ClinVar Miner

List of variants in gene RBM20 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 1105
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.*2202C>T rs571001448 0.00510
NM_001134363.3(RBM20):c.*627_*628del rs34371891 0.00439
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.*3289C>T rs144896119 0.00310
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.*512G>T rs182895280 0.00249
NM_001134363.3(RBM20):c.*513A>T rs188211368 0.00249
NM_001134363.3(RBM20):c.*484C>G rs190879731 0.00247
NM_001134363.3(RBM20):c.*999A>G rs138114979 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.*1768C>T rs11195350 0.00155
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.*3197A>G rs545844933 0.00109
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001134363.3(RBM20):c.*2787A>T rs566666703 0.00068
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.*1867G>A rs149300217 0.00058
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001134363.3(RBM20):c.*1360G>A rs572337036 0.00048
NM_001134363.3(RBM20):c.*936T>A rs150308379 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.*1170G>A rs182850328 0.00034
NM_001134363.3(RBM20):c.*985G>C rs191479781 0.00033
NM_001134363.3(RBM20):c.*2148G>A rs886046717 0.00032
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506 0.00031
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001134363.3(RBM20):c.*800G>A rs557045846 0.00029
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg) rs558674954 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.*251A>T rs190896982 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001134363.3(RBM20):c.*1863A>G rs528368238 0.00019
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=) rs781373863 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) rs562882648 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) rs371181124 0.00014
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser) rs923358109 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.*263C>T rs182152382 0.00010
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) rs794729160 0.00010
NM_001134363.3(RBM20):c.*1666G>A rs886046715 0.00009
NM_001134363.3(RBM20):c.*2951T>C rs886046725 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.*941C>T rs548271514 0.00008
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) rs541330074 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.2239C>T (p.His747Tyr) rs535221986 0.00008
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His) rs986602724 0.00008
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=) rs575854668 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.*1452T>C rs906770120 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.*3004T>A rs3793704 0.00006
NM_001134363.3(RBM20):c.*3250A>G rs886046726 0.00006
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp) rs540962668 0.00006
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val) rs1024449251 0.00006
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly) rs758720475 0.00006
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg) rs878854252 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 0.00006
NM_001134363.3(RBM20):c.*2528C>A rs886046720 0.00005
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly) rs553309602 0.00005
NM_001134363.3(RBM20):c.*1619A>G rs927932901 0.00004
NM_001134363.3(RBM20):c.*3256C>T rs573002478 0.00004
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) rs1160693970 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His) rs762725902 0.00004
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=) rs929489764 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp) rs529403382 0.00004
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile) rs536357058 0.00004
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) rs1029261119 0.00004
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp) rs950962230 0.00004
NM_001134363.3(RBM20):c.2991G>A (p.Val997=) rs756276591 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 0.00004
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) rs772708424 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys) rs1171816793 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg) rs867232627 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln) rs561085365 0.00004
NM_001134363.3(RBM20):c.57G>T (p.Pro19=) rs781263787 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.*1517C>T rs886046714 0.00003
NM_001134363.3(RBM20):c.*1866C>T rs886046716 0.00003
NM_001134363.3(RBM20):c.*1919A>C rs1275431798 0.00003
NM_001134363.3(RBM20):c.*2054T>C rs867192062 0.00003
NM_001134363.3(RBM20):c.*3259G>A rs540217875 0.00003
NM_001134363.3(RBM20):c.*511G>A rs886046709 0.00003
NM_001134363.3(RBM20):c.*965G>A rs886046711 0.00003
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) rs1021465138 0.00003
NM_001134363.3(RBM20):c.1429+10G>T rs778742738 0.00003
NM_001134363.3(RBM20):c.1429G>T (p.Asp477Tyr) rs1004982001 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg) rs1439106449 0.00003
NM_001134363.3(RBM20):c.1934C>T (p.Pro645Leu) rs776297244 0.00003
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser) rs780673583 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu) rs1241224023 0.00003
NM_001134363.3(RBM20):c.408A>G (p.Gln136=) rs770818336 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser) rs1041725339 0.00003
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg) rs989951034 0.00003
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro) rs1064796938 0.00003
NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu) rs730880181 0.00002
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148 0.00002
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn) rs950210735 0.00002
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu) rs876657972 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) rs397516595 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val) rs947755400 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly) rs899167549 0.00002
NM_001134363.3(RBM20):c.2225C>G (p.Ser742Cys) rs985340296 0.00002
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys) rs770910910 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser) rs1361625543 0.00002
NM_001134363.3(RBM20):c.2599G>A (p.Gly867Ser) rs1218437735 0.00002
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met) rs947100716 0.00002
NM_001134363.3(RBM20):c.2815G>A (p.Asp939Asn) rs1442138837 0.00002
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly) rs1353948871 0.00002
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr) rs794729155 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met) rs1473408518 0.00002
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) rs794729158 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu) rs573426783 0.00002
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu) rs977645949 0.00002
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala) rs996172004 0.00002
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val) rs761557813 0.00002
NM_001134363.3(RBM20):c.832T>C (p.Phe278Leu) rs1014048064 0.00002
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp) rs1466787506 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001134363.3(RBM20):c.*1101T>G rs1259201107 0.00001
NM_001134363.3(RBM20):c.*2296A>C rs981333913 0.00001
NM_001134363.3(RBM20):c.*234T>C rs553497591 0.00001
NM_001134363.3(RBM20):c.*2576T>C rs1012545532 0.00001
NM_001134363.3(RBM20):c.*2737G>A rs886046721 0.00001
NM_001134363.3(RBM20):c.*2867G>A rs886046723 0.00001
NM_001134363.3(RBM20):c.*442G>A rs370248434 0.00001
NM_001134363.3(RBM20):c.-31T>C rs1192388291 0.00001
NM_001134363.3(RBM20):c.1002A>G (p.Thr334=) rs760124791 0.00001
NM_001134363.3(RBM20):c.1004C>T (p.Ala335Val) rs765185397 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys) rs794729142 0.00001
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=) rs749130573 0.00001
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser) rs998547889 0.00001
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln) rs878854247 0.00001
NM_001134363.3(RBM20):c.1136G>A (p.Gly379Glu) rs577020509 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.1160C>T (p.Ala387Val) rs919432113 0.00001
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) rs780367353 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser) rs932538273 0.00001
NM_001134363.3(RBM20):c.1276-8T>A rs886046704 0.00001
NM_001134363.3(RBM20):c.1279T>C (p.Trp427Arg) rs1844378725 0.00001
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del) rs1229525146 0.00001
NM_001134363.3(RBM20):c.1338-4C>G rs753677364 0.00001
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp) rs886039129 0.00001
NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu) rs1036333804 0.00001
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys) rs780583951 0.00001
NM_001134363.3(RBM20):c.1384G>A (p.Ala462Thr) rs1285889652 0.00001
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly) rs1330659380 0.00001
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg) rs775062085 0.00001
NM_001134363.3(RBM20):c.1429+1G>A rs1193393493 0.00001
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val) rs752506719 0.00001
NM_001134363.3(RBM20):c.1454C>T (p.Ser485Leu) rs764016326 0.00001
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu) rs912374533 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1498A>T (p.Thr500Ser) rs1452282601 0.00001
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala) rs1590677685 0.00001
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln) rs876657974 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu) rs993569055 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu) rs1030751538 0.00001
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn) rs1444950975 0.00001
NM_001134363.3(RBM20):c.1747G>A (p.Gly583Ser) rs1209985002 0.00001
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp) rs919402785 0.00001
NM_001134363.3(RBM20):c.1801-5G>T rs995878595 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1880+6G>T rs1210149101 0.00001
NM_001134363.3(RBM20):c.1881-1G>C rs1424661837 0.00001
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=) rs1482868696 0.00001
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly) rs1470779057 0.00001
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser) rs767451635 0.00001
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1908T>C (p.Arg636=) rs1428731969 0.00001
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) rs772991270 0.00001
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu) rs899383029 0.00001
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro) rs1275195637 0.00001
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=) rs1060504913 0.00001
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr) rs1051972948 0.00001
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr) rs763208424 0.00001
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg) rs1251592783 0.00001
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser) rs1279998131 0.00001
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp) rs1204905333 0.00001
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly) rs1475557145 0.00001
NM_001134363.3(RBM20):c.2038C>T (p.Pro680Ser) rs1387833836 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln) rs776778214 0.00001
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) rs550942448 0.00001
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val) rs1293517489 0.00001
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335 0.00001
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys) rs397516600 0.00001
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys) rs750763255 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro) rs567017513 0.00001
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala) rs967504449 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly) rs1161452943 0.00001
NM_001134363.3(RBM20):c.2193G>C (p.Arg731Ser) rs1475940613 0.00001
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro) rs1361123068 0.00001
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) rs1371567866 0.00001
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys) rs1463526980 0.00001
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp) rs781256531 0.00001
NM_001134363.3(RBM20):c.2287G>A (p.Glu763Lys) rs794729152 0.00001
NM_001134363.3(RBM20):c.2347A>G (p.Arg783Gly) rs1287523613 0.00001
NM_001134363.3(RBM20):c.2351G>T (p.Arg784Met) rs1359372013 0.00001
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys) rs957248353 0.00001
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) rs377259044 0.00001
NM_001134363.3(RBM20):c.2476A>C (p.Asn826His) rs1844793217 0.00001
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) rs371116877 0.00001
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) rs794727966 0.00001
NM_001134363.3(RBM20):c.2565A>C (p.Glu855Asp) rs878854250 0.00001
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro) rs1442388691 0.00001
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) rs368291152 0.00001
NM_001134363.3(RBM20):c.2676A>C (p.Glu892Asp) rs1447611071 0.00001
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys) rs112880805 0.00001
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val) rs1344144278 0.00001
NM_001134363.3(RBM20):c.27G>C (p.Gln9His) rs1157177960 0.00001
NM_001134363.3(RBM20):c.287C>T (p.Ala96Val) rs1195345503 0.00001
NM_001134363.3(RBM20):c.2942C>T (p.Pro981Leu) rs1460424271 0.00001
NM_001134363.3(RBM20):c.2960C>T (p.Ala987Val) rs1844910564 0.00001
NM_001134363.3(RBM20):c.299T>G (p.Leu100Arg) rs1060503417 0.00001
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp) rs397516610 0.00001
NM_001134363.3(RBM20):c.3025A>G (p.Lys1009Glu) rs1344905271 0.00001
NM_001134363.3(RBM20):c.303C>A (p.His101Gln) rs1172371194 0.00001
NM_001134363.3(RBM20):c.3040G>T (p.Glu1014Ter) rs1220240959 0.00001
NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr) rs730880186 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001134363.3(RBM20):c.3097G>A (p.Glu1033Lys) rs1564664608 0.00001
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly) rs878854251 0.00001
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr) rs890053031 0.00001
NM_001134363.3(RBM20):c.3167C>T (p.Ala1056Val) rs947120934 0.00001
NM_001134363.3(RBM20):c.3198C>T (p.Cys1066=) rs1844916348 0.00001
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs) rs1844916553 0.00001
NM_001134363.3(RBM20):c.321G>C (p.Gln107His) rs1413181007 0.00001
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) rs748335429 0.00001
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) rs959605686 0.00001
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=) rs772179438 0.00001
NM_001134363.3(RBM20):c.3317-10T>C rs772243422 0.00001
NM_001134363.3(RBM20):c.3440G>C (p.Ser1147Thr) rs542392971 0.00001
NM_001134363.3(RBM20):c.3452G>A (p.Gly1151Glu) rs1185476843 0.00001
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) rs1185476843 0.00001
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=) rs1395153921 0.00001
NM_001134363.3(RBM20):c.3494T>C (p.Leu1165Pro) rs1341670588 0.00001
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr) rs373480063 0.00001
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val) rs371754487 0.00001
NM_001134363.3(RBM20):c.352A>G (p.Thr118Ala) rs878854253 0.00001
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys) rs1338307495 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001134363.3(RBM20):c.359del (p.Leu120fs) rs1173576141 0.00001
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp) rs1159249168 0.00001
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) rs892459274 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.3655G>A (p.Val1219Met) rs374875207 0.00001
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His) rs1421547378 0.00001
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg) rs1057524087 0.00001
NM_001134363.3(RBM20):c.397C>G (p.Leu133Val) rs1446238793 0.00001
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser) rs1460527562 0.00001
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr) rs1387283537 0.00001
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr) rs1416612925 0.00001
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) rs1060503413 0.00001
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile) rs1214311876 0.00001
NM_001134363.3(RBM20):c.50A>T (p.Glu17Val) rs1443727983 0.00001
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001134363.3(RBM20):c.542G>A (p.Gly181Glu) rs1371208217 0.00001
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu) rs1321284191 0.00001
NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu) rs1185360800 0.00001
NM_001134363.3(RBM20):c.629C>T (p.Pro210Leu) rs1564843906 0.00001
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val) rs1189201346 0.00001
NM_001134363.3(RBM20):c.658G>A (p.Gly220Arg) rs1844340919 0.00001
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) rs794729140 0.00001
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) rs1033220280 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001134363.3(RBM20):c.691T>A (p.Tyr231Asn) rs1564843957 0.00001
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr) rs548382173 0.00001
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700 0.00001
NM_001134363.3(RBM20):c.762G>A (p.Ser254=) rs1175327119 0.00001
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) rs940901720 0.00001
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys) rs886046701 0.00001
NM_001134363.3(RBM20):c.793G>A (p.Gly265Arg) rs1237864932 0.00001
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu) rs1414387984 0.00001
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp) rs1324823773 0.00001
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys) rs1339836806 0.00001
NM_001134363.3(RBM20):c.967C>A (p.His323Asn) rs868524421 0.00001
GRCh37/hg19 10q25.2(chr10:112448209-112601330)x3
NC_000010.10:g.(?_112540539)_(112583392_?)del
NC_000010.10:g.(?_112579810)_(112595756_?)dup
NC_000010.11:g.(?_110820062)_(110835988_?)del
NM_001134363.3(RBM20):c.*1098dup rs886046712
NM_001134363.3(RBM20):c.*1166G>T rs952991912
NM_001134363.3(RBM20):c.*1201T>A rs886046713
NM_001134363.3(RBM20):c.*1723G>A rs770927031
NM_001134363.3(RBM20):c.*20A>T rs886046707
NM_001134363.3(RBM20):c.*222C>T rs1845126435
NM_001134363.3(RBM20):c.*2362_*2365del rs745346028
NM_001134363.3(RBM20):c.*2442G>A rs886046719
NM_001134363.3(RBM20):c.*2443C>G rs528082523
NM_001134363.3(RBM20):c.*2673A>C rs1272311496
NM_001134363.3(RBM20):c.*2749C>T rs986169450
NM_001134363.3(RBM20):c.*2839C>G rs886046722
NM_001134363.3(RBM20):c.*2925T>G rs886046724
NM_001134363.3(RBM20):c.*3296T>G rs886046727
NM_001134363.3(RBM20):c.*3427G>T rs1016358175
NM_001134363.3(RBM20):c.*552G>A rs74156303
NM_001134363.3(RBM20):c.*628T>G rs886046710
NM_001134363.3(RBM20):c.*72T>G rs886046708
NM_001134363.3(RBM20):c.-16G>T rs876657975
NM_001134363.3(RBM20):c.-1C>T
NM_001134363.3(RBM20):c.-2G>T
NM_001134363.3(RBM20):c.1001C>T (p.Thr334Ile)
NM_001134363.3(RBM20):c.1004C>G (p.Ala335Gly)
NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp)
NM_001134363.3(RBM20):c.1012A>G (p.Met338Val)
NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala)
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg) rs2134792790
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) rs372999896
NM_001134363.3(RBM20):c.1053C>A (p.Asp351Glu) rs192232825
NM_001134363.3(RBM20):c.1060G>C (p.Glu354Gln)
NM_001134363.3(RBM20):c.1063C>A (p.Pro355Thr)
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
NM_001134363.3(RBM20):c.1075_1076del (p.Arg359fs)
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile) rs1477743309
NM_001134363.3(RBM20):c.1092C>A (p.Phe364Leu)
NM_001134363.3(RBM20):c.1096G>T (p.Gly366Cys)
NM_001134363.3(RBM20):c.1097G>A (p.Gly366Asp) rs1201270166
NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val)
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
NM_001134363.3(RBM20):c.109_112del (p.Gly37fs) rs2134792820
NM_001134363.3(RBM20):c.1112G>T (p.Ser371Ile) rs2135044522
NM_001134363.3(RBM20):c.1118A>G (p.Gln373Arg)
NM_001134363.3(RBM20):c.1130G>A (p.Gly377Asp) rs1844353297
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
NM_001134363.3(RBM20):c.1148A>C (p.Lys383Thr)
NM_001134363.3(RBM20):c.1156C>A (p.Gln386Lys)
NM_001134363.3(RBM20):c.1156C>G (p.Gln386Glu)
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) rs794729143
NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter) rs1281593181
NM_001134363.3(RBM20):c.1164G>C (p.Leu388Phe) rs1844354317
NM_001134363.3(RBM20):c.1172T>G (p.Val391Gly) rs567118667
NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly)
NM_001134363.3(RBM20):c.1175G>C (p.Arg392Pro) rs751788298
NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr)
NM_001134363.3(RBM20):c.1177C>G (p.Pro393Ala) rs563411472
NM_001134363.3(RBM20):c.1178C>T (p.Pro393Leu)
NM_001134363.3(RBM20):c.1184A>G (p.Gln395Arg) rs2135044852
NM_001134363.3(RBM20):c.1189C>T (p.His397Tyr) rs2135044870
NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg) rs1861839858
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro) rs727505262
NM_001134363.3(RBM20):c.1196T>C (p.Leu399Pro) rs916046415
NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala) rs2134792879
NM_001134363.3(RBM20):c.1206dup (p.His403fs) rs1844355459
NM_001134363.3(RBM20):c.1207C>T (p.His403Tyr)
NM_001134363.3(RBM20):c.120G>T (p.Gly40=)
NM_001134363.3(RBM20):c.1210G>T (p.Gly404Cys) rs530925237
NM_001134363.3(RBM20):c.1214T>G (p.Val405Gly)
NM_001134363.3(RBM20):c.1217C>T (p.Ala406Val)
NM_001134363.3(RBM20):c.121A>T (p.Met41Leu)
NM_001134363.3(RBM20):c.1222del (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1223T>C (p.Leu408Pro)
NM_001134363.3(RBM20):c.1225C>T (p.His409Tyr)
NM_001134363.3(RBM20):c.1234C>A (p.His412Asn) rs2135045176
NM_001134363.3(RBM20):c.1242T>C (p.Cys414=) rs1844356957
NM_001134363.3(RBM20):c.1245C>G (p.Ser415Arg) rs1481843626
NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter)
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr) rs1060503412
NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg) rs1861840028
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1263G>A (p.Val421=) rs1844357538
NM_001134363.3(RBM20):c.1271T>C (p.Leu424Ser)
NM_001134363.3(RBM20):c.1275+6T>C
NM_001134363.3(RBM20):c.1276-3T>C
NM_001134363.3(RBM20):c.1277A>T (p.Asp426Val)
NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter)
NM_001134363.3(RBM20):c.1280G>A (p.Trp427Ter)
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
NM_001134363.3(RBM20):c.1289A>G (p.His430Arg) rs2135048055
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro) rs886046698
NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs)
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del) rs756342135
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup) rs756342135
NM_001134363.3(RBM20):c.1301A>G (p.Lys434Arg)
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser) rs939425427
NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr)
NM_001134363.3(RBM20):c.1316A>T (p.Lys439Ile) rs2135048113
NM_001134363.3(RBM20):c.1319G>C (p.Cys440Ser)
NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg)
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup) rs1861840424
NM_001134363.3(RBM20):c.1332del (p.Glu445fs)
NM_001134363.3(RBM20):c.1337+5G>A rs1844379788
NM_001134363.3(RBM20):c.1338-9C>G
NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr)
NM_001134363.3(RBM20):c.1340C>T (p.Ala447Val)
NM_001134363.3(RBM20):c.1345A>G (p.Ile449Val) rs1564845257
NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg)
NM_001134363.3(RBM20):c.1351T>C (p.Cys451Arg) rs2135049976
NM_001134363.3(RBM20):c.1352G>A (p.Cys451Tyr) rs1844393396
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.1357C>G (p.Leu453Val)
NM_001134363.3(RBM20):c.1358T>C (p.Leu453Pro)
NM_001134363.3(RBM20):c.1361G>T (p.Gly454Val)
NM_001134363.3(RBM20):c.1367C>T (p.Ala456Val)
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) rs1554886574
NM_001134363.3(RBM20):c.137C>A (p.Pro46Gln)
NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro)
NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup) rs878854248
NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile)
NM_001134363.3(RBM20):c.1401del (p.Ala468fs)
NM_001134363.3(RBM20):c.1402G>C (p.Ala468Pro)
NM_001134363.3(RBM20):c.1409A>G (p.Tyr470Cys)
NM_001134363.3(RBM20):c.140_145dup (p.Pro48_Gln49insProPro)
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del) rs1286990478
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup) rs1286990478
NM_001134363.3(RBM20):c.1429+6C>G rs2135050268
NM_001134363.3(RBM20):c.1432T>G (p.Tyr478Asp)
NM_001134363.3(RBM20):c.1444C>T (p.Leu482Phe) rs752506719
NM_001134363.3(RBM20):c.1448G>A (p.Gly483Glu) rs2135050974
NM_001134363.3(RBM20):c.1472C>T (p.Ala491Val) rs1844400398
NM_001134363.3(RBM20):c.147_164del (p.44PPPPPQ[1]) rs1273274801
NM_001134363.3(RBM20):c.1487A>T (p.Gln496Leu)
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
NM_001134363.3(RBM20):c.1502T>G (p.Phe501Cys)
NM_001134363.3(RBM20):c.1504C>G (p.Pro502Ala)
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) rs1861841498
NM_001134363.3(RBM20):c.1511C>T (p.Ala504Val) rs878854249
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met) rs1590677676
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg) rs727503386
NM_001134363.3(RBM20):c.151C>T (p.Pro51Ser) rs1861841530
NM_001134363.3(RBM20):c.1525A>G (p.Thr509Ala) rs1844401481
NM_001134363.3(RBM20):c.1526C>G (p.Thr509Ser)
NM_001134363.3(RBM20):c.1527+1G>A
NM_001134363.3(RBM20):c.1527+2del rs1554899451
NM_001134363.3(RBM20):c.1527+9G>A rs1057521554
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.1528T>C (p.Phe510Leu)
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup) rs1554886580
NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser)
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) rs2134793204
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met) rs1844567016
NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu)
NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser)
NM_001134363.3(RBM20):c.1590C>A (p.Cys530Ter) rs2135073795
NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp)
NM_001134363.3(RBM20):c.1598A>G (p.Asn533Ser) rs1309738508
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
NM_001134363.3(RBM20):c.1603G>T (p.Val535Phe)
NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val) rs869025505
NM_001134363.3(RBM20):c.160C>G (p.Pro54Ala) rs1861841938
NM_001134363.3(RBM20):c.160C>T (p.Pro54Ser)
NM_001134363.3(RBM20):c.1610A>G (p.Asn537Ser)
NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn)
NM_001134363.3(RBM20):c.1636A>G (p.Thr546Ala) rs2135073949
NM_001134363.3(RBM20):c.1643A>G (p.Tyr548Cys) rs1844568332
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)
NM_001134363.3(RBM20):c.1653G>A (p.Met551Ile) rs1844568460
NM_001134363.3(RBM20):c.1669-3T>G
NM_001134363.3(RBM20):c.1669G>A (p.Ala557Thr)
NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr)
NM_001134363.3(RBM20):c.1670C>A (p.Ala557Asp) rs1554901109
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr) rs999297099
NM_001134363.3(RBM20):c.1691C>T (p.Thr564Ile) rs1844598194
NM_001134363.3(RBM20):c.1694A>G (p.Glu565Gly)
NM_001134363.3(RBM20):c.1699G>A (p.Ala567Thr) rs1844598396
NM_001134363.3(RBM20):c.170G>A (p.Gly57Asp)
NM_001134363.3(RBM20):c.1711G>T (p.Val571Phe)
NM_001134363.3(RBM20):c.1723C>T (p.Gln575Ter)
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp)
NM_001134363.3(RBM20):c.1733C>G (p.Ser578Cys) rs1844599391
NM_001134363.3(RBM20):c.1735G>T (p.Ala579Ser)
NM_001134363.3(RBM20):c.1738G>A (p.Val580Met)
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser) rs890837429
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln) rs368716639
NM_001134363.3(RBM20):c.1766G>T (p.Arg589Leu)
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys) rs794729147
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) rs794729147
NM_001134363.3(RBM20):c.1775A>G (p.Lys592Arg) rs1844600546
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser) rs876657973
NM_001134363.3(RBM20):c.1787A>C (p.Glu596Ala) rs1554901133
NM_001134363.3(RBM20):c.1792C>T (p.Gln598Ter)
NM_001134363.3(RBM20):c.1800+1G>A rs1060503414
NM_001134363.3(RBM20):c.1800+4A>G rs1564850178
NM_001134363.3(RBM20):c.1804C>A (p.Pro602Thr) rs1057524451
NM_001134363.3(RBM20):c.1805C>A (p.Pro602His)
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr) rs1342793239
NM_001134363.3(RBM20):c.181A>G (p.Ile61Val)
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val) rs1844749476
NM_001134363.3(RBM20):c.1825A>G (p.Ile609Val)
NM_001134363.3(RBM20):c.1831C>T (p.Gln611Ter)
NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn)
NM_001134363.3(RBM20):c.184A>G (p.Ile62Val)
NM_001134363.3(RBM20):c.1850G>A (p.Arg617Lys) rs1844749902
NM_001134363.3(RBM20):c.1851G>C (p.Arg617Ser) rs1844749960
NM_001134363.3(RBM20):c.1855A>T (p.Arg619Trp)
NM_001134363.3(RBM20):c.1857G>T (p.Arg619Ser) rs1844750147
NM_001134363.3(RBM20):c.1861A>G (p.Met621Val)
NM_001134363.3(RBM20):c.1866C>G (p.Phe622Leu)
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1881-2A>G
NM_001134363.3(RBM20):c.1883A>G (p.Tyr628Cys) rs2135103547
NM_001134363.3(RBM20):c.1886G>T (p.Gly629Val) rs1844777305
NM_001134363.3(RBM20):c.188A>G (p.Gln63Arg) rs1564804235
NM_001134363.3(RBM20):c.1900C>G (p.Arg634Gly)
NM_001134363.3(RBM20):c.1903T>C (p.Ser635Pro) rs1844777857
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001134363.3(RBM20):c.1904C>T (p.Ser635Phe)
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del) rs794729163
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) rs794729149
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
NM_001134363.3(RBM20):c.1912C>G (p.Pro638Ala)
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met) rs1844778442
NM_001134363.3(RBM20):c.191del (p.Asn64fs)
NM_001134363.3(RBM20):c.192-3C>T
NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe)
NM_001134363.3(RBM20):c.1944C>A (p.His648Gln) rs1844779098
NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile)
NM_001134363.3(RBM20):c.1948C>T (p.Pro650Ser)
NM_001134363.3(RBM20):c.194C>G (p.Ala65Gly) rs1255136385
NM_001134363.3(RBM20):c.194C>T (p.Ala65Val)
NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe)
NM_001134363.3(RBM20):c.1969T>A (p.Ser657Thr)
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile)
NM_001134363.3(RBM20):c.1970C>G (p.Ser657Cys)
NM_001134363.3(RBM20):c.1984C>G (p.Pro662Ala)
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer) rs2135103989
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys)
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln)
NM_001134363.3(RBM20):c.1999G>A (p.Ala667Thr)
NM_001134363.3(RBM20):c.19A>G (p.Met7Val) rs1590590851
NM_001134363.3(RBM20):c.19A>T (p.Met7Leu) rs1590590851
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.2009G>A (p.Gly670Asp) rs2135104151
NM_001134363.3(RBM20):c.2019G>T (p.Arg673=) rs1844781108
NM_001134363.3(RBM20):c.201G>A (p.Lys67=) rs752370319
NM_001134363.3(RBM20):c.2024C>T (p.Ser675Phe) rs1844781292
NM_001134363.3(RBM20):c.2031G>T (p.Glu677Asp)
NM_001134363.3(RBM20):c.2033dup (p.His678fs) rs2135104270
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His) rs1257262328
NM_001134363.3(RBM20):c.2042del (p.Tyr681fs)
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter) rs376380567
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
NM_001134363.3(RBM20):c.2047A>G (p.Arg683Gly)
NM_001134363.3(RBM20):c.2051G>T (p.Arg684Met)
NM_001134363.3(RBM20):c.2053_2056del (p.Glu685fs)
NM_001134363.3(RBM20):c.2060del (p.Glu687fs)
NM_001134363.3(RBM20):c.2065G>A (p.Asp689Asn) rs1590695932
NM_001134363.3(RBM20):c.2067C>A (p.Asp689Glu)
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser) rs1844782261
NM_001134363.3(RBM20):c.2075C>T (p.Pro692Leu)
NM_001134363.3(RBM20):c.2084A>G (p.Asp695Gly) rs1036736581
NM_001134363.3(RBM20):c.2086A>G (p.Asn696Asp) rs1338107542
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser) rs1844782473
NM_001134363.3(RBM20):c.20T>C (p.Met7Thr)
NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu)
NM_001134363.3(RBM20):c.2109G>C (p.Arg703Ser) rs988797559
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn) rs995493100
NM_001134363.3(RBM20):c.2115C>A (p.Asp705Glu)
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg) rs1554842725
NM_001134363.3(RBM20):c.2119T>C (p.Trp707Arg)
NM_001134363.3(RBM20):c.2126A>G (p.His709Arg)
NM_001134363.3(RBM20):c.2131C>G (p.Arg711Gly) rs750763255
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His) rs1448017649
NM_001134363.3(RBM20):c.2132G>C (p.Arg711Pro) rs1448017649
NM_001134363.3(RBM20):c.2140C>T (p.His714Tyr) rs1844784087
NM_001134363.3(RBM20):c.2142C>A (p.His714Gln)
NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu) rs794729151
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile) rs1372553161
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr) rs876657976
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser) rs876657976
NM_001134363.3(RBM20):c.2176C>G (p.Arg726Gly)
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln) rs756116415
NM_001134363.3(RBM20):c.2182G>A (p.Glu728Lys)
NM_001134363.3(RBM20):c.2182G>T (p.Glu728Ter) rs1844785287
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del) rs876657977
NM_001134363.3(RBM20):c.2188G>A (p.Gly730Arg)
NM_001134363.3(RBM20):c.2188G>C (p.Gly730Arg) rs1844785438
NM_001134363.3(RBM20):c.2201G>C (p.Arg734Pro) rs372923744
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) rs1844785808
NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr)
NM_001134363.3(RBM20):c.2213C>G (p.Pro738Arg) rs397516601
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2216G>T (p.Arg739Ile)
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe) rs730880183
NM_001134363.3(RBM20):c.2239C>G (p.His747Asp)
NM_001134363.3(RBM20):c.2242T>C (p.Ser748Pro) rs2135105234
NM_001134363.3(RBM20):c.2255A>G (p.Tyr752Cys)
NM_001134363.3(RBM20):c.2263C>G (p.Arg755Gly)
NM_001134363.3(RBM20):c.2264G>T (p.Arg755Leu)
NM_001134363.3(RBM20):c.2280_2282dup (p.Arg761dup) rs1844787460
NM_001134363.3(RBM20):c.2284A>G (p.Lys762Glu)
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs) rs876657978
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His) rs1036485472
NM_001134363.3(RBM20):c.2294A>C (p.Lys765Thr) rs1395161859
NM_001134363.3(RBM20):c.2299A>C (p.Lys767Gln) rs775075323
NM_001134363.3(RBM20):c.2303C>A (p.Ser768Ter) rs1417635
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
NM_001134363.3(RBM20):c.2309A>G (p.Lys770Arg) rs1244728107
NM_001134363.3(RBM20):c.2312A>G (p.Tyr771Cys) rs2135105617
NM_001134363.3(RBM20):c.2315T>C (p.Leu772Pro)
NM_001134363.3(RBM20):c.2320CAG[2] (p.Gln776del)
NM_001134363.3(RBM20):c.2324_2358del (p.Gln775fs) rs1554842773
NM_001134363.3(RBM20):c.2331T>G (p.Asp777Glu) rs1428730678
NM_001134363.3(RBM20):c.2336C>T (p.Pro779Leu)
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) rs750988872
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp) rs750988872
NM_001134363.3(RBM20):c.2339G>A (p.Gly780Glu)
NM_001134363.3(RBM20):c.2343del (p.Arg781fs) rs1443137430
NM_001134363.3(RBM20):c.2350_2351delinsGT (p.Arg784Val) rs1844789808
NM_001134363.3(RBM20):c.2358C>A (p.Asp786Glu) rs1045844360
NM_001134363.3(RBM20):c.2360A>G (p.Glu787Gly) rs1844790155
NM_001134363.3(RBM20):c.2361G>C (p.Glu787Asp)
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser) rs765544509
NM_001134363.3(RBM20):c.2371C>G (p.Arg791Gly) rs529403382
NM_001134363.3(RBM20):c.2372G>A (p.Arg791Gln)
NM_001134363.3(RBM20):c.2374G>A (p.Glu792Lys) rs2135105925
NM_001134363.3(RBM20):c.2374dup (p.Glu792fs)
NM_001134363.3(RBM20):c.2378G>A (p.Ser793Asn)
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys)
NM_001134363.3(RBM20):c.2381G>C (p.Arg794Thr) rs893252924
NM_001134363.3(RBM20):c.2383C>A (p.His795Asn) rs2135105962
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln) rs781166982
NM_001134363.3(RBM20):c.2388_2393dup (p.795_796HP[3]) rs1564661327
NM_001134363.3(RBM20):c.2390A>T (p.His797Leu)
NM_001134363.3(RBM20):c.2395G>T (p.Asp799Tyr)
NM_001134363.3(RBM20):c.2396A>G (p.Asp799Gly)
NM_001134363.3(RBM20):c.2396A>T (p.Asp799Val)
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
NM_001134363.3(RBM20):c.2399A>T (p.Asp800Val)
NM_001134363.3(RBM20):c.2414A>T (p.Asp805Val) rs2135106050
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
NM_001134363.3(RBM20):c.2422G>T (p.Gly808Trp) rs1844791428
NM_001134363.3(RBM20):c.2434A>C (p.Thr812Pro) rs1564661367
NM_001134363.3(RBM20):c.2434A>T (p.Thr812Ser) rs1564661367
NM_001134363.3(RBM20):c.2435C>T (p.Thr812Ile)
NM_001134363.3(RBM20):c.2436_2442del (p.Arg813fs) rs1554842805
NM_001134363.3(RBM20):c.2437A>G (p.Arg813Gly) rs2135106132
NM_001134363.3(RBM20):c.2443_2454del (p.Pro815_Ala818del) rs2135106138
NM_001134363.3(RBM20):c.2450G>A (p.Gly817Asp)
NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp)
NM_001134363.3(RBM20):c.2477A>G (p.Asn826Ser) rs773581304
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly)
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del) rs1554842819
NM_001134363.3(RBM20):c.2513C>A (p.Ala838Asp)
NM_001134363.3(RBM20):c.2518del (p.Asp840fs) rs2135106385
NM_001134363.3(RBM20):c.2521del (p.Arg841fs) rs1590696621
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly) rs1844794265
NM_001134363.3(RBM20):c.2539G>A (p.Ala847Thr) rs1844794627
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val) rs1844794673
NM_001134363.3(RBM20):c.2545A>C (p.Asn849His)
NM_001134363.3(RBM20):c.2550+1G>A rs1844794840
NM_001134363.3(RBM20):c.2550+4A>G
NM_001134363.3(RBM20):c.2551-3A>G
NM_001134363.3(RBM20):c.2564A>T (p.Glu855Val)
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2566C>G (p.Gln856Glu)
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)
NM_001134363.3(RBM20):c.2575A>G (p.Met859Val) rs1844888587
NM_001134363.3(RBM20):c.2577G>A (p.Met859Ile)
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
NM_001134363.3(RBM20):c.2587C>T (p.Pro863Ser) rs367791037
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
NM_001134363.3(RBM20):c.2591A>G (p.Gln864Arg)
NM_001134363.3(RBM20):c.2592_2595del (p.Ser865fs) rs2135118733
NM_001134363.3(RBM20):c.259G>A (p.Ala87Thr)
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter) rs1861836936
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
NM_001134363.3(RBM20):c.2603G>T (p.Arg868Ile) rs1236252537
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter) rs1564663888
NM_001134363.3(RBM20):c.260C>T (p.Ala87Val)
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del) rs1236064535
NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr)
NM_001134363.3(RBM20):c.262A>G (p.Ser88Gly) rs1844329109
NM_001134363.3(RBM20):c.2632C>T (p.Pro878Ser)
NM_001134363.3(RBM20):c.2655+6G>C
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
NM_001134363.3(RBM20):c.2672G>A (p.Ser891Asn)
NM_001134363.3(RBM20):c.2675A>T (p.Glu892Val)
NM_001134363.3(RBM20):c.2678G>A (p.Ser893Asn) rs1336475076
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg) rs982286757
NM_001134363.3(RBM20):c.2692G>C (p.Glu898Gln)
NM_001134363.3(RBM20):c.2693A>G (p.Glu898Gly) rs1313871510
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
NM_001134363.3(RBM20):c.2714T>G (p.Met905Arg) rs1564664312
NM_001134363.3(RBM20):c.2715G>A (p.Met905Ile)
NM_001134363.3(RBM20):c.2716G>A (p.Glu906Lys) rs1554843516
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys) rs1564664325
NM_001134363.3(RBM20):c.2719G>T (p.Glu907Ter)
NM_001134363.3(RBM20):c.2720A>C (p.Glu907Ala) rs1554843517
NM_001134363.3(RBM20):c.2720_2725del (p.Glu907_Leu908del) rs2135120852
NM_001134363.3(RBM20):c.2721G>C (p.Glu907Asp)
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2726T>A (p.Val909Glu)
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del) rs876657979
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2730_2731inv (p.Val911Leu)
NM_001134363.3(RBM20):c.2731G>A (p.Val911Met) rs1590701521
NM_001134363.3(RBM20):c.2732T>C (p.Val911Ala) rs1590701525
NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu) rs368136394
NM_001134363.3(RBM20):c.2740G>C (p.Val914Leu) rs2135120928
NM_001134363.3(RBM20):c.2740G>T (p.Val914Phe)
NM_001134363.3(RBM20):c.2741T>A (p.Val914Asp) rs794729154
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala) rs794729154
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys) rs1844907124
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) rs1844907124
NM_001134363.3(RBM20):c.2752G>A (p.Glu918Lys)
NM_001134363.3(RBM20):c.2754A>C (p.Glu918Asp)
NM_001134363.3(RBM20):c.2758T>G (p.Phe920Val)
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) rs947100716
NM_001134363.3(RBM20):c.277C>T (p.Gln93Ter)
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) rs2135121046
NM_001134363.3(RBM20):c.2806G>T (p.Asp936Tyr)
NM_001134363.3(RBM20):c.2807A>G (p.Asp936Gly) rs1225927754
NM_001134363.3(RBM20):c.2819A>G (p.Lys940Arg) rs886046705
NM_001134363.3(RBM20):c.2833A>T (p.Thr945Ser) rs2135121107
NM_001134363.3(RBM20):c.2840T>C (p.Leu947Pro)
NM_001134363.3(RBM20):c.2843G>A (p.Cys948Tyr)
NM_001134363.3(RBM20):c.2845G>T (p.Val949Leu) rs1844908453
NM_001134363.3(RBM20):c.2849C>G (p.Thr950Arg)
NM_001134363.3(RBM20):c.2853C>T (p.Thr951=) rs1844908621
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile) rs727503390
NM_001134363.3(RBM20):c.2858T>C (p.Leu953Ser)
NM_001134363.3(RBM20):c.2860G>C (p.Asp954His) rs1554843534
NM_001134363.3(RBM20):c.2866G>C (p.Asp956His)
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu) rs1554843535
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg) rs2135121307
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu) rs369747752
NM_001134363.3(RBM20):c.2912A>G (p.Asn971Ser)
NM_001134363.3(RBM20):c.2917G>T (p.Ala973Ser)
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
NM_001134363.3(RBM20):c.2930G>A (p.Ser977Asn) rs1844910126
NM_001134363.3(RBM20):c.2936A>G (p.Lys979Arg) rs1844910226
NM_001134363.3(RBM20):c.2938T>C (p.Ser980Pro)
NM_001134363.3(RBM20):c.2941C>G (p.Pro981Ala)
NM_001134363.3(RBM20):c.2944A>G (p.Arg982Gly)
NM_001134363.3(RBM20):c.2945G>T (p.Arg982Ile) rs1387852539
NM_001134363.3(RBM20):c.2971T>C (p.Cys991Arg) rs2135121541
NM_001134363.3(RBM20):c.2975C>G (p.Pro992Arg) rs1844911019
NM_001134363.3(RBM20):c.2981A>T (p.Asp994Val)
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
NM_001134363.3(RBM20):c.2988C>A (p.Asp996Glu) rs1249673177
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu) rs372370653
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) rs1590673852
NM_001134363.3(RBM20):c.2990T>C (p.Val997Ala)
NM_001134363.3(RBM20):c.3011T>G (p.Leu1004Arg)
NM_001134363.3(RBM20):c.3015T>G (p.Asp1005Glu)
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
NM_001134363.3(RBM20):c.302A>G (p.His101Arg)
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr) rs727503391
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp) rs540014314
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3053C>T (p.Ser1018Phe) rs2135121918
NM_001134363.3(RBM20):c.3053_3056del (p.Ser1018fs) rs770955344
NM_001134363.3(RBM20):c.3056T>C (p.Leu1019Pro)
NM_001134363.3(RBM20):c.3056T>G (p.Leu1019Arg)
NM_001134363.3(RBM20):c.3071G>C (p.Cys1024Ser)
NM_001134363.3(RBM20):c.3076G>C (p.Glu1026Gln)
NM_001134363.3(RBM20):c.3088A>C (p.Lys1030Gln)
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter) rs794729157
NM_001134363.3(RBM20):c.3098A>G (p.Glu1033Gly) rs1844914032
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn) rs891835279
NM_001134363.3(RBM20):c.3116C>T (p.Pro1039Leu) rs2135122079
NM_001134363.3(RBM20):c.3122C>G (p.Pro1041Arg)
NM_001134363.3(RBM20):c.3124A>G (p.Thr1042Ala) rs1844914479
NM_001134363.3(RBM20):c.3128T>C (p.Val1043Ala) rs2135122123
NM_001134363.3(RBM20):c.3134A>G (p.Gln1045Arg) rs2135122152
NM_001134363.3(RBM20):c.3137T>G (p.Met1046Arg)
NM_001134363.3(RBM20):c.3146del (p.Pro1049fs)
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val) rs1276115385
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp) rs886046706
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3172C>A (p.Gln1058Lys)
NM_001134363.3(RBM20):c.3173A>G (p.Gln1058Arg) rs1844915728
NM_001134363.3(RBM20):c.317C>T (p.Ala106Val)
NM_001134363.3(RBM20):c.318_326del (p.Gln107_Ala109del) rs1054494691
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del) rs1554898774
NM_001134363.3(RBM20):c.3190G>T (p.Asp1064Tyr)
NM_001134363.3(RBM20):c.3198C>G (p.Cys1066Trp)
NM_001134363.3(RBM20):c.3201G>T (p.Lys1067Asn)
NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala)
NM_001134363.3(RBM20):c.3218A>C (p.Glu1073Ala)
NM_001134363.3(RBM20):c.3220G>T (p.Asp1074Tyr)
NM_001134363.3(RBM20):c.3240C>A (p.Ser1080Arg) rs1217393739
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
NM_001134363.3(RBM20):c.3244del (p.Leu1082fs)
NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro) rs878854252
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3262C>T (p.Pro1088Ser) rs969716149
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3265C>T (p.Pro1089Ser) rs147356378
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His) rs772708424
NM_001134363.3(RBM20):c.3266C>T (p.Pro1089Leu) rs772708424
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134363.3(RBM20):c.3269T>A (p.Ile1090Asn)
NM_001134363.3(RBM20):c.3269T>C (p.Ile1090Thr) rs1316833587
NM_001134363.3(RBM20):c.3277G>A (p.Asp1093Asn) rs1844919019
NM_001134363.3(RBM20):c.3277G>T (p.Asp1093Tyr) rs1844919019
NM_001134363.3(RBM20):c.3280C>A (p.Leu1094Ile)
NM_001134363.3(RBM20):c.3280C>G (p.Leu1094Val)
NM_001134363.3(RBM20):c.3283C>T (p.Gln1095Ter)
NM_001134363.3(RBM20):c.3296G>T (p.Cys1099Phe)
NM_001134363.3(RBM20):c.32C>T (p.Ala11Val) rs794726895
NM_001134363.3(RBM20):c.3304G>A (p.Val1102Met)
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)
NM_001134363.3(RBM20):c.3305T>C (p.Val1102Ala)
NM_001134363.3(RBM20):c.3316+1G>A
NM_001134363.3(RBM20):c.3329A>T (p.Tyr1110Phe) rs1844943542
NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile)
NM_001134363.3(RBM20):c.3330C>G (p.Tyr1110Ter) rs991930637
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3332T>C (p.Val1111Ala) rs2135125770
NM_001134363.3(RBM20):c.3339G>A (p.Met1113Ile)
NM_001134363.3(RBM20):c.3347T>C (p.Leu1116Pro)
NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu)
NM_001134363.3(RBM20):c.3365A>G (p.Glu1122Gly) rs762399453
NM_001134363.3(RBM20):c.3367T>G (p.Tyr1123Asp)
NM_001134363.3(RBM20):c.336C>T (p.Asn112=)
NM_001134363.3(RBM20):c.3382C>G (p.Leu1128Val)
NM_001134363.3(RBM20):c.3383dup (p.Lys1129fs)
NM_001134363.3(RBM20):c.338A>C (p.Asn113Thr)
NM_001134363.3(RBM20):c.3394C>G (p.Leu1132Val) rs1554843750
NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe)
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
NM_001134363.3(RBM20):c.3403C>T (p.Pro1135Ser)
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
NM_001134363.3(RBM20):c.3424G>A (p.Val1142Met) rs1057519239
NM_001134363.3(RBM20):c.3424G>T (p.Val1142Leu)
NM_001134363.3(RBM20):c.3425T>C (p.Val1142Ala)
NM_001134363.3(RBM20):c.3427T>C (p.Phe1143Leu)
NM_001134363.3(RBM20):c.3440G>A (p.Ser1147Asn)
NM_001134363.3(RBM20):c.3442A>G (p.Ile1148Val)
NM_001134363.3(RBM20):c.3451+3A>G rs1844945720
NM_001134363.3(RBM20):c.3451+5G>A rs2135126064
NM_001134363.3(RBM20):c.3452-2del rs1845044801
NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly)
NM_001134363.3(RBM20):c.3473G>C (p.Arg1158Thr)
NM_001134363.3(RBM20):c.3476C>A (p.Thr1159Asn)
NM_001134363.3(RBM20):c.347C>T (p.Ala116Val)
NM_001134363.3(RBM20):c.3480del (p.Tyr1162fs)
NM_001134363.3(RBM20):c.3482T>A (p.Phe1161Tyr)
NM_001134363.3(RBM20):c.3485A>G (p.Tyr1162Cys)
NM_001134363.3(RBM20):c.3485A>T (p.Tyr1162Phe) rs1845045632
NM_001134363.3(RBM20):c.3488G>A (p.Cys1163Tyr)
NM_001134363.3(RBM20):c.3489C>A (p.Cys1163Ter) rs1395153921
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.349G>T (p.Ala117Ser) rs373480063
NM_001134363.3(RBM20):c.3501G>T (p.Gly1167=) rs1845046064
NM_001134363.3(RBM20):c.3505T>C (p.Phe1169Leu)
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys) rs371181124
NM_001134363.3(RBM20):c.3512C>G (p.Thr1171Arg) rs371181124
NM_001134363.3(RBM20):c.3515G>A (p.Ser1172Asn) rs1165657860
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001134363.3(RBM20):c.3532A>G (p.Met1178Val)
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile) rs2135041252
NM_001134363.3(RBM20):c.3545G>C (p.Arg1182Pro) rs563762318
NM_001134363.3(RBM20):c.3551C>T (p.Ala1184Val) rs2135138718
NM_001134363.3(RBM20):c.3556C>T (p.His1186Tyr)
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg) rs1845047234
NM_001134363.3(RBM20):c.3560A>G (p.Tyr1187Cys)
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser) rs1060503416
NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)
NM_001134363.3(RBM20):c.3566A>T (p.Asn1189Ile)
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe) rs753102653
NM_001134363.3(RBM20):c.3586C>T (p.Gln1196Ter) rs1845119781
NM_001134363.3(RBM20):c.3592_3612dup (p.Ala1198_Glu1204dup) rs2135147884
NM_001134363.3(RBM20):c.3594_3623dup (p.Glu1199_Ala1208dup) rs1554844950
NM_001134363.3(RBM20):c.3597G>C (p.Glu1199Asp) rs1177544843
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val) rs887276458
NM_001134363.3(RBM20):c.3610G>A (p.Glu1204Lys)
NM_001134363.3(RBM20):c.3612G>T (p.Glu1204Asp) rs1845120577
NM_001134363.3(RBM20):c.3622G>T (p.Ala1208Ser)
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001134363.3(RBM20):c.363C>G (p.Asn121Lys)
NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly)
NM_001134363.3(RBM20):c.3649G>C (p.Gly1217Arg)
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu) rs727504583
NM_001134363.3(RBM20):c.3659del (p.Pro1220fs) rs1485325927
NM_001134363.3(RBM20):c.365A>C (p.Gln122Pro)
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu)
NM_001134363.3(RBM20):c.3669A>T (p.Glu1223Asp) rs1290645091
NM_001134363.3(RBM20):c.369C>A (p.Val123=)
NM_001134363.3(RBM20):c.371T>C (p.Leu124Pro)
NM_001134363.3(RBM20):c.380T>C (p.Val127Ala)
NM_001134363.3(RBM20):c.383C>T (p.Ala128Val)
NM_001134363.3(RBM20):c.409C>G (p.Leu137Val) rs876657570
NM_001134363.3(RBM20):c.419C>A (p.Pro140Gln)
NM_001134363.3(RBM20):c.425T>C (p.Val142Ala) rs1844333085
NM_001134363.3(RBM20):c.436C>T (p.Pro146Ser)
NM_001134363.3(RBM20):c.437C>T (p.Pro146Leu) rs2135041549
NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser) rs559040957
NM_001134363.3(RBM20):c.440A>G (p.His147Arg)
NM_001134363.3(RBM20):c.441C>A (p.His147Gln) rs397516619
NM_001134363.3(RBM20):c.452G>A (p.Gly151Glu)
NM_001134363.3(RBM20):c.454G>T (p.Val152Phe)
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu)
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) rs2135041646
NM_001134363.3(RBM20):c.464A>T (p.His155Leu) rs1844333730
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) rs1231520936
NM_001134363.3(RBM20):c.478C>T (p.Pro160Ser)
NM_001134363.3(RBM20):c.490T>G (p.Phe164Val)
NM_001134363.3(RBM20):c.4G>T (p.Val2Leu) rs2134792471
NM_001134363.3(RBM20):c.502G>A (p.Ala168Thr)
NM_001134363.3(RBM20):c.503C>T (p.Ala168Val)
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) rs2135041793
NM_001134363.3(RBM20):c.508G>A (p.Ala170Thr)
NM_001134363.3(RBM20):c.508G>C (p.Ala170Pro)
NM_001134363.3(RBM20):c.509C>A (p.Ala170Asp)
NM_001134363.3(RBM20):c.514dup (p.Ser172fs)
NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser)
NM_001134363.3(RBM20):c.520C>A (p.Pro174Thr)
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu)
NM_001134363.3(RBM20):c.522del (p.Ser175fs) rs1844336329
NM_001134363.3(RBM20):c.522dup (p.Ser175fs)
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) rs553309602
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) rs183130427
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter) rs794729161
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro) rs561085365
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val) rs2135041998
NM_001134363.3(RBM20):c.539C>A (p.Pro180His)
NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser)
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr) rs2135042080
NM_001134363.3(RBM20):c.556C>T (p.Leu186Phe)
NM_001134363.3(RBM20):c.559C>G (p.Pro187Ala)
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg) rs727504766
NM_001134363.3(RBM20):c.578C>G (p.Ala193Gly)
NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr) rs2134792632
NM_001134363.3(RBM20):c.580A>G (p.Met194Val) rs2135042187
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
NM_001134363.3(RBM20):c.593C>A (p.Pro198His)
NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala)
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503
NM_001134363.3(RBM20):c.632C>T (p.Ala211Val)
NM_001134363.3(RBM20):c.639C>G (p.Ile213Met)
NM_001134363.3(RBM20):c.659G>A (p.Gly220Glu) rs2135042457
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val) rs2135042487
NM_001134363.3(RBM20):c.680G>A (p.Gly227Glu) rs202238753
NM_001134363.3(RBM20):c.688G>T (p.Glu230Ter) rs2135042638
NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly)
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val) rs925693368
NM_001134363.3(RBM20):c.700G>A (p.Ala234Thr) rs1554898862
NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro)
NM_001134363.3(RBM20):c.705C>A (p.Ser235Arg) rs1257780371
NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser) rs1371624996
NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg) rs1371624996
NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp)
NM_001134363.3(RBM20):c.719A>G (p.Tyr240Cys)
NM_001134363.3(RBM20):c.722G>T (p.Gly241Val) rs1844342727
NM_001134363.3(RBM20):c.736G>T (p.Gly246Cys)
NM_001134363.3(RBM20):c.741G>T (p.Gln247His)
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val) rs397516623
NM_001134363.3(RBM20):c.767C>T (p.Ser256Leu)
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg)
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065
NM_001134363.3(RBM20):c.807C>G (p.His269Gln)
NM_001134363.3(RBM20):c.809C>T (p.Thr270Ile)
NM_001134363.3(RBM20):c.80C>A (p.Pro27His)
NM_001134363.3(RBM20):c.812G>A (p.Gly271Glu) rs1055998681
NM_001134363.3(RBM20):c.817G>C (p.Asp273His)
NM_001134363.3(RBM20):c.820G>A (p.Gly274Ser)
NM_001134363.3(RBM20):c.829G>A (p.Ala277Thr) rs894218251
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg) rs2135043435
NM_001134363.3(RBM20):c.843T>A (p.Asp281Glu)
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val) rs2135043456
NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr)
NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu)
NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser)
NM_001134363.3(RBM20):c.860C>T (p.Ser287Phe) rs1844346532
NM_001134363.3(RBM20):c.864A>T (p.Gln288His)
NM_001134363.3(RBM20):c.870A>G (p.Ser290=) rs1554898912
NM_001134363.3(RBM20):c.874G>T (p.Val292Leu) rs886046702
NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del) rs2134792690
NM_001134363.3(RBM20):c.880A>G (p.Ser294Gly) rs1844347006
NM_001134363.3(RBM20):c.882C>A (p.Ser294Arg) rs374921844
NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly)
NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro) rs1861838722
NM_001134363.3(RBM20):c.901del (p.Ala301fs) rs1844347315
NM_001134363.3(RBM20):c.902C>T (p.Ala301Val)
NM_001134363.3(RBM20):c.907G>A (p.Gly303Ser)
NM_001134363.3(RBM20):c.914A>C (p.Lys305Thr)
NM_001134363.3(RBM20):c.917G>C (p.Ser306Thr) rs1844347766
NM_001134363.3(RBM20):c.922G>A (p.Val308Ile) rs1590674817
NM_001134363.3(RBM20):c.928_935dup (p.Gln313fs)
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
NM_001134363.3(RBM20):c.934C>A (p.Leu312Met) rs1164333931
NM_001134363.3(RBM20):c.950G>A (p.Ser317Asn) rs1844348749
NM_001134363.3(RBM20):c.956G>A (p.Trp319Ter)
NM_001134363.3(RBM20):c.968A>G (p.His323Arg) rs568559249
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu)
NM_001134363.3(RBM20):c.980G>A (p.Gly327Asp)
NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter)
NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg)
NM_001134363.3(RBM20):c.98del (p.Pro33fs) rs1413443268
NM_001134363.3(RBM20):c.991C>T (p.Pro331Ser)

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