ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia

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ClinVar version:
Total variants: 1131
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2528+68T>C rs284523 0.36760
NM_014140.4(SMARCAL1):c.2071-136T>C rs2129119 0.30191
NM_014140.4(SMARCAL1):c.1711-132G>A rs2738284 0.24411
NM_014140.4(SMARCAL1):c.-218C>T rs3755141 0.22352
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09632
NM_014140.4(SMARCAL1):c.1852-153A>G rs66931264 0.09543
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04137
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02324
NM_014140.4(SMARCAL1):c.-200G>A rs79352134 0.02034
NM_014140.4(SMARCAL1):c.-137A>G rs115172989 0.01997
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00918
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916 0.00728
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00693
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810 0.00316
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00234
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00217
NM_014140.4(SMARCAL1):c.*30T>G rs186052380 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_014140.4(SMARCAL1):c.-141G>A rs542884297 0.00148
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00115
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu) rs199805996 0.00068
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014140.4(SMARCAL1):c.-114G>A rs561221026 0.00058
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00055
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00045
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_014140.4(SMARCAL1):c.2244+19T>C rs752967601 0.00038
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186 0.00038
NM_014140.4(SMARCAL1):c.1851+14C>G rs369856866 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00035
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00031
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565 0.00030
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_014140.4(SMARCAL1):c.270C>T (p.His90=) rs150591090 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00027
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00026
NM_014140.4(SMARCAL1):c.496C>T (p.Pro166Ser) rs772212169 0.00026
NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His) rs150148936 0.00025
NM_014140.4(SMARCAL1):c.2427+9C>T rs201601053 0.00023
NM_014140.4(SMARCAL1):c.-164G>A rs767342189 0.00019
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00019
NM_014140.4(SMARCAL1):c.2071-12A>G rs1462058051 0.00015
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00015
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) rs62178625 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020 0.00012
NM_014140.4(SMARCAL1):c.1159C>T (p.Arg387Cys) rs147448613 0.00011
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559 0.00011
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=) rs142314193 0.00010
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605 0.00009
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014140.4(SMARCAL1):c.2142-15C>A rs371522763 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214 0.00009
NM_014140.4(SMARCAL1):c.812-15T>C rs375588610 0.00009
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014140.4(SMARCAL1):c.1732T>C (p.Leu578=) rs370667576 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00007
NM_014140.4(SMARCAL1):c.1259T>C (p.Val420Ala) rs185854595 0.00007
NM_014140.4(SMARCAL1):c.1301C>T (p.Ser434Phe) rs200635428 0.00007
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758 0.00007
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) rs773940970 0.00006
NM_014140.4(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954 0.00006
NM_014140.4(SMARCAL1):c.1342A>G (p.Ile448Val) rs370689030 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.2073A>G (p.Lys691=) rs112200018 0.00006
NM_014140.4(SMARCAL1):c.2625+18C>T rs370523069 0.00006
NM_014140.4(SMARCAL1):c.765T>C (p.Asn255=) rs764441226 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His) rs141881295 0.00005
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310 0.00005
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.723C>T (p.Cys241=) rs748106387 0.00005
NM_014140.4(SMARCAL1):c.732C>T (p.Asn244=) rs201962302 0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) rs149510554 0.00005
NM_014140.4(SMARCAL1):c.*13G>T rs760333596 0.00004
NM_014140.4(SMARCAL1):c.1065G>A (p.Ala355=) rs374876609 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1250C>T (p.Thr417Met) rs759517115 0.00004
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.1852-19G>A rs144613441 0.00004
NM_014140.4(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052 0.00004
NM_014140.4(SMARCAL1):c.2355C>T (p.Thr785=) rs560510661 0.00004
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr) rs369844668 0.00004
NM_014140.4(SMARCAL1):c.2568C>T (p.Ala856=) rs772917843 0.00004
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) rs376295895 0.00004
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) rs777896137 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014140.3(SMARCAL1):c.-316T>C rs1158002165 0.00003
NM_014140.4(SMARCAL1):c.-48C>A rs576450027 0.00003
NM_014140.4(SMARCAL1):c.1056C>T (p.Asp352=) rs775747796 0.00003
NM_014140.4(SMARCAL1):c.1061T>C (p.Ile354Thr) rs768801748 0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00003
NM_014140.4(SMARCAL1):c.1110G>A (p.Arg370=) rs779169942 0.00003
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.1572C>T (p.Ile524=) rs749951090 0.00003
NM_014140.4(SMARCAL1):c.1641C>T (p.Ile547=) rs771041445 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575 0.00003
NM_014140.4(SMARCAL1):c.1996C>T (p.Pro666Ser) rs376035215 0.00003
NM_014140.4(SMARCAL1):c.2031G>A (p.Leu677=) rs373085384 0.00003
NM_014140.4(SMARCAL1):c.2141+20C>T rs748240390 0.00003
NM_014140.4(SMARCAL1):c.2217C>T (p.Asp739=) rs372977172 0.00003
NM_014140.4(SMARCAL1):c.2427+11C>A rs777739616 0.00003
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) rs750345128 0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00003
NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly) rs776290743 0.00003
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) rs767158204 0.00003
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) rs137914185 0.00003
NM_014140.4(SMARCAL1):c.811+9T>C rs1216438158 0.00003
NM_014140.4(SMARCAL1):c.837C>T (p.Phe279=) rs762425520 0.00003
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) rs767482393 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_014140.4(SMARCAL1):c.89C>T (p.Ala30Val) rs1421489011 0.00003
NM_014140.4(SMARCAL1):c.926G>A (p.Ser309Asn) rs545116067 0.00003
NM_014140.4(SMARCAL1):c.987A>C (p.Ser329=) rs765018454 0.00003
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186 0.00002
NM_014140.4(SMARCAL1):c.1486-20T>G rs776671714 0.00002
NM_014140.4(SMARCAL1):c.1521T>C (p.Asp507=) rs1482127849 0.00002
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys) rs763864983 0.00002
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val) rs781453232 0.00002
NM_014140.4(SMARCAL1):c.1729C>T (p.Leu577=) rs1341949416 0.00002
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) rs766857853 0.00002
NM_014140.4(SMARCAL1):c.1852-20C>T rs201188997 0.00002
NM_014140.4(SMARCAL1):c.1869C>G (p.Asp623Glu) rs144394359 0.00002
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) rs759402336 0.00002
NM_014140.4(SMARCAL1):c.1967C>G (p.Ala656Gly) rs1234057744 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00002
NM_014140.4(SMARCAL1):c.2185T>G (p.Leu729Val) rs369163180 0.00002
NM_014140.4(SMARCAL1):c.2265C>T (p.Ile755=) rs962202326 0.00002
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014140.4(SMARCAL1):c.2569G>A (p.Gly857Arg) rs760511139 0.00002
NM_014140.4(SMARCAL1):c.2583C>T (p.Thr861=) rs766357613 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 0.00002
NM_014140.4(SMARCAL1):c.644C>T (p.Thr215Met) rs759842283 0.00002
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val) rs751712707 0.00002
NM_014140.4(SMARCAL1):c.771A>G (p.Glu257=) rs767894063 0.00002
NM_014140.4(SMARCAL1):c.863-20C>T rs776967279 0.00002
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) rs909294272 0.00002
NM_014140.3(SMARCAL1):c.-300G>C rs549159106 0.00001
NM_014140.4(SMARCAL1):c.-170C>T rs886055614 0.00001
NM_014140.4(SMARCAL1):c.1000C>A (p.Arg334=) rs758888999 0.00001
NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter) rs119473035 0.00001
NM_014140.4(SMARCAL1):c.1028T>C (p.Phe343Ser) rs1403239152 0.00001
NM_014140.4(SMARCAL1):c.1029C>T (p.Phe343=) rs757734409 0.00001
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly) rs745997031 0.00001
NM_014140.4(SMARCAL1):c.1064C>A (p.Ala355Glu) rs772913825 0.00001
NM_014140.4(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825 0.00001
NM_014140.4(SMARCAL1):c.1097-15T>G rs377533846 0.00001
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly) rs2106014375 0.00001
NM_014140.4(SMARCAL1):c.1113G>A (p.Lys371=) rs1484602532 0.00001
NM_014140.4(SMARCAL1):c.1125C>G (p.Leu375=) rs746815850 0.00001
NM_014140.4(SMARCAL1):c.1134G>A (p.Glu378=) rs1255602008 0.00001
NM_014140.4(SMARCAL1):c.1147+17A>G rs1426572907 0.00001
NM_014140.4(SMARCAL1):c.1147+18C>G rs775174025 0.00001
NM_014140.4(SMARCAL1):c.1158G>A (p.Val386=) rs769875821 0.00001
NM_014140.4(SMARCAL1):c.1185C>T (p.Asp395=) rs1420647752 0.00001
NM_014140.4(SMARCAL1):c.1189C>T (p.Leu397=) rs773676455 0.00001
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs) rs956223874 0.00001
NM_014140.4(SMARCAL1):c.1197G>A (p.Thr399=) rs767036014 0.00001
NM_014140.4(SMARCAL1):c.120C>G (p.Thr40=) rs747399047 0.00001
NM_014140.4(SMARCAL1):c.1211C>T (p.Ala404Val) rs761003078 0.00001
NM_014140.4(SMARCAL1):c.1218T>A (p.Ala406=) rs979326079 0.00001
NM_014140.4(SMARCAL1):c.1224G>A (p.Gln408=) rs532441224 0.00001
NM_014140.4(SMARCAL1):c.123C>T (p.Ser41=) rs757540052 0.00001
NM_014140.4(SMARCAL1):c.1278T>A (p.Ser426=) rs780207194 0.00001
NM_014140.4(SMARCAL1):c.1320G>A (p.Gln440=) rs560362356 0.00001
NM_014140.4(SMARCAL1):c.1327G>C (p.Gly443Arg) rs772817540 0.00001
NM_014140.4(SMARCAL1):c.1334+11G>A rs760096345 0.00001
NM_014140.4(SMARCAL1):c.1334+15T>A rs1422007189 0.00001
NM_014140.4(SMARCAL1):c.1334+4G>A rs376469384 0.00001
NM_014140.4(SMARCAL1):c.1335-6C>T rs1348472847 0.00001
NM_014140.4(SMARCAL1):c.1341C>T (p.Ala447=) rs1332855037 0.00001
NM_014140.4(SMARCAL1):c.1353A>G (p.Gly451=) rs751622752 0.00001
NM_014140.4(SMARCAL1):c.135C>T (p.Asn45=) rs775439777 0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268 0.00001
NM_014140.4(SMARCAL1):c.1369G>A (p.Ala457Thr) rs778972713 0.00001
NM_014140.4(SMARCAL1):c.1371T>C (p.Ala457=) rs752560860 0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162 0.00001
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) rs770049590 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1446G>A (p.Leu482=) rs909536305 0.00001
NM_014140.4(SMARCAL1):c.1464C>T (p.Ser488=) rs139469074 0.00001
NM_014140.4(SMARCAL1):c.1465G>A (p.Val489Met) rs745494010 0.00001
NM_014140.4(SMARCAL1):c.1467G>A (p.Val489=) rs145525014 0.00001
NM_014140.4(SMARCAL1):c.1485+10C>T rs886042157 0.00001
NM_014140.4(SMARCAL1):c.1485+1G>A rs772028268 0.00001
NM_014140.4(SMARCAL1):c.1486-17C>T rs563273567 0.00001
NM_014140.4(SMARCAL1):c.1497G>A (p.Arg499=) rs749708704 0.00001
NM_014140.4(SMARCAL1):c.1500G>T (p.Trp500Cys) rs1694058553 0.00001
NM_014140.4(SMARCAL1):c.1506A>G (p.Pro502=) rs779619746 0.00001
NM_014140.4(SMARCAL1):c.1530C>T (p.Asn510=) rs773199821 0.00001
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) rs768891693 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1567C>T (p.Leu523=) rs1408214634 0.00001
NM_014140.4(SMARCAL1):c.1569G>A (p.Leu523=) rs1694060346 0.00001
NM_014140.4(SMARCAL1):c.1602G>T (p.Lys534Asn) rs1694060940 0.00001
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn) rs753062232 0.00001
NM_014140.4(SMARCAL1):c.1644+12G>A rs746105051 0.00001
NM_014140.4(SMARCAL1):c.1644+16A>G rs1485235439 0.00001
NM_014140.4(SMARCAL1):c.1645-10T>C rs780292291 0.00001
NM_014140.4(SMARCAL1):c.1645-15G>A rs745908524 0.00001
NM_014140.4(SMARCAL1):c.1645-19T>A rs757704897 0.00001
NM_014140.4(SMARCAL1):c.1677T>G (p.Thr559=) rs772822180 0.00001
NM_014140.4(SMARCAL1):c.1682G>A (p.Arg561His) rs760664233 0.00001
NM_014140.4(SMARCAL1):c.1688G>A (p.Arg563Gln) rs770947829 0.00001
NM_014140.4(SMARCAL1):c.1696A>G (p.Met566Val) rs776299636 0.00001
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr) rs765026783 0.00001
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) rs763289234 0.00001
NM_014140.4(SMARCAL1):c.1710+12T>A rs751806334 0.00001
NM_014140.4(SMARCAL1):c.1710+16A>T rs1244102242 0.00001
NM_014140.4(SMARCAL1):c.1710+18C>T rs1694127453 0.00001
NM_014140.4(SMARCAL1):c.1710+20G>A rs1694127613 0.00001
NM_014140.4(SMARCAL1):c.1711-11T>C rs2469012456 0.00001
NM_014140.4(SMARCAL1):c.1727del (p.Ile576fs) rs1265248594 0.00001
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) rs1694331950 0.00001
NM_014140.4(SMARCAL1):c.1755C>G (p.Ser585=) rs778978035 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) rs769553029 0.00001
NM_014140.4(SMARCAL1):c.1842T>C (p.Asp614=) rs759506518 0.00001
NM_014140.4(SMARCAL1):c.1851+12C>T rs768036221 0.00001
NM_014140.4(SMARCAL1):c.1851+3A>G rs781139781 0.00001
NM_014140.4(SMARCAL1):c.1851+8T>C rs994058508 0.00001
NM_014140.4(SMARCAL1):c.1852-7T>C rs1694433340 0.00001
NM_014140.4(SMARCAL1):c.1857T>C (p.Pro619=) rs747604209 0.00001
NM_014140.4(SMARCAL1):c.1859G>A (p.Trp620Ter) rs1294139623 0.00001
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=) rs777370537 0.00001
NM_014140.4(SMARCAL1):c.186T>C (p.Cys62=) rs1293788555 0.00001
NM_014140.4(SMARCAL1):c.1874C>G (p.Ser625Ter) rs150715355 0.00001
NM_014140.4(SMARCAL1):c.1878T>C (p.Gly626=) rs1694435194 0.00001
NM_014140.4(SMARCAL1):c.1887C>T (p.Asn629=) rs1694435504 0.00001
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) rs1360338749 0.00001
NM_014140.4(SMARCAL1):c.1906C>T (p.Leu636=) rs1694435947 0.00001
NM_014140.4(SMARCAL1):c.192A>C (p.Pro64=) rs750575107 0.00001
NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln) rs140515579 0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037 0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) rs1281345070 0.00001
NM_014140.4(SMARCAL1):c.1941G>A (p.Lys647=) rs369105193 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 0.00001
NM_014140.4(SMARCAL1):c.1958A>G (p.Gln653Arg) rs2106055268 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala) rs749447889 0.00001
NM_014140.4(SMARCAL1):c.2016G>A (p.Arg672=) rs1303862591 0.00001
NM_014140.4(SMARCAL1):c.2029C>T (p.Leu677=) rs1694440107 0.00001
NM_014140.4(SMARCAL1):c.2070+11G>A rs780506185 0.00001
NM_014140.4(SMARCAL1):c.2070+9A>T rs2106055533 0.00001
NM_014140.4(SMARCAL1):c.2071-11T>C rs764047401 0.00001
NM_014140.4(SMARCAL1):c.2077C>T (p.Gln693Ter) rs1694788127 0.00001
NM_014140.4(SMARCAL1):c.2142-14A>G rs753258677 0.00001
NM_014140.4(SMARCAL1):c.2175A>G (p.Arg725=) rs2106077186 0.00001
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg) rs1441502670 0.00001
NM_014140.4(SMARCAL1):c.2221A>G (p.Ile741Val) rs748147271 0.00001
NM_014140.4(SMARCAL1):c.2244G>A (p.Lys748=) rs765641883 0.00001
NM_014140.4(SMARCAL1):c.2245-10G>T rs759266842 0.00001
NM_014140.4(SMARCAL1):c.2245-13C>T rs1264882755 0.00001
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) rs775975242 0.00001
NM_014140.4(SMARCAL1):c.2256C>T (p.His752=) rs147417446 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2261G>A (p.Arg754His) rs753533155 0.00001
NM_014140.4(SMARCAL1):c.2265C>A (p.Ile755=) rs962202326 0.00001
NM_014140.4(SMARCAL1):c.2266G>A (p.Asp756Asn) rs545627649 0.00001
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=) rs918169495 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154 0.00001
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) rs1322248626 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) rs763369356 0.00001
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=) rs2066517 0.00001
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu) rs1346269253 0.00001
NM_014140.4(SMARCAL1):c.2427+10G>A rs372600731 0.00001
NM_014140.4(SMARCAL1):c.2427+12A>G rs751352496 0.00001
NM_014140.4(SMARCAL1):c.2428-12C>G rs761185795 0.00001
NM_014140.4(SMARCAL1):c.2428-13C>T rs1193568602 0.00001
NM_014140.4(SMARCAL1):c.2436C>A (p.Ile812=) rs1194040417 0.00001
NM_014140.4(SMARCAL1):c.2439G>A (p.Gln813=) rs576372231 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014140.4(SMARCAL1):c.2451C>T (p.Arg817=) rs776731591 0.00001
NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=) rs1325176430 0.00001
NM_014140.4(SMARCAL1):c.2478C>T (p.Ser826=) rs367698810 0.00001
NM_014140.4(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461 0.00001
NM_014140.4(SMARCAL1):c.251A>G (p.Gln84Arg) rs1384951552 0.00001
NM_014140.4(SMARCAL1):c.2520C>T (p.Asp840=) rs1325007410 0.00001
NM_014140.4(SMARCAL1):c.2529-16C>T rs1356821327 0.00001
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00001
NM_014140.4(SMARCAL1):c.2529-7C>G rs758029017 0.00001
NM_014140.4(SMARCAL1):c.2529-9C>T rs747803911 0.00001
NM_014140.4(SMARCAL1):c.2535G>C (p.Leu845=) rs777273652 0.00001
NM_014140.4(SMARCAL1):c.2554G>A (p.Val852Ile) rs143378530 0.00001
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) rs1574485907 0.00001
NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161 0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223 0.00001
NM_014140.4(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044 0.00001
NM_014140.4(SMARCAL1):c.2625+10G>A rs867971224 0.00001
NM_014140.4(SMARCAL1):c.2625+7C>T rs1695131526 0.00001
NM_014140.4(SMARCAL1):c.2626-19T>C rs776368717 0.00001
NM_014140.4(SMARCAL1):c.2626-1G>T rs2106094746 0.00001
NM_014140.4(SMARCAL1):c.2626-4G>A rs1468010888 0.00001
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) rs752187073 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2658C>T (p.Phe886=) rs2106094806 0.00001
NM_014140.4(SMARCAL1):c.2676A>G (p.Lys892=) rs778788144 0.00001
NM_014140.4(SMARCAL1):c.2690T>C (p.Met897Thr) rs140370927 0.00001
NM_014140.4(SMARCAL1):c.2692G>A (p.Glu898Lys) rs972374690 0.00001
NM_014140.4(SMARCAL1):c.2699T>C (p.Leu900Pro) rs572658323 0.00001
NM_014140.4(SMARCAL1):c.2742A>G (p.Thr914=) rs560540864 0.00001
NM_014140.4(SMARCAL1):c.2754T>C (p.Ser918=) rs1033156954 0.00001
NM_014140.4(SMARCAL1):c.2764A>G (p.Met922Val) rs767258073 0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) rs755396021 0.00001
NM_014140.4(SMARCAL1):c.2810A>G (p.Lys937Arg) rs375276319 0.00001
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) rs1163886519 0.00001
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr) rs1457757664 0.00001
NM_014140.4(SMARCAL1):c.2844C>T (p.Asp948=) rs971767180 0.00001
NM_014140.4(SMARCAL1):c.2852C>T (p.Thr951Met) rs751084968 0.00001
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=) rs200632025 0.00001
NM_014140.4(SMARCAL1):c.296A>G (p.Lys99Arg) rs149567782 0.00001
NM_014140.4(SMARCAL1):c.29G>T (p.Arg10Met) rs775840273 0.00001
NM_014140.4(SMARCAL1):c.313C>T (p.Pro105Ser) rs372708949 0.00001
NM_014140.4(SMARCAL1):c.314C>T (p.Pro105Leu) rs766284659 0.00001
NM_014140.4(SMARCAL1):c.321C>T (p.Ala107=) rs1308389695 0.00001
NM_014140.4(SMARCAL1):c.330C>A (p.Gly110=) rs1261083376 0.00001
NM_014140.4(SMARCAL1):c.368C>G (p.Ser123Cys) rs1195278398 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.403A>G (p.Lys135Glu) rs1417038083 0.00001
NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter) rs1271242899 0.00001
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326 0.00001
NM_014140.4(SMARCAL1):c.41A>T (p.Glu14Val) rs1693548931 0.00001
NM_014140.4(SMARCAL1):c.443C>T (p.Ala148Val) rs1404591296 0.00001
NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter) rs1264577481 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.50G>A (p.Arg17Gln) rs766393568 0.00001
NM_014140.4(SMARCAL1):c.521A>G (p.Gln174Arg) rs1357917924 0.00001
NM_014140.4(SMARCAL1):c.522A>G (p.Gln174=) rs1291696378 0.00001
NM_014140.4(SMARCAL1):c.527C>T (p.Thr176Ile) rs747775289 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu) rs754147208 0.00001
NM_014140.4(SMARCAL1):c.567G>A (p.Lys189=) rs2469611570 0.00001
NM_014140.4(SMARCAL1):c.573G>A (p.Glu191=) rs1421948727 0.00001
NM_014140.4(SMARCAL1):c.59C>G (p.Ala20Gly) rs1386481163 0.00001
NM_014140.4(SMARCAL1):c.5C>T (p.Ser2Phe) rs771595818 0.00001
NM_014140.4(SMARCAL1):c.609C>T (p.Asn203=) rs749052447 0.00001
NM_014140.4(SMARCAL1):c.60T>C (p.Ala20=) rs1185743249 0.00001
NM_014140.4(SMARCAL1):c.614C>T (p.Ser205Phe) rs768737511 0.00001
NM_014140.4(SMARCAL1):c.624T>C (p.His208=) rs376048935 0.00001
NM_014140.4(SMARCAL1):c.636G>A (p.Glu212=) rs1198764749 0.00001
NM_014140.4(SMARCAL1):c.645G>A (p.Thr215=) rs1165335408 0.00001
NM_014140.4(SMARCAL1):c.648C>T (p.Pro216=) rs753215593 0.00001
NM_014140.4(SMARCAL1):c.662G>T (p.Arg221Ile) rs371098968 0.00001
NM_014140.4(SMARCAL1):c.666C>T (p.Leu222=) rs1693571801 0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) rs751534116 0.00001
NM_014140.4(SMARCAL1):c.678A>G (p.Ser226=) rs1693572603 0.00001
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys) rs753690688 0.00001
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His) rs866396456 0.00001
NM_014140.4(SMARCAL1):c.690C>T (p.Val230=) rs757584821 0.00001
NM_014140.4(SMARCAL1):c.709C>A (p.Gln237Lys) rs754790488 0.00001
NM_014140.4(SMARCAL1):c.720G>A (p.Lys240=) rs778786012 0.00001
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00001
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) rs146658939 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_014140.4(SMARCAL1):c.764A>G (p.Asn255Ser) rs1285863511 0.00001
NM_014140.4(SMARCAL1):c.768G>A (p.Ala256=) rs1436190761 0.00001
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00001
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014140.4(SMARCAL1):c.811+8C>T rs1337475649 0.00001
NM_014140.4(SMARCAL1):c.812-13dup rs1170443846 0.00001
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00001
NM_014140.4(SMARCAL1):c.828G>T (p.Thr276=) rs368683635 0.00001
NM_014140.4(SMARCAL1):c.862+10C>A rs1181220687 0.00001
NM_014140.4(SMARCAL1):c.863-15C>A rs2469620610 0.00001
NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu) rs1297497711 0.00001
NM_014140.4(SMARCAL1):c.887C>T (p.Thr296Met) rs755708465 0.00001
NM_014140.4(SMARCAL1):c.891C>T (p.Val297=) rs1355363936 0.00001
NM_014140.4(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950 0.00001
NM_014140.4(SMARCAL1):c.939C>T (p.Ser313=) rs560174733 0.00001
NM_014140.4(SMARCAL1):c.948T>C (p.Ser316=) rs142455621 0.00001
NM_014140.4(SMARCAL1):c.949G>A (p.Glu317Lys) rs1431549731 0.00001
NM_014140.4(SMARCAL1):c.99T>C (p.His33=) rs2469610670 0.00001
NC_000002.11:g.(?_217279428)_(217281050_?)del
NC_000002.11:g.(?_217279428)_(217347700_?)dup
NC_000002.11:g.(?_217285002)_(217315807_?)dup
NC_000002.11:g.(?_217285012)_(217315797_?)dup
NC_000002.11:g.(?_217303181)_(217308995_?)del
NC_000002.11:g.(?_217311721)_(217311901_?)del
NC_000002.11:g.(?_217311721)_(217347700_?)del
NC_000002.11:g.(?_217311731)_(217311891_?)del
NC_000002.11:g.(?_217339972)_(217343042_?)del
NC_000002.11:g.(?_217339982)_(217340184_?)del
NC_000002.11:g.(?_217341812)_(217341952_?)del
NC_000002.12:g.(?_216414695)_(216416317_?)del
NC_000002.12:g.(?_216416237)_(216416327_?)del
NC_000002.12:g.216370024_216479573inv
NM_001127207.2:c.(1147+1_1148-1)_(1334+1_1335-1)del
NM_014140.3(SMARCAL1):c.-262C>G rs567657407
NM_014140.4(SMARCAL1):c.-82T>C rs886055615
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter) rs758888999
NM_014140.4(SMARCAL1):c.1011C>T (p.Leu337=) rs1693694420
NM_014140.4(SMARCAL1):c.1017C>T (p.Ser339=) rs747330354
NM_014140.4(SMARCAL1):c.1027_1034del (p.Phe343fs) rs2106020733
NM_014140.4(SMARCAL1):c.1051C>T (p.Gln351Ter) rs2469621143
NM_014140.4(SMARCAL1):c.1062T>C (p.Ile354=) rs2106020785
NM_014140.4(SMARCAL1):c.1065G>T (p.Ala355=) rs374876609
NM_014140.4(SMARCAL1):c.1071T>G (p.Phe357Leu) rs776604578
NM_014140.4(SMARCAL1):c.1071del (p.Phe357fs) rs2469621168
NM_014140.4(SMARCAL1):c.1076A>G (p.Gln359Arg) rs1213884759
NM_014140.4(SMARCAL1):c.108T>C (p.Thr36=) rs2106014372
NM_014140.4(SMARCAL1):c.1096+11G>A rs2106020852
NM_014140.4(SMARCAL1):c.1096+12G>A rs1241418118
NM_014140.4(SMARCAL1):c.1096+13T>C rs2469621231
NM_014140.4(SMARCAL1):c.1096+14C>T
NM_014140.4(SMARCAL1):c.1096+14del rs754947882
NM_014140.4(SMARCAL1):c.1096+15T>C rs2469621235
NM_014140.4(SMARCAL1):c.1096+19T>C rs2469621240
NM_014140.4(SMARCAL1):c.1096+9T>C rs2469621220
NM_014140.4(SMARCAL1):c.1097-10G>T rs2106023841
NM_014140.4(SMARCAL1):c.1097-14T>C rs2106023838
NM_014140.4(SMARCAL1):c.1097-7A>G rs2106023849
NM_014140.4(SMARCAL1):c.1097-8C>T rs2106023846
NM_014140.4(SMARCAL1):c.1097_1098del (p.Asp366fs) rs2469625357
NM_014140.4(SMARCAL1):c.110G>C (p.Ser37Thr) rs2469610688
NM_014140.4(SMARCAL1):c.111C>T (p.Ser37=) rs2106014376
NM_014140.4(SMARCAL1):c.1125C>T (p.Leu375=) rs746815850
NM_014140.4(SMARCAL1):c.1131A>G (p.Glu377=) rs2106023897
NM_014140.4(SMARCAL1):c.1132G>T (p.Glu378Ter) rs864309531
NM_014140.4(SMARCAL1):c.113C>T (p.Ser38Leu)
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1147+14C>T rs1693772603
NM_014140.4(SMARCAL1):c.1147+16T>C rs2469625475
NM_014140.4(SMARCAL1):c.1147+19T>C rs1284160098
NM_014140.4(SMARCAL1):c.1147+1G>A rs2469625446
NM_014140.4(SMARCAL1):c.1147+2T>G rs2469625449
NM_014140.4(SMARCAL1):c.1147+9C>T rs2106023929
NM_014140.4(SMARCAL1):c.1148-10T>C rs2106029037
NM_014140.4(SMARCAL1):c.1148-11C>A rs2469633009
NM_014140.4(SMARCAL1):c.1148-12T>C rs2106029033
NM_014140.4(SMARCAL1):c.1148-14G>A rs2469632996
NM_014140.4(SMARCAL1):c.1148-16C>T rs2469632991
NM_014140.4(SMARCAL1):c.1148-17T>C rs1693891295
NM_014140.4(SMARCAL1):c.1148-19C>T
NM_014140.4(SMARCAL1):c.1148-20G>A rs2469632978
NM_014140.4(SMARCAL1):c.1148-20G>T
NM_014140.4(SMARCAL1):c.1148-4T>G rs2106029047
NM_014140.4(SMARCAL1):c.1148-8_1148-6del rs780003181
NM_014140.4(SMARCAL1):c.1148-9T>G rs1559125175
NM_014140.4(SMARCAL1):c.114G>A (p.Ser38=) rs374642503
NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=) rs374642503
NM_014140.4(SMARCAL1):c.1152A>G (p.Ala384=) rs2106029064
NM_014140.4(SMARCAL1):c.1169del (p.Pro390fs) rs1693892555
NM_014140.4(SMARCAL1):c.1170A>G (p.Pro390=) rs368873394
NM_014140.4(SMARCAL1):c.1173A>G (p.Gln391=)
NM_014140.4(SMARCAL1):c.1189_1190dup (p.Pro398fs) rs2469633152
NM_014140.4(SMARCAL1):c.119C>T (p.Thr40Ile) rs1693551035
NM_014140.4(SMARCAL1):c.1200T>C (p.Thr400=) rs773587466
NM_014140.4(SMARCAL1):c.1203C>A (p.Leu401=) rs2106029145
NM_014140.4(SMARCAL1):c.1203C>T (p.Leu401=) rs2106029145
NM_014140.4(SMARCAL1):c.1206C>T (p.Thr402=) rs1221504270
NM_014140.4(SMARCAL1):c.1207C>T (p.Leu403=) rs2106029157
NM_014140.4(SMARCAL1):c.120C>T (p.Thr40=) rs747399047
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs) rs1693893975
NM_014140.4(SMARCAL1):c.1211C>A (p.Ala404Glu) rs761003078
NM_014140.4(SMARCAL1):c.1222C>T (p.Gln408Ter) rs2106029186
NM_014140.4(SMARCAL1):c.1224dup (p.Leu409fs) rs2469633269
NM_014140.4(SMARCAL1):c.1233G>A (p.Lys411=) rs765375901
NM_014140.4(SMARCAL1):c.1242C>G (p.Leu414=) rs1693894681
NM_014140.4(SMARCAL1):c.1245T>C (p.Ser415=) rs2469633311
NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs) rs535448005
NM_014140.4(SMARCAL1):c.124A>T (p.Ile42Phe)
NM_014140.4(SMARCAL1):c.1263dup (p.Glu422fs) rs2106029249
NM_014140.4(SMARCAL1):c.126dup (p.Ala43fs) rs962523270
NM_014140.4(SMARCAL1):c.1272C>T (p.Asp424=)
NM_014140.4(SMARCAL1):c.128C>T (p.Ala43Val)
NM_014140.4(SMARCAL1):c.1290C>G (p.Pro430=) rs2106029265
NM_014140.4(SMARCAL1):c.1293G>A (p.Lys431=) rs2106029267
NM_014140.4(SMARCAL1):c.1296C>G (p.Leu432=)
NM_014140.4(SMARCAL1):c.129T>G (p.Ala43=) rs2106014409
NM_014140.4(SMARCAL1):c.1311G>T (p.Met437Ile)
NM_014140.4(SMARCAL1):c.1313C>T (p.Pro438Leu)
NM_014140.4(SMARCAL1):c.1314C>T (p.Pro438=) rs1444531408
NM_014140.4(SMARCAL1):c.1325C>G (p.Ala442Gly) rs2106029294
NM_014140.4(SMARCAL1):c.1329A>C (p.Gly443=) rs761091116
NM_014140.4(SMARCAL1):c.1331T>A (p.Val444Asp)
NM_014140.4(SMARCAL1):c.1334+11_1334+13del rs2469633572
NM_014140.4(SMARCAL1):c.1334+12A>T rs1693897193
NM_014140.4(SMARCAL1):c.1334+15T>C rs1422007189
NM_014140.4(SMARCAL1):c.1334+1G>A rs1384402545
NM_014140.4(SMARCAL1):c.1335-10C>G rs2468996605
NM_014140.4(SMARCAL1):c.1335-15C>T rs1693992229
NM_014140.4(SMARCAL1):c.1335-7C>T rs2468996610
NM_014140.4(SMARCAL1):c.1344A>C (p.Ile448=) rs2468996654
NM_014140.4(SMARCAL1):c.1352G>C (p.Gly451Ala)
NM_014140.4(SMARCAL1):c.1353A>C (p.Gly451=) rs751622752
NM_014140.4(SMARCAL1):c.1356C>A (p.Gly452=) rs2468996673
NM_014140.4(SMARCAL1):c.1357C>T (p.Arg453Cys)
NM_014140.4(SMARCAL1):c.1363C>T (p.Leu455=) rs2468996688
NM_014140.4(SMARCAL1):c.1368C>T (p.Leu456=) rs754695954
NM_014140.4(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.4(SMARCAL1):c.1384C>T (p.Leu462=) rs2106033574
NM_014140.4(SMARCAL1):c.1399C>T (p.Gln467Ter) rs2106033603
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro) rs1693994454
NM_014140.4(SMARCAL1):c.1404C>T (p.Ala468=)
NM_014140.4(SMARCAL1):c.1414G>T (p.Ala472Ser)
NM_014140.4(SMARCAL1):c.1415C>T (p.Ala472Val) rs1559126517
NM_014140.4(SMARCAL1):c.1419C>T (p.Ala473=) rs1216850725
NM_014140.4(SMARCAL1):c.1426del (p.Arg476fs) rs750721291
NM_014140.4(SMARCAL1):c.1433A>G (p.Glu478Gly) rs2106033669
NM_014140.4(SMARCAL1):c.1434G>T (p.Glu478Asp) rs764951616
NM_014140.4(SMARCAL1):c.1437dup (p.Pro480fs) rs758672665
NM_014140.4(SMARCAL1):c.1440G>C (p.Pro480=) rs367557310
NM_014140.4(SMARCAL1):c.1442T>C (p.Leu481Pro) rs2106033691
NM_014140.4(SMARCAL1):c.1450G>A (p.Val484Met) rs2468996882
NM_014140.4(SMARCAL1):c.1453G>T (p.Val485Leu) rs1574456834
NM_014140.4(SMARCAL1):c.1458A>C (p.Pro486=) rs2106033735
NM_014140.4(SMARCAL1):c.1458A>G (p.Pro486=) rs2106033735
NM_014140.4(SMARCAL1):c.1461C>G (p.Ser487=) rs2106033740
NM_014140.4(SMARCAL1):c.1467G>T (p.Val489=) rs145525014
NM_014140.4(SMARCAL1):c.1475C>T (p.Thr492Ile) rs2468996927
NM_014140.4(SMARCAL1):c.147C>G (p.Ala49=) rs2106014428
NM_014140.4(SMARCAL1):c.1482G>A (p.Glu494=) rs2468996943
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.4(SMARCAL1):c.1485+15A>G
NM_014140.4(SMARCAL1):c.1485+18T>G rs2468996969
NM_014140.4(SMARCAL1):c.1485+19G>T rs375163259
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.1486-10T>C rs2469000344
NM_014140.4(SMARCAL1):c.1486-11G>C rs1317925714
NM_014140.4(SMARCAL1):c.1486-14C>A rs891837551
NM_014140.4(SMARCAL1):c.1486-4A>G rs2106036956
NM_014140.4(SMARCAL1):c.1486-5C>A rs2469000351
NM_014140.4(SMARCAL1):c.1486-6C>T rs1390292771
NM_014140.4(SMARCAL1):c.1486-7T>C rs2469000350
NM_014140.4(SMARCAL1):c.1486-8A>T rs2106036950
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=) rs1694058200
NM_014140.4(SMARCAL1):c.148A>G (p.Lys50Glu) rs2106014433
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter) rs1694058443
NM_014140.4(SMARCAL1):c.1503G>A (p.Leu501=) rs1694058602
NM_014140.4(SMARCAL1):c.1503G>C (p.Leu501=) rs1694058602
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs) rs1694058662
NM_014140.4(SMARCAL1):c.1506A>T (p.Pro502=) rs779619746
NM_014140.4(SMARCAL1):c.1510C>T (p.Leu504=) rs2106036995
NM_014140.4(SMARCAL1):c.1517del (p.Pro506fs) rs1226835488
NM_014140.4(SMARCAL1):c.1524C>T (p.Cys508=) rs2469000421
NM_014140.4(SMARCAL1):c.1529A>G (p.Asn510Ser) rs772559717
NM_014140.4(SMARCAL1):c.1536G>A (p.Val512=) rs1175925195
NM_014140.4(SMARCAL1):c.1536G>C (p.Val512=) rs1175925195
NM_014140.4(SMARCAL1):c.1544_1569del (p.Gly515fs) rs1694059874
NM_014140.4(SMARCAL1):c.1555C>T (p.Leu519=)
NM_014140.4(SMARCAL1):c.1557G>A (p.Leu519=) rs2106037082
NM_014140.4(SMARCAL1):c.1563T>C (p.Ala521=) rs2106037088
NM_014140.4(SMARCAL1):c.1566C>T (p.Gly522=) rs2469000500
NM_014140.4(SMARCAL1):c.1569G>C (p.Leu523=) rs1694060346
NM_014140.4(SMARCAL1):c.156C>A (p.Gly52=) rs2106014444
NM_014140.4(SMARCAL1):c.1572C>A (p.Ile524=) rs749951090
NM_014140.4(SMARCAL1):c.1578T>C (p.Ile526=) rs2469000526
NM_014140.4(SMARCAL1):c.1579G>T (p.Val527Phe) rs1574458759
NM_014140.4(SMARCAL1):c.1580T>G (p.Val527Gly)
NM_014140.4(SMARCAL1):c.1594C>T (p.Leu532Phe) rs968239393
NM_014140.4(SMARCAL1):c.1603T>G (p.Leu535Val) rs978339577
NM_014140.4(SMARCAL1):c.1608A>G (p.Glu536=) rs2106037138
NM_014140.4(SMARCAL1):c.1611del (p.Lys537fs) rs2469000555
NM_014140.4(SMARCAL1):c.1612C>T (p.Gln538Ter) rs571627974
NM_014140.4(SMARCAL1):c.1614G>A (p.Gln538=) rs1320735965
NM_014140.4(SMARCAL1):c.1625del (p.Pro542fs) rs2106037172
NM_014140.4(SMARCAL1):c.1626T>G (p.Pro542=) rs2106037180
NM_014140.4(SMARCAL1):c.162C>T (p.Ser54=) rs2469610782
NM_014140.4(SMARCAL1):c.1632del (p.Val545fs) rs2106037184
NM_014140.4(SMARCAL1):c.1638C>T (p.Val546=) rs2469000614
NM_014140.4(SMARCAL1):c.1638CAT[1] (p.Ile548del)
NM_014140.4(SMARCAL1):c.163C>A (p.Gln55Lys)
NM_014140.4(SMARCAL1):c.1641C>A (p.Ile547=)
NM_014140.4(SMARCAL1):c.1642_1644del (p.Ile548del) rs1475737999
NM_014140.4(SMARCAL1):c.1643T>A (p.Ile548Asn) rs119473036
NM_014140.4(SMARCAL1):c.1644+12G>C
NM_014140.4(SMARCAL1):c.1644+14C>G rs2469000649
NM_014140.4(SMARCAL1):c.1644+17A>G rs2469000658
NM_014140.4(SMARCAL1):c.1644+1G>T rs1694062061
NM_014140.4(SMARCAL1):c.1644+9C>T rs1694062088
NM_014140.4(SMARCAL1):c.1645-11C>T rs770050737
NM_014140.4(SMARCAL1):c.1645-19T>C rs757704897
NM_014140.4(SMARCAL1):c.1645-2A>G rs2106040403
NM_014140.4(SMARCAL1):c.1645-2A>T rs2106040403
NM_014140.4(SMARCAL1):c.1653T>C (p.Ser551=) rs747958443
NM_014140.4(SMARCAL1):c.1657T>A (p.Phe553Ile) rs866600715
NM_014140.4(SMARCAL1):c.165A>G (p.Gln55=) rs2469610791
NM_014140.4(SMARCAL1):c.1662C>G (p.Leu554=) rs2469003523
NM_014140.4(SMARCAL1):c.1672dup (p.Arg558fs)
NM_014140.4(SMARCAL1):c.1677T>A (p.Thr559=) rs772822180
NM_014140.4(SMARCAL1):c.1683C>T (p.Arg561=) rs2469003558
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_014140.4(SMARCAL1):c.1696A>C (p.Met566Leu)
NM_014140.4(SMARCAL1):c.1700C>A (p.Pro567Gln) rs775206136
NM_014140.4(SMARCAL1):c.1700C>T (p.Pro567Leu) rs775206136
NM_014140.4(SMARCAL1):c.1701G>C (p.Pro567=) rs763289234
NM_014140.4(SMARCAL1):c.1704C>T (p.Val568=) rs2469003587
NM_014140.4(SMARCAL1):c.1707A>G (p.Leu569=) rs2469003596
NM_014140.4(SMARCAL1):c.1710+19T>C rs1322428812
NM_014140.4(SMARCAL1):c.1710+2T>C rs2469003600
NM_014140.4(SMARCAL1):c.1711-111G>T rs284550
NM_014140.4(SMARCAL1):c.1711-20T>C rs1306973493
NM_014140.4(SMARCAL1):c.1711-2A>C rs2469012467
NM_014140.4(SMARCAL1):c.1711-9G>A rs927457751
NM_014140.4(SMARCAL1):c.1711-9G>T rs927457751
NM_014140.4(SMARCAL1):c.1716C>T (p.Ala572=) rs2469012473
NM_014140.4(SMARCAL1):c.1722G>A (p.Arg574=) rs768077452
NM_014140.4(SMARCAL1):c.1723G>A (p.Val575Met) rs2106050197
NM_014140.4(SMARCAL1):c.1733T>C (p.Leu578Ser)
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) rs1694331040
NM_014140.4(SMARCAL1):c.1737G>A (p.Ser579=) rs1196663576
NM_014140.4(SMARCAL1):c.1737G>C (p.Ser579=) rs1196663576
NM_014140.4(SMARCAL1):c.1743A>C (p.Thr581=) rs753816248
NM_014140.4(SMARCAL1):c.1746A>G (p.Pro582=) rs2469012520
NM_014140.4(SMARCAL1):c.1751T>C (p.Met584Thr)
NM_014140.4(SMARCAL1):c.1758G>C (p.Arg586=) rs1156923963
NM_014140.4(SMARCAL1):c.1761C>G (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1762G>C (p.Ala588Pro) rs769553029
NM_014140.4(SMARCAL1):c.1767G>A (p.Glu589=) rs2106050314
NM_014140.4(SMARCAL1):c.176G>C (p.Arg59Thr) rs760506303
NM_014140.4(SMARCAL1):c.1770C>G (p.Leu590=) rs2106050320
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1777C>T (p.Gln593Ter) rs2469012558
NM_014140.4(SMARCAL1):c.1784T>G (p.Ile595Ser) rs2469012570
NM_014140.4(SMARCAL1):c.1788A>G (p.Ala596=) rs1310854428
NM_014140.4(SMARCAL1):c.1788A>T (p.Ala596=) rs1310854428
NM_014140.4(SMARCAL1):c.1794G>A (p.Lys598=) rs1228360535
NM_014140.4(SMARCAL1):c.179A>C (p.Glu60Ala) rs766086132
NM_014140.4(SMARCAL1):c.1800T>C (p.Thr600=) rs2469012597
NM_014140.4(SMARCAL1):c.1806C>T (p.Phe602=) rs2469012600
NM_014140.4(SMARCAL1):c.1808C>G (p.Pro603Arg) rs772439671
NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter) rs2469012609
NM_014140.4(SMARCAL1):c.1810dup (p.Gln604fs) rs1559130635
NM_014140.4(SMARCAL1):c.1827A>G (p.Gly609=) rs2469012624
NM_014140.4(SMARCAL1):c.1828C>G (p.Leu610Val) rs2469012625
NM_014140.4(SMARCAL1):c.1831del (p.Arg611fs) rs1253749894
NM_014140.4(SMARCAL1):c.1832G>A (p.Arg611His) rs753996369
NM_014140.4(SMARCAL1):c.1833C>T (p.Arg611=) rs2469012632
NM_014140.4(SMARCAL1):c.1836C>A (p.Tyr612Ter) rs1694335489
NM_014140.4(SMARCAL1):c.183T>C (p.Ser61=) rs1693552763
NM_014140.4(SMARCAL1):c.1847A>G (p.Lys616Arg) rs2469012643
NM_014140.4(SMARCAL1):c.1849C>T (p.Arg617Trp)
NM_014140.4(SMARCAL1):c.1850G>A (p.Arg617Gln) rs199805996
NM_014140.4(SMARCAL1):c.1851+10A>T rs2469012666
NM_014140.4(SMARCAL1):c.1851+17C>G rs369924086
NM_014140.4(SMARCAL1):c.1851+17C>T rs369924086
NM_014140.4(SMARCAL1):c.1851+1G>A rs1367550528
NM_014140.4(SMARCAL1):c.1851+1G>T
NM_014140.4(SMARCAL1):c.1852-16G>A
NM_014140.4(SMARCAL1):c.1852-19G>T rs144613441
NM_014140.4(SMARCAL1):c.1852-7T>G rs1694433340
NM_014140.4(SMARCAL1):c.1855C>T (p.Pro619Ser) rs778421852
NM_014140.4(SMARCAL1):c.1857T>A (p.Pro619=) rs747604209
NM_014140.4(SMARCAL1):c.1860G>A (p.Trp620Ter) rs909012139
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1860G>T (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1866G>A (p.Trp622Ter) rs1330853690
NM_014140.4(SMARCAL1):c.1871A>G (p.Tyr624Cys)
NM_014140.4(SMARCAL1):c.1872C>T (p.Tyr624=) rs1694434888
NM_014140.4(SMARCAL1):c.1875A>G (p.Ser625=) rs1276513735
NM_014140.4(SMARCAL1):c.1881del (p.Ser628fs) rs990873729
NM_014140.4(SMARCAL1):c.1884C>T (p.Ser628=) rs2106055126
NM_014140.4(SMARCAL1):c.1890G>A (p.Leu630=) rs2469016979
NM_014140.4(SMARCAL1):c.1905C>T (p.Leu635=) rs763105313
NM_014140.4(SMARCAL1):c.1910T>C (p.Leu637Pro) rs2106055162
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs) rs1694436267
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014140.4(SMARCAL1):c.1932G>A (p.Arg644=) rs1694436571
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs) rs1694436631
NM_014140.4(SMARCAL1):c.1936dup (p.Leu646fs) rs2469017048
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014140.4(SMARCAL1):c.1945_1951del (p.Asp649fs) rs2469017057
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) rs2066526
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.1952_1953inv (p.Leu651Gln)
NM_014140.4(SMARCAL1):c.195G>A (p.Val65=) rs2106014502
NM_014140.4(SMARCAL1):c.1970A>G (p.Lys657Arg)
NM_014140.4(SMARCAL1):c.1971G>A (p.Lys657=) rs1191080990
NM_014140.4(SMARCAL1):c.1982T>G (p.Ile661Arg) rs1694438183
NM_014140.4(SMARCAL1):c.1987G>T (p.Val663Leu) rs1694438371
NM_014140.4(SMARCAL1):c.1992T>A (p.Ile664=) rs2469017124
NM_014140.4(SMARCAL1):c.1998A>C (p.Pro666=) rs2106055354
NM_014140.4(SMARCAL1):c.1998A>G (p.Pro666=) rs2106055354
NM_014140.4(SMARCAL1):c.199C>A (p.His67Asn) rs1693553354
NM_014140.4(SMARCAL1):c.2002C>A (p.Arg668=) rs189863563
NM_014140.4(SMARCAL1):c.2004G>A (p.Arg668=) rs369431487
NM_014140.4(SMARCAL1):c.2007C>A (p.Ile669=) rs1694439315
NM_014140.4(SMARCAL1):c.200A>C (p.His67Pro) rs765151021
NM_014140.4(SMARCAL1):c.200A>G (p.His67Arg)
NM_014140.4(SMARCAL1):c.2014A>G (p.Arg672Gly) rs1694439518
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) rs1303862591
NM_014140.4(SMARCAL1):c.201T>C (p.His67=) rs920918007
NM_014140.4(SMARCAL1):c.2020A>T (p.Arg674Ter) rs2469017174
NM_014140.4(SMARCAL1):c.2025T>C (p.Ala675=) rs2469017181
NM_014140.4(SMARCAL1):c.2028C>T (p.Ala676=) rs751044842
NM_014140.4(SMARCAL1):c.2044A>G (p.Lys682Glu) rs2469017213
NM_014140.4(SMARCAL1):c.2045A>G (p.Lys682Arg) rs2469017218
NM_014140.4(SMARCAL1):c.2046G>C (p.Lys682Asn) rs2469017220
NM_014140.4(SMARCAL1):c.2049A>G (p.Glu683=)
NM_014140.4(SMARCAL1):c.204T>C (p.Gly68=) rs2469610878
NM_014140.4(SMARCAL1):c.2055C>T (p.Thr685=) rs2106055478
NM_014140.4(SMARCAL1):c.2065_2070delinsGAAACC (p.Lys689Glu)
NM_014140.4(SMARCAL1):c.2070+15G>A rs2469017268
NM_014140.4(SMARCAL1):c.2070+2_2070+3del
NM_014140.4(SMARCAL1):c.2070+8C>T rs2469017260
NM_014140.4(SMARCAL1):c.2070+9A>G rs2106055533
NM_014140.4(SMARCAL1):c.2071-16_2071-12del rs770601201
NM_014140.4(SMARCAL1):c.2071-18dup rs1461537852
NM_014140.4(SMARCAL1):c.2071-5A>G rs2469032803
NM_014140.4(SMARCAL1):c.2071-6C>A rs2469032799
NM_014140.4(SMARCAL1):c.207C>T (p.Val69=)
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln) rs1694788304
NM_014140.4(SMARCAL1):c.2094C>T (p.Leu698=) rs2106073054
NM_014140.4(SMARCAL1):c.2097T>C (p.Ile699=) rs2106073060
NM_014140.4(SMARCAL1):c.2099T>C (p.Leu700Pro) rs1326865663
NM_014140.4(SMARCAL1):c.209T>G (p.Ile70Ser) rs2106014513
NM_014140.4(SMARCAL1):c.2106C>T (p.Phe702=) rs2106073081
NM_014140.4(SMARCAL1):c.2110A>G (p.Arg704Gly)
NM_014140.4(SMARCAL1):c.2114C>G (p.Thr705Arg)
NM_014140.4(SMARCAL1):c.2128dup (p.Ile710fs) rs2469032860
NM_014140.4(SMARCAL1):c.2132C>T (p.Pro711Leu)
NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu) rs2106073109
NM_014140.4(SMARCAL1):c.2133A>G (p.Pro711=) rs947619356
NM_014140.4(SMARCAL1):c.2136T>C (p.Ser712=) rs2469032887
NM_014140.4(SMARCAL1):c.2141+10C>T rs1574477107
NM_014140.4(SMARCAL1):c.2141+11A>C rs754205854
NM_014140.4(SMARCAL1):c.2141+17T>A rs2066516
NM_014140.4(SMARCAL1):c.2141+18G>A rs368504584
NM_014140.4(SMARCAL1):c.2141+18G>C rs368504584
NM_014140.4(SMARCAL1):c.2141+1G>A rs1694789584
NM_014140.4(SMARCAL1):c.2141+3A>C
NM_014140.4(SMARCAL1):c.2141+5G>A rs2106073127
NM_014140.4(SMARCAL1):c.2141+7G>T rs1559135620
NM_014140.4(SMARCAL1):c.2141+8G>T rs374825915
NM_014140.4(SMARCAL1):c.2142-10T>A
NM_014140.4(SMARCAL1):c.2142-14A>C
NM_014140.4(SMARCAL1):c.2142T>G (p.Ile714Met)
NM_014140.4(SMARCAL1):c.2147A>G (p.Tyr716Cys)
NM_014140.4(SMARCAL1):c.2148T>C (p.Tyr716=) rs2106077140
NM_014140.4(SMARCAL1):c.2157C>G (p.Asp719Glu) rs1434893237
NM_014140.4(SMARCAL1):c.2161C>A (p.Leu721Met)
NM_014140.4(SMARCAL1):c.2161C>T (p.Leu721=) rs777864814
NM_014140.4(SMARCAL1):c.2169T>C (p.Ser723=) rs1694865869
NM_014140.4(SMARCAL1):c.216G>A (p.Lys72=) rs2106014514
NM_014140.4(SMARCAL1):c.2172A>G (p.Gly724=) rs1694866009
NM_014140.4(SMARCAL1):c.2181G>A (p.Lys727=) rs1694866311
NM_014140.4(SMARCAL1):c.2200_2212del (p.His734fs) rs2469036788
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg) rs886043438
NM_014140.4(SMARCAL1):c.2203A>G (p.Lys735Glu) rs2469036794
NM_014140.4(SMARCAL1):c.2208G>C (p.Val736=) rs1694867285
NM_014140.4(SMARCAL1):c.2216A>C (p.Asp739Ala) rs2469036805
NM_014140.4(SMARCAL1):c.2226G>C (p.Thr742=) rs2271335
NM_014140.4(SMARCAL1):c.2226G>T (p.Thr742=) rs2271335
NM_014140.4(SMARCAL1):c.222G>A (p.Gln74=) rs2469610902
NM_014140.4(SMARCAL1):c.2232G>A (p.Glu744=) rs2106077314
NM_014140.4(SMARCAL1):c.2238G>A (p.Glu746=) rs1191687480
NM_014140.4(SMARCAL1):c.223_239del (p.Gln74_Asn75insTer) rs2469610905
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met) rs369634860
NM_014140.4(SMARCAL1):c.2244+10C>T rs1694868999
NM_014140.4(SMARCAL1):c.2244+17A>G rs2106077346
NM_014140.4(SMARCAL1):c.2244+18T>C
NM_014140.4(SMARCAL1):c.2244+1G>A rs2469036894
NM_014140.4(SMARCAL1):c.2244+8C>G rs1694868930
NM_014140.4(SMARCAL1):c.2245-11T>C rs2469047444
NM_014140.4(SMARCAL1):c.2245-12T>C rs776211686
NM_014140.4(SMARCAL1):c.2245-17G>T
NM_014140.4(SMARCAL1):c.2245-4G>A rs1348651004
NM_014140.4(SMARCAL1):c.2245-5T>C rs1574484081
NM_014140.4(SMARCAL1):c.2245-6C>T rs2469047460
NM_014140.4(SMARCAL1):c.2245-6del rs2469047456
NM_014140.4(SMARCAL1):c.2245C>T (p.His749Tyr) rs764751292
NM_014140.4(SMARCAL1):c.2248G>A (p.Val750Met) rs763200185
NM_014140.4(SMARCAL1):c.2248_2256dup
NM_014140.4(SMARCAL1):c.2260C>G (p.Arg754Gly) rs1226816517
NM_014140.4(SMARCAL1):c.2271C>T (p.Gly757=) rs1453760252
NM_014140.4(SMARCAL1):c.2277C>T (p.Thr759=) rs2106086332
NM_014140.4(SMARCAL1):c.228C>A (p.Leu76=) rs1181432156
NM_014140.4(SMARCAL1):c.2299C>T (p.Leu767=) rs2106086376
NM_014140.4(SMARCAL1):c.2301G>A (p.Leu767=) rs1292945401
NM_014140.4(SMARCAL1):c.2304C>T (p.Cys768=) rs1414910477
NM_014140.4(SMARCAL1):c.2306A>G (p.Gln769Arg) rs2469047567
NM_014140.4(SMARCAL1):c.2308C>T (p.Gln770Ter) rs1006690042
NM_014140.4(SMARCAL1):c.2309A>G (p.Gln770Arg) rs1353593663
NM_014140.4(SMARCAL1):c.230_237del (p.Ser77fs) rs2469610910
NM_014140.4(SMARCAL1):c.2318T>C (p.Leu773Pro)
NM_014140.4(SMARCAL1):c.2320T>C (p.Ser774Pro) rs2469047593
NM_014140.4(SMARCAL1):c.2321C>A (p.Ser774Ter) rs149425324
NM_014140.4(SMARCAL1):c.2325G>A (p.Glu775=) rs1486727236
NM_014140.4(SMARCAL1):c.2326A>G (p.Arg776Gly)
NM_014140.4(SMARCAL1):c.2332G>A (p.Ala778Thr) rs746945317
NM_014140.4(SMARCAL1):c.2333C>A (p.Ala778Asp) rs770954000
NM_014140.4(SMARCAL1):c.2333C>G (p.Ala778Gly) rs770954000
NM_014140.4(SMARCAL1):c.2337G>A (p.Val779=) rs2469047623
NM_014140.4(SMARCAL1):c.2340C>A (p.Ala780=) rs780778758
NM_014140.4(SMARCAL1):c.2340C>G (p.Ala780=) rs780778758
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.2343G>A (p.Val781=) rs373292571
NM_014140.4(SMARCAL1):c.2343G>T (p.Val781=) rs373292571
NM_014140.4(SMARCAL1):c.2346G>A (p.Leu782=) rs1189443349
NM_014140.4(SMARCAL1):c.2350A>G (p.Ile784Val) rs2469047652
NM_014140.4(SMARCAL1):c.2355C>A (p.Thr785=) rs560510661
NM_014140.4(SMARCAL1):c.2376C>G (p.Thr792=) rs2469047713
NM_014140.4(SMARCAL1):c.237A>G (p.Ser79=) rs2469610925
NM_014140.4(SMARCAL1):c.2388T>C (p.Ala796=) rs2106086500
NM_014140.4(SMARCAL1):c.2391C>T (p.Asp797=) rs1695051788
NM_014140.4(SMARCAL1):c.2392C>T (p.Leu798=) rs1275932268
NM_014140.4(SMARCAL1):c.2392del (p.Leu798fs) rs2469047745
NM_014140.4(SMARCAL1):c.2395G>A (p.Val799Met)
NM_014140.4(SMARCAL1):c.2403T>C (p.Phe801=) rs2106086540
NM_014140.4(SMARCAL1):c.2406T>C (p.Ala802=) rs750552430
NM_014140.4(SMARCAL1):c.2406T>G (p.Ala802=) rs750552430
NM_014140.4(SMARCAL1):c.2409G>A (p.Glu803=) rs2106086554
NM_014140.4(SMARCAL1):c.2410C>T (p.Leu804=) rs2469047785
NM_014140.4(SMARCAL1):c.2415T>C (p.Phe805=) rs2469047793
NM_014140.4(SMARCAL1):c.241A>G (p.Asn81Asp)
NM_014140.4(SMARCAL1):c.2421C>T (p.Asn807=) rs2106086558
NM_014140.4(SMARCAL1):c.2423del (p.Pro808fs)
NM_014140.4(SMARCAL1):c.2424del (p.Val810fs) rs2106086566
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg) rs1695052762
NM_014140.4(SMARCAL1):c.2427+10G>T rs372600731
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2427+7G>C rs2106086579
NM_014140.4(SMARCAL1):c.2428-12C>T rs761185795
NM_014140.4(SMARCAL1):c.2428-17A>G rs2106088478
NM_014140.4(SMARCAL1):c.2428-7C>T rs377552471
NM_014140.4(SMARCAL1):c.2428-8A>G rs2106088505
NM_014140.4(SMARCAL1):c.2436C>T (p.Ile812=) rs1194040417
NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys) rs794727171
NM_014140.4(SMARCAL1):c.2460C>T (p.Arg820=) rs2469050213
NM_014140.4(SMARCAL1):c.2472C>G (p.Thr824=) rs1338342544
NM_014140.4(SMARCAL1):c.2473A>G (p.Ser825Gly)
NM_014140.4(SMARCAL1):c.2481G>A (p.Val827=) rs2106088586
NM_014140.4(SMARCAL1):c.2507del (p.Gly836fs) rs2106088642
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs) rs1693554666
NM_014140.4(SMARCAL1):c.2511A>G (p.Thr837=) rs2106088658
NM_014140.4(SMARCAL1):c.2517T>C (p.Asp839=) rs2106088665
NM_014140.4(SMARCAL1):c.2526T>A (p.Leu842=) rs1398418026
NM_014140.4(SMARCAL1):c.2527T>C (p.Trp843Arg) rs1323958612
NM_014140.4(SMARCAL1):c.2528+1G>A rs1559138957
NM_014140.4(SMARCAL1):c.2528+6G>C rs2469050394
NM_014140.4(SMARCAL1):c.2528+7_2528+15del rs1407247119
NM_014140.4(SMARCAL1):c.2528+9T>G rs2469050398
NM_014140.4(SMARCAL1):c.2529-12T>G rs778331995
NM_014140.4(SMARCAL1):c.2529-19G>C
NM_014140.4(SMARCAL1):c.2529-4A>C rs886042978
NM_014140.4(SMARCAL1):c.2529-4A>T rs886042978
NM_014140.4(SMARCAL1):c.2529-5A>G rs2106089814
NM_014140.4(SMARCAL1):c.2529-9C>G rs747803911
NM_014140.4(SMARCAL1):c.2529G>A (p.Trp843Ter) rs2469051879
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387
NM_014140.4(SMARCAL1):c.2535G>A (p.Leu845=) rs777273652
NM_014140.4(SMARCAL1):c.2538T>A (p.Ile846=)
NM_014140.4(SMARCAL1):c.2538dup (p.Gln847fs) rs2469051900
NM_014140.4(SMARCAL1):c.2541A>G (p.Gln847=)
NM_014140.4(SMARCAL1):c.2549T>C (p.Ile850Thr)
NM_014140.4(SMARCAL1):c.2571G>C (p.Gly857=) rs2469051958
NM_014140.4(SMARCAL1):c.2582C>T (p.Thr861Ile)
NM_014140.4(SMARCAL1):c.2589T>C (p.Phe863=) rs759400963
NM_014140.4(SMARCAL1):c.2589T>G (p.Phe863Leu) rs759400963
NM_014140.4(SMARCAL1):c.2592A>C (p.Ser864=) rs2469051981
NM_014140.4(SMARCAL1):c.2599A>T (p.Thr867Ser) rs2469051992
NM_014140.4(SMARCAL1):c.25C>G (p.Gln9Glu) rs2469610527
NM_014140.4(SMARCAL1):c.2610T>C (p.Thr870=) rs2469052025
NM_014140.4(SMARCAL1):c.2619C>G (p.Leu873=) rs1346035671
NM_014140.4(SMARCAL1):c.261T>C (p.His87=)
NM_014140.4(SMARCAL1):c.261del (p.His87fs) rs2469610974
NM_014140.4(SMARCAL1):c.2622C>T (p.Tyr874=) rs2106089952
NM_014140.4(SMARCAL1):c.2625+15T>A rs751937471
NM_014140.4(SMARCAL1):c.2625+1G>T rs2106089962
NM_014140.4(SMARCAL1):c.2625+8C>G rs2469052075
NM_014140.4(SMARCAL1):c.2625+9A>G rs1695131578
NM_014140.4(SMARCAL1):c.2626-11C>G rs759490867
NM_014140.4(SMARCAL1):c.2626-11C>T rs759490867
NM_014140.4(SMARCAL1):c.2626-15C>A rs1258608810
NM_014140.4(SMARCAL1):c.2626-5T>C
NM_014140.4(SMARCAL1):c.2637G>A (p.Gln879=)
NM_014140.4(SMARCAL1):c.2652C>T (p.Asp884=) rs756906652
NM_014140.4(SMARCAL1):c.2655A>G (p.Leu885=) rs2469057476
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) rs1460396872
NM_014140.4(SMARCAL1):c.2664G>A (p.Lys888=) rs756737042
NM_014140.4(SMARCAL1):c.2667C>T (p.Ser889=) rs2106094842
NM_014140.4(SMARCAL1):c.2670T>C (p.Phe890=) rs2469057500
NM_014140.4(SMARCAL1):c.2679A>G (p.Glu893=) rs2106094871
NM_014140.4(SMARCAL1):c.2682A>G (p.Gly894=) rs1219295982
NM_014140.4(SMARCAL1):c.2687A>C (p.Asp896Ala) rs1695229421
NM_014140.4(SMARCAL1):c.2697C>T (p.Leu899=) rs2469057547
NM_014140.4(SMARCAL1):c.269A>C (p.His90Pro)
NM_014140.4(SMARCAL1):c.2700G>C (p.Leu900=) rs2106094916
NM_014140.4(SMARCAL1):c.270_271del (p.His90fs) rs1574443133
NM_014140.4(SMARCAL1):c.2715C>T (p.Ser905=) rs745630321
NM_014140.4(SMARCAL1):c.2721C>T (p.Asp907=) rs2469057584
NM_014140.4(SMARCAL1):c.2724A>G (p.Pro908=) rs2469057586
NM_014140.4(SMARCAL1):c.272G>T (p.Ser91Ile)
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu) rs1695230816
NM_014140.4(SMARCAL1):c.273T>C (p.Ser91=) rs1270372276
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) rs886044051
NM_014140.4(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.4(SMARCAL1):c.2775C>G (p.Thr925=) rs1322304292
NM_014140.4(SMARCAL1):c.2775C>T (p.Thr925=) rs1322304292
NM_014140.4(SMARCAL1):c.2782G>A (p.Glu928Lys) rs1695231842
NM_014140.4(SMARCAL1):c.279G>A (p.Gln93=) rs2106014599
NM_014140.4(SMARCAL1):c.2802T>C (p.Ser934=) rs748203422
NM_014140.4(SMARCAL1):c.2803C>G (p.Pro935Ala) rs2469057758
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) rs774004064
NM_014140.4(SMARCAL1):c.2826A>G (p.Glu942=) rs2469057798
NM_014140.4(SMARCAL1):c.2829T>C (p.Phe943=) rs2469057803
NM_014140.4(SMARCAL1):c.2832dup (p.Asp945Ter) rs759257705
NM_014140.4(SMARCAL1):c.2838C>G (p.Asn946Lys)
NM_014140.4(SMARCAL1):c.2838C>T (p.Asn946=) rs2106095078
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys) rs1168400155
NM_014140.4(SMARCAL1):c.2856T>C (p.Ser952=) rs2469057882
NM_014140.4(SMARCAL1):c.2862G>A (p.Leu954=) rs1473095593
NM_014140.4(SMARCAL1):c.300G>A (p.Lys100=) rs1206614091
NM_014140.4(SMARCAL1):c.305_319del (p.Glu102_Thr106del)
NM_014140.4(SMARCAL1):c.315C>T (p.Pro105=)
NM_014140.4(SMARCAL1):c.319G>A (p.Ala107Thr) rs2469611056
NM_014140.4(SMARCAL1):c.322T>C (p.Cys108Arg) rs2469611065
NM_014140.4(SMARCAL1):c.325C>T (p.Pro109Ser) rs1315060813
NM_014140.4(SMARCAL1):c.333C>T (p.His111=) rs2106014658
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs) rs1693556617
NM_014140.4(SMARCAL1):c.33A>G (p.Lys11=) rs2469610544
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys) rs202031614
NM_014140.4(SMARCAL1):c.342T>C (p.Arg114=) rs1244651247
NM_014140.4(SMARCAL1):c.348A>G (p.Gln116=) rs772275806
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val) rs1693557419
NM_014140.4(SMARCAL1):c.366C>A (p.Ile122=) rs1373525644
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) rs1574443257
NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser) rs1559120849
NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=) rs2106014724
NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter) rs762590281
NM_014140.4(SMARCAL1):c.383A>G (p.Gln128Arg)
NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=) rs947471355
NM_014140.4(SMARCAL1):c.389C>T (p.Pro130Leu)
NM_014140.4(SMARCAL1):c.396G>A (p.Glu132=) rs1693558317
NM_014140.4(SMARCAL1):c.407A>G (p.Gln136Arg)
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter) rs2106014776
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys) rs1296535575
NM_014140.4(SMARCAL1):c.424G>A (p.Glu142Lys) rs756864375
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) rs767158204
NM_014140.4(SMARCAL1):c.426del (p.Glu142fs) rs2469611284
NM_014140.4(SMARCAL1):c.427_430del (p.Leu143fs) rs1693559368
NM_014140.4(SMARCAL1):c.429A>G (p.Leu143=) rs2469611291
NM_014140.4(SMARCAL1):c.429_430insTGATTTA (p.Gly144Ter) rs2469611287
NM_014140.4(SMARCAL1):c.432T>C (p.Gly144=) rs2106014811
NM_014140.4(SMARCAL1):c.435A>G (p.Gln145=) rs2106014814
NM_014140.4(SMARCAL1):c.453A>G (p.Ser151=) rs780581267
NM_014140.4(SMARCAL1):c.454C>T (p.Pro152Ser) rs1384608239
NM_014140.4(SMARCAL1):c.471A>G (p.Thr157=) rs1340458748
NM_014140.4(SMARCAL1):c.474C>G (p.Pro158=) rs1245140546
NM_014140.4(SMARCAL1):c.474C>T (p.Pro158=) rs1245140546
NM_014140.4(SMARCAL1):c.486A>G (p.Pro162=) rs778973735
NM_014140.4(SMARCAL1):c.488C>T (p.Thr163Ile)
NM_014140.4(SMARCAL1):c.492T>C (p.His164=) rs2469611447
NM_014140.4(SMARCAL1):c.495G>A (p.Lys165=) rs2106014890
NM_014140.4(SMARCAL1):c.498T>C (p.Pro166=) rs2106014896
NM_014140.4(SMARCAL1):c.498del (p.Leu167fs) rs2469611458
NM_014140.4(SMARCAL1):c.499C>T (p.Leu167=) rs2106014899
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034
NM_014140.4(SMARCAL1):c.504C>T (p.Ala168=) rs1693561599
NM_014140.4(SMARCAL1):c.508C>T (p.Pro170Ser) rs745698233
NM_014140.4(SMARCAL1):c.510A>G (p.Pro170=) rs1693561841
NM_014140.4(SMARCAL1):c.519C>G (p.Ser173=) rs2469611486
NM_014140.4(SMARCAL1):c.530del (p.Pro177fs) rs2469611502
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser) rs1693565636
NM_014140.4(SMARCAL1):c.542_543del (p.Ser181fs)
NM_014140.4(SMARCAL1):c.545G>T (p.Gly182Val) rs768649610
NM_014140.4(SMARCAL1):c.545_546delinsAT (p.Gly182Asp)
NM_014140.4(SMARCAL1):c.546A>G (p.Gly182=) rs151122737
NM_014140.4(SMARCAL1):c.54A>G (p.Gln18=)
NM_014140.4(SMARCAL1):c.561T>C (p.Asp187=) rs2469611551
NM_014140.4(SMARCAL1):c.564T>C (p.Ala188=) rs766719997
NM_014140.4(SMARCAL1):c.57G>A (p.Lys19=) rs2469610577
NM_014140.4(SMARCAL1):c.580_583dup (p.Ala195fs) rs2469611590
NM_014140.4(SMARCAL1):c.581C>G (p.Thr194Arg)
NM_014140.4(SMARCAL1):c.581C>T (p.Thr194Ile)
NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=) rs2469611627
NM_014140.4(SMARCAL1):c.588dup (p.Ala197fs) rs2469611631
NM_014140.4(SMARCAL1):c.591C>G (p.Ala197=) rs752739012
NM_014140.4(SMARCAL1):c.591C>T (p.Ala197=) rs752739012
NM_014140.4(SMARCAL1):c.596C>A (p.Pro199His) rs1693568131
NM_014140.4(SMARCAL1):c.597T>C (p.Pro199=) rs758479373
NM_014140.4(SMARCAL1):c.598dup (p.Ser200fs)
NM_014140.4(SMARCAL1):c.603G>A (p.Gly201=) rs35048226
NM_014140.4(SMARCAL1):c.604C>A (p.Gln202Lys)
NM_014140.4(SMARCAL1):c.609del (p.Asn203fs) rs2106015063
NM_014140.4(SMARCAL1):c.617dup (p.Tyr206Ter)
NM_014140.4(SMARCAL1):c.622del (p.His208fs) rs751582760
NM_014140.4(SMARCAL1):c.629G>T (p.Ser210Ile) rs760336986
NM_014140.4(SMARCAL1):c.630C>T (p.Ser210=) rs2106015091
NM_014140.4(SMARCAL1):c.638G>T (p.Ser213Ile) rs754228770
NM_014140.4(SMARCAL1):c.641dup (p.Thr215fs) rs2106015104
NM_014140.4(SMARCAL1):c.645G>C (p.Thr215=) rs1165335408
NM_014140.4(SMARCAL1):c.64del (p.Ala22fs)
NM_014140.4(SMARCAL1):c.651G>T (p.Arg217Ser)
NM_014140.4(SMARCAL1):c.660A>C (p.Gly220=) rs2469611863
NM_014140.4(SMARCAL1):c.667C>T (p.Gln223Ter) rs2469611876
NM_014140.4(SMARCAL1):c.668A>C (p.Gln223Pro) rs1316299314
NM_014140.4(SMARCAL1):c.669G>A (p.Gln223=) rs1350600578
NM_014140.4(SMARCAL1):c.674A>G (p.Lys225Arg) rs1378058989
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu) rs1693572522
NM_014140.4(SMARCAL1):c.687A>C (p.Ser229=) rs922754263
NM_014140.4(SMARCAL1):c.687A>T (p.Ser229=)
NM_014140.4(SMARCAL1):c.68G>C (p.Arg23Pro) rs866396456
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His) rs985760536
NM_014140.4(SMARCAL1):c.693A>G (p.Gln231=) rs985760536
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=) rs1574442911
NM_014140.4(SMARCAL1):c.701T>G (p.Val234Gly) rs1184288846
NM_014140.4(SMARCAL1):c.705C>A (p.Asn235Lys) rs749145673
NM_014140.4(SMARCAL1):c.708T>G (p.Ser236=) rs2469612000
NM_014140.4(SMARCAL1):c.709C>T (p.Gln237Ter)
NM_014140.4(SMARCAL1):c.711G>A (p.Gln237=) rs2469612011
NM_014140.4(SMARCAL1):c.714G>C (p.Lys238Asn) rs2106015223
NM_014140.4(SMARCAL1):c.717A>G (p.Gly239=) rs1574443774
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387
NM_014140.4(SMARCAL1):c.724G>T (p.Val242Leu) rs375140716
NM_014140.4(SMARCAL1):c.734G>A (p.Gly245Asp) rs1574443795
NM_014140.4(SMARCAL1):c.735C>G (p.Gly245=) rs149510554
NM_014140.4(SMARCAL1):c.738T>C (p.Asp246=) rs765629645
NM_014140.4(SMARCAL1):c.740G>C (p.Arg247Pro)
NM_014140.4(SMARCAL1):c.744C>T (p.Phe248=) rs1325941966
NM_014140.4(SMARCAL1):c.746A>G (p.Gln249Arg) rs2469612059
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu) rs1693575449
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr) rs1693575527
NM_014140.4(SMARCAL1):c.756T>A (p.Ile252=) rs1559121131
NM_014140.4(SMARCAL1):c.759G>A (p.Gly253=) rs775918083
NM_014140.4(SMARCAL1):c.761A>C (p.Tyr254Ser) rs368040473
NM_014140.4(SMARCAL1):c.761A>G (p.Tyr254Cys) rs368040473
NM_014140.4(SMARCAL1):c.762C>T (p.Tyr254=) rs763529206
NM_014140.4(SMARCAL1):c.763A>G (p.Asn255Asp) rs2106015300
NM_014140.4(SMARCAL1):c.769G>T (p.Glu257Ter) rs757390175
NM_014140.4(SMARCAL1):c.777T>C (p.Ile259=) rs1359695954
NM_014140.4(SMARCAL1):c.786T>C (p.Phe262=) rs2106015356
NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter) rs1693577284
NM_014140.4(SMARCAL1):c.792C>A (p.Thr264=) rs2106015360
NM_014140.4(SMARCAL1):c.798C>A (p.Pro266=) rs746568102
NM_014140.4(SMARCAL1):c.7T>G (p.Leu3Val)
NM_014140.4(SMARCAL1):c.804G>C (p.Lys268Asn) rs1281755747
NM_014140.4(SMARCAL1):c.807T>C (p.Asn269=) rs1574443924
NM_014140.4(SMARCAL1):c.811+10T>C rs2106015428
NM_014140.4(SMARCAL1):c.811+38del rs5838583
NM_014140.4(SMARCAL1):c.811+6G>A rs1269883110
NM_014140.4(SMARCAL1):c.811+6G>T
NM_014140.4(SMARCAL1):c.812-12G>C rs756815749
NM_014140.4(SMARCAL1):c.812-14_812-13del rs764741130
NM_014140.4(SMARCAL1):c.812-19G>A rs2469613975
NM_014140.4(SMARCAL1):c.812-2A>G rs1248072601
NM_014140.4(SMARCAL1):c.812-4T>C rs780691746
NM_014140.4(SMARCAL1):c.812-8T>C rs2106016234
NM_014140.4(SMARCAL1):c.828G>A (p.Thr276=) rs368683635
NM_014140.4(SMARCAL1):c.837del (p.Phe279fs) rs2469614800
NM_014140.4(SMARCAL1):c.840C>T (p.Ser280=) rs1319279010
NM_014140.4(SMARCAL1):c.841A>G (p.Met281Val) rs1382103008
NM_014140.4(SMARCAL1):c.852T>C (p.Tyr284=) rs1207882176
NM_014140.4(SMARCAL1):c.858C>T (p.Ala286=) rs1693600280
NM_014140.4(SMARCAL1):c.859C>T (p.Leu287=) rs1693600329
NM_014140.4(SMARCAL1):c.862+10C>T rs1181220687
NM_014140.4(SMARCAL1):c.862+12C>T rs2469614897
NM_014140.4(SMARCAL1):c.862+16G>A rs2469614907
NM_014140.4(SMARCAL1):c.862+19G>A rs757189841
NM_014140.4(SMARCAL1):c.862+6T>A
NM_014140.4(SMARCAL1):c.862+9A>C rs1368034714
NM_014140.4(SMARCAL1):c.863-17TTC[2] rs762653086
NM_014140.4(SMARCAL1):c.863-19G>A rs759688511
NM_014140.4(SMARCAL1):c.863-4G>T rs1693689203
NM_014140.4(SMARCAL1):c.863-6T>G rs2106020481
NM_014140.4(SMARCAL1):c.867A>G (p.Lys289=) rs2469620660
NM_014140.4(SMARCAL1):c.876G>A (p.Gln292=) rs2469620675
NM_014140.4(SMARCAL1):c.87G>A (p.Leu29=) rs2106014329
NM_014140.4(SMARCAL1):c.882C>G (p.Leu294=) rs1461564896
NM_014140.4(SMARCAL1):c.882C>T (p.Leu294=) rs1461564896
NM_014140.4(SMARCAL1):c.885C>A (p.Pro295=) rs1394254789
NM_014140.4(SMARCAL1):c.885C>T (p.Pro295=) rs1394254789
NM_014140.4(SMARCAL1):c.886del (p.Thr296fs) rs2469620696
NM_014140.4(SMARCAL1):c.888_889del (p.Val297fs) rs2469620729
NM_014140.4(SMARCAL1):c.894C>T (p.Asn298=) rs2469620743
NM_014140.4(SMARCAL1):c.895C>A (p.Leu299Met) rs2106020536
NM_014140.4(SMARCAL1):c.895C>T (p.Leu299=) rs2106020536
NM_014140.4(SMARCAL1):c.907G>T (p.Glu303Ter) rs2469620766
NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=) rs2469610643
NM_014140.4(SMARCAL1):c.912G>T (p.Trp304Cys) rs778664200
NM_014140.4(SMARCAL1):c.91G>A (p.Glu31Lys)
NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly) rs1237615679
NM_014140.4(SMARCAL1):c.933A>G (p.Ser311=)
NM_014140.4(SMARCAL1):c.934C>A (p.Pro312Thr)
NM_014140.4(SMARCAL1):c.934C>G (p.Pro312Ala) rs1489975642
NM_014140.4(SMARCAL1):c.936C>G (p.Pro312=) rs771409283
NM_014140.4(SMARCAL1):c.936C>T (p.Pro312=)
NM_014140.4(SMARCAL1):c.939C>A (p.Ser313=) rs560174733
NM_014140.4(SMARCAL1):c.942C>T (p.Thr314=) rs2469620879
NM_014140.4(SMARCAL1):c.954A>G (p.Gly318=) rs1693692830
NM_014140.4(SMARCAL1):c.955C>T (p.Gln319Ter) rs2469620922
NM_014140.4(SMARCAL1):c.959C>T (p.Ala320Val)
NM_014140.4(SMARCAL1):c.960C>G (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014140.4(SMARCAL1):c.963C>T (p.Gly321=) rs931969042
NM_014140.4(SMARCAL1):c.969A>G (p.Pro323=) rs1693693448
NM_014140.4(SMARCAL1):c.96G>A (p.Gln32=) rs778270870
NM_014140.4(SMARCAL1):c.970T>A (p.Ser324Thr)
NM_014140.4(SMARCAL1):c.978A>G (p.Pro326=) rs2106020668
NM_014140.4(SMARCAL1):c.986C>A (p.Ser329Ter) rs754516841
NM_014140.4(SMARCAL1):c.987A>G (p.Ser329=) rs765018454
NM_014140.4(SMARCAL1):c.989T>A (p.Phe330Tyr) rs2469621020
NM_014140.4(SMARCAL1):c.996del (p.Arg334fs) rs2106020684
NM_014140.4(SMARCAL1):c.9G>A (p.Leu3=) rs2106014250

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