ClinVar Miner

List of variants in gene RBM20 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
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.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
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.153G>T (p.Pro51=) rs760605118 0.00083
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) rs116442272 0.00063
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.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
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.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.114G>T (p.Pro38=) rs571013198 0.00027
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744 0.00026
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.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
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.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 0.00014
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.1050C>T (p.Tyr350=) rs778124998 0.00013
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.3177A>G (p.Pro1059=) rs562290651 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.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) rs794729160 0.00010
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) rs751775695 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) rs541330074 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.3279C>T (p.Asp1093=) rs1003478669 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.7C>T (p.Leu3=) rs993059293 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
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.882C>T (p.Ser294=) rs374921844 0.00007
NM_001134363.3(RBM20):c.1113C>T (p.Ser371=) rs747651241 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.2736C>T (p.Asp912=) rs368136394 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.3462C>T (p.Phe1154=) rs371172286 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001134363.3(RBM20):c.2691G>A (p.Gly897=) rs549274248 0.00005
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134363.3(RBM20):c.3273A>G (p.Glu1091=) rs886458288 0.00005
NM_001134363.3(RBM20):c.399C>T (p.Leu133=) rs746776894 0.00005
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly) rs553309602 0.00005
NM_001134363.3(RBM20):c.540C>T (p.Pro180=) rs576099332 0.00005
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.1458C>T (p.Tyr486=) rs397516594 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.1791G>A (p.Leu597=) rs201432122 0.00004
NM_001134363.3(RBM20):c.1806C>T (p.Pro602=) rs367567507 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 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.247C>A (p.Leu83Ile) rs536357058 0.00004
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) rs1029261119 0.00004
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 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.3204C>G (p.Thr1068=) rs746444255 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.3594C>T (p.Ala1198=) rs758908115 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 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.441C>T (p.His147=) rs397516619 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.801C>T (p.Tyr267=) rs879437834 0.00004
NM_001134363.3(RBM20):c.933G>C (p.Leu311=) rs761015603 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) rs1021465138 0.00003
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met) rs763101142 0.00003
NM_001134363.3(RBM20):c.1221C>G (p.Pro407=) rs1243243290 0.00003
NM_001134363.3(RBM20):c.1308C>T (p.His436=) rs189600634 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134363.3(RBM20):c.168C>T (p.Ala56=) rs1424130999 0.00003
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001134363.3(RBM20):c.2043T>C (p.Tyr681=) rs376380567 0.00003
NM_001134363.3(RBM20):c.2076C>T (p.Pro692=) rs940799642 0.00003
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 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.3189G>A (p.Val1063=) rs1179002998 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.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser) rs1041725339 0.00003
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.1209C>T (p.His403=) rs397516592 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.1545G>C (p.Gly515=) rs1208880928 0.00002
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) rs761674598 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.1953C>T (p.Ser651=) rs1464394104 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.2709T>A (p.Thr903=) rs1481403925 0.00002
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met) rs947100716 0.00002
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly) rs1353948871 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.3216C>T (p.Pro1072=) rs370346662 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.3615C>T (p.Thr1205=) rs1290529555 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.83G>A (p.Gly28Asp) rs1466787506 0.00002
NM_001134363.3(RBM20):c.978G>A (p.Ser326=) rs930912173 0.00002
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.1162T>C (p.Leu388=) rs1047268912 0.00001
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) rs780367353 0.00001
NM_001134363.3(RBM20):c.1200C>T (p.Asn400=) rs1291756505 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.126G>A (p.Gln42=) rs925187151 0.00001
NM_001134363.3(RBM20):c.1290T>C (p.His430=) rs1298729197 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp) rs886039129 0.00001
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys) rs780583951 0.00001
NM_001134363.3(RBM20):c.1380G>A (p.Leu460=) rs757011562 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.1444C>G (p.Leu482Val) rs752506719 0.00001
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu) rs912374533 0.00001
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala) rs1590677685 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.1554T>A (p.Arg518=) rs1237509064 0.00001
NM_001134363.3(RBM20):c.1593T>A (p.Thr531=) rs955486548 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1701A>G (p.Ala567=) rs557873670 0.00001
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu) rs1030751538 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.1830C>A (p.Ile610=) rs1043758571 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 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.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) rs772991270 0.00001
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=) rs184428735 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.1982C>G (p.Pro661Arg) rs1251592783 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.2031G>A (p.Glu677=) rs1177135320 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.2131C>T (p.Arg711Cys) rs750763255 0.00001
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=) rs368933889 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.219A>G (p.Pro73=) rs1355159778 0.00001
NM_001134363.3(RBM20):c.2271C>T (p.Asp757=) rs1168255004 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.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001134363.3(RBM20):c.2388C>G (p.Pro796=) rs1057522796 0.00001
NM_001134363.3(RBM20):c.2436T>A (p.Thr812=) rs748814058 0.00001
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) rs377259044 0.00001
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) rs371116877 0.00001
NM_001134363.3(RBM20):c.2616A>G (p.Glu872=) rs1356159353 0.00001
NM_001134363.3(RBM20):c.261C>T (p.Ala87=) rs886038415 0.00001
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) rs368291152 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.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.294C>G (p.Leu98=) rs1590673849 0.00001
NM_001134363.3(RBM20):c.303C>A (p.His101Gln) rs1172371194 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001134363.3(RBM20):c.3096G>A (p.Val1032=) rs768655519 0.00001
NM_001134363.3(RBM20):c.3099G>A (p.Glu1033=) rs1463977943 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.321G>C (p.Gln107His) rs1413181007 0.00001
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) rs748335429 0.00001
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=) rs991930637 0.00001
NM_001134363.3(RBM20):c.3402G>A (p.Leu1134=) rs1437581340 0.00001
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr) rs373480063 0.00001
NM_001134363.3(RBM20):c.3516C>T (p.Ser1172=) rs781463840 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.3662G>A (p.Arg1221His) rs1421547378 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.420G>A (p.Pro140=) rs776692347 0.00001
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) rs1060503413 0.00001
NM_001134363.3(RBM20):c.468T>A (p.Ala156=) rs115379805 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) rs794729140 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 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.822T>C (p.Gly274=) rs1209966955 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.999C>G (p.Leu333=) rs1284279454 0.00001
NM_001134363.3(RBM20):c.-1C>T
NM_001134363.3(RBM20):c.-2G>T
NM_001134363.3(RBM20):c.1020T>A (p.Pro340=)
NM_001134363.3(RBM20):c.1029C>T (p.His343=) rs1844351084
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.1056C>T (p.Pro352=) rs397516590
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.1079C>T (p.Thr360Ile) rs1477743309
NM_001134363.3(RBM20):c.1096G>T (p.Gly366Cys)
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
NM_001134363.3(RBM20):c.1118A>G (p.Gln373Arg)
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala) rs567118667
NM_001134363.3(RBM20):c.1176G>A (p.Arg392=)
NM_001134363.3(RBM20):c.1178C>T (p.Pro393Leu)
NM_001134363.3(RBM20):c.117A>G (p.Arg39=)
NM_001134363.3(RBM20):c.120G>A (p.Gly40=)
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter)
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.1270T>C (p.Leu424=)
NM_001134363.3(RBM20):c.1278C>T (p.Asp426=)
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro) rs886046698
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.1311T>C (p.Ala437=) rs1590676575
NM_001134363.3(RBM20):c.1319G>C (p.Cys440Ser)
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.1332del (p.Glu445fs)
NM_001134363.3(RBM20):c.1353T>C (p.Cys451=)
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.1371G>A (p.Glu457=)
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
NM_001134363.3(RBM20):c.141G>C (p.Pro47=)
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.1487A>T (p.Gln496Leu)
NM_001134363.3(RBM20):c.1527+1G>A
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met) rs1844567016
NM_001134363.3(RBM20):c.159G>C (p.Pro53=)
NM_001134363.3(RBM20):c.159G>T (p.Pro53=)
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
NM_001134363.3(RBM20):c.1603G>T (p.Val535Phe)
NM_001134363.3(RBM20):c.160C>T (p.Pro54Ser)
NM_001134363.3(RBM20):c.1671C>T (p.Ala557=)
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr) rs999297099
NM_001134363.3(RBM20):c.1695A>G (p.Glu565=)
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
NM_001134363.3(RBM20):c.172C>T (p.Leu58=)
NM_001134363.3(RBM20):c.1731A>G (p.Lys577=)
NM_001134363.3(RBM20):c.1738G>A (p.Val580Met)
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
NM_001134363.3(RBM20):c.1766G>T (p.Arg589Leu)
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) rs794729147
NM_001134363.3(RBM20):c.1779A>G (p.Arg593=)
NM_001134363.3(RBM20):c.1800+1G>A rs1060503414
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr) rs1342793239
NM_001134363.3(RBM20):c.1831C>T (p.Gln611Ter)
NM_001134363.3(RBM20):c.1833G>A (p.Gln611=) rs1361347193
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.1884T>C (p.Tyr628=)
NM_001134363.3(RBM20):c.1890A>G (p.Pro630=)
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=) rs796734066
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
NM_001134363.3(RBM20):c.1912C>G (p.Pro638Ala)
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met) rs1844778442
NM_001134363.3(RBM20):c.1923G>A (p.Arg641=)
NM_001134363.3(RBM20):c.192T>C (p.Asn64=)
NM_001134363.3(RBM20):c.1969T>A (p.Ser657Thr)
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.1970C>G (p.Ser657Cys)
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.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.2031G>T (p.Glu677Asp)
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His) rs1257262328
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
NM_001134363.3(RBM20):c.2051G>T (p.Arg684Met)
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
NM_001134363.3(RBM20):c.2075C>T (p.Pro692Leu)
NM_001134363.3(RBM20):c.2088C>T (p.Asn696=)
NM_001134363.3(RBM20):c.2097C>T (p.Asp699=)
NM_001134363.3(RBM20):c.20T>C (p.Met7Thr)
NM_001134363.3(RBM20):c.2115C>A (p.Asp705Glu)
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2216G>T (p.Arg739Ile)
NM_001134363.3(RBM20):c.2255A>G (p.Tyr752Cys)
NM_001134363.3(RBM20):c.225G>C (p.Ser75=)
NM_001134363.3(RBM20):c.2263C>G (p.Arg755Gly)
NM_001134363.3(RBM20):c.2264G>T (p.Arg755Leu)
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
NM_001134363.3(RBM20):c.2314C>T (p.Leu772=)
NM_001134363.3(RBM20):c.2324_2358del (p.Gln775fs) rs1554842773
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp) rs750988872
NM_001134363.3(RBM20):c.2339G>A (p.Gly780Glu)
NM_001134363.3(RBM20):c.2346C>G (p.Ser782=) rs894709573
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser) rs765544509
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys)
NM_001134363.3(RBM20):c.2382A>G (p.Arg794=) rs999008497
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln) rs781166982
NM_001134363.3(RBM20):c.2395G>T (p.Asp799Tyr)
NM_001134363.3(RBM20):c.2396A>T (p.Asp799Val)
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
NM_001134363.3(RBM20):c.2450G>A (p.Gly817Asp)
NM_001134363.3(RBM20):c.2463G>A (p.Lys821=)
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del) rs1554842819
NM_001134363.3(RBM20):c.2513C>A (p.Ala838Asp)
NM_001134363.3(RBM20):c.2535A>G (p.Thr845=)
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val) rs1844794673
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del) rs1236064535
NM_001134363.3(RBM20):c.2640C>T (p.Asn880=)
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
NM_001134363.3(RBM20):c.2718G>A (p.Glu906=)
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys) rs1564664325
NM_001134363.3(RBM20):c.2719G>T (p.Glu907Ter)
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala) rs794729154
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) rs1844907124
NM_001134363.3(RBM20):c.2752G>A (p.Glu918Lys)
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) rs947100716
NM_001134363.3(RBM20):c.2843G>A (p.Cys948Tyr)
NM_001134363.3(RBM20):c.2860G>C (p.Asp954His) rs1554843534
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu) rs1554843535
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu) rs369747752
NM_001134363.3(RBM20):c.2912A>G (p.Asn971Ser)
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
NM_001134363.3(RBM20):c.2941C>G (p.Pro981Ala)
NM_001134363.3(RBM20):c.2945G>T (p.Arg982Ile) rs1387852539
NM_001134363.3(RBM20):c.2949A>G (p.Glu983=)
NM_001134363.3(RBM20):c.2961T>G (p.Ala987=)
NM_001134363.3(RBM20):c.2973T>C (p.Cys991=)
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=) 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.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.3047G>A (p.Gly1016Asp) rs540014314
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3088A>C (p.Lys1030Gln)
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter) rs794729157
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val) rs1276115385
NM_001134363.3(RBM20):c.3156A>G (p.Ala1052=) rs2135122217
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3171G>T (p.Arg1057=) rs886038875
NM_001134363.3(RBM20):c.317C>T (p.Ala106Val)
NM_001134363.3(RBM20):c.3190G>T (p.Asp1064Tyr)
NM_001134363.3(RBM20):c.3201G>T (p.Lys1067Asn)
NM_001134363.3(RBM20):c.3218A>C (p.Glu1073Ala)
NM_001134363.3(RBM20):c.3249G>A (p.Glu1083=) rs2135122572
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His) rs772708424
NM_001134363.3(RBM20):c.3269T>A (p.Ile1090Asn)
NM_001134363.3(RBM20):c.3280C>G (p.Leu1094Val)
NM_001134363.3(RBM20):c.3283C>T (p.Gln1095Ter)
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3339G>A (p.Met1113Ile)
NM_001134363.3(RBM20):c.3381A>G (p.Glu1127=)
NM_001134363.3(RBM20):c.338A>C (p.Asn113Thr)
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
NM_001134363.3(RBM20):c.3420G>A (p.Glu1140=)
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
NM_001134363.3(RBM20):c.3485A>G (p.Tyr1162Cys)
NM_001134363.3(RBM20):c.3488G>A (p.Cys1163Tyr)
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys) rs371181124
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001134363.3(RBM20):c.351C>G (p.Ala117=)
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile) rs2135041252
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg) rs1845047234
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser) rs1060503416
NM_001134363.3(RBM20):c.3566A>T (p.Asn1189Ile)
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3594C>G (p.Ala1198=)
NM_001134363.3(RBM20):c.3654C>T (p.Ile1218=) rs1235947843
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu)
NM_001134363.3(RBM20):c.369C>A (p.Val123=)
NM_001134363.3(RBM20):c.380T>C (p.Val127Ala)
NM_001134363.3(RBM20):c.419C>A (p.Pro140Gln)
NM_001134363.3(RBM20):c.452G>A (p.Gly151Glu)
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) rs1231520936
NM_001134363.3(RBM20):c.490T>G (p.Phe164Val)
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) rs2135041793
NM_001134363.3(RBM20):c.508G>A (p.Ala170Thr)
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
NM_001134363.3(RBM20):c.522dup (p.Ser175fs)
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.551T>C (p.Met184Thr) rs2135042080
NM_001134363.3(RBM20):c.564C>T (p.Asn188=)
NM_001134363.3(RBM20):c.578C>G (p.Ala193Gly)
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
NM_001134363.3(RBM20):c.632C>T (p.Ala211Val)
NM_001134363.3(RBM20):c.669A>G (p.Pro223=)
NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly)
NM_001134363.3(RBM20):c.700G>A (p.Ala234Thr) rs1554898862
NM_001134363.3(RBM20):c.705C>T (p.Ser235=)
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
NM_001134363.3(RBM20):c.767C>T (p.Ser256Leu)
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732
NM_001134363.3(RBM20):c.807C>G (p.His269Gln)
NM_001134363.3(RBM20):c.80C>A (p.Pro27His)
NM_001134363.3(RBM20):c.820G>A (p.Gly274Ser)
NM_001134363.3(RBM20):c.843T>A (p.Asp281Glu)
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val) rs2135043456
NM_001134363.3(RBM20):c.873T>C (p.His291=)
NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly)
NM_001134363.3(RBM20):c.916A>G (p.Ser306Gly)
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
NM_001134363.3(RBM20):c.934C>T (p.Leu312=)
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
NM_001134363.3(RBM20):c.98del (p.Pro33fs) rs1413443268

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