4(GATA1):c.1086T>C (p.His362=)
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.1111G>A (p.Val371Met)
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.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.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.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.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.21del (p.Ser8fs) rs1557020001
NM_002049.4(GATA1):c.220+13A>C rs2147305801
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+5C>T
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.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.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.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.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.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.510T>G (p.Ser170Arg)
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.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.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.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.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.752_754delinsTT (p.Ser251fs) rs1602220695
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
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.831C>T (p.Pro277=)
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
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.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.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.98dup (p.Phe34fs) rs2062673787
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)
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+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.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.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.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>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.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.97G>T (p.Ala33Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.