ClinVar Miner

List of variants in gene SMARCE1 studied for familial multiple meningioma

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 785
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.369+12G>T rs58739414 0.00232
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=) rs148666451 0.00066
NM_003079.5(SMARCE1):c.1028-18A>G rs202149619 0.00048
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=) rs149613910 0.00041
NM_003079.5(SMARCE1):c.157-4G>A rs141832779 0.00032
NM_003079.5(SMARCE1):c.300T>A (p.Ile100=) rs143363725 0.00024
NM_003079.5(SMARCE1):c.1122C>T (p.Val374=) rs144057094 0.00016
NM_003079.5(SMARCE1):c.894A>G (p.Lys298=) rs759780963 0.00016
NM_003079.5(SMARCE1):c.933T>C (p.Ala311=) rs141470385 0.00016
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_003079.5(SMARCE1):c.369+10G>C rs199790447 0.00012
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=) rs201484943 0.00012
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_003079.5(SMARCE1):c.999A>G (p.Lys333=) rs372423633 0.00008
NM_003079.5(SMARCE1):c.135G>A (p.Pro45=) rs148373393 0.00007
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His) rs201577008 0.00007
NM_003079.5(SMARCE1):c.1017G>A (p.Pro339=) rs372446330 0.00006
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser) rs151220618 0.00006
NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val) rs771281023 0.00006
NM_003079.5(SMARCE1):c.1209C>T (p.Pro403=) rs761485678 0.00006
NM_003079.5(SMARCE1):c.921C>T (p.Ala307=) rs888776519 0.00006
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp) rs773859296 0.00005
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=) rs755995632 0.00005
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=) rs376628666 0.00005
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=) rs753203502 0.00005
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys) rs377136485 0.00004
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003079.5(SMARCE1):c.1173C>T (p.Ser391=) rs377096761 0.00004
NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg) rs770346178 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile) rs142279746 0.00004
NM_003079.5(SMARCE1):c.642C>T (p.Asp214=) rs186493032 0.00004
NM_003079.5(SMARCE1):c.715-6T>G rs560583293 0.00004
NM_003079.5(SMARCE1):c.817-18C>G rs774207941 0.00004
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser) rs745448272 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu) rs750483952 0.00003
NM_003079.5(SMARCE1):c.1019T>C (p.Met340Thr) rs746602244 0.00003
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=) rs773059312 0.00003
NM_003079.5(SMARCE1):c.207G>A (p.Pro69=) rs373563447 0.00003
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=) rs746320191 0.00003
NM_003079.5(SMARCE1):c.531A>G (p.Glu177=) rs377424178 0.00003
NM_003079.5(SMARCE1):c.542-11G>A rs777566198 0.00003
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=) rs374977780 0.00003
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg) rs1307270981 0.00003
NM_003079.5(SMARCE1):c.1002C>T (p.Asp334=) rs750483952 0.00002
NM_003079.5(SMARCE1):c.1005C>T (p.Asp335=) rs1394131991 0.00002
NM_003079.5(SMARCE1):c.1010A>G (p.Asn337Ser) rs765235194 0.00002
NM_003079.5(SMARCE1):c.1110G>A (p.Gly370=) rs146475742 0.00002
NM_003079.5(SMARCE1):c.370-16A>C rs773985049 0.00002
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His) rs755039445 0.00002
NM_003079.5(SMARCE1):c.490A>G (p.Met164Val) rs752296357 0.00002
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.507G>A (p.Pro169=) rs768018632 0.00002
NM_003079.5(SMARCE1):c.52-15A>G rs534661500 0.00002
NM_003079.5(SMARCE1):c.573A>C (p.Thr191=) rs1060504227 0.00002
NM_003079.5(SMARCE1):c.643G>A (p.Val215Ile) rs376327613 0.00002
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=) rs769584665 0.00002
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly) rs201158885 0.00002
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys) rs925142025 0.00002
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys) rs755389218 0.00002
NM_003079.5(SMARCE1):c.1003G>A (p.Asp335Asn) rs767569116 0.00001
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala) rs1025768618 0.00001
NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu) rs1060501398 0.00001
NM_003079.5(SMARCE1):c.1027+15A>G rs373998018 0.00001
NM_003079.5(SMARCE1):c.1027+16C>A rs779439710 0.00001
NM_003079.5(SMARCE1):c.1027+20C>T rs755475324 0.00001
NM_003079.5(SMARCE1):c.1027+5C>G rs771556643 0.00001
NM_003079.5(SMARCE1):c.1028-7del rs750699769 0.00001
NM_003079.5(SMARCE1):c.102C>T (p.Leu34=) rs1567848949 0.00001
NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val) rs267604854 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly) rs1198138077 0.00001
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) rs766200637 0.00001
NM_003079.5(SMARCE1):c.1083G>A (p.Thr361=) rs760555858 0.00001
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser) rs1205865722 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 0.00001
NM_003079.5(SMARCE1):c.1125C>T (p.Asp375=) rs1178049897 0.00001
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val) rs781353760 0.00001
NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile) rs1314554797 0.00001
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn) rs1555605079 0.00001
NM_003079.5(SMARCE1):c.1152T>C (p.Asp384=) rs747192638 0.00001
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro) rs1270010378 0.00001
NM_003079.5(SMARCE1):c.1165T>C (p.Ser389Pro) rs758595837 0.00001
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu) rs376181802 0.00001
NM_003079.5(SMARCE1):c.1185A>G (p.Thr395=) rs2037060598 0.00001
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val) rs751165188 0.00001
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala) rs767835921 0.00001
NM_003079.5(SMARCE1):c.156+20C>T rs759489225 0.00001
NM_003079.5(SMARCE1):c.157-5C>T rs776664220 0.00001
NM_003079.5(SMARCE1):c.157-6T>C rs759579237 0.00001
NM_003079.5(SMARCE1):c.173C>T (p.Thr58Met) rs1353575590 0.00001
NM_003079.5(SMARCE1):c.174G>A (p.Thr58=) rs201976136 0.00001
NM_003079.5(SMARCE1):c.232A>C (p.Arg78=) rs1201043924 0.00001
NM_003079.5(SMARCE1):c.237+14A>T rs2037158156 0.00001
NM_003079.5(SMARCE1):c.238-12T>C rs529233633 0.00001
NM_003079.5(SMARCE1):c.238-15T>A rs766494520 0.00001
NM_003079.5(SMARCE1):c.238-6T>C rs1194551641 0.00001
NM_003079.5(SMARCE1):c.238-7T>C rs1461647458 0.00001
NM_003079.5(SMARCE1):c.264C>T (p.Asn88=) rs761400708 0.00001
NM_003079.5(SMARCE1):c.267T>C (p.Pro89=) rs1460253575 0.00001
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu) rs1415603265 0.00001
NM_003079.5(SMARCE1):c.357C>T (p.Tyr119=) rs770298495 0.00001
NM_003079.5(SMARCE1):c.369+18A>G rs778183973 0.00001
NM_003079.5(SMARCE1):c.370-8A>C rs368298445 0.00001
NM_003079.5(SMARCE1):c.381T>C (p.Asn127=) rs574039127 0.00001
NM_003079.5(SMARCE1):c.386C>A (p.Ser129Tyr) rs769255223 0.00001
NM_003079.5(SMARCE1):c.405T>C (p.Asn135=) rs888304315 0.00001
NM_003079.5(SMARCE1):c.411C>T (p.Pro137=) rs777241499 0.00001
NM_003079.5(SMARCE1):c.440G>A (p.Ser147Asn) rs779169160 0.00001
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val) rs781231331 0.00001
NM_003079.5(SMARCE1):c.473G>A (p.Arg158Gln) rs757138170 0.00001
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys) rs190432371 0.00001
NM_003079.5(SMARCE1):c.488G>A (p.Arg163His) rs762623799 0.00001
NM_003079.5(SMARCE1):c.510C>T (p.Tyr170=) rs2037142363 0.00001
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn) rs2037142277 0.00001
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=) rs771523560 0.00001
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val) rs2037142228 0.00001
NM_003079.5(SMARCE1):c.522G>A (p.Gln174=) rs761026520 0.00001
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp) rs1429023644 0.00001
NM_003079.5(SMARCE1):c.549T>C (p.Asp183=) rs752455835 0.00001
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val) rs765003978 0.00001
NM_003079.5(SMARCE1):c.580G>A (p.Ala194Thr) rs753397709 0.00001
NM_003079.5(SMARCE1):c.600C>T (p.His200=) rs990075824 0.00001
NM_003079.5(SMARCE1):c.606C>G (p.Leu202=) rs1243737488 0.00001
NM_003079.5(SMARCE1):c.647G>A (p.Arg216Gln) rs1213211505 0.00001
NM_003079.5(SMARCE1):c.657C>T (p.Val219=) rs1423245581 0.00001
NM_003079.5(SMARCE1):c.696G>A (p.Gln232=) rs2293417 0.00001
NM_003079.5(SMARCE1):c.715-19G>A rs775623781 0.00001
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln) rs1240408861 0.00001
NM_003079.5(SMARCE1):c.723A>G (p.Leu241=) rs747447517 0.00001
NM_003079.5(SMARCE1):c.741A>C (p.Gln247His) rs1356231337 0.00001
NM_003079.5(SMARCE1):c.784A>G (p.Ser262Gly) rs1432681998 0.00001
NM_003079.5(SMARCE1):c.789A>G (p.Thr263=) rs572351725 0.00001
NM_003079.5(SMARCE1):c.795A>G (p.Ser265=) rs1193419924 0.00001
NM_003079.5(SMARCE1):c.817-16G>C rs1042908466 0.00001
NM_003079.5(SMARCE1):c.817-3T>C rs779984224 0.00001
NM_003079.5(SMARCE1):c.855T>C (p.Ile285=) rs994303454 0.00001
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.901G>A (p.Glu301Lys) rs1442599198 0.00001
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) rs768536854 0.00001
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys) rs769672368 0.00001
NM_003079.5(SMARCE1):c.942T>C (p.Ser314=) rs1317450309 0.00001
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu) rs1597742452 0.00001
NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn) rs1307734637 0.00001
NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala) rs758831830 0.00001
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser) rs1176390337 0.00001
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu) rs2037085756 0.00001
NM_003079.5(SMARCE1):c.986G>A (p.Gly329Asp) rs2037085537 0.00001
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=) rs779268474 0.00001
NM_003079.5(SMARCE1):c.990G>A (p.Glu330=) rs754175611 0.00001
NC_000017.10:g.(?_38785027)_(38804103_?)dup
NC_000017.10:g.(?_38785037)_(38804103_?)del
NC_000017.10:g.(?_38787824)_(38787965_?)del
NC_000017.10:g.(?_38798697)_(38804103_?)dup
NC_000017.11:g.(?_40628785)_(40647851_?)dup
NM_003079.5(SMARCE1):c.1002CGA[1] (p.Asp335del)
NM_003079.5(SMARCE1):c.1005C>A (p.Asp335Glu)
NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp) rs1323477202
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr) rs2037085057
NM_003079.5(SMARCE1):c.1012A>G (p.Ile338Val) rs759470808
NM_003079.5(SMARCE1):c.1018A>G (p.Met340Val)
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
NM_003079.5(SMARCE1):c.1020G>T (p.Met340Ile)
NM_003079.5(SMARCE1):c.1023G>C (p.Glu341Asp)
NM_003079.5(SMARCE1):c.1025C>G (p.Thr342Arg) rs367908836
NM_003079.5(SMARCE1):c.1027+13C>G
NM_003079.5(SMARCE1):c.1027+16C>G rs779439710
NM_003079.5(SMARCE1):c.1027+17A>G
NM_003079.5(SMARCE1):c.1027+19A>G
NM_003079.5(SMARCE1):c.1027+6C>A
NM_003079.5(SMARCE1):c.1027+6C>G rs1245988748
NM_003079.5(SMARCE1):c.1027+8A>G
NM_003079.5(SMARCE1):c.1028-10G>T rs2037063345
NM_003079.5(SMARCE1):c.1028-12G>A
NM_003079.5(SMARCE1):c.1028-14A>C
NM_003079.5(SMARCE1):c.1028-20T>A
NM_003079.5(SMARCE1):c.1028-7A>G
NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)
NM_003079.5(SMARCE1):c.102C>G (p.Leu34=) rs1567848949
NM_003079.5(SMARCE1):c.1030G>A (p.Glu344Lys) rs1413261743
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1033A>G (p.Thr345Ala) rs1597741316
NM_003079.5(SMARCE1):c.1034C>G (p.Thr345Arg) rs1597741310
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn) rs751700497
NM_003079.5(SMARCE1):c.1037A>G (p.His346Arg)
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln) rs1597741306
NM_003079.5(SMARCE1):c.103G>A (p.Ala35Thr)
NM_003079.5(SMARCE1):c.1041T>G (p.Leu347=)
NM_003079.5(SMARCE1):c.1043A>G (p.Glu348Gly) rs2037063064
NM_003079.5(SMARCE1):c.1049C>G (p.Thr350Arg)
NM_003079.5(SMARCE1):c.1050A>C (p.Thr350=) rs2143980877
NM_003079.5(SMARCE1):c.1052C>G (p.Thr351Arg) rs932391748
NM_003079.5(SMARCE1):c.1053A>G (p.Thr351=)
NM_003079.5(SMARCE1):c.1053_1054delinsTA (p.Glu352Lys)
NM_003079.5(SMARCE1):c.1054G>A (p.Glu352Lys) rs2143980865
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
NM_003079.5(SMARCE1):c.1055A>C (p.Glu352Ala)
NM_003079.5(SMARCE1):c.1057A>C (p.Ser353Arg) rs2037062951
NM_003079.5(SMARCE1):c.1057A>G (p.Ser353Gly) rs2037062951
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
NM_003079.5(SMARCE1):c.1058G>A (p.Ser353Asn) rs2143980847
NM_003079.5(SMARCE1):c.1059C>T (p.Ser353=)
NM_003079.5(SMARCE1):c.1061A>G (p.Gln354Arg)
NM_003079.5(SMARCE1):c.1062A>G (p.Gln354=) rs2143980837
NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg) rs1567844710
NM_003079.5(SMARCE1):c.1065G>A (p.Gln355=) rs2143980829
NM_003079.5(SMARCE1):c.1066_1067insGTTCTTCACAACAGA (p.Gln355_Asn356insSerSerSerGlnGln) rs2143980822
NM_003079.5(SMARCE1):c.1068T>C (p.Asn356=) rs1597741295
NM_003079.5(SMARCE1):c.1068_1076dup (p.Glu358_Glu359insAspGlyGlu)
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1074A>G (p.Glu358=) rs2143980796
NM_003079.5(SMARCE1):c.1075G>A (p.Glu359Lys)
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg) rs976928947
NM_003079.5(SMARCE1):c.107A>G (p.Tyr36Cys)
NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=) rs2143980767
NM_003079.5(SMARCE1):c.1081A>G (p.Thr361Ala) rs2143980763
NM_003079.5(SMARCE1):c.1084T>C (p.Ser362Pro) rs750183985
NM_003079.5(SMARCE1):c.1086_1087delinsAT (p.Thr363Ser) rs2037062544
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala) rs1555605096
NM_003079.5(SMARCE1):c.1088C>G (p.Thr363Ser) rs1247688181
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
NM_003079.5(SMARCE1):c.1090C>G (p.Pro364Ala) rs1205865722
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del) rs1555605093
NM_003079.5(SMARCE1):c.1092T>G (p.Pro364=) rs2143980702
NM_003079.5(SMARCE1):c.1095G>A (p.Glu365=)
NM_003079.5(SMARCE1):c.1099A>G (p.Lys367Glu)
NM_003079.5(SMARCE1):c.1100A>G (p.Lys367Arg)
NM_003079.5(SMARCE1):c.1102G>T (p.Glu368Ter) rs2037062233
NM_003079.5(SMARCE1):c.1103A>G (p.Glu368Gly) rs1555605086
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp) rs2037062159
NM_003079.5(SMARCE1):c.1105_1106dup (p.Ser369fs)
NM_003079.5(SMARCE1):c.1106G>C (p.Ser369Thr)
NM_003079.5(SMARCE1):c.1107T>A (p.Ser369Arg)
NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg) rs2143980642
NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu) rs2037062100
NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val) rs2037062100
NM_003079.5(SMARCE1):c.110A>G (p.Asn37Ser) rs1597749763
NM_003079.5(SMARCE1):c.1115A>C (p.Glu372Ala) rs2037061989
NM_003079.5(SMARCE1):c.1115A>G (p.Glu372Gly)
NM_003079.5(SMARCE1):c.1115A>T (p.Glu372Val)
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg) rs2037061907
NM_003079.5(SMARCE1):c.111C>T (p.Asn37=) rs2144009134
NM_003079.5(SMARCE1):c.1120G>C (p.Val374Leu) rs1165295357
NM_003079.5(SMARCE1):c.1120del (p.Val374fs)
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala) rs1597741256
NM_003079.5(SMARCE1):c.1122C>G (p.Val374=) rs144057094
NM_003079.5(SMARCE1):c.1126A>C (p.Ser376Arg) rs2037061648
NM_003079.5(SMARCE1):c.1126A>G (p.Ser376Gly) rs2037061648
NM_003079.5(SMARCE1):c.1130T>C (p.Met377Thr)
NM_003079.5(SMARCE1):c.1131G>C (p.Met377Ile)
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser) rs915901827
NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)
NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=) rs1555605081
NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala) rs1597741239
NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)
NM_003079.5(SMARCE1):c.1146C>T (p.Thr382=) rs2143980469
NM_003079.5(SMARCE1):c.1147A>C (p.Ser383Arg)
NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly) rs1322064785
NM_003079.5(SMARCE1):c.1148G>C (p.Ser383Thr)
NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg) rs1597741226
NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp) rs1555605077
NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=) rs1597741219
NM_003079.5(SMARCE1):c.1160C>G (p.Thr387Ser)
NM_003079.5(SMARCE1):c.1163G>A (p.Gly388Asp)
NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)
NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=) rs573977743
NM_003079.5(SMARCE1):c.1166C>G (p.Ser389Trp) rs376181802
NM_003079.5(SMARCE1):c.116A>G (p.Tyr39Cys)
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp) rs2037060934
NM_003079.5(SMARCE1):c.1171A>G (p.Ser391Gly) rs2143980380
NM_003079.5(SMARCE1):c.1172G>A (p.Ser391Asn) rs1298633600
NM_003079.5(SMARCE1):c.1172G>C (p.Ser391Thr) rs1298633600
NM_003079.5(SMARCE1):c.1174A>G (p.Asn392Asp) rs2037060809
NM_003079.5(SMARCE1):c.1175A>G (p.Asn392Ser)
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly) rs775907713
NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr) rs1597741198
NM_003079.5(SMARCE1):c.1180G>C (p.Ala394Pro)
NM_003079.5(SMARCE1):c.1183A>G (p.Thr395Ala)
NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)
NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu) rs767236696
NM_003079.5(SMARCE1):c.1191G>A (p.Glu397=)
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala) rs2037060453
NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu) rs1397941319
NM_003079.5(SMARCE1):c.1198C>G (p.Pro400Ala) rs2143980289
NM_003079.5(SMARCE1):c.1198C>T (p.Pro400Ser) rs2143980289
NM_003079.5(SMARCE1):c.119G>A (p.Arg40Lys)
NM_003079.5(SMARCE1):c.1200A>G (p.Pro400=) rs2143980284
NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile) rs2037060386
NM_003079.5(SMARCE1):c.120G>T (p.Arg40Ser)
NM_003079.5(SMARCE1):c.1211T>A (p.Ile404Lys)
NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met) rs1060501396
NM_003079.5(SMARCE1):c.1213C>T (p.Pro405Ser)
NM_003079.5(SMARCE1):c.1217A>C (p.Glu406Ala) rs2037060002
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn) rs139178605
NM_003079.5(SMARCE1):c.1219G>T (p.Asp407Tyr)
NM_003079.5(SMARCE1):c.121C>T (p.Leu41=)
NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys) rs1487515718
NM_003079.5(SMARCE1):c.1226A>T (p.Lys409Ile)
NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=) rs1486670960
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys) rs62622817
NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=) rs1555605056
NM_003079.5(SMARCE1):c.1234_1235insTTT (p.*412Pheext*1) rs2143980165
NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=) rs2143980159
NM_003079.5(SMARCE1):c.123G>T (p.Leu41=) rs2144009122
NM_003079.5(SMARCE1):c.130A>T (p.Asn44Tyr)
NM_003079.5(SMARCE1):c.131A>C (p.Asn44Thr) rs761846539
NM_003079.5(SMARCE1):c.132C>G (p.Asn44Lys) rs570462841
NM_003079.5(SMARCE1):c.132C>T (p.Asn44=)
NM_003079.5(SMARCE1):c.133C>G (p.Pro45Ala)
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser) rs1597749741
NM_003079.5(SMARCE1):c.134C>T (p.Pro45Leu) rs1249552995
NM_003079.5(SMARCE1):c.137G>A (p.Gly46Asp) rs2037209184
NM_003079.5(SMARCE1):c.138C>T (p.Gly46=)
NM_003079.5(SMARCE1):c.141C>T (p.Thr47=)
NM_003079.5(SMARCE1):c.147C>T (p.Ser49=)
NM_003079.5(SMARCE1):c.148C>A (p.Arg50=) rs2037209097
NM_003079.5(SMARCE1):c.148C>G (p.Arg50Gly) rs2037209097
NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln) rs1060501394
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
NM_003079.5(SMARCE1):c.152T>G (p.Val51Gly) rs1597749716
NM_003079.5(SMARCE1):c.155C>T (p.Thr52Met) rs909376128
NM_003079.5(SMARCE1):c.156+10T>G rs2037208869
NM_003079.5(SMARCE1):c.156+13A>G
NM_003079.5(SMARCE1):c.156+15T>C
NM_003079.5(SMARCE1):c.156+16A>G
NM_003079.5(SMARCE1):c.156+17T>C
NM_003079.5(SMARCE1):c.156+20C>A
NM_003079.5(SMARCE1):c.156+2T>C
NM_003079.5(SMARCE1):c.156+4G>A
NM_003079.5(SMARCE1):c.156+6A>G
NM_003079.5(SMARCE1):c.156+9A>G rs2144009011
NM_003079.5(SMARCE1):c.157-11C>T
NM_003079.5(SMARCE1):c.157-12A>T
NM_003079.5(SMARCE1):c.157-13A>G
NM_003079.5(SMARCE1):c.157-19G>A
NM_003079.5(SMARCE1):c.157-20T>G
NM_003079.5(SMARCE1):c.157-4G>T rs141832779
NM_003079.5(SMARCE1):c.157-6del rs2037158901
NM_003079.5(SMARCE1):c.165T>C (p.Ser55=) rs2143999615
NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)
NM_003079.5(SMARCE1):c.169A>T (p.Ile57Phe) rs2143999604
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.1dup (p.Met1fs) rs2144015619
NM_003079.5(SMARCE1):c.204G>A (p.Lys68=) rs1555605896
NM_003079.5(SMARCE1):c.207G>T (p.Pro69=)
NM_003079.5(SMARCE1):c.20A>C (p.Tyr7Ser)
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003079.5(SMARCE1):c.224G>T (p.Arg75Met)
NM_003079.5(SMARCE1):c.225G>A (p.Arg75=) rs2143999523
NM_003079.5(SMARCE1):c.228C>T (p.Tyr76=) rs2143999516
NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)
NM_003079.5(SMARCE1):c.234A>G (p.Arg78=) rs2143999505
NM_003079.5(SMARCE1):c.237+2T>C rs397509406
NM_003079.5(SMARCE1):c.237+3A>G rs2143999496
NM_003079.5(SMARCE1):c.237+4G>A rs2037158242
NM_003079.5(SMARCE1):c.237+8C>T
NM_003079.5(SMARCE1):c.237+9T>G
NM_003079.5(SMARCE1):c.237G>A (p.Lys79=)
NM_003079.5(SMARCE1):c.238-11T>C
NM_003079.5(SMARCE1):c.238-16C>G
NM_003079.5(SMARCE1):c.238-18A>T rs2143997501
NM_003079.5(SMARCE1):c.238-3A>G
NM_003079.5(SMARCE1):c.238-4dup
NM_003079.5(SMARCE1):c.240C>G (p.Val80=)
NM_003079.5(SMARCE1):c.248A>G (p.Gln83Arg) rs2037147392
NM_003079.5(SMARCE1):c.249A>G (p.Gln83=)
NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)
NM_003079.5(SMARCE1):c.268G>A (p.Asp90Asn)
NM_003079.5(SMARCE1):c.271C>T (p.Leu91=)
NM_003079.5(SMARCE1):c.273A>G (p.Leu91=)
NM_003079.5(SMARCE1):c.275dup (p.Leu93fs)
NM_003079.5(SMARCE1):c.279G>A (p.Leu93=) rs2037147129
NM_003079.5(SMARCE1):c.279G>T (p.Leu93Phe) rs2037147129
NM_003079.5(SMARCE1):c.285G>A (p.Glu95=)
NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser) rs1413469817
NM_003079.5(SMARCE1):c.291C>T (p.Gly97=)
NM_003079.5(SMARCE1):c.298A>T (p.Ile100Phe)
NM_003079.5(SMARCE1):c.301G>A (p.Gly101Ser)
NM_003079.5(SMARCE1):c.302G>A (p.Gly101Asp) rs2037147008
NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter) rs397509407
NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter) rs1060501395
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=) rs1597746306
NM_003079.5(SMARCE1):c.326A>G (p.Asp109Gly) rs2143997323
NM_003079.5(SMARCE1):c.328G>A (p.Glu110Lys) rs2143997316
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) rs2143997316
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp) rs372964610
NM_003079.5(SMARCE1):c.331G>C (p.Glu111Gln) rs878854601
NM_003079.5(SMARCE1):c.332A>G (p.Glu111Gly) rs2037146794
NM_003079.5(SMARCE1):c.333A>G (p.Glu111=)
NM_003079.5(SMARCE1):c.337C>A (p.Gln113Lys) rs2143997301
NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter) rs2037146773
NM_003079.5(SMARCE1):c.342A>G (p.Glu114=) rs2143997291
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
NM_003079.5(SMARCE1):c.348A>G (p.Leu116=) rs2143997279
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro) rs2037247946
NM_003079.5(SMARCE1):c.352G>A (p.Glu118Lys) rs1131691457
NM_003079.5(SMARCE1):c.365A>G (p.Glu122Gly)
NM_003079.5(SMARCE1):c.366A>G (p.Glu122=) rs2143997250
NM_003079.5(SMARCE1):c.369+10G>A rs199790447
NM_003079.5(SMARCE1):c.369+13C>T
NM_003079.5(SMARCE1):c.369+15C>T rs747316377
NM_003079.5(SMARCE1):c.369+17C>T rs2143997153
NM_003079.5(SMARCE1):c.369+18A>T
NM_003079.5(SMARCE1):c.369+1G>A rs2037146593
NM_003079.5(SMARCE1):c.369+1G>T rs2037146593
NM_003079.5(SMARCE1):c.369+2_369+5del rs2143997220
NM_003079.5(SMARCE1):c.369+4G>A rs1597746280
NM_003079.5(SMARCE1):c.369+4G>C rs1597746280
NM_003079.5(SMARCE1):c.369+5G>A rs2037146547
NM_003079.5(SMARCE1):c.369+6G>A rs200391280
NM_003079.5(SMARCE1):c.369+8A>G rs2143997205
NM_003079.5(SMARCE1):c.369+9G>T rs2143997200
NM_003079.5(SMARCE1):c.36C>T (p.Thr12=)
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003079.5(SMARCE1):c.370-12T>C
NM_003079.5(SMARCE1):c.370-13A>G
NM_003079.5(SMARCE1):c.370-14del rs1272403496
NM_003079.5(SMARCE1):c.370-15A>T
NM_003079.5(SMARCE1):c.370-17A>T
NM_003079.5(SMARCE1):c.370-19A>G
NM_003079.5(SMARCE1):c.370-20A>C
NM_003079.5(SMARCE1):c.370-6T>C rs1060501397
NM_003079.5(SMARCE1):c.370-9G>T rs2143996600
NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)
NM_003079.5(SMARCE1):c.372dup (p.Glu125fs)
NM_003079.5(SMARCE1):c.373G>C (p.Glu125Gln) rs762580699
NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)
NM_003079.5(SMARCE1):c.37C>T (p.Pro13Ser) rs1398882535
NM_003079.5(SMARCE1):c.380A>G (p.Asn127Ser) rs2143996566
NM_003079.5(SMARCE1):c.384A>G (p.Glu128=) rs2143996550
NM_003079.5(SMARCE1):c.388A>G (p.Met130Val) rs2143996528
NM_003079.5(SMARCE1):c.38C>T (p.Pro13Leu)
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
NM_003079.5(SMARCE1):c.395C>T (p.Ala132Val)
NM_003079.5(SMARCE1):c.396C>G (p.Ala132=)
NM_003079.5(SMARCE1):c.396C>T (p.Ala132=)
NM_003079.5(SMARCE1):c.398A>G (p.Tyr133Cys) rs2143996507
NM_003079.5(SMARCE1):c.402T>C (p.His134=) rs1597746120
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser) rs2143996465
NM_003079.5(SMARCE1):c.40G>A (p.Ala14Thr)
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
NM_003079.5(SMARCE1):c.414G>A (p.Ala138=) rs555651762
NM_003079.5(SMARCE1):c.414G>T (p.Ala138=) rs555651762
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr) rs2037143160
NM_003079.5(SMARCE1):c.421G>T (p.Ala141Ser)
NM_003079.5(SMARCE1):c.423T>C (p.Ala141=) rs2143996401
NM_003079.5(SMARCE1):c.423T>G (p.Ala141=)
NM_003079.5(SMARCE1):c.425A>T (p.Tyr142Phe) rs1567847087
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val) rs772432672
NM_003079.5(SMARCE1):c.435A>C (p.Ala145=)
NM_003079.5(SMARCE1):c.439del (p.Ser147fs)
NM_003079.5(SMARCE1):c.43C>A (p.Pro15Thr)
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys) rs147065057
NM_003079.5(SMARCE1):c.444T>G (p.Arg148=) rs2143996339
NM_003079.5(SMARCE1):c.446C>T (p.Ala149Val) rs2037142942
NM_003079.5(SMARCE1):c.450A>G (p.Glu150=) rs2143996312
NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs) rs1555605750
NM_003079.5(SMARCE1):c.462G>C (p.Glu154Asp) rs2143996251
NM_003079.5(SMARCE1):c.465A>G (p.Glu155=) rs2143996244
NM_003079.5(SMARCE1):c.467A>G (p.Glu156Gly)
NM_003079.5(SMARCE1):c.470G>C (p.Ser157Thr)
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter) rs1251821702
NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)
NM_003079.5(SMARCE1):c.477G>A (p.Gln159=) rs1597746072
NM_003079.5(SMARCE1):c.478A>G (p.Arg160Gly)
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg) rs1555605748
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=) rs1282104211
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr) rs878854602
NM_003079.5(SMARCE1):c.485C>T (p.Ser162Phe)
NM_003079.5(SMARCE1):c.486T>G (p.Ser162=) rs1597746062
NM_003079.5(SMARCE1):c.488G>T (p.Arg163Leu)
NM_003079.5(SMARCE1):c.489C>T (p.Arg163=) rs2143996156
NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter) rs2143996133
NM_003079.5(SMARCE1):c.495G>A (p.Glu165=)
NM_003079.5(SMARCE1):c.499G>A (p.Gly167Arg)
NM_003079.5(SMARCE1):c.501A>G (p.Gly167=) rs759123413
NM_003079.5(SMARCE1):c.503A>T (p.Glu168Val)
NM_003079.5(SMARCE1):c.506del (p.Pro169fs)
NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys) rs1555605744
NM_003079.5(SMARCE1):c.51+10A>C rs898142232
NM_003079.5(SMARCE1):c.51+19G>A rs1597751980
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val) rs2037142335
NM_003079.5(SMARCE1):c.512T>C (p.Met171Thr)
NM_003079.5(SMARCE1):c.514A>T (p.Ser172Cys)
NM_003079.5(SMARCE1):c.52-12T>G
NM_003079.5(SMARCE1):c.52-20G>T
NM_003079.5(SMARCE1):c.52-3C>T
NM_003079.5(SMARCE1):c.52-5A>G rs2037210067
NM_003079.5(SMARCE1):c.52-6C>T
NM_003079.5(SMARCE1):c.521A>G (p.Gln174Arg) rs2143996031
NM_003079.5(SMARCE1):c.522G>C (p.Gln174His)
NM_003079.5(SMARCE1):c.523C>G (p.Pro175Ala) rs2143996013
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=) rs773720929
NM_003079.5(SMARCE1):c.525del (p.Ala176fs) rs878854603
NM_003079.5(SMARCE1):c.527C>T (p.Ala176Val) rs2143995982
NM_003079.5(SMARCE1):c.533A>T (p.Asp178Val) rs2143995960
NM_003079.5(SMARCE1):c.534T>C (p.Asp178=)
NM_003079.5(SMARCE1):c.536C>T (p.Pro179Leu) rs1160889864
NM_003079.5(SMARCE1):c.539A>G (p.Asp180Gly)
NM_003079.5(SMARCE1):c.539A>T (p.Asp180Val) rs2037142009
NM_003079.5(SMARCE1):c.53A>T (p.Gln18Leu)
NM_003079.5(SMARCE1):c.540T>C (p.Asp180=)
NM_003079.5(SMARCE1):c.541+10A>G rs1240216513
NM_003079.5(SMARCE1):c.541+11A>G
NM_003079.5(SMARCE1):c.541+14_541+15insC
NM_003079.5(SMARCE1):c.541+14del rs766497450
NM_003079.5(SMARCE1):c.541+14dup
NM_003079.5(SMARCE1):c.541+17G>A
NM_003079.5(SMARCE1):c.541+18G>C rs1192376700
NM_003079.5(SMARCE1):c.541+1G>A rs1597746020
NM_003079.5(SMARCE1):c.541+2T>C
NM_003079.5(SMARCE1):c.541+3A>G rs1555605737
NM_003079.5(SMARCE1):c.541+5A>G
NM_003079.5(SMARCE1):c.541+7G>T
NM_003079.5(SMARCE1):c.541+8A>C
NM_003079.5(SMARCE1):c.541+8A>G rs1478738793
NM_003079.5(SMARCE1):c.541+9A>C rs2143995891
NM_003079.5(SMARCE1):c.542-13T>G
NM_003079.5(SMARCE1):c.542-15A>C
NM_003079.5(SMARCE1):c.542-16A>G rs2143988665
NM_003079.5(SMARCE1):c.542-17C>G
NM_003079.5(SMARCE1):c.542-2A>G rs2143988635
NM_003079.5(SMARCE1):c.542-4C>G
NM_003079.5(SMARCE1):c.542-4C>T
NM_003079.5(SMARCE1):c.542-6C>T
NM_003079.5(SMARCE1):c.542-7A>G
NM_003079.5(SMARCE1):c.542-8C>G rs2143988643
NM_003079.5(SMARCE1):c.542-8C>T rs2143988643
NM_003079.5(SMARCE1):c.546T>C (p.Tyr182=) rs1555605440
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn) rs2037103551
NM_003079.5(SMARCE1):c.548A>G (p.Asp183Gly)
NM_003079.5(SMARCE1):c.552T>A (p.Asp184Glu) rs1555605438
NM_003079.5(SMARCE1):c.552T>C (p.Asp184=) rs1555605438
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
NM_003079.5(SMARCE1):c.555C>T (p.Gly185=) rs2143988592
NM_003079.5(SMARCE1):c.561A>G (p.Ser187=)
NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)
NM_003079.5(SMARCE1):c.570T>C (p.His190=)
NM_003079.5(SMARCE1):c.572C>T (p.Thr191Ile)
NM_003079.5(SMARCE1):c.572dup (p.Ala192fs) rs397509408
NM_003079.5(SMARCE1):c.574G>A (p.Ala192Thr) rs2143988542
NM_003079.5(SMARCE1):c.577A>G (p.Thr193Ala)
NM_003079.5(SMARCE1):c.578C>T (p.Thr193Ile) rs1319163552
NM_003079.5(SMARCE1):c.580G>T (p.Ala194Ser)
NM_003079.5(SMARCE1):c.582C>G (p.Ala194=) rs765736374
NM_003079.5(SMARCE1):c.582C>T (p.Ala194=) rs765736374
NM_003079.5(SMARCE1):c.584G>A (p.Arg195His) rs1303849808
NM_003079.5(SMARCE1):c.585T>C (p.Arg195=)
NM_003079.5(SMARCE1):c.585_586delinsA (p.Phe196fs)
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
NM_003079.5(SMARCE1):c.58C>T (p.Pro20Ser)
NM_003079.5(SMARCE1):c.594A>G (p.Arg198=)
NM_003079.5(SMARCE1):c.597C>T (p.Asn199=) rs878854604
NM_003079.5(SMARCE1):c.598C>T (p.His200Tyr) rs2143988460
NM_003079.5(SMARCE1):c.601C>T (p.Arg201Cys) rs1567845807
NM_003079.5(SMARCE1):c.602G>A (p.Arg201His) rs761299232
NM_003079.5(SMARCE1):c.605T>G (p.Leu202Arg)
NM_003079.5(SMARCE1):c.607A>C (p.Ile203Leu)
NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
NM_003079.5(SMARCE1):c.618T>G (p.Ile206Met)
NM_003079.5(SMARCE1):c.61A>G (p.Ser21Gly)
NM_003079.5(SMARCE1):c.621T>A (p.Leu207=)
NM_003079.5(SMARCE1):c.622A>C (p.Ser208Arg) rs2143988407
NM_003079.5(SMARCE1):c.624T>C (p.Ser208=) rs1567845801
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) rs797045990
NM_003079.5(SMARCE1):c.627G>C (p.Glu209Asp)
NM_003079.5(SMARCE1):c.629G>A (p.Ser210Asn)
NM_003079.5(SMARCE1):c.630T>C (p.Ser210=) rs773810706
NM_003079.5(SMARCE1):c.631G>T (p.Val211Leu) rs2037102677
NM_003079.5(SMARCE1):c.636G>A (p.Val212=) rs2143988373
NM_003079.5(SMARCE1):c.636G>T (p.Val212=) rs2143988373
NM_003079.5(SMARCE1):c.637C>T (p.Pro213Ser)
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=) rs1597749796
NM_003079.5(SMARCE1):c.640G>A (p.Asp214Asn) rs2143988369
NM_003079.5(SMARCE1):c.646C>T (p.Arg216Trp) rs2143988352
NM_003079.5(SMARCE1):c.648G>T (p.Arg216=)
NM_003079.5(SMARCE1):c.657C>G (p.Val219=)
NM_003079.5(SMARCE1):c.660A>G (p.Thr220=)
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
NM_003079.5(SMARCE1):c.667A>G (p.Arg223Gly)
NM_003079.5(SMARCE1):c.66A>G (p.Thr22=) rs1597749794
NM_003079.5(SMARCE1):c.66A>T (p.Thr22=)
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
NM_003079.5(SMARCE1):c.674A>G (p.Gln225Arg)
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg) rs2037102487
NM_003079.5(SMARCE1):c.683_685delinsT (p.Lys228fs)
NM_003079.5(SMARCE1):c.685C>A (p.Arg229=) rs141619224
NM_003079.5(SMARCE1):c.685C>T (p.Arg229Trp)
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln) rs768981981
NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter) rs2143988272
NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)
NM_003079.5(SMARCE1):c.69A>G (p.Pro23=) rs766668916
NM_003079.5(SMARCE1):c.7+10A>C
NM_003079.5(SMARCE1):c.7+11dup rs2144015604
NM_003079.5(SMARCE1):c.7+12T>A
NM_003079.5(SMARCE1):c.7+12T>C
NM_003079.5(SMARCE1):c.7+16T>C
NM_003079.5(SMARCE1):c.7+17A>G
NM_003079.5(SMARCE1):c.7+19A>G rs2144015593
NM_003079.5(SMARCE1):c.705G>T (p.Met235Ile)
NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile) rs745924628
NM_003079.5(SMARCE1):c.714+14A>G
NM_003079.5(SMARCE1):c.714+15C>T
NM_003079.5(SMARCE1):c.714+16A>G
NM_003079.5(SMARCE1):c.714+17T>C rs1321696308
NM_003079.5(SMARCE1):c.714+19C>A
NM_003079.5(SMARCE1):c.714+1G>A rs2143988221
NM_003079.5(SMARCE1):c.714+6G>A
NM_003079.5(SMARCE1):c.714+8C>T
NM_003079.5(SMARCE1):c.714+9A>G
NM_003079.5(SMARCE1):c.715-11C>T rs746013361
NM_003079.5(SMARCE1):c.715-11dup
NM_003079.5(SMARCE1):c.715-12C>A
NM_003079.5(SMARCE1):c.715-12C>G rs769970957
NM_003079.5(SMARCE1):c.715-12C>T
NM_003079.5(SMARCE1):c.715-15G>A
NM_003079.5(SMARCE1):c.715-20A>C
NM_003079.5(SMARCE1):c.715-20A>G
NM_003079.5(SMARCE1):c.715-3C>G
NM_003079.5(SMARCE1):c.715-4G>A
NM_003079.5(SMARCE1):c.715-8del
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.726A>G (p.Glu242=)
NM_003079.5(SMARCE1):c.729T>A (p.Ala243=)
NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
NM_003079.5(SMARCE1):c.741A>G (p.Gln247=) rs1356231337
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu) rs2037096994
NM_003079.5(SMARCE1):c.743T>C (p.Ile248Thr)
NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp) rs1555605350
NM_003079.5(SMARCE1):c.750A>G (p.Glu250=) rs1555605350
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter) rs1057518166
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
NM_003079.5(SMARCE1):c.756C>T (p.His252=) rs2143987018
NM_003079.5(SMARCE1):c.757C>G (p.Gln253Glu)
NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter) rs1555605347
NM_003079.5(SMARCE1):c.760_762del (p.Glu254del)
NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del) rs769002311
NM_003079.5(SMARCE1):c.764A>G (p.Lys255Arg) rs2037096715
NM_003079.5(SMARCE1):c.765G>A (p.Lys255=) rs749090821
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr) rs542193901
NM_003079.5(SMARCE1):c.769A>C (p.Arg257=) rs1597743097
NM_003079.5(SMARCE1):c.770G>A (p.Arg257Lys)
NM_003079.5(SMARCE1):c.771G>C (p.Arg257Ser)
NM_003079.5(SMARCE1):c.774A>G (p.Lys258=)
NM_003079.5(SMARCE1):c.777C>G (p.Phe259Leu)
NM_003079.5(SMARCE1):c.777C>T (p.Phe259=)
NM_003079.5(SMARCE1):c.778C>T (p.Leu260=)
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp) rs2143986944
NM_003079.5(SMARCE1):c.786C>T (p.Ser262=) rs2143986926
NM_003079.5(SMARCE1):c.788C>G (p.Thr263Arg) rs2037096454
NM_003079.5(SMARCE1):c.790G>A (p.Asp264Asn) rs1555605342
NM_003079.5(SMARCE1):c.791A>G (p.Asp264Gly)
NM_003079.5(SMARCE1):c.794C>T (p.Ser265Leu)
NM_003079.5(SMARCE1):c.796T>C (p.Phe266Leu) rs2143986878
NM_003079.5(SMARCE1):c.8-3C>G
NM_003079.5(SMARCE1):c.802A>C (p.Asn268His) rs963534528
NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)
NM_003079.5(SMARCE1):c.803A>G (p.Asn268Ser) rs2037096315
NM_003079.5(SMARCE1):c.804T>C (p.Asn268=)
NM_003079.5(SMARCE1):c.808del (p.Arg272fs) rs2143986851
NM_003079.5(SMARCE1):c.810T>C (p.Leu270=)
NM_003079.5(SMARCE1):c.811A>G (p.Lys271Glu)
NM_003079.5(SMARCE1):c.814del (p.Arg272fs)
NM_003079.5(SMARCE1):c.815G>A (p.Arg272Lys)
NM_003079.5(SMARCE1):c.816+12A>G
NM_003079.5(SMARCE1):c.816+14A>G rs2143986770
NM_003079.5(SMARCE1):c.816+7G>A rs2143986787
NM_003079.5(SMARCE1):c.816+8T>C rs2143986777
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser) rs2037096217
NM_003079.5(SMARCE1):c.817-12T>G
NM_003079.5(SMARCE1):c.817-15T>A
NM_003079.5(SMARCE1):c.817-15T>C
NM_003079.5(SMARCE1):c.817-15T>G
NM_003079.5(SMARCE1):c.817-15dup rs747318581
NM_003079.5(SMARCE1):c.817-16G>T rs1042908466
NM_003079.5(SMARCE1):c.817-18C>T
NM_003079.5(SMARCE1):c.817-20T>A rs2143985329
NM_003079.5(SMARCE1):c.817-2A>G rs2143985266
NM_003079.5(SMARCE1):c.817-9T>C rs749106268
NM_003079.5(SMARCE1):c.817-9del
NM_003079.5(SMARCE1):c.819G>A (p.Leu273=) rs2143985259
NM_003079.5(SMARCE1):c.81A>G (p.Gly27=) rs2144009232
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr) rs1413987767
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp) rs1555605260
NM_003079.5(SMARCE1):c.824G>T (p.Gly275Val)
NM_003079.5(SMARCE1):c.827T>C (p.Leu276Pro)
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His) rs2144009228
NM_003079.5(SMARCE1):c.831A>G (p.Lys277=) rs780880269
NM_003079.5(SMARCE1):c.832G>A (p.Val278Ile) rs2037087580
NM_003079.5(SMARCE1):c.833T>C (p.Val278Ala) rs2143985196
NM_003079.5(SMARCE1):c.834A>G (p.Val278=) rs1555605256
NM_003079.5(SMARCE1):c.839T>C (p.Val280Ala)
NM_003079.5(SMARCE1):c.841G>A (p.Asp281Asn)
NM_003079.5(SMARCE1):c.843T>C (p.Asp281=) rs1401541142
NM_003079.5(SMARCE1):c.844A>G (p.Met282Val) rs1597742553
NM_003079.5(SMARCE1):c.847G>C (p.Glu283Gln)
NM_003079.5(SMARCE1):c.849G>T (p.Glu283Asp) rs2143985157
NM_003079.5(SMARCE1):c.849del (p.Ile285fs) rs2037087393
NM_003079.5(SMARCE1):c.84C>T (p.Tyr28=) rs2144009223
NM_003079.5(SMARCE1):c.850A>G (p.Lys284Glu)
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val) rs2143985147
NM_003079.5(SMARCE1):c.854T>C (p.Ile285Thr) rs1597742548
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr) rs751048883
NM_003079.5(SMARCE1):c.860C>T (p.Ala287Val)
NM_003079.5(SMARCE1):c.861T>C (p.Ala287=) rs2143985114
NM_003079.5(SMARCE1):c.862G>A (p.Glu288Lys) rs2143985106
NM_003079.5(SMARCE1):c.867T>C (p.Ile289=) rs2143985103
NM_003079.5(SMARCE1):c.869C>G (p.Ala290Gly) rs758923998
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val) rs758923998
NM_003079.5(SMARCE1):c.86A>G (p.Asn29Ser) rs760888905
NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter) rs2037087179
NM_003079.5(SMARCE1):c.874_877del (p.Ala292fs)
NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys) rs2143985056
NM_003079.5(SMARCE1):c.881A>G (p.Glu294Gly)
NM_003079.5(SMARCE1):c.882A>G (p.Glu294=) rs753014603
NM_003079.5(SMARCE1):c.885G>T (p.Gln295His) rs2037087059
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly) rs2037087035
NM_003079.5(SMARCE1):c.887C>T (p.Ala296Val)
NM_003079.5(SMARCE1):c.888C>G (p.Ala296=) rs898665020
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly) rs562702157
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His) rs1172017371
NM_003079.5(SMARCE1):c.890G>T (p.Arg297Leu)
NM_003079.5(SMARCE1):c.891C>G (p.Arg297=)
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.896G>C (p.Arg299Thr) rs1555605248
NM_003079.5(SMARCE1):c.896G>T (p.Arg299Met) rs1555605248
NM_003079.5(SMARCE1):c.897G>A (p.Arg299=) rs754006294
NM_003079.5(SMARCE1):c.899A>G (p.Gln300Arg) rs766568737
NM_003079.5(SMARCE1):c.901G>C (p.Glu301Gln)
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp) rs760713355
NM_003079.5(SMARCE1):c.909G>C (p.Arg303Ser) rs2037086696
NM_003079.5(SMARCE1):c.90A>G (p.Pro30=) rs750602675
NM_003079.5(SMARCE1):c.912G>A (p.Glu304=)
NM_003079.5(SMARCE1):c.913A>G (p.Lys305Glu) rs2143984936
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
NM_003079.5(SMARCE1):c.916G>A (p.Glu306Lys)
NM_003079.5(SMARCE1):c.918G>A (p.Glu306=) rs2143984915
NM_003079.5(SMARCE1):c.919G>A (p.Ala307Thr) rs2037086571
NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)
NM_003079.5(SMARCE1):c.927G>A (p.Glu309=) rs2143984870
NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs) rs2144009190
NM_003079.5(SMARCE1):c.930_949dup (p.Ser317fs) rs2037085970
NM_003079.5(SMARCE1):c.934G>A (p.Glu312Lys)
NM_003079.5(SMARCE1):c.935A>G (p.Glu312Gly) rs2037086336
NM_003079.5(SMARCE1):c.937C>G (p.Arg313Gly)
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu) rs201577008
NM_003079.5(SMARCE1):c.944A>C (p.Gln315Pro)
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_003079.5(SMARCE1):c.945G>A (p.Gln315=) rs1060504226
NM_003079.5(SMARCE1):c.94A>G (p.Ser32Gly) rs1162139233
NM_003079.5(SMARCE1):c.955G>T (p.Val319Phe)
NM_003079.5(SMARCE1):c.958C>G (p.Pro320Ala)
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn) rs1597749777
NM_003079.5(SMARCE1):c.962A>T (p.Glu321Val)
NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)
NM_003079.5(SMARCE1):c.967G>T (p.Glu323Ter)
NM_003079.5(SMARCE1):c.969A>G (p.Glu323=)
NM_003079.5(SMARCE1):c.96T>C (p.Ser32=) rs2144009165
NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu) rs1555605231
NM_003079.5(SMARCE1):c.975A>G (p.Ala325=)
NM_003079.5(SMARCE1):c.978T>C (p.Ala326=) rs2143984672
NM_003079.5(SMARCE1):c.986_1000dup (p.Lys333_Asp334insGlyGluGluLysLys)
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
NM_003079.5(SMARCE1):c.989_990delinsGC (p.Glu330Gly)
NM_003079.5(SMARCE1):c.98A>G (p.His33Arg)
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del) rs2143984558
NM_003079.5(SMARCE1):c.992A>G (p.Glu331Gly)
NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr) rs766656583
NM_003079.5(SMARCE1):c.995A>G (p.Lys332Arg)
NM_003079.5(SMARCE1):c.998A>G (p.Lys333Arg) rs948161312

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