ClinVar Miner

List of variants in gene TBCE studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.460+327A>C rs4659523 0.73876
NM_003193.5(TBCE):c.372-328T>C rs4659860 0.73403
NM_003193.5(TBCE):c.660+63A>G rs2291687 0.73351
NM_003193.5(TBCE):c.963+206T>C rs6429082 0.55140
NM_003193.5(TBCE):c.738-87C>T rs2055127 0.49530
NM_003193.5(TBCE):c.661-838G>A rs10802710 0.48894
NM_003193.5(TBCE):c.660+131A>G rs2291688 0.48558
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_003193.5(TBCE):c.185+22G>T rs17543709 0.09230
NM_003193.5(TBCE):c.963+130_963+131insC rs60243825 0.07366
NM_003193.5(TBCE):c.460+257T>G rs13374101 0.07118
NM_003193.5(TBCE):c.460+308C>T rs13373871 0.07033
NM_003193.5(TBCE):c.460+200C>G rs13373864 0.07020
NM_003193.5(TBCE):c.460+48T>G rs13374091 0.07018
NM_003193.5(TBCE):c.372-245C>T rs113609735 0.06994
NM_003193.5(TBCE):c.834-77T>G rs75683084 0.05712
NM_003193.5(TBCE):c.1270+307G>C rs138909608 0.05446
NM_003193.5(TBCE):c.738-174C>T rs80007970 0.04531
NM_003193.5(TBCE):c.963+126A>C rs55962679 0.04396
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_003193.5(TBCE):c.1116+24A>C rs6666184 0.04326
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_003193.5(TBCE):c.1117-251A>C rs113440842 0.02795
NM_003193.5(TBCE):c.1270+292G>A rs58301489 0.02571
NM_003193.5(TBCE):c.461-204G>A rs6681314 0.02492
NM_003193.5(TBCE):c.560+265A>G rs74151506 0.02477
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_003193.5(TBCE):c.560+231G>A rs74151504 0.02474
NM_003193.5(TBCE):c.560+232C>G rs74151505 0.02473
NM_003193.5(TBCE):c.561-262A>G rs61192556 0.02472
NM_003193.5(TBCE):c.737+240T>C rs56812242 0.02467
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_003193.5(TBCE):c.661-1524G>C rs61306464 0.02445
NM_003193.5(TBCE):c.661-1196C>T rs16832613 0.02443
NM_003193.5(TBCE):c.661-119G>A rs6687258 0.02435
NM_003193.5(TBCE):c.738-173G>A rs74151508 0.02411
NM_003193.5(TBCE):c.964-32C>T rs12131040 0.02161
NM_003193.5(TBCE):c.372-400A>G rs149588837 0.01643
NM_003193.5(TBCE):c.964-211G>A rs139544075 0.01137
NM_003193.5(TBCE):c.963+232C>T rs144338610 0.01111
NM_003193.5(TBCE):c.738-216A>G rs116568880 0.01030
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003193.5(TBCE):c.915G>C (p.Met305Ile) rs142462266 0.00067
NM_003193.5(TBCE):c.737+11C>T rs181223923 0.00064
NM_003193.5(TBCE):c.100+6C>T rs182896657 0.00063
NM_003193.5(TBCE):c.945C>T (p.Asn315=) rs138014826 0.00060
NM_003193.5(TBCE):c.833+8G>T rs372236046 0.00056
NM_003193.5(TBCE):c.835T>C (p.Leu279=) rs147049084 0.00033
NM_003193.5(TBCE):c.403A>C (p.Arg135=) rs141117231 0.00025
NM_003193.5(TBCE):c.708T>G (p.Leu236=) rs141498084 0.00025
NM_003193.5(TBCE):c.738-3C>T rs375709037 0.00024
NM_003193.5(TBCE):c.843A>G (p.Gln281=) rs190849182 0.00022
NM_003193.5(TBCE):c.1206G>A (p.Pro402=) rs369000163 0.00019
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00018
NM_003193.5(TBCE):c.1058C>T (p.Thr353Met) rs141668253 0.00016
NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) rs150187679 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003193.5(TBCE):c.100+12_100+17del rs759705733 0.00014
NM_003193.5(TBCE):c.460+14C>T rs143717755 0.00014
NM_003193.5(TBCE):c.738-12T>A rs370888603 0.00012
NM_003193.5(TBCE):c.909G>A (p.Thr303=) rs202063874 0.00012
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_003193.5(TBCE):c.560+8C>T rs376268347 0.00009
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) rs199943206 0.00008
NM_003193.5(TBCE):c.1059G>A (p.Thr353=) rs542526764 0.00006
NM_003193.5(TBCE):c.1135C>T (p.Arg379Trp) rs187162634 0.00006
NM_003193.5(TBCE):c.212G>A (p.Arg71His) rs775857834 0.00006
NM_003193.5(TBCE):c.501A>G (p.Ser167=) rs572878750 0.00006
NM_003193.5(TBCE):c.898+5A>T rs182294717 0.00006
NM_003193.5(TBCE):c.963+8C>G rs199555636 0.00006
NM_003193.5(TBCE):c.1215C>T (p.Asn405=) rs752517844 0.00004
NM_003193.5(TBCE):c.342C>T (p.Ile114=) rs752345424 0.00004
NM_003193.5(TBCE):c.964-11C>T rs565145666 0.00004
NM_003193.5(TBCE):c.1101G>A (p.Thr367=) rs750203834 0.00003
NM_003193.5(TBCE):c.1117-7A>G rs199775124 0.00003
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799 0.00003
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu) rs182268162 0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His) rs766386026 0.00003
NM_003193.5(TBCE):c.808C>T (p.Leu270=) rs200169233 0.00003
NM_003193.5(TBCE):c.1196A>G (p.His399Arg) rs762203329 0.00002
NM_003193.5(TBCE):c.1270+8C>T rs778443999 0.00002
NM_003193.5(TBCE):c.1270+9G>A rs748495327 0.00002
NM_003193.5(TBCE):c.606G>A (p.Thr202=) rs781690260 0.00002
NM_003193.5(TBCE):c.678G>A (p.Ala226=) rs757127216 0.00002
NM_003193.5(TBCE):c.908C>T (p.Thr303Met) rs759360868 0.00002
NM_003193.5(TBCE):c.917T>C (p.Phe306Ser) rs760902811 0.00002
NM_003193.5(TBCE):c.101-1G>C rs1188106799 0.00001
NM_003193.5(TBCE):c.1062G>A (p.Ala354=) rs769872412 0.00001
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) rs762683460 0.00001
NM_003193.5(TBCE):c.1148T>C (p.Leu383Pro) rs1430202343 0.00001
NM_003193.5(TBCE):c.1220T>C (p.Leu407Pro) rs373712859 0.00001
NM_003193.5(TBCE):c.1260C>T (p.Phe420=) rs1278346319 0.00001
NM_003193.5(TBCE):c.1270+7G>C rs769172119 0.00001
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys) rs199888401 0.00001
NM_003193.5(TBCE):c.244C>A (p.Leu82Ile) rs542328397 0.00001
NM_003193.5(TBCE):c.262C>T (p.Arg88Cys) rs200422130 0.00001
NM_003193.5(TBCE):c.285A>G (p.Pro95=) rs370008855 0.00001
NM_003193.5(TBCE):c.309T>G (p.Ile103Met) rs1162828786 0.00001
NM_003193.5(TBCE):c.35G>A (p.Arg12Gln) rs201164091 0.00001
NM_003193.5(TBCE):c.738-19A>G rs1385695725 0.00001
NM_003193.5(TBCE):c.765G>A (p.Lys255=) rs764892500 0.00001
NM_003193.5(TBCE):c.793A>G (p.Ile265Val) rs1319573852 0.00001
NM_003193.5(TBCE):c.83T>G (p.Val28Gly) rs1293879711 0.00001
NM_003193.5(TBCE):c.899-17C>T rs376744013 0.00001
GRCh37/hg19 1q42.3(chr1:235584727-235591045)x1
NC_000001.10:g.(?_235543365)_(235543474_?)del
NC_000001.10:g.(?_235543365)_(235564922_?)del
NC_000001.10:g.(?_235564798)_(235564922_?)del
NC_000001.10:g.(?_235564798)_(235564922_?)dup
NC_000001.10:g.(?_235564798)_(235590574_?)dup
NC_000001.10:g.(?_235577728)_(235582896_?)del
NC_000001.10:g.(?_235582768)_(235582896_?)del
NC_000001.10:g.(?_235582768)_(235594139_?)del
NC_000001.10:g.(?_235590435)_(235590574_?)del
NC_000001.10:g.(?_235590435)_(235590574_?)dup
NC_000001.10:g.(?_235590435)_(235597615_?)del
NC_000001.10:g.(?_235594000)_(235606246_?)del
NC_000001.10:g.(?_235597499)_(235597615_?)del
NC_000001.10:g.(?_235597771)_(235599084_?)del
NC_000001.10:g.(?_235602064)_(235602257_?)del
NC_000001.10:g.(?_235602064)_(235602257_?)dup
NM_003193.5(TBCE):c.-31-55dup rs36068852
NM_003193.5(TBCE):c.100+11_100+15del
NM_003193.5(TBCE):c.100+11_100+17del
NM_003193.5(TBCE):c.100+11_100+21del
NM_003193.5(TBCE):c.100+11_100+27del rs778119869
NM_003193.5(TBCE):c.100+11_100+29del
NM_003193.5(TBCE):c.100+11_100+31del
NM_003193.5(TBCE):c.100+13TG[11] rs10524346
NM_003193.5(TBCE):c.100+13TG[12] rs10524346
NM_003193.5(TBCE):c.100+13TG[13] rs10524346
NM_003193.5(TBCE):c.100+13TG[14] rs10524346
NM_003193.5(TBCE):c.100+13TG[15] rs10524346
NM_003193.5(TBCE):c.100+13TG[16] rs10524346
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003193.5(TBCE):c.100+13TG[18] rs10524346
NM_003193.5(TBCE):c.100+13TG[19] rs10524346
NM_003193.5(TBCE):c.100+13TG[20] rs10524346
NM_003193.5(TBCE):c.100+13TG[21] rs10524346
NM_003193.5(TBCE):c.100+13TG[22] rs10524346
NM_003193.5(TBCE):c.100+13TG[23] rs10524346
NM_003193.5(TBCE):c.100+13TG[24] rs10524346
NM_003193.5(TBCE):c.100+13TG[25] rs10524346
NM_003193.5(TBCE):c.100+13TG[27] rs10524346
NM_003193.5(TBCE):c.100+13TG[28] rs10524346
NM_003193.5(TBCE):c.100+15T>G rs886046149
NM_003193.5(TBCE):c.100+17T>G rs1256281643
NM_003193.5(TBCE):c.100+19T>G rs1294092411
NM_003193.5(TBCE):c.1002A>G (p.Leu334=)
NM_003193.5(TBCE):c.1004G>A (p.Arg335Gln)
NM_003193.5(TBCE):c.101-19G>T
NM_003193.5(TBCE):c.101-2A>G rs2102857548
NM_003193.5(TBCE):c.101-7C>T
NM_003193.5(TBCE):c.1014C>T (p.Ser338=)
NM_003193.5(TBCE):c.1018C>T (p.Leu340=)
NM_003193.5(TBCE):c.1020A>G (p.Leu340=)
NM_003193.5(TBCE):c.1025del (p.Asn342fs)
NM_003193.5(TBCE):c.1029C>G (p.Pro343=)
NM_003193.5(TBCE):c.1038del (p.Glu347fs) rs1681531187
NM_003193.5(TBCE):c.1041G>A (p.Glu347=)
NM_003193.5(TBCE):c.1042G>A (p.Asp348Asn)
NM_003193.5(TBCE):c.1049A>G (p.Glu350Gly)
NM_003193.5(TBCE):c.1056G>A (p.Glu352=)
NM_003193.5(TBCE):c.105C>T (p.Pro35=)
NM_003193.5(TBCE):c.1062G>T (p.Ala354=) rs769872412
NM_003193.5(TBCE):c.1063C>T (p.Arg355Ter)
NM_003193.5(TBCE):c.1065A>G (p.Arg355=)
NM_003193.5(TBCE):c.1065A>T (p.Arg355=)
NM_003193.5(TBCE):c.1077C>A (p.Ile359=)
NM_003193.5(TBCE):c.1077C>T (p.Ile359=)
NM_003193.5(TBCE):c.1078G>A (p.Ala360Thr)
NM_003193.5(TBCE):c.1083C>T (p.Ser361=)
NM_003193.5(TBCE):c.1090C>T (p.Gln364Ter)
NM_003193.5(TBCE):c.1093C>T (p.Leu365=)
NM_003193.5(TBCE):c.1100C>T (p.Thr367Met)
NM_003193.5(TBCE):c.1107C>A (p.Asn369Lys)
NM_003193.5(TBCE):c.1116+11G>C
NM_003193.5(TBCE):c.1116+122C>G rs113290115
NM_003193.5(TBCE):c.1116+15C>T
NM_003193.5(TBCE):c.1116+16A>G
NM_003193.5(TBCE):c.1116+18G>A
NM_003193.5(TBCE):c.1116+7A>G
NM_003193.5(TBCE):c.1116+8C>T
NM_003193.5(TBCE):c.1116G>A (p.Glu372=)
NM_003193.5(TBCE):c.1117-10A>G
NM_003193.5(TBCE):c.1117-126G>T rs3819974
NM_003193.5(TBCE):c.1117-208_1117-206dup rs10667524
NM_003193.5(TBCE):c.1117-4A>C
NM_003193.5(TBCE):c.1117-9T>C
NM_003193.5(TBCE):c.1117-9T>G rs1681627096
NM_003193.5(TBCE):c.1122C>T (p.Leu374=)
NM_003193.5(TBCE):c.1128G>A (p.Glu376=)
NM_003193.5(TBCE):c.1141G>A (p.Ala381Thr)
NM_003193.5(TBCE):c.1156C>T (p.Arg386Ter)
NM_003193.5(TBCE):c.1164T>C (p.Ala388=)
NM_003193.5(TBCE):c.1170A>G (p.Gly390=)
NM_003193.5(TBCE):c.1174G>A (p.Glu392Lys) rs1681632308
NM_003193.5(TBCE):c.1182A>G (p.Lys394=)
NM_003193.5(TBCE):c.1183C>T (p.Gln395Ter) rs1553339816
NM_003193.5(TBCE):c.1183del (p.Gln395fs)
NM_003193.5(TBCE):c.1189G>A (p.Gly397Ser) rs1681633971
NM_003193.5(TBCE):c.1194A>T (p.Gly398=)
NM_003193.5(TBCE):c.1203T>C (p.Asp401=)
NM_003193.5(TBCE):c.1214del (p.Asn405fs)
NM_003193.5(TBCE):c.1214dup (p.Asn405fs)
NM_003193.5(TBCE):c.1217G>C (p.Arg406Thr)
NM_003193.5(TBCE):c.1224C>T (p.Ser408=)
NM_003193.5(TBCE):c.1225G>T (p.Glu409Ter)
NM_003193.5(TBCE):c.1228G>T (p.Glu410Ter)
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) rs750744949
NM_003193.5(TBCE):c.1253del (p.Tyr418fs)
NM_003193.5(TBCE):c.1254C>T (p.Tyr418=)
NM_003193.5(TBCE):c.1257G>A (p.Gln419=)
NM_003193.5(TBCE):c.1270+14C>T rs2102929670
NM_003193.5(TBCE):c.1270+15A>G
NM_003193.5(TBCE):c.1270+167G>A rs2270538
NM_003193.5(TBCE):c.1270+53A>G
NM_003193.5(TBCE):c.1270+67G>A rs76365196
NM_003193.5(TBCE):c.135G>C (p.Glu45Asp)
NM_003193.5(TBCE):c.13T>C (p.Leu5=)
NM_003193.5(TBCE):c.146A>C (p.His49Pro)
NM_003193.5(TBCE):c.147T>C (p.His49=)
NM_003193.5(TBCE):c.150T>C (p.Asp50=)
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.157C>T (p.His53Tyr)
NM_003193.5(TBCE):c.159C>T (p.His53=) rs754279473
NM_003193.5(TBCE):c.165G>A (p.Gly55=)
NM_003193.5(TBCE):c.185+12T>G
NM_003193.5(TBCE):c.185+18A>G
NM_003193.5(TBCE):c.186-15G>A
NM_003193.5(TBCE):c.186-2A>G
NM_003193.5(TBCE):c.186-4C>T
NM_003193.5(TBCE):c.189C>T (p.His63=)
NM_003193.5(TBCE):c.190C>T (p.Pro64Ser) rs1437328895
NM_003193.5(TBCE):c.192G>A (p.Pro64=)
NM_003193.5(TBCE):c.192G>T (p.Pro64=)
NM_003193.5(TBCE):c.194C>T (p.Thr65Ile) rs144747353
NM_003193.5(TBCE):c.195del (p.Gly66fs)
NM_003193.5(TBCE):c.198A>G (p.Gly66=)
NM_003193.5(TBCE):c.201A>C (p.Gly67=)
NM_003193.5(TBCE):c.211C>T (p.Arg71Cys)
NM_003193.5(TBCE):c.215C>T (p.Pro72Leu)
NM_003193.5(TBCE):c.216G>A (p.Pro72=)
NM_003193.5(TBCE):c.216G>C (p.Pro72=)
NM_003193.5(TBCE):c.219C>T (p.Asn73=)
NM_003193.5(TBCE):c.21G>A (p.Ala7=)
NM_003193.5(TBCE):c.22del (p.Asp8fs)
NM_003193.5(TBCE):c.246T>G (p.Leu82=)
NM_003193.5(TBCE):c.251C>T (p.Ala84Val)
NM_003193.5(TBCE):c.252A>T (p.Ala84=)
NM_003193.5(TBCE):c.260A>C (p.Asn87Thr)
NM_003193.5(TBCE):c.282A>T (p.Gly94=)
NM_003193.5(TBCE):c.294T>C (p.Asp98=)
NM_003193.5(TBCE):c.306A>G (p.Gln102=)
NM_003193.5(TBCE):c.330T>C (p.Pro110=)
NM_003193.5(TBCE):c.334G>A (p.Glu112Lys) rs1558372993
NM_003193.5(TBCE):c.33T>C (p.Gly11=)
NM_003193.5(TBCE):c.351C>T (p.Asp117=)
NM_003193.5(TBCE):c.353C>G (p.Ser118Cys)
NM_003193.5(TBCE):c.367C>T (p.Gln123Ter)
NM_003193.5(TBCE):c.371+11T>A
NM_003193.5(TBCE):c.371+13_371+15dup
NM_003193.5(TBCE):c.371+15dup
NM_003193.5(TBCE):c.371+18C>T
NM_003193.5(TBCE):c.371+19G>A
NM_003193.5(TBCE):c.371+1G>A
NM_003193.5(TBCE):c.371+2T>A
NM_003193.5(TBCE):c.371+2_371+8dup
NM_003193.5(TBCE):c.372-10T>C rs931651997
NM_003193.5(TBCE):c.372-13G>C
NM_003193.5(TBCE):c.372-13G>T
NM_003193.5(TBCE):c.372-5T>C
NM_003193.5(TBCE):c.372-6A>G
NM_003193.5(TBCE):c.372-8dup
NM_003193.5(TBCE):c.373C>T (p.Gln125Ter)
NM_003193.5(TBCE):c.378G>C (p.Leu126=)
NM_003193.5(TBCE):c.384G>A (p.Lys128=)
NM_003193.5(TBCE):c.396T>C (p.Val132=)
NM_003193.5(TBCE):c.399T>C (p.Ser133=)
NM_003193.5(TBCE):c.417A>G (p.Val139=)
NM_003193.5(TBCE):c.425C>T (p.Ala142Val)
NM_003193.5(TBCE):c.433A>T (p.Lys145Ter)
NM_003193.5(TBCE):c.447T>C (p.Ala149=)
NM_003193.5(TBCE):c.450del (p.Ala151fs)
NM_003193.5(TBCE):c.454T>C (p.Cys152Arg)
NM_003193.5(TBCE):c.460+15G>A
NM_003193.5(TBCE):c.460+15G>C
NM_003193.5(TBCE):c.460+15G>T rs371500222
NM_003193.5(TBCE):c.460+18A>C
NM_003193.5(TBCE):c.460+20C>A rs2102891797
NM_003193.5(TBCE):c.460+3A>G
NM_003193.5(TBCE):c.461-10G>A
NM_003193.5(TBCE):c.461-11T>C
NM_003193.5(TBCE):c.461-12A>G
NM_003193.5(TBCE):c.461-12_461-11del
NM_003193.5(TBCE):c.461-18C>G
NM_003193.5(TBCE):c.462T>C (p.Asn154=)
NM_003193.5(TBCE):c.464T>A (p.Ile155Asn) rs780472451
NM_003193.5(TBCE):c.467G>A (p.Arg156Lys)
NM_003193.5(TBCE):c.470del (p.Lys157fs)
NM_003193.5(TBCE):c.483A>C (p.Ser161=)
NM_003193.5(TBCE):c.498A>G (p.Ser166=)
NM_003193.5(TBCE):c.500_501insCCATGATGAAAAACCTGTTGTCATC (p.Trp168fs)
NM_003193.5(TBCE):c.512T>A (p.Val171Glu)
NM_003193.5(TBCE):c.51T>C (p.Asn17=)
NM_003193.5(TBCE):c.540C>T (p.His180=) rs142804756
NM_003193.5(TBCE):c.555T>G (p.Asn185Lys)
NM_003193.5(TBCE):c.560+11T>G
NM_003193.5(TBCE):c.560+14_560+15del
NM_003193.5(TBCE):c.560+17del
NM_003193.5(TBCE):c.561-16T>G
NM_003193.5(TBCE):c.561-17C>A
NM_003193.5(TBCE):c.561-248G>C rs16832610
NM_003193.5(TBCE):c.567T>C (p.Asn189=)
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr) rs150592371
NM_003193.5(TBCE):c.569A>T (p.Lys190Ile)
NM_003193.5(TBCE):c.58C>T (p.His20Tyr)
NM_003193.5(TBCE):c.591A>G (p.Ser197=)
NM_003193.5(TBCE):c.609T>C (p.Leu203=)
NM_003193.5(TBCE):c.615A>C (p.Val205=) rs778529540
NM_003193.5(TBCE):c.626T>G (p.Leu209Ter)
NM_003193.5(TBCE):c.629T>C (p.Val210Ala)
NM_003193.5(TBCE):c.630C>T (p.Val210=)
NM_003193.5(TBCE):c.633C>T (p.Leu211=)
NM_003193.5(TBCE):c.635A>G (p.Asn212Ser)
NM_003193.5(TBCE):c.636_639del (p.Asn212fs) rs1226347591
NM_003193.5(TBCE):c.650C>T (p.Thr217Met)
NM_003193.5(TBCE):c.651G>A (p.Thr217=)
NM_003193.5(TBCE):c.654G>A (p.Trp218Ter)
NM_003193.5(TBCE):c.660+13_660+16del
NM_003193.5(TBCE):c.660+14T>A
NM_003193.5(TBCE):c.660+16del rs758848178
NM_003193.5(TBCE):c.660+9_660+10del rs569925016
NM_003193.5(TBCE):c.660G>A (p.Glu220=)
NM_003193.5(TBCE):c.661-1170G>C
NM_003193.5(TBCE):c.661-1190T>C
NM_003193.5(TBCE):c.661-1226T>C
NM_003193.5(TBCE):c.661-1238C>T
NM_003193.5(TBCE):c.661-1251C>T
NM_003193.5(TBCE):c.661-1263del rs749077343
NM_003193.5(TBCE):c.661-1277del rs747061160
NM_003193.5(TBCE):c.661-1288dup rs200349334
NM_003193.5(TBCE):c.661-1330TAT[2] rs201999801
NM_003193.5(TBCE):c.661-15G>A
NM_003193.5(TBCE):c.661-16C>T
NM_003193.5(TBCE):c.661-17C>G
NM_003193.5(TBCE):c.661-20G>A
NM_003193.5(TBCE):c.661-267T>G rs12405889
NM_003193.5(TBCE):c.661-7C>T
NM_003193.5(TBCE):c.661-9C>G
NM_003193.5(TBCE):c.667C>G (p.Arg223Gly) rs75832955
NM_003193.5(TBCE):c.669G>C (p.Arg223=)
NM_003193.5(TBCE):c.66_67del (p.Val23fs) rs1572324681
NM_003193.5(TBCE):c.675C>T (p.Val225=)
NM_003193.5(TBCE):c.684C>T (p.Cys228=)
NM_003193.5(TBCE):c.687A>T (p.Pro229=)
NM_003193.5(TBCE):c.689del (p.Gly230fs)
NM_003193.5(TBCE):c.693G>A (p.Leu231=)
NM_003193.5(TBCE):c.700C>A (p.Leu234Ile)
NM_003193.5(TBCE):c.700del (p.Leu234fs)
NM_003193.5(TBCE):c.710A>C (p.Glu237Ala)
NM_003193.5(TBCE):c.732C>T (p.Ser244=)
NM_003193.5(TBCE):c.733G>T (p.Glu245Ter)
NM_003193.5(TBCE):c.737+14dup
NM_003193.5(TBCE):c.737+15_737+18del
NM_003193.5(TBCE):c.737+17T>G rs2102920332
NM_003193.5(TBCE):c.737+18A>T
NM_003193.5(TBCE):c.737+20A>C
NM_003193.5(TBCE):c.737+271_737+276dup rs113532290
NM_003193.5(TBCE):c.738-13A>G
NM_003193.5(TBCE):c.738-17T>A
NM_003193.5(TBCE):c.738-8C>T
NM_003193.5(TBCE):c.757_760del (p.Thr253fs)
NM_003193.5(TBCE):c.75T>C (p.Phe25=)
NM_003193.5(TBCE):c.764A>G (p.Lys255Arg) rs1681410284
NM_003193.5(TBCE):c.789A>G (p.Gln263=)
NM_003193.5(TBCE):c.795T>G (p.Ile265Met) rs2102922908
NM_003193.5(TBCE):c.813T>C (p.Tyr271=)
NM_003193.5(TBCE):c.813T>G (p.Tyr271Ter)
NM_003193.5(TBCE):c.819del (p.Ile273fs)
NM_003193.5(TBCE):c.822C>A (p.Ala274=) rs1681413232
NM_003193.5(TBCE):c.825C>G (p.His275Gln)
NM_003193.5(TBCE):c.833+11C>T
NM_003193.5(TBCE):c.833+12dup
NM_003193.5(TBCE):c.833+14A>G rs2102922984
NM_003193.5(TBCE):c.834-13T>C
NM_003193.5(TBCE):c.834-18G>A
NM_003193.5(TBCE):c.834-20T>C rs1681448670
NM_003193.5(TBCE):c.834-9G>A
NM_003193.5(TBCE):c.836T>G (p.Leu279Ter)
NM_003193.5(TBCE):c.837A>G (p.Leu279=) rs1572431121
NM_003193.5(TBCE):c.841C>T (p.Gln281Ter) rs752790319
NM_003193.5(TBCE):c.850C>G (p.Leu284Val)
NM_003193.5(TBCE):c.854C>T (p.Ser285Phe)
NM_003193.5(TBCE):c.879T>C (p.His293=)
NM_003193.5(TBCE):c.884C>T (p.Pro295Leu)
NM_003193.5(TBCE):c.885G>A (p.Pro295=)
NM_003193.5(TBCE):c.898+10A>T
NM_003193.5(TBCE):c.898+19G>T
NM_003193.5(TBCE):c.898+5A>G
NM_003193.5(TBCE):c.898+6T>C rs759799813
NM_003193.5(TBCE):c.899-10C>T
NM_003193.5(TBCE):c.899-12C>T
NM_003193.5(TBCE):c.899-12del
NM_003193.5(TBCE):c.899-17C>A
NM_003193.5(TBCE):c.899-2A>G rs1239200181
NM_003193.5(TBCE):c.899-7T>G
NM_003193.5(TBCE):c.908dup (p.Ser304fs)
NM_003193.5(TBCE):c.924del (p.Ser308_Leu309insTer) rs750781063
NM_003193.5(TBCE):c.930G>A (p.Lys310=)
NM_003193.5(TBCE):c.93C>G (p.Pro31=)
NM_003193.5(TBCE):c.93C>T (p.Pro31=)
NM_003193.5(TBCE):c.954G>A (p.Gln318=)
NM_003193.5(TBCE):c.961C>T (p.Gln321Ter)
NM_003193.5(TBCE):c.963+13C>A
NM_003193.5(TBCE):c.963+13C>G
NM_003193.5(TBCE):c.963+13C>T
NM_003193.5(TBCE):c.963+14G>A
NM_003193.5(TBCE):c.963+19A>G
NM_003193.5(TBCE):c.963+285C>T rs6658187
NM_003193.5(TBCE):c.964-192AAAAC[3] rs202162200
NM_003193.5(TBCE):c.964-47G>A rs6697653
NM_003193.5(TBCE):c.964-7_964-6del
NM_003193.5(TBCE):c.965G>C (p.Trp322Ser)
NM_003193.5(TBCE):c.969G>A (p.Ser323=)
NM_003193.5(TBCE):c.972T>C (p.Phe324=)
NM_003193.5(TBCE):c.978T>C (p.Asn326=)
NM_003193.5(TBCE):c.984A>G (p.Leu328=)
NM_003193.5(TBCE):c.990G>A (p.Lys330=)
NM_003193.5(TBCE):c.996A>C (p.Pro332=)

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