NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)
|
rs201577008
|
0.00007
|
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.1095G>C (p.Glu365Asp)
|
rs773859296
|
0.00005
|
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)
|
rs377136485
|
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.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.369G>A (p.Lys123=)
|
rs746320191
|
0.00003
|
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg)
|
rs1307270981
|
0.00003
|
NM_003079.5(SMARCE1):c.1010A>G (p.Asn337Ser)
|
rs765235194
|
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.643G>A (p.Val215Ile)
|
rs376327613
|
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+5C>G
|
rs771556643
|
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.1090C>T (p.Pro364Ser)
|
rs1205865722
|
0.00001
|
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)
|
rs746301638
|
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.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.1210A>G (p.Ile404Val)
|
rs751165188
|
0.00001
|
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)
|
rs767835921
|
0.00001
|
NM_003079.5(SMARCE1):c.173C>T (p.Thr58Met)
|
rs1353575590
|
0.00001
|
NM_003079.5(SMARCE1):c.238-15T>A
|
rs766494520
|
0.00001
|
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu)
|
rs1415603265
|
0.00001
|
NM_003079.5(SMARCE1):c.386C>A (p.Ser129Tyr)
|
rs769255223
|
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.515G>A (p.Ser172Asn)
|
rs2037142277
|
0.00001
|
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val)
|
rs2037142228
|
0.00001
|
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp)
|
rs1429023644
|
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.647G>A (p.Arg216Gln)
|
rs1213211505
|
0.00001
|
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln)
|
rs1240408861
|
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.817-3T>C
|
rs779984224
|
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.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
|
NC_000017.10:g.(?_38785027)_(38804103_?)dup
|
|
|
NC_000017.10:g.(?_38798697)_(38804103_?)dup
|
|
|
NC_000017.11:g.(?_40628785)_(40647851_?)dup
|
|
|
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.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+6C>A
|
|
|
NM_003079.5(SMARCE1):c.1027+6C>G
|
rs1245988748
|
|
NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)
|
|
|
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.1043A>G (p.Glu348Gly)
|
rs2037063064
|
|
NM_003079.5(SMARCE1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_003079.5(SMARCE1):c.1052C>G (p.Thr351Arg)
|
rs932391748
|
|
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.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.1061A>G (p.Gln354Arg)
|
|
|
NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg)
|
rs1567844710
|
|
NM_003079.5(SMARCE1):c.1066_1067insGTTCTTCACAACAGA (p.Gln355_Asn356insSerSerSerGlnGln)
|
rs2143980822
|
|
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.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.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.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.1106G>C (p.Ser369Thr)
|
|
|
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.1117G>A (p.Gly373Arg)
|
rs2037061907
|
|
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.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.113A>G (p.Asn38Ser)
|
rs915901827
|
|
NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)
|
|
|
NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala)
|
rs1597741239
|
|
NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)
|
|
|
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.1163G>A (p.Gly388Asp)
|
|
|
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.1180G>A (p.Ala394Thr)
|
rs1597741198
|
|
NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu)
|
rs767236696
|
|
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.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.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.131A>C (p.Asn44Thr)
|
rs761846539
|
|
NM_003079.5(SMARCE1):c.132C>G (p.Asn44Lys)
|
rs570462841
|
|
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.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+4G>A
|
|
|
NM_003079.5(SMARCE1):c.156+6A>G
|
|
|
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.22G>A (p.Ala8Thr)
|
|
|
NM_003079.5(SMARCE1):c.237+3A>G
|
rs2143999496
|
|
NM_003079.5(SMARCE1):c.237+4G>A
|
rs2037158242
|
|
NM_003079.5(SMARCE1):c.237G>A (p.Lys79=)
|
|
|
NM_003079.5(SMARCE1):c.248A>G (p.Gln83Arg)
|
rs2037147392
|
|
NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)
|
|
|
NM_003079.5(SMARCE1):c.268G>A (p.Asp90Asn)
|
|
|
NM_003079.5(SMARCE1):c.279G>T (p.Leu93Phe)
|
rs2037147129
|
|
NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser)
|
rs1413469817
|
|
NM_003079.5(SMARCE1):c.298A>T (p.Ile100Phe)
|
|
|
NM_003079.5(SMARCE1):c.302G>A (p.Gly101Asp)
|
rs2037147008
|
|
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)
|
rs2037146907
|
|
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.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.337C>A (p.Gln113Lys)
|
rs2143997301
|
|
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
|
|
|
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.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.370-10T>C
|
rs763801620
|
|
NM_003079.5(SMARCE1):c.370-6T>C
|
rs1060501397
|
|
NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)
|
|
|
NM_003079.5(SMARCE1):c.373G>C (p.Glu125Gln)
|
rs762580699
|
|
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.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.398A>G (p.Tyr133Cys)
|
rs2143996507
|
|
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.421G>A (p.Ala141Thr)
|
rs2037143160
|
|
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.442C>T (p.Arg148Cys)
|
rs147065057
|
|
NM_003079.5(SMARCE1):c.446C>T (p.Ala149Val)
|
rs2037142942
|
|
NM_003079.5(SMARCE1):c.462G>C (p.Glu154Asp)
|
rs2143996251
|
|
NM_003079.5(SMARCE1):c.467A>G (p.Glu156Gly)
|
|
|
NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)
|
|
|
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg)
|
rs1555605748
|
|
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr)
|
rs878854602
|
|
NM_003079.5(SMARCE1):c.485C>T (p.Ser162Phe)
|
|
|
NM_003079.5(SMARCE1):c.489C>T (p.Arg163=)
|
rs2143996156
|
|
NM_003079.5(SMARCE1):c.499G>A (p.Gly167Arg)
|
|
|
NM_003079.5(SMARCE1):c.503A>T (p.Glu168Val)
|
|
|
NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys)
|
rs1555605744
|
|
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val)
|
rs2037142335
|
|
NM_003079.5(SMARCE1):c.52-3C>T
|
|
|
NM_003079.5(SMARCE1):c.52-5A>G
|
rs2037210067
|
|
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.527C>T (p.Ala176Val)
|
rs2143995982
|
|
NM_003079.5(SMARCE1):c.533A>T (p.Asp178Val)
|
rs2143995960
|
|
NM_003079.5(SMARCE1):c.536C>T (p.Pro179Leu)
|
rs1160889864
|
|
NM_003079.5(SMARCE1):c.539A>T (p.Asp180Val)
|
rs2037142009
|
|
NM_003079.5(SMARCE1):c.541+17G>A
|
|
|
NM_003079.5(SMARCE1):c.541+3A>G
|
rs1555605737
|
|
NM_003079.5(SMARCE1):c.541+5A>G
|
|
|
NM_003079.5(SMARCE1):c.542-17C>G
|
|
|
NM_003079.5(SMARCE1):c.542-8C>G
|
rs2143988643
|
|
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn)
|
rs2037103551
|
|
NM_003079.5(SMARCE1):c.552T>A (p.Asp184Glu)
|
rs1555605438
|
|
NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)
|
|
|
NM_003079.5(SMARCE1):c.572C>T (p.Thr191Ile)
|
|
|
NM_003079.5(SMARCE1):c.574G>A (p.Ala192Thr)
|
rs2143988542
|
|
NM_003079.5(SMARCE1):c.578C>T (p.Thr193Ile)
|
rs1319163552
|
|
NM_003079.5(SMARCE1):c.580G>T (p.Ala194Ser)
|
|
|
NM_003079.5(SMARCE1):c.584G>A (p.Arg195His)
|
rs1303849808
|
|
NM_003079.5(SMARCE1):c.58C>T (p.Pro20Ser)
|
|
|
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.622A>C (p.Ser208Arg)
|
rs2143988407
|
|
NM_003079.5(SMARCE1):c.627G>C (p.Glu209Asp)
|
|
|
NM_003079.5(SMARCE1):c.631G>T (p.Val211Leu)
|
rs2037102677
|
|
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.665C>G (p.Ala222Gly)
|
|
|
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
|
|
|
NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg)
|
rs2037102487
|
|
NM_003079.5(SMARCE1):c.685C>T (p.Arg229Trp)
|
|
|
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln)
|
rs768981981
|
|
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+6G>A
|
|
|
NM_003079.5(SMARCE1):c.715-3C>G
|
|
|
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.750A>C (p.Glu250Asp)
|
rs1555605350
|
|
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
|
|
|
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.767A>C (p.Lys256Thr)
|
rs542193901
|
|
NM_003079.5(SMARCE1):c.771G>C (p.Arg257Ser)
|
|
|
NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)
|
|
|
NM_003079.5(SMARCE1):c.774del (p.Lys258fs)
|
rs2037096557
|
|
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp)
|
rs2143986944
|
|
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.811A>G (p.Lys271Glu)
|
|
|
NM_003079.5(SMARCE1):c.815G>A (p.Arg272Lys)
|
|
|
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser)
|
rs2037096217
|
|
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.827T>C (p.Leu276Pro)
|
|
|
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His)
|
rs2144009228
|
|
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.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.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.862G>A (p.Glu288Lys)
|
rs2143985106
|
|
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.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.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.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.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.899A>G (p.Gln300Arg)
|
rs766568737
|
|
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.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.919G>A (p.Ala307Thr)
|
rs2037086571
|
|
NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)
|
|
|
NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)
|
|
|
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.938G>T (p.Arg313Leu)
|
rs201577008
|
|
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)
|
rs1444576393
|
|
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.971A>T (p.Gln324Leu)
|
rs1555605231
|
|
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.990_1004del (p.Glu330_Asp334del)
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rs2143984558
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NM_003079.5(SMARCE1):c.992A>G (p.Glu331Gly)
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NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)
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NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr)
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rs766656583
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NM_003079.5(SMARCE1):c.995A>G (p.Lys332Arg)
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NM_003079.5(SMARCE1):c.998A>G (p.Lys333Arg)
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rs948161312
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