ClinVar Miner

List of variants reported as likely benign for Schimke immuno-osseous dysplasia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 591
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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 0.00122
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00047
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186 0.00039
NM_014140.4(SMARCAL1):c.1851+14C>G rs369856866 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565 0.00030
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014140.4(SMARCAL1):c.496C>T (p.Pro166Ser) rs772212169 0.00026
NM_014140.4(SMARCAL1):c.2427+9C>T rs201601053 0.00024
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00022
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.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.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.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.723C>T (p.Cys241=) rs748106387 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.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310 0.00004
NM_014140.4(SMARCAL1):c.1852-19G>A rs144613441 0.00004
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575 0.00004
NM_014140.4(SMARCAL1):c.2355C>T (p.Thr785=) rs560510661 0.00004
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) rs750345128 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.732C>T (p.Asn244=) rs201962302 0.00004
NM_014140.4(SMARCAL1):c.1189C>T (p.Leu397=) rs773676455 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.2031G>A (p.Leu677=) rs373085384 0.00003
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) rs767158204 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_014140.4(SMARCAL1):c.1278T>A (p.Ser426=) rs780207194 0.00002
NM_014140.4(SMARCAL1):c.1371T>C (p.Ala457=) rs752560860 0.00002
NM_014140.4(SMARCAL1):c.1521T>C (p.Asp507=) rs1482127849 0.00002
NM_014140.4(SMARCAL1):c.1572C>T (p.Ile524=) rs749951090 0.00002
NM_014140.4(SMARCAL1):c.2141+20C>T rs748240390 0.00002
NM_014140.4(SMARCAL1):c.2142-14A>G rs753258677 0.00002
NM_014140.4(SMARCAL1):c.2265C>T (p.Ile755=) rs962202326 0.00002
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387 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.1000C>A (p.Arg334=) rs758888999 0.00001
NM_014140.4(SMARCAL1):c.1029C>T (p.Phe343=) rs757734409 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+18C>G rs775174025 0.00001
NM_014140.4(SMARCAL1):c.1158G>A (p.Val386=) rs769875821 0.00001
NM_014140.4(SMARCAL1):c.1218T>A (p.Ala406=) rs979326079 0.00001
NM_014140.4(SMARCAL1):c.123C>T (p.Ser41=) rs757540052 0.00001
NM_014140.4(SMARCAL1):c.1314C>T (p.Pro438=) rs1444531408 0.00001
NM_014140.4(SMARCAL1):c.1341C>T (p.Ala447=) rs1332855037 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.1374C>T (p.Asp458=) rs200566186 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.1486-6C>T rs1390292771 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.1569G>A (p.Leu523=) rs1694060346 0.00001
NM_014140.4(SMARCAL1):c.1645-10T>C rs780292291 0.00001
NM_014140.4(SMARCAL1):c.1677T>G (p.Thr559=) rs772822180 0.00001
NM_014140.4(SMARCAL1):c.1755C>G (p.Ser585=) rs778978035 0.00001
NM_014140.4(SMARCAL1):c.1851+8T>C rs994058508 0.00001
NM_014140.4(SMARCAL1):c.1852-20C>T rs201188997 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.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.2217C>T (p.Asp739=) rs372977172 0.00001
NM_014140.4(SMARCAL1):c.2245-10G>T rs759266842 0.00001
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) rs775975242 0.00001
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=) rs918169495 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.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.2529-9C>T rs747803911 0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223 0.00001
NM_014140.4(SMARCAL1):c.2676A>G (p.Lys892=) rs778788144 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.296A>G (p.Lys99Arg) rs149567782 0.00001
NM_014140.4(SMARCAL1):c.321C>T (p.Ala107=) rs1308389695 0.00001
NM_014140.4(SMARCAL1):c.522A>G (p.Gln174=) rs1291696378 0.00001
NM_014140.4(SMARCAL1):c.564T>C (p.Ala188=) rs766719997 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.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.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.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014140.4(SMARCAL1):c.811+8C>T rs1337475649 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.939C>T (p.Ser313=) rs560174733 0.00001
NM_014140.4(SMARCAL1):c.1011C>T (p.Leu337=) rs1693694420
NM_014140.4(SMARCAL1):c.1017C>T (p.Ser339=)
NM_014140.4(SMARCAL1):c.1062T>C (p.Ile354=) rs2106020785
NM_014140.4(SMARCAL1):c.1065G>T (p.Ala355=)
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
NM_014140.4(SMARCAL1):c.1096+13T>C
NM_014140.4(SMARCAL1):c.1096+14del
NM_014140.4(SMARCAL1):c.1096+15T>C
NM_014140.4(SMARCAL1):c.1096+19T>C
NM_014140.4(SMARCAL1):c.1096+9T>C
NM_014140.4(SMARCAL1):c.1097-10G>T rs2106023841
NM_014140.4(SMARCAL1):c.1097-14T>C rs2106023838
NM_014140.4(SMARCAL1):c.1097-15T>G
NM_014140.4(SMARCAL1):c.1097-7A>G rs2106023849
NM_014140.4(SMARCAL1):c.1097-8C>T rs2106023846
NM_014140.4(SMARCAL1):c.1110G>A (p.Arg370=)
NM_014140.4(SMARCAL1):c.111C>T (p.Ser37=) rs2106014376
NM_014140.4(SMARCAL1):c.1125C>T (p.Leu375=)
NM_014140.4(SMARCAL1):c.1131A>G (p.Glu377=) rs2106023897
NM_014140.4(SMARCAL1):c.1147+14C>T
NM_014140.4(SMARCAL1):c.1147+16T>C
NM_014140.4(SMARCAL1):c.1147+17A>G
NM_014140.4(SMARCAL1):c.1147+19T>C
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
NM_014140.4(SMARCAL1):c.1148-12T>C rs2106029033
NM_014140.4(SMARCAL1):c.1148-14G>A
NM_014140.4(SMARCAL1):c.1148-16C>T
NM_014140.4(SMARCAL1):c.1148-17T>C
NM_014140.4(SMARCAL1):c.1148-20G>A
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.1159C>T (p.Arg387Cys)
NM_014140.4(SMARCAL1):c.1170A>G (p.Pro390=) rs368873394
NM_014140.4(SMARCAL1):c.1185C>T (p.Asp395=)
NM_014140.4(SMARCAL1):c.1197G>A (p.Thr399=)
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>G (p.Thr40=)
NM_014140.4(SMARCAL1):c.120C>T (p.Thr40=) rs747399047
NM_014140.4(SMARCAL1):c.1224G>A (p.Gln408=)
NM_014140.4(SMARCAL1):c.1233G>A (p.Lys411=)
NM_014140.4(SMARCAL1):c.1242C>G (p.Leu414=) rs1693894681
NM_014140.4(SMARCAL1):c.1245T>C (p.Ser415=)
NM_014140.4(SMARCAL1):c.1250C>T (p.Thr417Met)
NM_014140.4(SMARCAL1):c.1259T>C (p.Val420Ala)
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.129T>G (p.Ala43=) rs2106014409
NM_014140.4(SMARCAL1):c.1320G>A (p.Gln440=) rs560362356
NM_014140.4(SMARCAL1):c.1329A>C (p.Gly443=) rs761091116
NM_014140.4(SMARCAL1):c.1334+11G>A
NM_014140.4(SMARCAL1):c.1334+11_1334+13del
NM_014140.4(SMARCAL1):c.1334+12A>T
NM_014140.4(SMARCAL1):c.1334+15T>C
NM_014140.4(SMARCAL1):c.1335-10C>G
NM_014140.4(SMARCAL1):c.1335-15C>T
NM_014140.4(SMARCAL1):c.1335-6C>T rs1348472847
NM_014140.4(SMARCAL1):c.1335-7C>T
NM_014140.4(SMARCAL1):c.1344A>C (p.Ile448=)
NM_014140.4(SMARCAL1):c.1353A>C (p.Gly451=)
NM_014140.4(SMARCAL1):c.1353A>G (p.Gly451=)
NM_014140.4(SMARCAL1):c.1356C>A (p.Gly452=)
NM_014140.4(SMARCAL1):c.1363C>T (p.Leu455=)
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.1419C>T (p.Ala473=)
NM_014140.4(SMARCAL1):c.1440G>C (p.Pro480=)
NM_014140.4(SMARCAL1):c.1446G>A (p.Leu482=)
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=)
NM_014140.4(SMARCAL1):c.147C>G (p.Ala49=) rs2106014428
NM_014140.4(SMARCAL1):c.1482G>A (p.Glu494=)
NM_014140.4(SMARCAL1):c.1485+18T>G
NM_014140.4(SMARCAL1):c.1485+19G>T
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.1486-10T>C
NM_014140.4(SMARCAL1):c.1486-11G>C
NM_014140.4(SMARCAL1):c.1486-14C>A
NM_014140.4(SMARCAL1):c.1486-17C>T
NM_014140.4(SMARCAL1):c.1486-20T>G
NM_014140.4(SMARCAL1):c.1486-4A>G rs2106036956
NM_014140.4(SMARCAL1):c.1486-5C>A
NM_014140.4(SMARCAL1):c.1486-7T>C
NM_014140.4(SMARCAL1):c.1486-8A>T
NM_014140.4(SMARCAL1):c.1503G>A (p.Leu501=)
NM_014140.4(SMARCAL1):c.1503G>C (p.Leu501=)
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=)
NM_014140.4(SMARCAL1):c.1536G>A (p.Val512=)
NM_014140.4(SMARCAL1):c.1536G>C (p.Val512=)
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=)
NM_014140.4(SMARCAL1):c.1567C>T (p.Leu523=)
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=)
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=)
NM_014140.4(SMARCAL1):c.1638C>T (p.Val546=)
NM_014140.4(SMARCAL1):c.1641C>T (p.Ile547=)
NM_014140.4(SMARCAL1):c.1644+12G>A
NM_014140.4(SMARCAL1):c.1644+14C>G
NM_014140.4(SMARCAL1):c.1644+16A>G
NM_014140.4(SMARCAL1):c.1644+17A>G
NM_014140.4(SMARCAL1):c.1644+9C>T rs1694062088
NM_014140.4(SMARCAL1):c.1645-11C>T rs770050737
NM_014140.4(SMARCAL1):c.1645-15G>A
NM_014140.4(SMARCAL1):c.1645-19T>A
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=)
NM_014140.4(SMARCAL1):c.1662C>G (p.Leu554=)
NM_014140.4(SMARCAL1):c.1677T>A (p.Thr559=) rs772822180
NM_014140.4(SMARCAL1):c.1683C>T (p.Arg561=)
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) rs763289234
NM_014140.4(SMARCAL1):c.1701G>C (p.Pro567=)
NM_014140.4(SMARCAL1):c.1704C>T (p.Val568=)
NM_014140.4(SMARCAL1):c.1707A>G (p.Leu569=)
NM_014140.4(SMARCAL1):c.1710+12T>A
NM_014140.4(SMARCAL1):c.1710+16A>T
NM_014140.4(SMARCAL1):c.1710+18C>T
NM_014140.4(SMARCAL1):c.1710+19T>C
NM_014140.4(SMARCAL1):c.1710+20G>A
NM_014140.4(SMARCAL1):c.1711-11T>C
NM_014140.4(SMARCAL1):c.1711-20T>C
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=)
NM_014140.4(SMARCAL1):c.1722G>A (p.Arg574=) rs768077452
NM_014140.4(SMARCAL1):c.1729C>T (p.Leu577=)
NM_014140.4(SMARCAL1):c.1737G>A (p.Ser579=)
NM_014140.4(SMARCAL1):c.1737G>C (p.Ser579=)
NM_014140.4(SMARCAL1):c.1743A>C (p.Thr581=)
NM_014140.4(SMARCAL1):c.1746A>G (p.Pro582=)
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=)
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=)
NM_014140.4(SMARCAL1):c.1806C>T (p.Phe602=)
NM_014140.4(SMARCAL1):c.1827A>G (p.Gly609=)
NM_014140.4(SMARCAL1):c.1833C>T (p.Arg611=)
NM_014140.4(SMARCAL1):c.183T>C (p.Ser61=) rs1693552763
NM_014140.4(SMARCAL1):c.1842T>C (p.Asp614=)
NM_014140.4(SMARCAL1):c.1851+10A>T
NM_014140.4(SMARCAL1):c.1851+12C>T
NM_014140.4(SMARCAL1):c.1851+17C>G
NM_014140.4(SMARCAL1):c.1851+17C>T rs369924086
NM_014140.4(SMARCAL1):c.1852-19G>T
NM_014140.4(SMARCAL1):c.1852-7T>C
NM_014140.4(SMARCAL1):c.1852-7T>G
NM_014140.4(SMARCAL1):c.1857T>A (p.Pro619=) rs747604209
NM_014140.4(SMARCAL1):c.1872C>T (p.Tyr624=)
NM_014140.4(SMARCAL1):c.1875A>G (p.Ser625=)
NM_014140.4(SMARCAL1):c.1884C>T (p.Ser628=) rs2106055126
NM_014140.4(SMARCAL1):c.1890G>A (p.Leu630=)
NM_014140.4(SMARCAL1):c.1905C>T (p.Leu635=) rs763105313
NM_014140.4(SMARCAL1):c.1906C>T (p.Leu636=) rs1694435947
NM_014140.4(SMARCAL1):c.1932G>A (p.Arg644=)
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=)
NM_014140.4(SMARCAL1):c.1998A>C (p.Pro666=) rs2106055354
NM_014140.4(SMARCAL1):c.1998A>G (p.Pro666=)
NM_014140.4(SMARCAL1):c.2002C>A (p.Arg668=)
NM_014140.4(SMARCAL1):c.2004G>A (p.Arg668=)
NM_014140.4(SMARCAL1):c.2007C>A (p.Ile669=)
NM_014140.4(SMARCAL1):c.201T>C (p.His67=) rs920918007
NM_014140.4(SMARCAL1):c.2025T>C (p.Ala675=)
NM_014140.4(SMARCAL1):c.2028C>T (p.Ala676=) rs751044842
NM_014140.4(SMARCAL1):c.204T>C (p.Gly68=)
NM_014140.4(SMARCAL1):c.2055C>T (p.Thr685=) rs2106055478
NM_014140.4(SMARCAL1):c.2070+11G>A
NM_014140.4(SMARCAL1):c.2070+15G>A
NM_014140.4(SMARCAL1):c.2070+8C>T
NM_014140.4(SMARCAL1):c.2070+9A>G
NM_014140.4(SMARCAL1):c.2070+9A>T rs2106055533
NM_014140.4(SMARCAL1):c.2071-11T>C
NM_014140.4(SMARCAL1):c.2071-12A>G
NM_014140.4(SMARCAL1):c.2071-16_2071-12del
NM_014140.4(SMARCAL1):c.2071-18dup
NM_014140.4(SMARCAL1):c.2071-5A>G
NM_014140.4(SMARCAL1):c.2071-6C>A
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=)
NM_014140.4(SMARCAL1):c.2141+10C>T rs1574477107
NM_014140.4(SMARCAL1):c.2141+11A>C
NM_014140.4(SMARCAL1):c.2141+17T>A
NM_014140.4(SMARCAL1):c.2141+18G>A
NM_014140.4(SMARCAL1):c.2141+18G>C
NM_014140.4(SMARCAL1):c.2141+7G>T rs1559135620
NM_014140.4(SMARCAL1):c.2141+8G>T
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=)
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.2175A>G (p.Arg725=) rs2106077186
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=)
NM_014140.4(SMARCAL1):c.2226G>T (p.Thr742=) rs2271335
NM_014140.4(SMARCAL1):c.222G>A (p.Gln74=)
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+8C>G rs1694868930
NM_014140.4(SMARCAL1):c.2245-11T>C
NM_014140.4(SMARCAL1):c.2245-12T>C rs776211686
NM_014140.4(SMARCAL1):c.2245-13C>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
NM_014140.4(SMARCAL1):c.2245-6del
NM_014140.4(SMARCAL1):c.2256C>T (p.His752=)
NM_014140.4(SMARCAL1):c.2265C>A (p.Ile755=)
NM_014140.4(SMARCAL1):c.2271C>T (p.Gly757=)
NM_014140.4(SMARCAL1):c.2277C>T (p.Thr759=) rs2106086332
NM_014140.4(SMARCAL1):c.228C>A (p.Leu76=)
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154
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=)
NM_014140.4(SMARCAL1):c.2337G>A (p.Val779=)
NM_014140.4(SMARCAL1):c.2340C>A (p.Ala780=)
NM_014140.4(SMARCAL1):c.2340C>G (p.Ala780=)
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=)
NM_014140.4(SMARCAL1):c.2355C>A (p.Thr785=)
NM_014140.4(SMARCAL1):c.2376C>G (p.Thr792=)
NM_014140.4(SMARCAL1):c.237A>G (p.Ser79=)
NM_014140.4(SMARCAL1):c.2388T>C (p.Ala796=) rs2106086500
NM_014140.4(SMARCAL1):c.2391C>T (p.Asp797=)
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=)
NM_014140.4(SMARCAL1):c.2415T>C (p.Phe805=)
NM_014140.4(SMARCAL1):c.2421C>T (p.Asn807=)
NM_014140.4(SMARCAL1):c.2427+10G>T rs372600731
NM_014140.4(SMARCAL1):c.2427+11C>A
NM_014140.4(SMARCAL1):c.2427+7G>C rs2106086579
NM_014140.4(SMARCAL1):c.2428-12C>G
NM_014140.4(SMARCAL1):c.2428-12C>T
NM_014140.4(SMARCAL1):c.2428-13C>T
NM_014140.4(SMARCAL1):c.2428-17A>G rs2106088478
NM_014140.4(SMARCAL1):c.2428-7C>T
NM_014140.4(SMARCAL1):c.2428-8A>G rs2106088505
NM_014140.4(SMARCAL1):c.2436C>A (p.Ile812=)
NM_014140.4(SMARCAL1):c.2436C>T (p.Ile812=)
NM_014140.4(SMARCAL1):c.2460C>T (p.Arg820=)
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.2520C>T (p.Asp840=)
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
NM_014140.4(SMARCAL1):c.2529-12T>G
NM_014140.4(SMARCAL1):c.2529-16C>T
NM_014140.4(SMARCAL1):c.2529-4A>C
NM_014140.4(SMARCAL1):c.2529-4A>T
NM_014140.4(SMARCAL1):c.2529-5A>G rs2106089814
NM_014140.4(SMARCAL1):c.2529-7C>G
NM_014140.4(SMARCAL1):c.2529-9C>G
NM_014140.4(SMARCAL1):c.2535G>A (p.Leu845=)
NM_014140.4(SMARCAL1):c.2535G>C (p.Leu845=)
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) rs1574485907
NM_014140.4(SMARCAL1):c.2571G>C (p.Gly857=)
NM_014140.4(SMARCAL1):c.2589T>C (p.Phe863=)
NM_014140.4(SMARCAL1):c.2592A>C (p.Ser864=)
NM_014140.4(SMARCAL1):c.2610T>C (p.Thr870=)
NM_014140.4(SMARCAL1):c.2619C>G (p.Leu873=) rs1346035671
NM_014140.4(SMARCAL1):c.2622C>T (p.Tyr874=) rs2106089952
NM_014140.4(SMARCAL1):c.2625+10G>A
NM_014140.4(SMARCAL1):c.2625+15T>A
NM_014140.4(SMARCAL1):c.2625+7C>T
NM_014140.4(SMARCAL1):c.2625+8C>G
NM_014140.4(SMARCAL1):c.2625+9A>G
NM_014140.4(SMARCAL1):c.2626-11C>G
NM_014140.4(SMARCAL1):c.2626-11C>T
NM_014140.4(SMARCAL1):c.2626-15C>A
NM_014140.4(SMARCAL1):c.2626-19T>C
NM_014140.4(SMARCAL1):c.2626-4G>A rs1468010888
NM_014140.4(SMARCAL1):c.2652C>T (p.Asp884=)
NM_014140.4(SMARCAL1):c.2655A>G (p.Leu885=)
NM_014140.4(SMARCAL1):c.2658C>T (p.Phe886=) rs2106094806
NM_014140.4(SMARCAL1):c.2664G>A (p.Lys888=)
NM_014140.4(SMARCAL1):c.2667C>T (p.Ser889=) rs2106094842
NM_014140.4(SMARCAL1):c.2670T>C (p.Phe890=)
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=)
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=)
NM_014140.4(SMARCAL1):c.2724A>G (p.Pro908=)
NM_014140.4(SMARCAL1):c.273T>C (p.Ser91=)
NM_014140.4(SMARCAL1):c.2742A>G (p.Thr914=)
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) rs886044051
NM_014140.4(SMARCAL1):c.2775C>G (p.Thr925=)
NM_014140.4(SMARCAL1):c.2775C>T (p.Thr925=)
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=)
NM_014140.4(SMARCAL1):c.2829T>C (p.Phe943=)
NM_014140.4(SMARCAL1):c.2838C>T (p.Asn946=) rs2106095078
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=) rs200632025
NM_014140.4(SMARCAL1):c.2856T>C (p.Ser952=)
NM_014140.4(SMARCAL1):c.2862G>A (p.Leu954=)
NM_014140.4(SMARCAL1):c.300G>A (p.Lys100=) rs1206614091
NM_014140.4(SMARCAL1):c.330C>A (p.Gly110=) rs1261083376
NM_014140.4(SMARCAL1):c.333C>T (p.His111=) rs2106014658
NM_014140.4(SMARCAL1):c.33A>G (p.Lys11=)
NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys)
NM_014140.4(SMARCAL1):c.342T>C (p.Arg114=)
NM_014140.4(SMARCAL1):c.348A>G (p.Gln116=)
NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly)
NM_014140.4(SMARCAL1):c.366C>A (p.Ile122=)
NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=) rs947471355
NM_014140.4(SMARCAL1):c.396G>A (p.Glu132=)
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.429A>G (p.Leu143=)
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=)
NM_014140.4(SMARCAL1):c.474C>G (p.Pro158=)
NM_014140.4(SMARCAL1):c.474C>T (p.Pro158=)
NM_014140.4(SMARCAL1):c.486A>G (p.Pro162=)
NM_014140.4(SMARCAL1):c.492T>C (p.His164=)
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=)
NM_014140.4(SMARCAL1):c.510A>G (p.Pro170=) rs1693561841
NM_014140.4(SMARCAL1):c.519C>G (p.Ser173=)
NM_014140.4(SMARCAL1):c.546A>G (p.Gly182=) rs151122737
NM_014140.4(SMARCAL1):c.561T>C (p.Asp187=)
NM_014140.4(SMARCAL1):c.567G>A (p.Lys189=)
NM_014140.4(SMARCAL1):c.57G>A (p.Lys19=)
NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=)
NM_014140.4(SMARCAL1):c.591C>G (p.Ala197=)
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.624T>C (p.His208=) rs376048935
NM_014140.4(SMARCAL1):c.630C>T (p.Ser210=) rs2106015091
NM_014140.4(SMARCAL1):c.645G>C (p.Thr215=)
NM_014140.4(SMARCAL1):c.660A>C (p.Gly220=)
NM_014140.4(SMARCAL1):c.669G>A (p.Gln223=) rs1350600578
NM_014140.4(SMARCAL1):c.678A>G (p.Ser226=)
NM_014140.4(SMARCAL1):c.687A>C (p.Ser229=) rs922754263
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=)
NM_014140.4(SMARCAL1):c.711G>A (p.Gln237=)
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=)
NM_014140.4(SMARCAL1):c.759G>A (p.Gly253=)
NM_014140.4(SMARCAL1):c.762C>T (p.Tyr254=) rs763529206
NM_014140.4(SMARCAL1):c.768G>A (p.Ala256=)
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=)
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+9T>C
NM_014140.4(SMARCAL1):c.812-12G>C
NM_014140.4(SMARCAL1):c.812-13dup
NM_014140.4(SMARCAL1):c.812-14_812-13del
NM_014140.4(SMARCAL1):c.812-19G>A
NM_014140.4(SMARCAL1):c.812-4T>C
NM_014140.4(SMARCAL1):c.812-8T>C rs2106016234
NM_014140.4(SMARCAL1):c.828G>A (p.Thr276=) rs368683635
NM_014140.4(SMARCAL1):c.837C>T (p.Phe279=)
NM_014140.4(SMARCAL1):c.840C>T (p.Ser280=)
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
NM_014140.4(SMARCAL1):c.862+12C>T
NM_014140.4(SMARCAL1):c.862+16G>A
NM_014140.4(SMARCAL1):c.862+19G>A
NM_014140.4(SMARCAL1):c.862+9A>C
NM_014140.4(SMARCAL1):c.863-15C>A
NM_014140.4(SMARCAL1):c.863-17TTC[2] rs762653086
NM_014140.4(SMARCAL1):c.863-19G>A rs759688511
NM_014140.4(SMARCAL1):c.863-20C>T
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=)
NM_014140.4(SMARCAL1):c.876G>A (p.Gln292=)
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=)
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.891C>T (p.Val297=)
NM_014140.4(SMARCAL1):c.894C>T (p.Asn298=)
NM_014140.4(SMARCAL1):c.895C>T (p.Leu299=) rs2106020536
NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=)
NM_014140.4(SMARCAL1):c.926G>A (p.Ser309Asn)
NM_014140.4(SMARCAL1):c.936C>G (p.Pro312=)
NM_014140.4(SMARCAL1):c.939C>A (p.Ser313=)
NM_014140.4(SMARCAL1):c.942C>T (p.Thr314=)
NM_014140.4(SMARCAL1):c.948T>C (p.Ser316=)
NM_014140.4(SMARCAL1):c.954A>G (p.Gly318=)
NM_014140.4(SMARCAL1):c.960C>G (p.Ala320=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014140.4(SMARCAL1):c.963C>T (p.Gly321=)
NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)
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>C (p.Ser329=)
NM_014140.4(SMARCAL1):c.987A>G (p.Ser329=)
NM_014140.4(SMARCAL1):c.99T>C (p.His33=)
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.