Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.53234897_53235077del	CA2499226779	IQSEC2	c.3770_3950del (p.Phe1257SerfsTer?) c.1453+708_1453+888del c.962+708_962+888del c.316+1247_316+1427del (n.316+1247_316+1427del) c.514+1247_514+1427del (n.514+1247_514+1427del) c.96_276del (n.96_276del) c.3611_3791del (p.Phe1204SerfsTer?) c.3581_3761del (p.Phe1194SerfsTer?) c.3707_3887del (p.Phe1236SerfsTer?) c.2996_3176del (p.Phe999SerfsTer?) c.3597+708_3597+888del (n.3597+708_3597+888del) c.3547+1247_3547+1427del (n.3547+1247_3547+1427del) c.2933_3113del (p.Phe978SerfsTer?) c.2900_3080del (p.Phe967SerfsTer?) c.3113_3293del (p.Phe1038SerfsTer?)	ClinVar dbSNP
X	g.53234961_53235025del	CA2695234289	IQSEC2	c.3828_3892del (p.Thr1278SerfsTer4) c.1453+766_1453+830del c.962+766_962+830del c.316+1305_316+1369del (n.316+1305_316+1369del) c.514+1305_514+1369del (n.514+1305_514+1369del) c.154_218del (n.154_218del) c.3669_3733del (p.Thr1225SerfsTer4) c.3639_3703del (p.Thr1215SerfsTer4) c.3765_3829del (p.Thr1257SerfsTer4) c.3054_3118del (p.Thr1020SerfsTer4) c.3597+766_3597+830del (n.3597+766_3597+830del) c.3547+1305_3547+1369del (n.3547+1305_3547+1369del) c.2991_3055del (p.Thr999SerfsTer4) c.2958_3022del (p.Thr988SerfsTer4) c.3171_3235del (p.Thr1059SerfsTer4)
X	g.53235000G>A	CA413141461	IQSEC2	c.3845C>T (p.Ser1282Phe) c.1453+783C>T c.962+783C>T c.316+1322C>T (n.316+1322C>T) c.514+1322C>T (n.514+1322C>T) c.171C>T (n.171C>T) c.3686C>T (p.Ser1229Phe) c.3656C>T (p.Ser1219Phe) c.3782C>T (p.Ser1261Phe) c.3071C>T (p.Ser1024Phe) c.3597+783C>T (n.3597+783C>T) c.3547+1322C>T (n.3547+1322C>T) c.3008C>T (p.Ser1003Phe) c.2975C>T (p.Ser992Phe) c.3188C>T (p.Ser1063Phe)
X	g.53235000G>C	CA413141463	IQSEC2	c.3845C>G (p.Ser1282Cys) c.1453+783C>G c.962+783C>G c.316+1322C>G (n.316+1322C>G) c.514+1322C>G (n.514+1322C>G) c.171C>G (n.171C>G) c.3686C>G (p.Ser1229Cys) c.3656C>G (p.Ser1219Cys) c.3782C>G (p.Ser1261Cys) c.3071C>G (p.Ser1024Cys) c.3597+783C>G (n.3597+783C>G) c.3547+1322C>G (n.3547+1322C>G) c.3008C>G (p.Ser1003Cys) c.2975C>G (p.Ser992Cys) c.3188C>G (p.Ser1063Cys)	dbSNP
X	g.53235000G=	CA2429770666	IQSEC2	c.3845C= (p.Ser1282=) c.1453+783C= c.962+783C= c.316+1322C= (n.316+1322C=) c.514+1322C= (n.514+1322C=) c.171C= (n.171C=) c.3686C= (p.Ser1229=) c.3656C= (p.Ser1219=) c.3782C= (p.Ser1261=) c.3071C= (p.Ser1024=) c.3597+783C= (n.3597+783C=) c.3547+1322C= (n.3547+1322C=) c.3008C= (p.Ser1003=) c.2975C= (p.Ser992=) c.3188C= (p.Ser1063=)
X	g.53235000G>T	CA413141465	IQSEC2	c.3845C>A (p.Ser1282Tyr) c.1453+783C>A c.962+783C>A c.316+1322C>A (n.316+1322C>A) c.514+1322C>A (n.514+1322C>A) c.171C>A (n.171C>A) c.3686C>A (p.Ser1229Tyr) c.3656C>A (p.Ser1219Tyr) c.3782C>A (p.Ser1261Tyr) c.3071C>A (p.Ser1024Tyr) c.3597+783C>A (n.3597+783C>A) c.3547+1322C>A (n.3547+1322C>A) c.3008C>A (p.Ser1003Tyr) c.2975C>A (p.Ser992Tyr) c.3188C>A (p.Ser1063Tyr)
X	g.53235001A>C	CA413141470	IQSEC2	c.3844T>G (p.Ser1282Ala) c.1453+782T>G c.962+782T>G c.316+1321T>G (n.316+1321T>G) c.514+1321T>G (n.514+1321T>G) c.170T>G (n.170T>G) c.3685T>G (p.Ser1229Ala) c.3655T>G (p.Ser1219Ala) c.3781T>G (p.Ser1261Ala) c.3070T>G (p.Ser1024Ala) c.3597+782T>G (n.3597+782T>G) c.3547+1321T>G (n.3547+1321T>G) c.3007T>G (p.Ser1003Ala) c.2974T>G (p.Ser992Ala) c.3187T>G (p.Ser1063Ala)
X	g.53235001A>G	CA413141473	IQSEC2	c.3844T>C (p.Ser1282Pro) c.1453+782T>C c.962+782T>C c.316+1321T>C (n.316+1321T>C) c.514+1321T>C (n.514+1321T>C) c.170T>C (n.170T>C) c.3685T>C (p.Ser1229Pro) c.3655T>C (p.Ser1219Pro) c.3781T>C (p.Ser1261Pro) c.3070T>C (p.Ser1024Pro) c.3597+782T>C (n.3597+782T>C) c.3547+1321T>C (n.3547+1321T>C) c.3007T>C (p.Ser1003Pro) c.2974T>C (p.Ser992Pro) c.3187T>C (p.Ser1063Pro)
X	g.53235001A>T	CA413141475	IQSEC2	c.3844T>A (p.Ser1282Thr) c.1453+782T>A c.962+782T>A c.316+1321T>A (n.316+1321T>A) c.514+1321T>A (n.514+1321T>A) c.170T>A (n.170T>A) c.3685T>A (p.Ser1229Thr) c.3655T>A (p.Ser1219Thr) c.3781T>A (p.Ser1261Thr) c.3070T>A (p.Ser1024Thr) c.3597+782T>A (n.3597+782T>A) c.3547+1321T>A (n.3547+1321T>A) c.3007T>A (p.Ser1003Thr) c.2974T>A (p.Ser992Thr) c.3187T>A (p.Ser1063Thr)
X	g.53235002G>A	CA516673757	IQSEC2	c.3843C>T (p.Ala1281=) c.1453+781C>T c.962+781C>T c.316+1320C>T (n.316+1320C>T) c.514+1320C>T (n.514+1320C>T) c.169C>T (n.169C>T) c.3684C>T (p.Ala1228=) c.3654C>T (p.Ala1218=) c.3780C>T (p.Ala1260=) c.3069C>T (p.Ala1023=) c.3597+781C>T (n.3597+781C>T) c.3547+1320C>T (n.3547+1320C>T) c.3006C>T (p.Ala1002=) c.2973C>T (p.Ala991=) c.3186C>T (p.Ala1062=)
X	g.53235002G>C	CA516673758	IQSEC2	c.3843C>G (p.Ala1281=) c.1453+781C>G c.962+781C>G c.316+1320C>G (n.316+1320C>G) c.514+1320C>G (n.514+1320C>G) c.169C>G (n.169C>G) c.3684C>G (p.Ala1228=) c.3654C>G (p.Ala1218=) c.3780C>G (p.Ala1260=) c.3069C>G (p.Ala1023=) c.3597+781C>G (n.3597+781C>G) c.3547+1320C>G (n.3547+1320C>G) c.3006C>G (p.Ala1002=) c.2973C>G (p.Ala991=) c.3186C>G (p.Ala1062=)
X	g.53235002G>T	CA516673759	IQSEC2	c.3843C>A (p.Ala1281=) c.1453+781C>A c.962+781C>A c.316+1320C>A (n.316+1320C>A) c.514+1320C>A (n.514+1320C>A) c.169C>A (n.169C>A) c.3684C>A (p.Ala1228=) c.3654C>A (p.Ala1218=) c.3780C>A (p.Ala1260=) c.3069C>A (p.Ala1023=) c.3597+781C>A (n.3597+781C>A) c.3547+1320C>A (n.3547+1320C>A) c.3006C>A (p.Ala1002=) c.2973C>A (p.Ala991=) c.3186C>A (p.Ala1062=)
X	g.53235008_53235012del	CA2579614716	IQSEC2	c.3839_3843del (p.Gln1280LeufsTer22) c.1453+777_1453+781del c.962+777_962+781del c.316+1316_316+1320del (n.316+1316_316+1320del) c.514+1316_514+1320del (n.514+1316_514+1320del) c.165_169del (n.165_169del) c.3680_3684del (p.Gln1227LeufsTer22) c.3650_3654del (p.Gln1217LeufsTer22) c.3776_3780del (p.Gln1259LeufsTer22) c.3065_3069del (p.Gln1022LeufsTer22) c.3597+777_3597+781del (n.3597+777_3597+781del) c.3547+1316_3547+1320del (n.3547+1316_3547+1320del) c.3002_3006del (p.Gln1001LeufsTer22) c.2969_2973del (p.Gln990LeufsTer22) c.3182_3186del (p.Gln1061LeufsTer22)
X	g.53235003G>A	CA413141484	IQSEC2	c.3842C>T (p.Ala1281Val) c.1453+780C>T c.962+780C>T c.316+1319C>T (n.316+1319C>T) c.514+1319C>T (n.514+1319C>T) c.168C>T (n.168C>T) c.3683C>T (p.Ala1228Val) c.3653C>T (p.Ala1218Val) c.3779C>T (p.Ala1260Val) c.3068C>T (p.Ala1023Val) c.3597+780C>T (n.3597+780C>T) c.3547+1319C>T (n.3547+1319C>T) c.3005C>T (p.Ala1002Val) c.2972C>T (p.Ala991Val) c.3185C>T (p.Ala1062Val)	ClinVar dbSNP
X	g.53235003G>C	CA413141487	IQSEC2	c.3842C>G (p.Ala1281Gly) c.1453+780C>G c.962+780C>G c.316+1319C>G (n.316+1319C>G) c.514+1319C>G (n.514+1319C>G) c.168C>G (n.168C>G) c.3683C>G (p.Ala1228Gly) c.3653C>G (p.Ala1218Gly) c.3779C>G (p.Ala1260Gly) c.3068C>G (p.Ala1023Gly) c.3597+780C>G (n.3597+780C>G) c.3547+1319C>G (n.3547+1319C>G) c.3005C>G (p.Ala1002Gly) c.2972C>G (p.Ala991Gly) c.3185C>G (p.Ala1062Gly)
X	g.53235003G>T	CA413141481	IQSEC2	c.3842C>A (p.Ala1281Asp) c.1453+780C>A c.962+780C>A c.316+1319C>A (n.316+1319C>A) c.514+1319C>A (n.514+1319C>A) c.168C>A (n.168C>A) c.3683C>A (p.Ala1228Asp) c.3653C>A (p.Ala1218Asp) c.3779C>A (p.Ala1260Asp) c.3068C>A (p.Ala1023Asp) c.3597+780C>A (n.3597+780C>A) c.3547+1319C>A (n.3547+1319C>A) c.3005C>A (p.Ala1002Asp) c.2972C>A (p.Ala991Asp) c.3185C>A (p.Ala1062Asp)
X	g.53235004C>A	CA413141491	IQSEC2	c.3841G>T (p.Ala1281Ser) c.1453+779G>T c.962+779G>T c.316+1318G>T (n.316+1318G>T) c.514+1318G>T (n.514+1318G>T) c.167G>T (n.167G>T) c.3682G>T (p.Ala1228Ser) c.3652G>T (p.Ala1218Ser) c.3778G>T (p.Ala1260Ser) c.3067G>T (p.Ala1023Ser) c.3597+779G>T (n.3597+779G>T) c.3547+1318G>T (n.3547+1318G>T) c.3004G>T (p.Ala1002Ser) c.2971G>T (p.Ala991Ser) c.3184G>T (p.Ala1062Ser)	dbSNP
X	g.53235004C=	CA2429770667	IQSEC2	c.3841G= (p.Ala1281=) c.1453+779G= c.962+779G= c.316+1318G= (n.316+1318G=) c.514+1318G= (n.514+1318G=) c.167G= (n.167G=) c.3682G= (p.Ala1228=) c.3652G= (p.Ala1218=) c.3778G= (p.Ala1260=) c.3067G= (p.Ala1023=) c.3597+779G= (n.3597+779G=) c.3547+1318G= (n.3547+1318G=) c.3004G= (p.Ala1002=) c.2971G= (p.Ala991=) c.3184G= (p.Ala1062=)
X	g.53235004C>G	CA413141494	IQSEC2	c.3841G>C (p.Ala1281Pro) c.1453+779G>C c.962+779G>C c.316+1318G>C (n.316+1318G>C) c.514+1318G>C (n.514+1318G>C) c.167G>C (n.167G>C) c.3682G>C (p.Ala1228Pro) c.3652G>C (p.Ala1218Pro) c.3778G>C (p.Ala1260Pro) c.3067G>C (p.Ala1023Pro) c.3597+779G>C (n.3597+779G>C) c.3547+1318G>C (n.3547+1318G>C) c.3004G>C (p.Ala1002Pro) c.2971G>C (p.Ala991Pro) c.3184G>C (p.Ala1062Pro)	dbSNP
X	g.53235004C>T	CA413141498	IQSEC2	c.3841G>A (p.Ala1281Thr) c.1453+779G>A c.962+779G>A c.316+1318G>A (n.316+1318G>A) c.514+1318G>A (n.514+1318G>A) c.167G>A (n.167G>A) c.3682G>A (p.Ala1228Thr) c.3652G>A (p.Ala1218Thr) c.3778G>A (p.Ala1260Thr) c.3067G>A (p.Ala1023Thr) c.3597+779G>A (n.3597+779G>A) c.3547+1318G>A (n.3547+1318G>A) c.3004G>A (p.Ala1002Thr) c.2971G>A (p.Ala991Thr) c.3184G>A (p.Ala1062Thr)
X	g.53235005C>A	CA413141502	IQSEC2	c.3840G>T (p.Gln1280His) c.1453+778G>T c.962+778G>T c.316+1317G>T (n.316+1317G>T) c.514+1317G>T (n.514+1317G>T) c.166G>T (n.166G>T) c.3681G>T (p.Gln1227His) c.3651G>T (p.Gln1217His) c.3777G>T (p.Gln1259His) c.3066G>T (p.Gln1022His) c.3597+778G>T (n.3597+778G>T) c.3547+1317G>T (n.3547+1317G>T) c.3003G>T (p.Gln1001His) c.2970G>T (p.Gln990His) c.3183G>T (p.Gln1061His)
X	g.53235005C=	CA2429770668	IQSEC2	c.3840G= (p.Gln1280=) c.1453+778G= c.962+778G= c.316+1317G= (n.316+1317G=) c.514+1317G= (n.514+1317G=) c.166G= (n.166G=) c.3681G= (p.Gln1227=) c.3651G= (p.Gln1217=) c.3777G= (p.Gln1259=) c.3066G= (p.Gln1022=) c.3597+778G= (n.3597+778G=) c.3547+1317G= (n.3547+1317G=) c.3003G= (p.Gln1001=) c.2970G= (p.Gln990=) c.3183G= (p.Gln1061=)
X	g.53235005C>G	CA413141504	IQSEC2	c.3840G>C (p.Gln1280His) c.1453+778G>C c.962+778G>C c.316+1317G>C (n.316+1317G>C) c.514+1317G>C (n.514+1317G>C) c.166G>C (n.166G>C) c.3681G>C (p.Gln1227His) c.3651G>C (p.Gln1217His) c.3777G>C (p.Gln1259His) c.3066G>C (p.Gln1022His) c.3597+778G>C (n.3597+778G>C) c.3547+1317G>C (n.3547+1317G>C) c.3003G>C (p.Gln1001His) c.2970G>C (p.Gln990His) c.3183G>C (p.Gln1061His)
X	g.53235005C>T	CA516673766	IQSEC2	c.3840G>A (p.Gln1280=) c.1453+778G>A c.962+778G>A c.316+1317G>A (n.316+1317G>A) c.514+1317G>A (n.514+1317G>A) c.166G>A (n.166G>A) c.3681G>A (p.Gln1227=) c.3651G>A (p.Gln1217=) c.3777G>A (p.Gln1259=) c.3066G>A (p.Gln1022=) c.3597+778G>A (n.3597+778G>A) c.3547+1317G>A (n.3547+1317G>A) c.3003G>A (p.Gln1001=) c.2970G>A (p.Gln990=) c.3183G>A (p.Gln1061=)	dbSNP
X	g.53235006del	CA2820950202	IQSEC2	c.3839del (p.Gln1280ArgfsTer?) c.1453+777del c.962+777del c.316+1316del (n.316+1316del) c.514+1316del (n.514+1316del) c.165del (n.165del) c.3680del (p.Gln1227ArgfsTer?) c.3650del (p.Gln1217ArgfsTer?) c.3776del (p.Gln1259ArgfsTer?) c.3065del (p.Gln1022ArgfsTer?) c.3597+777del (n.3597+777del) c.3547+1316del (n.3547+1316del) c.3002del (p.Gln1001ArgfsTer?) c.2969del (p.Gln990ArgfsTer?) c.3182del (p.Gln1061ArgfsTer?)
X	g.53235006T>A	CA413141513	IQSEC2	c.3839A>T (p.Gln1280Leu) c.1453+777A>T c.962+777A>T c.316+1316A>T (n.316+1316A>T) c.514+1316A>T (n.514+1316A>T) c.165A>T (n.165A>T) c.3680A>T (p.Gln1227Leu) c.3650A>T (p.Gln1217Leu) c.3776A>T (p.Gln1259Leu) c.3065A>T (p.Gln1022Leu) c.3597+777A>T (n.3597+777A>T) c.3547+1316A>T (n.3547+1316A>T) c.3002A>T (p.Gln1001Leu) c.2969A>T (p.Gln990Leu) c.3182A>T (p.Gln1061Leu)
X	g.53235006T>C	CA413141511	IQSEC2	c.3839A>G (p.Gln1280Arg) c.1453+777A>G c.962+777A>G c.316+1316A>G (n.316+1316A>G) c.514+1316A>G (n.514+1316A>G) c.165A>G (n.165A>G) c.3680A>G (p.Gln1227Arg) c.3650A>G (p.Gln1217Arg) c.3776A>G (p.Gln1259Arg) c.3065A>G (p.Gln1022Arg) c.3597+777A>G (n.3597+777A>G) c.3547+1316A>G (n.3547+1316A>G) c.3002A>G (p.Gln1001Arg) c.2969A>G (p.Gln990Arg) c.3182A>G (p.Gln1061Arg)
X	g.53235006T>G	CA413141508	IQSEC2	c.3839A>C (p.Gln1280Pro) c.1453+777A>C c.962+777A>C c.316+1316A>C (n.316+1316A>C) c.514+1316A>C (n.514+1316A>C) c.165A>C (n.165A>C) c.3680A>C (p.Gln1227Pro) c.3650A>C (p.Gln1217Pro) c.3776A>C (p.Gln1259Pro) c.3065A>C (p.Gln1022Pro) c.3597+777A>C (n.3597+777A>C) c.3547+1316A>C (n.3547+1316A>C) c.3002A>C (p.Gln1001Pro) c.2969A>C (p.Gln990Pro) c.3182A>C (p.Gln1061Pro)
X	g.53235007G>A	CA413141517	IQSEC2	c.3838C>T (p.Gln1280Ter) c.1453+776C>T c.962+776C>T c.316+1315C>T (n.316+1315C>T) c.514+1315C>T (n.514+1315C>T) c.164C>T (n.164C>T) c.3679C>T (p.Gln1227Ter) c.3649C>T (p.Gln1217Ter) c.3775C>T (p.Gln1259Ter) c.3064C>T (p.Gln1022Ter) c.3597+776C>T (n.3597+776C>T) c.3547+1315C>T (n.3547+1315C>T) c.3001C>T (p.Gln1001Ter) c.2968C>T (p.Gln990Ter) c.3181C>T (p.Gln1061Ter)	ClinVar dbSNP
X	g.53235007G>C	CA413141519	IQSEC2	c.3838C>G (p.Gln1280Glu) c.1453+776C>G c.962+776C>G c.316+1315C>G (n.316+1315C>G) c.514+1315C>G (n.514+1315C>G) c.164C>G (n.164C>G) c.3679C>G (p.Gln1227Glu) c.3649C>G (p.Gln1217Glu) c.3775C>G (p.Gln1259Glu) c.3064C>G (p.Gln1022Glu) c.3597+776C>G (n.3597+776C>G) c.3547+1315C>G (n.3547+1315C>G) c.3001C>G (p.Gln1001Glu) c.2968C>G (p.Gln990Glu) c.3181C>G (p.Gln1061Glu)
X	g.53235007G=	CA2429770669	IQSEC2	c.3838C= (p.Gln1280=) c.1453+776C= c.962+776C= c.316+1315C= (n.316+1315C=) c.514+1315C= (n.514+1315C=) c.164C= (n.164C=) c.3679C= (p.Gln1227=) c.3649C= (p.Gln1217=) c.3775C= (p.Gln1259=) c.3064C= (p.Gln1022=) c.3597+776C= (n.3597+776C=) c.3547+1315C= (n.3547+1315C=) c.3001C= (p.Gln1001=) c.2968C= (p.Gln990=) c.3181C= (p.Gln1061=)
X	g.53235007G>T	CA413141522	IQSEC2	c.3838C>A (p.Gln1280Lys) c.1453+776C>A c.962+776C>A c.316+1315C>A (n.316+1315C>A) c.514+1315C>A (n.514+1315C>A) c.164C>A (n.164C>A) c.3679C>A (p.Gln1227Lys) c.3649C>A (p.Gln1217Lys) c.3775C>A (p.Gln1259Lys) c.3064C>A (p.Gln1022Lys) c.3597+776C>A (n.3597+776C>A) c.3547+1315C>A (n.3547+1315C>A) c.3001C>A (p.Gln1001Lys) c.2968C>A (p.Gln990Lys) c.3181C>A (p.Gln1061Lys)
X	g.53235008G>A	CA516673769	IQSEC2	c.3837C>T (p.Gly1279=) c.1453+775C>T c.962+775C>T c.316+1314C>T (n.316+1314C>T) c.514+1314C>T (n.514+1314C>T) c.163C>T (n.163C>T) c.3678C>T (p.Gly1226=) c.3648C>T (p.Gly1216=) c.3774C>T (p.Gly1258=) c.3063C>T (p.Gly1021=) c.3597+775C>T (n.3597+775C>T) c.3547+1314C>T (n.3547+1314C>T) c.3000C>T (p.Gly1000=) c.2967C>T (p.Gly989=) c.3180C>T (p.Gly1060=)
X	g.53235008G>C	CA516673770	IQSEC2	c.3837C>G (p.Gly1279=) c.1453+775C>G c.962+775C>G c.316+1314C>G (n.316+1314C>G) c.514+1314C>G (n.514+1314C>G) c.163C>G (n.163C>G) c.3678C>G (p.Gly1226=) c.3648C>G (p.Gly1216=) c.3774C>G (p.Gly1258=) c.3063C>G (p.Gly1021=) c.3597+775C>G (n.3597+775C>G) c.3547+1314C>G (n.3547+1314C>G) c.3000C>G (p.Gly1000=) c.2967C>G (p.Gly989=) c.3180C>G (p.Gly1060=)
X	g.53235008G>T	CA516673772	IQSEC2	c.3837C>A (p.Gly1279=) c.1453+775C>A c.962+775C>A c.316+1314C>A (n.316+1314C>A) c.514+1314C>A (n.514+1314C>A) c.163C>A (n.163C>A) c.3678C>A (p.Gly1226=) c.3648C>A (p.Gly1216=) c.3774C>A (p.Gly1258=) c.3063C>A (p.Gly1021=) c.3597+775C>A (n.3597+775C>A) c.3547+1314C>A (n.3547+1314C>A) c.3000C>A (p.Gly1000=) c.2967C>A (p.Gly989=) c.3180C>A (p.Gly1060=)	gnomAD v4
X	g.53235009C>A	CA413141527	IQSEC2	c.3836G>T (p.Gly1279Val) c.1453+774G>T c.962+774G>T c.316+1313G>T (n.316+1313G>T) c.514+1313G>T (n.514+1313G>T) c.162G>T (n.162G>T) c.3677G>T (p.Gly1226Val) c.3647G>T (p.Gly1216Val) c.3773G>T (p.Gly1258Val) c.3062G>T (p.Gly1021Val) c.3597+774G>T (n.3597+774G>T) c.3547+1313G>T (n.3547+1313G>T) c.2999G>T (p.Gly1000Val) c.2966G>T (p.Gly989Val) c.3179G>T (p.Gly1060Val)
X	g.53235009C>G	CA413141529	IQSEC2	c.3836G>C (p.Gly1279Ala) c.1453+774G>C c.962+774G>C c.316+1313G>C (n.316+1313G>C) c.514+1313G>C (n.514+1313G>C) c.162G>C (n.162G>C) c.3677G>C (p.Gly1226Ala) c.3647G>C (p.Gly1216Ala) c.3773G>C (p.Gly1258Ala) c.3062G>C (p.Gly1021Ala) c.3597+774G>C (n.3597+774G>C) c.3547+1313G>C (n.3547+1313G>C) c.2999G>C (p.Gly1000Ala) c.2966G>C (p.Gly989Ala) c.3179G>C (p.Gly1060Ala)
X	g.53235009C>T	CA413141531	IQSEC2	c.3836G>A (p.Gly1279Asp) c.1453+774G>A c.962+774G>A c.316+1313G>A (n.316+1313G>A) c.514+1313G>A (n.514+1313G>A) c.162G>A (n.162G>A) c.3677G>A (p.Gly1226Asp) c.3647G>A (p.Gly1216Asp) c.3773G>A (p.Gly1258Asp) c.3062G>A (p.Gly1021Asp) c.3597+774G>A (n.3597+774G>A) c.3547+1313G>A (n.3547+1313G>A) c.2999G>A (p.Gly1000Asp) c.2966G>A (p.Gly989Asp) c.3179G>A (p.Gly1060Asp)
X	g.53235010C>A	CA413141537	IQSEC2	c.3835G>T (p.Gly1279Cys) c.1453+773G>T c.962+773G>T c.316+1312G>T (n.316+1312G>T) c.514+1312G>T (n.514+1312G>T) c.161G>T (n.161G>T) c.3676G>T (p.Gly1226Cys) c.3646G>T (p.Gly1216Cys) c.3772G>T (p.Gly1258Cys) c.3061G>T (p.Gly1021Cys) c.3597+773G>T (n.3597+773G>T) c.3547+1312G>T (n.3547+1312G>T) c.2998G>T (p.Gly1000Cys) c.2965G>T (p.Gly989Cys) c.3178G>T (p.Gly1060Cys)
X	g.53235010C>G	CA413141542	IQSEC2	c.3835G>C (p.Gly1279Arg) c.1453+773G>C c.962+773G>C c.316+1312G>C (n.316+1312G>C) c.514+1312G>C (n.514+1312G>C) c.161G>C (n.161G>C) c.3676G>C (p.Gly1226Arg) c.3646G>C (p.Gly1216Arg) c.3772G>C (p.Gly1258Arg) c.3061G>C (p.Gly1021Arg) c.3597+773G>C (n.3597+773G>C) c.3547+1312G>C (n.3547+1312G>C) c.2998G>C (p.Gly1000Arg) c.2965G>C (p.Gly989Arg) c.3178G>C (p.Gly1060Arg)
X	g.53235010C>T	CA413141539	IQSEC2	c.3835G>A (p.Gly1279Ser) c.1453+773G>A c.962+773G>A c.316+1312G>A (n.316+1312G>A) c.514+1312G>A (n.514+1312G>A) c.161G>A (n.161G>A) c.3676G>A (p.Gly1226Ser) c.3646G>A (p.Gly1216Ser) c.3772G>A (p.Gly1258Ser) c.3061G>A (p.Gly1021Ser) c.3597+773G>A (n.3597+773G>A) c.3547+1312G>A (n.3547+1312G>A) c.2998G>A (p.Gly1000Ser) c.2965G>A (p.Gly989Ser) c.3178G>A (p.Gly1060Ser)	gnomAD v4
X	g.53235011T>A	CA516673776	IQSEC2	c.3834A>T (p.Thr1278=) c.1453+772A>T c.962+772A>T c.316+1311A>T (n.316+1311A>T) c.514+1311A>T (n.514+1311A>T) c.160A>T (n.160A>T) c.3675A>T (p.Thr1225=) c.3645A>T (p.Thr1215=) c.3771A>T (p.Thr1257=) c.3060A>T (p.Thr1020=) c.3597+772A>T (n.3597+772A>T) c.3547+1311A>T (n.3547+1311A>T) c.2997A>T (p.Thr999=) c.2964A>T (p.Thr988=) c.3177A>T (p.Thr1059=)
X	g.53235011T>C	CA516673777	IQSEC2	c.3834A>G (p.Thr1278=) c.1453+772A>G c.962+772A>G c.316+1311A>G (n.316+1311A>G) c.514+1311A>G (n.514+1311A>G) c.160A>G (n.160A>G) c.3675A>G (p.Thr1225=) c.3645A>G (p.Thr1215=) c.3771A>G (p.Thr1257=) c.3060A>G (p.Thr1020=) c.3597+772A>G (n.3597+772A>G) c.3547+1311A>G (n.3547+1311A>G) c.2997A>G (p.Thr999=) c.2964A>G (p.Thr988=) c.3177A>G (p.Thr1059=)	dbSNP
X	g.53235011T>G	CA516673778	IQSEC2	c.3834A>C (p.Thr1278=) c.1453+772A>C c.962+772A>C c.316+1311A>C (n.316+1311A>C) c.514+1311A>C (n.514+1311A>C) c.160A>C (n.160A>C) c.3675A>C (p.Thr1225=) c.3645A>C (p.Thr1215=) c.3771A>C (p.Thr1257=) c.3060A>C (p.Thr1020=) c.3597+772A>C (n.3597+772A>C) c.3547+1311A>C (n.3547+1311A>C) c.2997A>C (p.Thr999=) c.2964A>C (p.Thr988=) c.3177A>C (p.Thr1059=)
X	g.53235011T=	CA2429770670	IQSEC2	c.3834A= (p.Thr1278=) c.1453+772A= c.962+772A= c.316+1311A= (n.316+1311A=) c.514+1311A= (n.514+1311A=) c.160A= (n.160A=) c.3675A= (p.Thr1225=) c.3645A= (p.Thr1215=) c.3771A= (p.Thr1257=) c.3060A= (p.Thr1020=) c.3597+772A= (n.3597+772A=) c.3547+1311A= (n.3547+1311A=) c.2997A= (p.Thr999=) c.2964A= (p.Thr988=) c.3177A= (p.Thr1059=)
X	g.53235012G>A	CA413141546	IQSEC2	c.3833C>T (p.Thr1278Ile) c.1453+771C>T c.962+771C>T c.316+1310C>T (n.316+1310C>T) c.514+1310C>T (n.514+1310C>T) c.159C>T (n.159C>T) c.3674C>T (p.Thr1225Ile) c.3644C>T (p.Thr1215Ile) c.3770C>T (p.Thr1257Ile) c.3059C>T (p.Thr1020Ile) c.3597+771C>T (n.3597+771C>T) c.3547+1310C>T (n.3547+1310C>T) c.2996C>T (p.Thr999Ile) c.2963C>T (p.Thr988Ile) c.3176C>T (p.Thr1059Ile)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
X	g.53235012G>C	CA413141548	IQSEC2	c.3833C>G (p.Thr1278Arg) c.1453+771C>G c.962+771C>G c.316+1310C>G (n.316+1310C>G) c.514+1310C>G (n.514+1310C>G) c.159C>G (n.159C>G) c.3674C>G (p.Thr1225Arg) c.3644C>G (p.Thr1215Arg) c.3770C>G (p.Thr1257Arg) c.3059C>G (p.Thr1020Arg) c.3597+771C>G (n.3597+771C>G) c.3547+1310C>G (n.3547+1310C>G) c.2996C>G (p.Thr999Arg) c.2963C>G (p.Thr988Arg) c.3176C>G (p.Thr1059Arg)
X	g.53235012G>T	CA413141551	IQSEC2	c.3833C>A (p.Thr1278Lys) c.1453+771C>A c.962+771C>A c.316+1310C>A (n.316+1310C>A) c.514+1310C>A (n.514+1310C>A) c.159C>A (n.159C>A) c.3674C>A (p.Thr1225Lys) c.3644C>A (p.Thr1215Lys) c.3770C>A (p.Thr1257Lys) c.3059C>A (p.Thr1020Lys) c.3597+771C>A (n.3597+771C>A) c.3547+1310C>A (n.3547+1310C>A) c.2996C>A (p.Thr999Lys) c.2963C>A (p.Thr988Lys) c.3176C>A (p.Thr1059Lys)
X	g.53235013T>A	CA413141555	IQSEC2	c.3832A>T (p.Thr1278Ser) c.1453+770A>T c.962+770A>T c.316+1309A>T (n.316+1309A>T) c.514+1309A>T (n.514+1309A>T) c.158A>T (n.158A>T) c.3673A>T (p.Thr1225Ser) c.3643A>T (p.Thr1215Ser) c.3769A>T (p.Thr1257Ser) c.3058A>T (p.Thr1020Ser) c.3597+770A>T (n.3597+770A>T) c.3547+1309A>T (n.3547+1309A>T) c.2995A>T (p.Thr999Ser) c.2962A>T (p.Thr988Ser) c.3175A>T (p.Thr1059Ser)
X	g.53235013T>C	CA413141563	IQSEC2	c.3832A>G (p.Thr1278Ala) c.1453+770A>G c.962+770A>G c.316+1309A>G (n.316+1309A>G) c.514+1309A>G (n.514+1309A>G) c.158A>G (n.158A>G) c.3673A>G (p.Thr1225Ala) c.3643A>G (p.Thr1215Ala) c.3769A>G (p.Thr1257Ala) c.3058A>G (p.Thr1020Ala) c.3597+770A>G (n.3597+770A>G) c.3547+1309A>G (n.3547+1309A>G) c.2995A>G (p.Thr999Ala) c.2962A>G (p.Thr988Ala) c.3175A>G (p.Thr1059Ala)
X	g.53235013T>G	CA413141565	IQSEC2	c.3832A>C (p.Thr1278Pro) c.1453+770A>C c.962+770A>C c.316+1309A>C (n.316+1309A>C) c.514+1309A>C (n.514+1309A>C) c.158A>C (n.158A>C) c.3673A>C (p.Thr1225Pro) c.3643A>C (p.Thr1215Pro) c.3769A>C (p.Thr1257Pro) c.3058A>C (p.Thr1020Pro) c.3597+770A>C (n.3597+770A>C) c.3547+1309A>C (n.3547+1309A>C) c.2995A>C (p.Thr999Pro) c.2962A>C (p.Thr988Pro) c.3175A>C (p.Thr1059Pro)
X	g.53235014T>A	CA516673783	IQSEC2	c.3831A>T (p.Pro1277=) c.1453+769A>T c.962+769A>T c.316+1308A>T (n.316+1308A>T) c.514+1308A>T (n.514+1308A>T) c.157A>T (n.157A>T) c.3672A>T (p.Pro1224=) c.3642A>T (p.Pro1214=) c.3768A>T (p.Pro1256=) c.3057A>T (p.Pro1019=) c.3597+769A>T (n.3597+769A>T) c.3547+1308A>T (n.3547+1308A>T) c.2994A>T (p.Pro998=) c.2961A>T (p.Pro987=) c.3174A>T (p.Pro1058=)
X	g.53235014T>C	CA516673784	IQSEC2	c.3831A>G (p.Pro1277=) c.1453+769A>G c.962+769A>G c.316+1308A>G (n.316+1308A>G) c.514+1308A>G (n.514+1308A>G) c.157A>G (n.157A>G) c.3672A>G (p.Pro1224=) c.3642A>G (p.Pro1214=) c.3768A>G (p.Pro1256=) c.3057A>G (p.Pro1019=) c.3597+769A>G (n.3597+769A>G) c.3547+1308A>G (n.3547+1308A>G) c.2994A>G (p.Pro998=) c.2961A>G (p.Pro987=) c.3174A>G (p.Pro1058=)
X	g.53235014T>G	CA516673785	IQSEC2	c.3831A>C (p.Pro1277=) c.1453+769A>C c.962+769A>C c.316+1308A>C (n.316+1308A>C) c.514+1308A>C (n.514+1308A>C) c.157A>C (n.157A>C) c.3672A>C (p.Pro1224=) c.3642A>C (p.Pro1214=) c.3768A>C (p.Pro1256=) c.3057A>C (p.Pro1019=) c.3597+769A>C (n.3597+769A>C) c.3547+1308A>C (n.3547+1308A>C) c.2994A>C (p.Pro998=) c.2961A>C (p.Pro987=) c.3174A>C (p.Pro1058=)
X	g.53235015G>A	CA413141569	IQSEC2	c.3830C>T (p.Pro1277Leu) c.1453+768C>T c.962+768C>T c.316+1307C>T (n.316+1307C>T) c.514+1307C>T (n.514+1307C>T) c.156C>T (n.156C>T) c.3671C>T (p.Pro1224Leu) c.3641C>T (p.Pro1214Leu) c.3767C>T (p.Pro1256Leu) c.3056C>T (p.Pro1019Leu) c.3597+768C>T (n.3597+768C>T) c.3547+1307C>T (n.3547+1307C>T) c.2993C>T (p.Pro998Leu) c.2960C>T (p.Pro987Leu) c.3173C>T (p.Pro1058Leu)
X	g.53235015G>C	CA413141572	IQSEC2	c.3830C>G (p.Pro1277Arg) c.1453+768C>G c.962+768C>G c.316+1307C>G (n.316+1307C>G) c.514+1307C>G (n.514+1307C>G) c.156C>G (n.156C>G) c.3671C>G (p.Pro1224Arg) c.3641C>G (p.Pro1214Arg) c.3767C>G (p.Pro1256Arg) c.3056C>G (p.Pro1019Arg) c.3597+768C>G (n.3597+768C>G) c.3547+1307C>G (n.3547+1307C>G) c.2993C>G (p.Pro998Arg) c.2960C>G (p.Pro987Arg) c.3173C>G (p.Pro1058Arg)
X	g.53235015G>T	CA413141576	IQSEC2	c.3830C>A (p.Pro1277Gln) c.1453+768C>A c.962+768C>A c.316+1307C>A (n.316+1307C>A) c.514+1307C>A (n.514+1307C>A) c.156C>A (n.156C>A) c.3671C>A (p.Pro1224Gln) c.3641C>A (p.Pro1214Gln) c.3767C>A (p.Pro1256Gln) c.3056C>A (p.Pro1019Gln) c.3597+768C>A (n.3597+768C>A) c.3547+1307C>A (n.3547+1307C>A) c.2993C>A (p.Pro998Gln) c.2960C>A (p.Pro987Gln) c.3173C>A (p.Pro1058Gln)
X	g.53235016G>A	CA413141580	IQSEC2	c.3829C>T (p.Pro1277Ser) c.1453+767C>T c.962+767C>T c.316+1306C>T (n.316+1306C>T) c.514+1306C>T (n.514+1306C>T) c.155C>T (n.155C>T) c.3670C>T (p.Pro1224Ser) c.3640C>T (p.Pro1214Ser) c.3766C>T (p.Pro1256Ser) c.3055C>T (p.Pro1019Ser) c.3597+767C>T (n.3597+767C>T) c.3547+1306C>T (n.3547+1306C>T) c.2992C>T (p.Pro998Ser) c.2959C>T (p.Pro987Ser) c.3172C>T (p.Pro1058Ser)
X	g.53235016G>C	CA413141583	IQSEC2	c.3829C>G (p.Pro1277Ala) c.1453+767C>G c.962+767C>G c.316+1306C>G (n.316+1306C>G) c.514+1306C>G (n.514+1306C>G) c.155C>G (n.155C>G) c.3670C>G (p.Pro1224Ala) c.3640C>G (p.Pro1214Ala) c.3766C>G (p.Pro1256Ala) c.3055C>G (p.Pro1019Ala) c.3597+767C>G (n.3597+767C>G) c.3547+1306C>G (n.3547+1306C>G) c.2992C>G (p.Pro998Ala) c.2959C>G (p.Pro987Ala) c.3172C>G (p.Pro1058Ala)
X	g.53235016G>T	CA413141586	IQSEC2	c.3829C>A (p.Pro1277Thr) c.1453+767C>A c.962+767C>A c.316+1306C>A (n.316+1306C>A) c.514+1306C>A (n.514+1306C>A) c.155C>A (n.155C>A) c.3670C>A (p.Pro1224Thr) c.3640C>A (p.Pro1214Thr) c.3766C>A (p.Pro1256Thr) c.3055C>A (p.Pro1019Thr) c.3597+767C>A (n.3597+767C>A) c.3547+1306C>A (n.3547+1306C>A) c.2992C>A (p.Pro998Thr) c.2959C>A (p.Pro987Thr) c.3172C>A (p.Pro1058Thr)	ClinVar gnomAD v4
X	g.53235017C>A	CA516673791	IQSEC2	c.3828G>T (p.Pro1276=) c.1453+766G>T c.962+766G>T c.316+1305G>T (n.316+1305G>T) c.514+1305G>T (n.514+1305G>T) c.154G>T (n.154G>T) c.3669G>T (p.Pro1223=) c.3639G>T (p.Pro1213=) c.3765G>T (p.Pro1255=) c.3054G>T (p.Pro1018=) c.3597+766G>T (n.3597+766G>T) c.3547+1305G>T (n.3547+1305G>T) c.2991G>T (p.Pro997=) c.2958G>T (p.Pro986=) c.3171G>T (p.Pro1057=)	gnomAD v4
X	g.53235017C=	CA2429770671	IQSEC2	c.3828G= (p.Pro1276=) c.1453+766G= c.962+766G= c.316+1305G= (n.316+1305G=) c.514+1305G= (n.514+1305G=) c.154G= (n.154G=) c.3669G= (p.Pro1223=) c.3639G= (p.Pro1213=) c.3765G= (p.Pro1255=) c.3054G= (p.Pro1018=) c.3597+766G= (n.3597+766G=) c.3547+1305G= (n.3547+1305G=) c.2991G= (p.Pro997=) c.2958G= (p.Pro986=) c.3171G= (p.Pro1057=)
X	g.53235017C>G	CA516673792	IQSEC2	c.3828G>C (p.Pro1276=) c.1453+766G>C c.962+766G>C c.316+1305G>C (n.316+1305G>C) c.514+1305G>C (n.514+1305G>C) c.154G>C (n.154G>C) c.3669G>C (p.Pro1223=) c.3639G>C (p.Pro1213=) c.3765G>C (p.Pro1255=) c.3054G>C (p.Pro1018=) c.3597+766G>C (n.3597+766G>C) c.3547+1305G>C (n.3547+1305G>C) c.2991G>C (p.Pro997=) c.2958G>C (p.Pro986=) c.3171G>C (p.Pro1057=)
X	g.53235017C>T	CA10419781	IQSEC2	c.3828G>A (p.Pro1276=) c.1453+766G>A c.962+766G>A c.316+1305G>A (n.316+1305G>A) c.514+1305G>A (n.514+1305G>A) c.154G>A (n.154G>A) c.3669G>A (p.Pro1223=) c.3639G>A (p.Pro1213=) c.3765G>A (p.Pro1255=) c.3054G>A (p.Pro1018=) c.3597+766G>A (n.3597+766G>A) c.3547+1305G>A (n.3547+1305G>A) c.2991G>A (p.Pro997=) c.2958G>A (p.Pro986=) c.3171G>A (p.Pro1057=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235018G>A	CA413141598	IQSEC2	c.3827C>T (p.Pro1276Leu) c.1453+765C>T c.962+765C>T c.316+1304C>T (n.316+1304C>T) c.514+1304C>T (n.514+1304C>T) c.153C>T (n.153C>T) c.3668C>T (p.Pro1223Leu) c.3638C>T (p.Pro1213Leu) c.3764C>T (p.Pro1255Leu) c.3053C>T (p.Pro1018Leu) c.3597+765C>T (n.3597+765C>T) c.3547+1304C>T (n.3547+1304C>T) c.2990C>T (p.Pro997Leu) c.2957C>T (p.Pro986Leu) c.3170C>T (p.Pro1057Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235018G>C	CA413141595	IQSEC2	c.3827C>G (p.Pro1276Arg) c.1453+765C>G c.962+765C>G c.316+1304C>G (n.316+1304C>G) c.514+1304C>G (n.514+1304C>G) c.153C>G (n.153C>G) c.3668C>G (p.Pro1223Arg) c.3638C>G (p.Pro1213Arg) c.3764C>G (p.Pro1255Arg) c.3053C>G (p.Pro1018Arg) c.3597+765C>G (n.3597+765C>G) c.3547+1304C>G (n.3547+1304C>G) c.2990C>G (p.Pro997Arg) c.2957C>G (p.Pro986Arg) c.3170C>G (p.Pro1057Arg)
X	g.53235018G=	CA2429770672	IQSEC2	c.3827C= (p.Pro1276=) c.1453+765C= c.962+765C= c.316+1304C= (n.316+1304C=) c.514+1304C= (n.514+1304C=) c.153C= (n.153C=) c.3668C= (p.Pro1223=) c.3638C= (p.Pro1213=) c.3764C= (p.Pro1255=) c.3053C= (p.Pro1018=) c.3597+765C= (n.3597+765C=) c.3547+1304C= (n.3547+1304C=) c.2990C= (p.Pro997=) c.2957C= (p.Pro986=) c.3170C= (p.Pro1057=)
X	g.53235018G>T	CA413141601	IQSEC2	c.3827C>A (p.Pro1276Gln) c.1453+765C>A c.962+765C>A c.316+1304C>A (n.316+1304C>A) c.514+1304C>A (n.514+1304C>A) c.153C>A (n.153C>A) c.3668C>A (p.Pro1223Gln) c.3638C>A (p.Pro1213Gln) c.3764C>A (p.Pro1255Gln) c.3053C>A (p.Pro1018Gln) c.3597+765C>A (n.3597+765C>A) c.3547+1304C>A (n.3547+1304C>A) c.2990C>A (p.Pro997Gln) c.2957C>A (p.Pro986Gln) c.3170C>A (p.Pro1057Gln)	ClinVar dbSNP
X	g.53235019G>A	CA413141606	IQSEC2	c.3826C>T (p.Pro1276Ser) c.1453+764C>T c.962+764C>T c.316+1303C>T (n.316+1303C>T) c.514+1303C>T (n.514+1303C>T) c.152C>T (n.152C>T) c.3667C>T (p.Pro1223Ser) c.3637C>T (p.Pro1213Ser) c.3763C>T (p.Pro1255Ser) c.3052C>T (p.Pro1018Ser) c.3597+764C>T (n.3597+764C>T) c.3547+1303C>T (n.3547+1303C>T) c.2989C>T (p.Pro997Ser) c.2956C>T (p.Pro986Ser) c.3169C>T (p.Pro1057Ser)
X	g.53235019G>C	CA413141609	IQSEC2	c.3826C>G (p.Pro1276Ala) c.1453+764C>G c.962+764C>G c.316+1303C>G (n.316+1303C>G) c.514+1303C>G (n.514+1303C>G) c.152C>G (n.152C>G) c.3667C>G (p.Pro1223Ala) c.3637C>G (p.Pro1213Ala) c.3763C>G (p.Pro1255Ala) c.3052C>G (p.Pro1018Ala) c.3597+764C>G (n.3597+764C>G) c.3547+1303C>G (n.3547+1303C>G) c.2989C>G (p.Pro997Ala) c.2956C>G (p.Pro986Ala) c.3169C>G (p.Pro1057Ala)
X	g.53235019G>T	CA413141610	IQSEC2	c.3826C>A (p.Pro1276Thr) c.1453+764C>A c.962+764C>A c.316+1303C>A (n.316+1303C>A) c.514+1303C>A (n.514+1303C>A) c.152C>A (n.152C>A) c.3667C>A (p.Pro1223Thr) c.3637C>A (p.Pro1213Thr) c.3763C>A (p.Pro1255Thr) c.3052C>A (p.Pro1018Thr) c.3597+764C>A (n.3597+764C>A) c.3547+1303C>A (n.3547+1303C>A) c.2989C>A (p.Pro997Thr) c.2956C>A (p.Pro986Thr) c.3169C>A (p.Pro1057Thr)
X	g.53235020T>A	CA516673803	IQSEC2	c.3825A>T (p.Pro1275=) c.1453+763A>T c.962+763A>T c.316+1302A>T (n.316+1302A>T) c.514+1302A>T (n.514+1302A>T) c.151A>T (n.151A>T) c.3666A>T (p.Pro1222=) c.3636A>T (p.Pro1212=) c.3762A>T (p.Pro1254=) c.3051A>T (p.Pro1017=) c.3597+763A>T (n.3597+763A>T) c.3547+1302A>T (n.3547+1302A>T) c.2988A>T (p.Pro996=) c.2955A>T (p.Pro985=) c.3168A>T (p.Pro1056=)
X	g.53235020T>C	CA516673799	IQSEC2	c.3825A>G (p.Pro1275=) c.1453+763A>G c.962+763A>G c.316+1302A>G (n.316+1302A>G) c.514+1302A>G (n.514+1302A>G) c.151A>G (n.151A>G) c.3666A>G (p.Pro1222=) c.3636A>G (p.Pro1212=) c.3762A>G (p.Pro1254=) c.3051A>G (p.Pro1017=) c.3597+763A>G (n.3597+763A>G) c.3547+1302A>G (n.3547+1302A>G) c.2988A>G (p.Pro996=) c.2955A>G (p.Pro985=) c.3168A>G (p.Pro1056=)	ClinVar dbSNP
X	g.53235020T>G	CA516673801	IQSEC2	c.3825A>C (p.Pro1275=) c.1453+763A>C c.962+763A>C c.316+1302A>C (n.316+1302A>C) c.514+1302A>C (n.514+1302A>C) c.151A>C (n.151A>C) c.3666A>C (p.Pro1222=) c.3636A>C (p.Pro1212=) c.3762A>C (p.Pro1254=) c.3051A>C (p.Pro1017=) c.3597+763A>C (n.3597+763A>C) c.3547+1302A>C (n.3547+1302A>C) c.2988A>C (p.Pro996=) c.2955A>C (p.Pro985=) c.3168A>C (p.Pro1056=)
X	g.53235020T=	CA2429770673	IQSEC2	c.3825A= (p.Pro1275=) c.1453+763A= c.962+763A= c.316+1302A= (n.316+1302A=) c.514+1302A= (n.514+1302A=) c.151A= (n.151A=) c.3666A= (p.Pro1222=) c.3636A= (p.Pro1212=) c.3762A= (p.Pro1254=) c.3051A= (p.Pro1017=) c.3597+763A= (n.3597+763A=) c.3547+1302A= (n.3547+1302A=) c.2988A= (p.Pro996=) c.2955A= (p.Pro985=) c.3168A= (p.Pro1056=)
X	g.53235021G>A	CA413141616	IQSEC2	c.3824C>T (p.Pro1275Leu) c.1453+762C>T c.962+762C>T c.316+1301C>T (n.316+1301C>T) c.514+1301C>T (n.514+1301C>T) c.150C>T (n.150C>T) c.3665C>T (p.Pro1222Leu) c.3635C>T (p.Pro1212Leu) c.3761C>T (p.Pro1254Leu) c.3050C>T (p.Pro1017Leu) c.3597+762C>T (n.3597+762C>T) c.3547+1301C>T (n.3547+1301C>T) c.2987C>T (p.Pro996Leu) c.2954C>T (p.Pro985Leu) c.3167C>T (p.Pro1056Leu)	ClinVar dbSNP
X	g.53235021G>C	CA413141619	IQSEC2	c.3824C>G (p.Pro1275Arg) c.1453+762C>G c.962+762C>G c.316+1301C>G (n.316+1301C>G) c.514+1301C>G (n.514+1301C>G) c.150C>G (n.150C>G) c.3665C>G (p.Pro1222Arg) c.3635C>G (p.Pro1212Arg) c.3761C>G (p.Pro1254Arg) c.3050C>G (p.Pro1017Arg) c.3597+762C>G (n.3597+762C>G) c.3547+1301C>G (n.3547+1301C>G) c.2987C>G (p.Pro996Arg) c.2954C>G (p.Pro985Arg) c.3167C>G (p.Pro1056Arg)
X	g.53235021G=	CA2429770674	IQSEC2	c.3824C= (p.Pro1275=) c.1453+762C= c.962+762C= c.316+1301C= (n.316+1301C=) c.514+1301C= (n.514+1301C=) c.150C= (n.150C=) c.3665C= (p.Pro1222=) c.3635C= (p.Pro1212=) c.3761C= (p.Pro1254=) c.3050C= (p.Pro1017=) c.3597+762C= (n.3597+762C=) c.3547+1301C= (n.3547+1301C=) c.2987C= (p.Pro996=) c.2954C= (p.Pro985=) c.3167C= (p.Pro1056=)
X	g.53235021G>T	CA413141621	IQSEC2	c.3824C>A (p.Pro1275Gln) c.1453+762C>A c.962+762C>A c.316+1301C>A (n.316+1301C>A) c.514+1301C>A (n.514+1301C>A) c.150C>A (n.150C>A) c.3665C>A (p.Pro1222Gln) c.3635C>A (p.Pro1212Gln) c.3761C>A (p.Pro1254Gln) c.3050C>A (p.Pro1017Gln) c.3597+762C>A (n.3597+762C>A) c.3547+1301C>A (n.3547+1301C>A) c.2987C>A (p.Pro996Gln) c.2954C>A (p.Pro985Gln) c.3167C>A (p.Pro1056Gln)
X	g.53235022G>A	CA413141626	IQSEC2	c.3823C>T (p.Pro1275Ser) c.1453+761C>T c.962+761C>T c.316+1300C>T (n.316+1300C>T) c.514+1300C>T (n.514+1300C>T) c.149C>T (n.149C>T) c.3664C>T (p.Pro1222Ser) c.3634C>T (p.Pro1212Ser) c.3760C>T (p.Pro1254Ser) c.3049C>T (p.Pro1017Ser) c.3597+761C>T (n.3597+761C>T) c.3547+1300C>T (n.3547+1300C>T) c.2986C>T (p.Pro996Ser) c.2953C>T (p.Pro985Ser) c.3166C>T (p.Pro1056Ser)
X	g.53235022G>C	CA413141629	IQSEC2	c.3823C>G (p.Pro1275Ala) c.1453+761C>G c.962+761C>G c.316+1300C>G (n.316+1300C>G) c.514+1300C>G (n.514+1300C>G) c.149C>G (n.149C>G) c.3664C>G (p.Pro1222Ala) c.3634C>G (p.Pro1212Ala) c.3760C>G (p.Pro1254Ala) c.3049C>G (p.Pro1017Ala) c.3597+761C>G (n.3597+761C>G) c.3547+1300C>G (n.3547+1300C>G) c.2986C>G (p.Pro996Ala) c.2953C>G (p.Pro985Ala) c.3166C>G (p.Pro1056Ala)
X	g.53235022G>T	CA413141632	IQSEC2	c.3823C>A (p.Pro1275Thr) c.1453+761C>A c.962+761C>A c.316+1300C>A (n.316+1300C>A) c.514+1300C>A (n.514+1300C>A) c.149C>A (n.149C>A) c.3664C>A (p.Pro1222Thr) c.3634C>A (p.Pro1212Thr) c.3760C>A (p.Pro1254Thr) c.3049C>A (p.Pro1017Thr) c.3597+761C>A (n.3597+761C>A) c.3547+1300C>A (n.3547+1300C>A) c.2986C>A (p.Pro996Thr) c.2953C>A (p.Pro985Thr) c.3166C>A (p.Pro1056Thr)
X	g.53235023T>A	CA516673807	IQSEC2	c.3822A>T (p.Pro1274=) c.1453+760A>T c.962+760A>T c.316+1299A>T (n.316+1299A>T) c.514+1299A>T (n.514+1299A>T) c.148A>T (n.148A>T) c.3663A>T (p.Pro1221=) c.3633A>T (p.Pro1211=) c.3759A>T (p.Pro1253=) c.3048A>T (p.Pro1016=) c.3597+760A>T (n.3597+760A>T) c.3547+1299A>T (n.3547+1299A>T) c.2985A>T (p.Pro995=) c.2952A>T (p.Pro984=) c.3165A>T (p.Pro1055=)
X	g.53235023T>C	CA206654	IQSEC2	c.3822A>G (p.Pro1274=) c.1453+760A>G c.962+760A>G c.316+1299A>G (n.316+1299A>G) c.514+1299A>G (n.514+1299A>G) c.148A>G (n.148A>G) c.3663A>G (p.Pro1221=) c.3633A>G (p.Pro1211=) c.3759A>G (p.Pro1253=) c.3048A>G (p.Pro1016=) c.3597+760A>G (n.3597+760A>G) c.3547+1299A>G (n.3547+1299A>G) c.2985A>G (p.Pro995=) c.2952A>G (p.Pro984=) c.3165A>G (p.Pro1055=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235023T>G	CA516673810	IQSEC2	c.3822A>C (p.Pro1274=) c.1453+760A>C c.962+760A>C c.316+1299A>C (n.316+1299A>C) c.514+1299A>C (n.514+1299A>C) c.148A>C (n.148A>C) c.3663A>C (p.Pro1221=) c.3633A>C (p.Pro1211=) c.3759A>C (p.Pro1253=) c.3048A>C (p.Pro1016=) c.3597+760A>C (n.3597+760A>C) c.3547+1299A>C (n.3547+1299A>C) c.2985A>C (p.Pro995=) c.2952A>C (p.Pro984=) c.3165A>C (p.Pro1055=)
X	g.53235023T=	CA2429770675	IQSEC2	c.3822A= (p.Pro1274=) c.1453+760A= c.962+760A= c.316+1299A= (n.316+1299A=) c.514+1299A= (n.514+1299A=) c.148A= (n.148A=) c.3663A= (p.Pro1221=) c.3633A= (p.Pro1211=) c.3759A= (p.Pro1253=) c.3048A= (p.Pro1016=) c.3597+760A= (n.3597+760A=) c.3547+1299A= (n.3547+1299A=) c.2985A= (p.Pro995=) c.2952A= (p.Pro984=) c.3165A= (p.Pro1055=)
X	g.53235024G>A	CA413141654	IQSEC2	c.3821C>T (p.Pro1274Leu) c.1453+759C>T c.962+759C>T c.316+1298C>T (n.316+1298C>T) c.514+1298C>T (n.514+1298C>T) c.147C>T (n.147C>T) c.3662C>T (p.Pro1221Leu) c.3632C>T (p.Pro1211Leu) c.3758C>T (p.Pro1253Leu) c.3047C>T (p.Pro1016Leu) c.3597+759C>T (n.3597+759C>T) c.3547+1298C>T (n.3547+1298C>T) c.2984C>T (p.Pro995Leu) c.2951C>T (p.Pro984Leu) c.3164C>T (p.Pro1055Leu)
X	g.53235024G>C	CA413141657	IQSEC2	c.3821C>G (p.Pro1274Arg) c.1453+759C>G c.962+759C>G c.316+1298C>G (n.316+1298C>G) c.514+1298C>G (n.514+1298C>G) c.147C>G (n.147C>G) c.3662C>G (p.Pro1221Arg) c.3632C>G (p.Pro1211Arg) c.3758C>G (p.Pro1253Arg) c.3047C>G (p.Pro1016Arg) c.3597+759C>G (n.3597+759C>G) c.3547+1298C>G (n.3547+1298C>G) c.2984C>G (p.Pro995Arg) c.2951C>G (p.Pro984Arg) c.3164C>G (p.Pro1055Arg)
X	g.53235024G>T	CA413141660	IQSEC2	c.3821C>A (p.Pro1274Gln) c.1453+759C>A c.962+759C>A c.316+1298C>A (n.316+1298C>A) c.514+1298C>A (n.514+1298C>A) c.147C>A (n.147C>A) c.3662C>A (p.Pro1221Gln) c.3632C>A (p.Pro1211Gln) c.3758C>A (p.Pro1253Gln) c.3047C>A (p.Pro1016Gln) c.3597+759C>A (n.3597+759C>A) c.3547+1298C>A (n.3547+1298C>A) c.2984C>A (p.Pro995Gln) c.2951C>A (p.Pro984Gln) c.3164C>A (p.Pro1055Gln)	ClinVar gnomAD v4
X	g.53235025G>A	CA413141669	IQSEC2	c.3820C>T (p.Pro1274Ser) c.1453+758C>T c.962+758C>T c.316+1297C>T (n.316+1297C>T) c.514+1297C>T (n.514+1297C>T) c.146C>T (n.146C>T) c.3661C>T (p.Pro1221Ser) c.3631C>T (p.Pro1211Ser) c.3757C>T (p.Pro1253Ser) c.3046C>T (p.Pro1016Ser) c.3597+758C>T (n.3597+758C>T) c.3547+1297C>T (n.3547+1297C>T) c.2983C>T (p.Pro995Ser) c.2950C>T (p.Pro984Ser) c.3163C>T (p.Pro1055Ser)	gnomAD v4
X	g.53235025G>C	CA413141664	IQSEC2	c.3820C>G (p.Pro1274Ala) c.1453+758C>G c.962+758C>G c.316+1297C>G (n.316+1297C>G) c.514+1297C>G (n.514+1297C>G) c.146C>G (n.146C>G) c.3661C>G (p.Pro1221Ala) c.3631C>G (p.Pro1211Ala) c.3757C>G (p.Pro1253Ala) c.3046C>G (p.Pro1016Ala) c.3597+758C>G (n.3597+758C>G) c.3547+1297C>G (n.3547+1297C>G) c.2983C>G (p.Pro995Ala) c.2950C>G (p.Pro984Ala) c.3163C>G (p.Pro1055Ala)
X	g.53235025G>T	CA413141667	IQSEC2	c.3820C>A (p.Pro1274Thr) c.1453+758C>A c.962+758C>A c.316+1297C>A (n.316+1297C>A) c.514+1297C>A (n.514+1297C>A) c.146C>A (n.146C>A) c.3661C>A (p.Pro1221Thr) c.3631C>A (p.Pro1211Thr) c.3757C>A (p.Pro1253Thr) c.3046C>A (p.Pro1016Thr) c.3597+758C>A (n.3597+758C>A) c.3547+1297C>A (n.3547+1297C>A) c.2983C>A (p.Pro995Thr) c.2950C>A (p.Pro984Thr) c.3163C>A (p.Pro1055Thr)
X	g.53235026C>A	CA413141674	IQSEC2	c.3819G>T (p.Met1273Ile) c.1453+757G>T c.962+757G>T c.316+1296G>T (n.316+1296G>T) c.514+1296G>T (n.514+1296G>T) c.145G>T (n.145G>T) c.3660G>T (p.Met1220Ile) c.3630G>T (p.Met1210Ile) c.3756G>T (p.Met1252Ile) c.3045G>T (p.Met1015Ile) c.3597+757G>T (n.3597+757G>T) c.3547+1296G>T (n.3547+1296G>T) c.2982G>T (p.Met994Ile) c.2949G>T (p.Met983Ile) c.3162G>T (p.Met1054Ile)
X	g.53235026C>G	CA413141677	IQSEC2	c.3819G>C (p.Met1273Ile) c.1453+757G>C c.962+757G>C c.316+1296G>C (n.316+1296G>C) c.514+1296G>C (n.514+1296G>C) c.145G>C (n.145G>C) c.3660G>C (p.Met1220Ile) c.3630G>C (p.Met1210Ile) c.3756G>C (p.Met1252Ile) c.3045G>C (p.Met1015Ile) c.3597+757G>C (n.3597+757G>C) c.3547+1296G>C (n.3547+1296G>C) c.2982G>C (p.Met994Ile) c.2949G>C (p.Met983Ile) c.3162G>C (p.Met1054Ile)
X	g.53235026C>T	CA413141679	IQSEC2	c.3819G>A (p.Met1273Ile) c.1453+757G>A c.962+757G>A c.316+1296G>A (n.316+1296G>A) c.514+1296G>A (n.514+1296G>A) c.145G>A (n.145G>A) c.3660G>A (p.Met1220Ile) c.3630G>A (p.Met1210Ile) c.3756G>A (p.Met1252Ile) c.3045G>A (p.Met1015Ile) c.3597+757G>A (n.3597+757G>A) c.3547+1296G>A (n.3547+1296G>A) c.2982G>A (p.Met994Ile) c.2949G>A (p.Met983Ile) c.3162G>A (p.Met1054Ile)
X	g.53235027A>C	CA413141684	IQSEC2	c.3818T>G (p.Met1273Arg) c.1453+756T>G c.962+756T>G c.316+1295T>G (n.316+1295T>G) c.514+1295T>G (n.514+1295T>G) c.144T>G (n.144T>G) c.3659T>G (p.Met1220Arg) c.3629T>G (p.Met1210Arg) c.3755T>G (p.Met1252Arg) c.3044T>G (p.Met1015Arg) c.3597+756T>G (n.3597+756T>G) c.3547+1295T>G (n.3547+1295T>G) c.2981T>G (p.Met994Arg) c.2948T>G (p.Met983Arg) c.3161T>G (p.Met1054Arg)
X	g.53235027A>G	CA413141688	IQSEC2	c.3818T>C (p.Met1273Thr) c.1453+756T>C c.962+756T>C c.316+1295T>C (n.316+1295T>C) c.514+1295T>C (n.514+1295T>C) c.144T>C (n.144T>C) c.3659T>C (p.Met1220Thr) c.3629T>C (p.Met1210Thr) c.3755T>C (p.Met1252Thr) c.3044T>C (p.Met1015Thr) c.3597+756T>C (n.3597+756T>C) c.3547+1295T>C (n.3547+1295T>C) c.2981T>C (p.Met994Thr) c.2948T>C (p.Met983Thr) c.3161T>C (p.Met1054Thr)	gnomAD v4
X	g.53235027A>T	CA413141689	IQSEC2	c.3818T>A (p.Met1273Lys) c.1453+756T>A c.962+756T>A c.316+1295T>A (n.316+1295T>A) c.514+1295T>A (n.514+1295T>A) c.144T>A (n.144T>A) c.3659T>A (p.Met1220Lys) c.3629T>A (p.Met1210Lys) c.3755T>A (p.Met1252Lys) c.3044T>A (p.Met1015Lys) c.3597+756T>A (n.3597+756T>A) c.3547+1295T>A (n.3547+1295T>A) c.2981T>A (p.Met994Lys) c.2948T>A (p.Met983Lys) c.3161T>A (p.Met1054Lys)
X	g.53235028T>A	CA413141694	IQSEC2	c.3817A>T (p.Met1273Leu) c.1453+755A>T c.962+755A>T c.316+1294A>T (n.316+1294A>T) c.514+1294A>T (n.514+1294A>T) c.143A>T (n.143A>T) c.3658A>T (p.Met1220Leu) c.3628A>T (p.Met1210Leu) c.3754A>T (p.Met1252Leu) c.3043A>T (p.Met1015Leu) c.3597+755A>T (n.3597+755A>T) c.3547+1294A>T (n.3547+1294A>T) c.2980A>T (p.Met994Leu) c.2947A>T (p.Met983Leu) c.3160A>T (p.Met1054Leu)
X	g.53235028T>C	CA413141697	IQSEC2	c.3817A>G (p.Met1273Val) c.1453+755A>G c.962+755A>G c.316+1294A>G (n.316+1294A>G) c.514+1294A>G (n.514+1294A>G) c.143A>G (n.143A>G) c.3658A>G (p.Met1220Val) c.3628A>G (p.Met1210Val) c.3754A>G (p.Met1252Val) c.3043A>G (p.Met1015Val) c.3597+755A>G (n.3597+755A>G) c.3547+1294A>G (n.3547+1294A>G) c.2980A>G (p.Met994Val) c.2947A>G (p.Met983Val) c.3160A>G (p.Met1054Val)	dbSNP gnomAD v2 gnomAD v4
X	g.53235028T>G	CA413141700	IQSEC2	c.3817A>C (p.Met1273Leu) c.1453+755A>C c.962+755A>C c.316+1294A>C (n.316+1294A>C) c.514+1294A>C (n.514+1294A>C) c.143A>C (n.143A>C) c.3658A>C (p.Met1220Leu) c.3628A>C (p.Met1210Leu) c.3754A>C (p.Met1252Leu) c.3043A>C (p.Met1015Leu) c.3597+755A>C (n.3597+755A>C) c.3547+1294A>C (n.3547+1294A>C) c.2980A>C (p.Met994Leu) c.2947A>C (p.Met983Leu) c.3160A>C (p.Met1054Leu)
X	g.53235028T=	CA2429770676	IQSEC2	c.3817A= (p.Met1273=) c.1453+755A= c.962+755A= c.316+1294A= (n.316+1294A=) c.514+1294A= (n.514+1294A=) c.143A= (n.143A=) c.3658A= (p.Met1220=) c.3628A= (p.Met1210=) c.3754A= (p.Met1252=) c.3043A= (p.Met1015=) c.3597+755A= (n.3597+755A=) c.3547+1294A= (n.3547+1294A=) c.2980A= (p.Met994=) c.2947A= (p.Met983=) c.3160A= (p.Met1054=)
X	g.53235029C>A	CA413141704	IQSEC2	c.3816G>T (p.Gln1272His) c.1453+754G>T c.962+754G>T c.316+1293G>T (n.316+1293G>T) c.514+1293G>T (n.514+1293G>T) c.142G>T (n.142G>T) c.3657G>T (p.Gln1219His) c.3627G>T (p.Gln1209His) c.3753G>T (p.Gln1251His) c.3042G>T (p.Gln1014His) c.3597+754G>T (n.3597+754G>T) c.3547+1293G>T (n.3547+1293G>T) c.2979G>T (p.Gln993His) c.2946G>T (p.Gln982His) c.3159G>T (p.Gln1053His)
X	g.53235029C>G	CA413141706	IQSEC2	c.3816G>C (p.Gln1272His) c.1453+754G>C c.962+754G>C c.316+1293G>C (n.316+1293G>C) c.514+1293G>C (n.514+1293G>C) c.142G>C (n.142G>C) c.3657G>C (p.Gln1219His) c.3627G>C (p.Gln1209His) c.3753G>C (p.Gln1251His) c.3042G>C (p.Gln1014His) c.3597+754G>C (n.3597+754G>C) c.3547+1293G>C (n.3547+1293G>C) c.2979G>C (p.Gln993His) c.2946G>C (p.Gln982His) c.3159G>C (p.Gln1053His)
X	g.53235029C>T	CA516673819	IQSEC2	c.3816G>A (p.Gln1272=) c.1453+754G>A c.962+754G>A c.316+1293G>A (n.316+1293G>A) c.514+1293G>A (n.514+1293G>A) c.142G>A (n.142G>A) c.3657G>A (p.Gln1219=) c.3627G>A (p.Gln1209=) c.3753G>A (p.Gln1251=) c.3042G>A (p.Gln1014=) c.3597+754G>A (n.3597+754G>A) c.3547+1293G>A (n.3547+1293G>A) c.2979G>A (p.Gln993=) c.2946G>A (p.Gln982=) c.3159G>A (p.Gln1053=)	gnomAD v4
X	g.53235030T>A	CA413141718	IQSEC2	c.3815A>T (p.Gln1272Leu) c.1453+753A>T c.962+753A>T c.316+1292A>T (n.316+1292A>T) c.514+1292A>T (n.514+1292A>T) c.141A>T (n.141A>T) c.3656A>T (p.Gln1219Leu) c.3626A>T (p.Gln1209Leu) c.3752A>T (p.Gln1251Leu) c.3041A>T (p.Gln1014Leu) c.3597+753A>T (n.3597+753A>T) c.3547+1292A>T (n.3547+1292A>T) c.2978A>T (p.Gln993Leu) c.2945A>T (p.Gln982Leu) c.3158A>T (p.Gln1053Leu)
X	g.53235030T>C	CA413141715	IQSEC2	c.3815A>G (p.Gln1272Arg) c.1453+753A>G c.962+753A>G c.316+1292A>G (n.316+1292A>G) c.514+1292A>G (n.514+1292A>G) c.141A>G (n.141A>G) c.3656A>G (p.Gln1219Arg) c.3626A>G (p.Gln1209Arg) c.3752A>G (p.Gln1251Arg) c.3041A>G (p.Gln1014Arg) c.3597+753A>G (n.3597+753A>G) c.3547+1292A>G (n.3547+1292A>G) c.2978A>G (p.Gln993Arg) c.2945A>G (p.Gln982Arg) c.3158A>G (p.Gln1053Arg)
X	g.53235030T>G	CA413141711	IQSEC2	c.3815A>C (p.Gln1272Pro) c.1453+753A>C c.962+753A>C c.316+1292A>C (n.316+1292A>C) c.514+1292A>C (n.514+1292A>C) c.141A>C (n.141A>C) c.3656A>C (p.Gln1219Pro) c.3626A>C (p.Gln1209Pro) c.3752A>C (p.Gln1251Pro) c.3041A>C (p.Gln1014Pro) c.3597+753A>C (n.3597+753A>C) c.3547+1292A>C (n.3547+1292A>C) c.2978A>C (p.Gln993Pro) c.2945A>C (p.Gln982Pro) c.3158A>C (p.Gln1053Pro)
X	g.53235031G>A	CA413141723	IQSEC2	c.3814C>T (p.Gln1272Ter) c.1453+752C>T c.962+752C>T c.316+1291C>T (n.316+1291C>T) c.514+1291C>T (n.514+1291C>T) c.140C>T (n.140C>T) c.3655C>T (p.Gln1219Ter) c.3625C>T (p.Gln1209Ter) c.3751C>T (p.Gln1251Ter) c.3040C>T (p.Gln1014Ter) c.3597+752C>T (n.3597+752C>T) c.3547+1291C>T (n.3547+1291C>T) c.2977C>T (p.Gln993Ter) c.2944C>T (p.Gln982Ter) c.3157C>T (p.Gln1053Ter)
X	g.53235031G>C	CA413141725	IQSEC2	c.3814C>G (p.Gln1272Glu) c.1453+752C>G c.962+752C>G c.316+1291C>G (n.316+1291C>G) c.514+1291C>G (n.514+1291C>G) c.140C>G (n.140C>G) c.3655C>G (p.Gln1219Glu) c.3625C>G (p.Gln1209Glu) c.3751C>G (p.Gln1251Glu) c.3040C>G (p.Gln1014Glu) c.3597+752C>G (n.3597+752C>G) c.3547+1291C>G (n.3547+1291C>G) c.2977C>G (p.Gln993Glu) c.2944C>G (p.Gln982Glu) c.3157C>G (p.Gln1053Glu)
X	g.53235031G>T	CA413141727	IQSEC2	c.3814C>A (p.Gln1272Lys) c.1453+752C>A c.962+752C>A c.316+1291C>A (n.316+1291C>A) c.514+1291C>A (n.514+1291C>A) c.140C>A (n.140C>A) c.3655C>A (p.Gln1219Lys) c.3625C>A (p.Gln1209Lys) c.3751C>A (p.Gln1251Lys) c.3040C>A (p.Gln1014Lys) c.3597+752C>A (n.3597+752C>A) c.3547+1291C>A (n.3547+1291C>A) c.2977C>A (p.Gln993Lys) c.2944C>A (p.Gln982Lys) c.3157C>A (p.Gln1053Lys)
X	g.53235032G>A	CA516673824	IQSEC2	c.3813C>T (p.Phe1271=) c.1453+751C>T c.962+751C>T c.316+1290C>T (n.316+1290C>T) c.514+1290C>T (n.514+1290C>T) c.139C>T (n.139C>T) c.3654C>T (p.Phe1218=) c.3624C>T (p.Phe1208=) c.3750C>T (p.Phe1250=) c.3039C>T (p.Phe1013=) c.3597+751C>T (n.3597+751C>T) c.3547+1290C>T (n.3547+1290C>T) c.2976C>T (p.Phe992=) c.2943C>T (p.Phe981=) c.3156C>T (p.Phe1052=)	gnomAD v4
X	g.53235032G>C	CA413141731	IQSEC2	c.3813C>G (p.Phe1271Leu) c.1453+751C>G c.962+751C>G c.316+1290C>G (n.316+1290C>G) c.514+1290C>G (n.514+1290C>G) c.139C>G (n.139C>G) c.3654C>G (p.Phe1218Leu) c.3624C>G (p.Phe1208Leu) c.3750C>G (p.Phe1250Leu) c.3039C>G (p.Phe1013Leu) c.3597+751C>G (n.3597+751C>G) c.3547+1290C>G (n.3547+1290C>G) c.2976C>G (p.Phe992Leu) c.2943C>G (p.Phe981Leu) c.3156C>G (p.Phe1052Leu)	gnomAD v4
X	g.53235032G>T	CA413141735	IQSEC2	c.3813C>A (p.Phe1271Leu) c.1453+751C>A c.962+751C>A c.316+1290C>A (n.316+1290C>A) c.514+1290C>A (n.514+1290C>A) c.139C>A (n.139C>A) c.3654C>A (p.Phe1218Leu) c.3624C>A (p.Phe1208Leu) c.3750C>A (p.Phe1250Leu) c.3039C>A (p.Phe1013Leu) c.3597+751C>A (n.3597+751C>A) c.3547+1290C>A (n.3547+1290C>A) c.2976C>A (p.Phe992Leu) c.2943C>A (p.Phe981Leu) c.3156C>A (p.Phe1052Leu)
X	g.53235033A>C	CA413141741	IQSEC2	c.3812T>G (p.Phe1271Cys) c.1453+750T>G c.962+750T>G c.316+1289T>G (n.316+1289T>G) c.514+1289T>G (n.514+1289T>G) c.138T>G (n.138T>G) c.3653T>G (p.Phe1218Cys) c.3623T>G (p.Phe1208Cys) c.3749T>G (p.Phe1250Cys) c.3038T>G (p.Phe1013Cys) c.3597+750T>G (n.3597+750T>G) c.3547+1289T>G (n.3547+1289T>G) c.2975T>G (p.Phe992Cys) c.2942T>G (p.Phe981Cys) c.3155T>G (p.Phe1052Cys)
X	g.53235033A>G	CA413141740	IQSEC2	c.3812T>C (p.Phe1271Ser) c.1453+750T>C c.962+750T>C c.316+1289T>C (n.316+1289T>C) c.514+1289T>C (n.514+1289T>C) c.138T>C (n.138T>C) c.3653T>C (p.Phe1218Ser) c.3623T>C (p.Phe1208Ser) c.3749T>C (p.Phe1250Ser) c.3038T>C (p.Phe1013Ser) c.3597+750T>C (n.3597+750T>C) c.3547+1289T>C (n.3547+1289T>C) c.2975T>C (p.Phe992Ser) c.2942T>C (p.Phe981Ser) c.3155T>C (p.Phe1052Ser)
X	g.53235033A>T	CA413141738	IQSEC2	c.3812T>A (p.Phe1271Tyr) c.1453+750T>A c.962+750T>A c.316+1289T>A (n.316+1289T>A) c.514+1289T>A (n.514+1289T>A) c.138T>A (n.138T>A) c.3653T>A (p.Phe1218Tyr) c.3623T>A (p.Phe1208Tyr) c.3749T>A (p.Phe1250Tyr) c.3038T>A (p.Phe1013Tyr) c.3597+750T>A (n.3597+750T>A) c.3547+1289T>A (n.3547+1289T>A) c.2975T>A (p.Phe992Tyr) c.2942T>A (p.Phe981Tyr) c.3155T>A (p.Phe1052Tyr)
X	g.53235034A>C	CA413141744	IQSEC2	c.3811T>G (p.Phe1271Val) c.1453+749T>G c.962+749T>G c.316+1288T>G (n.316+1288T>G) c.514+1288T>G (n.514+1288T>G) c.137T>G (n.137T>G) c.3652T>G (p.Phe1218Val) c.3622T>G (p.Phe1208Val) c.3748T>G (p.Phe1250Val) c.3037T>G (p.Phe1013Val) c.3597+749T>G (n.3597+749T>G) c.3547+1288T>G (n.3547+1288T>G) c.2974T>G (p.Phe992Val) c.2941T>G (p.Phe981Val) c.3154T>G (p.Phe1052Val)
X	g.53235034A>G	CA413141746	IQSEC2	c.3811T>C (p.Phe1271Leu) c.1453+749T>C c.962+749T>C c.316+1288T>C (n.316+1288T>C) c.514+1288T>C (n.514+1288T>C) c.137T>C (n.137T>C) c.3652T>C (p.Phe1218Leu) c.3622T>C (p.Phe1208Leu) c.3748T>C (p.Phe1250Leu) c.3037T>C (p.Phe1013Leu) c.3597+749T>C (n.3597+749T>C) c.3547+1288T>C (n.3547+1288T>C) c.2974T>C (p.Phe992Leu) c.2941T>C (p.Phe981Leu) c.3154T>C (p.Phe1052Leu)
X	g.53235034A>T	CA413141749	IQSEC2	c.3811T>A (p.Phe1271Ile) c.1453+749T>A c.962+749T>A c.316+1288T>A (n.316+1288T>A) c.514+1288T>A (n.514+1288T>A) c.137T>A (n.137T>A) c.3652T>A (p.Phe1218Ile) c.3622T>A (p.Phe1208Ile) c.3748T>A (p.Phe1250Ile) c.3037T>A (p.Phe1013Ile) c.3597+749T>A (n.3597+749T>A) c.3547+1288T>A (n.3547+1288T>A) c.2974T>A (p.Phe992Ile) c.2941T>A (p.Phe981Ile) c.3154T>A (p.Phe1052Ile)
X	g.53235035G>A	CA516673831	IQSEC2	c.3810C>T (p.Pro1270=) c.1453+748C>T c.962+748C>T c.316+1287C>T (n.316+1287C>T) c.514+1287C>T (n.514+1287C>T) c.136C>T (n.136C>T) c.3651C>T (p.Pro1217=) c.3621C>T (p.Pro1207=) c.3747C>T (p.Pro1249=) c.3036C>T (p.Pro1012=) c.3597+748C>T (n.3597+748C>T) c.3547+1287C>T (n.3547+1287C>T) c.2973C>T (p.Pro991=) c.2940C>T (p.Pro980=) c.3153C>T (p.Pro1051=)	COSMIC COSMIC
X	g.53235035G>C	CA516673832	IQSEC2	c.3810C>G (p.Pro1270=) c.1453+748C>G c.962+748C>G c.316+1287C>G (n.316+1287C>G) c.514+1287C>G (n.514+1287C>G) c.136C>G (n.136C>G) c.3651C>G (p.Pro1217=) c.3621C>G (p.Pro1207=) c.3747C>G (p.Pro1249=) c.3036C>G (p.Pro1012=) c.3597+748C>G (n.3597+748C>G) c.3547+1287C>G (n.3547+1287C>G) c.2973C>G (p.Pro991=) c.2940C>G (p.Pro980=) c.3153C>G (p.Pro1051=)
X	g.53235035G>T	CA516673833	IQSEC2	c.3810C>A (p.Pro1270=) c.1453+748C>A c.962+748C>A c.316+1287C>A (n.316+1287C>A) c.514+1287C>A (n.514+1287C>A) c.136C>A (n.136C>A) c.3651C>A (p.Pro1217=) c.3621C>A (p.Pro1207=) c.3747C>A (p.Pro1249=) c.3036C>A (p.Pro1012=) c.3597+748C>A (n.3597+748C>A) c.3547+1287C>A (n.3547+1287C>A) c.2973C>A (p.Pro991=) c.2940C>A (p.Pro980=) c.3153C>A (p.Pro1051=)
X	g.53235036G>A	CA413141755	IQSEC2	c.3809C>T (p.Pro1270Leu) c.1453+747C>T c.962+747C>T c.316+1286C>T (n.316+1286C>T) c.514+1286C>T (n.514+1286C>T) c.135C>T (n.135C>T) c.3650C>T (p.Pro1217Leu) c.3620C>T (p.Pro1207Leu) c.3746C>T (p.Pro1249Leu) c.3035C>T (p.Pro1012Leu) c.3597+747C>T (n.3597+747C>T) c.3547+1286C>T (n.3547+1286C>T) c.2972C>T (p.Pro991Leu) c.2939C>T (p.Pro980Leu) c.3152C>T (p.Pro1051Leu)
X	g.53235036G>C	CA413141759	IQSEC2	c.3809C>G (p.Pro1270Arg) c.1453+747C>G c.962+747C>G c.316+1286C>G (n.316+1286C>G) c.514+1286C>G (n.514+1286C>G) c.135C>G (n.135C>G) c.3650C>G (p.Pro1217Arg) c.3620C>G (p.Pro1207Arg) c.3746C>G (p.Pro1249Arg) c.3035C>G (p.Pro1012Arg) c.3597+747C>G (n.3597+747C>G) c.3547+1286C>G (n.3547+1286C>G) c.2972C>G (p.Pro991Arg) c.2939C>G (p.Pro980Arg) c.3152C>G (p.Pro1051Arg)
X	g.53235036G>T	CA413141762	IQSEC2	c.3809C>A (p.Pro1270His) c.1453+747C>A c.962+747C>A c.316+1286C>A (n.316+1286C>A) c.514+1286C>A (n.514+1286C>A) c.135C>A (n.135C>A) c.3650C>A (p.Pro1217His) c.3620C>A (p.Pro1207His) c.3746C>A (p.Pro1249His) c.3035C>A (p.Pro1012His) c.3597+747C>A (n.3597+747C>A) c.3547+1286C>A (n.3547+1286C>A) c.2972C>A (p.Pro991His) c.2939C>A (p.Pro980His) c.3152C>A (p.Pro1051His)
X	g.53235037G>A	CA413141767	IQSEC2	c.3808C>T (p.Pro1270Ser) c.1453+746C>T c.962+746C>T c.316+1285C>T (n.316+1285C>T) c.514+1285C>T (n.514+1285C>T) c.134C>T (n.134C>T) c.3649C>T (p.Pro1217Ser) c.3619C>T (p.Pro1207Ser) c.3745C>T (p.Pro1249Ser) c.3034C>T (p.Pro1012Ser) c.3597+746C>T (n.3597+746C>T) c.3547+1285C>T (n.3547+1285C>T) c.2971C>T (p.Pro991Ser) c.2938C>T (p.Pro980Ser) c.3151C>T (p.Pro1051Ser)
X	g.53235037G>C	CA413141772	IQSEC2	c.3808C>G (p.Pro1270Ala) c.1453+746C>G c.962+746C>G c.316+1285C>G (n.316+1285C>G) c.514+1285C>G (n.514+1285C>G) c.134C>G (n.134C>G) c.3649C>G (p.Pro1217Ala) c.3619C>G (p.Pro1207Ala) c.3745C>G (p.Pro1249Ala) c.3034C>G (p.Pro1012Ala) c.3597+746C>G (n.3597+746C>G) c.3547+1285C>G (n.3547+1285C>G) c.2971C>G (p.Pro991Ala) c.2938C>G (p.Pro980Ala) c.3151C>G (p.Pro1051Ala)
X	g.53235037G>T	CA413141770	IQSEC2	c.3808C>A (p.Pro1270Thr) c.1453+746C>A c.962+746C>A c.316+1285C>A (n.316+1285C>A) c.514+1285C>A (n.514+1285C>A) c.134C>A (n.134C>A) c.3649C>A (p.Pro1217Thr) c.3619C>A (p.Pro1207Thr) c.3745C>A (p.Pro1249Thr) c.3034C>A (p.Pro1012Thr) c.3597+746C>A (n.3597+746C>A) c.3547+1285C>A (n.3547+1285C>A) c.2971C>A (p.Pro991Thr) c.2938C>A (p.Pro980Thr) c.3151C>A (p.Pro1051Thr)
X	g.53235038C>A	CA516673838	IQSEC2	c.3807G>T (p.Gly1269=) c.1453+745G>T c.962+745G>T c.316+1284G>T (n.316+1284G>T) c.514+1284G>T (n.514+1284G>T) c.133G>T (n.133G>T) c.3648G>T (p.Gly1216=) c.3618G>T (p.Gly1206=) c.3744G>T (p.Gly1248=) c.3033G>T (p.Gly1011=) c.3597+745G>T (n.3597+745G>T) c.3547+1284G>T (n.3547+1284G>T) c.2970G>T (p.Gly990=) c.2937G>T (p.Gly979=) c.3150G>T (p.Gly1050=)
X	g.53235038C>G	CA516673840	IQSEC2	c.3807G>C (p.Gly1269=) c.1453+745G>C c.962+745G>C c.316+1284G>C (n.316+1284G>C) c.514+1284G>C (n.514+1284G>C) c.133G>C (n.133G>C) c.3648G>C (p.Gly1216=) c.3618G>C (p.Gly1206=) c.3744G>C (p.Gly1248=) c.3033G>C (p.Gly1011=) c.3597+745G>C (n.3597+745G>C) c.3547+1284G>C (n.3547+1284G>C) c.2970G>C (p.Gly990=) c.2937G>C (p.Gly979=) c.3150G>C (p.Gly1050=)
X	g.53235038C>T	CA516673839	IQSEC2	c.3807G>A (p.Gly1269=) c.1453+745G>A c.962+745G>A c.316+1284G>A (n.316+1284G>A) c.514+1284G>A (n.514+1284G>A) c.133G>A (n.133G>A) c.3648G>A (p.Gly1216=) c.3618G>A (p.Gly1206=) c.3744G>A (p.Gly1248=) c.3033G>A (p.Gly1011=) c.3597+745G>A (n.3597+745G>A) c.3547+1284G>A (n.3547+1284G>A) c.2970G>A (p.Gly990=) c.2937G>A (p.Gly979=) c.3150G>A (p.Gly1050=)
X	g.53235039C>A	CA413141774	IQSEC2	c.3806G>T (p.Gly1269Val) c.1453+744G>T c.962+744G>T c.316+1283G>T (n.316+1283G>T) c.514+1283G>T (n.514+1283G>T) c.132G>T (n.132G>T) c.3647G>T (p.Gly1216Val) c.3617G>T (p.Gly1206Val) c.3743G>T (p.Gly1248Val) c.3032G>T (p.Gly1011Val) c.3597+744G>T (n.3597+744G>T) c.3547+1283G>T (n.3547+1283G>T) c.2969G>T (p.Gly990Val) c.2936G>T (p.Gly979Val) c.3149G>T (p.Gly1050Val)
X	g.53235039C>G	CA413141776	IQSEC2	c.3806G>C (p.Gly1269Ala) c.1453+744G>C c.962+744G>C c.316+1283G>C (n.316+1283G>C) c.514+1283G>C (n.514+1283G>C) c.132G>C (n.132G>C) c.3647G>C (p.Gly1216Ala) c.3617G>C (p.Gly1206Ala) c.3743G>C (p.Gly1248Ala) c.3032G>C (p.Gly1011Ala) c.3597+744G>C (n.3597+744G>C) c.3547+1283G>C (n.3547+1283G>C) c.2969G>C (p.Gly990Ala) c.2936G>C (p.Gly979Ala) c.3149G>C (p.Gly1050Ala)
X	g.53235039C>T	CA413141781	IQSEC2	c.3806G>A (p.Gly1269Glu) c.1453+744G>A c.962+744G>A c.316+1283G>A (n.316+1283G>A) c.514+1283G>A (n.514+1283G>A) c.132G>A (n.132G>A) c.3647G>A (p.Gly1216Glu) c.3617G>A (p.Gly1206Glu) c.3743G>A (p.Gly1248Glu) c.3032G>A (p.Gly1011Glu) c.3597+744G>A (n.3597+744G>A) c.3547+1283G>A (n.3547+1283G>A) c.2969G>A (p.Gly990Glu) c.2936G>A (p.Gly979Glu) c.3149G>A (p.Gly1050Glu)
X	g.53235040C>A	CA413141787	IQSEC2	c.3805G>T (p.Gly1269Trp) c.1453+743G>T c.962+743G>T c.316+1282G>T (n.316+1282G>T) c.514+1282G>T (n.514+1282G>T) c.131G>T (n.131G>T) c.3646G>T (p.Gly1216Trp) c.3616G>T (p.Gly1206Trp) c.3742G>T (p.Gly1248Trp) c.3031G>T (p.Gly1011Trp) c.3597+743G>T (n.3597+743G>T) c.3547+1282G>T (n.3547+1282G>T) c.2968G>T (p.Gly990Trp) c.2935G>T (p.Gly979Trp) c.3148G>T (p.Gly1050Trp)
X	g.53235040C>G	CA413141789	IQSEC2	c.3805G>C (p.Gly1269Arg) c.1453+743G>C c.962+743G>C c.316+1282G>C (n.316+1282G>C) c.514+1282G>C (n.514+1282G>C) c.131G>C (n.131G>C) c.3646G>C (p.Gly1216Arg) c.3616G>C (p.Gly1206Arg) c.3742G>C (p.Gly1248Arg) c.3031G>C (p.Gly1011Arg) c.3597+743G>C (n.3597+743G>C) c.3547+1282G>C (n.3547+1282G>C) c.2968G>C (p.Gly990Arg) c.2935G>C (p.Gly979Arg) c.3148G>C (p.Gly1050Arg)
X	g.53235040C>T	CA413141792	IQSEC2	c.3805G>A (p.Gly1269Arg) c.1453+743G>A c.962+743G>A c.316+1282G>A (n.316+1282G>A) c.514+1282G>A (n.514+1282G>A) c.131G>A (n.131G>A) c.3646G>A (p.Gly1216Arg) c.3616G>A (p.Gly1206Arg) c.3742G>A (p.Gly1248Arg) c.3031G>A (p.Gly1011Arg) c.3597+743G>A (n.3597+743G>A) c.3547+1282G>A (n.3547+1282G>A) c.2968G>A (p.Gly990Arg) c.2935G>A (p.Gly979Arg) c.3148G>A (p.Gly1050Arg)
X	g.53235041C>A	CA413141802	IQSEC2	c.3804G>T (p.Lys1268Asn) c.1453+742G>T c.962+742G>T c.316+1281G>T (n.316+1281G>T) c.514+1281G>T (n.514+1281G>T) c.130G>T (n.130G>T) c.3645G>T (p.Lys1215Asn) c.3615G>T (p.Lys1205Asn) c.3741G>T (p.Lys1247Asn) c.3030G>T (p.Lys1010Asn) c.3597+742G>T (n.3597+742G>T) c.3547+1281G>T (n.3547+1281G>T) c.2967G>T (p.Lys989Asn) c.2934G>T (p.Lys978Asn) c.3147G>T (p.Lys1049Asn)
X	g.53235041C>G	CA413141808	IQSEC2	c.3804G>C (p.Lys1268Asn) c.1453+742G>C c.962+742G>C c.316+1281G>C (n.316+1281G>C) c.514+1281G>C (n.514+1281G>C) c.130G>C (n.130G>C) c.3645G>C (p.Lys1215Asn) c.3615G>C (p.Lys1205Asn) c.3741G>C (p.Lys1247Asn) c.3030G>C (p.Lys1010Asn) c.3597+742G>C (n.3597+742G>C) c.3547+1281G>C (n.3547+1281G>C) c.2967G>C (p.Lys989Asn) c.2934G>C (p.Lys978Asn) c.3147G>C (p.Lys1049Asn)
X	g.53235041C>T	CA516673847	IQSEC2	c.3804G>A (p.Lys1268=) c.1453+742G>A c.962+742G>A c.316+1281G>A (n.316+1281G>A) c.514+1281G>A (n.514+1281G>A) c.130G>A (n.130G>A) c.3645G>A (p.Lys1215=) c.3615G>A (p.Lys1205=) c.3741G>A (p.Lys1247=) c.3030G>A (p.Lys1010=) c.3597+742G>A (n.3597+742G>A) c.3547+1281G>A (n.3547+1281G>A) c.2967G>A (p.Lys989=) c.2934G>A (p.Lys978=) c.3147G>A (p.Lys1049=)	COSMIC COSMIC
X	g.53235042T>A	CA413141811	IQSEC2	c.3803A>T (p.Lys1268Met) c.1453+741A>T c.962+741A>T c.316+1280A>T (n.316+1280A>T) c.514+1280A>T (n.514+1280A>T) c.129A>T (n.129A>T) c.3644A>T (p.Lys1215Met) c.3614A>T (p.Lys1205Met) c.3740A>T (p.Lys1247Met) c.3029A>T (p.Lys1010Met) c.3597+741A>T (n.3597+741A>T) c.3547+1280A>T (n.3547+1280A>T) c.2966A>T (p.Lys989Met) c.2933A>T (p.Lys978Met) c.3146A>T (p.Lys1049Met)
X	g.53235042T>C	CA413141812	IQSEC2	c.3803A>G (p.Lys1268Arg) c.1453+741A>G c.962+741A>G c.316+1280A>G (n.316+1280A>G) c.514+1280A>G (n.514+1280A>G) c.129A>G (n.129A>G) c.3644A>G (p.Lys1215Arg) c.3614A>G (p.Lys1205Arg) c.3740A>G (p.Lys1247Arg) c.3029A>G (p.Lys1010Arg) c.3597+741A>G (n.3597+741A>G) c.3547+1280A>G (n.3547+1280A>G) c.2966A>G (p.Lys989Arg) c.2933A>G (p.Lys978Arg) c.3146A>G (p.Lys1049Arg)
X	g.53235042T>G	CA413141815	IQSEC2	c.3803A>C (p.Lys1268Thr) c.1453+741A>C c.962+741A>C c.316+1280A>C (n.316+1280A>C) c.514+1280A>C (n.514+1280A>C) c.129A>C (n.129A>C) c.3644A>C (p.Lys1215Thr) c.3614A>C (p.Lys1205Thr) c.3740A>C (p.Lys1247Thr) c.3029A>C (p.Lys1010Thr) c.3597+741A>C (n.3597+741A>C) c.3547+1280A>C (n.3547+1280A>C) c.2966A>C (p.Lys989Thr) c.2933A>C (p.Lys978Thr) c.3146A>C (p.Lys1049Thr)
X	g.53235043T>A	CA413141819	IQSEC2	c.3802A>T (p.Lys1268Ter) c.1453+740A>T c.962+740A>T c.316+1279A>T (n.316+1279A>T) c.514+1279A>T (n.514+1279A>T) c.128A>T (n.128A>T) c.3643A>T (p.Lys1215Ter) c.3613A>T (p.Lys1205Ter) c.3739A>T (p.Lys1247Ter) c.3028A>T (p.Lys1010Ter) c.3597+740A>T (n.3597+740A>T) c.3547+1279A>T (n.3547+1279A>T) c.2965A>T (p.Lys989Ter) c.2932A>T (p.Lys978Ter) c.3145A>T (p.Lys1049Ter)
X	g.53235043T>C	CA413141824	IQSEC2	c.3802A>G (p.Lys1268Glu) c.1453+740A>G c.962+740A>G c.316+1279A>G (n.316+1279A>G) c.514+1279A>G (n.514+1279A>G) c.128A>G (n.128A>G) c.3643A>G (p.Lys1215Glu) c.3613A>G (p.Lys1205Glu) c.3739A>G (p.Lys1247Glu) c.3028A>G (p.Lys1010Glu) c.3597+740A>G (n.3597+740A>G) c.3547+1279A>G (n.3547+1279A>G) c.2965A>G (p.Lys989Glu) c.2932A>G (p.Lys978Glu) c.3145A>G (p.Lys1049Glu)
X	g.53235043T>G	CA413141821	IQSEC2	c.3802A>C (p.Lys1268Gln) c.1453+740A>C c.962+740A>C c.316+1279A>C (n.316+1279A>C) c.514+1279A>C (n.514+1279A>C) c.128A>C (n.128A>C) c.3643A>C (p.Lys1215Gln) c.3613A>C (p.Lys1205Gln) c.3739A>C (p.Lys1247Gln) c.3028A>C (p.Lys1010Gln) c.3597+740A>C (n.3597+740A>C) c.3547+1279A>C (n.3547+1279A>C) c.2965A>C (p.Lys989Gln) c.2932A>C (p.Lys978Gln) c.3145A>C (p.Lys1049Gln)
X	g.53235044G>A	CA516673854	IQSEC2	c.3801C>T (p.Gly1267=) c.1453+739C>T c.962+739C>T c.316+1278C>T (n.316+1278C>T) c.514+1278C>T (n.514+1278C>T) c.127C>T (n.127C>T) c.3642C>T (p.Gly1214=) c.3612C>T (p.Gly1204=) c.3738C>T (p.Gly1246=) c.3027C>T (p.Gly1009=) c.3597+739C>T (n.3597+739C>T) c.3547+1278C>T (n.3547+1278C>T) c.2964C>T (p.Gly988=) c.2931C>T (p.Gly977=) c.3144C>T (p.Gly1048=)
X	g.53235044G>C	CA516673856	IQSEC2	c.3801C>G (p.Gly1267=) c.1453+739C>G c.962+739C>G c.316+1278C>G (n.316+1278C>G) c.514+1278C>G (n.514+1278C>G) c.127C>G (n.127C>G) c.3642C>G (p.Gly1214=) c.3612C>G (p.Gly1204=) c.3738C>G (p.Gly1246=) c.3027C>G (p.Gly1009=) c.3597+739C>G (n.3597+739C>G) c.3547+1278C>G (n.3547+1278C>G) c.2964C>G (p.Gly988=) c.2931C>G (p.Gly977=) c.3144C>G (p.Gly1048=)
X	g.53235044G>T	CA516673858	IQSEC2	c.3801C>A (p.Gly1267=) c.1453+739C>A c.962+739C>A c.316+1278C>A (n.316+1278C>A) c.514+1278C>A (n.514+1278C>A) c.127C>A (n.127C>A) c.3642C>A (p.Gly1214=) c.3612C>A (p.Gly1204=) c.3738C>A (p.Gly1246=) c.3027C>A (p.Gly1009=) c.3597+739C>A (n.3597+739C>A) c.3547+1278C>A (n.3547+1278C>A) c.2964C>A (p.Gly988=) c.2931C>A (p.Gly977=) c.3144C>A (p.Gly1048=)	gnomAD v4
X	g.53235045C>A	CA413141828	IQSEC2	c.3800G>T (p.Gly1267Val) c.1453+738G>T c.962+738G>T c.316+1277G>T (n.316+1277G>T) c.514+1277G>T (n.514+1277G>T) c.126G>T (n.126G>T) c.3641G>T (p.Gly1214Val) c.3611G>T (p.Gly1204Val) c.3737G>T (p.Gly1246Val) c.3026G>T (p.Gly1009Val) c.3597+738G>T (n.3597+738G>T) c.3547+1277G>T (n.3547+1277G>T) c.2963G>T (p.Gly988Val) c.2930G>T (p.Gly977Val) c.3143G>T (p.Gly1048Val)
X	g.53235045C>G	CA413141834	IQSEC2	c.3800G>C (p.Gly1267Ala) c.1453+738G>C c.962+738G>C c.316+1277G>C (n.316+1277G>C) c.514+1277G>C (n.514+1277G>C) c.126G>C (n.126G>C) c.3641G>C (p.Gly1214Ala) c.3611G>C (p.Gly1204Ala) c.3737G>C (p.Gly1246Ala) c.3026G>C (p.Gly1009Ala) c.3597+738G>C (n.3597+738G>C) c.3547+1277G>C (n.3547+1277G>C) c.2963G>C (p.Gly988Ala) c.2930G>C (p.Gly977Ala) c.3143G>C (p.Gly1048Ala)
X	g.53235045C>T	CA413141831	IQSEC2	c.3800G>A (p.Gly1267Asp) c.1453+738G>A c.962+738G>A c.316+1277G>A (n.316+1277G>A) c.514+1277G>A (n.514+1277G>A) c.126G>A (n.126G>A) c.3641G>A (p.Gly1214Asp) c.3611G>A (p.Gly1204Asp) c.3737G>A (p.Gly1246Asp) c.3026G>A (p.Gly1009Asp) c.3597+738G>A (n.3597+738G>A) c.3547+1277G>A (n.3547+1277G>A) c.2963G>A (p.Gly988Asp) c.2930G>A (p.Gly977Asp) c.3143G>A (p.Gly1048Asp)
X	g.53235046C>A	CA413141841	IQSEC2	c.3799G>T (p.Gly1267Cys) c.1453+737G>T c.962+737G>T c.316+1276G>T (n.316+1276G>T) c.514+1276G>T (n.514+1276G>T) c.125G>T (n.125G>T) c.3640G>T (p.Gly1214Cys) c.3610G>T (p.Gly1204Cys) c.3736G>T (p.Gly1246Cys) c.3025G>T (p.Gly1009Cys) c.3597+737G>T (n.3597+737G>T) c.3547+1276G>T (n.3547+1276G>T) c.2962G>T (p.Gly988Cys) c.2929G>T (p.Gly977Cys) c.3142G>T (p.Gly1048Cys)
X	g.53235046C=	CA2429770677	IQSEC2	c.3799G= (p.Gly1267=) c.1453+737G= c.962+737G= c.316+1276G= (n.316+1276G=) c.514+1276G= (n.514+1276G=) c.125G= (n.125G=) c.3640G= (p.Gly1214=) c.3610G= (p.Gly1204=) c.3736G= (p.Gly1246=) c.3025G= (p.Gly1009=) c.3597+737G= (n.3597+737G=) c.3547+1276G= (n.3547+1276G=) c.2962G= (p.Gly988=) c.2929G= (p.Gly977=) c.3142G= (p.Gly1048=)
X	g.53235046C>G	CA413141847	IQSEC2	c.3799G>C (p.Gly1267Arg) c.1453+737G>C c.962+737G>C c.316+1276G>C (n.316+1276G>C) c.514+1276G>C (n.514+1276G>C) c.125G>C (n.125G>C) c.3640G>C (p.Gly1214Arg) c.3610G>C (p.Gly1204Arg) c.3736G>C (p.Gly1246Arg) c.3025G>C (p.Gly1009Arg) c.3597+737G>C (n.3597+737G>C) c.3547+1276G>C (n.3547+1276G>C) c.2962G>C (p.Gly988Arg) c.2929G>C (p.Gly977Arg) c.3142G>C (p.Gly1048Arg)	dbSNP gnomAD v2
X	g.53235046C>T	CA413141844	IQSEC2	c.3799G>A (p.Gly1267Ser) c.1453+737G>A c.962+737G>A c.316+1276G>A (n.316+1276G>A) c.514+1276G>A (n.514+1276G>A) c.125G>A (n.125G>A) c.3640G>A (p.Gly1214Ser) c.3610G>A (p.Gly1204Ser) c.3736G>A (p.Gly1246Ser) c.3025G>A (p.Gly1009Ser) c.3597+737G>A (n.3597+737G>A) c.3547+1276G>A (n.3547+1276G>A) c.2962G>A (p.Gly988Ser) c.2929G>A (p.Gly977Ser) c.3142G>A (p.Gly1048Ser)	ClinVar dbSNP gnomAD v4
X	g.53235047C>A	CA516673860	IQSEC2	c.3798G>T (p.Arg1266=) c.1453+736G>T c.962+736G>T c.316+1275G>T (n.316+1275G>T) c.514+1275G>T (n.514+1275G>T) c.124G>T (n.124G>T) c.3639G>T (p.Arg1213=) c.3609G>T (p.Arg1203=) c.3735G>T (p.Arg1245=) c.3024G>T (p.Arg1008=) c.3597+736G>T (n.3597+736G>T) c.3547+1275G>T (n.3547+1275G>T) c.2961G>T (p.Arg987=) c.2928G>T (p.Arg976=) c.3141G>T (p.Arg1047=)
X	g.53235047C=	CA2429770678	IQSEC2	c.3798G= (p.Arg1266=) c.1453+736G= c.962+736G= c.316+1275G= (n.316+1275G=) c.514+1275G= (n.514+1275G=) c.124G= (n.124G=) c.3639G= (p.Arg1213=) c.3609G= (p.Arg1203=) c.3735G= (p.Arg1245=) c.3024G= (p.Arg1008=) c.3597+736G= (n.3597+736G=) c.3547+1275G= (n.3547+1275G=) c.2961G= (p.Arg987=) c.2928G= (p.Arg976=) c.3141G= (p.Arg1047=)
X	g.53235047C>G	CA516673861	IQSEC2	c.3798G>C (p.Arg1266=) c.1453+736G>C c.962+736G>C c.316+1275G>C (n.316+1275G>C) c.514+1275G>C (n.514+1275G>C) c.124G>C (n.124G>C) c.3639G>C (p.Arg1213=) c.3609G>C (p.Arg1203=) c.3735G>C (p.Arg1245=) c.3024G>C (p.Arg1008=) c.3597+736G>C (n.3597+736G>C) c.3547+1275G>C (n.3547+1275G>C) c.2961G>C (p.Arg987=) c.2928G>C (p.Arg976=) c.3141G>C (p.Arg1047=)
X	g.53235047C>T	CA516673863	IQSEC2	c.3798G>A (p.Arg1266=) c.1453+736G>A c.962+736G>A c.316+1275G>A (n.316+1275G>A) c.514+1275G>A (n.514+1275G>A) c.124G>A (n.124G>A) c.3639G>A (p.Arg1213=) c.3609G>A (p.Arg1203=) c.3735G>A (p.Arg1245=) c.3024G>A (p.Arg1008=) c.3597+736G>A (n.3597+736G>A) c.3547+1275G>A (n.3547+1275G>A) c.2961G>A (p.Arg987=) c.2928G>A (p.Arg976=) c.3141G>A (p.Arg1047=)	dbSNP gnomAD v3 gnomAD v4
X	g.53235048C>A	CA413141851	IQSEC2	c.3797G>T (p.Arg1266Leu) c.1453+735G>T c.962+735G>T c.316+1274G>T (n.316+1274G>T) c.514+1274G>T (n.514+1274G>T) c.123G>T (n.123G>T) c.3638G>T (p.Arg1213Leu) c.3608G>T (p.Arg1203Leu) c.3734G>T (p.Arg1245Leu) c.3023G>T (p.Arg1008Leu) c.3597+735G>T (n.3597+735G>T) c.3547+1274G>T (n.3547+1274G>T) c.2960G>T (p.Arg987Leu) c.2927G>T (p.Arg976Leu) c.3140G>T (p.Arg1047Leu)
X	g.53235048C=	CA2429770679	IQSEC2	c.3797G= (p.Arg1266=) c.1453+735G= c.962+735G= c.316+1274G= (n.316+1274G=) c.514+1274G= (n.514+1274G=) c.123G= (n.123G=) c.3638G= (p.Arg1213=) c.3608G= (p.Arg1203=) c.3734G= (p.Arg1245=) c.3023G= (p.Arg1008=) c.3597+735G= (n.3597+735G=) c.3547+1274G= (n.3547+1274G=) c.2960G= (p.Arg987=) c.2927G= (p.Arg976=) c.3140G= (p.Arg1047=)
X	g.53235048C>G	CA413141855	IQSEC2	c.3797G>C (p.Arg1266Pro) c.1453+735G>C c.962+735G>C c.316+1274G>C (n.316+1274G>C) c.514+1274G>C (n.514+1274G>C) c.123G>C (n.123G>C) c.3638G>C (p.Arg1213Pro) c.3608G>C (p.Arg1203Pro) c.3734G>C (p.Arg1245Pro) c.3023G>C (p.Arg1008Pro) c.3597+735G>C (n.3597+735G>C) c.3547+1274G>C (n.3547+1274G>C) c.2960G>C (p.Arg987Pro) c.2927G>C (p.Arg976Pro) c.3140G>C (p.Arg1047Pro)	ClinVar dbSNP
X	g.53235048C>T	CA413141858	IQSEC2	c.3797G>A (p.Arg1266Gln) c.1453+735G>A c.962+735G>A c.316+1274G>A (n.316+1274G>A) c.514+1274G>A (n.514+1274G>A) c.123G>A (n.123G>A) c.3638G>A (p.Arg1213Gln) c.3608G>A (p.Arg1203Gln) c.3734G>A (p.Arg1245Gln) c.3023G>A (p.Arg1008Gln) c.3597+735G>A (n.3597+735G>A) c.3547+1274G>A (n.3547+1274G>A) c.2960G>A (p.Arg987Gln) c.2927G>A (p.Arg976Gln) c.3140G>A (p.Arg1047Gln)	dbSNP gnomAD v2 gnomAD v4
X	g.53235049G>A	CA413141862	IQSEC2	c.3796C>T (p.Arg1266Trp) c.1453+734C>T c.962+734C>T c.316+1273C>T (n.316+1273C>T) c.514+1273C>T (n.514+1273C>T) c.122C>T (n.122C>T) c.3637C>T (p.Arg1213Trp) c.3607C>T (p.Arg1203Trp) c.3733C>T (p.Arg1245Trp) c.3022C>T (p.Arg1008Trp) c.3597+734C>T (n.3597+734C>T) c.3547+1273C>T (n.3547+1273C>T) c.2959C>T (p.Arg987Trp) c.2926C>T (p.Arg976Trp) c.3139C>T (p.Arg1047Trp)	dbSNP gnomAD v4
X	g.53235049G>C	CA413141865	IQSEC2	c.3796C>G (p.Arg1266Gly) c.1453+734C>G c.962+734C>G c.316+1273C>G (n.316+1273C>G) c.514+1273C>G (n.514+1273C>G) c.122C>G (n.122C>G) c.3637C>G (p.Arg1213Gly) c.3607C>G (p.Arg1203Gly) c.3733C>G (p.Arg1245Gly) c.3022C>G (p.Arg1008Gly) c.3597+734C>G (n.3597+734C>G) c.3547+1273C>G (n.3547+1273C>G) c.2959C>G (p.Arg987Gly) c.2926C>G (p.Arg976Gly) c.3139C>G (p.Arg1047Gly)
X	g.53235049G=	CA2429770680	IQSEC2	c.3796C= (p.Arg1266=) c.1453+734C= c.962+734C= c.316+1273C= (n.316+1273C=) c.514+1273C= (n.514+1273C=) c.122C= (n.122C=) c.3637C= (p.Arg1213=) c.3607C= (p.Arg1203=) c.3733C= (p.Arg1245=) c.3022C= (p.Arg1008=) c.3597+734C= (n.3597+734C=) c.3547+1273C= (n.3547+1273C=) c.2959C= (p.Arg987=) c.2926C= (p.Arg976=) c.3139C= (p.Arg1047=)
X	g.53235049G>T	CA516673868	IQSEC2	c.3796C>A (p.Arg1266=) c.1453+734C>A c.962+734C>A c.316+1273C>A (n.316+1273C>A) c.514+1273C>A (n.514+1273C>A) c.122C>A (n.122C>A) c.3637C>A (p.Arg1213=) c.3607C>A (p.Arg1203=) c.3733C>A (p.Arg1245=) c.3022C>A (p.Arg1008=) c.3597+734C>A (n.3597+734C>A) c.3547+1273C>A (n.3547+1273C>A) c.2959C>A (p.Arg987=) c.2926C>A (p.Arg976=) c.3139C>A (p.Arg1047=)	COSMIC COSMIC
X	g.53235050C>A	CA413141869	IQSEC2	c.3795G>T (p.Lys1265Asn) c.1453+733G>T c.962+733G>T c.316+1272G>T (n.316+1272G>T) c.514+1272G>T (n.514+1272G>T) c.121G>T (n.121G>T) c.3636G>T (p.Lys1212Asn) c.3606G>T (p.Lys1202Asn) c.3732G>T (p.Lys1244Asn) c.3021G>T (p.Lys1007Asn) c.3597+733G>T (n.3597+733G>T) c.3547+1272G>T (n.3547+1272G>T) c.2958G>T (p.Lys986Asn) c.2925G>T (p.Lys975Asn) c.3138G>T (p.Lys1046Asn)
X	g.53235050C=	CA2429770681	IQSEC2	c.3795G= (p.Lys1265=) c.1453+733G= c.962+733G= c.316+1272G= (n.316+1272G=) c.514+1272G= (n.514+1272G=) c.121G= (n.121G=) c.3636G= (p.Lys1212=) c.3606G= (p.Lys1202=) c.3732G= (p.Lys1244=) c.3021G= (p.Lys1007=) c.3597+733G= (n.3597+733G=) c.3547+1272G= (n.3547+1272G=) c.2958G= (p.Lys986=) c.2925G= (p.Lys975=) c.3138G= (p.Lys1046=)
X	g.53235050C>G	CA413141872	IQSEC2	c.3795G>C (p.Lys1265Asn) c.1453+733G>C c.962+733G>C c.316+1272G>C (n.316+1272G>C) c.514+1272G>C (n.514+1272G>C) c.121G>C (n.121G>C) c.3636G>C (p.Lys1212Asn) c.3606G>C (p.Lys1202Asn) c.3732G>C (p.Lys1244Asn) c.3021G>C (p.Lys1007Asn) c.3597+733G>C (n.3597+733G>C) c.3547+1272G>C (n.3547+1272G>C) c.2958G>C (p.Lys986Asn) c.2925G>C (p.Lys975Asn) c.3138G>C (p.Lys1046Asn)
X	g.53235050C>T	CA516673870	IQSEC2	c.3795G>A (p.Lys1265=) c.1453+733G>A c.962+733G>A c.316+1272G>A (n.316+1272G>A) c.514+1272G>A (n.514+1272G>A) c.121G>A (n.121G>A) c.3636G>A (p.Lys1212=) c.3606G>A (p.Lys1202=) c.3732G>A (p.Lys1244=) c.3021G>A (p.Lys1007=) c.3597+733G>A (n.3597+733G>A) c.3547+1272G>A (n.3547+1272G>A) c.2958G>A (p.Lys986=) c.2925G>A (p.Lys975=) c.3138G>A (p.Lys1046=)	dbSNP gnomAD v2 gnomAD v4
X	g.53235051T>A	CA413141876	IQSEC2	c.3794A>T (p.Lys1265Met) c.1453+732A>T c.962+732A>T c.316+1271A>T (n.316+1271A>T) c.514+1271A>T (n.514+1271A>T) c.120A>T (n.120A>T) c.3635A>T (p.Lys1212Met) c.3605A>T (p.Lys1202Met) c.3731A>T (p.Lys1244Met) c.3020A>T (p.Lys1007Met) c.3597+732A>T (n.3597+732A>T) c.3547+1271A>T (n.3547+1271A>T) c.2957A>T (p.Lys986Met) c.2924A>T (p.Lys975Met) c.3137A>T (p.Lys1046Met)
X	g.53235051T>C	CA10419782	IQSEC2	c.3794A>G (p.Lys1265Arg) c.1453+732A>G c.962+732A>G c.316+1271A>G (n.316+1271A>G) c.514+1271A>G (n.514+1271A>G) c.120A>G (n.120A>G) c.3635A>G (p.Lys1212Arg) c.3605A>G (p.Lys1202Arg) c.3731A>G (p.Lys1244Arg) c.3020A>G (p.Lys1007Arg) c.3597+732A>G (n.3597+732A>G) c.3547+1271A>G (n.3547+1271A>G) c.2957A>G (p.Lys986Arg) c.2924A>G (p.Lys975Arg) c.3137A>G (p.Lys1046Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
X	g.53235051T>G	CA413141882	IQSEC2	c.3794A>C (p.Lys1265Thr) c.1453+732A>C c.962+732A>C c.316+1271A>C (n.316+1271A>C) c.514+1271A>C (n.514+1271A>C) c.120A>C (n.120A>C) c.3635A>C (p.Lys1212Thr) c.3605A>C (p.Lys1202Thr) c.3731A>C (p.Lys1244Thr) c.3020A>C (p.Lys1007Thr) c.3597+732A>C (n.3597+732A>C) c.3547+1271A>C (n.3547+1271A>C) c.2957A>C (p.Lys986Thr) c.2924A>C (p.Lys975Thr) c.3137A>C (p.Lys1046Thr)
X	g.53235051T=	CA2429770682	IQSEC2	c.3794A= (p.Lys1265=) c.1453+732A= c.962+732A= c.316+1271A= (n.316+1271A=) c.514+1271A= (n.514+1271A=) c.120A= (n.120A=) c.3635A= (p.Lys1212=) c.3605A= (p.Lys1202=) c.3731A= (p.Lys1244=) c.3020A= (p.Lys1007=) c.3597+732A= (n.3597+732A=) c.3547+1271A= (n.3547+1271A=) c.2957A= (p.Lys986=) c.2924A= (p.Lys975=) c.3137A= (p.Lys1046=)
X	g.53235052T>A	CA413141892	IQSEC2	c.3793A>T (p.Lys1265Ter) c.1453+731A>T c.962+731A>T c.316+1270A>T (n.316+1270A>T) c.514+1270A>T (n.514+1270A>T) c.119A>T (n.119A>T) c.3634A>T (p.Lys1212Ter) c.3604A>T (p.Lys1202Ter) c.3730A>T (p.Lys1244Ter) c.3019A>T (p.Lys1007Ter) c.3597+731A>T (n.3597+731A>T) c.3547+1270A>T (n.3547+1270A>T) c.2956A>T (p.Lys986Ter) c.2923A>T (p.Lys975Ter) c.3136A>T (p.Lys1046Ter)
X	g.53235052T>C	CA413141889	IQSEC2	c.3793A>G (p.Lys1265Glu) c.1453+731A>G c.962+731A>G c.316+1270A>G (n.316+1270A>G) c.514+1270A>G (n.514+1270A>G) c.119A>G (n.119A>G) c.3634A>G (p.Lys1212Glu) c.3604A>G (p.Lys1202Glu) c.3730A>G (p.Lys1244Glu) c.3019A>G (p.Lys1007Glu) c.3597+731A>G (n.3597+731A>G) c.3547+1270A>G (n.3547+1270A>G) c.2956A>G (p.Lys986Glu) c.2923A>G (p.Lys975Glu) c.3136A>G (p.Lys1046Glu)
X	g.53235052T>G	CA413141887	IQSEC2	c.3793A>C (p.Lys1265Gln) c.1453+731A>C c.962+731A>C c.316+1270A>C (n.316+1270A>C) c.514+1270A>C (n.514+1270A>C) c.119A>C (n.119A>C) c.3634A>C (p.Lys1212Gln) c.3604A>C (p.Lys1202Gln) c.3730A>C (p.Lys1244Gln) c.3019A>C (p.Lys1007Gln) c.3597+731A>C (n.3597+731A>C) c.3547+1270A>C (n.3547+1270A>C) c.2956A>C (p.Lys986Gln) c.2923A>C (p.Lys975Gln) c.3136A>C (p.Lys1046Gln)
X	g.53235053G>A	CA516673874	IQSEC2	c.3792C>T (p.Ser1264=) c.1453+730C>T c.962+730C>T c.316+1269C>T (n.316+1269C>T) c.514+1269C>T (n.514+1269C>T) c.118C>T (n.118C>T) c.3633C>T (p.Ser1211=) c.3603C>T (p.Ser1201=) c.3729C>T (p.Ser1243=) c.3018C>T (p.Ser1006=) c.3597+730C>T (n.3597+730C>T) c.3547+1269C>T (n.3547+1269C>T) c.2955C>T (p.Ser985=) c.2922C>T (p.Ser974=) c.3135C>T (p.Ser1045=)
X	g.53235053G>C	CA413141893	IQSEC2	c.3792C>G (p.Ser1264Arg) c.1453+730C>G c.962+730C>G c.316+1269C>G (n.316+1269C>G) c.514+1269C>G (n.514+1269C>G) c.118C>G (n.118C>G) c.3633C>G (p.Ser1211Arg) c.3603C>G (p.Ser1201Arg) c.3729C>G (p.Ser1243Arg) c.3018C>G (p.Ser1006Arg) c.3597+730C>G (n.3597+730C>G) c.3547+1269C>G (n.3547+1269C>G) c.2955C>G (p.Ser985Arg) c.2922C>G (p.Ser974Arg) c.3135C>G (p.Ser1045Arg)
X	g.53235053G>T	CA413141897	IQSEC2	c.3792C>A (p.Ser1264Arg) c.1453+730C>A c.962+730C>A c.316+1269C>A (n.316+1269C>A) c.514+1269C>A (n.514+1269C>A) c.118C>A (n.118C>A) c.3633C>A (p.Ser1211Arg) c.3603C>A (p.Ser1201Arg) c.3729C>A (p.Ser1243Arg) c.3018C>A (p.Ser1006Arg) c.3597+730C>A (n.3597+730C>A) c.3547+1269C>A (n.3547+1269C>A) c.2955C>A (p.Ser985Arg) c.2922C>A (p.Ser974Arg) c.3135C>A (p.Ser1045Arg)
X	g.53235054C>A	CA413141901	IQSEC2	c.3791G>T (p.Ser1264Ile) c.1453+729G>T c.962+729G>T c.316+1268G>T (n.316+1268G>T) c.514+1268G>T (n.514+1268G>T) c.117G>T (n.117G>T) c.3632G>T (p.Ser1211Ile) c.3602G>T (p.Ser1201Ile) c.3728G>T (p.Ser1243Ile) c.3017G>T (p.Ser1006Ile) c.3597+729G>T (n.3597+729G>T) c.3547+1268G>T (n.3547+1268G>T) c.2954G>T (p.Ser985Ile) c.2921G>T (p.Ser974Ile) c.3134G>T (p.Ser1045Ile)
X	g.53235054C>G	CA413141904	IQSEC2	c.3791G>C (p.Ser1264Thr) c.1453+729G>C c.962+729G>C c.316+1268G>C (n.316+1268G>C) c.514+1268G>C (n.514+1268G>C) c.117G>C (n.117G>C) c.3632G>C (p.Ser1211Thr) c.3602G>C (p.Ser1201Thr) c.3728G>C (p.Ser1243Thr) c.3017G>C (p.Ser1006Thr) c.3597+729G>C (n.3597+729G>C) c.3547+1268G>C (n.3547+1268G>C) c.2954G>C (p.Ser985Thr) c.2921G>C (p.Ser974Thr) c.3134G>C (p.Ser1045Thr)
X	g.53235054C>T	CA413141908	IQSEC2	c.3791G>A (p.Ser1264Asn) c.1453+729G>A c.962+729G>A c.316+1268G>A (n.316+1268G>A) c.514+1268G>A (n.514+1268G>A) c.117G>A (n.117G>A) c.3632G>A (p.Ser1211Asn) c.3602G>A (p.Ser1201Asn) c.3728G>A (p.Ser1243Asn) c.3017G>A (p.Ser1006Asn) c.3597+729G>A (n.3597+729G>A) c.3547+1268G>A (n.3547+1268G>A) c.2954G>A (p.Ser985Asn) c.2921G>A (p.Ser974Asn) c.3134G>A (p.Ser1045Asn)
X	g.53235055T>A	CA413141911	IQSEC2	c.3790A>T (p.Ser1264Cys) c.1453+728A>T c.962+728A>T c.316+1267A>T (n.316+1267A>T) c.514+1267A>T (n.514+1267A>T) c.116A>T (n.116A>T) c.3631A>T (p.Ser1211Cys) c.3601A>T (p.Ser1201Cys) c.3727A>T (p.Ser1243Cys) c.3016A>T (p.Ser1006Cys) c.3597+728A>T (n.3597+728A>T) c.3547+1267A>T (n.3547+1267A>T) c.2953A>T (p.Ser985Cys) c.2920A>T (p.Ser974Cys) c.3133A>T (p.Ser1045Cys)
X	g.53235055T>C	CA413141914	IQSEC2	c.3790A>G (p.Ser1264Gly) c.1453+728A>G c.962+728A>G c.316+1267A>G (n.316+1267A>G) c.514+1267A>G (n.514+1267A>G) c.116A>G (n.116A>G) c.3631A>G (p.Ser1211Gly) c.3601A>G (p.Ser1201Gly) c.3727A>G (p.Ser1243Gly) c.3016A>G (p.Ser1006Gly) c.3597+728A>G (n.3597+728A>G) c.3547+1267A>G (n.3547+1267A>G) c.2953A>G (p.Ser985Gly) c.2920A>G (p.Ser974Gly) c.3133A>G (p.Ser1045Gly)	gnomAD v3 gnomAD v4
X	g.53235055T>G	CA413141917	IQSEC2	c.3790A>C (p.Ser1264Arg) c.1453+728A>C c.962+728A>C c.316+1267A>C (n.316+1267A>C) c.514+1267A>C (n.514+1267A>C) c.116A>C (n.116A>C) c.3631A>C (p.Ser1211Arg) c.3601A>C (p.Ser1201Arg) c.3727A>C (p.Ser1243Arg) c.3016A>C (p.Ser1006Arg) c.3597+728A>C (n.3597+728A>C) c.3547+1267A>C (n.3547+1267A>C) c.2953A>C (p.Ser985Arg) c.2920A>C (p.Ser974Arg) c.3133A>C (p.Ser1045Arg)
X	g.53235056T>A	CA516673878	IQSEC2	c.3789A>T (p.Gly1263=) c.1453+727A>T c.962+727A>T c.316+1266A>T (n.316+1266A>T) c.514+1266A>T (n.514+1266A>T) c.115A>T (n.115A>T) c.3630A>T (p.Gly1210=) c.3600A>T (p.Gly1200=) c.3726A>T (p.Gly1242=) c.3015A>T (p.Gly1005=) c.3597+727A>T (n.3597+727A>T) c.3547+1266A>T (n.3547+1266A>T) c.2952A>T (p.Gly984=) c.2919A>T (p.Gly973=) c.3132A>T (p.Gly1044=)
X	g.53235056T>C	CA516673879	IQSEC2	c.3789A>G (p.Gly1263=) c.1453+727A>G c.962+727A>G c.316+1266A>G (n.316+1266A>G) c.514+1266A>G (n.514+1266A>G) c.115A>G (n.115A>G) c.3630A>G (p.Gly1210=) c.3600A>G (p.Gly1200=) c.3726A>G (p.Gly1242=) c.3015A>G (p.Gly1005=) c.3597+727A>G (n.3597+727A>G) c.3547+1266A>G (n.3547+1266A>G) c.2952A>G (p.Gly984=) c.2919A>G (p.Gly973=) c.3132A>G (p.Gly1044=)
X	g.53235056T>G	CA516673880	IQSEC2	c.3789A>C (p.Gly1263=) c.1453+727A>C c.962+727A>C c.316+1266A>C (n.316+1266A>C) c.514+1266A>C (n.514+1266A>C) c.115A>C (n.115A>C) c.3630A>C (p.Gly1210=) c.3600A>C (p.Gly1200=) c.3726A>C (p.Gly1242=) c.3015A>C (p.Gly1005=) c.3597+727A>C (n.3597+727A>C) c.3547+1266A>C (n.3547+1266A>C) c.2952A>C (p.Gly984=) c.2919A>C (p.Gly973=) c.3132A>C (p.Gly1044=)
X	g.53235057C>A	CA413141919	IQSEC2	c.3788G>T (p.Gly1263Val) c.1453+726G>T c.962+726G>T c.316+1265G>T (n.316+1265G>T) c.514+1265G>T (n.514+1265G>T) c.114G>T (n.114G>T) c.3629G>T (p.Gly1210Val) c.3599G>T (p.Gly1200Val) c.3725G>T (p.Gly1242Val) c.3014G>T (p.Gly1005Val) c.3597+726G>T (n.3597+726G>T) c.3547+1265G>T (n.3547+1265G>T) c.2951G>T (p.Gly984Val) c.2918G>T (p.Gly973Val) c.3131G>T (p.Gly1044Val)
X	g.53235057C>G	CA413141922	IQSEC2	c.3788G>C (p.Gly1263Ala) c.1453+726G>C c.962+726G>C c.316+1265G>C (n.316+1265G>C) c.514+1265G>C (n.514+1265G>C) c.114G>C (n.114G>C) c.3629G>C (p.Gly1210Ala) c.3599G>C (p.Gly1200Ala) c.3725G>C (p.Gly1242Ala) c.3014G>C (p.Gly1005Ala) c.3597+726G>C (n.3597+726G>C) c.3547+1265G>C (n.3547+1265G>C) c.2951G>C (p.Gly984Ala) c.2918G>C (p.Gly973Ala) c.3131G>C (p.Gly1044Ala)
X	g.53235057C>T	CA413141926	IQSEC2	c.3788G>A (p.Gly1263Glu) c.1453+726G>A c.962+726G>A c.316+1265G>A (n.316+1265G>A) c.514+1265G>A (n.514+1265G>A) c.114G>A (n.114G>A) c.3629G>A (p.Gly1210Glu) c.3599G>A (p.Gly1200Glu) c.3725G>A (p.Gly1242Glu) c.3014G>A (p.Gly1005Glu) c.3597+726G>A (n.3597+726G>A) c.3547+1265G>A (n.3547+1265G>A) c.2951G>A (p.Gly984Glu) c.2918G>A (p.Gly973Glu) c.3131G>A (p.Gly1044Glu)
X	g.53235058C>A	CA413141933	IQSEC2	c.3787G>T (p.Gly1263Ter) c.1453+725G>T c.962+725G>T c.316+1264G>T (n.316+1264G>T) c.514+1264G>T (n.514+1264G>T) c.113G>T (n.113G>T) c.3628G>T (p.Gly1210Ter) c.3598G>T (p.Gly1200Ter) c.3724G>T (p.Gly1242Ter) c.3013G>T (p.Gly1005Ter) c.3597+725G>T (n.3597+725G>T) c.3547+1264G>T (n.3547+1264G>T) c.2950G>T (p.Gly984Ter) c.2917G>T (p.Gly973Ter) c.3130G>T (p.Gly1044Ter)
X	g.53235058C>G	CA413141935	IQSEC2	c.3787G>C (p.Gly1263Arg) c.1453+725G>C c.962+725G>C c.316+1264G>C (n.316+1264G>C) c.514+1264G>C (n.514+1264G>C) c.113G>C (n.113G>C) c.3628G>C (p.Gly1210Arg) c.3598G>C (p.Gly1200Arg) c.3724G>C (p.Gly1242Arg) c.3013G>C (p.Gly1005Arg) c.3597+725G>C (n.3597+725G>C) c.3547+1264G>C (n.3547+1264G>C) c.2950G>C (p.Gly984Arg) c.2917G>C (p.Gly973Arg) c.3130G>C (p.Gly1044Arg)
X	g.53235058C>T	CA413141929	IQSEC2	c.3787G>A (p.Gly1263Arg) c.1453+725G>A c.962+725G>A c.316+1264G>A (n.316+1264G>A) c.514+1264G>A (n.514+1264G>A) c.113G>A (n.113G>A) c.3628G>A (p.Gly1210Arg) c.3598G>A (p.Gly1200Arg) c.3724G>A (p.Gly1242Arg) c.3013G>A (p.Gly1005Arg) c.3597+725G>A (n.3597+725G>A) c.3547+1264G>A (n.3547+1264G>A) c.2950G>A (p.Gly984Arg) c.2917G>A (p.Gly973Arg) c.3130G>A (p.Gly1044Arg)
X	g.53235059A>C	CA413141939	IQSEC2	c.3786T>G (p.Phe1262Leu) c.1453+724T>G c.962+724T>G c.316+1263T>G (n.316+1263T>G) c.514+1263T>G (n.514+1263T>G) c.112T>G (n.112T>G) c.3627T>G (p.Phe1209Leu) c.3597T>G (p.Phe1199Leu) c.3723T>G (p.Phe1241Leu) c.3012T>G (p.Phe1004Leu) c.3597+724T>G (n.3597+724T>G) c.3547+1263T>G (n.3547+1263T>G) c.2949T>G (p.Phe983Leu) c.2916T>G (p.Phe972Leu) c.3129T>G (p.Phe1043Leu)
X	g.53235059A>G	CA516673883	IQSEC2	c.3786T>C (p.Phe1262=) c.1453+724T>C c.962+724T>C c.316+1263T>C (n.316+1263T>C) c.514+1263T>C (n.514+1263T>C) c.112T>C (n.112T>C) c.3627T>C (p.Phe1209=) c.3597T>C (p.Phe1199=) c.3723T>C (p.Phe1241=) c.3012T>C (p.Phe1004=) c.3597+724T>C (n.3597+724T>C) c.3547+1263T>C (n.3547+1263T>C) c.2949T>C (p.Phe983=) c.2916T>C (p.Phe972=) c.3129T>C (p.Phe1043=)
X	g.53235059A>T	CA413141941	IQSEC2	c.3786T>A (p.Phe1262Leu) c.1453+724T>A c.962+724T>A c.316+1263T>A (n.316+1263T>A) c.514+1263T>A (n.514+1263T>A) c.112T>A (n.112T>A) c.3627T>A (p.Phe1209Leu) c.3597T>A (p.Phe1199Leu) c.3723T>A (p.Phe1241Leu) c.3012T>A (p.Phe1004Leu) c.3597+724T>A (n.3597+724T>A) c.3547+1263T>A (n.3547+1263T>A) c.2949T>A (p.Phe983Leu) c.2916T>A (p.Phe972Leu) c.3129T>A (p.Phe1043Leu)
X	g.53235060A>C	CA413141944	IQSEC2	c.3785T>G (p.Phe1262Cys) c.1453+723T>G c.962+723T>G c.316+1262T>G (n.316+1262T>G) c.514+1262T>G (n.514+1262T>G) c.111T>G (n.111T>G) c.3626T>G (p.Phe1209Cys) c.3596T>G (p.Phe1199Cys) c.3722T>G (p.Phe1241Cys) c.3011T>G (p.Phe1004Cys) c.3597+723T>G (n.3597+723T>G) c.3547+1262T>G (n.3547+1262T>G) c.2948T>G (p.Phe983Cys) c.2915T>G (p.Phe972Cys) c.3128T>G (p.Phe1043Cys)
X	g.53235060A>G	CA413141947	IQSEC2	c.3785T>C (p.Phe1262Ser) c.1453+723T>C c.962+723T>C c.316+1262T>C (n.316+1262T>C) c.514+1262T>C (n.514+1262T>C) c.111T>C (n.111T>C) c.3626T>C (p.Phe1209Ser) c.3596T>C (p.Phe1199Ser) c.3722T>C (p.Phe1241Ser) c.3011T>C (p.Phe1004Ser) c.3597+723T>C (n.3597+723T>C) c.3547+1262T>C (n.3547+1262T>C) c.2948T>C (p.Phe983Ser) c.2915T>C (p.Phe972Ser) c.3128T>C (p.Phe1043Ser)
X	g.53235060A>T	CA413141950	IQSEC2	c.3785T>A (p.Phe1262Tyr) c.1453+723T>A c.962+723T>A c.316+1262T>A (n.316+1262T>A) c.514+1262T>A (n.514+1262T>A) c.111T>A (n.111T>A) c.3626T>A (p.Phe1209Tyr) c.3596T>A (p.Phe1199Tyr) c.3722T>A (p.Phe1241Tyr) c.3011T>A (p.Phe1004Tyr) c.3597+723T>A (n.3597+723T>A) c.3547+1262T>A (n.3547+1262T>A) c.2948T>A (p.Phe983Tyr) c.2915T>A (p.Phe972Tyr) c.3128T>A (p.Phe1043Tyr)
X	g.53235061A>C	CA413141959	IQSEC2	c.3784T>G (p.Phe1262Val) c.1453+722T>G c.962+722T>G c.316+1261T>G (n.316+1261T>G) c.514+1261T>G (n.514+1261T>G) c.110T>G (n.110T>G) c.3625T>G (p.Phe1209Val) c.3595T>G (p.Phe1199Val) c.3721T>G (p.Phe1241Val) c.3010T>G (p.Phe1004Val) c.3597+722T>G (n.3597+722T>G) c.3547+1261T>G (n.3547+1261T>G) c.2947T>G (p.Phe983Val) c.2914T>G (p.Phe972Val) c.3127T>G (p.Phe1043Val)
X	g.53235061A>G	CA413141954	IQSEC2	c.3784T>C (p.Phe1262Leu) c.1453+722T>C c.962+722T>C c.316+1261T>C (n.316+1261T>C) c.514+1261T>C (n.514+1261T>C) c.110T>C (n.110T>C) c.3625T>C (p.Phe1209Leu) c.3595T>C (p.Phe1199Leu) c.3721T>C (p.Phe1241Leu) c.3010T>C (p.Phe1004Leu) c.3597+722T>C (n.3597+722T>C) c.3547+1261T>C (n.3547+1261T>C) c.2947T>C (p.Phe983Leu) c.2914T>C (p.Phe972Leu) c.3127T>C (p.Phe1043Leu)
X	g.53235061A>T	CA413141956	IQSEC2	c.3784T>A (p.Phe1262Ile) c.1453+722T>A c.962+722T>A c.316+1261T>A (n.316+1261T>A) c.514+1261T>A (n.514+1261T>A) c.110T>A (n.110T>A) c.3625T>A (p.Phe1209Ile) c.3595T>A (p.Phe1199Ile) c.3721T>A (p.Phe1241Ile) c.3010T>A (p.Phe1004Ile) c.3597+722T>A (n.3597+722T>A) c.3547+1261T>A (n.3547+1261T>A) c.2947T>A (p.Phe983Ile) c.2914T>A (p.Phe972Ile) c.3127T>A (p.Phe1043Ile)
X	g.53235062T>A	CA516673889	IQSEC2	c.3783A>T (p.Leu1261=) c.1453+721A>T c.962+721A>T c.316+1260A>T (n.316+1260A>T) c.514+1260A>T (n.514+1260A>T) c.109A>T (n.109A>T) c.3624A>T (p.Leu1208=) c.3594A>T (p.Leu1198=) c.3720A>T (p.Leu1240=) c.3009A>T (p.Leu1003=) c.3597+721A>T (n.3597+721A>T) c.3547+1260A>T (n.3547+1260A>T) c.2946A>T (p.Leu982=) c.2913A>T (p.Leu971=) c.3126A>T (p.Leu1042=)
X	g.53235062T>C	CA516673890	IQSEC2	c.3783A>G (p.Leu1261=) c.1453+721A>G c.962+721A>G c.316+1260A>G (n.316+1260A>G) c.514+1260A>G (n.514+1260A>G) c.109A>G (n.109A>G) c.3624A>G (p.Leu1208=) c.3594A>G (p.Leu1198=) c.3720A>G (p.Leu1240=) c.3009A>G (p.Leu1003=) c.3597+721A>G (n.3597+721A>G) c.3547+1260A>G (n.3547+1260A>G) c.2946A>G (p.Leu982=) c.2913A>G (p.Leu971=) c.3126A>G (p.Leu1042=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
X	g.53235062T>G	CA516673891	IQSEC2	c.3783A>C (p.Leu1261=) c.1453+721A>C c.962+721A>C c.316+1260A>C (n.316+1260A>C) c.514+1260A>C (n.514+1260A>C) c.109A>C (n.109A>C) c.3624A>C (p.Leu1208=) c.3594A>C (p.Leu1198=) c.3720A>C (p.Leu1240=) c.3009A>C (p.Leu1003=) c.3597+721A>C (n.3597+721A>C) c.3547+1260A>C (n.3547+1260A>C) c.2946A>C (p.Leu982=) c.2913A>C (p.Leu971=) c.3126A>C (p.Leu1042=)
X	g.53235062T=	CA2429770683	IQSEC2	c.3783A= (p.Leu1261=) c.1453+721A= c.962+721A= c.316+1260A= (n.316+1260A=) c.514+1260A= (n.514+1260A=) c.109A= (n.109A=) c.3624A= (p.Leu1208=) c.3594A= (p.Leu1198=) c.3720A= (p.Leu1240=) c.3009A= (p.Leu1003=) c.3597+721A= (n.3597+721A=) c.3547+1260A= (n.3547+1260A=) c.2946A= (p.Leu982=) c.2913A= (p.Leu971=) c.3126A= (p.Leu1042=)
X	g.53235063A>C	CA413141963	IQSEC2	c.3782T>G (p.Leu1261Arg) c.1453+720T>G c.962+720T>G c.316+1259T>G (n.316+1259T>G) c.514+1259T>G (n.514+1259T>G) c.108T>G (n.108T>G) c.3623T>G (p.Leu1208Arg) c.3593T>G (p.Leu1198Arg) c.3719T>G (p.Leu1240Arg) c.3008T>G (p.Leu1003Arg) c.3597+720T>G (n.3597+720T>G) c.3547+1259T>G (n.3547+1259T>G) c.2945T>G (p.Leu982Arg) c.2912T>G (p.Leu971Arg) c.3125T>G (p.Leu1042Arg)
X	g.53235063A>G	CA413141965	IQSEC2	c.3782T>C (p.Leu1261Pro) c.1453+720T>C c.962+720T>C c.316+1259T>C (n.316+1259T>C) c.514+1259T>C (n.514+1259T>C) c.108T>C (n.108T>C) c.3623T>C (p.Leu1208Pro) c.3593T>C (p.Leu1198Pro) c.3719T>C (p.Leu1240Pro) c.3008T>C (p.Leu1003Pro) c.3597+720T>C (n.3597+720T>C) c.3547+1259T>C (n.3547+1259T>C) c.2945T>C (p.Leu982Pro) c.2912T>C (p.Leu971Pro) c.3125T>C (p.Leu1042Pro)
X	g.53235063A>T	CA413141967	IQSEC2	c.3782T>A (p.Leu1261Gln) c.1453+720T>A c.962+720T>A c.316+1259T>A (n.316+1259T>A) c.514+1259T>A (n.514+1259T>A) c.108T>A (n.108T>A) c.3623T>A (p.Leu1208Gln) c.3593T>A (p.Leu1198Gln) c.3719T>A (p.Leu1240Gln) c.3008T>A (p.Leu1003Gln) c.3597+720T>A (n.3597+720T>A) c.3547+1259T>A (n.3547+1259T>A) c.2945T>A (p.Leu982Gln) c.2912T>A (p.Leu971Gln) c.3125T>A (p.Leu1042Gln)
X	g.53235064G>A	CA516673896	IQSEC2	c.3781C>T (p.Leu1261=) c.1453+719C>T c.962+719C>T c.316+1258C>T (n.316+1258C>T) c.514+1258C>T (n.514+1258C>T) c.107C>T (n.107C>T) c.3622C>T (p.Leu1208=) c.3592C>T (p.Leu1198=) c.3718C>T (p.Leu1240=) c.3007C>T (p.Leu1003=) c.3597+719C>T (n.3597+719C>T) c.3547+1258C>T (n.3547+1258C>T) c.2944C>T (p.Leu982=) c.2911C>T (p.Leu971=) c.3124C>T (p.Leu1042=)	gnomAD v4
X	g.53235064G>C	CA413141973	IQSEC2	c.3781C>G (p.Leu1261Val) c.1453+719C>G c.962+719C>G c.316+1258C>G (n.316+1258C>G) c.514+1258C>G (n.514+1258C>G) c.107C>G (n.107C>G) c.3622C>G (p.Leu1208Val) c.3592C>G (p.Leu1198Val) c.3718C>G (p.Leu1240Val) c.3007C>G (p.Leu1003Val) c.3597+719C>G (n.3597+719C>G) c.3547+1258C>G (n.3547+1258C>G) c.2944C>G (p.Leu982Val) c.2911C>G (p.Leu971Val) c.3124C>G (p.Leu1042Val)
X	g.53235064G>T	CA413141986	IQSEC2	c.3781C>A (p.Leu1261Ile) c.1453+719C>A c.962+719C>A c.316+1258C>A (n.316+1258C>A) c.514+1258C>A (n.514+1258C>A) c.107C>A (n.107C>A) c.3622C>A (p.Leu1208Ile) c.3592C>A (p.Leu1198Ile) c.3718C>A (p.Leu1240Ile) c.3007C>A (p.Leu1003Ile) c.3597+719C>A (n.3597+719C>A) c.3547+1258C>A (n.3547+1258C>A) c.2944C>A (p.Leu982Ile) c.2911C>A (p.Leu971Ile) c.3124C>A (p.Leu1042Ile)
X	g.53235065G>A	CA516673897	IQSEC2	c.3780C>T (p.Ser1260=) c.1453+718C>T c.962+718C>T c.316+1257C>T (n.316+1257C>T) c.514+1257C>T (n.514+1257C>T) c.106C>T (n.106C>T) c.3621C>T (p.Ser1207=) c.3591C>T (p.Ser1197=) c.3717C>T (p.Ser1239=) c.3006C>T (p.Ser1002=) c.3597+718C>T (n.3597+718C>T) c.3547+1257C>T (n.3547+1257C>T) c.2943C>T (p.Ser981=) c.2910C>T (p.Ser970=) c.3123C>T (p.Ser1041=)	ClinVar gnomAD v4
X	g.53235065G>C	CA516673898	IQSEC2	c.3780C>G (p.Ser1260=) c.1453+718C>G c.962+718C>G c.316+1257C>G (n.316+1257C>G) c.514+1257C>G (n.514+1257C>G) c.106C>G (n.106C>G) c.3621C>G (p.Ser1207=) c.3591C>G (p.Ser1197=) c.3717C>G (p.Ser1239=) c.3006C>G (p.Ser1002=) c.3597+718C>G (n.3597+718C>G) c.3547+1257C>G (n.3547+1257C>G) c.2943C>G (p.Ser981=) c.2910C>G (p.Ser970=) c.3123C>G (p.Ser1041=)
X	g.53235065G>T	CA516673899	IQSEC2	c.3780C>A (p.Ser1260=) c.1453+718C>A c.962+718C>A c.316+1257C>A (n.316+1257C>A) c.514+1257C>A (n.514+1257C>A) c.106C>A (n.106C>A) c.3621C>A (p.Ser1207=) c.3591C>A (p.Ser1197=) c.3717C>A (p.Ser1239=) c.3006C>A (p.Ser1002=) c.3597+718C>A (n.3597+718C>A) c.3547+1257C>A (n.3547+1257C>A) c.2943C>A (p.Ser981=) c.2910C>A (p.Ser970=) c.3123C>A (p.Ser1041=)
X	g.53235066G>A	CA413141991	IQSEC2	c.3779C>T (p.Ser1260Phe) c.1453+717C>T c.962+717C>T c.316+1256C>T (n.316+1256C>T) c.514+1256C>T (n.514+1256C>T) c.105C>T (n.105C>T) c.3620C>T (p.Ser1207Phe) c.3590C>T (p.Ser1197Phe) c.3716C>T (p.Ser1239Phe) c.3005C>T (p.Ser1002Phe) c.3597+717C>T (n.3597+717C>T) c.3547+1256C>T (n.3547+1256C>T) c.2942C>T (p.Ser981Phe) c.2909C>T (p.Ser970Phe) c.3122C>T (p.Ser1041Phe)
X	g.53235066G>C	CA413141997	IQSEC2	c.3779C>G (p.Ser1260Cys) c.1453+717C>G c.962+717C>G c.316+1256C>G (n.316+1256C>G) c.514+1256C>G (n.514+1256C>G) c.105C>G (n.105C>G) c.3620C>G (p.Ser1207Cys) c.3590C>G (p.Ser1197Cys) c.3716C>G (p.Ser1239Cys) c.3005C>G (p.Ser1002Cys) c.3597+717C>G (n.3597+717C>G) c.3547+1256C>G (n.3547+1256C>G) c.2942C>G (p.Ser981Cys) c.2909C>G (p.Ser970Cys) c.3122C>G (p.Ser1041Cys)
X	g.53235066G>T	CA413141994	IQSEC2	c.3779C>A (p.Ser1260Tyr) c.1453+717C>A c.962+717C>A c.316+1256C>A (n.316+1256C>A) c.514+1256C>A (n.514+1256C>A) c.105C>A (n.105C>A) c.3620C>A (p.Ser1207Tyr) c.3590C>A (p.Ser1197Tyr) c.3716C>A (p.Ser1239Tyr) c.3005C>A (p.Ser1002Tyr) c.3597+717C>A (n.3597+717C>A) c.3547+1256C>A (n.3547+1256C>A) c.2942C>A (p.Ser981Tyr) c.2909C>A (p.Ser970Tyr) c.3122C>A (p.Ser1041Tyr)
X	g.53235067A>C	CA413142001	IQSEC2	c.3778T>G (p.Ser1260Ala) c.1453+716T>G c.962+716T>G c.316+1255T>G (n.316+1255T>G) c.514+1255T>G (n.514+1255T>G) c.104T>G (n.104T>G) c.3619T>G (p.Ser1207Ala) c.3589T>G (p.Ser1197Ala) c.3715T>G (p.Ser1239Ala) c.3004T>G (p.Ser1002Ala) c.3597+716T>G (n.3597+716T>G) c.3547+1255T>G (n.3547+1255T>G) c.2941T>G (p.Ser981Ala) c.2908T>G (p.Ser970Ala) c.3121T>G (p.Ser1041Ala)
X	g.53235067A>G	CA413142004	IQSEC2	c.3778T>C (p.Ser1260Pro) c.1453+716T>C c.962+716T>C c.316+1255T>C (n.316+1255T>C) c.514+1255T>C (n.514+1255T>C) c.104T>C (n.104T>C) c.3619T>C (p.Ser1207Pro) c.3589T>C (p.Ser1197Pro) c.3715T>C (p.Ser1239Pro) c.3004T>C (p.Ser1002Pro) c.3597+716T>C (n.3597+716T>C) c.3547+1255T>C (n.3547+1255T>C) c.2941T>C (p.Ser981Pro) c.2908T>C (p.Ser970Pro) c.3121T>C (p.Ser1041Pro)
X	g.53235067A>T	CA413142007	IQSEC2	c.3778T>A (p.Ser1260Thr) c.1453+716T>A c.962+716T>A c.316+1255T>A (n.316+1255T>A) c.514+1255T>A (n.514+1255T>A) c.104T>A (n.104T>A) c.3619T>A (p.Ser1207Thr) c.3589T>A (p.Ser1197Thr) c.3715T>A (p.Ser1239Thr) c.3004T>A (p.Ser1002Thr) c.3597+716T>A (n.3597+716T>A) c.3547+1255T>A (n.3547+1255T>A) c.2941T>A (p.Ser981Thr) c.2908T>A (p.Ser970Thr) c.3121T>A (p.Ser1041Thr)
X	g.53235068G>A	CA516673904	IQSEC2	c.3777C>T (p.Gly1259=) c.1453+715C>T c.962+715C>T c.316+1254C>T (n.316+1254C>T) c.514+1254C>T (n.514+1254C>T) c.103C>T (n.103C>T) c.3618C>T (p.Gly1206=) c.3588C>T (p.Gly1196=) c.3714C>T (p.Gly1238=) c.3003C>T (p.Gly1001=) c.3597+715C>T (n.3597+715C>T) c.3547+1254C>T (n.3547+1254C>T) c.2940C>T (p.Gly980=) c.2907C>T (p.Gly969=) c.3120C>T (p.Gly1040=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235068G>C	CA516673905	IQSEC2	c.3777C>G (p.Gly1259=) c.1453+715C>G c.962+715C>G c.316+1254C>G (n.316+1254C>G) c.514+1254C>G (n.514+1254C>G) c.103C>G (n.103C>G) c.3618C>G (p.Gly1206=) c.3588C>G (p.Gly1196=) c.3714C>G (p.Gly1238=) c.3003C>G (p.Gly1001=) c.3597+715C>G (n.3597+715C>G) c.3547+1254C>G (n.3547+1254C>G) c.2940C>G (p.Gly980=) c.2907C>G (p.Gly969=) c.3120C>G (p.Gly1040=)
X	g.53235068G=	CA2429770684	IQSEC2	c.3777C= (p.Gly1259=) c.1453+715C= c.962+715C= c.316+1254C= (n.316+1254C=) c.514+1254C= (n.514+1254C=) c.103C= (n.103C=) c.3618C= (p.Gly1206=) c.3588C= (p.Gly1196=) c.3714C= (p.Gly1238=) c.3003C= (p.Gly1001=) c.3597+715C= (n.3597+715C=) c.3547+1254C= (n.3547+1254C=) c.2940C= (p.Gly980=) c.2907C= (p.Gly969=) c.3120C= (p.Gly1040=)
X	g.53235068G>T	CA516673906	IQSEC2	c.3777C>A (p.Gly1259=) c.1453+715C>A c.962+715C>A c.316+1254C>A (n.316+1254C>A) c.514+1254C>A (n.514+1254C>A) c.103C>A (n.103C>A) c.3618C>A (p.Gly1206=) c.3588C>A (p.Gly1196=) c.3714C>A (p.Gly1238=) c.3003C>A (p.Gly1001=) c.3597+715C>A (n.3597+715C>A) c.3547+1254C>A (n.3547+1254C>A) c.2940C>A (p.Gly980=) c.2907C>A (p.Gly969=) c.3120C>A (p.Gly1040=)	gnomAD v4
X	g.53235069C>A	CA413142012	IQSEC2	c.3776G>T (p.Gly1259Val) c.1453+714G>T c.962+714G>T c.316+1253G>T (n.316+1253G>T) c.514+1253G>T (n.514+1253G>T) c.102G>T (n.102G>T) c.3617G>T (p.Gly1206Val) c.3587G>T (p.Gly1196Val) c.3713G>T (p.Gly1238Val) c.3002G>T (p.Gly1001Val) c.3597+714G>T (n.3597+714G>T) c.3547+1253G>T (n.3547+1253G>T) c.2939G>T (p.Gly980Val) c.2906G>T (p.Gly969Val) c.3119G>T (p.Gly1040Val)	gnomAD v4
X	g.53235069C=	CA2429770685	IQSEC2	c.3776G= (p.Gly1259=) c.1453+714G= c.962+714G= c.316+1253G= (n.316+1253G=) c.514+1253G= (n.514+1253G=) c.102G= (n.102G=) c.3617G= (p.Gly1206=) c.3587G= (p.Gly1196=) c.3713G= (p.Gly1238=) c.3002G= (p.Gly1001=) c.3597+714G= (n.3597+714G=) c.3547+1253G= (n.3547+1253G=) c.2939G= (p.Gly980=) c.2906G= (p.Gly969=) c.3119G= (p.Gly1040=)
X	g.53235069C>G	CA209619	IQSEC2	c.3776G>C (p.Gly1259Ala) c.1453+714G>C c.962+714G>C c.316+1253G>C (n.316+1253G>C) c.514+1253G>C (n.514+1253G>C) c.102G>C (n.102G>C) c.3617G>C (p.Gly1206Ala) c.3587G>C (p.Gly1196Ala) c.3713G>C (p.Gly1238Ala) c.3002G>C (p.Gly1001Ala) c.3597+714G>C (n.3597+714G>C) c.3547+1253G>C (n.3547+1253G>C) c.2939G>C (p.Gly980Ala) c.2906G>C (p.Gly969Ala) c.3119G>C (p.Gly1040Ala)	ClinVar dbSNP gnomAD v4
X	g.53235069C>T	CA413142019	IQSEC2	c.3776G>A (p.Gly1259Asp) c.1453+714G>A c.962+714G>A c.316+1253G>A (n.316+1253G>A) c.514+1253G>A (n.514+1253G>A) c.102G>A (n.102G>A) c.3617G>A (p.Gly1206Asp) c.3587G>A (p.Gly1196Asp) c.3713G>A (p.Gly1238Asp) c.3002G>A (p.Gly1001Asp) c.3597+714G>A (n.3597+714G>A) c.3547+1253G>A (n.3547+1253G>A) c.2939G>A (p.Gly980Asp) c.2906G>A (p.Gly969Asp) c.3119G>A (p.Gly1040Asp)
X	g.53235070C>A	CA413142024	IQSEC2	c.3775G>T (p.Gly1259Cys) c.1453+713G>T c.962+713G>T c.316+1252G>T (n.316+1252G>T) c.514+1252G>T (n.514+1252G>T) c.101G>T (n.101G>T) c.3616G>T (p.Gly1206Cys) c.3586G>T (p.Gly1196Cys) c.3712G>T (p.Gly1238Cys) c.3001G>T (p.Gly1001Cys) c.3597+713G>T (n.3597+713G>T) c.3547+1252G>T (n.3547+1252G>T) c.2938G>T (p.Gly980Cys) c.2905G>T (p.Gly969Cys) c.3118G>T (p.Gly1040Cys)
X	g.53235070C>G	CA413142028	IQSEC2	c.3775G>C (p.Gly1259Arg) c.1453+713G>C c.962+713G>C c.316+1252G>C (n.316+1252G>C) c.514+1252G>C (n.514+1252G>C) c.101G>C (n.101G>C) c.3616G>C (p.Gly1206Arg) c.3586G>C (p.Gly1196Arg) c.3712G>C (p.Gly1238Arg) c.3001G>C (p.Gly1001Arg) c.3597+713G>C (n.3597+713G>C) c.3547+1252G>C (n.3547+1252G>C) c.2938G>C (p.Gly980Arg) c.2905G>C (p.Gly969Arg) c.3118G>C (p.Gly1040Arg)
X	g.53235070C>T	CA413142030	IQSEC2	c.3775G>A (p.Gly1259Ser) c.1453+713G>A c.962+713G>A c.316+1252G>A (n.316+1252G>A) c.514+1252G>A (n.514+1252G>A) c.101G>A (n.101G>A) c.3616G>A (p.Gly1206Ser) c.3586G>A (p.Gly1196Ser) c.3712G>A (p.Gly1238Ser) c.3001G>A (p.Gly1001Ser) c.3597+713G>A (n.3597+713G>A) c.3547+1252G>A (n.3547+1252G>A) c.2938G>A (p.Gly980Ser) c.2905G>A (p.Gly969Ser) c.3118G>A (p.Gly1040Ser)
X	g.53235071C>A	CA516673908	IQSEC2	c.3774G>T (p.Leu1258=) c.1453+712G>T c.962+712G>T c.316+1251G>T (n.316+1251G>T) c.514+1251G>T (n.514+1251G>T) c.100G>T (n.100G>T) c.3615G>T (p.Leu1205=) c.3585G>T (p.Leu1195=) c.3711G>T (p.Leu1237=) c.3000G>T (p.Leu1000=) c.3597+712G>T (n.3597+712G>T) c.3547+1251G>T (n.3547+1251G>T) c.2937G>T (p.Leu979=) c.2904G>T (p.Leu968=) c.3117G>T (p.Leu1039=)	gnomAD v4
X	g.53235071C>G	CA516673909	IQSEC2	c.3774G>C (p.Leu1258=) c.1453+712G>C c.962+712G>C c.316+1251G>C (n.316+1251G>C) c.514+1251G>C (n.514+1251G>C) c.100G>C (n.100G>C) c.3615G>C (p.Leu1205=) c.3585G>C (p.Leu1195=) c.3711G>C (p.Leu1237=) c.3000G>C (p.Leu1000=) c.3597+712G>C (n.3597+712G>C) c.3547+1251G>C (n.3547+1251G>C) c.2937G>C (p.Leu979=) c.2904G>C (p.Leu968=) c.3117G>C (p.Leu1039=)
X	g.53235071C>T	CA516673910	IQSEC2	c.3774G>A (p.Leu1258=) c.1453+712G>A c.962+712G>A c.316+1251G>A (n.316+1251G>A) c.514+1251G>A (n.514+1251G>A) c.100G>A (n.100G>A) c.3615G>A (p.Leu1205=) c.3585G>A (p.Leu1195=) c.3711G>A (p.Leu1237=) c.3000G>A (p.Leu1000=) c.3597+712G>A (n.3597+712G>A) c.3547+1251G>A (n.3547+1251G>A) c.2937G>A (p.Leu979=) c.2904G>A (p.Leu968=) c.3117G>A (p.Leu1039=)
X	g.53235072A>C	CA413142034	IQSEC2	c.3773T>G (p.Leu1258Arg) c.1453+711T>G c.962+711T>G c.316+1250T>G (n.316+1250T>G) c.514+1250T>G (n.514+1250T>G) c.99T>G (n.99T>G) c.3614T>G (p.Leu1205Arg) c.3584T>G (p.Leu1195Arg) c.3710T>G (p.Leu1237Arg) c.2999T>G (p.Leu1000Arg) c.3597+711T>G (n.3597+711T>G) c.3547+1250T>G (n.3547+1250T>G) c.2936T>G (p.Leu979Arg) c.2903T>G (p.Leu968Arg) c.3116T>G (p.Leu1039Arg)
X	g.53235072A>G	CA413142038	IQSEC2	c.3773T>C (p.Leu1258Pro) c.1453+711T>C c.962+711T>C c.316+1250T>C (n.316+1250T>C) c.514+1250T>C (n.514+1250T>C) c.99T>C (n.99T>C) c.3614T>C (p.Leu1205Pro) c.3584T>C (p.Leu1195Pro) c.3710T>C (p.Leu1237Pro) c.2999T>C (p.Leu1000Pro) c.3597+711T>C (n.3597+711T>C) c.3547+1250T>C (n.3547+1250T>C) c.2936T>C (p.Leu979Pro) c.2903T>C (p.Leu968Pro) c.3116T>C (p.Leu1039Pro)
X	g.53235072A>T	CA413142041	IQSEC2	c.3773T>A (p.Leu1258Gln) c.1453+711T>A c.962+711T>A c.316+1250T>A (n.316+1250T>A) c.514+1250T>A (n.514+1250T>A) c.99T>A (n.99T>A) c.3614T>A (p.Leu1205Gln) c.3584T>A (p.Leu1195Gln) c.3710T>A (p.Leu1237Gln) c.2999T>A (p.Leu1000Gln) c.3597+711T>A (n.3597+711T>A) c.3547+1250T>A (n.3547+1250T>A) c.2936T>A (p.Leu979Gln) c.2903T>A (p.Leu968Gln) c.3116T>A (p.Leu1039Gln)
X	g.53235073G>A	CA516673913	IQSEC2	c.3772C>T (p.Leu1258=) c.1453+710C>T c.962+710C>T c.316+1249C>T (n.316+1249C>T) c.514+1249C>T (n.514+1249C>T) c.98C>T (n.98C>T) c.3613C>T (p.Leu1205=) c.3583C>T (p.Leu1195=) c.3709C>T (p.Leu1237=) c.2998C>T (p.Leu1000=) c.3597+710C>T (n.3597+710C>T) c.3547+1249C>T (n.3547+1249C>T) c.2935C>T (p.Leu979=) c.2902C>T (p.Leu968=) c.3115C>T (p.Leu1039=)
X	g.53235073G>C	CA413142045	IQSEC2	c.3772C>G (p.Leu1258Val) c.1453+710C>G c.962+710C>G c.316+1249C>G (n.316+1249C>G) c.514+1249C>G (n.514+1249C>G) c.98C>G (n.98C>G) c.3613C>G (p.Leu1205Val) c.3583C>G (p.Leu1195Val) c.3709C>G (p.Leu1237Val) c.2998C>G (p.Leu1000Val) c.3597+710C>G (n.3597+710C>G) c.3547+1249C>G (n.3547+1249C>G) c.2935C>G (p.Leu979Val) c.2902C>G (p.Leu968Val) c.3115C>G (p.Leu1039Val)
X	g.53235073G>T	CA413142048	IQSEC2	c.3772C>A (p.Leu1258Met) c.1453+710C>A c.962+710C>A c.316+1249C>A (n.316+1249C>A) c.514+1249C>A (n.514+1249C>A) c.98C>A (n.98C>A) c.3613C>A (p.Leu1205Met) c.3583C>A (p.Leu1195Met) c.3709C>A (p.Leu1237Met) c.2998C>A (p.Leu1000Met) c.3597+710C>A (n.3597+710C>A) c.3547+1249C>A (n.3547+1249C>A) c.2935C>A (p.Leu979Met) c.2902C>A (p.Leu968Met) c.3115C>A (p.Leu1039Met)
X	g.53235074del	CA2580101218	IQSEC2	c.3772del (p.Leu1258TrpfsTer?) c.1453+710del c.962+710del c.316+1249del (n.316+1249del) c.514+1249del (n.514+1249del) c.98del (n.98del) c.3613del (p.Leu1205TrpfsTer?) c.3583del (p.Leu1195TrpfsTer?) c.3709del (p.Leu1237TrpfsTer?) c.2998del (p.Leu1000TrpfsTer?) c.3597+710del (n.3597+710del) c.3547+1249del (n.3547+1249del) c.2935del (p.Leu979TrpfsTer?) c.2902del (p.Leu968TrpfsTer?) c.3115del (p.Leu1039TrpfsTer?)	ClinVar
X	g.53235074G>A	CA516673916	IQSEC2	c.3771C>T (p.Phe1257=) c.1453+709C>T c.962+709C>T c.316+1248C>T (n.316+1248C>T) c.514+1248C>T (n.514+1248C>T) c.97C>T (n.97C>T) c.3612C>T (p.Phe1204=) c.3582C>T (p.Phe1194=) c.3708C>T (p.Phe1236=) c.2997C>T (p.Phe999=) c.3597+709C>T (n.3597+709C>T) c.3547+1248C>T (n.3547+1248C>T) c.2934C>T (p.Phe978=) c.2901C>T (p.Phe967=) c.3114C>T (p.Phe1038=)	gnomAD v4
X	g.53235074G>C	CA413142051	IQSEC2	c.3771C>G (p.Phe1257Leu) c.1453+709C>G c.962+709C>G c.316+1248C>G (n.316+1248C>G) c.514+1248C>G (n.514+1248C>G) c.97C>G (n.97C>G) c.3612C>G (p.Phe1204Leu) c.3582C>G (p.Phe1194Leu) c.3708C>G (p.Phe1236Leu) c.2997C>G (p.Phe999Leu) c.3597+709C>G (n.3597+709C>G) c.3547+1248C>G (n.3547+1248C>G) c.2934C>G (p.Phe978Leu) c.2901C>G (p.Phe967Leu) c.3114C>G (p.Phe1038Leu)
X	g.53235074G>T	CA413142054	IQSEC2	c.3771C>A (p.Phe1257Leu) c.1453+709C>A c.962+709C>A c.316+1248C>A (n.316+1248C>A) c.514+1248C>A (n.514+1248C>A) c.97C>A (n.97C>A) c.3612C>A (p.Phe1204Leu) c.3582C>A (p.Phe1194Leu) c.3708C>A (p.Phe1236Leu) c.2997C>A (p.Phe999Leu) c.3597+709C>A (n.3597+709C>A) c.3547+1248C>A (n.3547+1248C>A) c.2934C>A (p.Phe978Leu) c.2901C>A (p.Phe967Leu) c.3114C>A (p.Phe1038Leu)
X	g.53235075A>C	CA413142058	IQSEC2	c.3770T>G (p.Phe1257Cys) c.1453+708T>G c.962+708T>G c.316+1247T>G (n.316+1247T>G) c.514+1247T>G (n.514+1247T>G) c.96T>G (n.96T>G) c.3611T>G (p.Phe1204Cys) c.3581T>G (p.Phe1194Cys) c.3707T>G (p.Phe1236Cys) c.2996T>G (p.Phe999Cys) c.3597+708T>G (n.3597+708T>G) c.3547+1247T>G (n.3547+1247T>G) c.2933T>G (p.Phe978Cys) c.2900T>G (p.Phe967Cys) c.3113T>G (p.Phe1038Cys)
X	g.53235075A>G	CA413142061	IQSEC2	c.3770T>C (p.Phe1257Ser) c.1453+708T>C c.962+708T>C c.316+1247T>C (n.316+1247T>C) c.514+1247T>C (n.514+1247T>C) c.96T>C (n.96T>C) c.3611T>C (p.Phe1204Ser) c.3581T>C (p.Phe1194Ser) c.3707T>C (p.Phe1236Ser) c.2996T>C (p.Phe999Ser) c.3597+708T>C (n.3597+708T>C) c.3547+1247T>C (n.3547+1247T>C) c.2933T>C (p.Phe978Ser) c.2900T>C (p.Phe967Ser) c.3113T>C (p.Phe1038Ser)
X	g.53235075A>T	CA413142064	IQSEC2	c.3770T>A (p.Phe1257Tyr) c.1453+708T>A c.962+708T>A c.316+1247T>A (n.316+1247T>A) c.514+1247T>A (n.514+1247T>A) c.96T>A (n.96T>A) c.3611T>A (p.Phe1204Tyr) c.3581T>A (p.Phe1194Tyr) c.3707T>A (p.Phe1236Tyr) c.2996T>A (p.Phe999Tyr) c.3597+708T>A (n.3597+708T>A) c.3547+1247T>A (n.3547+1247T>A) c.2933T>A (p.Phe978Tyr) c.2900T>A (p.Phe967Tyr) c.3113T>A (p.Phe1038Tyr)
X	g.53235076A>C	CA413142068	IQSEC2	c.3769T>G (p.Phe1257Val) c.1453+707T>G c.962+707T>G c.316+1246T>G (n.316+1246T>G) c.514+1246T>G (n.514+1246T>G) c.95T>G (n.95T>G) c.3610T>G (p.Phe1204Val) c.3580T>G (p.Phe1194Val) c.3706T>G (p.Phe1236Val) c.2995T>G (p.Phe999Val) c.3597+707T>G (n.3597+707T>G) c.3547+1246T>G (n.3547+1246T>G) c.2932T>G (p.Phe978Val) c.2899T>G (p.Phe967Val) c.3112T>G (p.Phe1038Val)
X	g.53235076A>G	CA413142072	IQSEC2	c.3769T>C (p.Phe1257Leu) c.1453+707T>C c.962+707T>C c.316+1246T>C (n.316+1246T>C) c.514+1246T>C (n.514+1246T>C) c.95T>C (n.95T>C) c.3610T>C (p.Phe1204Leu) c.3580T>C (p.Phe1194Leu) c.3706T>C (p.Phe1236Leu) c.2995T>C (p.Phe999Leu) c.3597+707T>C (n.3597+707T>C) c.3547+1246T>C (n.3547+1246T>C) c.2932T>C (p.Phe978Leu) c.2899T>C (p.Phe967Leu) c.3112T>C (p.Phe1038Leu)
X	g.53235076A>T	CA413142076	IQSEC2	c.3769T>A (p.Phe1257Ile) c.1453+707T>A c.962+707T>A c.316+1246T>A (n.316+1246T>A) c.514+1246T>A (n.514+1246T>A) c.95T>A (n.95T>A) c.3610T>A (p.Phe1204Ile) c.3580T>A (p.Phe1194Ile) c.3706T>A (p.Phe1236Ile) c.2995T>A (p.Phe999Ile) c.3597+707T>A (n.3597+707T>A) c.3547+1246T>A (n.3547+1246T>A) c.2932T>A (p.Phe978Ile) c.2899T>A (p.Phe967Ile) c.3112T>A (p.Phe1038Ile)
X	g.53235077G>A	CA516673923	IQSEC2	c.3768C>T (p.Ser1256=) c.1453+706C>T c.962+706C>T c.316+1245C>T (n.316+1245C>T) c.514+1245C>T (n.514+1245C>T) c.94C>T (n.94C>T) c.3609C>T (p.Ser1203=) c.3579C>T (p.Ser1193=) c.3705C>T (p.Ser1235=) c.2994C>T (p.Ser998=) c.3597+706C>T (n.3597+706C>T) c.3547+1245C>T (n.3547+1245C>T) c.2931C>T (p.Ser977=) c.2898C>T (p.Ser966=) c.3111C>T (p.Ser1037=)
X	g.53235077G>C	CA516673924	IQSEC2	c.3768C>G (p.Ser1256=) c.1453+706C>G c.962+706C>G c.316+1245C>G (n.316+1245C>G) c.514+1245C>G (n.514+1245C>G) c.94C>G (n.94C>G) c.3609C>G (p.Ser1203=) c.3579C>G (p.Ser1193=) c.3705C>G (p.Ser1235=) c.2994C>G (p.Ser998=) c.3597+706C>G (n.3597+706C>G) c.3547+1245C>G (n.3547+1245C>G) c.2931C>G (p.Ser977=) c.2898C>G (p.Ser966=) c.3111C>G (p.Ser1037=)
X	g.53235077G>T	CA516673925	IQSEC2	c.3768C>A (p.Ser1256=) c.1453+706C>A c.962+706C>A c.316+1245C>A (n.316+1245C>A) c.514+1245C>A (n.514+1245C>A) c.94C>A (n.94C>A) c.3609C>A (p.Ser1203=) c.3579C>A (p.Ser1193=) c.3705C>A (p.Ser1235=) c.2994C>A (p.Ser998=) c.3597+706C>A (n.3597+706C>A) c.3547+1245C>A (n.3547+1245C>A) c.2931C>A (p.Ser977=) c.2898C>A (p.Ser966=) c.3111C>A (p.Ser1037=)
X	g.53235078G>A	CA413142080	IQSEC2	c.3767C>T (p.Ser1256Phe) c.1453+705C>T c.962+705C>T c.316+1244C>T (n.316+1244C>T) c.514+1244C>T (n.514+1244C>T) c.93C>T (n.93C>T) c.3608C>T (p.Ser1203Phe) c.3578C>T (p.Ser1193Phe) c.3704C>T (p.Ser1235Phe) c.2993C>T (p.Ser998Phe) c.3597+705C>T (n.3597+705C>T) c.3547+1244C>T (n.3547+1244C>T) c.2930C>T (p.Ser977Phe) c.2897C>T (p.Ser966Phe) c.3110C>T (p.Ser1037Phe)	dbSNP
X	g.53235078G>C	CA413142083	IQSEC2	c.3767C>G (p.Ser1256Cys) c.1453+705C>G c.962+705C>G c.316+1244C>G (n.316+1244C>G) c.514+1244C>G (n.514+1244C>G) c.93C>G (n.93C>G) c.3608C>G (p.Ser1203Cys) c.3578C>G (p.Ser1193Cys) c.3704C>G (p.Ser1235Cys) c.2993C>G (p.Ser998Cys) c.3597+705C>G (n.3597+705C>G) c.3547+1244C>G (n.3547+1244C>G) c.2930C>G (p.Ser977Cys) c.2897C>G (p.Ser966Cys) c.3110C>G (p.Ser1037Cys)
X	g.53235078G=	CA2429770686	IQSEC2	c.3767C= (p.Ser1256=) c.1453+705C= c.962+705C= c.316+1244C= (n.316+1244C=) c.514+1244C= (n.514+1244C=) c.93C= (n.93C=) c.3608C= (p.Ser1203=) c.3578C= (p.Ser1193=) c.3704C= (p.Ser1235=) c.2993C= (p.Ser998=) c.3597+705C= (n.3597+705C=) c.3547+1244C= (n.3547+1244C=) c.2930C= (p.Ser977=) c.2897C= (p.Ser966=) c.3110C= (p.Ser1037=)
X	g.53235078G>T	CA413142085	IQSEC2	c.3767C>A (p.Ser1256Tyr) c.1453+705C>A c.962+705C>A c.316+1244C>A (n.316+1244C>A) c.514+1244C>A (n.514+1244C>A) c.93C>A (n.93C>A) c.3608C>A (p.Ser1203Tyr) c.3578C>A (p.Ser1193Tyr) c.3704C>A (p.Ser1235Tyr) c.2993C>A (p.Ser998Tyr) c.3597+705C>A (n.3597+705C>A) c.3547+1244C>A (n.3547+1244C>A) c.2930C>A (p.Ser977Tyr) c.2897C>A (p.Ser966Tyr) c.3110C>A (p.Ser1037Tyr)
X	g.53235079A>C	CA413142088	IQSEC2	c.3766T>G (p.Ser1256Ala) c.1453+704T>G c.962+704T>G c.316+1243T>G (n.316+1243T>G) c.514+1243T>G (n.514+1243T>G) c.92T>G (n.92T>G) c.3607T>G (p.Ser1203Ala) c.3577T>G (p.Ser1193Ala) c.3703T>G (p.Ser1235Ala) c.2992T>G (p.Ser998Ala) c.3597+704T>G (n.3597+704T>G) c.3547+1243T>G (n.3547+1243T>G) c.2929T>G (p.Ser977Ala) c.2896T>G (p.Ser966Ala) c.3109T>G (p.Ser1037Ala)
X	g.53235079A>G	CA413142090	IQSEC2	c.3766T>C (p.Ser1256Pro) c.1453+704T>C c.962+704T>C c.316+1243T>C (n.316+1243T>C) c.514+1243T>C (n.514+1243T>C) c.92T>C (n.92T>C) c.3607T>C (p.Ser1203Pro) c.3577T>C (p.Ser1193Pro) c.3703T>C (p.Ser1235Pro) c.2992T>C (p.Ser998Pro) c.3597+704T>C (n.3597+704T>C) c.3547+1243T>C (n.3547+1243T>C) c.2929T>C (p.Ser977Pro) c.2896T>C (p.Ser966Pro) c.3109T>C (p.Ser1037Pro)
X	g.53235079A>T	CA413142093	IQSEC2	c.3766T>A (p.Ser1256Thr) c.1453+704T>A c.962+704T>A c.316+1243T>A (n.316+1243T>A) c.514+1243T>A (n.514+1243T>A) c.92T>A (n.92T>A) c.3607T>A (p.Ser1203Thr) c.3577T>A (p.Ser1193Thr) c.3703T>A (p.Ser1235Thr) c.2992T>A (p.Ser998Thr) c.3597+704T>A (n.3597+704T>A) c.3547+1243T>A (n.3547+1243T>A) c.2929T>A (p.Ser977Thr) c.2896T>A (p.Ser966Thr) c.3109T>A (p.Ser1037Thr)
X	g.53235080T>A	CA516673929	IQSEC2	c.3765A>T (p.Ser1255=) c.1453+703A>T c.962+703A>T c.316+1242A>T (n.316+1242A>T) c.514+1242A>T (n.514+1242A>T) c.91A>T (n.91A>T) c.3606A>T (p.Ser1202=) c.3576A>T (p.Ser1192=) c.3702A>T (p.Ser1234=) c.2991A>T (p.Ser997=) c.3597+703A>T (n.3597+703A>T) c.3547+1242A>T (n.3547+1242A>T) c.2928A>T (p.Ser976=) c.2895A>T (p.Ser965=) c.3108A>T (p.Ser1036=)
X	g.53235080T>C	CA516673930	IQSEC2	c.3765A>G (p.Ser1255=) c.1453+703A>G c.962+703A>G c.316+1242A>G (n.316+1242A>G) c.514+1242A>G (n.514+1242A>G) c.91A>G (n.91A>G) c.3606A>G (p.Ser1202=) c.3576A>G (p.Ser1192=) c.3702A>G (p.Ser1234=) c.2991A>G (p.Ser997=) c.3597+703A>G (n.3597+703A>G) c.3547+1242A>G (n.3547+1242A>G) c.2928A>G (p.Ser976=) c.2895A>G (p.Ser965=) c.3108A>G (p.Ser1036=)	dbSNP gnomAD v3 gnomAD v4
X	g.53235080T>G	CA516673928	IQSEC2	c.3765A>C (p.Ser1255=) c.1453+703A>C c.962+703A>C c.316+1242A>C (n.316+1242A>C) c.514+1242A>C (n.514+1242A>C) c.91A>C (n.91A>C) c.3606A>C (p.Ser1202=) c.3576A>C (p.Ser1192=) c.3702A>C (p.Ser1234=) c.2991A>C (p.Ser997=) c.3597+703A>C (n.3597+703A>C) c.3547+1242A>C (n.3547+1242A>C) c.2928A>C (p.Ser976=) c.2895A>C (p.Ser965=) c.3108A>C (p.Ser1036=)
X	g.53235080T=	CA2429770687	IQSEC2	c.3765A= (p.Ser1255=) c.1453+703A= c.962+703A= c.316+1242A= (n.316+1242A=) c.514+1242A= (n.514+1242A=) c.91A= (n.91A=) c.3606A= (p.Ser1202=) c.3576A= (p.Ser1192=) c.3702A= (p.Ser1234=) c.2991A= (p.Ser997=) c.3597+703A= (n.3597+703A=) c.3547+1242A= (n.3547+1242A=) c.2928A= (p.Ser976=) c.2895A= (p.Ser965=) c.3108A= (p.Ser1036=)
X	g.53235081G>A	CA413142101	IQSEC2	c.3764C>T (p.Ser1255Leu) c.1453+702C>T c.962+702C>T c.316+1241C>T (n.316+1241C>T) c.514+1241C>T (n.514+1241C>T) c.90C>T (n.90C>T) c.3605C>T (p.Ser1202Leu) c.3575C>T (p.Ser1192Leu) c.3701C>T (p.Ser1234Leu) c.2990C>T (p.Ser997Leu) c.3597+702C>T (n.3597+702C>T) c.3547+1241C>T (n.3547+1241C>T) c.2927C>T (p.Ser976Leu) c.2894C>T (p.Ser965Leu) c.3107C>T (p.Ser1036Leu)
X	g.53235081G>C	CA413142096	IQSEC2	c.3764C>G (p.Ser1255Ter) c.1453+702C>G c.962+702C>G c.316+1241C>G (n.316+1241C>G) c.514+1241C>G (n.514+1241C>G) c.90C>G (n.90C>G) c.3605C>G (p.Ser1202Ter) c.3575C>G (p.Ser1192Ter) c.3701C>G (p.Ser1234Ter) c.2990C>G (p.Ser997Ter) c.3597+702C>G (n.3597+702C>G) c.3547+1241C>G (n.3547+1241C>G) c.2927C>G (p.Ser976Ter) c.2894C>G (p.Ser965Ter) c.3107C>G (p.Ser1036Ter)
X	g.53235081G>T	CA413142099	IQSEC2	c.3764C>A (p.Ser1255Ter) c.1453+702C>A c.962+702C>A c.316+1241C>A (n.316+1241C>A) c.514+1241C>A (n.514+1241C>A) c.90C>A (n.90C>A) c.3605C>A (p.Ser1202Ter) c.3575C>A (p.Ser1192Ter) c.3701C>A (p.Ser1234Ter) c.2990C>A (p.Ser997Ter) c.3597+702C>A (n.3597+702C>A) c.3547+1241C>A (n.3547+1241C>A) c.2927C>A (p.Ser976Ter) c.2894C>A (p.Ser965Ter) c.3107C>A (p.Ser1036Ter)
X	g.53235082A>C	CA413142105	IQSEC2	c.3763T>G (p.Ser1255Ala) c.1453+701T>G c.962+701T>G c.316+1240T>G (n.316+1240T>G) c.514+1240T>G (n.514+1240T>G) c.89T>G (n.89T>G) c.3604T>G (p.Ser1202Ala) c.3574T>G (p.Ser1192Ala) c.3700T>G (p.Ser1234Ala) c.2989T>G (p.Ser997Ala) c.3597+701T>G (n.3597+701T>G) c.3547+1240T>G (n.3547+1240T>G) c.2926T>G (p.Ser976Ala) c.2893T>G (p.Ser965Ala) c.3106T>G (p.Ser1036Ala)
X	g.53235082A>G	CA413142107	IQSEC2	c.3763T>C (p.Ser1255Pro) c.1453+701T>C c.962+701T>C c.316+1240T>C (n.316+1240T>C) c.514+1240T>C (n.514+1240T>C) c.89T>C (n.89T>C) c.3604T>C (p.Ser1202Pro) c.3574T>C (p.Ser1192Pro) c.3700T>C (p.Ser1234Pro) c.2989T>C (p.Ser997Pro) c.3597+701T>C (n.3597+701T>C) c.3547+1240T>C (n.3547+1240T>C) c.2926T>C (p.Ser976Pro) c.2893T>C (p.Ser965Pro) c.3106T>C (p.Ser1036Pro)
X	g.53235082A>T	CA413142109	IQSEC2	c.3763T>A (p.Ser1255Thr) c.1453+701T>A c.962+701T>A c.316+1240T>A (n.316+1240T>A) c.514+1240T>A (n.514+1240T>A) c.89T>A (n.89T>A) c.3604T>A (p.Ser1202Thr) c.3574T>A (p.Ser1192Thr) c.3700T>A (p.Ser1234Thr) c.2989T>A (p.Ser997Thr) c.3597+701T>A (n.3597+701T>A) c.3547+1240T>A (n.3547+1240T>A) c.2926T>A (p.Ser976Thr) c.2893T>A (p.Ser965Thr) c.3106T>A (p.Ser1036Thr)
X	g.53235083G>A	CA516673936	IQSEC2	c.3762C>T (p.Ser1254=) c.1453+700C>T c.962+700C>T c.316+1239C>T (n.316+1239C>T) c.514+1239C>T (n.514+1239C>T) c.88C>T (n.88C>T) c.3603C>T (p.Ser1201=) c.3573C>T (p.Ser1191=) c.3699C>T (p.Ser1233=) c.2988C>T (p.Ser996=) c.3597+700C>T (n.3597+700C>T) c.3547+1239C>T (n.3547+1239C>T) c.2925C>T (p.Ser975=) c.2892C>T (p.Ser964=) c.3105C>T (p.Ser1035=)
X	g.53235083G>C	CA516673937	IQSEC2	c.3762C>G (p.Ser1254=) c.1453+700C>G c.962+700C>G c.316+1239C>G (n.316+1239C>G) c.514+1239C>G (n.514+1239C>G) c.88C>G (n.88C>G) c.3603C>G (p.Ser1201=) c.3573C>G (p.Ser1191=) c.3699C>G (p.Ser1233=) c.2988C>G (p.Ser996=) c.3597+700C>G (n.3597+700C>G) c.3547+1239C>G (n.3547+1239C>G) c.2925C>G (p.Ser975=) c.2892C>G (p.Ser964=) c.3105C>G (p.Ser1035=)
X	g.53235083G>T	CA516673938	IQSEC2	c.3762C>A (p.Ser1254=) c.1453+700C>A c.962+700C>A c.316+1239C>A (n.316+1239C>A) c.514+1239C>A (n.514+1239C>A) c.88C>A (n.88C>A) c.3603C>A (p.Ser1201=) c.3573C>A (p.Ser1191=) c.3699C>A (p.Ser1233=) c.2988C>A (p.Ser996=) c.3597+700C>A (n.3597+700C>A) c.3547+1239C>A (n.3547+1239C>A) c.2925C>A (p.Ser975=) c.2892C>A (p.Ser964=) c.3105C>A (p.Ser1035=)	gnomAD v4
X	g.53235084G>A	CA413142111	IQSEC2	c.3761C>T (p.Ser1254Phe) c.1453+699C>T c.962+699C>T c.316+1238C>T (n.316+1238C>T) c.514+1238C>T (n.514+1238C>T) c.87C>T (n.87C>T) c.3602C>T (p.Ser1201Phe) c.3572C>T (p.Ser1191Phe) c.3698C>T (p.Ser1233Phe) c.2987C>T (p.Ser996Phe) c.3597+699C>T (n.3597+699C>T) c.3547+1238C>T (n.3547+1238C>T) c.2924C>T (p.Ser975Phe) c.2891C>T (p.Ser964Phe) c.3104C>T (p.Ser1035Phe)	ClinVar dbSNP
X	g.53235084G>C	CA413142114	IQSEC2	c.3761C>G (p.Ser1254Cys) c.1453+699C>G c.962+699C>G c.316+1238C>G (n.316+1238C>G) c.514+1238C>G (n.514+1238C>G) c.87C>G (n.87C>G) c.3602C>G (p.Ser1201Cys) c.3572C>G (p.Ser1191Cys) c.3698C>G (p.Ser1233Cys) c.2987C>G (p.Ser996Cys) c.3597+699C>G (n.3597+699C>G) c.3547+1238C>G (n.3547+1238C>G) c.2924C>G (p.Ser975Cys) c.2891C>G (p.Ser964Cys) c.3104C>G (p.Ser1035Cys)
X	g.53235084G>T	CA413142116	IQSEC2	c.3761C>A (p.Ser1254Tyr) c.1453+699C>A c.962+699C>A c.316+1238C>A (n.316+1238C>A) c.514+1238C>A (n.514+1238C>A) c.87C>A (n.87C>A) c.3602C>A (p.Ser1201Tyr) c.3572C>A (p.Ser1191Tyr) c.3698C>A (p.Ser1233Tyr) c.2987C>A (p.Ser996Tyr) c.3597+699C>A (n.3597+699C>A) c.3547+1238C>A (n.3547+1238C>A) c.2924C>A (p.Ser975Tyr) c.2891C>A (p.Ser964Tyr) c.3104C>A (p.Ser1035Tyr)
X	g.53235085A=	CA2429770688	IQSEC2	c.3760T= (p.Ser1254=) c.1453+698T= c.962+698T= c.316+1237T= (n.316+1237T=) c.514+1237T= (n.514+1237T=) c.86T= (n.86T=) c.3601T= (p.Ser1201=) c.3571T= (p.Ser1191=) c.3697T= (p.Ser1233=) c.2986T= (p.Ser996=) c.3597+698T= (n.3597+698T=) c.3547+1237T= (n.3547+1237T=) c.2923T= (p.Ser975=) c.2890T= (p.Ser964=) c.3103T= (p.Ser1035=)
X	g.53235085A>C	CA413142119	IQSEC2	c.3760T>G (p.Ser1254Ala) c.1453+698T>G c.962+698T>G c.316+1237T>G (n.316+1237T>G) c.514+1237T>G (n.514+1237T>G) c.86T>G (n.86T>G) c.3601T>G (p.Ser1201Ala) c.3571T>G (p.Ser1191Ala) c.3697T>G (p.Ser1233Ala) c.2986T>G (p.Ser996Ala) c.3597+698T>G (n.3597+698T>G) c.3547+1237T>G (n.3547+1237T>G) c.2923T>G (p.Ser975Ala) c.2890T>G (p.Ser964Ala) c.3103T>G (p.Ser1035Ala)
X	g.53235085A>G	CA413142121	IQSEC2	c.3760T>C (p.Ser1254Pro) c.1453+698T>C c.962+698T>C c.316+1237T>C (n.316+1237T>C) c.514+1237T>C (n.514+1237T>C) c.86T>C (n.86T>C) c.3601T>C (p.Ser1201Pro) c.3571T>C (p.Ser1191Pro) c.3697T>C (p.Ser1233Pro) c.2986T>C (p.Ser996Pro) c.3597+698T>C (n.3597+698T>C) c.3547+1237T>C (n.3547+1237T>C) c.2923T>C (p.Ser975Pro) c.2890T>C (p.Ser964Pro) c.3103T>C (p.Ser1035Pro)	dbSNP
X	g.53235085A>T	CA413142123	IQSEC2	c.3760T>A (p.Ser1254Thr) c.1453+698T>A c.962+698T>A c.316+1237T>A (n.316+1237T>A) c.514+1237T>A (n.514+1237T>A) c.86T>A (n.86T>A) c.3601T>A (p.Ser1201Thr) c.3571T>A (p.Ser1191Thr) c.3697T>A (p.Ser1233Thr) c.2986T>A (p.Ser996Thr) c.3597+698T>A (n.3597+698T>A) c.3547+1237T>A (n.3547+1237T>A) c.2923T>A (p.Ser975Thr) c.2890T>A (p.Ser964Thr) c.3103T>A (p.Ser1035Thr)
X	g.53235086G>A	CA516673944	IQSEC2	c.3759C>T (p.Asn1253=) c.1453+697C>T c.962+697C>T c.316+1236C>T (n.316+1236C>T) c.514+1236C>T (n.514+1236C>T) c.85C>T (n.85C>T) c.3600C>T (p.Asn1200=) c.3570C>T (p.Asn1190=) c.3696C>T (p.Asn1232=) c.2985C>T (p.Asn995=) c.3597+697C>T (n.3597+697C>T) c.3547+1236C>T (n.3547+1236C>T) c.2922C>T (p.Asn974=) c.2889C>T (p.Asn963=) c.3102C>T (p.Asn1034=)
X	g.53235086G>C	CA413142126	IQSEC2	c.3759C>G (p.Asn1253Lys) c.1453+697C>G c.962+697C>G c.316+1236C>G (n.316+1236C>G) c.514+1236C>G (n.514+1236C>G) c.85C>G (n.85C>G) c.3600C>G (p.Asn1200Lys) c.3570C>G (p.Asn1190Lys) c.3696C>G (p.Asn1232Lys) c.2985C>G (p.Asn995Lys) c.3597+697C>G (n.3597+697C>G) c.3547+1236C>G (n.3547+1236C>G) c.2922C>G (p.Asn974Lys) c.2889C>G (p.Asn963Lys) c.3102C>G (p.Asn1034Lys)
X	g.53235086G>T	CA413142128	IQSEC2	c.3759C>A (p.Asn1253Lys) c.1453+697C>A c.962+697C>A c.316+1236C>A (n.316+1236C>A) c.514+1236C>A (n.514+1236C>A) c.85C>A (n.85C>A) c.3600C>A (p.Asn1200Lys) c.3570C>A (p.Asn1190Lys) c.3696C>A (p.Asn1232Lys) c.2985C>A (p.Asn995Lys) c.3597+697C>A (n.3597+697C>A) c.3547+1236C>A (n.3547+1236C>A) c.2922C>A (p.Asn974Lys) c.2889C>A (p.Asn963Lys) c.3102C>A (p.Asn1034Lys)
X	g.53235087T>A	CA413142135	IQSEC2	c.3758A>T (p.Asn1253Ile) c.1453+696A>T c.962+696A>T c.316+1235A>T (n.316+1235A>T) c.514+1235A>T (n.514+1235A>T) c.84A>T (n.84A>T) c.3599A>T (p.Asn1200Ile) c.3569A>T (p.Asn1190Ile) c.3695A>T (p.Asn1232Ile) c.2984A>T (p.Asn995Ile) c.3597+696A>T (n.3597+696A>T) c.3547+1235A>T (n.3547+1235A>T) c.2921A>T (p.Asn974Ile) c.2888A>T (p.Asn963Ile) c.3101A>T (p.Asn1034Ile)
X	g.53235087T>C	CA413142132	IQSEC2	c.3758A>G (p.Asn1253Ser) c.1453+696A>G c.962+696A>G c.316+1235A>G (n.316+1235A>G) c.514+1235A>G (n.514+1235A>G) c.84A>G (n.84A>G) c.3599A>G (p.Asn1200Ser) c.3569A>G (p.Asn1190Ser) c.3695A>G (p.Asn1232Ser) c.2984A>G (p.Asn995Ser) c.3597+696A>G (n.3597+696A>G) c.3547+1235A>G (n.3547+1235A>G) c.2921A>G (p.Asn974Ser) c.2888A>G (p.Asn963Ser) c.3101A>G (p.Asn1034Ser)	ClinVar
X	g.53235087T>G	CA413142130	IQSEC2	c.3758A>C (p.Asn1253Thr) c.1453+696A>C c.962+696A>C c.316+1235A>C (n.316+1235A>C) c.514+1235A>C (n.514+1235A>C) c.84A>C (n.84A>C) c.3599A>C (p.Asn1200Thr) c.3569A>C (p.Asn1190Thr) c.3695A>C (p.Asn1232Thr) c.2984A>C (p.Asn995Thr) c.3597+696A>C (n.3597+696A>C) c.3547+1235A>C (n.3547+1235A>C) c.2921A>C (p.Asn974Thr) c.2888A>C (p.Asn963Thr) c.3101A>C (p.Asn1034Thr)	gnomAD v3 gnomAD v4
X	g.53235088T>A	CA413142137	IQSEC2	c.3757A>T (p.Asn1253Tyr) c.1453+695A>T c.962+695A>T c.316+1234A>T (n.316+1234A>T) c.514+1234A>T (n.514+1234A>T) c.83A>T (n.83A>T) c.3598A>T (p.Asn1200Tyr) c.3568A>T (p.Asn1190Tyr) c.3694A>T (p.Asn1232Tyr) c.2983A>T (p.Asn995Tyr) c.3597+695A>T (n.3597+695A>T) c.3547+1234A>T (n.3547+1234A>T) c.2920A>T (p.Asn974Tyr) c.2887A>T (p.Asn963Tyr) c.3100A>T (p.Asn1034Tyr)
X	g.53235088T>C	CA413142140	IQSEC2	c.3757A>G (p.Asn1253Asp) c.1453+695A>G c.962+695A>G c.316+1234A>G (n.316+1234A>G) c.514+1234A>G (n.514+1234A>G) c.83A>G (n.83A>G) c.3598A>G (p.Asn1200Asp) c.3568A>G (p.Asn1190Asp) c.3694A>G (p.Asn1232Asp) c.2983A>G (p.Asn995Asp) c.3597+695A>G (n.3597+695A>G) c.3547+1234A>G (n.3547+1234A>G) c.2920A>G (p.Asn974Asp) c.2887A>G (p.Asn963Asp) c.3100A>G (p.Asn1034Asp)
X	g.53235088T>G	CA413142142	IQSEC2	c.3757A>C (p.Asn1253His) c.1453+695A>C c.962+695A>C c.316+1234A>C (n.316+1234A>C) c.514+1234A>C (n.514+1234A>C) c.83A>C (n.83A>C) c.3598A>C (p.Asn1200His) c.3568A>C (p.Asn1190His) c.3694A>C (p.Asn1232His) c.2983A>C (p.Asn995His) c.3597+695A>C (n.3597+695A>C) c.3547+1234A>C (n.3547+1234A>C) c.2920A>C (p.Asn974His) c.2887A>C (p.Asn963His) c.3100A>C (p.Asn1034His)	dbSNP gnomAD v4 COSMIC COSMIC
X	g.53235088T=	CA2429770689	IQSEC2	c.3757A= (p.Asn1253=) c.1453+695A= c.962+695A= c.316+1234A= (n.316+1234A=) c.514+1234A= (n.514+1234A=) c.83A= (n.83A=) c.3598A= (p.Asn1200=) c.3568A= (p.Asn1190=) c.3694A= (p.Asn1232=) c.2983A= (p.Asn995=) c.3597+695A= (n.3597+695A=) c.3547+1234A= (n.3547+1234A=) c.2920A= (p.Asn974=) c.2887A= (p.Asn963=) c.3100A= (p.Asn1034=)
X	g.53235089G>A	CA516673950	IQSEC2	c.3756C>T (p.Ser1252=) c.1453+694C>T c.962+694C>T c.316+1233C>T (n.316+1233C>T) c.514+1233C>T (n.514+1233C>T) c.82C>T (n.82C>T) c.3597C>T (p.Ser1199=) c.3567C>T (p.Ser1189=) c.3693C>T (p.Ser1231=) c.2982C>T (p.Ser994=) c.3597+694C>T (n.3597+694C>T) c.3547+1233C>T (n.3547+1233C>T) c.2919C>T (p.Ser973=) c.2886C>T (p.Ser962=) c.3099C>T (p.Ser1033=)
X	g.53235089G>C	CA516673951	IQSEC2	c.3756C>G (p.Ser1252=) c.1453+694C>G c.962+694C>G c.316+1233C>G (n.316+1233C>G) c.514+1233C>G (n.514+1233C>G) c.82C>G (n.82C>G) c.3597C>G (p.Ser1199=) c.3567C>G (p.Ser1189=) c.3693C>G (p.Ser1231=) c.2982C>G (p.Ser994=) c.3597+694C>G (n.3597+694C>G) c.3547+1233C>G (n.3547+1233C>G) c.2919C>G (p.Ser973=) c.2886C>G (p.Ser962=) c.3099C>G (p.Ser1033=)
X	g.53235089G>T	CA516673952	IQSEC2	c.3756C>A (p.Ser1252=) c.1453+694C>A c.962+694C>A c.316+1233C>A (n.316+1233C>A) c.514+1233C>A (n.514+1233C>A) c.82C>A (n.82C>A) c.3597C>A (p.Ser1199=) c.3567C>A (p.Ser1189=) c.3693C>A (p.Ser1231=) c.2982C>A (p.Ser994=) c.3597+694C>A (n.3597+694C>A) c.3547+1233C>A (n.3547+1233C>A) c.2919C>A (p.Ser973=) c.2886C>A (p.Ser962=) c.3099C>A (p.Ser1033=)
X	g.53235090G>A	CA413142145	IQSEC2	c.3755C>T (p.Ser1252Phe) c.1453+693C>T c.962+693C>T c.316+1232C>T (n.316+1232C>T) c.514+1232C>T (n.514+1232C>T) c.81C>T (n.81C>T) c.3596C>T (p.Ser1199Phe) c.3566C>T (p.Ser1189Phe) c.3692C>T (p.Ser1231Phe) c.2981C>T (p.Ser994Phe) c.3597+693C>T (n.3597+693C>T) c.3547+1232C>T (n.3547+1232C>T) c.2918C>T (p.Ser973Phe) c.2885C>T (p.Ser962Phe) c.3098C>T (p.Ser1033Phe)
X	g.53235090G>C	CA413142147	IQSEC2	c.3755C>G (p.Ser1252Cys) c.1453+693C>G c.962+693C>G c.316+1232C>G (n.316+1232C>G) c.514+1232C>G (n.514+1232C>G) c.81C>G (n.81C>G) c.3596C>G (p.Ser1199Cys) c.3566C>G (p.Ser1189Cys) c.3692C>G (p.Ser1231Cys) c.2981C>G (p.Ser994Cys) c.3597+693C>G (n.3597+693C>G) c.3547+1232C>G (n.3547+1232C>G) c.2918C>G (p.Ser973Cys) c.2885C>G (p.Ser962Cys) c.3098C>G (p.Ser1033Cys)
X	g.53235090G>T	CA413142148	IQSEC2	c.3755C>A (p.Ser1252Tyr) c.1453+693C>A c.962+693C>A c.316+1232C>A (n.316+1232C>A) c.514+1232C>A (n.514+1232C>A) c.81C>A (n.81C>A) c.3596C>A (p.Ser1199Tyr) c.3566C>A (p.Ser1189Tyr) c.3692C>A (p.Ser1231Tyr) c.2981C>A (p.Ser994Tyr) c.3597+693C>A (n.3597+693C>A) c.3547+1232C>A (n.3547+1232C>A) c.2918C>A (p.Ser973Tyr) c.2885C>A (p.Ser962Tyr) c.3098C>A (p.Ser1033Tyr)
X	g.53235091A>C	CA413142150	IQSEC2	c.3754T>G (p.Ser1252Ala) c.1453+692T>G c.962+692T>G c.316+1231T>G (n.316+1231T>G) c.514+1231T>G (n.514+1231T>G) c.80T>G (n.80T>G) c.3595T>G (p.Ser1199Ala) c.3565T>G (p.Ser1189Ala) c.3691T>G (p.Ser1231Ala) c.2980T>G (p.Ser994Ala) c.3597+692T>G (n.3597+692T>G) c.3547+1231T>G (n.3547+1231T>G) c.2917T>G (p.Ser973Ala) c.2884T>G (p.Ser962Ala) c.3097T>G (p.Ser1033Ala)
X	g.53235091A>G	CA413142154	IQSEC2	c.3754T>C (p.Ser1252Pro) c.1453+692T>C c.962+692T>C c.316+1231T>C (n.316+1231T>C) c.514+1231T>C (n.514+1231T>C) c.80T>C (n.80T>C) c.3595T>C (p.Ser1199Pro) c.3565T>C (p.Ser1189Pro) c.3691T>C (p.Ser1231Pro) c.2980T>C (p.Ser994Pro) c.3597+692T>C (n.3597+692T>C) c.3547+1231T>C (n.3547+1231T>C) c.2917T>C (p.Ser973Pro) c.2884T>C (p.Ser962Pro) c.3097T>C (p.Ser1033Pro)	gnomAD v4
X	g.53235091A>T	CA413142157	IQSEC2	c.3754T>A (p.Ser1252Thr) c.1453+692T>A c.962+692T>A c.316+1231T>A (n.316+1231T>A) c.514+1231T>A (n.514+1231T>A) c.80T>A (n.80T>A) c.3595T>A (p.Ser1199Thr) c.3565T>A (p.Ser1189Thr) c.3691T>A (p.Ser1231Thr) c.2980T>A (p.Ser994Thr) c.3597+692T>A (n.3597+692T>A) c.3547+1231T>A (n.3547+1231T>A) c.2917T>A (p.Ser973Thr) c.2884T>A (p.Ser962Thr) c.3097T>A (p.Ser1033Thr)
X	g.53235091_53235094del	CA2693794346	IQSEC2	c.3751_3754del (p.Val1251ProfsTer?) c.1453+689_1453+692del c.962+689_962+692del c.316+1228_316+1231del (n.316+1228_316+1231del) c.514+1228_514+1231del (n.514+1228_514+1231del) c.77_80del (n.77_80del) c.3592_3595del (p.Val1198ProfsTer?) c.3562_3565del (p.Val1188ProfsTer?) c.3688_3691del (p.Val1230ProfsTer?) c.2977_2980del (p.Val993ProfsTer?) c.3597+689_3597+692del (n.3597+689_3597+692del) c.3547+1228_3547+1231del (n.3547+1228_3547+1231del) c.2914_2917del (p.Val972ProfsTer?) c.2881_2884del (p.Val961ProfsTer?) c.3094_3097del (p.Val1032ProfsTer?)	gnomAD v4
X	g.53235092G>A	CA516673958	IQSEC2	c.3753C>T (p.Val1251=) c.1453+691C>T c.962+691C>T c.316+1230C>T (n.316+1230C>T) c.514+1230C>T (n.514+1230C>T) c.79C>T (n.79C>T) c.3594C>T (p.Val1198=) c.3564C>T (p.Val1188=) c.3690C>T (p.Val1230=) c.2979C>T (p.Val993=) c.3597+691C>T (n.3597+691C>T) c.3547+1230C>T (n.3547+1230C>T) c.2916C>T (p.Val972=) c.2883C>T (p.Val961=) c.3096C>T (p.Val1032=)
X	g.53235092G>C	CA516673960	IQSEC2	c.3753C>G (p.Val1251=) c.1453+691C>G c.962+691C>G c.316+1230C>G (n.316+1230C>G) c.514+1230C>G (n.514+1230C>G) c.79C>G (n.79C>G) c.3594C>G (p.Val1198=) c.3564C>G (p.Val1188=) c.3690C>G (p.Val1230=) c.2979C>G (p.Val993=) c.3597+691C>G (n.3597+691C>G) c.3547+1230C>G (n.3547+1230C>G) c.2916C>G (p.Val972=) c.2883C>G (p.Val961=) c.3096C>G (p.Val1032=)
X	g.53235092G>T	CA516673961	IQSEC2	c.3753C>A (p.Val1251=) c.1453+691C>A c.962+691C>A c.316+1230C>A (n.316+1230C>A) c.514+1230C>A (n.514+1230C>A) c.79C>A (n.79C>A) c.3594C>A (p.Val1198=) c.3564C>A (p.Val1188=) c.3690C>A (p.Val1230=) c.2979C>A (p.Val993=) c.3597+691C>A (n.3597+691C>A) c.3547+1230C>A (n.3547+1230C>A) c.2916C>A (p.Val972=) c.2883C>A (p.Val961=) c.3096C>A (p.Val1032=)	gnomAD v4
X	g.53235093A>C	CA413142163	IQSEC2	c.3752T>G (p.Val1251Gly) c.1453+690T>G c.962+690T>G c.316+1229T>G (n.316+1229T>G) c.514+1229T>G (n.514+1229T>G) c.78T>G (n.78T>G) c.3593T>G (p.Val1198Gly) c.3563T>G (p.Val1188Gly) c.3689T>G (p.Val1230Gly) c.2978T>G (p.Val993Gly) c.3597+690T>G (n.3597+690T>G) c.3547+1229T>G (n.3547+1229T>G) c.2915T>G (p.Val972Gly) c.2882T>G (p.Val961Gly) c.3095T>G (p.Val1032Gly)
X	g.53235093A>G	CA413142166	IQSEC2	c.3752T>C (p.Val1251Ala) c.1453+690T>C c.962+690T>C c.316+1229T>C (n.316+1229T>C) c.514+1229T>C (n.514+1229T>C) c.78T>C (n.78T>C) c.3593T>C (p.Val1198Ala) c.3563T>C (p.Val1188Ala) c.3689T>C (p.Val1230Ala) c.2978T>C (p.Val993Ala) c.3597+690T>C (n.3597+690T>C) c.3547+1229T>C (n.3547+1229T>C) c.2915T>C (p.Val972Ala) c.2882T>C (p.Val961Ala) c.3095T>C (p.Val1032Ala)
X	g.53235093A>T	CA413142169	IQSEC2	c.3752T>A (p.Val1251Asp) c.1453+690T>A c.962+690T>A c.316+1229T>A (n.316+1229T>A) c.514+1229T>A (n.514+1229T>A) c.78T>A (n.78T>A) c.3593T>A (p.Val1198Asp) c.3563T>A (p.Val1188Asp) c.3689T>A (p.Val1230Asp) c.2978T>A (p.Val993Asp) c.3597+690T>A (n.3597+690T>A) c.3547+1229T>A (n.3547+1229T>A) c.2915T>A (p.Val972Asp) c.2882T>A (p.Val961Asp) c.3095T>A (p.Val1032Asp)
X	g.53235094C>A	CA413142179	IQSEC2	c.3751G>T (p.Val1251Phe) c.1453+689G>T c.962+689G>T c.316+1228G>T (n.316+1228G>T) c.514+1228G>T (n.514+1228G>T) c.77G>T (n.77G>T) c.3592G>T (p.Val1198Phe) c.3562G>T (p.Val1188Phe) c.3688G>T (p.Val1230Phe) c.2977G>T (p.Val993Phe) c.3597+689G>T (n.3597+689G>T) c.3547+1228G>T (n.3547+1228G>T) c.2914G>T (p.Val972Phe) c.2881G>T (p.Val961Phe) c.3094G>T (p.Val1032Phe)
X	g.53235094C=	CA2429770690	IQSEC2	c.3751G= (p.Val1251=) c.1453+689G= c.962+689G= c.316+1228G= (n.316+1228G=) c.514+1228G= (n.514+1228G=) c.77G= (n.77G=) c.3592G= (p.Val1198=) c.3562G= (p.Val1188=) c.3688G= (p.Val1230=) c.2977G= (p.Val993=) c.3597+689G= (n.3597+689G=) c.3547+1228G= (n.3547+1228G=) c.2914G= (p.Val972=) c.2881G= (p.Val961=) c.3094G= (p.Val1032=)
X	g.53235094C>G	CA413142175	IQSEC2	c.3751G>C (p.Val1251Leu) c.1453+689G>C c.962+689G>C c.316+1228G>C (n.316+1228G>C) c.514+1228G>C (n.514+1228G>C) c.77G>C (n.77G>C) c.3592G>C (p.Val1198Leu) c.3562G>C (p.Val1188Leu) c.3688G>C (p.Val1230Leu) c.2977G>C (p.Val993Leu) c.3597+689G>C (n.3597+689G>C) c.3547+1228G>C (n.3547+1228G>C) c.2914G>C (p.Val972Leu) c.2881G>C (p.Val961Leu) c.3094G>C (p.Val1032Leu)	dbSNP
X	g.53235094C>T	CA413142173	IQSEC2	c.3751G>A (p.Val1251Ile) c.1453+689G>A c.962+689G>A c.316+1228G>A (n.316+1228G>A) c.514+1228G>A (n.514+1228G>A) c.77G>A (n.77G>A) c.3592G>A (p.Val1198Ile) c.3562G>A (p.Val1188Ile) c.3688G>A (p.Val1230Ile) c.2977G>A (p.Val993Ile) c.3597+689G>A (n.3597+689G>A) c.3547+1228G>A (n.3547+1228G>A) c.2914G>A (p.Val972Ile) c.2881G>A (p.Val961Ile) c.3094G>A (p.Val1032Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235095G>A	CA329162210	IQSEC2	c.3750C>T (p.Pro1250=) c.1453+688C>T c.962+688C>T c.316+1227C>T (n.316+1227C>T) c.514+1227C>T (n.514+1227C>T) c.76C>T (n.76C>T) c.3591C>T (p.Pro1197=) c.3561C>T (p.Pro1187=) c.3687C>T (p.Pro1229=) c.2976C>T (p.Pro992=) c.3597+688C>T (n.3597+688C>T) c.3547+1227C>T (n.3547+1227C>T) c.2913C>T (p.Pro971=) c.2880C>T (p.Pro960=) c.3093C>T (p.Pro1031=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
X	g.53235095G>C	CA516673966	IQSEC2	c.3750C>G (p.Pro1250=) c.1453+688C>G c.962+688C>G c.316+1227C>G (n.316+1227C>G) c.514+1227C>G (n.514+1227C>G) c.76C>G (n.76C>G) c.3591C>G (p.Pro1197=) c.3561C>G (p.Pro1187=) c.3687C>G (p.Pro1229=) c.2976C>G (p.Pro992=) c.3597+688C>G (n.3597+688C>G) c.3547+1227C>G (n.3547+1227C>G) c.2913C>G (p.Pro971=) c.2880C>G (p.Pro960=) c.3093C>G (p.Pro1031=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.53235095G=	CA2429770691	IQSEC2	c.3750C= (p.Pro1250=) c.1453+688C= c.962+688C= c.316+1227C= (n.316+1227C=) c.514+1227C= (n.514+1227C=) c.76C= (n.76C=) c.3591C= (p.Pro1197=) c.3561C= (p.Pro1187=) c.3687C= (p.Pro1229=) c.2976C= (p.Pro992=) c.3597+688C= (n.3597+688C=) c.3547+1227C= (n.3547+1227C=) c.2913C= (p.Pro971=) c.2880C= (p.Pro960=) c.3093C= (p.Pro1031=)
X	g.53235095G>T	CA516673967	IQSEC2	c.3750C>A (p.Pro1250=) c.1453+688C>A c.962+688C>A c.316+1227C>A (n.316+1227C>A) c.514+1227C>A (n.514+1227C>A) c.76C>A (n.76C>A) c.3591C>A (p.Pro1197=) c.3561C>A (p.Pro1187=) c.3687C>A (p.Pro1229=) c.2976C>A (p.Pro992=) c.3597+688C>A (n.3597+688C>A) c.3547+1227C>A (n.3547+1227C>A) c.2913C>A (p.Pro971=) c.2880C>A (p.Pro960=) c.3093C>A (p.Pro1031=)
X	g.53235096G>A	CA413142182	IQSEC2	c.3749C>T (p.Pro1250Leu) c.1453+687C>T c.962+687C>T c.316+1226C>T (n.316+1226C>T) c.514+1226C>T (n.514+1226C>T) n.570C>T c.75C>T (n.75C>T) c.3590C>T (p.Pro1197Leu) c.3560C>T (p.Pro1187Leu) c.3686C>T (p.Pro1229Leu) c.2975C>T (p.Pro992Leu) c.3597+687C>T (n.3597+687C>T) c.3547+1226C>T (n.3547+1226C>T) c.2912C>T (p.Pro971Leu) c.2879C>T (p.Pro960Leu) c.3092C>T (p.Pro1031Leu)
X	g.53235096G>C	CA413142185	IQSEC2	c.3749C>G (p.Pro1250Arg) c.1453+687C>G c.962+687C>G c.316+1226C>G (n.316+1226C>G) c.514+1226C>G (n.514+1226C>G) n.570C>G c.75C>G (n.75C>G) c.3590C>G (p.Pro1197Arg) c.3560C>G (p.Pro1187Arg) c.3686C>G (p.Pro1229Arg) c.2975C>G (p.Pro992Arg) c.3597+687C>G (n.3597+687C>G) c.3547+1226C>G (n.3547+1226C>G) c.2912C>G (p.Pro971Arg) c.2879C>G (p.Pro960Arg) c.3092C>G (p.Pro1031Arg)
X	g.53235096G>T	CA413142189	IQSEC2	c.3749C>A (p.Pro1250His) c.1453+687C>A c.962+687C>A c.316+1226C>A (n.316+1226C>A) c.514+1226C>A (n.514+1226C>A) n.570C>A c.75C>A (n.75C>A) c.3590C>A (p.Pro1197His) c.3560C>A (p.Pro1187His) c.3686C>A (p.Pro1229His) c.2975C>A (p.Pro992His) c.3597+687C>A (n.3597+687C>A) c.3547+1226C>A (n.3547+1226C>A) c.2912C>A (p.Pro971His) c.2879C>A (p.Pro960His) c.3092C>A (p.Pro1031His)
X	g.53235097G>A	CA413142192	IQSEC2	c.3748C>T (p.Pro1250Ser) c.1453+686C>T c.962+686C>T c.316+1225C>T (n.316+1225C>T) c.514+1225C>T (n.514+1225C>T) n.569C>T c.74C>T (n.74C>T) c.3589C>T (p.Pro1197Ser) c.3559C>T (p.Pro1187Ser) c.3685C>T (p.Pro1229Ser) c.2974C>T (p.Pro992Ser) c.3597+686C>T (n.3597+686C>T) c.3547+1225C>T (n.3547+1225C>T) c.2911C>T (p.Pro971Ser) c.2878C>T (p.Pro960Ser) c.3091C>T (p.Pro1031Ser)
X	g.53235097G>C	CA413142195	IQSEC2	c.3748C>G (p.Pro1250Ala) c.1453+686C>G c.962+686C>G c.316+1225C>G (n.316+1225C>G) c.514+1225C>G (n.514+1225C>G) n.569C>G c.74C>G (n.74C>G) c.3589C>G (p.Pro1197Ala) c.3559C>G (p.Pro1187Ala) c.3685C>G (p.Pro1229Ala) c.2974C>G (p.Pro992Ala) c.3597+686C>G (n.3597+686C>G) c.3547+1225C>G (n.3547+1225C>G) c.2911C>G (p.Pro971Ala) c.2878C>G (p.Pro960Ala) c.3091C>G (p.Pro1031Ala)	gnomAD v4
X	g.53235097G>T	CA413142198	IQSEC2	c.3748C>A (p.Pro1250Thr) c.1453+686C>A c.962+686C>A c.316+1225C>A (n.316+1225C>A) c.514+1225C>A (n.514+1225C>A) n.569C>A c.74C>A (n.74C>A) c.3589C>A (p.Pro1197Thr) c.3559C>A (p.Pro1187Thr) c.3685C>A (p.Pro1229Thr) c.2974C>A (p.Pro992Thr) c.3597+686C>A (n.3597+686C>A) c.3547+1225C>A (n.3547+1225C>A) c.2911C>A (p.Pro971Thr) c.2878C>A (p.Pro960Thr) c.3091C>A (p.Pro1031Thr)	gnomAD v4
X	g.53235098_53235126del	CA2693794361	IQSEC2	c.3720_3748del (p.Pro1241ArgfsTer?) c.1453+658_1453+686del c.962+658_962+686del c.316+1197_316+1225del (n.316+1197_316+1225del) c.514+1197_514+1225del (n.514+1197_514+1225del) n.541_569del c.46_74del (n.46_74del) c.3561_3589del (p.Pro1188ArgfsTer?) c.3531_3559del (p.Pro1178ArgfsTer?) c.3657_3685del (p.Pro1220ArgfsTer?) c.2946_2974del (p.Pro983ArgfsTer?) c.3597+658_3597+686del (n.3597+658_3597+686del) c.3547+1197_3547+1225del (n.3547+1197_3547+1225del) c.2883_2911del (p.Pro962ArgfsTer?) c.2850_2878del (p.Pro951ArgfsTer?) c.3063_3091del (p.Pro1022ArgfsTer?)	gnomAD v4
X	g.53235098C>A	CA413142203	IQSEC2	c.3747G>T (p.Arg1249Ser) c.1453+685G>T c.962+685G>T c.316+1224G>T (n.316+1224G>T) c.514+1224G>T (n.514+1224G>T) n.568G>T c.73G>T (n.73G>T) c.3588G>T (p.Arg1196Ser) c.3558G>T (p.Arg1186Ser) c.3684G>T (p.Arg1228Ser) c.2973G>T (p.Arg991Ser) c.3597+685G>T (n.3597+685G>T) c.3547+1224G>T (n.3547+1224G>T) c.2910G>T (p.Arg970Ser) c.2877G>T (p.Arg959Ser) c.3090G>T (p.Arg1030Ser)
X	g.53235098C>G	CA413142206	IQSEC2	c.3747G>C (p.Arg1249Ser) c.1453+685G>C c.962+685G>C c.316+1224G>C (n.316+1224G>C) c.514+1224G>C (n.514+1224G>C) n.568G>C c.73G>C (n.73G>C) c.3588G>C (p.Arg1196Ser) c.3558G>C (p.Arg1186Ser) c.3684G>C (p.Arg1228Ser) c.2973G>C (p.Arg991Ser) c.3597+685G>C (n.3597+685G>C) c.3547+1224G>C (n.3547+1224G>C) c.2910G>C (p.Arg970Ser) c.2877G>C (p.Arg959Ser) c.3090G>C (p.Arg1030Ser)
X	g.53235098C>T	CA516673974	IQSEC2	c.3747G>A (p.Arg1249=) c.1453+685G>A c.962+685G>A c.316+1224G>A (n.316+1224G>A) c.514+1224G>A (n.514+1224G>A) n.568G>A c.73G>A (n.73G>A) c.3588G>A (p.Arg1196=) c.3558G>A (p.Arg1186=) c.3684G>A (p.Arg1228=) c.2973G>A (p.Arg991=) c.3597+685G>A (n.3597+685G>A) c.3547+1224G>A (n.3547+1224G>A) c.2910G>A (p.Arg970=) c.2877G>A (p.Arg959=) c.3090G>A (p.Arg1030=)
X	g.53235098_53235119del	CA2693794365	IQSEC2	c.3726_3747del (p.Glu1243ProfsTer?) c.1453+664_1453+685del c.962+664_962+685del c.316+1203_316+1224del (n.316+1203_316+1224del) c.514+1203_514+1224del (n.514+1203_514+1224del) n.547_568del c.52_73del (n.52_73del) c.3567_3588del (p.Glu1190ProfsTer?) c.3537_3558del (p.Glu1180ProfsTer?) c.3663_3684del (p.Glu1222ProfsTer?) c.2952_2973del (p.Glu985ProfsTer?) c.3597+664_3597+685del (n.3597+664_3597+685del) c.3547+1203_3547+1224del (n.3547+1203_3547+1224del) c.2889_2910del (p.Glu964ProfsTer?) c.2856_2877del (p.Glu953ProfsTer?) c.3069_3090del (p.Glu1024ProfsTer?)	gnomAD v4
X	g.53235098_53235122del	CA1133160106	IQSEC2	c.3723_3747del (p.Glu1243SerfsTer?) c.1453+661_1453+685del c.962+661_962+685del c.316+1200_316+1224del (n.316+1200_316+1224del) c.514+1200_514+1224del (n.514+1200_514+1224del) n.544_568del c.49_73del (n.49_73del) c.3564_3588del (p.Glu1190SerfsTer?) c.3534_3558del (p.Glu1180SerfsTer?) c.3660_3684del (p.Glu1222SerfsTer?) c.2949_2973del (p.Glu985SerfsTer?) c.3597+661_3597+685del (n.3597+661_3597+685del) c.3547+1200_3547+1224del (n.3547+1200_3547+1224del) c.2886_2910del (p.Glu964SerfsTer?) c.2853_2877del (p.Glu953SerfsTer?) c.3066_3090del (p.Glu1024SerfsTer?)	gnomAD v4
X	g.53235098_53235125del	CA2693794370	IQSEC2	c.3720_3747del (p.Pro1242SerfsTer?) c.1453+658_1453+685del c.962+658_962+685del c.316+1197_316+1224del (n.316+1197_316+1224del) c.514+1197_514+1224del (n.514+1197_514+1224del) n.541_568del c.46_73del (n.46_73del) c.3561_3588del (p.Pro1189SerfsTer?) c.3531_3558del (p.Pro1179SerfsTer?) c.3657_3684del (p.Pro1221SerfsTer?) c.2946_2973del (p.Pro984SerfsTer?) c.3597+658_3597+685del (n.3597+658_3597+685del) c.3547+1197_3547+1224del (n.3547+1197_3547+1224del) c.2883_2910del (p.Pro963SerfsTer?) c.2850_2877del (p.Pro952SerfsTer?) c.3063_3090del (p.Pro1023SerfsTer?)	gnomAD v4
X	g.53235099C>A	CA413142210	IQSEC2	c.3746G>T (p.Arg1249Met) c.1453+684G>T c.962+684G>T c.316+1223G>T (n.316+1223G>T) c.514+1223G>T (n.514+1223G>T) n.567G>T c.72G>T (n.72G>T) c.3587G>T (p.Arg1196Met) c.3557G>T (p.Arg1186Met) c.3683G>T (p.Arg1228Met) c.2972G>T (p.Arg991Met) c.3597+684G>T (n.3597+684G>T) c.3547+1223G>T (n.3547+1223G>T) c.2909G>T (p.Arg970Met) c.2876G>T (p.Arg959Met) c.3089G>T (p.Arg1030Met)	gnomAD v4
X	g.53235099C>G	CA413142213	IQSEC2	c.3746G>C (p.Arg1249Thr) c.1453+684G>C c.962+684G>C c.316+1223G>C (n.316+1223G>C) c.514+1223G>C (n.514+1223G>C) n.567G>C c.72G>C (n.72G>C) c.3587G>C (p.Arg1196Thr) c.3557G>C (p.Arg1186Thr) c.3683G>C (p.Arg1228Thr) c.2972G>C (p.Arg991Thr) c.3597+684G>C (n.3597+684G>C) c.3547+1223G>C (n.3547+1223G>C) c.2909G>C (p.Arg970Thr) c.2876G>C (p.Arg959Thr) c.3089G>C (p.Arg1030Thr)
X	g.53235099C>T	CA413142217	IQSEC2	c.3746G>A (p.Arg1249Lys) c.1453+684G>A c.962+684G>A c.316+1223G>A (n.316+1223G>A) c.514+1223G>A (n.514+1223G>A) n.567G>A c.72G>A (n.72G>A) c.3587G>A (p.Arg1196Lys) c.3557G>A (p.Arg1186Lys) c.3683G>A (p.Arg1228Lys) c.2972G>A (p.Arg991Lys) c.3597+684G>A (n.3597+684G>A) c.3547+1223G>A (n.3547+1223G>A) c.2909G>A (p.Arg970Lys) c.2876G>A (p.Arg959Lys) c.3089G>A (p.Arg1030Lys)
X	g.53235101_53235102del	CA2579614735	IQSEC2	c.3745_3746del (p.Arg1249AlafsTer?) c.1453+683_1453+684del c.962+683_962+684del c.316+1222_316+1223del (n.316+1222_316+1223del) c.514+1222_514+1223del (n.514+1222_514+1223del) n.566_567del c.71_72del (n.71_72del) c.3586_3587del (p.Arg1196AlafsTer?) c.3556_3557del (p.Arg1186AlafsTer?) c.3682_3683del (p.Arg1228AlafsTer?) c.2971_2972del (p.Arg991AlafsTer?) c.3597+683_3597+684del (n.3597+683_3597+684del) c.3547+1222_3547+1223del (n.3547+1222_3547+1223del) c.2908_2909del (p.Arg970AlafsTer?) c.2875_2876del (p.Arg959AlafsTer?) c.3088_3089del (p.Arg1030AlafsTer?)
X	g.53235100T>A	CA413142222	IQSEC2	c.3745A>T (p.Arg1249Trp) c.1453+683A>T c.962+683A>T c.316+1222A>T (n.316+1222A>T) c.514+1222A>T (n.514+1222A>T) n.566A>T c.71A>T (n.71A>T) c.3586A>T (p.Arg1196Trp) c.3556A>T (p.Arg1186Trp) c.3682A>T (p.Arg1228Trp) c.2971A>T (p.Arg991Trp) c.3597+683A>T (n.3597+683A>T) c.3547+1222A>T (n.3547+1222A>T) c.2908A>T (p.Arg970Trp) c.2875A>T (p.Arg959Trp) c.3088A>T (p.Arg1030Trp)
X	g.53235100T>C	CA413142224	IQSEC2	c.3745A>G (p.Arg1249Gly) c.1453+683A>G c.962+683A>G c.316+1222A>G (n.316+1222A>G) c.514+1222A>G (n.514+1222A>G) n.566A>G c.71A>G (n.71A>G) c.3586A>G (p.Arg1196Gly) c.3556A>G (p.Arg1186Gly) c.3682A>G (p.Arg1228Gly) c.2971A>G (p.Arg991Gly) c.3597+683A>G (n.3597+683A>G) c.3547+1222A>G (n.3547+1222A>G) c.2908A>G (p.Arg970Gly) c.2875A>G (p.Arg959Gly) c.3088A>G (p.Arg1030Gly)
X	g.53235100T>G	CA516673978	IQSEC2	c.3745A>C (p.Arg1249=) c.1453+683A>C c.962+683A>C c.316+1222A>C (n.316+1222A>C) c.514+1222A>C (n.514+1222A>C) n.566A>C c.71A>C (n.71A>C) c.3586A>C (p.Arg1196=) c.3556A>C (p.Arg1186=) c.3682A>C (p.Arg1228=) c.2971A>C (p.Arg991=) c.3597+683A>C (n.3597+683A>C) c.3547+1222A>C (n.3547+1222A>C) c.2908A>C (p.Arg970=) c.2875A>C (p.Arg959=) c.3088A>C (p.Arg1030=)

Number of alleles fetched