ClinVar Miner

List of variants studied for Schimke immuno-osseous dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1131
Download table as spreadsheet
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

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