ClinVar Miner

List of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 452
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.487-14G>A rs189771133 0.00080
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) rs149990643 0.00040
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val) rs140896339 0.00019
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His) rs201229787 0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001122955.4(BSCL2):c.1234+11T>A rs369813738 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu) rs1473465067 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) rs141377075 0.00007
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) rs144774892 0.00006
NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro) rs757846034 0.00005
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys) rs760470794 0.00005
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) rs147902831 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys) rs746973203 0.00004
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) rs777598096 0.00004
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) rs375554369 0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) rs767104988 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=) rs142016433 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) rs780533531 0.00003
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val) rs369511412 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) rs778931376 0.00002
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser) rs377310581 0.00002
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) rs138515091 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.404+10G>A rs992580580 0.00002
NM_001122955.4(BSCL2):c.404+15C>G rs200598473 0.00002
NM_001122955.4(BSCL2):c.405-20C>T rs778111224 0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) rs780093151 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu) rs773548699 0.00002
NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val) rs759642646 0.00002
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala) rs1291966839 0.00002
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) rs1339749955 0.00002
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His) rs763884653 0.00002
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys) rs759231362 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) rs779199750 0.00001
NM_001122955.4(BSCL2):c.1005+18C>A rs1474695153 0.00001
NM_001122955.4(BSCL2):c.1006-4A>C rs751265217 0.00001
NM_001122955.4(BSCL2):c.1016G>A (p.Arg339Gln) rs757850010 0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp) rs767820877 0.00001
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) rs769021944 0.00001
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) rs749917957 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala) rs776379711 0.00001
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) rs746737457 0.00001
NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu) rs771698323 0.00001
NM_001122955.4(BSCL2):c.1153+16C>T rs369798542 0.00001
NM_001122955.4(BSCL2):c.1153+7C>T rs758675404 0.00001
NM_001122955.4(BSCL2):c.1153+8G>A rs372839524 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1234+19C>T rs748453195 0.00001
NM_001122955.4(BSCL2):c.1234+6G>A rs762726296 0.00001
NM_001122955.4(BSCL2):c.1235-17T>C rs764000384 0.00001
NM_001122955.4(BSCL2):c.1235-4C>T rs775246044 0.00001
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=) rs768646836 0.00001
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) rs776343859 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4]) rs1383028616 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) rs376418772 0.00001
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) rs1060503382 0.00001
NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln) rs143017094 0.00001
NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu) rs764226928 0.00001
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala) rs2083513120 0.00001
NM_001122955.4(BSCL2):c.249C>T (p.Val83=) rs746722132 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) rs756668260 0.00001
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu) rs568354548 0.00001
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) rs545775232 0.00001
NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe) rs765023622 0.00001
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) rs200922424 0.00001
NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala) rs1471285147 0.00001
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 0.00001
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=) rs754001369 0.00001
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=) rs756135904 0.00001
NM_001122955.4(BSCL2):c.425C>T (p.Thr142Ile) rs750176844 0.00001
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=) rs267603078 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) rs766801709 0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) rs768780378 0.00001
NM_001122955.4(BSCL2):c.486+1G>A rs1011200048 0.00001
NM_001122955.4(BSCL2):c.487-9C>T rs768857448 0.00001
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser) rs878855171 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu) rs377609967 0.00001
NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe) rs1945403974 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs) rs1244155207 0.00001
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) rs571672404 0.00001
NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln) rs771534001 0.00001
NM_001122955.4(BSCL2):c.631-6C>T rs768294248 0.00001
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg) rs544020840 0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) rs950978890 0.00001
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) rs755623017 0.00001
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) rs773290851 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) rs774120735 0.00001
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) rs754629431 0.00001
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys) rs751664305 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.843C>T (p.His281=) rs1188344099 0.00001
NM_001122955.4(BSCL2):c.849C>T (p.His283=) rs911982128 0.00001
NM_001122955.4(BSCL2):c.864-6C>T rs1945308147 0.00001
NM_001122955.4(BSCL2):c.864-8T>C rs1373992341 0.00001
NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr) rs776986432 0.00001
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=) rs1346512157 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.940G>A (p.Val314Met) rs916916343 0.00001
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) rs1350933194 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NC_000011.10:g.(?_62702448)_(62702569_?)del
NC_000011.9:g.(?_62457819)_(62462203_?)dup
NM_001122955.4(BSCL2):c.1005+11_1005+16del
NM_001122955.4(BSCL2):c.1005+14A>G
NM_001122955.4(BSCL2):c.1005+15G>T
NM_001122955.4(BSCL2):c.1005+16G>A
NM_001122955.4(BSCL2):c.1005+19C>T
NM_001122955.4(BSCL2):c.1005+3C>G
NM_001122955.4(BSCL2):c.1005+3C>T rs372166360
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1005+8G>T rs864622631
NM_001122955.4(BSCL2):c.1005G>C (p.Gln335His)
NM_001122955.4(BSCL2):c.1006-1G>A rs777430457
NM_001122955.4(BSCL2):c.1006-20C>T
NM_001122955.4(BSCL2):c.1006-2A>C
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1014C>A (p.Ile338=)
NM_001122955.4(BSCL2):c.1014C>T (p.Ile338=)
NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr)
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His)
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs)
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala)
NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu) rs1945297760
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser) rs1440384464
NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu) rs202072835
NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn) rs1565143263
NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly) rs763070770
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr)
NM_001122955.4(BSCL2):c.1072+16G>C
NM_001122955.4(BSCL2):c.1072+3A>G
NM_001122955.4(BSCL2):c.1072+7dup rs1554982976
NM_001122955.4(BSCL2):c.1072G>C (p.Gly358Arg)
NM_001122955.4(BSCL2):c.1073-14C>T rs759489687
NM_001122955.4(BSCL2):c.1073-16C>G
NM_001122955.4(BSCL2):c.1073-16C>T
NM_001122955.4(BSCL2):c.1073-16del
NM_001122955.4(BSCL2):c.1073-8A>T rs2134690260
NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser) rs2134690233
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del)
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
NM_001122955.4(BSCL2):c.1089G>C (p.Glu363Asp)
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs) rs1554982914
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs) rs2134690008
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) rs2134689968
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His) rs778455259
NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr) rs778455259
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter) rs1945289474
NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr) rs1294077057
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) rs150914934
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)
NM_001122955.4(BSCL2):c.1153+12C>T
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)
NM_001122955.4(BSCL2):c.1154-13C>T
NM_001122955.4(BSCL2):c.1154-14C>A
NM_001122955.4(BSCL2):c.1154-1del rs1945285043
NM_001122955.4(BSCL2):c.1154-20C>T
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter) rs2134689565
NM_001122955.4(BSCL2):c.1161G>C (p.Gln387His)
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln)
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) rs769661232
NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys) rs1195655527
NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn) rs1945283531
NM_001122955.4(BSCL2):c.1180C>G (p.Pro394Ala)
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=) rs563653317
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu)
NM_001122955.4(BSCL2):c.1222G>C (p.Glu408Gln)
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)
NM_001122955.4(BSCL2):c.1234+19C>A
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) rs1945277080
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met) rs1266361176
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)
NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp) rs1554982825
NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser) rs1450251165
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) rs771054711
NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr)
NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)
NM_001122955.4(BSCL2):c.1294C>T (p.Pro432Ser)
NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu)
NM_001122955.4(BSCL2):c.1297G>A (p.Ala433Thr)
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro) rs199584887
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro) rs199787351
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) rs1945274691
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) rs876661160
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) rs1488410118
NM_001122955.4(BSCL2):c.1335_1340delinsGTTCAG (p.Ser445_Glu447delinsArgPheArg)
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
NM_001122955.4(BSCL2):c.1343C>T (p.Pro448Leu)
NM_001122955.4(BSCL2):c.1345G>A (p.Ala449Thr)
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala) rs779952369
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) rs1426557167
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs) rs779154593
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) rs2134688373
NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser) rs769048111
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile) rs1945272396
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) rs1590867827
NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr) rs775890636
NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)
NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser)
NM_001122955.4(BSCL2):c.206C>T (p.Pro69Leu)
NM_001122955.4(BSCL2):c.214C>A (p.Pro72Thr)
NM_001122955.4(BSCL2):c.219C>G (p.Ala73=)
NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro)
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) rs2083512739
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) rs770641122
NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val)
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) rs2134740784
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys)
NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro) rs780387759
NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu) rs780387759
NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp) rs1428360757
NM_001122955.4(BSCL2):c.270G>A (p.Arg90=)
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=) rs572867847
NM_001122955.4(BSCL2):c.276G>A (p.Leu92=)
NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu) rs2134740707
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) rs2083510633
NM_001122955.4(BSCL2):c.294C>T (p.Leu98=)
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) rs1590885150
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His) rs990055355
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) rs1590885075
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=)
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) rs370905417
NM_001122955.4(BSCL2):c.361A>G (p.Met121Val) rs2134740508
NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile) rs2134740499
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile) rs1308826157
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs)
NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr)
NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu) rs2083508973
NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu)
NM_001122955.4(BSCL2):c.400T>C (p.Tyr134His)
NM_001122955.4(BSCL2):c.404+11C>A
NM_001122955.4(BSCL2):c.404+11C>G rs375818964
NM_001122955.4(BSCL2):c.404+11C>T
NM_001122955.4(BSCL2):c.404+14_404+16del
NM_001122955.4(BSCL2):c.404+16T>C
NM_001122955.4(BSCL2):c.404+17A>G
NM_001122955.4(BSCL2):c.405-16del
NM_001122955.4(BSCL2):c.405-19C>G
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.405-7C>T rs1554985037
NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn) rs879253900
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) rs1590881712
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) rs1590881708
NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe)
NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr)
NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly) rs1003234218
NM_001122955.4(BSCL2):c.456T>C (p.Asn152=)
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) rs1590881633
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) rs772536764
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys) rs772536764
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=) rs2134729590
NM_001122955.4(BSCL2):c.486+7A>G rs1554984999
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001122955.4(BSCL2):c.487-19T>C
NM_001122955.4(BSCL2):c.487-1G>A
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.487-4G>A
NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys)
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) rs1590873161
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu) rs1325008761
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.507G>T (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe)
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His) rs377609967
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
NM_001122955.4(BSCL2):c.529G>C (p.Glu177Gln)
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.549G>A (p.Val183=)
NM_001122955.4(BSCL2):c.553C>T (p.Gln185Ter)
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val)
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer)
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=) rs1590872981
NM_001122955.4(BSCL2):c.618T>C (p.Thr206=)
NM_001122955.4(BSCL2):c.630+12_630+14del rs1045195404
NM_001122955.4(BSCL2):c.630+15C>G
NM_001122955.4(BSCL2):c.630+4A>G
NM_001122955.4(BSCL2):c.630+5G>T rs906321138
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.630G>C (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.630G>T (p.Ser210=)
NM_001122955.4(BSCL2):c.631-13C>T
NM_001122955.4(BSCL2):c.631-14C>T
NM_001122955.4(BSCL2):c.631-5G>A
NM_001122955.4(BSCL2):c.631-6C>A rs768294248
NM_001122955.4(BSCL2):c.631-6C>G rs768294248
NM_001122955.4(BSCL2):c.631-7C>A rs1945347921
NM_001122955.4(BSCL2):c.631-9C>G
NM_001122955.4(BSCL2):c.631-9C>T rs1245552202
NM_001122955.4(BSCL2):c.633G>A (p.Val211=)
NM_001122955.4(BSCL2):c.633G>T (p.Val211=)
NM_001122955.4(BSCL2):c.635T>C (p.Met212Thr)
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His)
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile)
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=) rs2134696441
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=) rs2134696423
NM_001122955.4(BSCL2):c.679G>T (p.Val227Phe) rs1565144788
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del) rs1131691748
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
NM_001122955.4(BSCL2):c.711A>C (p.Ala237=)
NM_001122955.4(BSCL2):c.735G>A (p.Val245=)
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His) rs1945345474
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)
NM_001122955.4(BSCL2):c.759G>A (p.Glu253=)
NM_001122955.4(BSCL2):c.765+16G>A rs183210574
NM_001122955.4(BSCL2):c.765+7G>C
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) rs774120735
NM_001122955.4(BSCL2):c.766-10C>G rs367716875
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) rs746544677
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
NM_001122955.4(BSCL2):c.790A>G (p.Ile264Val)
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del)
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=) rs1590870663
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) rs763884653
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn) rs2134695330
NM_001122955.4(BSCL2):c.813C>T (p.Ile271=)
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)
NM_001122955.4(BSCL2):c.819G>A (p.Leu273=)
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser)
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu) rs142608646
NM_001122955.4(BSCL2):c.837C>T (p.Arg279=)
NM_001122955.4(BSCL2):c.849C>G (p.His283Gln) rs911982128
NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala) rs749862649
NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe) rs1945335146
NM_001122955.4(BSCL2):c.863+10del rs2134695116
NM_001122955.4(BSCL2):c.863+14T>C
NM_001122955.4(BSCL2):c.864-13C>A
NM_001122955.4(BSCL2):c.864-16C>G
NM_001122955.4(BSCL2):c.864-9del
NM_001122955.4(BSCL2):c.873A>G (p.Leu291=)
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=)
NM_001122955.4(BSCL2):c.882C>G (p.Phe294Leu) rs786204131
NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr) rs935812889
NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr)
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
NM_001122955.4(BSCL2):c.897C>G (p.Ala299=)
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=) rs2134692099
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=) rs1590869477
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala)
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile) rs758460754
NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile)
NM_001122955.4(BSCL2):c.928C>G (p.Leu310Val)
NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe)
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn)
NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr)
NM_001122955.4(BSCL2):c.940G>C (p.Val314Leu)
NM_001122955.4(BSCL2):c.946T>C (p.Phe316Leu)
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys) rs1470975752
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) rs1158119987
NM_001122955.4(BSCL2):c.963G>A (p.Trp321Ter)
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) rs367783346
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala) rs1945304059
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser) rs760106114
NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys) rs760106114
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001122955.4(BSCL2):c.983C>T (p.Pro328Leu)
NM_001122955.4(BSCL2):c.984C>G (p.Pro328=)
NM_001122955.4(BSCL2):c.986G>T (p.Arg329Leu)

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