ClinVar Miner

List of variants in gene CBL reported as likely benign for RASopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 401
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser) rs150550899 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005188.4(CBL):c.2360G>A (p.Arg787His) rs200220863 0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005188.4(CBL):c.873T>C (p.Tyr291=) rs756526812 0.00009
NM_005188.4(CBL):c.1356C>T (p.Ser452=) rs150443504 0.00008
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln) rs770667508 0.00007
NM_005188.4(CBL):c.951A>G (p.Thr317=) rs34851541 0.00007
NM_005188.4(CBL):c.1008-18G>A rs764185548 0.00006
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) rs764599897 0.00006
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.2721G>A (p.Ter907=) rs937827423 0.00006
NM_005188.4(CBL):c.869+10A>G rs768380727 0.00006
NM_005188.4(CBL):c.1432-10T>C rs369724825 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly) rs374515645 0.00005
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser) rs371026706 0.00005
NM_005188.4(CBL):c.1140A>G (p.Leu380=) rs370331997 0.00004
NM_005188.4(CBL):c.1228-10T>G rs754477196 0.00004
NM_005188.4(CBL):c.1357C>T (p.Pro453Ser) rs748055961 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.1564-18T>C rs754540533 0.00004
NM_005188.4(CBL):c.1638G>A (p.Pro546=) rs375702554 0.00004
NM_005188.4(CBL):c.1911C>T (p.Leu637=) rs552760421 0.00004
NM_005188.4(CBL):c.1942-17T>C rs907111206 0.00004
NM_005188.4(CBL):c.2024C>G (p.Ser675Cys) rs553979171 0.00004
NM_005188.4(CBL):c.2073A>G (p.Gln691=) rs140298671 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.711G>A (p.Ser237=) rs146662327 0.00004
NM_005188.4(CBL):c.819G>A (p.Thr273=) rs750907780 0.00004
NM_005188.4(CBL):c.837T>C (p.Ala279=) rs140250592 0.00004
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_005188.4(CBL):c.1495C>A (p.Arg499=) rs778927765 0.00003
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005188.4(CBL):c.1920G>A (p.Thr640=) rs202158626 0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005188.4(CBL):c.2691C>T (p.Ser897=) rs762560254 0.00003
NM_005188.4(CBL):c.516A>G (p.Gly172=) rs765968487 0.00003
NM_005188.4(CBL):c.869+15G>A rs761328610 0.00003
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser) rs370489946 0.00002
NM_005188.4(CBL):c.1830A>G (p.Thr610=) rs756758516 0.00002
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.1941+17A>T rs752171870 0.00002
NM_005188.4(CBL):c.1942-4C>T rs776366304 0.00002
NM_005188.4(CBL):c.195+10C>A rs878854755 0.00002
NM_005188.4(CBL):c.195+14T>G rs1011872703 0.00002
NM_005188.4(CBL):c.2199A>G (p.Ala733=) rs1272395484 0.00002
NM_005188.4(CBL):c.2235C>T (p.Thr745=) rs763880494 0.00002
NM_005188.4(CBL):c.2435-4C>T rs770832773 0.00002
NM_005188.4(CBL):c.2535T>C (p.Gly845=) rs778902867 0.00002
NM_005188.4(CBL):c.801C>G (p.Gly267=) rs727502913 0.00002
NM_005188.4(CBL):c.825C>T (p.Asp275=) rs751768529 0.00002
NM_005188.4(CBL):c.1008-10C>T rs1376523909 0.00001
NM_005188.4(CBL):c.1008-11A>G rs1173312041 0.00001
NM_005188.4(CBL):c.1008-8C>T rs1172261425 0.00001
NM_005188.4(CBL):c.1071C>T (p.Pro357=) rs397517075 0.00001
NM_005188.4(CBL):c.1128C>T (p.Ser376=) rs1949904381 0.00001
NM_005188.4(CBL):c.1182G>A (p.Glu394=) rs760728674 0.00001
NM_005188.4(CBL):c.1191A>G (p.Gly397=) rs761630653 0.00001
NM_005188.4(CBL):c.1206A>G (p.Thr402=) rs764805609 0.00001
NM_005188.4(CBL):c.1221C>T (p.Ser407=) rs751978701 0.00001
NM_005188.4(CBL):c.1245C>G (p.Gly415=) rs751199195 0.00001
NM_005188.4(CBL):c.1281A>G (p.Glu427=) rs773110111 0.00001
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005188.4(CBL):c.1326G>A (p.Leu442=) rs548423757 0.00001
NM_005188.4(CBL):c.1431+11A>C rs891410943 0.00001
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu) rs369547447 0.00001
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala) rs377734587 0.00001
NM_005188.4(CBL):c.1563+13C>T rs199795242 0.00001
NM_005188.4(CBL):c.1564-16C>A rs992126448 0.00001
NM_005188.4(CBL):c.1680T>C (p.Pro560=) rs1949974116 0.00001
NM_005188.4(CBL):c.1695G>A (p.Leu565=) rs776804746 0.00001
NM_005188.4(CBL):c.1788C>G (p.Pro596=) rs1060503995 0.00001
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile) rs571045498 0.00001
NM_005188.4(CBL):c.1959A>G (p.Pro653=) rs752080219 0.00001
NM_005188.4(CBL):c.196-16T>C rs1171075655 0.00001
NM_005188.4(CBL):c.2004A>T (p.Ser668=) rs994833014 0.00001
NM_005188.4(CBL):c.2034C>T (p.Ala678=) rs1949996840 0.00001
NM_005188.4(CBL):c.2055A>G (p.Lys685=) rs1454595224 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.2097G>A (p.Glu699=) rs1057519031 0.00001
NM_005188.4(CBL):c.2153+10C>T rs745316113 0.00001
NM_005188.4(CBL):c.2169C>T (p.Asp723=) rs1447136408 0.00001
NM_005188.4(CBL):c.2222C>T (p.Ala741Val) rs763213265 0.00001
NM_005188.4(CBL):c.2292C>T (p.Pro764=) rs538991997 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.2346G>A (p.Pro782=) rs762655460 0.00001
NM_005188.4(CBL):c.2434+15dup rs397517079 0.00001
NM_005188.4(CBL):c.243A>G (p.Pro81=) rs863224399 0.00001
NM_005188.4(CBL):c.2451C>T (p.Ser817=) rs1214485253 0.00001
NM_005188.4(CBL):c.2460C>T (p.Pro820=) rs774166893 0.00001
NM_005188.4(CBL):c.246T>G (p.Pro82=) rs764747073 0.00001
NM_005188.4(CBL):c.2556C>T (p.Thr852=) rs199537344 0.00001
NM_005188.4(CBL):c.2583C>T (p.Ile861=) rs397517080 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.2655C>T (p.Ile885=) rs747804658 0.00001
NM_005188.4(CBL):c.443+17A>G rs1438042521 0.00001
NM_005188.4(CBL):c.444-9C>T rs892852052 0.00001
NM_005188.4(CBL):c.495A>G (p.Leu165=) rs764992632 0.00001
NM_005188.4(CBL):c.522T>C (p.Phe174=) rs727502912 0.00001
NM_005188.4(CBL):c.573A>G (p.Arg191=) rs1254459327 0.00001
NM_005188.4(CBL):c.590+11G>A rs772028174 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005188.4(CBL):c.624T>C (p.Ala208=) rs757950499 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005188.4(CBL):c.714T>G (p.Val238=) rs371523922 0.00001
NM_005188.4(CBL):c.747+8A>G rs199517263 0.00001
NM_005188.4(CBL):c.748-15A>G rs879784628 0.00001
NM_005188.4(CBL):c.822T>C (p.Tyr274=) rs766797364 0.00001
NM_005188.4(CBL):c.870-18G>T rs1440973761 0.00001
NM_005188.4(CBL):c.898C>T (p.Leu300=) rs771326694 0.00001
NM_005188.4(CBL):c.929C>T (p.Ala310Val) rs764199611 0.00001
NM_005188.4(CBL):c.1007+16A>G rs1454883852
NM_005188.4(CBL):c.1007+19C>T
NM_005188.4(CBL):c.1008-11A>C
NM_005188.4(CBL):c.1023T>C (p.Asp341=) rs1368487308
NM_005188.4(CBL):c.1062A>G (p.Glu354=)
NM_005188.4(CBL):c.1095+10G>T
NM_005188.4(CBL):c.1095+18T>C rs532317818
NM_005188.4(CBL):c.1096-14T>G
NM_005188.4(CBL):c.1096-17A>T
NM_005188.4(CBL):c.1096-18A>G
NM_005188.4(CBL):c.1096-21_1096-19del
NM_005188.4(CBL):c.1096-5C>T
NM_005188.4(CBL):c.1096-8A>G rs2135303472
NM_005188.4(CBL):c.1096-9del rs758061092
NM_005188.4(CBL):c.1104T>C (p.Tyr368=) rs1421407887
NM_005188.4(CBL):c.1110A>G (p.Leu370=) rs754168206
NM_005188.4(CBL):c.1125C>T (p.Gly375=)
NM_005188.4(CBL):c.1137A>G (p.Gln379=) rs757933118
NM_005188.4(CBL):c.1173A>G (p.Val391=)
NM_005188.4(CBL):c.1197C>A (p.Leu399=)
NM_005188.4(CBL):c.1209C>T (p.Ser403=) rs978200568
NM_005188.4(CBL):c.1218A>C (p.Thr406=) rs761053226
NM_005188.4(CBL):c.1218A>G (p.Thr406=) rs761053226
NM_005188.4(CBL):c.1227+17C>A
NM_005188.4(CBL):c.1227+17C>T rs749579743
NM_005188.4(CBL):c.1228-20A>G rs1438346127
NM_005188.4(CBL):c.1230A>G (p.Glu410=)
NM_005188.4(CBL):c.1248T>C (p.Cys416=)
NM_005188.4(CBL):c.1254C>T (p.Phe418=) rs2135304448
NM_005188.4(CBL):c.1278T>A (p.Thr426=)
NM_005188.4(CBL):c.1290G>A (p.Val430=) rs1060503996
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1299G>C (p.Pro433=)
NM_005188.4(CBL):c.1299G>T (p.Pro433=)
NM_005188.4(CBL):c.1323C>T (p.Ser441=) rs1044787155
NM_005188.4(CBL):c.1327T>C (p.Leu443=)
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) rs749044865
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1380T>C (p.Asp460=) rs2135304809
NM_005188.4(CBL):c.1395T>C (p.Asp465=)
NM_005188.4(CBL):c.1401C>A (p.Leu467=)
NM_005188.4(CBL):c.1431+10C>T
NM_005188.4(CBL):c.1431+15T>C
NM_005188.4(CBL):c.1431+17G>A rs1949909892
NM_005188.4(CBL):c.1432-5C>G
NM_005188.4(CBL):c.1432-7A>G rs1349100855
NM_005188.4(CBL):c.1432-9G>T
NM_005188.4(CBL):c.1434G>T (p.Val478=) rs374936250
NM_005188.4(CBL):c.1443G>A (p.Pro481=) rs768111719
NM_005188.4(CBL):c.1452A>G (p.Pro484=)
NM_005188.4(CBL):c.1464C>T (p.Ala488=) rs766521315
NM_005188.4(CBL):c.1507C>T (p.Leu503=) rs1592405051
NM_005188.4(CBL):c.1512G>T (p.Pro504=) rs758285751
NM_005188.4(CBL):c.1521A>T (p.Val507=)
NM_005188.4(CBL):c.1530C>T (p.Pro510=)
NM_005188.4(CBL):c.1554T>A (p.Thr518=)
NM_005188.4(CBL):c.1563+11_1563+17del
NM_005188.4(CBL):c.1563+14C>T
NM_005188.4(CBL):c.1563+15A>G
NM_005188.4(CBL):c.1563+19C>T
NM_005188.4(CBL):c.1563+22_1563+30del
NM_005188.4(CBL):c.1564-11T>G
NM_005188.4(CBL):c.1564-12C>T
NM_005188.4(CBL):c.1564-13_1564-3del rs759801355
NM_005188.4(CBL):c.1564-16C>T rs992126448
NM_005188.4(CBL):c.1564-20C>T rs2135310240
NM_005188.4(CBL):c.1581T>C (p.Leu527=)
NM_005188.4(CBL):c.1596A>G (p.Pro532=)
NM_005188.4(CBL):c.1611C>T (p.Pro537=) rs1258105653
NM_005188.4(CBL):c.1614A>G (p.Thr538=) rs1408642074
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln) rs143034856
NM_005188.4(CBL):c.1729A>G (p.Lys577Glu)
NM_005188.4(CBL):c.1737C>T (p.Pro579=)
NM_005188.4(CBL):c.1743C>T (p.Val581=) rs570668705
NM_005188.4(CBL):c.1746C>T (p.Pro582=)
NM_005188.4(CBL):c.1749T>C (p.Ser583=)
NM_005188.4(CBL):c.1758T>C (p.Leu586=)
NM_005188.4(CBL):c.1773G>T (p.Leu591=) rs148474386
NM_005188.4(CBL):c.1797A>G (p.Pro599=)
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln) rs780457588
NM_005188.4(CBL):c.1857A>T (p.Ser619=)
NM_005188.4(CBL):c.1862C>T (p.Pro621Leu) rs1334315007
NM_005188.4(CBL):c.1870T>C (p.Leu624=) rs981306664
NM_005188.4(CBL):c.1872G>T (p.Leu624Phe)
NM_005188.4(CBL):c.1875C>T (p.Pro625=)
NM_005188.4(CBL):c.1878A>G (p.Ser626=)
NM_005188.4(CBL):c.1905T>C (p.Pro635=)
NM_005188.4(CBL):c.1911C>G (p.Leu637=) rs552760421
NM_005188.4(CBL):c.1914A>G (p.Gly638=) rs2135310998
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn) rs571045498
NM_005188.4(CBL):c.1935C>T (p.Thr645=)
NM_005188.4(CBL):c.1941+10A>C rs1238672363
NM_005188.4(CBL):c.1941+23_1941+26del rs1949978831
NM_005188.4(CBL):c.1942-14T>G rs2135312850
NM_005188.4(CBL):c.1942-16T>C
NM_005188.4(CBL):c.1942-18C>T
NM_005188.4(CBL):c.1942-19A>G
NM_005188.4(CBL):c.1942-20C>T
NM_005188.4(CBL):c.1942-7T>C
NM_005188.4(CBL):c.195+12G>C rs1040283004
NM_005188.4(CBL):c.195+12_195+13delinsTT rs1949271281
NM_005188.4(CBL):c.195+17G>A
NM_005188.4(CBL):c.195+17del
NM_005188.4(CBL):c.195+18C>T rs2135244298
NM_005188.4(CBL):c.195+19G>T
NM_005188.4(CBL):c.1956C>T (p.Ser652=)
NM_005188.4(CBL):c.196-12C>G rs2135266089
NM_005188.4(CBL):c.196-19T>C rs2135266082
NM_005188.4(CBL):c.196-4G>A
NM_005188.4(CBL):c.196-6T>A
NM_005188.4(CBL):c.196-6T>C
NM_005188.4(CBL):c.1965A>G (p.Val655=)
NM_005188.4(CBL):c.1980C>T (p.Asp660=)
NM_005188.4(CBL):c.2004A>G (p.Ser668=)
NM_005188.4(CBL):c.201G>A (p.Val67=) rs1195793980
NM_005188.4(CBL):c.2025T>C (p.Ser675=) rs2135312966
NM_005188.4(CBL):c.2031T>C (p.Ala677=)
NM_005188.4(CBL):c.2036+10C>G
NM_005188.4(CBL):c.2036+14A>C
NM_005188.4(CBL):c.2036+17T>C
NM_005188.4(CBL):c.2037-16A>C
NM_005188.4(CBL):c.2037-17T>G rs2135319753
NM_005188.4(CBL):c.2037-4C>T
NM_005188.4(CBL):c.2049G>A (p.Val683=) rs1950067375
NM_005188.4(CBL):c.204G>T (p.Arg68=) rs1193552867
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2106T>C (p.Thr702=)
NM_005188.4(CBL):c.2118G>A (p.Arg706=) rs1950068296
NM_005188.4(CBL):c.2120C>T (p.Pro707Leu)
NM_005188.4(CBL):c.2122C>T (p.Leu708=)
NM_005188.4(CBL):c.2124A>G (p.Leu708=)
NM_005188.4(CBL):c.2153+12A>G
NM_005188.4(CBL):c.2153+14A>C
NM_005188.4(CBL):c.2153+18C>G
NM_005188.4(CBL):c.2154-12C>G
NM_005188.4(CBL):c.2154-13C>A rs748969942
NM_005188.4(CBL):c.2154-13C>G
NM_005188.4(CBL):c.2154-14T>C rs1950071352
NM_005188.4(CBL):c.2154-14dup
NM_005188.4(CBL):c.2154-7G>C rs2135320148
NM_005188.4(CBL):c.2157A>G (p.Ala719=)
NM_005188.4(CBL):c.2166C>T (p.Cys722=)
NM_005188.4(CBL):c.2172G>A (p.Gln724=)
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974
NM_005188.4(CBL):c.2251+13T>G
NM_005188.4(CBL):c.2251+14del
NM_005188.4(CBL):c.2251+16G>A
NM_005188.4(CBL):c.2251+19A>G rs1398869837
NM_005188.4(CBL):c.2251+8G>T
NM_005188.4(CBL):c.2251+9C>A rs1439660465
NM_005188.4(CBL):c.2252-12A>G
NM_005188.4(CBL):c.2252-12A>T
NM_005188.4(CBL):c.2252-13C>T
NM_005188.4(CBL):c.2252-15C>T
NM_005188.4(CBL):c.2252-17C>G
NM_005188.4(CBL):c.2252-18_2252-16del
NM_005188.4(CBL):c.2252-19A>G
NM_005188.4(CBL):c.2252-19A>T
NM_005188.4(CBL):c.2253T>G (p.Gly751=) rs2135320931
NM_005188.4(CBL):c.2259G>A (p.Gly753=) rs1591270443
NM_005188.4(CBL):c.2259G>C (p.Gly753=) rs1591270443
NM_005188.4(CBL):c.2263T>C (p.Leu755=) rs2135320946
NM_005188.4(CBL):c.2283C>T (p.Asn761=)
NM_005188.4(CBL):c.228G>A (p.Ala76=) rs2135266151
NM_005188.4(CBL):c.2307T>C (p.Asn769=)
NM_005188.4(CBL):c.2310G>A (p.Glu770=)
NM_005188.4(CBL):c.231A>G (p.Leu77=) rs2135266156
NM_005188.4(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.4(CBL):c.2370C>T (p.Leu790=)
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe) rs201620100
NM_005188.4(CBL):c.2388C>T (p.Ala796=)
NM_005188.4(CBL):c.2394C>T (p.Ser798=) rs773256658
NM_005188.4(CBL):c.2434+12G>A
NM_005188.4(CBL):c.2434+13A>G rs2135321355
NM_005188.4(CBL):c.2434+18T>C
NM_005188.4(CBL):c.2434+19T>C rs1040579282
NM_005188.4(CBL):c.2435-11A>G
NM_005188.4(CBL):c.2435-13C>A
NM_005188.4(CBL):c.2435-13C>T
NM_005188.4(CBL):c.2435-14C>G rs2135321973
NM_005188.4(CBL):c.2435-14C>T
NM_005188.4(CBL):c.2435-18C>T rs2135321969
NM_005188.4(CBL):c.2435-7C>A
NM_005188.4(CBL):c.2435-8del
NM_005188.4(CBL):c.2435-9T>C
NM_005188.4(CBL):c.2442T>C (p.Thr814=) rs2135321991
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr) rs199771745
NM_005188.4(CBL):c.2517C>T (p.Ser839=) rs2135322103
NM_005188.4(CBL):c.253T>C (p.Leu85=) rs2135266192
NM_005188.4(CBL):c.2559C>T (p.Ala853=)
NM_005188.4(CBL):c.2571C>T (p.Leu857=)
NM_005188.4(CBL):c.2580G>A (p.Glu860=) rs751908445
NM_005188.4(CBL):c.258C>T (p.Asp86=)
NM_005188.4(CBL):c.2604G>A (p.Gly868=) rs200774234
NM_005188.4(CBL):c.2607C>T (p.Tyr869=)
NM_005188.4(CBL):c.2622C>T (p.Ile874=)
NM_005188.4(CBL):c.2670C>T (p.Asn890=)
NM_005188.4(CBL):c.2715T>C (p.Ala905=) rs2135322388
NM_005188.4(CBL):c.321G>A (p.Glu107=)
NM_005188.4(CBL):c.324A>G (p.Thr108=)
NM_005188.4(CBL):c.345T>C (p.Phe115=) rs1342206980
NM_005188.4(CBL):c.354T>C (p.Phe118=)
NM_005188.4(CBL):c.381G>A (p.Lys127=) rs1949512395
NM_005188.4(CBL):c.399C>T (p.Phe133=) rs2135266372
NM_005188.4(CBL):c.432T>C (p.Asn144=)
NM_005188.4(CBL):c.443+13del
NM_005188.4(CBL):c.443+16T>C
NM_005188.4(CBL):c.443+9G>A
NM_005188.4(CBL):c.444-17A>C
NM_005188.4(CBL):c.444-18C>A
NM_005188.4(CBL):c.444-18C>T rs879040078
NM_005188.4(CBL):c.444-20T>C rs1238042752
NM_005188.4(CBL):c.444-4G>T rs1331093488
NM_005188.4(CBL):c.444-9dup rs1949850430
NM_005188.4(CBL):c.451C>T (p.Leu151=)
NM_005188.4(CBL):c.519C>T (p.Leu173=) rs1949851368
NM_005188.4(CBL):c.525G>A (p.Gln175=)
NM_005188.4(CBL):c.531C>T (p.Asp177=)
NM_005188.4(CBL):c.534A>G (p.Thr178=) rs1346848498
NM_005188.4(CBL):c.546T>G (p.Thr182=)
NM_005188.4(CBL):c.549A>G (p.Lys183=)
NM_005188.4(CBL):c.561G>A (p.Ala187=)
NM_005188.4(CBL):c.582T>C (p.Phe194=) rs1565870454
NM_005188.4(CBL):c.590+12A>G
NM_005188.4(CBL):c.590+16A>C rs2135297202
NM_005188.4(CBL):c.591-14C>T
NM_005188.4(CBL):c.591-17C>T
NM_005188.4(CBL):c.591-20C>T
NM_005188.4(CBL):c.591-8C>G rs749291716
NM_005188.4(CBL):c.591-8C>T rs749291716
NM_005188.4(CBL):c.591-9C>A
NM_005188.4(CBL):c.591-9C>G rs747041808
NM_005188.4(CBL):c.594A>T (p.Thr198=)
NM_005188.4(CBL):c.618A>G (p.Arg206=) rs2135298754
NM_005188.4(CBL):c.627A>G (p.Leu209=) rs1057524651
NM_005188.4(CBL):c.672G>A (p.Leu224=) rs2135298929
NM_005188.4(CBL):c.688C>T (p.Leu230=)
NM_005188.4(CBL):c.693C>A (p.Thr231=)
NM_005188.4(CBL):c.702T>C (p.Asp234=) rs2135299020
NM_005188.4(CBL):c.711G>C (p.Ser237=)
NM_005188.4(CBL):c.726C>T (p.Asp242=) rs886152926
NM_005188.4(CBL):c.729C>T (p.Ile243=)
NM_005188.4(CBL):c.735C>T (p.Thr245=)
NM_005188.4(CBL):c.747+10_747+11insTTAT rs1473693007
NM_005188.4(CBL):c.747+19_747+20insA rs1949869142
NM_005188.4(CBL):c.747+8A>T
NM_005188.4(CBL):c.748-11del
NM_005188.4(CBL):c.748-12T>A rs1949876096
NM_005188.4(CBL):c.748-13C>A
NM_005188.4(CBL):c.748-16G>C rs200533967
NM_005188.4(CBL):c.748-18T>C
NM_005188.4(CBL):c.748-19A>C
NM_005188.4(CBL):c.748-20G>A
NM_005188.4(CBL):c.748-6C>T rs1398964671
NM_005188.4(CBL):c.768G>A (p.Arg256=) rs1555229786
NM_005188.4(CBL):c.777C>T (p.Asn259=)
NM_005188.4(CBL):c.814T>C (p.Leu272=) rs2135300581
NM_005188.4(CBL):c.831G>C (p.Val277=)
NM_005188.4(CBL):c.869+14C>T
NM_005188.4(CBL):c.869+18A>G rs1432059209
NM_005188.4(CBL):c.870-13T>C
NM_005188.4(CBL):c.882G>A (p.Arg294=) rs1949886854
NM_005188.4(CBL):c.891T>C (p.Cys297=) rs1949886927
NM_005188.4(CBL):c.906G>A (p.Gln302=)
NM_005188.4(CBL):c.927T>C (p.Thr309=)
NM_005188.4(CBL):c.945C>G (p.Leu315=)
NM_005188.4(CBL):c.954C>T (p.Ile318=) rs1592399698
NM_005188.4(CBL):c.966A>G (p.Lys322=) rs2135301572
NM_005188.4(CBL):c.972C>T (p.Leu324=) rs2135301576
NM_005188.4(CBL):c.981A>G (p.Ala327=) rs2135301590

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