ClinVar Miner

List of variants in gene SMARCAL1 reported as likely benign for Schimke immuno-osseous dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 631
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.-137A>G rs115172989 0.01997
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.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.863-9C>G rs188833040 0.00063
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.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.270C>T (p.His90=) rs150591090 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00027
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.1001G>A (p.Arg334Gln) rs138575228 0.00019
NM_014140.4(SMARCAL1):c.2071-12A>G rs1462058051 0.00015
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
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.1533C>T (p.Val511=) rs142314193 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.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.1732T>C (p.Leu578=) rs370667576 0.00008
NM_014140.4(SMARCAL1):c.1259T>C (p.Val420Ala) rs185854595 0.00007
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758 0.00007
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) rs773940970 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.927C>T (p.Ser309=) rs139949668 0.00006
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310 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.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.1852-19G>A rs144613441 0.00004
NM_014140.4(SMARCAL1):c.2355C>T (p.Thr785=) rs560510661 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.1110G>A (p.Arg370=) rs779169942 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 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.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.811+9T>C rs1216438158 0.00003
NM_014140.4(SMARCAL1):c.837C>T (p.Phe279=) rs762425520 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 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.1729C>T (p.Leu577=) rs1341949416 0.00002
NM_014140.4(SMARCAL1):c.1852-20C>T rs201188997 0.00002
NM_014140.4(SMARCAL1):c.2265C>T (p.Ile755=) rs962202326 0.00002
NM_014140.4(SMARCAL1):c.2583C>T (p.Thr861=) rs766357613 0.00002
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368 0.00002
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 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.1000C>A (p.Arg334=) rs758888999 0.00001
NM_014140.4(SMARCAL1):c.1029C>T (p.Phe343=) rs757734409 0.00001
NM_014140.4(SMARCAL1):c.1097-15T>G rs377533846 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.1197G>A (p.Thr399=) rs767036014 0.00001
NM_014140.4(SMARCAL1):c.120C>G (p.Thr40=) rs747399047 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.1334+11G>A rs760096345 0.00001
NM_014140.4(SMARCAL1):c.1334+15T>A rs1422007189 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.1371T>C (p.Ala457=) rs752560860 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.1467G>A (p.Val489=) rs145525014 0.00001
NM_014140.4(SMARCAL1):c.1485+10C>T rs886042157 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.1506A>G (p.Pro502=) rs779619746 0.00001
NM_014140.4(SMARCAL1):c.1530C>T (p.Asn510=) rs773199821 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.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.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.1755C>G (p.Ser585=) rs778978035 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+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.1863G>A (p.Gly621=) rs777370537 0.00001
NM_014140.4(SMARCAL1):c.186T>C (p.Cys62=) rs1293788555 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.1941G>A (p.Lys647=) rs369105193 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 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.2142-14A>G rs753258677 0.00001
NM_014140.4(SMARCAL1):c.2175A>G (p.Arg725=) rs2106077186 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.2265C>A (p.Ile755=) rs962202326 0.00001
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=) rs918169495 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.2364T>C (p.Asn788=) rs2066517 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.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.2520C>T (p.Asp840=) rs1325007410 0.00001
NM_014140.4(SMARCAL1):c.2529-16C>T rs1356821327 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.2556T>C (p.Val852=) rs1574485907 0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223 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.2626-4G>A rs1468010888 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.2742A>G (p.Thr914=) rs560540864 0.00001
NM_014140.4(SMARCAL1):c.2754T>C (p.Ser918=) rs1033156954 0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) rs755396021 0.00001
NM_014140.4(SMARCAL1):c.2844C>T (p.Asp948=) rs971767180 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.321C>T (p.Ala107=) rs1308389695 0.00001
NM_014140.4(SMARCAL1):c.330C>A (p.Gly110=) rs1261083376 0.00001
NM_014140.4(SMARCAL1):c.522A>G (p.Gln174=) rs1291696378 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.609C>T (p.Asn203=) rs749052447 0.00001
NM_014140.4(SMARCAL1):c.60T>C (p.Ala20=) rs1185743249 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.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.690C>T (p.Val230=) rs757584821 0.00001
NM_014140.4(SMARCAL1):c.720G>A (p.Lys240=) rs778786012 0.00001
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) rs146658939 0.00001
NM_014140.4(SMARCAL1):c.768G>A (p.Ala256=) rs1436190761 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 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.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.891C>T (p.Val297=) rs1355363936 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.99T>C (p.His33=) rs2469610670 0.00001
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.1062T>C (p.Ile354=) rs2106020785
NM_014140.4(SMARCAL1):c.1065G>T (p.Ala355=) rs374876609
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.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.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+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.1170A>G (p.Pro390=) rs368873394
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.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.1272C>T (p.Asp424=)
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.1314C>T (p.Pro438=) rs1444531408
NM_014140.4(SMARCAL1):c.1329A>C (p.Gly443=) rs761091116
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.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.1353A>C (p.Gly451=) rs751622752
NM_014140.4(SMARCAL1):c.1356C>A (p.Gly452=) rs2468996673
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.1384C>T (p.Leu462=) rs2106033574
NM_014140.4(SMARCAL1):c.1404C>T (p.Ala468=)
NM_014140.4(SMARCAL1):c.1419C>T (p.Ala473=) rs1216850725
NM_014140.4(SMARCAL1):c.1440G>C (p.Pro480=) rs367557310
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.147C>G (p.Ala49=) rs2106014428
NM_014140.4(SMARCAL1):c.1482G>A (p.Glu494=) rs2468996943
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.1503G>A (p.Leu501=) rs1694058602
NM_014140.4(SMARCAL1):c.1503G>C (p.Leu501=) rs1694058602
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.1524C>T (p.Cys508=) rs2469000421
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.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.1608A>G (p.Glu536=) rs2106037138
NM_014140.4(SMARCAL1):c.1614G>A (p.Gln538=) rs1320735965
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.1638C>T (p.Val546=) rs2469000614
NM_014140.4(SMARCAL1):c.1641C>A (p.Ile547=)
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+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.1653T>C (p.Ser551=) rs747958443
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.1677T>A (p.Thr559=) rs772822180
NM_014140.4(SMARCAL1):c.1683C>T (p.Arg561=) rs2469003558
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.1711-20T>C rs1306973493
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.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.1758G>C (p.Arg586=) rs1156923963
NM_014140.4(SMARCAL1):c.1761C>G (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1767G>A (p.Glu589=) rs2106050314
NM_014140.4(SMARCAL1):c.1770C>G (p.Leu590=) rs2106050320
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.1800T>C (p.Thr600=) rs2469012597
NM_014140.4(SMARCAL1):c.1806C>T (p.Phe602=) rs2469012600
NM_014140.4(SMARCAL1):c.1827A>G (p.Gly609=) rs2469012624
NM_014140.4(SMARCAL1):c.1833C>T (p.Arg611=) rs2469012632
NM_014140.4(SMARCAL1):c.183T>C (p.Ser61=) rs1693552763
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.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.1857T>A (p.Pro619=) rs747604209
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.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.1932G>A (p.Arg644=) rs1694436571
NM_014140.4(SMARCAL1):c.195G>A (p.Val65=) rs2106014502
NM_014140.4(SMARCAL1):c.1971G>A (p.Lys657=) rs1191080990
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.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.201T>C (p.His67=) rs920918007
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.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.2070+15G>A rs2469017268
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.2094C>T (p.Leu698=) rs2106073054
NM_014140.4(SMARCAL1):c.2097T>C (p.Ile699=) rs2106073060
NM_014140.4(SMARCAL1):c.2106C>T (p.Phe702=) rs2106073081
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+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.2148T>C (p.Tyr716=) rs2106077140
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.2208G>C (p.Val736=) rs1694867285
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.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+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.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.2325G>A (p.Glu775=) rs1486727236
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.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.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.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.2421C>T (p.Asn807=) rs2106086558
NM_014140.4(SMARCAL1):c.2427+10G>T rs372600731
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.2460C>T (p.Arg820=) rs2469050213
NM_014140.4(SMARCAL1):c.2472C>G (p.Thr824=) rs1338342544
NM_014140.4(SMARCAL1):c.2481G>A (p.Val827=) rs2106088586
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.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.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.2571G>C (p.Gly857=) rs2469051958
NM_014140.4(SMARCAL1):c.2589T>C (p.Phe863=) rs759400963
NM_014140.4(SMARCAL1):c.2592A>C (p.Ser864=) rs2469051981
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.2622C>T (p.Tyr874=) rs2106089952
NM_014140.4(SMARCAL1):c.2625+15T>A rs751937471
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.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.2697C>T (p.Leu899=) rs2469057547
NM_014140.4(SMARCAL1):c.2700G>C (p.Leu900=) rs2106094916
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.273T>C (p.Ser91=) rs1270372276
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) rs886044051
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.279G>A (p.Gln93=) rs2106014599
NM_014140.4(SMARCAL1):c.2802T>C (p.Ser934=) rs748203422
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.2838C>T (p.Asn946=) rs2106095078
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.315C>T (p.Pro105=)
NM_014140.4(SMARCAL1):c.333C>T (p.His111=) rs2106014658
NM_014140.4(SMARCAL1):c.33A>G (p.Lys11=) rs2469610544
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.366C>A (p.Ile122=) rs1373525644
NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=) rs2106014724
NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=) rs947471355
NM_014140.4(SMARCAL1):c.396G>A (p.Glu132=) rs1693558317
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.429A>G (p.Leu143=) rs2469611291
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.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.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.499C>T (p.Leu167=) rs2106014899
NM_014140.4(SMARCAL1):c.504C>T (p.Ala168=) rs1693561599
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.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.585A>C (p.Ala195=) rs2469611627
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.597T>C (p.Pro199=) rs758479373
NM_014140.4(SMARCAL1):c.603G>A (p.Gly201=) rs35048226
NM_014140.4(SMARCAL1):c.630C>T (p.Ser210=) rs2106015091
NM_014140.4(SMARCAL1):c.645G>C (p.Thr215=) rs1165335408
NM_014140.4(SMARCAL1):c.660A>C (p.Gly220=) rs2469611863
NM_014140.4(SMARCAL1):c.669G>A (p.Gln223=) rs1350600578
NM_014140.4(SMARCAL1):c.687A>C (p.Ser229=) rs922754263
NM_014140.4(SMARCAL1):c.687A>T (p.Ser229=)
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.708T>G (p.Ser236=) rs2469612000
NM_014140.4(SMARCAL1):c.711G>A (p.Gln237=) rs2469612011
NM_014140.4(SMARCAL1):c.717A>G (p.Gly239=) rs1574443774
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.744C>T (p.Phe248=) rs1325941966
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.762C>T (p.Tyr254=) rs763529206
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.792C>A (p.Thr264=) rs2106015360
NM_014140.4(SMARCAL1):c.798C>A (p.Pro266=) rs746568102
NM_014140.4(SMARCAL1):c.807T>C (p.Asn269=) rs1574443924
NM_014140.4(SMARCAL1):c.811+10T>C rs2106015428
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.812-4T>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.840C>T (p.Ser280=) rs1319279010
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+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.894C>T (p.Asn298=) rs2469620743
NM_014140.4(SMARCAL1):c.895C>T (p.Leu299=) rs2106020536
NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=) rs2469610643
NM_014140.4(SMARCAL1):c.933A>G (p.Ser311=)
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.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.978A>G (p.Pro326=) rs2106020668
NM_014140.4(SMARCAL1):c.987A>G (p.Ser329=) rs765018454
NM_014140.4(SMARCAL1):c.9G>A (p.Leu3=) rs2106014250

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