Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53234897_53235077delCA2499226779IQSEC2c.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
Xg.53234905G>ACA413140905IQSEC2c.3940C>T (p.Gln1314Ter)
c.1453+878C>T
c.962+878C>T
c.316+1417C>T (n.316+1417C>T)
c.514+1417C>T (n.514+1417C>T)
c.*266C>T (n.*266C>T)
c.3781C>T (p.Gln1261Ter)
c.3751C>T (p.Gln1251Ter)
c.3877C>T (p.Gln1293Ter)
c.3166C>T (p.Gln1056Ter)
c.3597+878C>T (n.3597+878C>T)
c.3547+1417C>T (n.3547+1417C>T)
c.3103C>T (p.Gln1035Ter)
c.3070C>T (p.Gln1024Ter)
c.3283C>T (p.Gln1095Ter)
 ClinVar
Xg.53234905G>CCA413140899IQSEC2c.3940C>G (p.Gln1314Glu)
c.1453+878C>G
c.962+878C>G
c.316+1417C>G (n.316+1417C>G)
c.514+1417C>G (n.514+1417C>G)
c.*266C>G (n.*266C>G)
c.3781C>G (p.Gln1261Glu)
c.3751C>G (p.Gln1251Glu)
c.3877C>G (p.Gln1293Glu)
c.3166C>G (p.Gln1056Glu)
c.3597+878C>G (n.3597+878C>G)
c.3547+1417C>G (n.3547+1417C>G)
c.3103C>G (p.Gln1035Glu)
c.3070C>G (p.Gln1024Glu)
c.3283C>G (p.Gln1095Glu)
Xg.53234905G>TCA413140902IQSEC2c.3940C>A (p.Gln1314Lys)
c.1453+878C>A
c.962+878C>A
c.316+1417C>A (n.316+1417C>A)
c.514+1417C>A (n.514+1417C>A)
c.*266C>A (n.*266C>A)
c.3781C>A (p.Gln1261Lys)
c.3751C>A (p.Gln1251Lys)
c.3877C>A (p.Gln1293Lys)
c.3166C>A (p.Gln1056Lys)
c.3597+878C>A (n.3597+878C>A)
c.3547+1417C>A (n.3547+1417C>A)
c.3103C>A (p.Gln1035Lys)
c.3070C>A (p.Gln1024Lys)
c.3283C>A (p.Gln1095Lys)
Xg.53234906C>ACA516673569IQSEC2c.3939G>T (p.Gly1313=)
c.1453+877G>T
c.962+877G>T
c.316+1416G>T (n.316+1416G>T)
c.514+1416G>T (n.514+1416G>T)
c.*265G>T (n.*265G>T)
c.3780G>T (p.Gly1260=)
c.3750G>T (p.Gly1250=)
c.3876G>T (p.Gly1292=)
c.3165G>T (p.Gly1055=)
c.3597+877G>T (n.3597+877G>T)
c.3547+1416G>T (n.3547+1416G>T)
c.3102G>T (p.Gly1034=)
c.3069G>T (p.Gly1023=)
c.3282G>T (p.Gly1094=)
Xg.53234906C>GCA516673571IQSEC2c.3939G>C (p.Gly1313=)
c.1453+877G>C
c.962+877G>C
c.316+1416G>C (n.316+1416G>C)
c.514+1416G>C (n.514+1416G>C)
c.*265G>C (n.*265G>C)
c.3780G>C (p.Gly1260=)
c.3750G>C (p.Gly1250=)
c.3876G>C (p.Gly1292=)
c.3165G>C (p.Gly1055=)
c.3597+877G>C (n.3597+877G>C)
c.3547+1416G>C (n.3547+1416G>C)
c.3102G>C (p.Gly1034=)
c.3069G>C (p.Gly1023=)
c.3282G>C (p.Gly1094=)
Xg.53234906C>TCA516673574IQSEC2c.3939G>A (p.Gly1313=)
c.1453+877G>A
c.962+877G>A
c.316+1416G>A (n.316+1416G>A)
c.514+1416G>A (n.514+1416G>A)
c.*265G>A (n.*265G>A)
c.3780G>A (p.Gly1260=)
c.3750G>A (p.Gly1250=)
c.3876G>A (p.Gly1292=)
c.3165G>A (p.Gly1055=)
c.3597+877G>A (n.3597+877G>A)
c.3547+1416G>A (n.3547+1416G>A)
c.3102G>A (p.Gly1034=)
c.3069G>A (p.Gly1023=)
c.3282G>A (p.Gly1094=)
 gnomAD v4
Xg.53234908delCA2695234288IQSEC2c.3939del (p.Gln1314SerfsTer?)
c.1453+877del
c.962+877del
c.316+1416del (n.316+1416del)
c.514+1416del (n.514+1416del)
c.*265del (n.*265del)
c.3780del (p.Gln1261SerfsTer?)
c.3750del (p.Gln1251SerfsTer?)
c.3876del (p.Gln1293SerfsTer?)
c.3165del (p.Gln1056SerfsTer?)
c.3597+877del (n.3597+877del)
c.3547+1416del (n.3547+1416del)
c.3102del (p.Gln1035SerfsTer?)
c.3069del (p.Gln1024SerfsTer?)
c.3282del (p.Gln1095SerfsTer?)
Xg.53234907C>ACA413140907IQSEC2c.3938G>T (p.Gly1313Val)
c.1453+876G>T
c.962+876G>T
c.316+1415G>T (n.316+1415G>T)
c.514+1415G>T (n.514+1415G>T)
c.*264G>T (n.*264G>T)
c.3779G>T (p.Gly1260Val)
c.3749G>T (p.Gly1250Val)
c.3875G>T (p.Gly1292Val)
c.3164G>T (p.Gly1055Val)
c.3597+876G>T (n.3597+876G>T)
c.3547+1415G>T (n.3547+1415G>T)
c.3101G>T (p.Gly1034Val)
c.3068G>T (p.Gly1023Val)
c.3281G>T (p.Gly1094Val)
Xg.53234907C>GCA413140910IQSEC2c.3938G>C (p.Gly1313Ala)
c.1453+876G>C
c.962+876G>C
c.316+1415G>C (n.316+1415G>C)
c.514+1415G>C (n.514+1415G>C)
c.*264G>C (n.*264G>C)
c.3779G>C (p.Gly1260Ala)
c.3749G>C (p.Gly1250Ala)
c.3875G>C (p.Gly1292Ala)
c.3164G>C (p.Gly1055Ala)
c.3597+876G>C (n.3597+876G>C)
c.3547+1415G>C (n.3547+1415G>C)
c.3101G>C (p.Gly1034Ala)
c.3068G>C (p.Gly1023Ala)
c.3281G>C (p.Gly1094Ala)
Xg.53234907C>TCA413140913IQSEC2c.3938G>A (p.Gly1313Glu)
c.1453+876G>A
c.962+876G>A
c.316+1415G>A (n.316+1415G>A)
c.514+1415G>A (n.514+1415G>A)
c.*264G>A (n.*264G>A)
c.3779G>A (p.Gly1260Glu)
c.3749G>A (p.Gly1250Glu)
c.3875G>A (p.Gly1292Glu)
c.3164G>A (p.Gly1055Glu)
c.3597+876G>A (n.3597+876G>A)
c.3547+1415G>A (n.3547+1415G>A)
c.3101G>A (p.Gly1034Glu)
c.3068G>A (p.Gly1023Glu)
c.3281G>A (p.Gly1094Glu)
Xg.53234908C>ACA413140916IQSEC2c.3937G>T (p.Gly1313Trp)
c.1453+875G>T
c.962+875G>T
c.316+1414G>T (n.316+1414G>T)
c.514+1414G>T (n.514+1414G>T)
c.*263G>T (n.*263G>T)
c.3778G>T (p.Gly1260Trp)
c.3748G>T (p.Gly1250Trp)
c.3874G>T (p.Gly1292Trp)
c.3163G>T (p.Gly1055Trp)
c.3597+875G>T (n.3597+875G>T)
c.3547+1414G>T (n.3547+1414G>T)
c.3100G>T (p.Gly1034Trp)
c.3067G>T (p.Gly1023Trp)
c.3280G>T (p.Gly1094Trp)
Xg.53234908C=CA2429770632IQSEC2c.3937G= (p.Gly1313=)
c.1453+875G=
c.962+875G=
c.316+1414G= (n.316+1414G=)
c.514+1414G= (n.514+1414G=)
c.*263G= (n.*263G=)
c.3778G= (p.Gly1260=)
c.3748G= (p.Gly1250=)
c.3874G= (p.Gly1292=)
c.3163G= (p.Gly1055=)
c.3597+875G= (n.3597+875G=)
c.3547+1414G= (n.3547+1414G=)
c.3100G= (p.Gly1034=)
c.3067G= (p.Gly1023=)
c.3280G= (p.Gly1094=)
Xg.53234908C>GCA413140918IQSEC2c.3937G>C (p.Gly1313Arg)
c.1453+875G>C
c.962+875G>C
c.316+1414G>C (n.316+1414G>C)
c.514+1414G>C (n.514+1414G>C)
c.*263G>C (n.*263G>C)
c.3778G>C (p.Gly1260Arg)
c.3748G>C (p.Gly1250Arg)
c.3874G>C (p.Gly1292Arg)
c.3163G>C (p.Gly1055Arg)
c.3597+875G>C (n.3597+875G>C)
c.3547+1414G>C (n.3547+1414G>C)
c.3100G>C (p.Gly1034Arg)
c.3067G>C (p.Gly1023Arg)
c.3280G>C (p.Gly1094Arg)
Xg.53234908C>TCA413140922IQSEC2c.3937G>A (p.Gly1313Arg)
c.1453+875G>A
c.962+875G>A
c.316+1414G>A (n.316+1414G>A)
c.514+1414G>A (n.514+1414G>A)
c.*263G>A (n.*263G>A)
c.3778G>A (p.Gly1260Arg)
c.3748G>A (p.Gly1250Arg)
c.3874G>A (p.Gly1292Arg)
c.3163G>A (p.Gly1055Arg)
c.3597+875G>A (n.3597+875G>A)
c.3547+1414G>A (n.3547+1414G>A)
c.3100G>A (p.Gly1034Arg)
c.3067G>A (p.Gly1023Arg)
c.3280G>A (p.Gly1094Arg)
 dbSNP gnomAD v2
Xg.53234909A=CA2429770633IQSEC2c.3936T= (p.Asp1312=)
c.1453+874T=
c.962+874T=
c.316+1413T= (n.316+1413T=)
c.514+1413T= (n.514+1413T=)
c.*262T= (n.*262T=)
c.3777T= (p.Asp1259=)
c.3747T= (p.Asp1249=)
c.3873T= (p.Asp1291=)
c.3162T= (p.Asp1054=)
c.3597+874T= (n.3597+874T=)
c.3547+1413T= (n.3547+1413T=)
c.3099T= (p.Asp1033=)
c.3066T= (p.Asp1022=)
c.3279T= (p.Asp1093=)
Xg.53234909A>CCA413140924IQSEC2c.3936T>G (p.Asp1312Glu)
c.1453+874T>G
c.962+874T>G
c.316+1413T>G (n.316+1413T>G)
c.514+1413T>G (n.514+1413T>G)
c.*262T>G (n.*262T>G)
c.3777T>G (p.Asp1259Glu)
c.3747T>G (p.Asp1249Glu)
c.3873T>G (p.Asp1291Glu)
c.3162T>G (p.Asp1054Glu)
c.3597+874T>G (n.3597+874T>G)
c.3547+1413T>G (n.3547+1413T>G)
c.3099T>G (p.Asp1033Glu)
c.3066T>G (p.Asp1022Glu)
c.3279T>G (p.Asp1093Glu)
Xg.53234909A>GCA516673577IQSEC2c.3936T>C (p.Asp1312=)
c.1453+874T>C
c.962+874T>C
c.316+1413T>C (n.316+1413T>C)
c.514+1413T>C (n.514+1413T>C)
c.*262T>C (n.*262T>C)
c.3777T>C (p.Asp1259=)
c.3747T>C (p.Asp1249=)
c.3873T>C (p.Asp1291=)
c.3162T>C (p.Asp1054=)
c.3597+874T>C (n.3597+874T>C)
c.3547+1413T>C (n.3547+1413T>C)
c.3099T>C (p.Asp1033=)
c.3066T>C (p.Asp1022=)
c.3279T>C (p.Asp1093=)
 dbSNP
Xg.53234909A>TCA413140927IQSEC2c.3936T>A (p.Asp1312Glu)
c.1453+874T>A
c.962+874T>A
c.316+1413T>A (n.316+1413T>A)
c.514+1413T>A (n.514+1413T>A)
c.*262T>A (n.*262T>A)
c.3777T>A (p.Asp1259Glu)
c.3747T>A (p.Asp1249Glu)
c.3873T>A (p.Asp1291Glu)
c.3162T>A (p.Asp1054Glu)
c.3597+874T>A (n.3597+874T>A)
c.3547+1413T>A (n.3547+1413T>A)
c.3099T>A (p.Asp1033Glu)
c.3066T>A (p.Asp1022Glu)
c.3279T>A (p.Asp1093Glu)
Xg.53234910T>ACA413140930IQSEC2c.3935A>T (p.Asp1312Val)
c.1453+873A>T
c.962+873A>T
c.316+1412A>T (n.316+1412A>T)
c.514+1412A>T (n.514+1412A>T)
c.*261A>T (n.*261A>T)
c.3776A>T (p.Asp1259Val)
c.3746A>T (p.Asp1249Val)
c.3872A>T (p.Asp1291Val)
c.3161A>T (p.Asp1054Val)
c.3597+873A>T (n.3597+873A>T)
c.3547+1412A>T (n.3547+1412A>T)
c.3098A>T (p.Asp1033Val)
c.3065A>T (p.Asp1022Val)
c.3278A>T (p.Asp1093Val)
Xg.53234910T>CCA413140932IQSEC2c.3935A>G (p.Asp1312Gly)
c.1453+873A>G
c.962+873A>G
c.316+1412A>G (n.316+1412A>G)
c.514+1412A>G (n.514+1412A>G)
c.*261A>G (n.*261A>G)
c.3776A>G (p.Asp1259Gly)
c.3746A>G (p.Asp1249Gly)
c.3872A>G (p.Asp1291Gly)
c.3161A>G (p.Asp1054Gly)
c.3597+873A>G (n.3597+873A>G)
c.3547+1412A>G (n.3547+1412A>G)
c.3098A>G (p.Asp1033Gly)
c.3065A>G (p.Asp1022Gly)
c.3278A>G (p.Asp1093Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234910T>GCA413140934IQSEC2c.3935A>C (p.Asp1312Ala)
c.1453+873A>C
c.962+873A>C
c.316+1412A>C (n.316+1412A>C)
c.514+1412A>C (n.514+1412A>C)
c.*261A>C (n.*261A>C)
c.3776A>C (p.Asp1259Ala)
c.3746A>C (p.Asp1249Ala)
c.3872A>C (p.Asp1291Ala)
c.3161A>C (p.Asp1054Ala)
c.3597+873A>C (n.3597+873A>C)
c.3547+1412A>C (n.3547+1412A>C)
c.3098A>C (p.Asp1033Ala)
c.3065A>C (p.Asp1022Ala)
c.3278A>C (p.Asp1093Ala)
Xg.53234910T=CA2429770634IQSEC2c.3935A= (p.Asp1312=)
c.1453+873A=
c.962+873A=
c.316+1412A= (n.316+1412A=)
c.514+1412A= (n.514+1412A=)
c.*261A= (n.*261A=)
c.3776A= (p.Asp1259=)
c.3746A= (p.Asp1249=)
c.3872A= (p.Asp1291=)
c.3161A= (p.Asp1054=)
c.3597+873A= (n.3597+873A=)
c.3547+1412A= (n.3547+1412A=)
c.3098A= (p.Asp1033=)
c.3065A= (p.Asp1022=)
c.3278A= (p.Asp1093=)
Xg.53234911C>ACA413140943IQSEC2c.3934G>T (p.Asp1312Tyr)
c.1453+872G>T
c.962+872G>T
c.316+1411G>T (n.316+1411G>T)
c.514+1411G>T (n.514+1411G>T)
c.*260G>T (n.*260G>T)
c.3775G>T (p.Asp1259Tyr)
c.3745G>T (p.Asp1249Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3160G>T (p.Asp1054Tyr)
c.3597+872G>T (n.3597+872G>T)
c.3547+1411G>T (n.3547+1411G>T)
c.3097G>T (p.Asp1033Tyr)
c.3064G>T (p.Asp1022Tyr)
c.3277G>T (p.Asp1093Tyr)
Xg.53234911C=CA2429770635IQSEC2c.3934G= (p.Asp1312=)
c.1453+872G=
c.962+872G=
c.316+1411G= (n.316+1411G=)
c.514+1411G= (n.514+1411G=)
c.*260G= (n.*260G=)
c.3775G= (p.Asp1259=)
c.3745G= (p.Asp1249=)
c.3871G= (p.Asp1291=)
c.3160G= (p.Asp1054=)
c.3597+872G= (n.3597+872G=)
c.3547+1411G= (n.3547+1411G=)
c.3097G= (p.Asp1033=)
c.3064G= (p.Asp1022=)
c.3277G= (p.Asp1093=)
Xg.53234911C>GCA413140938IQSEC2c.3934G>C (p.Asp1312His)
c.1453+872G>C
c.962+872G>C
c.316+1411G>C (n.316+1411G>C)
c.514+1411G>C (n.514+1411G>C)
c.*260G>C (n.*260G>C)
c.3775G>C (p.Asp1259His)
c.3745G>C (p.Asp1249His)
c.3871G>C (p.Asp1291His)
c.3160G>C (p.Asp1054His)
c.3597+872G>C (n.3597+872G>C)
c.3547+1411G>C (n.3547+1411G>C)
c.3097G>C (p.Asp1033His)
c.3064G>C (p.Asp1022His)
c.3277G>C (p.Asp1093His)
 COSMIC COSMIC
Xg.53234911C>TCA413140940IQSEC2c.3934G>A (p.Asp1312Asn)
c.1453+872G>A
c.962+872G>A
c.316+1411G>A (n.316+1411G>A)
c.514+1411G>A (n.514+1411G>A)
c.*260G>A (n.*260G>A)
c.3775G>A (p.Asp1259Asn)
c.3745G>A (p.Asp1249Asn)
c.3871G>A (p.Asp1291Asn)
c.3160G>A (p.Asp1054Asn)
c.3597+872G>A (n.3597+872G>A)
c.3547+1411G>A (n.3547+1411G>A)
c.3097G>A (p.Asp1033Asn)
c.3064G>A (p.Asp1022Asn)
c.3277G>A (p.Asp1093Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234912A>CCA516673584IQSEC2c.3933T>G (p.Pro1311=)
c.1453+871T>G
c.962+871T>G
c.316+1410T>G (n.316+1410T>G)
c.514+1410T>G (n.514+1410T>G)
c.*259T>G (n.*259T>G)
c.3774T>G (p.Pro1258=)
c.3744T>G (p.Pro1248=)
c.3870T>G (p.Pro1290=)
c.3159T>G (p.Pro1053=)
c.3597+871T>G (n.3597+871T>G)
c.3547+1410T>G (n.3547+1410T>G)
c.3096T>G (p.Pro1032=)
c.3063T>G (p.Pro1021=)
c.3276T>G (p.Pro1092=)
Xg.53234912A>GCA516673586IQSEC2c.3933T>C (p.Pro1311=)
c.1453+871T>C
c.962+871T>C
c.316+1410T>C (n.316+1410T>C)
c.514+1410T>C (n.514+1410T>C)
c.*259T>C (n.*259T>C)
c.3774T>C (p.Pro1258=)
c.3744T>C (p.Pro1248=)
c.3870T>C (p.Pro1290=)
c.3159T>C (p.Pro1053=)
c.3597+871T>C (n.3597+871T>C)
c.3547+1410T>C (n.3547+1410T>C)
c.3096T>C (p.Pro1032=)
c.3063T>C (p.Pro1021=)
c.3276T>C (p.Pro1092=)
 gnomAD v4
Xg.53234912A>TCA516673585IQSEC2c.3933T>A (p.Pro1311=)
c.1453+871T>A
c.962+871T>A
c.316+1410T>A (n.316+1410T>A)
c.514+1410T>A (n.514+1410T>A)
c.*259T>A (n.*259T>A)
c.3774T>A (p.Pro1258=)
c.3744T>A (p.Pro1248=)
c.3870T>A (p.Pro1290=)
c.3159T>A (p.Pro1053=)
c.3597+871T>A (n.3597+871T>A)
c.3547+1410T>A (n.3547+1410T>A)
c.3096T>A (p.Pro1032=)
c.3063T>A (p.Pro1021=)
c.3276T>A (p.Pro1092=)
Xg.53234913G>ACA413140950IQSEC2c.3932C>T (p.Pro1311Leu)
c.1453+870C>T
c.962+870C>T
c.316+1409C>T (n.316+1409C>T)
c.514+1409C>T (n.514+1409C>T)
c.*258C>T (n.*258C>T)
c.3773C>T (p.Pro1258Leu)
c.3743C>T (p.Pro1248Leu)
c.3869C>T (p.Pro1290Leu)
c.3158C>T (p.Pro1053Leu)
c.3597+870C>T (n.3597+870C>T)
c.3547+1409C>T (n.3547+1409C>T)
c.3095C>T (p.Pro1032Leu)
c.3062C>T (p.Pro1021Leu)
c.3275C>T (p.Pro1092Leu)
Xg.53234913G>CCA413140951IQSEC2c.3932C>G (p.Pro1311Arg)
c.1453+870C>G
c.962+870C>G
c.316+1409C>G (n.316+1409C>G)
c.514+1409C>G (n.514+1409C>G)
c.*258C>G (n.*258C>G)
c.3773C>G (p.Pro1258Arg)
c.3743C>G (p.Pro1248Arg)
c.3869C>G (p.Pro1290Arg)
c.3158C>G (p.Pro1053Arg)
c.3597+870C>G (n.3597+870C>G)
c.3547+1409C>G (n.3547+1409C>G)
c.3095C>G (p.Pro1032Arg)
c.3062C>G (p.Pro1021Arg)
c.3275C>G (p.Pro1092Arg)
Xg.53234913G>TCA413140952IQSEC2c.3932C>A (p.Pro1311His)
c.1453+870C>A
c.962+870C>A
c.316+1409C>A (n.316+1409C>A)
c.514+1409C>A (n.514+1409C>A)
c.*258C>A (n.*258C>A)
c.3773C>A (p.Pro1258His)
c.3743C>A (p.Pro1248His)
c.3869C>A (p.Pro1290His)
c.3158C>A (p.Pro1053His)
c.3597+870C>A (n.3597+870C>A)
c.3547+1409C>A (n.3547+1409C>A)
c.3095C>A (p.Pro1032His)
c.3062C>A (p.Pro1021His)
c.3275C>A (p.Pro1092His)
 gnomAD v4
Xg.53234914G>ACA413140953IQSEC2c.3931C>T (p.Pro1311Ser)
c.1453+869C>T
c.962+869C>T
c.316+1408C>T (n.316+1408C>T)
c.514+1408C>T (n.514+1408C>T)
c.*257C>T (n.*257C>T)
c.3772C>T (p.Pro1258Ser)
c.3742C>T (p.Pro1248Ser)
c.3868C>T (p.Pro1290Ser)
c.3157C>T (p.Pro1053Ser)
c.3597+869C>T (n.3597+869C>T)
c.3547+1408C>T (n.3547+1408C>T)
c.3094C>T (p.Pro1032Ser)
c.3061C>T (p.Pro1021Ser)
c.3274C>T (p.Pro1092Ser)
Xg.53234914G>CCA413140955IQSEC2c.3931C>G (p.Pro1311Ala)
c.1453+869C>G
c.962+869C>G
c.316+1408C>G (n.316+1408C>G)
c.514+1408C>G (n.514+1408C>G)
c.*257C>G (n.*257C>G)
c.3772C>G (p.Pro1258Ala)
c.3742C>G (p.Pro1248Ala)
c.3868C>G (p.Pro1290Ala)
c.3157C>G (p.Pro1053Ala)
c.3597+869C>G (n.3597+869C>G)
c.3547+1408C>G (n.3547+1408C>G)
c.3094C>G (p.Pro1032Ala)
c.3061C>G (p.Pro1021Ala)
c.3274C>G (p.Pro1092Ala)
Xg.53234914G>TCA413140956IQSEC2c.3931C>A (p.Pro1311Thr)
c.1453+869C>A
c.962+869C>A
c.316+1408C>A (n.316+1408C>A)
c.514+1408C>A (n.514+1408C>A)
c.*257C>A (n.*257C>A)
c.3772C>A (p.Pro1258Thr)
c.3742C>A (p.Pro1248Thr)
c.3868C>A (p.Pro1290Thr)
c.3157C>A (p.Pro1053Thr)
c.3597+869C>A (n.3597+869C>A)
c.3547+1408C>A (n.3547+1408C>A)
c.3094C>A (p.Pro1032Thr)
c.3061C>A (p.Pro1021Thr)
c.3274C>A (p.Pro1092Thr)
Xg.53234915C>ACA516673590IQSEC2c.3930G>T (p.Leu1310=)
c.1453+868G>T
c.962+868G>T
c.316+1407G>T (n.316+1407G>T)
c.514+1407G>T (n.514+1407G>T)
c.*256G>T (n.*256G>T)
c.3771G>T (p.Leu1257=)
c.3741G>T (p.Leu1247=)
c.3867G>T (p.Leu1289=)
c.3156G>T (p.Leu1052=)
c.3597+868G>T (n.3597+868G>T)
c.3547+1407G>T (n.3547+1407G>T)
c.3093G>T (p.Leu1031=)
c.3060G>T (p.Leu1020=)
c.3273G>T (p.Leu1091=)
Xg.53234915C=CA2429770636IQSEC2c.3930G= (p.Leu1310=)
c.1453+868G=
c.962+868G=
c.316+1407G= (n.316+1407G=)
c.514+1407G= (n.514+1407G=)
c.*256G= (n.*256G=)
c.3771G= (p.Leu1257=)
c.3741G= (p.Leu1247=)
c.3867G= (p.Leu1289=)
c.3156G= (p.Leu1052=)
c.3597+868G= (n.3597+868G=)
c.3547+1407G= (n.3547+1407G=)
c.3093G= (p.Leu1031=)
c.3060G= (p.Leu1020=)
c.3273G= (p.Leu1091=)
Xg.53234915C>GCA516673591IQSEC2c.3930G>C (p.Leu1310=)
c.1453+868G>C
c.962+868G>C
c.316+1407G>C (n.316+1407G>C)
c.514+1407G>C (n.514+1407G>C)
c.*256G>C (n.*256G>C)
c.3771G>C (p.Leu1257=)
c.3741G>C (p.Leu1247=)
c.3867G>C (p.Leu1289=)
c.3156G>C (p.Leu1052=)
c.3597+868G>C (n.3597+868G>C)
c.3547+1407G>C (n.3547+1407G>C)
c.3093G>C (p.Leu1031=)
c.3060G>C (p.Leu1020=)
c.3273G>C (p.Leu1091=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234915C>TCA516673593IQSEC2c.3930G>A (p.Leu1310=)
c.1453+868G>A
c.962+868G>A
c.316+1407G>A (n.316+1407G>A)
c.514+1407G>A (n.514+1407G>A)
c.*256G>A (n.*256G>A)
c.3771G>A (p.Leu1257=)
c.3741G>A (p.Leu1247=)
c.3867G>A (p.Leu1289=)
c.3156G>A (p.Leu1052=)
c.3597+868G>A (n.3597+868G>A)
c.3547+1407G>A (n.3547+1407G>A)
c.3093G>A (p.Leu1031=)
c.3060G>A (p.Leu1020=)
c.3273G>A (p.Leu1091=)
Xg.53234916A>CCA413140958IQSEC2c.3929T>G (p.Leu1310Arg)
c.1453+867T>G
c.962+867T>G
c.316+1406T>G (n.316+1406T>G)
c.514+1406T>G (n.514+1406T>G)
c.*255T>G (n.*255T>G)
c.3770T>G (p.Leu1257Arg)
c.3740T>G (p.Leu1247Arg)
c.3866T>G (p.Leu1289Arg)
c.3155T>G (p.Leu1052Arg)
c.3597+867T>G (n.3597+867T>G)
c.3547+1406T>G (n.3547+1406T>G)
c.3092T>G (p.Leu1031Arg)
c.3059T>G (p.Leu1020Arg)
c.3272T>G (p.Leu1091Arg)
Xg.53234916A>GCA413140962IQSEC2c.3929T>C (p.Leu1310Pro)
c.1453+867T>C
c.962+867T>C
c.316+1406T>C (n.316+1406T>C)
c.514+1406T>C (n.514+1406T>C)
c.*255T>C (n.*255T>C)
c.3770T>C (p.Leu1257Pro)
c.3740T>C (p.Leu1247Pro)
c.3866T>C (p.Leu1289Pro)
c.3155T>C (p.Leu1052Pro)
c.3597+867T>C (n.3597+867T>C)
c.3547+1406T>C (n.3547+1406T>C)
c.3092T>C (p.Leu1031Pro)
c.3059T>C (p.Leu1020Pro)
c.3272T>C (p.Leu1091Pro)
Xg.53234916A>TCA413140964IQSEC2c.3929T>A (p.Leu1310Gln)
c.1453+867T>A
c.962+867T>A
c.316+1406T>A (n.316+1406T>A)
c.514+1406T>A (n.514+1406T>A)
c.*255T>A (n.*255T>A)
c.3770T>A (p.Leu1257Gln)
c.3740T>A (p.Leu1247Gln)
c.3866T>A (p.Leu1289Gln)
c.3155T>A (p.Leu1052Gln)
c.3597+867T>A (n.3597+867T>A)
c.3547+1406T>A (n.3547+1406T>A)
c.3092T>A (p.Leu1031Gln)
c.3059T>A (p.Leu1020Gln)
c.3272T>A (p.Leu1091Gln)
Xg.53234917G>ACA516673595IQSEC2c.3928C>T (p.Leu1310=)
c.1453+866C>T
c.962+866C>T
c.316+1405C>T (n.316+1405C>T)
c.514+1405C>T (n.514+1405C>T)
c.*254C>T (n.*254C>T)
c.3769C>T (p.Leu1257=)
c.3739C>T (p.Leu1247=)
c.3865C>T (p.Leu1289=)
c.3154C>T (p.Leu1052=)
c.3597+866C>T (n.3597+866C>T)
c.3547+1405C>T (n.3547+1405C>T)
c.3091C>T (p.Leu1031=)
c.3058C>T (p.Leu1020=)
c.3271C>T (p.Leu1091=)
 ClinVar dbSNP
Xg.53234917G>CCA413140966IQSEC2c.3928C>G (p.Leu1310Val)
c.1453+866C>G
c.962+866C>G
c.316+1405C>G (n.316+1405C>G)
c.514+1405C>G (n.514+1405C>G)
c.*254C>G (n.*254C>G)
c.3769C>G (p.Leu1257Val)
c.3739C>G (p.Leu1247Val)
c.3865C>G (p.Leu1289Val)
c.3154C>G (p.Leu1052Val)
c.3597+866C>G (n.3597+866C>G)
c.3547+1405C>G (n.3547+1405C>G)
c.3091C>G (p.Leu1031Val)
c.3058C>G (p.Leu1020Val)
c.3271C>G (p.Leu1091Val)
Xg.53234917G=CA2429770637IQSEC2c.3928C= (p.Leu1310=)
c.1453+866C=
c.962+866C=
c.316+1405C= (n.316+1405C=)
c.514+1405C= (n.514+1405C=)
c.*254C= (n.*254C=)
c.3769C= (p.Leu1257=)
c.3739C= (p.Leu1247=)
c.3865C= (p.Leu1289=)
c.3154C= (p.Leu1052=)
c.3597+866C= (n.3597+866C=)
c.3547+1405C= (n.3547+1405C=)
c.3091C= (p.Leu1031=)
c.3058C= (p.Leu1020=)
c.3271C= (p.Leu1091=)
Xg.53234917G>TCA413140968IQSEC2c.3928C>A (p.Leu1310Met)
c.1453+866C>A
c.962+866C>A
c.316+1405C>A (n.316+1405C>A)
c.514+1405C>A (n.514+1405C>A)
c.*254C>A (n.*254C>A)
c.3769C>A (p.Leu1257Met)
c.3739C>A (p.Leu1247Met)
c.3865C>A (p.Leu1289Met)
c.3154C>A (p.Leu1052Met)
c.3597+866C>A (n.3597+866C>A)
c.3547+1405C>A (n.3547+1405C>A)
c.3091C>A (p.Leu1031Met)
c.3058C>A (p.Leu1020Met)
c.3271C>A (p.Leu1091Met)
 gnomAD v4
Xg.53234918C>ACA516673599IQSEC2c.3927G>T (p.Val1309=)
c.1453+865G>T
c.962+865G>T
c.316+1404G>T (n.316+1404G>T)
c.514+1404G>T (n.514+1404G>T)
c.*253G>T (n.*253G>T)
c.3768G>T (p.Val1256=)
c.3738G>T (p.Val1246=)
c.3864G>T (p.Val1288=)
c.3153G>T (p.Val1051=)
c.3597+865G>T (n.3597+865G>T)
c.3547+1404G>T (n.3547+1404G>T)
c.3090G>T (p.Val1030=)
c.3057G>T (p.Val1019=)
c.3270G>T (p.Val1090=)
Xg.53234918C>GCA516673600IQSEC2c.3927G>C (p.Val1309=)
c.1453+865G>C
c.962+865G>C
c.316+1404G>C (n.316+1404G>C)
c.514+1404G>C (n.514+1404G>C)
c.*253G>C (n.*253G>C)
c.3768G>C (p.Val1256=)
c.3738G>C (p.Val1246=)
c.3864G>C (p.Val1288=)
c.3153G>C (p.Val1051=)
c.3597+865G>C (n.3597+865G>C)
c.3547+1404G>C (n.3547+1404G>C)
c.3090G>C (p.Val1030=)
c.3057G>C (p.Val1019=)
c.3270G>C (p.Val1090=)
Xg.53234918C>TCA516673601IQSEC2c.3927G>A (p.Val1309=)
c.1453+865G>A
c.962+865G>A
c.316+1404G>A (n.316+1404G>A)
c.514+1404G>A (n.514+1404G>A)
c.*253G>A (n.*253G>A)
c.3768G>A (p.Val1256=)
c.3738G>A (p.Val1246=)
c.3864G>A (p.Val1288=)
c.3153G>A (p.Val1051=)
c.3597+865G>A (n.3597+865G>A)
c.3547+1404G>A (n.3547+1404G>A)
c.3090G>A (p.Val1030=)
c.3057G>A (p.Val1019=)
c.3270G>A (p.Val1090=)
Xg.53234919A>CCA413140973IQSEC2c.3926T>G (p.Val1309Gly)
c.1453+864T>G
c.962+864T>G
c.316+1403T>G (n.316+1403T>G)
c.514+1403T>G (n.514+1403T>G)
c.*252T>G (n.*252T>G)
c.3767T>G (p.Val1256Gly)
c.3737T>G (p.Val1246Gly)
c.3863T>G (p.Val1288Gly)
c.3152T>G (p.Val1051Gly)
c.3597+864T>G (n.3597+864T>G)
c.3547+1403T>G (n.3547+1403T>G)
c.3089T>G (p.Val1030Gly)
c.3056T>G (p.Val1019Gly)
c.3269T>G (p.Val1090Gly)
Xg.53234919A>GCA413140971IQSEC2c.3926T>C (p.Val1309Ala)
c.1453+864T>C
c.962+864T>C
c.316+1403T>C (n.316+1403T>C)
c.514+1403T>C (n.514+1403T>C)
c.*252T>C (n.*252T>C)
c.3767T>C (p.Val1256Ala)
c.3737T>C (p.Val1246Ala)
c.3863T>C (p.Val1288Ala)
c.3152T>C (p.Val1051Ala)
c.3597+864T>C (n.3597+864T>C)
c.3547+1403T>C (n.3547+1403T>C)
c.3089T>C (p.Val1030Ala)
c.3056T>C (p.Val1019Ala)
c.3269T>C (p.Val1090Ala)
Xg.53234919A>TCA413140970IQSEC2c.3926T>A (p.Val1309Glu)
c.1453+864T>A
c.962+864T>A
c.316+1403T>A (n.316+1403T>A)
c.514+1403T>A (n.514+1403T>A)
c.*252T>A (n.*252T>A)
c.3767T>A (p.Val1256Glu)
c.3737T>A (p.Val1246Glu)
c.3863T>A (p.Val1288Glu)
c.3152T>A (p.Val1051Glu)
c.3597+864T>A (n.3597+864T>A)
c.3547+1403T>A (n.3547+1403T>A)
c.3089T>A (p.Val1030Glu)
c.3056T>A (p.Val1019Glu)
c.3269T>A (p.Val1090Glu)
 gnomAD v4
Xg.53234920C>ACA413140974IQSEC2c.3925G>T (p.Val1309Leu)
c.1453+863G>T
c.962+863G>T
c.316+1402G>T (n.316+1402G>T)
c.514+1402G>T (n.514+1402G>T)
c.*251G>T (n.*251G>T)
c.3766G>T (p.Val1256Leu)
c.3736G>T (p.Val1246Leu)
c.3862G>T (p.Val1288Leu)
c.3151G>T (p.Val1051Leu)
c.3597+863G>T (n.3597+863G>T)
c.3547+1402G>T (n.3547+1402G>T)
c.3088G>T (p.Val1030Leu)
c.3055G>T (p.Val1019Leu)
c.3268G>T (p.Val1090Leu)
Xg.53234920C=CA2429770638IQSEC2c.3925G= (p.Val1309=)
c.1453+863G=
c.962+863G=
c.316+1402G= (n.316+1402G=)
c.514+1402G= (n.514+1402G=)
c.*251G= (n.*251G=)
c.3766G= (p.Val1256=)
c.3736G= (p.Val1246=)
c.3862G= (p.Val1288=)
c.3151G= (p.Val1051=)
c.3597+863G= (n.3597+863G=)
c.3547+1402G= (n.3547+1402G=)
c.3088G= (p.Val1030=)
c.3055G= (p.Val1019=)
c.3268G= (p.Val1090=)
Xg.53234920C>GCA413140976IQSEC2c.3925G>C (p.Val1309Leu)
c.1453+863G>C
c.962+863G>C
c.316+1402G>C (n.316+1402G>C)
c.514+1402G>C (n.514+1402G>C)
c.*251G>C (n.*251G>C)
c.3766G>C (p.Val1256Leu)
c.3736G>C (p.Val1246Leu)
c.3862G>C (p.Val1288Leu)
c.3151G>C (p.Val1051Leu)
c.3597+863G>C (n.3597+863G>C)
c.3547+1402G>C (n.3547+1402G>C)
c.3088G>C (p.Val1030Leu)
c.3055G>C (p.Val1019Leu)
c.3268G>C (p.Val1090Leu)
Xg.53234920C>TCA413140978IQSEC2c.3925G>A (p.Val1309Met)
c.1453+863G>A
c.962+863G>A
c.316+1402G>A (n.316+1402G>A)
c.514+1402G>A (n.514+1402G>A)
c.*251G>A (n.*251G>A)
c.3766G>A (p.Val1256Met)
c.3736G>A (p.Val1246Met)
c.3862G>A (p.Val1288Met)
c.3151G>A (p.Val1051Met)
c.3597+863G>A (n.3597+863G>A)
c.3547+1402G>A (n.3547+1402G>A)
c.3088G>A (p.Val1030Met)
c.3055G>A (p.Val1019Met)
c.3268G>A (p.Val1090Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234924dupCA2820950188IQSEC2c.3925dup (p.Val1309GlyfsTer4)
c.1453+863dup
c.962+863dup
c.316+1402dup (n.316+1402dup)
c.514+1402dup (n.514+1402dup)
c.*251dup (n.*251dup)
c.3766dup (p.Val1256GlyfsTer4)
c.3736dup (p.Val1246GlyfsTer4)
c.3862dup (p.Val1288GlyfsTer4)
c.3151dup (p.Val1051GlyfsTer4)
c.3597+863dup (n.3597+863dup)
c.3547+1402dup (n.3547+1402dup)
c.3088dup (p.Val1030GlyfsTer4)
c.3055dup (p.Val1019GlyfsTer4)
c.3268dup (p.Val1090GlyfsTer4)
Xg.53234924delCA2693794292IQSEC2c.3925del (p.Val1309CysfsTer?)
c.1453+863del
c.962+863del
c.316+1402del (n.316+1402del)
c.514+1402del (n.514+1402del)
c.*251del (n.*251del)
c.3766del (p.Val1256CysfsTer?)
c.3736del (p.Val1246CysfsTer?)
c.3862del (p.Val1288CysfsTer?)
c.3151del (p.Val1051CysfsTer?)
c.3597+863del (n.3597+863del)
c.3547+1402del (n.3547+1402del)
c.3088del (p.Val1030CysfsTer?)
c.3055del (p.Val1019CysfsTer?)
c.3268del (p.Val1090CysfsTer?)
 gnomAD v4
Xg.53234921C>ACA516673605IQSEC2c.3924G>T (p.Gly1308=)
c.1453+862G>T
c.962+862G>T
c.316+1401G>T (n.316+1401G>T)
c.514+1401G>T (n.514+1401G>T)
c.*250G>T (n.*250G>T)
c.3765G>T (p.Gly1255=)
c.3735G>T (p.Gly1245=)
c.3861G>T (p.Gly1287=)
c.3150G>T (p.Gly1050=)
c.3597+862G>T (n.3597+862G>T)
c.3547+1401G>T (n.3547+1401G>T)
c.3087G>T (p.Gly1029=)
c.3054G>T (p.Gly1018=)
c.3267G>T (p.Gly1089=)
Xg.53234921C>GCA516673607IQSEC2c.3924G>C (p.Gly1308=)
c.1453+862G>C
c.962+862G>C
c.316+1401G>C (n.316+1401G>C)
c.514+1401G>C (n.514+1401G>C)
c.*250G>C (n.*250G>C)
c.3765G>C (p.Gly1255=)
c.3735G>C (p.Gly1245=)
c.3861G>C (p.Gly1287=)
c.3150G>C (p.Gly1050=)
c.3597+862G>C (n.3597+862G>C)
c.3547+1401G>C (n.3547+1401G>C)
c.3087G>C (p.Gly1029=)
c.3054G>C (p.Gly1018=)
c.3267G>C (p.Gly1089=)
Xg.53234921C>TCA516673610IQSEC2c.3924G>A (p.Gly1308=)
c.1453+862G>A
c.962+862G>A
c.316+1401G>A (n.316+1401G>A)
c.514+1401G>A (n.514+1401G>A)
c.*250G>A (n.*250G>A)
c.3765G>A (p.Gly1255=)
c.3735G>A (p.Gly1245=)
c.3861G>A (p.Gly1287=)
c.3150G>A (p.Gly1050=)
c.3597+862G>A (n.3597+862G>A)
c.3547+1401G>A (n.3547+1401G>A)
c.3087G>A (p.Gly1029=)
c.3054G>A (p.Gly1018=)
c.3267G>A (p.Gly1089=)
Xg.53234922C>ACA413140980IQSEC2c.3923G>T (p.Gly1308Val)
c.1453+861G>T
c.962+861G>T
c.316+1400G>T (n.316+1400G>T)
c.514+1400G>T (n.514+1400G>T)
c.*249G>T (n.*249G>T)
c.3764G>T (p.Gly1255Val)
c.3734G>T (p.Gly1245Val)
c.3860G>T (p.Gly1287Val)
c.3149G>T (p.Gly1050Val)
c.3597+861G>T (n.3597+861G>T)
c.3547+1400G>T (n.3547+1400G>T)
c.3086G>T (p.Gly1029Val)
c.3053G>T (p.Gly1018Val)
c.3266G>T (p.Gly1089Val)
Xg.53234922C>GCA413140981IQSEC2c.3923G>C (p.Gly1308Ala)
c.1453+861G>C
c.962+861G>C
c.316+1400G>C (n.316+1400G>C)
c.514+1400G>C (n.514+1400G>C)
c.*249G>C (n.*249G>C)
c.3764G>C (p.Gly1255Ala)
c.3734G>C (p.Gly1245Ala)
c.3860G>C (p.Gly1287Ala)
c.3149G>C (p.Gly1050Ala)
c.3597+861G>C (n.3597+861G>C)
c.3547+1400G>C (n.3547+1400G>C)
c.3086G>C (p.Gly1029Ala)
c.3053G>C (p.Gly1018Ala)
c.3266G>C (p.Gly1089Ala)
Xg.53234922C>TCA413140983IQSEC2c.3923G>A (p.Gly1308Glu)
c.1453+861G>A
c.962+861G>A
c.316+1400G>A (n.316+1400G>A)
c.514+1400G>A (n.514+1400G>A)
c.*249G>A (n.*249G>A)
c.3764G>A (p.Gly1255Glu)
c.3734G>A (p.Gly1245Glu)
c.3860G>A (p.Gly1287Glu)
c.3149G>A (p.Gly1050Glu)
c.3597+861G>A (n.3597+861G>A)
c.3547+1400G>A (n.3547+1400G>A)
c.3086G>A (p.Gly1029Glu)
c.3053G>A (p.Gly1018Glu)
c.3266G>A (p.Gly1089Glu)
Xg.53234923C>ACA413140991IQSEC2c.3922G>T (p.Gly1308Trp)
c.1453+860G>T
c.962+860G>T
c.316+1399G>T (n.316+1399G>T)
c.514+1399G>T (n.514+1399G>T)
c.*248G>T (n.*248G>T)
c.3763G>T (p.Gly1255Trp)
c.3733G>T (p.Gly1245Trp)
c.3859G>T (p.Gly1287Trp)
c.3148G>T (p.Gly1050Trp)
c.3597+860G>T (n.3597+860G>T)
c.3547+1399G>T (n.3547+1399G>T)
c.3085G>T (p.Gly1029Trp)
c.3052G>T (p.Gly1018Trp)
c.3265G>T (p.Gly1089Trp)
Xg.53234923C>GCA413140987IQSEC2c.3922G>C (p.Gly1308Arg)
c.1453+860G>C
c.962+860G>C
c.316+1399G>C (n.316+1399G>C)
c.514+1399G>C (n.514+1399G>C)
c.*248G>C (n.*248G>C)
c.3763G>C (p.Gly1255Arg)
c.3733G>C (p.Gly1245Arg)
c.3859G>C (p.Gly1287Arg)
c.3148G>C (p.Gly1050Arg)
c.3597+860G>C (n.3597+860G>C)
c.3547+1399G>C (n.3547+1399G>C)
c.3085G>C (p.Gly1029Arg)
c.3052G>C (p.Gly1018Arg)
c.3265G>C (p.Gly1089Arg)
Xg.53234923C>TCA413140989IQSEC2c.3922G>A (p.Gly1308Arg)
c.1453+860G>A
c.962+860G>A
c.316+1399G>A (n.316+1399G>A)
c.514+1399G>A (n.514+1399G>A)
c.*248G>A (n.*248G>A)
c.3763G>A (p.Gly1255Arg)
c.3733G>A (p.Gly1245Arg)
c.3859G>A (p.Gly1287Arg)
c.3148G>A (p.Gly1050Arg)
c.3597+860G>A (n.3597+860G>A)
c.3547+1399G>A (n.3547+1399G>A)
c.3085G>A (p.Gly1029Arg)
c.3052G>A (p.Gly1018Arg)
c.3265G>A (p.Gly1089Arg)
Xg.53234924C>ACA516673613IQSEC2c.3921G>T (p.Leu1307=)
c.1453+859G>T
c.962+859G>T
c.316+1398G>T (n.316+1398G>T)
c.514+1398G>T (n.514+1398G>T)
c.*247G>T (n.*247G>T)
c.3762G>T (p.Leu1254=)
c.3732G>T (p.Leu1244=)
c.3858G>T (p.Leu1286=)
c.3147G>T (p.Leu1049=)
c.3597+859G>T (n.3597+859G>T)
c.3547+1398G>T (n.3547+1398G>T)
c.3084G>T (p.Leu1028=)
c.3051G>T (p.Leu1017=)
c.3264G>T (p.Leu1088=)
 gnomAD v4
Xg.53234924C>GCA516673614IQSEC2c.3921G>C (p.Leu1307=)
c.1453+859G>C
c.962+859G>C
c.316+1398G>C (n.316+1398G>C)
c.514+1398G>C (n.514+1398G>C)
c.*247G>C (n.*247G>C)
c.3762G>C (p.Leu1254=)
c.3732G>C (p.Leu1244=)
c.3858G>C (p.Leu1286=)
c.3147G>C (p.Leu1049=)
c.3597+859G>C (n.3597+859G>C)
c.3547+1398G>C (n.3547+1398G>C)
c.3084G>C (p.Leu1028=)
c.3051G>C (p.Leu1017=)
c.3264G>C (p.Leu1088=)
Xg.53234924C>TCA516673615IQSEC2c.3921G>A (p.Leu1307=)
c.1453+859G>A
c.962+859G>A
c.316+1398G>A (n.316+1398G>A)
c.514+1398G>A (n.514+1398G>A)
c.*247G>A (n.*247G>A)
c.3762G>A (p.Leu1254=)
c.3732G>A (p.Leu1244=)
c.3858G>A (p.Leu1286=)
c.3147G>A (p.Leu1049=)
c.3597+859G>A (n.3597+859G>A)
c.3547+1398G>A (n.3547+1398G>A)
c.3084G>A (p.Leu1028=)
c.3051G>A (p.Leu1017=)
c.3264G>A (p.Leu1088=)
Xg.53234925A>CCA413140994IQSEC2c.3920T>G (p.Leu1307Arg)
c.1453+858T>G
c.962+858T>G
c.316+1397T>G (n.316+1397T>G)
c.514+1397T>G (n.514+1397T>G)
c.*246T>G (n.*246T>G)
c.3761T>G (p.Leu1254Arg)
c.3731T>G (p.Leu1244Arg)
c.3857T>G (p.Leu1286Arg)
c.3146T>G (p.Leu1049Arg)
c.3597+858T>G (n.3597+858T>G)
c.3547+1397T>G (n.3547+1397T>G)
c.3083T>G (p.Leu1028Arg)
c.3050T>G (p.Leu1017Arg)
c.3263T>G (p.Leu1088Arg)
Xg.53234925A>GCA413140997IQSEC2c.3920T>C (p.Leu1307Pro)
c.1453+858T>C
c.962+858T>C
c.316+1397T>C (n.316+1397T>C)
c.514+1397T>C (n.514+1397T>C)
c.*246T>C (n.*246T>C)
c.3761T>C (p.Leu1254Pro)
c.3731T>C (p.Leu1244Pro)
c.3857T>C (p.Leu1286Pro)
c.3146T>C (p.Leu1049Pro)
c.3597+858T>C (n.3597+858T>C)
c.3547+1397T>C (n.3547+1397T>C)
c.3083T>C (p.Leu1028Pro)
c.3050T>C (p.Leu1017Pro)
c.3263T>C (p.Leu1088Pro)
Xg.53234925A>TCA413140999IQSEC2c.3920T>A (p.Leu1307Gln)
c.1453+858T>A
c.962+858T>A
c.316+1397T>A (n.316+1397T>A)
c.514+1397T>A (n.514+1397T>A)
c.*246T>A (n.*246T>A)
c.3761T>A (p.Leu1254Gln)
c.3731T>A (p.Leu1244Gln)
c.3857T>A (p.Leu1286Gln)
c.3146T>A (p.Leu1049Gln)
c.3597+858T>A (n.3597+858T>A)
c.3547+1397T>A (n.3547+1397T>A)
c.3083T>A (p.Leu1028Gln)
c.3050T>A (p.Leu1017Gln)
c.3263T>A (p.Leu1088Gln)
Xg.53234926G>ACA516673619IQSEC2c.3919C>T (p.Leu1307=)
c.1453+857C>T
c.962+857C>T
c.316+1396C>T (n.316+1396C>T)
c.514+1396C>T (n.514+1396C>T)
c.*245C>T (n.*245C>T)
c.3760C>T (p.Leu1254=)
c.3730C>T (p.Leu1244=)
c.3856C>T (p.Leu1286=)
c.3145C>T (p.Leu1049=)
c.3597+857C>T (n.3597+857C>T)
c.3547+1396C>T (n.3547+1396C>T)
c.3082C>T (p.Leu1028=)
c.3049C>T (p.Leu1017=)
c.3262C>T (p.Leu1088=)
Xg.53234926G>CCA413141002IQSEC2c.3919C>G (p.Leu1307Val)
c.1453+857C>G
c.962+857C>G
c.316+1396C>G (n.316+1396C>G)
c.514+1396C>G (n.514+1396C>G)
c.*245C>G (n.*245C>G)
c.3760C>G (p.Leu1254Val)
c.3730C>G (p.Leu1244Val)
c.3856C>G (p.Leu1286Val)
c.3145C>G (p.Leu1049Val)
c.3597+857C>G (n.3597+857C>G)
c.3547+1396C>G (n.3547+1396C>G)
c.3082C>G (p.Leu1028Val)
c.3049C>G (p.Leu1017Val)
c.3262C>G (p.Leu1088Val)
Xg.53234926G>TCA413141005IQSEC2c.3919C>A (p.Leu1307Met)
c.1453+857C>A
c.962+857C>A
c.316+1396C>A (n.316+1396C>A)
c.514+1396C>A (n.514+1396C>A)
c.*245C>A (n.*245C>A)
c.3760C>A (p.Leu1254Met)
c.3730C>A (p.Leu1244Met)
c.3856C>A (p.Leu1286Met)
c.3145C>A (p.Leu1049Met)
c.3597+857C>A (n.3597+857C>A)
c.3547+1396C>A (n.3547+1396C>A)
c.3082C>A (p.Leu1028Met)
c.3049C>A (p.Leu1017Met)
c.3262C>A (p.Leu1088Met)
Xg.53234927G>ACA329162109IQSEC2c.3918C>T (p.Gly1306=)
c.1453+856C>T
c.962+856C>T
c.316+1395C>T (n.316+1395C>T)
c.514+1395C>T (n.514+1395C>T)
c.*244C>T (n.*244C>T)
c.3759C>T (p.Gly1253=)
c.3729C>T (p.Gly1243=)
c.3855C>T (p.Gly1285=)
c.3144C>T (p.Gly1048=)
c.3597+856C>T (n.3597+856C>T)
c.3547+1395C>T (n.3547+1395C>T)
c.3081C>T (p.Gly1027=)
c.3048C>T (p.Gly1016=)
c.3261C>T (p.Gly1087=)
 dbSNP
Xg.53234927G>CCA516673620IQSEC2c.3918C>G (p.Gly1306=)
c.1453+856C>G
c.962+856C>G
c.316+1395C>G (n.316+1395C>G)
c.514+1395C>G (n.514+1395C>G)
c.*244C>G (n.*244C>G)
c.3759C>G (p.Gly1253=)
c.3729C>G (p.Gly1243=)
c.3855C>G (p.Gly1285=)
c.3144C>G (p.Gly1048=)
c.3597+856C>G (n.3597+856C>G)
c.3547+1395C>G (n.3547+1395C>G)
c.3081C>G (p.Gly1027=)
c.3048C>G (p.Gly1016=)
c.3261C>G (p.Gly1087=)
Xg.53234927G=CA2429770639IQSEC2c.3918C= (p.Gly1306=)
c.1453+856C=
c.962+856C=
c.316+1395C= (n.316+1395C=)
c.514+1395C= (n.514+1395C=)
c.*244C= (n.*244C=)
c.3759C= (p.Gly1253=)
c.3729C= (p.Gly1243=)
c.3855C= (p.Gly1285=)
c.3144C= (p.Gly1048=)
c.3597+856C= (n.3597+856C=)
c.3547+1395C= (n.3547+1395C=)
c.3081C= (p.Gly1027=)
c.3048C= (p.Gly1016=)
c.3261C= (p.Gly1087=)
Xg.53234927G>TCA516673622IQSEC2c.3918C>A (p.Gly1306=)
c.1453+856C>A
c.962+856C>A
c.316+1395C>A (n.316+1395C>A)
c.514+1395C>A (n.514+1395C>A)
c.*244C>A (n.*244C>A)
c.3759C>A (p.Gly1253=)
c.3729C>A (p.Gly1243=)
c.3855C>A (p.Gly1285=)
c.3144C>A (p.Gly1048=)
c.3597+856C>A (n.3597+856C>A)
c.3547+1395C>A (n.3547+1395C>A)
c.3081C>A (p.Gly1027=)
c.3048C>A (p.Gly1016=)
c.3261C>A (p.Gly1087=)
Xg.53234928C>ACA413141008IQSEC2c.3917G>T (p.Gly1306Val)
c.1453+855G>T
c.962+855G>T
c.316+1394G>T (n.316+1394G>T)
c.514+1394G>T (n.514+1394G>T)
c.*243G>T (n.*243G>T)
c.3758G>T (p.Gly1253Val)
c.3728G>T (p.Gly1243Val)
c.3854G>T (p.Gly1285Val)
c.3143G>T (p.Gly1048Val)
c.3597+855G>T (n.3597+855G>T)
c.3547+1394G>T (n.3547+1394G>T)
c.3080G>T (p.Gly1027Val)
c.3047G>T (p.Gly1016Val)
c.3260G>T (p.Gly1087Val)
 gnomAD v4
Xg.53234928C>GCA413141013IQSEC2c.3917G>C (p.Gly1306Ala)
c.1453+855G>C
c.962+855G>C
c.316+1394G>C (n.316+1394G>C)
c.514+1394G>C (n.514+1394G>C)
c.*243G>C (n.*243G>C)
c.3758G>C (p.Gly1253Ala)
c.3728G>C (p.Gly1243Ala)
c.3854G>C (p.Gly1285Ala)
c.3143G>C (p.Gly1048Ala)
c.3597+855G>C (n.3597+855G>C)
c.3547+1394G>C (n.3547+1394G>C)
c.3080G>C (p.Gly1027Ala)
c.3047G>C (p.Gly1016Ala)
c.3260G>C (p.Gly1087Ala)
Xg.53234928C>TCA413141010IQSEC2c.3917G>A (p.Gly1306Asp)
c.1453+855G>A
c.962+855G>A
c.316+1394G>A (n.316+1394G>A)
c.514+1394G>A (n.514+1394G>A)
c.*243G>A (n.*243G>A)
c.3758G>A (p.Gly1253Asp)
c.3728G>A (p.Gly1243Asp)
c.3854G>A (p.Gly1285Asp)
c.3143G>A (p.Gly1048Asp)
c.3597+855G>A (n.3597+855G>A)
c.3547+1394G>A (n.3547+1394G>A)
c.3080G>A (p.Gly1027Asp)
c.3047G>A (p.Gly1016Asp)
c.3260G>A (p.Gly1087Asp)
Xg.53234929C>ACA413141016IQSEC2c.3916G>T (p.Gly1306Cys)
c.1453+854G>T
c.962+854G>T
c.316+1393G>T (n.316+1393G>T)
c.514+1393G>T (n.514+1393G>T)
c.*242G>T (n.*242G>T)
c.3757G>T (p.Gly1253Cys)
c.3727G>T (p.Gly1243Cys)
c.3853G>T (p.Gly1285Cys)
c.3142G>T (p.Gly1048Cys)
c.3597+854G>T (n.3597+854G>T)
c.3547+1393G>T (n.3547+1393G>T)
c.3079G>T (p.Gly1027Cys)
c.3046G>T (p.Gly1016Cys)
c.3259G>T (p.Gly1087Cys)
Xg.53234929C>GCA413141019IQSEC2c.3916G>C (p.Gly1306Arg)
c.1453+854G>C
c.962+854G>C
c.316+1393G>C (n.316+1393G>C)
c.514+1393G>C (n.514+1393G>C)
c.*242G>C (n.*242G>C)
c.3757G>C (p.Gly1253Arg)
c.3727G>C (p.Gly1243Arg)
c.3853G>C (p.Gly1285Arg)
c.3142G>C (p.Gly1048Arg)
c.3597+854G>C (n.3597+854G>C)
c.3547+1393G>C (n.3547+1393G>C)
c.3079G>C (p.Gly1027Arg)
c.3046G>C (p.Gly1016Arg)
c.3259G>C (p.Gly1087Arg)
Xg.53234929C>TCA413141021IQSEC2c.3916G>A (p.Gly1306Ser)
c.1453+854G>A
c.962+854G>A
c.316+1393G>A (n.316+1393G>A)
c.514+1393G>A (n.514+1393G>A)
c.*242G>A (n.*242G>A)
c.3757G>A (p.Gly1253Ser)
c.3727G>A (p.Gly1243Ser)
c.3853G>A (p.Gly1285Ser)
c.3142G>A (p.Gly1048Ser)
c.3597+854G>A (n.3597+854G>A)
c.3547+1393G>A (n.3547+1393G>A)
c.3079G>A (p.Gly1027Ser)
c.3046G>A (p.Gly1016Ser)
c.3259G>A (p.Gly1087Ser)
Xg.53234930A>CCA516673627IQSEC2c.3915T>G (p.Gly1305=)
c.1453+853T>G
c.962+853T>G
c.316+1392T>G (n.316+1392T>G)
c.514+1392T>G (n.514+1392T>G)
c.*241T>G (n.*241T>G)
c.3756T>G (p.Gly1252=)
c.3726T>G (p.Gly1242=)
c.3852T>G (p.Gly1284=)
c.3141T>G (p.Gly1047=)
c.3597+853T>G (n.3597+853T>G)
c.3547+1392T>G (n.3547+1392T>G)
c.3078T>G (p.Gly1026=)
c.3045T>G (p.Gly1015=)
c.3258T>G (p.Gly1086=)
Xg.53234930A>GCA516673628IQSEC2c.3915T>C (p.Gly1305=)
c.1453+853T>C
c.962+853T>C
c.316+1392T>C (n.316+1392T>C)
c.514+1392T>C (n.514+1392T>C)
c.*241T>C (n.*241T>C)
c.3756T>C (p.Gly1252=)
c.3726T>C (p.Gly1242=)
c.3852T>C (p.Gly1284=)
c.3141T>C (p.Gly1047=)
c.3597+853T>C (n.3597+853T>C)
c.3547+1392T>C (n.3547+1392T>C)
c.3078T>C (p.Gly1026=)
c.3045T>C (p.Gly1015=)
c.3258T>C (p.Gly1086=)
Xg.53234930A>TCA516673629IQSEC2c.3915T>A (p.Gly1305=)
c.1453+853T>A
c.962+853T>A
c.316+1392T>A (n.316+1392T>A)
c.514+1392T>A (n.514+1392T>A)
c.*241T>A (n.*241T>A)
c.3756T>A (p.Gly1252=)
c.3726T>A (p.Gly1242=)
c.3852T>A (p.Gly1284=)
c.3141T>A (p.Gly1047=)
c.3597+853T>A (n.3597+853T>A)
c.3547+1392T>A (n.3547+1392T>A)
c.3078T>A (p.Gly1026=)
c.3045T>A (p.Gly1015=)
c.3258T>A (p.Gly1086=)
Xg.53234931C>ACA413141023IQSEC2c.3914G>T (p.Gly1305Val)
c.1453+852G>T
c.962+852G>T
c.316+1391G>T (n.316+1391G>T)
c.514+1391G>T (n.514+1391G>T)
c.*240G>T (n.*240G>T)
c.3755G>T (p.Gly1252Val)
c.3725G>T (p.Gly1242Val)
c.3851G>T (p.Gly1284Val)
c.3140G>T (p.Gly1047Val)
c.3597+852G>T (n.3597+852G>T)
c.3547+1391G>T (n.3547+1391G>T)
c.3077G>T (p.Gly1026Val)
c.3044G>T (p.Gly1015Val)
c.3257G>T (p.Gly1086Val)
Xg.53234931C>GCA413141025IQSEC2c.3914G>C (p.Gly1305Ala)
c.1453+852G>C
c.962+852G>C
c.316+1391G>C (n.316+1391G>C)
c.514+1391G>C (n.514+1391G>C)
c.*240G>C (n.*240G>C)
c.3755G>C (p.Gly1252Ala)
c.3725G>C (p.Gly1242Ala)
c.3851G>C (p.Gly1284Ala)
c.3140G>C (p.Gly1047Ala)
c.3597+852G>C (n.3597+852G>C)
c.3547+1391G>C (n.3547+1391G>C)
c.3077G>C (p.Gly1026Ala)
c.3044G>C (p.Gly1015Ala)
c.3257G>C (p.Gly1086Ala)
Xg.53234931C>TCA413141027IQSEC2c.3914G>A (p.Gly1305Asp)
c.1453+852G>A
c.962+852G>A
c.316+1391G>A (n.316+1391G>A)
c.514+1391G>A (n.514+1391G>A)
c.*240G>A (n.*240G>A)
c.3755G>A (p.Gly1252Asp)
c.3725G>A (p.Gly1242Asp)
c.3851G>A (p.Gly1284Asp)
c.3140G>A (p.Gly1047Asp)
c.3597+852G>A (n.3597+852G>A)
c.3547+1391G>A (n.3547+1391G>A)
c.3077G>A (p.Gly1026Asp)
c.3044G>A (p.Gly1015Asp)
c.3257G>A (p.Gly1086Asp)
Xg.53234932C>ACA413141030IQSEC2c.3913G>T (p.Gly1305Cys)
c.1453+851G>T
c.962+851G>T
c.316+1390G>T (n.316+1390G>T)
c.514+1390G>T (n.514+1390G>T)
c.*239G>T (n.*239G>T)
c.3754G>T (p.Gly1252Cys)
c.3724G>T (p.Gly1242Cys)
c.3850G>T (p.Gly1284Cys)
c.3139G>T (p.Gly1047Cys)
c.3597+851G>T (n.3597+851G>T)
c.3547+1390G>T (n.3547+1390G>T)
c.3076G>T (p.Gly1026Cys)
c.3043G>T (p.Gly1015Cys)
c.3256G>T (p.Gly1086Cys)
 gnomAD v4
Xg.53234932C>GCA413141031IQSEC2c.3913G>C (p.Gly1305Arg)
c.1453+851G>C
c.962+851G>C
c.316+1390G>C (n.316+1390G>C)
c.514+1390G>C (n.514+1390G>C)
c.*239G>C (n.*239G>C)
c.3754G>C (p.Gly1252Arg)
c.3724G>C (p.Gly1242Arg)
c.3850G>C (p.Gly1284Arg)
c.3139G>C (p.Gly1047Arg)
c.3597+851G>C (n.3597+851G>C)
c.3547+1390G>C (n.3547+1390G>C)
c.3076G>C (p.Gly1026Arg)
c.3043G>C (p.Gly1015Arg)
c.3256G>C (p.Gly1086Arg)
Xg.53234932C>TCA413141033IQSEC2c.3913G>A (p.Gly1305Ser)
c.1453+851G>A
c.962+851G>A
c.316+1390G>A (n.316+1390G>A)
c.514+1390G>A (n.514+1390G>A)
c.*239G>A (n.*239G>A)
c.3754G>A (p.Gly1252Ser)
c.3724G>A (p.Gly1242Ser)
c.3850G>A (p.Gly1284Ser)
c.3139G>A (p.Gly1047Ser)
c.3597+851G>A (n.3597+851G>A)
c.3547+1390G>A (n.3547+1390G>A)
c.3076G>A (p.Gly1026Ser)
c.3043G>A (p.Gly1015Ser)
c.3256G>A (p.Gly1086Ser)
 gnomAD v4
Xg.53234933G>ACA10419775IQSEC2c.3912C>T (p.His1304=)
c.1453+850C>T
c.962+850C>T
c.316+1389C>T (n.316+1389C>T)
c.514+1389C>T (n.514+1389C>T)
c.*238C>T (n.*238C>T)
c.3753C>T (p.His1251=)
c.3723C>T (p.His1241=)
c.3849C>T (p.His1283=)
c.3138C>T (p.His1046=)
c.3597+850C>T (n.3597+850C>T)
c.3547+1389C>T (n.3547+1389C>T)
c.3075C>T (p.His1025=)
c.3042C>T (p.His1014=)
c.3255C>T (p.His1085=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234933G>CCA413141036IQSEC2c.3912C>G (p.His1304Gln)
c.1453+850C>G
c.962+850C>G
c.316+1389C>G (n.316+1389C>G)
c.514+1389C>G (n.514+1389C>G)
c.*238C>G (n.*238C>G)
c.3753C>G (p.His1251Gln)
c.3723C>G (p.His1241Gln)
c.3849C>G (p.His1283Gln)
c.3138C>G (p.His1046Gln)
c.3597+850C>G (n.3597+850C>G)
c.3547+1389C>G (n.3547+1389C>G)
c.3075C>G (p.His1025Gln)
c.3042C>G (p.His1014Gln)
c.3255C>G (p.His1085Gln)
Xg.53234933G=CA2429770640IQSEC2c.3912C= (p.His1304=)
c.1453+850C=
c.962+850C=
c.316+1389C= (n.316+1389C=)
c.514+1389C= (n.514+1389C=)
c.*238C= (n.*238C=)
c.3753C= (p.His1251=)
c.3723C= (p.His1241=)
c.3849C= (p.His1283=)
c.3138C= (p.His1046=)
c.3597+850C= (n.3597+850C=)
c.3547+1389C= (n.3547+1389C=)
c.3075C= (p.His1025=)
c.3042C= (p.His1014=)
c.3255C= (p.His1085=)
Xg.53234933G>TCA413141040IQSEC2c.3912C>A (p.His1304Gln)
c.1453+850C>A
c.962+850C>A
c.316+1389C>A (n.316+1389C>A)
c.514+1389C>A (n.514+1389C>A)
c.*238C>A (n.*238C>A)
c.3753C>A (p.His1251Gln)
c.3723C>A (p.His1241Gln)
c.3849C>A (p.His1283Gln)
c.3138C>A (p.His1046Gln)
c.3597+850C>A (n.3597+850C>A)
c.3547+1389C>A (n.3547+1389C>A)
c.3075C>A (p.His1025Gln)
c.3042C>A (p.His1014Gln)
c.3255C>A (p.His1085Gln)
Xg.53234934T>ACA413141044IQSEC2c.3911A>T (p.His1304Leu)
c.1453+849A>T
c.962+849A>T
c.316+1388A>T (n.316+1388A>T)
c.514+1388A>T (n.514+1388A>T)
c.*237A>T (n.*237A>T)
c.3752A>T (p.His1251Leu)
c.3722A>T (p.His1241Leu)
c.3848A>T (p.His1283Leu)
c.3137A>T (p.His1046Leu)
c.3597+849A>T (n.3597+849A>T)
c.3547+1388A>T (n.3547+1388A>T)
c.3074A>T (p.His1025Leu)
c.3041A>T (p.His1014Leu)
c.3254A>T (p.His1085Leu)
Xg.53234934T>CCA413141046IQSEC2c.3911A>G (p.His1304Arg)
c.1453+849A>G
c.962+849A>G
c.316+1388A>G (n.316+1388A>G)
c.514+1388A>G (n.514+1388A>G)
c.*237A>G (n.*237A>G)
c.3752A>G (p.His1251Arg)
c.3722A>G (p.His1241Arg)
c.3848A>G (p.His1283Arg)
c.3137A>G (p.His1046Arg)
c.3597+849A>G (n.3597+849A>G)
c.3547+1388A>G (n.3547+1388A>G)
c.3074A>G (p.His1025Arg)
c.3041A>G (p.His1014Arg)
c.3254A>G (p.His1085Arg)
Xg.53234934T>GCA413141042IQSEC2c.3911A>C (p.His1304Pro)
c.1453+849A>C
c.962+849A>C
c.316+1388A>C (n.316+1388A>C)
c.514+1388A>C (n.514+1388A>C)
c.*237A>C (n.*237A>C)
c.3752A>C (p.His1251Pro)
c.3722A>C (p.His1241Pro)
c.3848A>C (p.His1283Pro)
c.3137A>C (p.His1046Pro)
c.3597+849A>C (n.3597+849A>C)
c.3547+1388A>C (n.3547+1388A>C)
c.3074A>C (p.His1025Pro)
c.3041A>C (p.His1014Pro)
c.3254A>C (p.His1085Pro)
Xg.53234935G>ACA413141053IQSEC2c.3910C>T (p.His1304Tyr)
c.1453+848C>T
c.962+848C>T
c.316+1387C>T (n.316+1387C>T)
c.514+1387C>T (n.514+1387C>T)
c.*236C>T (n.*236C>T)
c.3751C>T (p.His1251Tyr)
c.3721C>T (p.His1241Tyr)
c.3847C>T (p.His1283Tyr)
c.3136C>T (p.His1046Tyr)
c.3597+848C>T (n.3597+848C>T)
c.3547+1387C>T (n.3547+1387C>T)
c.3073C>T (p.His1025Tyr)
c.3040C>T (p.His1014Tyr)
c.3253C>T (p.His1085Tyr)
Xg.53234935G>CCA413141049IQSEC2c.3910C>G (p.His1304Asp)
c.1453+848C>G
c.962+848C>G
c.316+1387C>G (n.316+1387C>G)
c.514+1387C>G (n.514+1387C>G)
c.*236C>G (n.*236C>G)
c.3751C>G (p.His1251Asp)
c.3721C>G (p.His1241Asp)
c.3847C>G (p.His1283Asp)
c.3136C>G (p.His1046Asp)
c.3597+848C>G (n.3597+848C>G)
c.3547+1387C>G (n.3547+1387C>G)
c.3073C>G (p.His1025Asp)
c.3040C>G (p.His1014Asp)
c.3253C>G (p.His1085Asp)
Xg.53234935G>TCA413141051IQSEC2c.3910C>A (p.His1304Asn)
c.1453+848C>A
c.962+848C>A
c.316+1387C>A (n.316+1387C>A)
c.514+1387C>A (n.514+1387C>A)
c.*236C>A (n.*236C>A)
c.3751C>A (p.His1251Asn)
c.3721C>A (p.His1241Asn)
c.3847C>A (p.His1283Asn)
c.3136C>A (p.His1046Asn)
c.3597+848C>A (n.3597+848C>A)
c.3547+1387C>A (n.3547+1387C>A)
c.3073C>A (p.His1025Asn)
c.3040C>A (p.His1014Asn)
c.3253C>A (p.His1085Asn)
 gnomAD v4
Xg.53234936G>ACA516673630IQSEC2c.3909C>T (p.Ser1303=)
c.1453+847C>T
c.962+847C>T
c.316+1386C>T (n.316+1386C>T)
c.514+1386C>T (n.514+1386C>T)
c.*235C>T (n.*235C>T)
c.3750C>T (p.Ser1250=)
c.3720C>T (p.Ser1240=)
c.3846C>T (p.Ser1282=)
c.3135C>T (p.Ser1045=)
c.3597+847C>T (n.3597+847C>T)
c.3547+1386C>T (n.3547+1386C>T)
c.3072C>T (p.Ser1024=)
c.3039C>T (p.Ser1013=)
c.3252C>T (p.Ser1084=)
Xg.53234936G>CCA413141055IQSEC2c.3909C>G (p.Ser1303Arg)
c.1453+847C>G
c.962+847C>G
c.316+1386C>G (n.316+1386C>G)
c.514+1386C>G (n.514+1386C>G)
c.*235C>G (n.*235C>G)
c.3750C>G (p.Ser1250Arg)
c.3720C>G (p.Ser1240Arg)
c.3846C>G (p.Ser1282Arg)
c.3135C>G (p.Ser1045Arg)
c.3597+847C>G (n.3597+847C>G)
c.3547+1386C>G (n.3547+1386C>G)
c.3072C>G (p.Ser1024Arg)
c.3039C>G (p.Ser1013Arg)
c.3252C>G (p.Ser1084Arg)
Xg.53234936G>TCA413141058IQSEC2c.3909C>A (p.Ser1303Arg)
c.1453+847C>A
c.962+847C>A
c.316+1386C>A (n.316+1386C>A)
c.514+1386C>A (n.514+1386C>A)
c.*235C>A (n.*235C>A)
c.3750C>A (p.Ser1250Arg)
c.3720C>A (p.Ser1240Arg)
c.3846C>A (p.Ser1282Arg)
c.3135C>A (p.Ser1045Arg)
c.3597+847C>A (n.3597+847C>A)
c.3547+1386C>A (n.3547+1386C>A)
c.3072C>A (p.Ser1024Arg)
c.3039C>A (p.Ser1013Arg)
c.3252C>A (p.Ser1084Arg)
 gnomAD v4
Xg.53234937C>ACA413141060IQSEC2c.3908G>T (p.Ser1303Ile)
c.1453+846G>T
c.962+846G>T
c.316+1385G>T (n.316+1385G>T)
c.514+1385G>T (n.514+1385G>T)
c.*234G>T (n.*234G>T)
c.3749G>T (p.Ser1250Ile)
c.3719G>T (p.Ser1240Ile)
c.3845G>T (p.Ser1282Ile)
c.3134G>T (p.Ser1045Ile)
c.3597+846G>T (n.3597+846G>T)
c.3547+1385G>T (n.3547+1385G>T)
c.3071G>T (p.Ser1024Ile)
c.3038G>T (p.Ser1013Ile)
c.3251G>T (p.Ser1084Ile)
Xg.53234937C>GCA413141062IQSEC2c.3908G>C (p.Ser1303Thr)
c.1453+846G>C
c.962+846G>C
c.316+1385G>C (n.316+1385G>C)
c.514+1385G>C (n.514+1385G>C)
c.*234G>C (n.*234G>C)
c.3749G>C (p.Ser1250Thr)
c.3719G>C (p.Ser1240Thr)
c.3845G>C (p.Ser1282Thr)
c.3134G>C (p.Ser1045Thr)
c.3597+846G>C (n.3597+846G>C)
c.3547+1385G>C (n.3547+1385G>C)
c.3071G>C (p.Ser1024Thr)
c.3038G>C (p.Ser1013Thr)
c.3251G>C (p.Ser1084Thr)
Xg.53234937C>TCA413141064IQSEC2c.3908G>A (p.Ser1303Asn)
c.1453+846G>A
c.962+846G>A
c.316+1385G>A (n.316+1385G>A)
c.514+1385G>A (n.514+1385G>A)
c.*234G>A (n.*234G>A)
c.3749G>A (p.Ser1250Asn)
c.3719G>A (p.Ser1240Asn)
c.3845G>A (p.Ser1282Asn)
c.3134G>A (p.Ser1045Asn)
c.3597+846G>A (n.3597+846G>A)
c.3547+1385G>A (n.3547+1385G>A)
c.3071G>A (p.Ser1024Asn)
c.3038G>A (p.Ser1013Asn)
c.3251G>A (p.Ser1084Asn)
Xg.53234938T>ACA413141067IQSEC2c.3907A>T (p.Ser1303Cys)
c.1453+845A>T
c.962+845A>T
c.316+1384A>T (n.316+1384A>T)
c.514+1384A>T (n.514+1384A>T)
c.*233A>T (n.*233A>T)
c.3748A>T (p.Ser1250Cys)
c.3718A>T (p.Ser1240Cys)
c.3844A>T (p.Ser1282Cys)
c.3133A>T (p.Ser1045Cys)
c.3597+845A>T (n.3597+845A>T)
c.3547+1384A>T (n.3547+1384A>T)
c.3070A>T (p.Ser1024Cys)
c.3037A>T (p.Ser1013Cys)
c.3250A>T (p.Ser1084Cys)
Xg.53234938T>CCA413141069IQSEC2c.3907A>G (p.Ser1303Gly)
c.1453+845A>G
c.962+845A>G
c.316+1384A>G (n.316+1384A>G)
c.514+1384A>G (n.514+1384A>G)
c.*233A>G (n.*233A>G)
c.3748A>G (p.Ser1250Gly)
c.3718A>G (p.Ser1240Gly)
c.3844A>G (p.Ser1282Gly)
c.3133A>G (p.Ser1045Gly)
c.3597+845A>G (n.3597+845A>G)
c.3547+1384A>G (n.3547+1384A>G)
c.3070A>G (p.Ser1024Gly)
c.3037A>G (p.Ser1013Gly)
c.3250A>G (p.Ser1084Gly)
Xg.53234938T>GCA413141071IQSEC2c.3907A>C (p.Ser1303Arg)
c.1453+845A>C
c.962+845A>C
c.316+1384A>C (n.316+1384A>C)
c.514+1384A>C (n.514+1384A>C)
c.*233A>C (n.*233A>C)
c.3748A>C (p.Ser1250Arg)
c.3718A>C (p.Ser1240Arg)
c.3844A>C (p.Ser1282Arg)
c.3133A>C (p.Ser1045Arg)
c.3597+845A>C (n.3597+845A>C)
c.3547+1384A>C (n.3547+1384A>C)
c.3070A>C (p.Ser1024Arg)
c.3037A>C (p.Ser1013Arg)
c.3250A>C (p.Ser1084Arg)
Xg.53234939A=CA2429770641IQSEC2c.3906T= (p.His1302=)
c.1453+844T=
c.962+844T=
c.316+1383T= (n.316+1383T=)
c.514+1383T= (n.514+1383T=)
c.*232T= (n.*232T=)
c.3747T= (p.His1249=)
c.3717T= (p.His1239=)
c.3843T= (p.His1281=)
c.3132T= (p.His1044=)
c.3597+844T= (n.3597+844T=)
c.3547+1383T= (n.3547+1383T=)
c.3069T= (p.His1023=)
c.3036T= (p.His1012=)
c.3249T= (p.His1083=)
Xg.53234939A>CCA413141074IQSEC2c.3906T>G (p.His1302Gln)
c.1453+844T>G
c.962+844T>G
c.316+1383T>G (n.316+1383T>G)
c.514+1383T>G (n.514+1383T>G)
c.*232T>G (n.*232T>G)
c.3747T>G (p.His1249Gln)
c.3717T>G (p.His1239Gln)
c.3843T>G (p.His1281Gln)
c.3132T>G (p.His1044Gln)
c.3597+844T>G (n.3597+844T>G)
c.3547+1383T>G (n.3547+1383T>G)
c.3069T>G (p.His1023Gln)
c.3036T>G (p.His1012Gln)
c.3249T>G (p.His1083Gln)
 gnomAD v3 gnomAD v4
Xg.53234939A>GCA10419776IQSEC2c.3906T>C (p.His1302=)
c.1453+844T>C
c.962+844T>C
c.316+1383T>C (n.316+1383T>C)
c.514+1383T>C (n.514+1383T>C)
c.*232T>C (n.*232T>C)
c.3747T>C (p.His1249=)
c.3717T>C (p.His1239=)
c.3843T>C (p.His1281=)
c.3132T>C (p.His1044=)
c.3597+844T>C (n.3597+844T>C)
c.3547+1383T>C (n.3547+1383T>C)
c.3069T>C (p.His1023=)
c.3036T>C (p.His1012=)
c.3249T>C (p.His1083=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53234939A>TCA413141077IQSEC2c.3906T>A (p.His1302Gln)
c.1453+844T>A
c.962+844T>A
c.316+1383T>A (n.316+1383T>A)
c.514+1383T>A (n.514+1383T>A)
c.*232T>A (n.*232T>A)
c.3747T>A (p.His1249Gln)
c.3717T>A (p.His1239Gln)
c.3843T>A (p.His1281Gln)
c.3132T>A (p.His1044Gln)
c.3597+844T>A (n.3597+844T>A)
c.3547+1383T>A (n.3547+1383T>A)
c.3069T>A (p.His1023Gln)
c.3036T>A (p.His1012Gln)
c.3249T>A (p.His1083Gln)
Xg.53234940T>ACA413141083IQSEC2c.3905A>T (p.His1302Leu)
c.1453+843A>T
c.962+843A>T
c.316+1382A>T (n.316+1382A>T)
c.514+1382A>T (n.514+1382A>T)
c.*231A>T (n.*231A>T)
c.3746A>T (p.His1249Leu)
c.3716A>T (p.His1239Leu)
c.3842A>T (p.His1281Leu)
c.3131A>T (p.His1044Leu)
c.3597+843A>T (n.3597+843A>T)
c.3547+1382A>T (n.3547+1382A>T)
c.3068A>T (p.His1023Leu)
c.3035A>T (p.His1012Leu)
c.3248A>T (p.His1083Leu)
Xg.53234940T>CCA413141082IQSEC2c.3905A>G (p.His1302Arg)
c.1453+843A>G
c.962+843A>G
c.316+1382A>G (n.316+1382A>G)
c.514+1382A>G (n.514+1382A>G)
c.*231A>G (n.*231A>G)
c.3746A>G (p.His1249Arg)
c.3716A>G (p.His1239Arg)
c.3842A>G (p.His1281Arg)
c.3131A>G (p.His1044Arg)
c.3597+843A>G (n.3597+843A>G)
c.3547+1382A>G (n.3547+1382A>G)
c.3068A>G (p.His1023Arg)
c.3035A>G (p.His1012Arg)
c.3248A>G (p.His1083Arg)
 gnomAD v4
Xg.53234940T>GCA413141080IQSEC2c.3905A>C (p.His1302Pro)
c.1453+843A>C
c.962+843A>C
c.316+1382A>C (n.316+1382A>C)
c.514+1382A>C (n.514+1382A>C)
c.*231A>C (n.*231A>C)
c.3746A>C (p.His1249Pro)
c.3716A>C (p.His1239Pro)
c.3842A>C (p.His1281Pro)
c.3131A>C (p.His1044Pro)
c.3597+843A>C (n.3597+843A>C)
c.3547+1382A>C (n.3547+1382A>C)
c.3068A>C (p.His1023Pro)
c.3035A>C (p.His1012Pro)
c.3248A>C (p.His1083Pro)
Xg.53234941G>ACA413141086IQSEC2c.3904C>T (p.His1302Tyr)
c.1453+842C>T
c.962+842C>T
c.316+1381C>T (n.316+1381C>T)
c.514+1381C>T (n.514+1381C>T)
c.*230C>T (n.*230C>T)
c.3745C>T (p.His1249Tyr)
c.3715C>T (p.His1239Tyr)
c.3841C>T (p.His1281Tyr)
c.3130C>T (p.His1044Tyr)
c.3597+842C>T (n.3597+842C>T)
c.3547+1381C>T (n.3547+1381C>T)
c.3067C>T (p.His1023Tyr)
c.3034C>T (p.His1012Tyr)
c.3247C>T (p.His1083Tyr)
Xg.53234941G>CCA413141088IQSEC2c.3904C>G (p.His1302Asp)
c.1453+842C>G
c.962+842C>G
c.316+1381C>G (n.316+1381C>G)
c.514+1381C>G (n.514+1381C>G)
c.*230C>G (n.*230C>G)
c.3745C>G (p.His1249Asp)
c.3715C>G (p.His1239Asp)
c.3841C>G (p.His1281Asp)
c.3130C>G (p.His1044Asp)
c.3597+842C>G (n.3597+842C>G)
c.3547+1381C>G (n.3547+1381C>G)
c.3067C>G (p.His1023Asp)
c.3034C>G (p.His1012Asp)
c.3247C>G (p.His1083Asp)
Xg.53234941G>TCA413141090IQSEC2c.3904C>A (p.His1302Asn)
c.1453+842C>A
c.962+842C>A
c.316+1381C>A (n.316+1381C>A)
c.514+1381C>A (n.514+1381C>A)
c.*230C>A (n.*230C>A)
c.3745C>A (p.His1249Asn)
c.3715C>A (p.His1239Asn)
c.3841C>A (p.His1281Asn)
c.3130C>A (p.His1044Asn)
c.3597+842C>A (n.3597+842C>A)
c.3547+1381C>A (n.3547+1381C>A)
c.3067C>A (p.His1023Asn)
c.3034C>A (p.His1012Asn)
c.3247C>A (p.His1083Asn)
Xg.53234942G>ACA516673637IQSEC2c.3903C>T (p.Gly1301=)
c.1453+841C>T
c.962+841C>T
c.316+1380C>T (n.316+1380C>T)
c.514+1380C>T (n.514+1380C>T)
c.*229C>T (n.*229C>T)
c.3744C>T (p.Gly1248=)
c.3714C>T (p.Gly1238=)
c.3840C>T (p.Gly1280=)
c.3129C>T (p.Gly1043=)
c.3597+841C>T (n.3597+841C>T)
c.3547+1380C>T (n.3547+1380C>T)
c.3066C>T (p.Gly1022=)
c.3033C>T (p.Gly1011=)
c.3246C>T (p.Gly1082=)
Xg.53234942G>CCA516673638IQSEC2c.3903C>G (p.Gly1301=)
c.1453+841C>G
c.962+841C>G
c.316+1380C>G (n.316+1380C>G)
c.514+1380C>G (n.514+1380C>G)
c.*229C>G (n.*229C>G)
c.3744C>G (p.Gly1248=)
c.3714C>G (p.Gly1238=)
c.3840C>G (p.Gly1280=)
c.3129C>G (p.Gly1043=)
c.3597+841C>G (n.3597+841C>G)
c.3547+1380C>G (n.3547+1380C>G)
c.3066C>G (p.Gly1022=)
c.3033C>G (p.Gly1011=)
c.3246C>G (p.Gly1082=)
Xg.53234942G>TCA516673639IQSEC2c.3903C>A (p.Gly1301=)
c.1453+841C>A
c.962+841C>A
c.316+1380C>A (n.316+1380C>A)
c.514+1380C>A (n.514+1380C>A)
c.*229C>A (n.*229C>A)
c.3744C>A (p.Gly1248=)
c.3714C>A (p.Gly1238=)
c.3840C>A (p.Gly1280=)
c.3129C>A (p.Gly1043=)
c.3597+841C>A (n.3597+841C>A)
c.3547+1380C>A (n.3547+1380C>A)
c.3066C>A (p.Gly1022=)
c.3033C>A (p.Gly1011=)
c.3246C>A (p.Gly1082=)
 gnomAD v4
Xg.53234943C>ACA413141093IQSEC2c.3902G>T (p.Gly1301Val)
c.1453+840G>T
c.962+840G>T
c.316+1379G>T (n.316+1379G>T)
c.514+1379G>T (n.514+1379G>T)
c.*228G>T (n.*228G>T)
c.3743G>T (p.Gly1248Val)
c.3713G>T (p.Gly1238Val)
c.3839G>T (p.Gly1280Val)
c.3128G>T (p.Gly1043Val)
c.3597+840G>T (n.3597+840G>T)
c.3547+1379G>T (n.3547+1379G>T)
c.3065G>T (p.Gly1022Val)
c.3032G>T (p.Gly1011Val)
c.3245G>T (p.Gly1082Val)
 gnomAD v4
Xg.53234943C=CA2429770642IQSEC2c.3902G= (p.Gly1301=)
c.1453+840G=
c.962+840G=
c.316+1379G= (n.316+1379G=)
c.514+1379G= (n.514+1379G=)
c.*228G= (n.*228G=)
c.3743G= (p.Gly1248=)
c.3713G= (p.Gly1238=)
c.3839G= (p.Gly1280=)
c.3128G= (p.Gly1043=)
c.3597+840G= (n.3597+840G=)
c.3547+1379G= (n.3547+1379G=)
c.3065G= (p.Gly1022=)
c.3032G= (p.Gly1011=)
c.3245G= (p.Gly1082=)
Xg.53234943C>GCA413141094IQSEC2c.3902G>C (p.Gly1301Ala)
c.1453+840G>C
c.962+840G>C
c.316+1379G>C (n.316+1379G>C)
c.514+1379G>C (n.514+1379G>C)
c.*228G>C (n.*228G>C)
c.3743G>C (p.Gly1248Ala)
c.3713G>C (p.Gly1238Ala)
c.3839G>C (p.Gly1280Ala)
c.3128G>C (p.Gly1043Ala)
c.3597+840G>C (n.3597+840G>C)
c.3547+1379G>C (n.3547+1379G>C)
c.3065G>C (p.Gly1022Ala)
c.3032G>C (p.Gly1011Ala)
c.3245G>C (p.Gly1082Ala)
Xg.53234943C>TCA413141097IQSEC2c.3902G>A (p.Gly1301Asp)
c.1453+840G>A
c.962+840G>A
c.316+1379G>A (n.316+1379G>A)
c.514+1379G>A (n.514+1379G>A)
c.*228G>A (n.*228G>A)
c.3743G>A (p.Gly1248Asp)
c.3713G>A (p.Gly1238Asp)
c.3839G>A (p.Gly1280Asp)
c.3128G>A (p.Gly1043Asp)
c.3597+840G>A (n.3597+840G>A)
c.3547+1379G>A (n.3547+1379G>A)
c.3065G>A (p.Gly1022Asp)
c.3032G>A (p.Gly1011Asp)
c.3245G>A (p.Gly1082Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234944C>ACA413141099IQSEC2c.3901G>T (p.Gly1301Cys)
c.1453+839G>T
c.962+839G>T
c.316+1378G>T (n.316+1378G>T)
c.514+1378G>T (n.514+1378G>T)
c.*227G>T (n.*227G>T)
c.3742G>T (p.Gly1248Cys)
c.3712G>T (p.Gly1238Cys)
c.3838G>T (p.Gly1280Cys)
c.3127G>T (p.Gly1043Cys)
c.3597+839G>T (n.3597+839G>T)
c.3547+1378G>T (n.3547+1378G>T)
c.3064G>T (p.Gly1022Cys)
c.3031G>T (p.Gly1011Cys)
c.3244G>T (p.Gly1082Cys)
Xg.53234944C>GCA413141100IQSEC2c.3901G>C (p.Gly1301Arg)
c.1453+839G>C
c.962+839G>C
c.316+1378G>C (n.316+1378G>C)
c.514+1378G>C (n.514+1378G>C)
c.*227G>C (n.*227G>C)
c.3742G>C (p.Gly1248Arg)
c.3712G>C (p.Gly1238Arg)
c.3838G>C (p.Gly1280Arg)
c.3127G>C (p.Gly1043Arg)
c.3597+839G>C (n.3597+839G>C)
c.3547+1378G>C (n.3547+1378G>C)
c.3064G>C (p.Gly1022Arg)
c.3031G>C (p.Gly1011Arg)
c.3244G>C (p.Gly1082Arg)
Xg.53234944C>TCA413141102IQSEC2c.3901G>A (p.Gly1301Ser)
c.1453+839G>A
c.962+839G>A
c.316+1378G>A (n.316+1378G>A)
c.514+1378G>A (n.514+1378G>A)
c.*227G>A (n.*227G>A)
c.3742G>A (p.Gly1248Ser)
c.3712G>A (p.Gly1238Ser)
c.3838G>A (p.Gly1280Ser)
c.3127G>A (p.Gly1043Ser)
c.3597+839G>A (n.3597+839G>A)
c.3547+1378G>A (n.3547+1378G>A)
c.3064G>A (p.Gly1022Ser)
c.3031G>A (p.Gly1011Ser)
c.3244G>A (p.Gly1082Ser)
 gnomAD v4
Xg.53234945A=CA2429770643IQSEC2c.3900T= (p.His1300=)
c.1453+838T=
c.962+838T=
c.316+1377T= (n.316+1377T=)
c.514+1377T= (n.514+1377T=)
c.*226T= (n.*226T=)
c.3741T= (p.His1247=)
c.3711T= (p.His1237=)
c.3837T= (p.His1279=)
c.3126T= (p.His1042=)
c.3597+838T= (n.3597+838T=)
c.3547+1377T= (n.3547+1377T=)
c.3063T= (p.His1021=)
c.3030T= (p.His1010=)
c.3243T= (p.His1081=)
Xg.53234945A>CCA413141105IQSEC2c.3900T>G (p.His1300Gln)
c.1453+838T>G
c.962+838T>G
c.316+1377T>G (n.316+1377T>G)
c.514+1377T>G (n.514+1377T>G)
c.*226T>G (n.*226T>G)
c.3741T>G (p.His1247Gln)
c.3711T>G (p.His1237Gln)
c.3837T>G (p.His1279Gln)
c.3126T>G (p.His1042Gln)
c.3597+838T>G (n.3597+838T>G)
c.3547+1377T>G (n.3547+1377T>G)
c.3063T>G (p.His1021Gln)
c.3030T>G (p.His1010Gln)
c.3243T>G (p.His1081Gln)
Xg.53234945A>GCA516673641IQSEC2c.3900T>C (p.His1300=)
c.1453+838T>C
c.962+838T>C
c.316+1377T>C (n.316+1377T>C)
c.514+1377T>C (n.514+1377T>C)
c.*226T>C (n.*226T>C)
c.3741T>C (p.His1247=)
c.3711T>C (p.His1237=)
c.3837T>C (p.His1279=)
c.3126T>C (p.His1042=)
c.3597+838T>C (n.3597+838T>C)
c.3547+1377T>C (n.3547+1377T>C)
c.3063T>C (p.His1021=)
c.3030T>C (p.His1010=)
c.3243T>C (p.His1081=)
Xg.53234945A>TCA413141106IQSEC2c.3900T>A (p.His1300Gln)
c.1453+838T>A
c.962+838T>A
c.316+1377T>A (n.316+1377T>A)
c.514+1377T>A (n.514+1377T>A)
c.*226T>A (n.*226T>A)
c.3741T>A (p.His1247Gln)
c.3711T>A (p.His1237Gln)
c.3837T>A (p.His1279Gln)
c.3126T>A (p.His1042Gln)
c.3597+838T>A (n.3597+838T>A)
c.3547+1377T>A (n.3547+1377T>A)
c.3063T>A (p.His1021Gln)
c.3030T>A (p.His1010Gln)
c.3243T>A (p.His1081Gln)
Xg.53234946T>ACA413141108IQSEC2c.3899A>T (p.His1300Leu)
c.1453+837A>T
c.962+837A>T
c.316+1376A>T (n.316+1376A>T)
c.514+1376A>T (n.514+1376A>T)
c.*225A>T (n.*225A>T)
c.3740A>T (p.His1247Leu)
c.3710A>T (p.His1237Leu)
c.3836A>T (p.His1279Leu)
c.3125A>T (p.His1042Leu)
c.3597+837A>T (n.3597+837A>T)
c.3547+1376A>T (n.3547+1376A>T)
c.3062A>T (p.His1021Leu)
c.3029A>T (p.His1010Leu)
c.3242A>T (p.His1081Leu)
Xg.53234946T>CCA413141110IQSEC2c.3899A>G (p.His1300Arg)
c.1453+837A>G
c.962+837A>G
c.316+1376A>G (n.316+1376A>G)
c.514+1376A>G (n.514+1376A>G)
c.*225A>G (n.*225A>G)
c.3740A>G (p.His1247Arg)
c.3710A>G (p.His1237Arg)
c.3836A>G (p.His1279Arg)
c.3125A>G (p.His1042Arg)
c.3597+837A>G (n.3597+837A>G)
c.3547+1376A>G (n.3547+1376A>G)
c.3062A>G (p.His1021Arg)
c.3029A>G (p.His1010Arg)
c.3242A>G (p.His1081Arg)
 gnomAD v4
Xg.53234946T>GCA413141112IQSEC2c.3899A>C (p.His1300Pro)
c.1453+837A>C
c.962+837A>C
c.316+1376A>C (n.316+1376A>C)
c.514+1376A>C (n.514+1376A>C)
c.*225A>C (n.*225A>C)
c.3740A>C (p.His1247Pro)
c.3710A>C (p.His1237Pro)
c.3836A>C (p.His1279Pro)
c.3125A>C (p.His1042Pro)
c.3597+837A>C (n.3597+837A>C)
c.3547+1376A>C (n.3547+1376A>C)
c.3062A>C (p.His1021Pro)
c.3029A>C (p.His1010Pro)
c.3242A>C (p.His1081Pro)
Xg.53234948_53234953dupCA641903962IQSEC2c.3894_3899dup (p.His1300_Gly1301insHisHis)
c.1453+832_1453+837dup
c.962+832_962+837dup
c.316+1371_316+1376dup (n.316+1371_316+1376dup)
c.514+1371_514+1376dup (n.514+1371_514+1376dup)
c.*220_*225dup (n.*220_*225dup)
c.3735_3740dup (p.His1247_Gly1248insHisHis)
c.3705_3710dup (p.His1237_Gly1238insHisHis)
c.3831_3836dup (p.His1279_Gly1280insHisHis)
c.3120_3125dup (p.His1042_Gly1043insHisHis)
c.3597+832_3597+837dup (n.3597+832_3597+837dup)
c.3547+1371_3547+1376dup (n.3547+1371_3547+1376dup)
c.3057_3062dup (p.His1021_Gly1022insHisHis)
c.3024_3029dup (p.His1010_Gly1011insHisHis)
c.3237_3242dup (p.His1081_Gly1082insHisHis)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234947G>ACA413141114IQSEC2c.3898C>T (p.His1300Tyr)
c.1453+836C>T
c.962+836C>T
c.316+1375C>T (n.316+1375C>T)
c.514+1375C>T (n.514+1375C>T)
c.*224C>T (n.*224C>T)
c.3739C>T (p.His1247Tyr)
c.3709C>T (p.His1237Tyr)
c.3835C>T (p.His1279Tyr)
c.3124C>T (p.His1042Tyr)
c.3597+836C>T (n.3597+836C>T)
c.3547+1375C>T (n.3547+1375C>T)
c.3061C>T (p.His1021Tyr)
c.3028C>T (p.His1010Tyr)
c.3241C>T (p.His1081Tyr)
 dbSNP
Xg.53234947G>CCA413141117IQSEC2c.3898C>G (p.His1300Asp)
c.1453+836C>G
c.962+836C>G
c.316+1375C>G (n.316+1375C>G)
c.514+1375C>G (n.514+1375C>G)
c.*224C>G (n.*224C>G)
c.3739C>G (p.His1247Asp)
c.3709C>G (p.His1237Asp)
c.3835C>G (p.His1279Asp)
c.3124C>G (p.His1042Asp)
c.3597+836C>G (n.3597+836C>G)
c.3547+1375C>G (n.3547+1375C>G)
c.3061C>G (p.His1021Asp)
c.3028C>G (p.His1010Asp)
c.3241C>G (p.His1081Asp)
Xg.53234947G=CA2429770644IQSEC2c.3898C= (p.His1300=)
c.1453+836C=
c.962+836C=
c.316+1375C= (n.316+1375C=)
c.514+1375C= (n.514+1375C=)
c.*224C= (n.*224C=)
c.3739C= (p.His1247=)
c.3709C= (p.His1237=)
c.3835C= (p.His1279=)
c.3124C= (p.His1042=)
c.3597+836C= (n.3597+836C=)
c.3547+1375C= (n.3547+1375C=)
c.3061C= (p.His1021=)
c.3028C= (p.His1010=)
c.3241C= (p.His1081=)
Xg.53234947G>TCA413141113IQSEC2c.3898C>A (p.His1300Asn)
c.1453+836C>A
c.962+836C>A
c.316+1375C>A (n.316+1375C>A)
c.514+1375C>A (n.514+1375C>A)
c.*224C>A (n.*224C>A)
c.3739C>A (p.His1247Asn)
c.3709C>A (p.His1237Asn)
c.3835C>A (p.His1279Asn)
c.3124C>A (p.His1042Asn)
c.3597+836C>A (n.3597+836C>A)
c.3547+1375C>A (n.3547+1375C>A)
c.3061C>A (p.His1021Asn)
c.3028C>A (p.His1010Asn)
c.3241C>A (p.His1081Asn)
 gnomAD v4
Xg.53234948A=CA2429770646IQSEC2c.3897T= (p.His1299=)
c.1453+835T=
c.962+835T=
c.316+1374T= (n.316+1374T=)
c.514+1374T= (n.514+1374T=)
c.*223T= (n.*223T=)
c.3738T= (p.His1246=)
c.3708T= (p.His1236=)
c.3834T= (p.His1278=)
c.3123T= (p.His1041=)
c.3597+835T= (n.3597+835T=)
c.3547+1374T= (n.3547+1374T=)
c.3060T= (p.His1020=)
c.3027T= (p.His1009=)
c.3240T= (p.His1080=)
Xg.53234948A>CCA413141120IQSEC2c.3897T>G (p.His1299Gln)
c.1453+835T>G
c.962+835T>G
c.316+1374T>G (n.316+1374T>G)
c.514+1374T>G (n.514+1374T>G)
c.*223T>G (n.*223T>G)
c.3738T>G (p.His1246Gln)
c.3708T>G (p.His1236Gln)
c.3834T>G (p.His1278Gln)
c.3123T>G (p.His1041Gln)
c.3597+835T>G (n.3597+835T>G)
c.3547+1374T>G (n.3547+1374T>G)
c.3060T>G (p.His1020Gln)
c.3027T>G (p.His1009Gln)
c.3240T>G (p.His1080Gln)
Xg.53234948A>GCA516673642IQSEC2c.3897T>C (p.His1299=)
c.1453+835T>C
c.962+835T>C
c.316+1374T>C (n.316+1374T>C)
c.514+1374T>C (n.514+1374T>C)
c.*223T>C (n.*223T>C)
c.3738T>C (p.His1246=)
c.3708T>C (p.His1236=)
c.3834T>C (p.His1278=)
c.3123T>C (p.His1041=)
c.3597+835T>C (n.3597+835T>C)
c.3547+1374T>C (n.3547+1374T>C)
c.3060T>C (p.His1020=)
c.3027T>C (p.His1009=)
c.3240T>C (p.His1080=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234948A>TCA413141122IQSEC2c.3897T>A (p.His1299Gln)
c.1453+835T>A
c.962+835T>A
c.316+1374T>A (n.316+1374T>A)
c.514+1374T>A (n.514+1374T>A)
c.*223T>A (n.*223T>A)
c.3738T>A (p.His1246Gln)
c.3708T>A (p.His1236Gln)
c.3834T>A (p.His1278Gln)
c.3123T>A (p.His1041Gln)
c.3597+835T>A (n.3597+835T>A)
c.3547+1374T>A (n.3547+1374T>A)
c.3060T>A (p.His1020Gln)
c.3027T>A (p.His1009Gln)
c.3240T>A (p.His1080Gln)
Xg.53234948_53234957delinsATGGTGGTGGCA2429770645IQSEC2c.3888_3897delinsCCACCACCAT (p.His1296=)
c.1453+826_1453+835delinsCCACCACCAT
c.962+826_962+835delinsCCACCACCAT
c.316+1365_316+1374delinsCCACCACCAT (n.316+1365_316+1374delinsCCACCACCAT)
c.514+1365_514+1374delinsCCACCACCAT (n.514+1365_514+1374delinsCCACCACCAT)
c.*214_*223delinsCCACCACCAT (n.*214_*223delinsCCACCACCAT)
c.3729_3738delinsCCACCACCAT (p.His1243=)
c.3699_3708delinsCCACCACCAT (p.His1233=)
c.3825_3834delinsCCACCACCAT (p.His1275=)
c.3114_3123delinsCCACCACCAT (p.His1038=)
c.3597+826_3597+835delinsCCACCACCAT (n.3597+826_3597+835delinsCCACCACCAT)
c.3547+1365_3547+1374delinsCCACCACCAT (n.3547+1365_3547+1374delinsCCACCACCAT)
c.3051_3060delinsCCACCACCAT (p.His1017=)
c.3018_3027delinsCCACCACCAT (p.His1006=)
c.3231_3240delinsCCACCACCAT (p.His1077=)
Xg.53234949T>ACA413141123IQSEC2c.3896A>T (p.His1299Leu)
c.1453+834A>T
c.962+834A>T
c.316+1373A>T (n.316+1373A>T)
c.514+1373A>T (n.514+1373A>T)
c.*222A>T (n.*222A>T)
c.3737A>T (p.His1246Leu)
c.3707A>T (p.His1236Leu)
c.3833A>T (p.His1278Leu)
c.3122A>T (p.His1041Leu)
c.3597+834A>T (n.3597+834A>T)
c.3547+1373A>T (n.3547+1373A>T)
c.3059A>T (p.His1020Leu)
c.3026A>T (p.His1009Leu)
c.3239A>T (p.His1080Leu)
Xg.53234949T>CCA413141124IQSEC2c.3896A>G (p.His1299Arg)
c.1453+834A>G
c.962+834A>G
c.316+1373A>G (n.316+1373A>G)
c.514+1373A>G (n.514+1373A>G)
c.*222A>G (n.*222A>G)
c.3737A>G (p.His1246Arg)
c.3707A>G (p.His1236Arg)
c.3833A>G (p.His1278Arg)
c.3122A>G (p.His1041Arg)
c.3597+834A>G (n.3597+834A>G)
c.3547+1373A>G (n.3547+1373A>G)
c.3059A>G (p.His1020Arg)
c.3026A>G (p.His1009Arg)
c.3239A>G (p.His1080Arg)
 gnomAD v4
Xg.53234949T>GCA413141126IQSEC2c.3896A>C (p.His1299Pro)
c.1453+834A>C
c.962+834A>C
c.316+1373A>C (n.316+1373A>C)
c.514+1373A>C (n.514+1373A>C)
c.*222A>C (n.*222A>C)
c.3737A>C (p.His1246Pro)
c.3707A>C (p.His1236Pro)
c.3833A>C (p.His1278Pro)
c.3122A>C (p.His1041Pro)
c.3597+834A>C (n.3597+834A>C)
c.3547+1373A>C (n.3547+1373A>C)
c.3059A>C (p.His1020Pro)
c.3026A>C (p.His1009Pro)
c.3239A>C (p.His1080Pro)
Xg.53234969_53234971dupCA10419778IQSEC2c.3894_3896dup (p.His1299_His1300insHis)
c.1453+832_1453+834dup
c.962+832_962+834dup
c.316+1371_316+1373dup (n.316+1371_316+1373dup)
c.514+1371_514+1373dup (n.514+1371_514+1373dup)
c.*220_*222dup (n.*220_*222dup)
c.3735_3737dup (p.His1246_His1247insHis)
c.3705_3707dup (p.His1236_His1237insHis)
c.3831_3833dup (p.His1278_His1279insHis)
c.3120_3122dup (p.His1041_His1042insHis)
c.3597+832_3597+834dup (n.3597+832_3597+834dup)
c.3547+1371_3547+1373dup (n.3547+1371_3547+1373dup)
c.3057_3059dup (p.His1020_His1021insHis)
c.3024_3026dup (p.His1009_His1010insHis)
c.3237_3239dup (p.His1080_His1081insHis)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53234966_53234971dupCA641903963IQSEC2c.3891_3896dup (p.His1299_His1300insHisHis)
c.1453+829_1453+834dup
c.962+829_962+834dup
c.316+1368_316+1373dup (n.316+1368_316+1373dup)
c.514+1368_514+1373dup (n.514+1368_514+1373dup)
c.*217_*222dup (n.*217_*222dup)
c.3732_3737dup (p.His1246_His1247insHisHis)
c.3702_3707dup (p.His1236_His1237insHisHis)
c.3828_3833dup (p.His1278_His1279insHisHis)
c.3117_3122dup (p.His1041_His1042insHisHis)
c.3597+829_3597+834dup (n.3597+829_3597+834dup)
c.3547+1368_3547+1373dup (n.3547+1368_3547+1373dup)
c.3054_3059dup (p.His1020_His1021insHisHis)
c.3021_3026dup (p.His1009_His1010insHisHis)
c.3234_3239dup (p.His1080_His1081insHisHis)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234969_53234971delCA10419777IQSEC2c.3894_3896del (p.His1299del)
c.1453+832_1453+834del
c.962+832_962+834del
c.316+1371_316+1373del (n.316+1371_316+1373del)
c.514+1371_514+1373del (n.514+1371_514+1373del)
c.*220_*222del (n.*220_*222del)
c.3735_3737del (p.His1246del)
c.3705_3707del (p.His1236del)
c.3831_3833del (p.His1278del)
c.3120_3122del (p.His1041del)
c.3597+832_3597+834del (n.3597+832_3597+834del)
c.3547+1371_3547+1373del (n.3547+1371_3547+1373del)
c.3057_3059del (p.His1020del)
c.3024_3026del (p.His1009del)
c.3237_3239del (p.His1080del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53234966_53234971delCA2579614692IQSEC2c.3891_3896del (p.His1298_His1299del)
c.1453+829_1453+834del
c.962+829_962+834del
c.316+1368_316+1373del (n.316+1368_316+1373del)
c.514+1368_514+1373del (n.514+1368_514+1373del)
c.*217_*222del (n.*217_*222del)
c.3732_3737del (p.His1245_His1246del)
c.3702_3707del (p.His1235_His1236del)
c.3828_3833del (p.His1277_His1278del)
c.3117_3122del (p.His1040_His1041del)
c.3597+829_3597+834del (n.3597+829_3597+834del)
c.3547+1368_3547+1373del (n.3547+1368_3547+1373del)
c.3054_3059del (p.His1019_His1020del)
c.3021_3026del (p.His1008_His1009del)
c.3234_3239del (p.His1079_His1080del)
 gnomAD v4
Xg.53234963_53234971delCA16621441IQSEC2c.3888_3896del (p.His1297_His1299del)
c.1453+826_1453+834del
c.962+826_962+834del
c.316+1365_316+1373del (n.316+1365_316+1373del)
c.514+1365_514+1373del (n.514+1365_514+1373del)
c.*214_*222del (n.*214_*222del)
c.3729_3737del (p.His1244_His1246del)
c.3699_3707del (p.His1234_His1236del)
c.3825_3833del (p.His1276_His1278del)
c.3114_3122del (p.His1039_His1041del)
c.3597+826_3597+834del (n.3597+826_3597+834del)
c.3547+1365_3547+1373del (n.3547+1365_3547+1373del)
c.3051_3059del (p.His1018_His1020del)
c.3018_3026del (p.His1007_His1009del)
c.3231_3239del (p.His1078_His1080del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234949_53234950insTGGCA645609628IQSEC2c.3895_3896insCCA (p.His1299delinsProAsn)
c.1453+833_1453+834insCCA
c.962+833_962+834insCCA
c.316+1372_316+1373insCCA (n.316+1372_316+1373insCCA)
c.514+1372_514+1373insCCA (n.514+1372_514+1373insCCA)
c.*221_*222insCCA (n.*221_*222insCCA)
c.3736_3737insCCA (p.His1246delinsProAsn)
c.3706_3707insCCA (p.His1236delinsProAsn)
c.3832_3833insCCA (p.His1278delinsProAsn)
c.3121_3122insCCA (p.His1041delinsProAsn)
c.3597+833_3597+834insCCA (n.3597+833_3597+834insCCA)
c.3547+1372_3547+1373insCCA (n.3547+1372_3547+1373insCCA)
c.3058_3059insCCA (p.His1020delinsProAsn)
c.3025_3026insCCA (p.His1009delinsProAsn)
c.3238_3239insCCA (p.His1080delinsProAsn)
 COSMIC COSMIC
Xg.53234950G>ACA413141130IQSEC2c.3895C>T (p.His1299Tyr)
c.1453+833C>T
c.962+833C>T
c.316+1372C>T (n.316+1372C>T)
c.514+1372C>T (n.514+1372C>T)
c.*221C>T (n.*221C>T)
c.3736C>T (p.His1246Tyr)
c.3706C>T (p.His1236Tyr)
c.3832C>T (p.His1278Tyr)
c.3121C>T (p.His1041Tyr)
c.3597+833C>T (n.3597+833C>T)
c.3547+1372C>T (n.3547+1372C>T)
c.3058C>T (p.His1020Tyr)
c.3025C>T (p.His1009Tyr)
c.3238C>T (p.His1080Tyr)
 gnomAD v4
Xg.53234950G>CCA413141132IQSEC2c.3895C>G (p.His1299Asp)
c.1453+833C>G
c.962+833C>G
c.316+1372C>G (n.316+1372C>G)
c.514+1372C>G (n.514+1372C>G)
c.*221C>G (n.*221C>G)
c.3736C>G (p.His1246Asp)
c.3706C>G (p.His1236Asp)
c.3832C>G (p.His1278Asp)
c.3121C>G (p.His1041Asp)
c.3597+833C>G (n.3597+833C>G)
c.3547+1372C>G (n.3547+1372C>G)
c.3058C>G (p.His1020Asp)
c.3025C>G (p.His1009Asp)
c.3238C>G (p.His1080Asp)
Xg.53234950G>TCA413141135IQSEC2c.3895C>A (p.His1299Asn)
c.1453+833C>A
c.962+833C>A
c.316+1372C>A (n.316+1372C>A)
c.514+1372C>A (n.514+1372C>A)
c.*221C>A (n.*221C>A)
c.3736C>A (p.His1246Asn)
c.3706C>A (p.His1236Asn)
c.3832C>A (p.His1278Asn)
c.3121C>A (p.His1041Asn)
c.3597+833C>A (n.3597+833C>A)
c.3547+1372C>A (n.3547+1372C>A)
c.3058C>A (p.His1020Asn)
c.3025C>A (p.His1009Asn)
c.3238C>A (p.His1080Asn)
Xg.53234951G>ACA208763IQSEC2c.3894C>T (p.His1298=)
c.1453+832C>T
c.962+832C>T
c.316+1371C>T (n.316+1371C>T)
c.514+1371C>T (n.514+1371C>T)
c.*220C>T (n.*220C>T)
c.3735C>T (p.His1245=)
c.3705C>T (p.His1235=)
c.3831C>T (p.His1277=)
c.3120C>T (p.His1040=)
c.3597+832C>T (n.3597+832C>T)
c.3547+1371C>T (n.3547+1371C>T)
c.3057C>T (p.His1019=)
c.3024C>T (p.His1008=)
c.3237C>T (p.His1079=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234951G>CCA413141143IQSEC2c.3894C>G (p.His1298Gln)
c.1453+832C>G
c.962+832C>G
c.316+1371C>G (n.316+1371C>G)
c.514+1371C>G (n.514+1371C>G)
c.*220C>G (n.*220C>G)
c.3735C>G (p.His1245Gln)
c.3705C>G (p.His1235Gln)
c.3831C>G (p.His1277Gln)
c.3120C>G (p.His1040Gln)
c.3597+832C>G (n.3597+832C>G)
c.3547+1371C>G (n.3547+1371C>G)
c.3057C>G (p.His1019Gln)
c.3024C>G (p.His1008Gln)
c.3237C>G (p.His1079Gln)
Xg.53234951G=CA2429770647IQSEC2c.3894C= (p.His1298=)
c.1453+832C=
c.962+832C=
c.316+1371C= (n.316+1371C=)
c.514+1371C= (n.514+1371C=)
c.*220C= (n.*220C=)
c.3735C= (p.His1245=)
c.3705C= (p.His1235=)
c.3831C= (p.His1277=)
c.3120C= (p.His1040=)
c.3597+832C= (n.3597+832C=)
c.3547+1371C= (n.3547+1371C=)
c.3057C= (p.His1019=)
c.3024C= (p.His1008=)
c.3237C= (p.His1079=)
Xg.53234951G>TCA413141145IQSEC2c.3894C>A (p.His1298Gln)
c.1453+832C>A
c.962+832C>A
c.316+1371C>A (n.316+1371C>A)
c.514+1371C>A (n.514+1371C>A)
c.*220C>A (n.*220C>A)
c.3735C>A (p.His1245Gln)
c.3705C>A (p.His1235Gln)
c.3831C>A (p.His1277Gln)
c.3120C>A (p.His1040Gln)
c.3597+832C>A (n.3597+832C>A)
c.3547+1371C>A (n.3547+1371C>A)
c.3057C>A (p.His1019Gln)
c.3024C>A (p.His1008Gln)
c.3237C>A (p.His1079Gln)
Xg.53234952T>ACA413141149IQSEC2c.3893A>T (p.His1298Leu)
c.1453+831A>T
c.962+831A>T
c.316+1370A>T (n.316+1370A>T)
c.514+1370A>T (n.514+1370A>T)
c.*219A>T (n.*219A>T)
c.3734A>T (p.His1245Leu)
c.3704A>T (p.His1235Leu)
c.3830A>T (p.His1277Leu)
c.3119A>T (p.His1040Leu)
c.3597+831A>T (n.3597+831A>T)
c.3547+1370A>T (n.3547+1370A>T)
c.3056A>T (p.His1019Leu)
c.3023A>T (p.His1008Leu)
c.3236A>T (p.His1079Leu)
Xg.53234952T>CCA413141154IQSEC2c.3893A>G (p.His1298Arg)
c.1453+831A>G
c.962+831A>G
c.316+1370A>G (n.316+1370A>G)
c.514+1370A>G (n.514+1370A>G)
c.*219A>G (n.*219A>G)
c.3734A>G (p.His1245Arg)
c.3704A>G (p.His1235Arg)
c.3830A>G (p.His1277Arg)
c.3119A>G (p.His1040Arg)
c.3597+831A>G (n.3597+831A>G)
c.3547+1370A>G (n.3547+1370A>G)
c.3056A>G (p.His1019Arg)
c.3023A>G (p.His1008Arg)
c.3236A>G (p.His1079Arg)
Xg.53234952T>GCA413141152IQSEC2c.3893A>C (p.His1298Pro)
c.1453+831A>C
c.962+831A>C
c.316+1370A>C (n.316+1370A>C)
c.514+1370A>C (n.514+1370A>C)
c.*219A>C (n.*219A>C)
c.3734A>C (p.His1245Pro)
c.3704A>C (p.His1235Pro)
c.3830A>C (p.His1277Pro)
c.3119A>C (p.His1040Pro)
c.3597+831A>C (n.3597+831A>C)
c.3547+1370A>C (n.3547+1370A>C)
c.3056A>C (p.His1019Pro)
c.3023A>C (p.His1008Pro)
c.3236A>C (p.His1079Pro)
Xg.53234953G>ACA413141157IQSEC2c.3892C>T (p.His1298Tyr)
c.1453+830C>T
c.962+830C>T
c.316+1369C>T (n.316+1369C>T)
c.514+1369C>T (n.514+1369C>T)
c.*218C>T (n.*218C>T)
c.3733C>T (p.His1245Tyr)
c.3703C>T (p.His1235Tyr)
c.3829C>T (p.His1277Tyr)
c.3118C>T (p.His1040Tyr)
c.3597+830C>T (n.3597+830C>T)
c.3547+1369C>T (n.3547+1369C>T)
c.3055C>T (p.His1019Tyr)
c.3022C>T (p.His1008Tyr)
c.3235C>T (p.His1079Tyr)
Xg.53234953G>CCA413141160IQSEC2c.3892C>G (p.His1298Asp)
c.1453+830C>G
c.962+830C>G
c.316+1369C>G (n.316+1369C>G)
c.514+1369C>G (n.514+1369C>G)
c.*218C>G (n.*218C>G)
c.3733C>G (p.His1245Asp)
c.3703C>G (p.His1235Asp)
c.3829C>G (p.His1277Asp)
c.3118C>G (p.His1040Asp)
c.3597+830C>G (n.3597+830C>G)
c.3547+1369C>G (n.3547+1369C>G)
c.3055C>G (p.His1019Asp)
c.3022C>G (p.His1008Asp)
c.3235C>G (p.His1079Asp)
Xg.53234953G>TCA413141163IQSEC2c.3892C>A (p.His1298Asn)
c.1453+830C>A
c.962+830C>A
c.316+1369C>A (n.316+1369C>A)
c.514+1369C>A (n.514+1369C>A)
c.*218C>A (n.*218C>A)
c.3733C>A (p.His1245Asn)
c.3703C>A (p.His1235Asn)
c.3829C>A (p.His1277Asn)
c.3118C>A (p.His1040Asn)
c.3597+830C>A (n.3597+830C>A)
c.3547+1369C>A (n.3547+1369C>A)
c.3055C>A (p.His1019Asn)
c.3022C>A (p.His1008Asn)
c.3235C>A (p.His1079Asn)
 gnomAD v4
Xg.53234961_53235025delCA2695234289IQSEC2c.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)
Xg.53234954G>ACA329162133IQSEC2c.3891C>T (p.His1297=)
c.1453+829C>T
c.962+829C>T
c.316+1368C>T (n.316+1368C>T)
c.514+1368C>T (n.514+1368C>T)
c.*217C>T (n.*217C>T)
c.3732C>T (p.His1244=)
c.3702C>T (p.His1234=)
c.3828C>T (p.His1276=)
c.3117C>T (p.His1039=)
c.3597+829C>T (n.3597+829C>T)
c.3547+1368C>T (n.3547+1368C>T)
c.3054C>T (p.His1018=)
c.3021C>T (p.His1007=)
c.3234C>T (p.His1078=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.53234954G>CCA413141166IQSEC2c.3891C>G (p.His1297Gln)
c.1453+829C>G
c.962+829C>G
c.316+1368C>G (n.316+1368C>G)
c.514+1368C>G (n.514+1368C>G)
c.*217C>G (n.*217C>G)
c.3732C>G (p.His1244Gln)
c.3702C>G (p.His1234Gln)
c.3828C>G (p.His1276Gln)
c.3117C>G (p.His1039Gln)
c.3597+829C>G (n.3597+829C>G)
c.3547+1368C>G (n.3547+1368C>G)
c.3054C>G (p.His1018Gln)
c.3021C>G (p.His1007Gln)
c.3234C>G (p.His1078Gln)
Xg.53234954G=CA2429770648IQSEC2c.3891C= (p.His1297=)
c.1453+829C=
c.962+829C=
c.316+1368C= (n.316+1368C=)
c.514+1368C= (n.514+1368C=)
c.*217C= (n.*217C=)
c.3732C= (p.His1244=)
c.3702C= (p.His1234=)
c.3828C= (p.His1276=)
c.3117C= (p.His1039=)
c.3597+829C= (n.3597+829C=)
c.3547+1368C= (n.3547+1368C=)
c.3054C= (p.His1018=)
c.3021C= (p.His1007=)
c.3234C= (p.His1078=)
Xg.53234954G>TCA413141168IQSEC2c.3891C>A (p.His1297Gln)
c.1453+829C>A
c.962+829C>A
c.316+1368C>A (n.316+1368C>A)
c.514+1368C>A (n.514+1368C>A)
c.*217C>A (n.*217C>A)
c.3732C>A (p.His1244Gln)
c.3702C>A (p.His1234Gln)
c.3828C>A (p.His1276Gln)
c.3117C>A (p.His1039Gln)
c.3597+829C>A (n.3597+829C>A)
c.3547+1368C>A (n.3547+1368C>A)
c.3054C>A (p.His1018Gln)
c.3021C>A (p.His1007Gln)
c.3234C>A (p.His1078Gln)
Xg.53234955T>ACA413141171IQSEC2c.3890A>T (p.His1297Leu)
c.1453+828A>T
c.962+828A>T
c.316+1367A>T (n.316+1367A>T)
c.514+1367A>T (n.514+1367A>T)
c.*216A>T (n.*216A>T)
c.3731A>T (p.His1244Leu)
c.3701A>T (p.His1234Leu)
c.3827A>T (p.His1276Leu)
c.3116A>T (p.His1039Leu)
c.3597+828A>T (n.3597+828A>T)
c.3547+1367A>T (n.3547+1367A>T)
c.3053A>T (p.His1018Leu)
c.3020A>T (p.His1007Leu)
c.3233A>T (p.His1078Leu)
Xg.53234955T>CCA413141174IQSEC2c.3890A>G (p.His1297Arg)
c.1453+828A>G
c.962+828A>G
c.316+1367A>G (n.316+1367A>G)
c.514+1367A>G (n.514+1367A>G)
c.*216A>G (n.*216A>G)
c.3731A>G (p.His1244Arg)
c.3701A>G (p.His1234Arg)
c.3827A>G (p.His1276Arg)
c.3116A>G (p.His1039Arg)
c.3597+828A>G (n.3597+828A>G)
c.3547+1367A>G (n.3547+1367A>G)
c.3053A>G (p.His1018Arg)
c.3020A>G (p.His1007Arg)
c.3233A>G (p.His1078Arg)
Xg.53234955T>GCA413141176IQSEC2c.3890A>C (p.His1297Pro)
c.1453+828A>C
c.962+828A>C
c.316+1367A>C (n.316+1367A>C)
c.514+1367A>C (n.514+1367A>C)
c.*216A>C (n.*216A>C)
c.3731A>C (p.His1244Pro)
c.3701A>C (p.His1234Pro)
c.3827A>C (p.His1276Pro)
c.3116A>C (p.His1039Pro)
c.3597+828A>C (n.3597+828A>C)
c.3547+1367A>C (n.3547+1367A>C)
c.3053A>C (p.His1018Pro)
c.3020A>C (p.His1007Pro)
c.3233A>C (p.His1078Pro)
Xg.53234956G>ACA413141178IQSEC2c.3889C>T (p.His1297Tyr)
c.1453+827C>T
c.962+827C>T
c.316+1366C>T (n.316+1366C>T)
c.514+1366C>T (n.514+1366C>T)
c.*215C>T (n.*215C>T)
c.3730C>T (p.His1244Tyr)
c.3700C>T (p.His1234Tyr)
c.3826C>T (p.His1276Tyr)
c.3115C>T (p.His1039Tyr)
c.3597+827C>T (n.3597+827C>T)
c.3547+1366C>T (n.3547+1366C>T)
c.3052C>T (p.His1018Tyr)
c.3019C>T (p.His1007Tyr)
c.3232C>T (p.His1078Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234956G>CCA413141180IQSEC2c.3889C>G (p.His1297Asp)
c.1453+827C>G
c.962+827C>G
c.316+1366C>G (n.316+1366C>G)
c.514+1366C>G (n.514+1366C>G)
c.*215C>G (n.*215C>G)
c.3730C>G (p.His1244Asp)
c.3700C>G (p.His1234Asp)
c.3826C>G (p.His1276Asp)
c.3115C>G (p.His1039Asp)
c.3597+827C>G (n.3597+827C>G)
c.3547+1366C>G (n.3547+1366C>G)
c.3052C>G (p.His1018Asp)
c.3019C>G (p.His1007Asp)
c.3232C>G (p.His1078Asp)
Xg.53234956G=CA2429770649IQSEC2c.3889C= (p.His1297=)
c.1453+827C=
c.962+827C=
c.316+1366C= (n.316+1366C=)
c.514+1366C= (n.514+1366C=)
c.*215C= (n.*215C=)
c.3730C= (p.His1244=)
c.3700C= (p.His1234=)
c.3826C= (p.His1276=)
c.3115C= (p.His1039=)
c.3597+827C= (n.3597+827C=)
c.3547+1366C= (n.3547+1366C=)
c.3052C= (p.His1018=)
c.3019C= (p.His1007=)
c.3232C= (p.His1078=)
Xg.53234956G>TCA413141182IQSEC2c.3889C>A (p.His1297Asn)
c.1453+827C>A
c.962+827C>A
c.316+1366C>A (n.316+1366C>A)
c.514+1366C>A (n.514+1366C>A)
c.*215C>A (n.*215C>A)
c.3730C>A (p.His1244Asn)
c.3700C>A (p.His1234Asn)
c.3826C>A (p.His1276Asn)
c.3115C>A (p.His1039Asn)
c.3597+827C>A (n.3597+827C>A)
c.3547+1366C>A (n.3547+1366C>A)
c.3052C>A (p.His1018Asn)
c.3019C>A (p.His1007Asn)
c.3232C>A (p.His1078Asn)
Xg.53234957G>ACA516673660IQSEC2c.3888C>T (p.His1296=)
c.1453+826C>T
c.962+826C>T
c.316+1365C>T (n.316+1365C>T)
c.514+1365C>T (n.514+1365C>T)
c.*214C>T (n.*214C>T)
c.3729C>T (p.His1243=)
c.3699C>T (p.His1233=)
c.3825C>T (p.His1275=)
c.3114C>T (p.His1038=)
c.3597+826C>T (n.3597+826C>T)
c.3547+1365C>T (n.3547+1365C>T)
c.3051C>T (p.His1017=)
c.3018C>T (p.His1006=)
c.3231C>T (p.His1077=)
 gnomAD v4
Xg.53234957G>CCA413141187IQSEC2c.3888C>G (p.His1296Gln)
c.1453+826C>G
c.962+826C>G
c.316+1365C>G (n.316+1365C>G)
c.514+1365C>G (n.514+1365C>G)
c.*214C>G (n.*214C>G)
c.3729C>G (p.His1243Gln)
c.3699C>G (p.His1233Gln)
c.3825C>G (p.His1275Gln)
c.3114C>G (p.His1038Gln)
c.3597+826C>G (n.3597+826C>G)
c.3547+1365C>G (n.3547+1365C>G)
c.3051C>G (p.His1017Gln)
c.3018C>G (p.His1006Gln)
c.3231C>G (p.His1077Gln)
 dbSNP
Xg.53234957G=CA2429770650IQSEC2c.3888C= (p.His1296=)
c.1453+826C=
c.962+826C=
c.316+1365C= (n.316+1365C=)
c.514+1365C= (n.514+1365C=)
c.*214C= (n.*214C=)
c.3729C= (p.His1243=)
c.3699C= (p.His1233=)
c.3825C= (p.His1275=)
c.3114C= (p.His1038=)
c.3597+826C= (n.3597+826C=)
c.3547+1365C= (n.3547+1365C=)
c.3051C= (p.His1017=)
c.3018C= (p.His1006=)
c.3231C= (p.His1077=)
Xg.53234957G>TCA413141184IQSEC2c.3888C>A (p.His1296Gln)
c.1453+826C>A
c.962+826C>A
c.316+1365C>A (n.316+1365C>A)
c.514+1365C>A (n.514+1365C>A)
c.*214C>A (n.*214C>A)
c.3729C>A (p.His1243Gln)
c.3699C>A (p.His1233Gln)
c.3825C>A (p.His1275Gln)
c.3114C>A (p.His1038Gln)
c.3597+826C>A (n.3597+826C>A)
c.3547+1365C>A (n.3547+1365C>A)
c.3051C>A (p.His1017Gln)
c.3018C>A (p.His1006Gln)
c.3231C>A (p.His1077Gln)
Xg.53234958T>ACA413141191IQSEC2c.3887A>T (p.His1296Leu)
c.1453+825A>T
c.962+825A>T
c.316+1364A>T (n.316+1364A>T)
c.514+1364A>T (n.514+1364A>T)
c.*213A>T (n.*213A>T)
c.3728A>T (p.His1243Leu)
c.3698A>T (p.His1233Leu)
c.3824A>T (p.His1275Leu)
c.3113A>T (p.His1038Leu)
c.3597+825A>T (n.3597+825A>T)
c.3547+1364A>T (n.3547+1364A>T)
c.3050A>T (p.His1017Leu)
c.3017A>T (p.His1006Leu)
c.3230A>T (p.His1077Leu)
Xg.53234958T>CCA413141196IQSEC2c.3887A>G (p.His1296Arg)
c.1453+825A>G
c.962+825A>G
c.316+1364A>G (n.316+1364A>G)
c.514+1364A>G (n.514+1364A>G)
c.*213A>G (n.*213A>G)
c.3728A>G (p.His1243Arg)
c.3698A>G (p.His1233Arg)
c.3824A>G (p.His1275Arg)
c.3113A>G (p.His1038Arg)
c.3597+825A>G (n.3597+825A>G)
c.3547+1364A>G (n.3547+1364A>G)
c.3050A>G (p.His1017Arg)
c.3017A>G (p.His1006Arg)
c.3230A>G (p.His1077Arg)
Xg.53234958T>GCA413141194IQSEC2c.3887A>C (p.His1296Pro)
c.1453+825A>C
c.962+825A>C
c.316+1364A>C (n.316+1364A>C)
c.514+1364A>C (n.514+1364A>C)
c.*213A>C (n.*213A>C)
c.3728A>C (p.His1243Pro)
c.3698A>C (p.His1233Pro)
c.3824A>C (p.His1275Pro)
c.3113A>C (p.His1038Pro)
c.3597+825A>C (n.3597+825A>C)
c.3547+1364A>C (n.3547+1364A>C)
c.3050A>C (p.His1017Pro)
c.3017A>C (p.His1006Pro)
c.3230A>C (p.His1077Pro)
Xg.53234959G>ACA329162152IQSEC2c.3886C>T (p.His1296Tyr)
c.1453+824C>T
c.962+824C>T
c.316+1363C>T (n.316+1363C>T)
c.514+1363C>T (n.514+1363C>T)
c.*212C>T (n.*212C>T)
c.3727C>T (p.His1243Tyr)
c.3697C>T (p.His1233Tyr)
c.3823C>T (p.His1275Tyr)
c.3112C>T (p.His1038Tyr)
c.3597+824C>T (n.3597+824C>T)
c.3547+1363C>T (n.3547+1363C>T)
c.3049C>T (p.His1017Tyr)
c.3016C>T (p.His1006Tyr)
c.3229C>T (p.His1077Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234959G>CCA413141203IQSEC2c.3886C>G (p.His1296Asp)
c.1453+824C>G
c.962+824C>G
c.316+1363C>G (n.316+1363C>G)
c.514+1363C>G (n.514+1363C>G)
c.*212C>G (n.*212C>G)
c.3727C>G (p.His1243Asp)
c.3697C>G (p.His1233Asp)
c.3823C>G (p.His1275Asp)
c.3112C>G (p.His1038Asp)
c.3597+824C>G (n.3597+824C>G)
c.3547+1363C>G (n.3547+1363C>G)
c.3049C>G (p.His1017Asp)
c.3016C>G (p.His1006Asp)
c.3229C>G (p.His1077Asp)
Xg.53234959G=CA2429770651IQSEC2c.3886C= (p.His1296=)
c.1453+824C=
c.962+824C=
c.316+1363C= (n.316+1363C=)
c.514+1363C= (n.514+1363C=)
c.*212C= (n.*212C=)
c.3727C= (p.His1243=)
c.3697C= (p.His1233=)
c.3823C= (p.His1275=)
c.3112C= (p.His1038=)
c.3597+824C= (n.3597+824C=)
c.3547+1363C= (n.3547+1363C=)
c.3049C= (p.His1017=)
c.3016C= (p.His1006=)
c.3229C= (p.His1077=)
Xg.53234959G>TCA413141205IQSEC2c.3886C>A (p.His1296Asn)
c.1453+824C>A
c.962+824C>A
c.316+1363C>A (n.316+1363C>A)
c.514+1363C>A (n.514+1363C>A)
c.*212C>A (n.*212C>A)
c.3727C>A (p.His1243Asn)
c.3697C>A (p.His1233Asn)
c.3823C>A (p.His1275Asn)
c.3112C>A (p.His1038Asn)
c.3597+824C>A (n.3597+824C>A)
c.3547+1363C>A (n.3547+1363C>A)
c.3049C>A (p.His1017Asn)
c.3016C>A (p.His1006Asn)
c.3229C>A (p.His1077Asn)
Xg.53234960G>ACA516673664IQSEC2c.3885C>T (p.His1295=)
c.1453+823C>T
c.962+823C>T
c.316+1362C>T (n.316+1362C>T)
c.514+1362C>T (n.514+1362C>T)
c.*211C>T (n.*211C>T)
c.3726C>T (p.His1242=)
c.3696C>T (p.His1232=)
c.3822C>T (p.His1274=)
c.3111C>T (p.His1037=)
c.3597+823C>T (n.3597+823C>T)
c.3547+1362C>T (n.3547+1362C>T)
c.3048C>T (p.His1016=)
c.3015C>T (p.His1005=)
c.3228C>T (p.His1076=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234960G>CCA413141208IQSEC2c.3885C>G (p.His1295Gln)
c.1453+823C>G
c.962+823C>G
c.316+1362C>G (n.316+1362C>G)
c.514+1362C>G (n.514+1362C>G)
c.*211C>G (n.*211C>G)
c.3726C>G (p.His1242Gln)
c.3696C>G (p.His1232Gln)
c.3822C>G (p.His1274Gln)
c.3111C>G (p.His1037Gln)
c.3597+823C>G (n.3597+823C>G)
c.3547+1362C>G (n.3547+1362C>G)
c.3048C>G (p.His1016Gln)
c.3015C>G (p.His1005Gln)
c.3228C>G (p.His1076Gln)
 dbSNP
Xg.53234960G=CA2429770652IQSEC2c.3885C= (p.His1295=)
c.1453+823C=
c.962+823C=
c.316+1362C= (n.316+1362C=)
c.514+1362C= (n.514+1362C=)
c.*211C= (n.*211C=)
c.3726C= (p.His1242=)
c.3696C= (p.His1232=)
c.3822C= (p.His1274=)
c.3111C= (p.His1037=)
c.3597+823C= (n.3597+823C=)
c.3547+1362C= (n.3547+1362C=)
c.3048C= (p.His1016=)
c.3015C= (p.His1005=)
c.3228C= (p.His1076=)
Xg.53234960G>TCA413141211IQSEC2c.3885C>A (p.His1295Gln)
c.1453+823C>A
c.962+823C>A
c.316+1362C>A (n.316+1362C>A)
c.514+1362C>A (n.514+1362C>A)
c.*211C>A (n.*211C>A)
c.3726C>A (p.His1242Gln)
c.3696C>A (p.His1232Gln)
c.3822C>A (p.His1274Gln)
c.3111C>A (p.His1037Gln)
c.3597+823C>A (n.3597+823C>A)
c.3547+1362C>A (n.3547+1362C>A)
c.3048C>A (p.His1016Gln)
c.3015C>A (p.His1005Gln)
c.3228C>A (p.His1076Gln)
 gnomAD v4
Xg.53234961T>ACA413141214IQSEC2c.3884A>T (p.His1295Leu)
c.1453+822A>T
c.962+822A>T
c.316+1361A>T (n.316+1361A>T)
c.514+1361A>T (n.514+1361A>T)
c.*210A>T (n.*210A>T)
c.3725A>T (p.His1242Leu)
c.3695A>T (p.His1232Leu)
c.3821A>T (p.His1274Leu)
c.3110A>T (p.His1037Leu)
c.3597+822A>T (n.3597+822A>T)
c.3547+1361A>T (n.3547+1361A>T)
c.3047A>T (p.His1016Leu)
c.3014A>T (p.His1005Leu)
c.3227A>T (p.His1076Leu)
Xg.53234961T>CCA413141217IQSEC2c.3884A>G (p.His1295Arg)
c.1453+822A>G
c.962+822A>G
c.316+1361A>G (n.316+1361A>G)
c.514+1361A>G (n.514+1361A>G)
c.*210A>G (n.*210A>G)
c.3725A>G (p.His1242Arg)
c.3695A>G (p.His1232Arg)
c.3821A>G (p.His1274Arg)
c.3110A>G (p.His1037Arg)
c.3597+822A>G (n.3597+822A>G)
c.3547+1361A>G (n.3547+1361A>G)
c.3047A>G (p.His1016Arg)
c.3014A>G (p.His1005Arg)
c.3227A>G (p.His1076Arg)
 gnomAD v4
Xg.53234961T>GCA413141219IQSEC2c.3884A>C (p.His1295Pro)
c.1453+822A>C
c.962+822A>C
c.316+1361A>C (n.316+1361A>C)
c.514+1361A>C (n.514+1361A>C)
c.*210A>C (n.*210A>C)
c.3725A>C (p.His1242Pro)
c.3695A>C (p.His1232Pro)
c.3821A>C (p.His1274Pro)
c.3110A>C (p.His1037Pro)
c.3597+822A>C (n.3597+822A>C)
c.3547+1361A>C (n.3547+1361A>C)
c.3047A>C (p.His1016Pro)
c.3014A>C (p.His1005Pro)
c.3227A>C (p.His1076Pro)
Xg.53234962G>ACA413141222IQSEC2c.3883C>T (p.His1295Tyr)
c.1453+821C>T
c.962+821C>T
c.316+1360C>T (n.316+1360C>T)
c.514+1360C>T (n.514+1360C>T)
c.*209C>T (n.*209C>T)
c.3724C>T (p.His1242Tyr)
c.3694C>T (p.His1232Tyr)
c.3820C>T (p.His1274Tyr)
c.3109C>T (p.His1037Tyr)
c.3597+821C>T (n.3597+821C>T)
c.3547+1360C>T (n.3547+1360C>T)
c.3046C>T (p.His1016Tyr)
c.3013C>T (p.His1005Tyr)
c.3226C>T (p.His1076Tyr)
Xg.53234962G>CCA413141225IQSEC2c.3883C>G (p.His1295Asp)
c.1453+821C>G
c.962+821C>G
c.316+1360C>G (n.316+1360C>G)
c.514+1360C>G (n.514+1360C>G)
c.*209C>G (n.*209C>G)
c.3724C>G (p.His1242Asp)
c.3694C>G (p.His1232Asp)
c.3820C>G (p.His1274Asp)
c.3109C>G (p.His1037Asp)
c.3597+821C>G (n.3597+821C>G)
c.3547+1360C>G (n.3547+1360C>G)
c.3046C>G (p.His1016Asp)
c.3013C>G (p.His1005Asp)
c.3226C>G (p.His1076Asp)
Xg.53234962G>TCA413141228IQSEC2c.3883C>A (p.His1295Asn)
c.1453+821C>A
c.962+821C>A
c.316+1360C>A (n.316+1360C>A)
c.514+1360C>A (n.514+1360C>A)
c.*209C>A (n.*209C>A)
c.3724C>A (p.His1242Asn)
c.3694C>A (p.His1232Asn)
c.3820C>A (p.His1274Asn)
c.3109C>A (p.His1037Asn)
c.3597+821C>A (n.3597+821C>A)
c.3547+1360C>A (n.3547+1360C>A)
c.3046C>A (p.His1016Asn)
c.3013C>A (p.His1005Asn)
c.3226C>A (p.His1076Asn)
Xg.53234963G>ACA516673668IQSEC2c.3882C>T (p.His1294=)
c.1453+820C>T
c.962+820C>T
c.316+1359C>T (n.316+1359C>T)
c.514+1359C>T (n.514+1359C>T)
c.*208C>T (n.*208C>T)
c.3723C>T (p.His1241=)
c.3693C>T (p.His1231=)
c.3819C>T (p.His1273=)
c.3108C>T (p.His1036=)
c.3597+820C>T (n.3597+820C>T)
c.3547+1359C>T (n.3547+1359C>T)
c.3045C>T (p.His1015=)
c.3012C>T (p.His1004=)
c.3225C>T (p.His1075=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234963G>CCA413141231IQSEC2c.3882C>G (p.His1294Gln)
c.1453+820C>G
c.962+820C>G
c.316+1359C>G (n.316+1359C>G)
c.514+1359C>G (n.514+1359C>G)
c.*208C>G (n.*208C>G)
c.3723C>G (p.His1241Gln)
c.3693C>G (p.His1231Gln)
c.3819C>G (p.His1273Gln)
c.3108C>G (p.His1036Gln)
c.3597+820C>G (n.3597+820C>G)
c.3547+1359C>G (n.3547+1359C>G)
c.3045C>G (p.His1015Gln)
c.3012C>G (p.His1004Gln)
c.3225C>G (p.His1075Gln)
Xg.53234963G=CA2429770653IQSEC2c.3882C= (p.His1294=)
c.1453+820C=
c.962+820C=
c.316+1359C= (n.316+1359C=)
c.514+1359C= (n.514+1359C=)
c.*208C= (n.*208C=)
c.3723C= (p.His1241=)
c.3693C= (p.His1231=)
c.3819C= (p.His1273=)
c.3108C= (p.His1036=)
c.3597+820C= (n.3597+820C=)
c.3547+1359C= (n.3547+1359C=)
c.3045C= (p.His1015=)
c.3012C= (p.His1004=)
c.3225C= (p.His1075=)
Xg.53234963G>TCA413141234IQSEC2c.3882C>A (p.His1294Gln)
c.1453+820C>A
c.962+820C>A
c.316+1359C>A (n.316+1359C>A)
c.514+1359C>A (n.514+1359C>A)
c.*208C>A (n.*208C>A)
c.3723C>A (p.His1241Gln)
c.3693C>A (p.His1231Gln)
c.3819C>A (p.His1273Gln)
c.3108C>A (p.His1036Gln)
c.3597+820C>A (n.3597+820C>A)
c.3547+1359C>A (n.3547+1359C>A)
c.3045C>A (p.His1015Gln)
c.3012C>A (p.His1004Gln)
c.3225C>A (p.His1075Gln)
Xg.53234964T>ACA413141236IQSEC2c.3881A>T (p.His1294Leu)
c.1453+819A>T
c.962+819A>T
c.316+1358A>T (n.316+1358A>T)
c.514+1358A>T (n.514+1358A>T)
c.*207A>T (n.*207A>T)
c.3722A>T (p.His1241Leu)
c.3692A>T (p.His1231Leu)
c.3818A>T (p.His1273Leu)
c.3107A>T (p.His1036Leu)
c.3597+819A>T (n.3597+819A>T)
c.3547+1358A>T (n.3547+1358A>T)
c.3044A>T (p.His1015Leu)
c.3011A>T (p.His1004Leu)
c.3224A>T (p.His1075Leu)
Xg.53234964T>CCA413141242IQSEC2c.3881A>G (p.His1294Arg)
c.1453+819A>G
c.962+819A>G
c.316+1358A>G (n.316+1358A>G)
c.514+1358A>G (n.514+1358A>G)
c.*207A>G (n.*207A>G)
c.3722A>G (p.His1241Arg)
c.3692A>G (p.His1231Arg)
c.3818A>G (p.His1273Arg)
c.3107A>G (p.His1036Arg)
c.3597+819A>G (n.3597+819A>G)
c.3547+1358A>G (n.3547+1358A>G)
c.3044A>G (p.His1015Arg)
c.3011A>G (p.His1004Arg)
c.3224A>G (p.His1075Arg)
Xg.53234964T>GCA413141239IQSEC2c.3881A>C (p.His1294Pro)
c.1453+819A>C
c.962+819A>C
c.316+1358A>C (n.316+1358A>C)
c.514+1358A>C (n.514+1358A>C)
c.*207A>C (n.*207A>C)
c.3722A>C (p.His1241Pro)
c.3692A>C (p.His1231Pro)
c.3818A>C (p.His1273Pro)
c.3107A>C (p.His1036Pro)
c.3597+819A>C (n.3597+819A>C)
c.3547+1358A>C (n.3547+1358A>C)
c.3044A>C (p.His1015Pro)
c.3011A>C (p.His1004Pro)
c.3224A>C (p.His1075Pro)
Xg.53234965G>ACA413141245IQSEC2c.3880C>T (p.His1294Tyr)
c.1453+818C>T
c.962+818C>T
c.316+1357C>T (n.316+1357C>T)
c.514+1357C>T (n.514+1357C>T)
c.*206C>T (n.*206C>T)
c.3721C>T (p.His1241Tyr)
c.3691C>T (p.His1231Tyr)
c.3817C>T (p.His1273Tyr)
c.3106C>T (p.His1036Tyr)
c.3597+818C>T (n.3597+818C>T)
c.3547+1357C>T (n.3547+1357C>T)
c.3043C>T (p.His1015Tyr)
c.3010C>T (p.His1004Tyr)
c.3223C>T (p.His1075Tyr)
 ClinVar dbSNP
Xg.53234965G>CCA413141248IQSEC2c.3880C>G (p.His1294Asp)
c.1453+818C>G
c.962+818C>G
c.316+1357C>G (n.316+1357C>G)
c.514+1357C>G (n.514+1357C>G)
c.*206C>G (n.*206C>G)
c.3721C>G (p.His1241Asp)
c.3691C>G (p.His1231Asp)
c.3817C>G (p.His1273Asp)
c.3106C>G (p.His1036Asp)
c.3597+818C>G (n.3597+818C>G)
c.3547+1357C>G (n.3547+1357C>G)
c.3043C>G (p.His1015Asp)
c.3010C>G (p.His1004Asp)
c.3223C>G (p.His1075Asp)
 gnomAD v4
Xg.53234965G>TCA413141249IQSEC2c.3880C>A (p.His1294Asn)
c.1453+818C>A
c.962+818C>A
c.316+1357C>A (n.316+1357C>A)
c.514+1357C>A (n.514+1357C>A)
c.*206C>A (n.*206C>A)
c.3721C>A (p.His1241Asn)
c.3691C>A (p.His1231Asn)
c.3817C>A (p.His1273Asn)
c.3106C>A (p.His1036Asn)
c.3597+818C>A (n.3597+818C>A)
c.3547+1357C>A (n.3547+1357C>A)
c.3043C>A (p.His1015Asn)
c.3010C>A (p.His1004Asn)
c.3223C>A (p.His1075Asn)
Xg.53234966G>ACA516673673IQSEC2c.3879C>T (p.His1293=)
c.1453+817C>T
c.962+817C>T
c.316+1356C>T (n.316+1356C>T)
c.514+1356C>T (n.514+1356C>T)
c.*205C>T (n.*205C>T)
c.3720C>T (p.His1240=)
c.3690C>T (p.His1230=)
c.3816C>T (p.His1272=)
c.3105C>T (p.His1035=)
c.3597+817C>T (n.3597+817C>T)
c.3547+1356C>T (n.3547+1356C>T)
c.3042C>T (p.His1014=)
c.3009C>T (p.His1003=)
c.3222C>T (p.His1074=)
Xg.53234966G>CCA413141252IQSEC2c.3879C>G (p.His1293Gln)
c.1453+817C>G
c.962+817C>G
c.316+1356C>G (n.316+1356C>G)
c.514+1356C>G (n.514+1356C>G)
c.*205C>G (n.*205C>G)
c.3720C>G (p.His1240Gln)
c.3690C>G (p.His1230Gln)
c.3816C>G (p.His1272Gln)
c.3105C>G (p.His1035Gln)
c.3597+817C>G (n.3597+817C>G)
c.3547+1356C>G (n.3547+1356C>G)
c.3042C>G (p.His1014Gln)
c.3009C>G (p.His1003Gln)
c.3222C>G (p.His1074Gln)
Xg.53234966G>TCA413141255IQSEC2c.3879C>A (p.His1293Gln)
c.1453+817C>A
c.962+817C>A
c.316+1356C>A (n.316+1356C>A)
c.514+1356C>A (n.514+1356C>A)
c.*205C>A (n.*205C>A)
c.3720C>A (p.His1240Gln)
c.3690C>A (p.His1230Gln)
c.3816C>A (p.His1272Gln)
c.3105C>A (p.His1035Gln)
c.3597+817C>A (n.3597+817C>A)
c.3547+1356C>A (n.3547+1356C>A)
c.3042C>A (p.His1014Gln)
c.3009C>A (p.His1003Gln)
c.3222C>A (p.His1074Gln)
Xg.53234967T>ACA413141259IQSEC2c.3878A>T (p.His1293Leu)
c.1453+816A>T
c.962+816A>T
c.316+1355A>T (n.316+1355A>T)
c.514+1355A>T (n.514+1355A>T)
c.*204A>T (n.*204A>T)
c.3719A>T (p.His1240Leu)
c.3689A>T (p.His1230Leu)
c.3815A>T (p.His1272Leu)
c.3104A>T (p.His1035Leu)
c.3597+816A>T (n.3597+816A>T)
c.3547+1355A>T (n.3547+1355A>T)
c.3041A>T (p.His1014Leu)
c.3008A>T (p.His1003Leu)
c.3221A>T (p.His1074Leu)
Xg.53234967T>CCA413141261IQSEC2c.3878A>G (p.His1293Arg)
c.1453+816A>G
c.962+816A>G
c.316+1355A>G (n.316+1355A>G)
c.514+1355A>G (n.514+1355A>G)
c.*204A>G (n.*204A>G)
c.3719A>G (p.His1240Arg)
c.3689A>G (p.His1230Arg)
c.3815A>G (p.His1272Arg)
c.3104A>G (p.His1035Arg)
c.3597+816A>G (n.3597+816A>G)
c.3547+1355A>G (n.3547+1355A>G)
c.3041A>G (p.His1014Arg)
c.3008A>G (p.His1003Arg)
c.3221A>G (p.His1074Arg)
Xg.53234967T>GCA413141264IQSEC2c.3878A>C (p.His1293Pro)
c.1453+816A>C
c.962+816A>C
c.316+1355A>C (n.316+1355A>C)
c.514+1355A>C (n.514+1355A>C)
c.*204A>C (n.*204A>C)
c.3719A>C (p.His1240Pro)
c.3689A>C (p.His1230Pro)
c.3815A>C (p.His1272Pro)
c.3104A>C (p.His1035Pro)
c.3597+816A>C (n.3597+816A>C)
c.3547+1355A>C (n.3547+1355A>C)
c.3041A>C (p.His1014Pro)
c.3008A>C (p.His1003Pro)
c.3221A>C (p.His1074Pro)
Xg.53234967T=CA2429770654IQSEC2c.3878A= (p.His1293=)
c.1453+816A=
c.962+816A=
c.316+1355A= (n.316+1355A=)
c.514+1355A= (n.514+1355A=)
c.*204A= (n.*204A=)
c.3719A= (p.His1240=)
c.3689A= (p.His1230=)
c.3815A= (p.His1272=)
c.3104A= (p.His1035=)
c.3597+816A= (n.3597+816A=)
c.3547+1355A= (n.3547+1355A=)
c.3041A= (p.His1014=)
c.3008A= (p.His1003=)
c.3221A= (p.His1074=)
Xg.53234968G>ACA413141268IQSEC2c.3877C>T (p.His1293Tyr)
c.1453+815C>T
c.962+815C>T
c.316+1354C>T (n.316+1354C>T)
c.514+1354C>T (n.514+1354C>T)
c.*203C>T (n.*203C>T)
c.3718C>T (p.His1240Tyr)
c.3688C>T (p.His1230Tyr)
c.3814C>T (p.His1272Tyr)
c.3103C>T (p.His1035Tyr)
c.3597+815C>T (n.3597+815C>T)
c.3547+1354C>T (n.3547+1354C>T)
c.3040C>T (p.His1014Tyr)
c.3007C>T (p.His1003Tyr)
c.3220C>T (p.His1074Tyr)
Xg.53234968G>CCA413141269IQSEC2c.3877C>G (p.His1293Asp)
c.1453+815C>G
c.962+815C>G
c.316+1354C>G (n.316+1354C>G)
c.514+1354C>G (n.514+1354C>G)
c.*203C>G (n.*203C>G)
c.3718C>G (p.His1240Asp)
c.3688C>G (p.His1230Asp)
c.3814C>G (p.His1272Asp)
c.3103C>G (p.His1035Asp)
c.3597+815C>G (n.3597+815C>G)
c.3547+1354C>G (n.3547+1354C>G)
c.3040C>G (p.His1014Asp)
c.3007C>G (p.His1003Asp)
c.3220C>G (p.His1074Asp)
Xg.53234968G>TCA413141272IQSEC2c.3877C>A (p.His1293Asn)
c.1453+815C>A
c.962+815C>A
c.316+1354C>A (n.316+1354C>A)
c.514+1354C>A (n.514+1354C>A)
c.*203C>A (n.*203C>A)
c.3718C>A (p.His1240Asn)
c.3688C>A (p.His1230Asn)
c.3814C>A (p.His1272Asn)
c.3103C>A (p.His1035Asn)
c.3597+815C>A (n.3597+815C>A)
c.3547+1354C>A (n.3547+1354C>A)
c.3040C>A (p.His1014Asn)
c.3007C>A (p.His1003Asn)
c.3220C>A (p.His1074Asn)
Xg.53234969dupCA915951123IQSEC2c.3877dup (p.His1293ProfsTer11)
c.1453+815dup
c.962+815dup
c.316+1354dup (n.316+1354dup)
c.514+1354dup (n.514+1354dup)
c.*203dup (n.*203dup)
c.3718dup (p.His1240ProfsTer11)
c.3688dup (p.His1230ProfsTer11)
c.3814dup (p.His1272ProfsTer11)
c.3103dup (p.His1035ProfsTer11)
c.3597+815dup (n.3597+815dup)
c.3547+1354dup (n.3547+1354dup)
c.3040dup (p.His1014ProfsTer11)
c.3007dup (p.His1003ProfsTer11)
c.3220dup (p.His1074ProfsTer11)
 ClinVar dbSNP
Xg.53234969G>ACA516673678IQSEC2c.3876C>T (p.His1292=)
c.1453+814C>T
c.962+814C>T
c.316+1353C>T (n.316+1353C>T)
c.514+1353C>T (n.514+1353C>T)
c.*202C>T (n.*202C>T)
c.3717C>T (p.His1239=)
c.3687C>T (p.His1229=)
c.3813C>T (p.His1271=)
c.3102C>T (p.His1034=)
c.3597+814C>T (n.3597+814C>T)
c.3547+1353C>T (n.3547+1353C>T)
c.3039C>T (p.His1013=)
c.3006C>T (p.His1002=)
c.3219C>T (p.His1073=)
Xg.53234969G>CCA413141279IQSEC2c.3876C>G (p.His1292Gln)
c.1453+814C>G
c.962+814C>G
c.316+1353C>G (n.316+1353C>G)
c.514+1353C>G (n.514+1353C>G)
c.*202C>G (n.*202C>G)
c.3717C>G (p.His1239Gln)
c.3687C>G (p.His1229Gln)
c.3813C>G (p.His1271Gln)
c.3102C>G (p.His1034Gln)
c.3597+814C>G (n.3597+814C>G)
c.3547+1353C>G (n.3547+1353C>G)
c.3039C>G (p.His1013Gln)
c.3006C>G (p.His1002Gln)
c.3219C>G (p.His1073Gln)
Xg.53234969G>TCA413141276IQSEC2c.3876C>A (p.His1292Gln)
c.1453+814C>A
c.962+814C>A
c.316+1353C>A (n.316+1353C>A)
c.514+1353C>A (n.514+1353C>A)
c.*202C>A (n.*202C>A)
c.3717C>A (p.His1239Gln)
c.3687C>A (p.His1229Gln)
c.3813C>A (p.His1271Gln)
c.3102C>A (p.His1034Gln)
c.3597+814C>A (n.3597+814C>A)
c.3547+1353C>A (n.3547+1353C>A)
c.3039C>A (p.His1013Gln)
c.3006C>A (p.His1002Gln)
c.3219C>A (p.His1073Gln)
Xg.53234970T>ACA413141282IQSEC2c.3875A>T (p.His1292Leu)
c.1453+813A>T
c.962+813A>T
c.316+1352A>T (n.316+1352A>T)
c.514+1352A>T (n.514+1352A>T)
c.*201A>T (n.*201A>T)
c.3716A>T (p.His1239Leu)
c.3686A>T (p.His1229Leu)
c.3812A>T (p.His1271Leu)
c.3101A>T (p.His1034Leu)
c.3597+813A>T (n.3597+813A>T)
c.3547+1352A>T (n.3547+1352A>T)
c.3038A>T (p.His1013Leu)
c.3005A>T (p.His1002Leu)
c.3218A>T (p.His1073Leu)
Xg.53234970T>CCA413141284IQSEC2c.3875A>G (p.His1292Arg)
c.1453+813A>G
c.962+813A>G
c.316+1352A>G (n.316+1352A>G)
c.514+1352A>G (n.514+1352A>G)
c.*201A>G (n.*201A>G)
c.3716A>G (p.His1239Arg)
c.3686A>G (p.His1229Arg)
c.3812A>G (p.His1271Arg)
c.3101A>G (p.His1034Arg)
c.3597+813A>G (n.3597+813A>G)
c.3547+1352A>G (n.3547+1352A>G)
c.3038A>G (p.His1013Arg)
c.3005A>G (p.His1002Arg)
c.3218A>G (p.His1073Arg)
 gnomAD v4
Xg.53234970T>GCA413141287IQSEC2c.3875A>C (p.His1292Pro)
c.1453+813A>C
c.962+813A>C
c.316+1352A>C (n.316+1352A>C)
c.514+1352A>C (n.514+1352A>C)
c.*201A>C (n.*201A>C)
c.3716A>C (p.His1239Pro)
c.3686A>C (p.His1229Pro)
c.3812A>C (p.His1271Pro)
c.3101A>C (p.His1034Pro)
c.3597+813A>C (n.3597+813A>C)
c.3547+1352A>C (n.3547+1352A>C)
c.3038A>C (p.His1013Pro)
c.3005A>C (p.His1002Pro)
c.3218A>C (p.His1073Pro)
Xg.53234971G>ACA413141290IQSEC2c.3874C>T (p.His1292Tyr)
c.1453+812C>T
c.962+812C>T
c.316+1351C>T (n.316+1351C>T)
c.514+1351C>T (n.514+1351C>T)
c.*200C>T (n.*200C>T)
c.3715C>T (p.His1239Tyr)
c.3685C>T (p.His1229Tyr)
c.3811C>T (p.His1271Tyr)
c.3100C>T (p.His1034Tyr)
c.3597+812C>T (n.3597+812C>T)
c.3547+1351C>T (n.3547+1351C>T)
c.3037C>T (p.His1013Tyr)
c.3004C>T (p.His1002Tyr)
c.3217C>T (p.His1073Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53234971G>CCA413141300IQSEC2c.3874C>G (p.His1292Asp)
c.1453+812C>G
c.962+812C>G
c.316+1351C>G (n.316+1351C>G)
c.514+1351C>G (n.514+1351C>G)
c.*200C>G (n.*200C>G)
c.3715C>G (p.His1239Asp)
c.3685C>G (p.His1229Asp)
c.3811C>G (p.His1271Asp)
c.3100C>G (p.His1034Asp)
c.3597+812C>G (n.3597+812C>G)
c.3547+1351C>G (n.3547+1351C>G)
c.3037C>G (p.His1013Asp)
c.3004C>G (p.His1002Asp)
c.3217C>G (p.His1073Asp)
Xg.53234971G=CA2429770655IQSEC2c.3874C= (p.His1292=)
c.1453+812C=
c.962+812C=
c.316+1351C= (n.316+1351C=)
c.514+1351C= (n.514+1351C=)
c.*200C= (n.*200C=)
c.3715C= (p.His1239=)
c.3685C= (p.His1229=)
c.3811C= (p.His1271=)
c.3100C= (p.His1034=)
c.3597+812C= (n.3597+812C=)
c.3547+1351C= (n.3547+1351C=)
c.3037C= (p.His1013=)
c.3004C= (p.His1002=)
c.3217C= (p.His1073=)
Xg.53234971G>TCA413141303IQSEC2c.3874C>A (p.His1292Asn)
c.1453+812C>A
c.962+812C>A
c.316+1351C>A (n.316+1351C>A)
c.514+1351C>A (n.514+1351C>A)
c.*200C>A (n.*200C>A)
c.3715C>A (p.His1239Asn)
c.3685C>A (p.His1229Asn)
c.3811C>A (p.His1271Asn)
c.3100C>A (p.His1034Asn)
c.3597+812C>A (n.3597+812C>A)
c.3547+1351C>A (n.3547+1351C>A)
c.3037C>A (p.His1013Asn)
c.3004C>A (p.His1002Asn)
c.3217C>A (p.His1073Asn)
Xg.53234971_53234972delinsGCCA2429770656IQSEC2c.3873_3874delinsGC (p.Thr1291=)
c.1453+811_1453+812delinsGC
c.962+811_962+812delinsGC
c.316+1350_316+1351delinsGC (n.316+1350_316+1351delinsGC)
c.514+1350_514+1351delinsGC (n.514+1350_514+1351delinsGC)
c.*199_*200delinsGC (n.*199_*200delinsGC)
c.3714_3715delinsGC (p.Thr1238=)
c.3684_3685delinsGC (p.Thr1228=)
c.3810_3811delinsGC (p.Thr1270=)
c.3099_3100delinsGC (p.Thr1033=)
c.3597+811_3597+812delinsGC (n.3597+811_3597+812delinsGC)
c.3547+1350_3547+1351delinsGC (n.3547+1350_3547+1351delinsGC)
c.3036_3037delinsGC (p.Thr1012=)
c.3003_3004delinsGC (p.Thr1001=)
c.3216_3217delinsGC (p.Thr1072=)
Xg.53234972delCA641903964IQSEC2c.3873del (p.His1292ThrfsTer?)
c.1453+811del
c.962+811del
c.316+1350del (n.316+1350del)
c.514+1350del (n.514+1350del)
c.*199del (n.*199del)
c.3714del (p.His1239ThrfsTer?)
c.3684del (p.His1229ThrfsTer?)
c.3810del (p.His1271ThrfsTer?)
c.3099del (p.His1034ThrfsTer?)
c.3597+811del (n.3597+811del)
c.3547+1350del (n.3547+1350del)
c.3036del (p.His1013ThrfsTer?)
c.3003del (p.His1002ThrfsTer?)
c.3216del (p.His1073ThrfsTer?)
 dbSNP gnomAD v2
Xg.53234972C>ACA516673681IQSEC2c.3873G>T (p.Thr1291=)
c.1453+811G>T
c.962+811G>T
c.316+1350G>T (n.316+1350G>T)
c.514+1350G>T (n.514+1350G>T)
c.*199G>T (n.*199G>T)
c.3714G>T (p.Thr1238=)
c.3684G>T (p.Thr1228=)
c.3810G>T (p.Thr1270=)
c.3099G>T (p.Thr1033=)
c.3597+811G>T (n.3597+811G>T)
c.3547+1350G>T (n.3547+1350G>T)
c.3036G>T (p.Thr1012=)
c.3003G>T (p.Thr1001=)
c.3216G>T (p.Thr1072=)
 gnomAD v4
Xg.53234972C=CA2429770657IQSEC2c.3873G= (p.Thr1291=)
c.1453+811G=
c.962+811G=
c.316+1350G= (n.316+1350G=)
c.514+1350G= (n.514+1350G=)
c.*199G= (n.*199G=)
c.3714G= (p.Thr1238=)
c.3684G= (p.Thr1228=)
c.3810G= (p.Thr1270=)
c.3099G= (p.Thr1033=)
c.3597+811G= (n.3597+811G=)
c.3547+1350G= (n.3547+1350G=)
c.3036G= (p.Thr1012=)
c.3003G= (p.Thr1001=)
c.3216G= (p.Thr1072=)
Xg.53234972C>GCA516673682IQSEC2c.3873G>C (p.Thr1291=)
c.1453+811G>C
c.962+811G>C
c.316+1350G>C (n.316+1350G>C)
c.514+1350G>C (n.514+1350G>C)
c.*199G>C (n.*199G>C)
c.3714G>C (p.Thr1238=)
c.3684G>C (p.Thr1228=)
c.3810G>C (p.Thr1270=)
c.3099G>C (p.Thr1033=)
c.3597+811G>C (n.3597+811G>C)
c.3547+1350G>C (n.3547+1350G>C)
c.3036G>C (p.Thr1012=)
c.3003G>C (p.Thr1001=)
c.3216G>C (p.Thr1072=)
Xg.53234972C>TCA516673683IQSEC2c.3873G>A (p.Thr1291=)
c.1453+811G>A
c.962+811G>A
c.316+1350G>A (n.316+1350G>A)
c.514+1350G>A (n.514+1350G>A)
c.*199G>A (n.*199G>A)
c.3714G>A (p.Thr1238=)
c.3684G>A (p.Thr1228=)
c.3810G>A (p.Thr1270=)
c.3099G>A (p.Thr1033=)
c.3597+811G>A (n.3597+811G>A)
c.3547+1350G>A (n.3547+1350G>A)
c.3036G>A (p.Thr1012=)
c.3003G>A (p.Thr1001=)
c.3216G>A (p.Thr1072=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234973G>ACA413141312IQSEC2c.3872C>T (p.Thr1291Met)
c.1453+810C>T
c.962+810C>T
c.316+1349C>T (n.316+1349C>T)
c.514+1349C>T (n.514+1349C>T)
c.*198C>T (n.*198C>T)
c.3713C>T (p.Thr1238Met)
c.3683C>T (p.Thr1228Met)
c.3809C>T (p.Thr1270Met)
c.3098C>T (p.Thr1033Met)
c.3597+810C>T (n.3597+810C>T)
c.3547+1349C>T (n.3547+1349C>T)
c.3035C>T (p.Thr1012Met)
c.3002C>T (p.Thr1001Met)
c.3215C>T (p.Thr1072Met)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234973G>CCA413141309IQSEC2c.3872C>G (p.Thr1291Arg)
c.1453+810C>G
c.962+810C>G
c.316+1349C>G (n.316+1349C>G)
c.514+1349C>G (n.514+1349C>G)
c.*198C>G (n.*198C>G)
c.3713C>G (p.Thr1238Arg)
c.3683C>G (p.Thr1228Arg)
c.3809C>G (p.Thr1270Arg)
c.3098C>G (p.Thr1033Arg)
c.3597+810C>G (n.3597+810C>G)
c.3547+1349C>G (n.3547+1349C>G)
c.3035C>G (p.Thr1012Arg)
c.3002C>G (p.Thr1001Arg)
c.3215C>G (p.Thr1072Arg)
Xg.53234973G=CA2429770658IQSEC2c.3872C= (p.Thr1291=)
c.1453+810C=
c.962+810C=
c.316+1349C= (n.316+1349C=)
c.514+1349C= (n.514+1349C=)
c.*198C= (n.*198C=)
c.3713C= (p.Thr1238=)
c.3683C= (p.Thr1228=)
c.3809C= (p.Thr1270=)
c.3098C= (p.Thr1033=)
c.3597+810C= (n.3597+810C=)
c.3547+1349C= (n.3547+1349C=)
c.3035C= (p.Thr1012=)
c.3002C= (p.Thr1001=)
c.3215C= (p.Thr1072=)
Xg.53234973G>TCA413141308IQSEC2c.3872C>A (p.Thr1291Lys)
c.1453+810C>A
c.962+810C>A
c.316+1349C>A (n.316+1349C>A)
c.514+1349C>A (n.514+1349C>A)
c.*198C>A (n.*198C>A)
c.3713C>A (p.Thr1238Lys)
c.3683C>A (p.Thr1228Lys)
c.3809C>A (p.Thr1270Lys)
c.3098C>A (p.Thr1033Lys)
c.3597+810C>A (n.3597+810C>A)
c.3547+1349C>A (n.3547+1349C>A)
c.3035C>A (p.Thr1012Lys)
c.3002C>A (p.Thr1001Lys)
c.3215C>A (p.Thr1072Lys)
 gnomAD v4
Xg.53234974T>ACA413141316IQSEC2c.3871A>T (p.Thr1291Ser)
c.1453+809A>T
c.962+809A>T
c.316+1348A>T (n.316+1348A>T)
c.514+1348A>T (n.514+1348A>T)
c.*197A>T (n.*197A>T)
c.3712A>T (p.Thr1238Ser)
c.3682A>T (p.Thr1228Ser)
c.3808A>T (p.Thr1270Ser)
c.3097A>T (p.Thr1033Ser)
c.3597+809A>T (n.3597+809A>T)
c.3547+1348A>T (n.3547+1348A>T)
c.3034A>T (p.Thr1012Ser)
c.3001A>T (p.Thr1001Ser)
c.3214A>T (p.Thr1072Ser)
Xg.53234974T>CCA413141318IQSEC2c.3871A>G (p.Thr1291Ala)
c.1453+809A>G
c.962+809A>G
c.316+1348A>G (n.316+1348A>G)
c.514+1348A>G (n.514+1348A>G)
c.*197A>G (n.*197A>G)
c.3712A>G (p.Thr1238Ala)
c.3682A>G (p.Thr1228Ala)
c.3808A>G (p.Thr1270Ala)
c.3097A>G (p.Thr1033Ala)
c.3597+809A>G (n.3597+809A>G)
c.3547+1348A>G (n.3547+1348A>G)
c.3034A>G (p.Thr1012Ala)
c.3001A>G (p.Thr1001Ala)
c.3214A>G (p.Thr1072Ala)
Xg.53234974T>GCA413141320IQSEC2c.3871A>C (p.Thr1291Pro)
c.1453+809A>C
c.962+809A>C
c.316+1348A>C (n.316+1348A>C)
c.514+1348A>C (n.514+1348A>C)
c.*197A>C (n.*197A>C)
c.3712A>C (p.Thr1238Pro)
c.3682A>C (p.Thr1228Pro)
c.3808A>C (p.Thr1270Pro)
c.3097A>C (p.Thr1033Pro)
c.3597+809A>C (n.3597+809A>C)
c.3547+1348A>C (n.3547+1348A>C)
c.3034A>C (p.Thr1012Pro)
c.3001A>C (p.Thr1001Pro)
c.3214A>C (p.Thr1072Pro)
Xg.53234975G>ACA516673689IQSEC2c.3870C>T (p.Ser1290=)
c.1453+808C>T
c.962+808C>T
c.316+1347C>T (n.316+1347C>T)
c.514+1347C>T (n.514+1347C>T)
c.*196C>T (n.*196C>T)
c.3711C>T (p.Ser1237=)
c.3681C>T (p.Ser1227=)
c.3807C>T (p.Ser1269=)
c.3096C>T (p.Ser1032=)
c.3597+808C>T (n.3597+808C>T)
c.3547+1347C>T (n.3547+1347C>T)
c.3033C>T (p.Ser1011=)
c.3000C>T (p.Ser1000=)
c.3213C>T (p.Ser1071=)
Xg.53234975G>CCA516673688IQSEC2c.3870C>G (p.Ser1290=)
c.1453+808C>G
c.962+808C>G
c.316+1347C>G (n.316+1347C>G)
c.514+1347C>G (n.514+1347C>G)
c.*196C>G (n.*196C>G)
c.3711C>G (p.Ser1237=)
c.3681C>G (p.Ser1227=)
c.3807C>G (p.Ser1269=)
c.3096C>G (p.Ser1032=)
c.3597+808C>G (n.3597+808C>G)
c.3547+1347C>G (n.3547+1347C>G)
c.3033C>G (p.Ser1011=)
c.3000C>G (p.Ser1000=)
c.3213C>G (p.Ser1071=)
Xg.53234975G>TCA516673687IQSEC2c.3870C>A (p.Ser1290=)
c.1453+808C>A
c.962+808C>A
c.316+1347C>A (n.316+1347C>A)
c.514+1347C>A (n.514+1347C>A)
c.*196C>A (n.*196C>A)
c.3711C>A (p.Ser1237=)
c.3681C>A (p.Ser1227=)
c.3807C>A (p.Ser1269=)
c.3096C>A (p.Ser1032=)
c.3597+808C>A (n.3597+808C>A)
c.3547+1347C>A (n.3547+1347C>A)
c.3033C>A (p.Ser1011=)
c.3000C>A (p.Ser1000=)
c.3213C>A (p.Ser1071=)
Xg.53234976G>ACA413141323IQSEC2c.3869C>T (p.Ser1290Phe)
c.1453+807C>T
c.962+807C>T
c.316+1346C>T (n.316+1346C>T)
c.514+1346C>T (n.514+1346C>T)
c.*195C>T (n.*195C>T)
c.3710C>T (p.Ser1237Phe)
c.3680C>T (p.Ser1227Phe)
c.3806C>T (p.Ser1269Phe)
c.3095C>T (p.Ser1032Phe)
c.3597+807C>T (n.3597+807C>T)
c.3547+1346C>T (n.3547+1346C>T)
c.3032C>T (p.Ser1011Phe)
c.2999C>T (p.Ser1000Phe)
c.3212C>T (p.Ser1071Phe)
Xg.53234976G>CCA413141326IQSEC2c.3869C>G (p.Ser1290Cys)
c.1453+807C>G
c.962+807C>G
c.316+1346C>G (n.316+1346C>G)
c.514+1346C>G (n.514+1346C>G)
c.*195C>G (n.*195C>G)
c.3710C>G (p.Ser1237Cys)
c.3680C>G (p.Ser1227Cys)
c.3806C>G (p.Ser1269Cys)
c.3095C>G (p.Ser1032Cys)
c.3597+807C>G (n.3597+807C>G)
c.3547+1346C>G (n.3547+1346C>G)
c.3032C>G (p.Ser1011Cys)
c.2999C>G (p.Ser1000Cys)
c.3212C>G (p.Ser1071Cys)
Xg.53234976G>TCA413141329IQSEC2c.3869C>A (p.Ser1290Tyr)
c.1453+807C>A
c.962+807C>A
c.316+1346C>A (n.316+1346C>A)
c.514+1346C>A (n.514+1346C>A)
c.*195C>A (n.*195C>A)
c.3710C>A (p.Ser1237Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3095C>A (p.Ser1032Tyr)
c.3597+807C>A (n.3597+807C>A)
c.3547+1346C>A (n.3547+1346C>A)
c.3032C>A (p.Ser1011Tyr)
c.2999C>A (p.Ser1000Tyr)
c.3212C>A (p.Ser1071Tyr)
Xg.53234977A>CCA413141333IQSEC2c.3868T>G (p.Ser1290Ala)
c.1453+806T>G
c.962+806T>G
c.316+1345T>G (n.316+1345T>G)
c.514+1345T>G (n.514+1345T>G)
c.*194T>G (n.*194T>G)
c.3709T>G (p.Ser1237Ala)
c.3679T>G (p.Ser1227Ala)
c.3805T>G (p.Ser1269Ala)
c.3094T>G (p.Ser1032Ala)
c.3597+806T>G (n.3597+806T>G)
c.3547+1345T>G (n.3547+1345T>G)
c.3031T>G (p.Ser1011Ala)
c.2998T>G (p.Ser1000Ala)
c.3211T>G (p.Ser1071Ala)
Xg.53234977A>GCA413141336IQSEC2c.3868T>C (p.Ser1290Pro)
c.1453+806T>C
c.962+806T>C
c.316+1345T>C (n.316+1345T>C)
c.514+1345T>C (n.514+1345T>C)
c.*194T>C (n.*194T>C)
c.3709T>C (p.Ser1237Pro)
c.3679T>C (p.Ser1227Pro)
c.3805T>C (p.Ser1269Pro)
c.3094T>C (p.Ser1032Pro)
c.3597+806T>C (n.3597+806T>C)
c.3547+1345T>C (n.3547+1345T>C)
c.3031T>C (p.Ser1011Pro)
c.2998T>C (p.Ser1000Pro)
c.3211T>C (p.Ser1071Pro)
Xg.53234977A>TCA413141335IQSEC2c.3868T>A (p.Ser1290Thr)
c.1453+806T>A
c.962+806T>A
c.316+1345T>A (n.316+1345T>A)
c.514+1345T>A (n.514+1345T>A)
c.*194T>A (n.*194T>A)
c.3709T>A (p.Ser1237Thr)
c.3679T>A (p.Ser1227Thr)
c.3805T>A (p.Ser1269Thr)
c.3094T>A (p.Ser1032Thr)
c.3597+806T>A (n.3597+806T>A)
c.3547+1345T>A (n.3547+1345T>A)
c.3031T>A (p.Ser1011Thr)
c.2998T>A (p.Ser1000Thr)
c.3211T>A (p.Ser1071Thr)
Xg.53234978A=CA2429770659IQSEC2c.3867T= (p.Ser1289=)
c.1453+805T=
c.962+805T=
c.316+1344T= (n.316+1344T=)
c.514+1344T= (n.514+1344T=)
c.*193T= (n.*193T=)
c.3708T= (p.Ser1236=)
c.3678T= (p.Ser1226=)
c.3804T= (p.Ser1268=)
c.3093T= (p.Ser1031=)
c.3597+805T= (n.3597+805T=)
c.3547+1344T= (n.3547+1344T=)
c.3030T= (p.Ser1010=)
c.2997T= (p.Ser999=)
c.3210T= (p.Ser1070=)
Xg.53234978A>CCA516673702IQSEC2c.3867T>G (p.Ser1289=)
c.1453+805T>G
c.962+805T>G
c.316+1344T>G (n.316+1344T>G)
c.514+1344T>G (n.514+1344T>G)
c.*193T>G (n.*193T>G)
c.3708T>G (p.Ser1236=)
c.3678T>G (p.Ser1226=)
c.3804T>G (p.Ser1268=)
c.3093T>G (p.Ser1031=)
c.3597+805T>G (n.3597+805T>G)
c.3547+1344T>G (n.3547+1344T>G)
c.3030T>G (p.Ser1010=)
c.2997T>G (p.Ser999=)
c.3210T>G (p.Ser1070=)
Xg.53234978A>GCA516673700IQSEC2c.3867T>C (p.Ser1289=)
c.1453+805T>C
c.962+805T>C
c.316+1344T>C (n.316+1344T>C)
c.514+1344T>C (n.514+1344T>C)
c.*193T>C (n.*193T>C)
c.3708T>C (p.Ser1236=)
c.3678T>C (p.Ser1226=)
c.3804T>C (p.Ser1268=)
c.3093T>C (p.Ser1031=)
c.3597+805T>C (n.3597+805T>C)
c.3547+1344T>C (n.3547+1344T>C)
c.3030T>C (p.Ser1010=)
c.2997T>C (p.Ser999=)
c.3210T>C (p.Ser1070=)
 ClinVar dbSNP
Xg.53234978A>TCA516673698IQSEC2c.3867T>A (p.Ser1289=)
c.1453+805T>A
c.962+805T>A
c.316+1344T>A (n.316+1344T>A)
c.514+1344T>A (n.514+1344T>A)
c.*193T>A (n.*193T>A)
c.3708T>A (p.Ser1236=)
c.3678T>A (p.Ser1226=)
c.3804T>A (p.Ser1268=)
c.3093T>A (p.Ser1031=)
c.3597+805T>A (n.3597+805T>A)
c.3547+1344T>A (n.3547+1344T>A)
c.3030T>A (p.Ser1010=)
c.2997T>A (p.Ser999=)
c.3210T>A (p.Ser1070=)
Xg.53234979G>ACA413141337IQSEC2c.3866C>T (p.Ser1289Phe)
c.1453+804C>T
c.962+804C>T
c.316+1343C>T (n.316+1343C>T)
c.514+1343C>T (n.514+1343C>T)
c.*192C>T (n.*192C>T)
c.3707C>T (p.Ser1236Phe)
c.3677C>T (p.Ser1226Phe)
c.3803C>T (p.Ser1268Phe)
c.3092C>T (p.Ser1031Phe)
c.3597+804C>T (n.3597+804C>T)
c.3547+1343C>T (n.3547+1343C>T)
c.3029C>T (p.Ser1010Phe)
c.2996C>T (p.Ser999Phe)
c.3209C>T (p.Ser1070Phe)
Xg.53234979G>CCA413141338IQSEC2c.3866C>G (p.Ser1289Cys)
c.1453+804C>G
c.962+804C>G
c.316+1343C>G (n.316+1343C>G)
c.514+1343C>G (n.514+1343C>G)
c.*192C>G (n.*192C>G)
c.3707C>G (p.Ser1236Cys)
c.3677C>G (p.Ser1226Cys)
c.3803C>G (p.Ser1268Cys)
c.3092C>G (p.Ser1031Cys)
c.3597+804C>G (n.3597+804C>G)
c.3547+1343C>G (n.3547+1343C>G)
c.3029C>G (p.Ser1010Cys)
c.2996C>G (p.Ser999Cys)
c.3209C>G (p.Ser1070Cys)
Xg.53234979G>TCA413141340IQSEC2c.3866C>A (p.Ser1289Tyr)
c.1453+804C>A
c.962+804C>A
c.316+1343C>A (n.316+1343C>A)
c.514+1343C>A (n.514+1343C>A)
c.*192C>A (n.*192C>A)
c.3707C>A (p.Ser1236Tyr)
c.3677C>A (p.Ser1226Tyr)
c.3803C>A (p.Ser1268Tyr)
c.3092C>A (p.Ser1031Tyr)
c.3597+804C>A (n.3597+804C>A)
c.3547+1343C>A (n.3547+1343C>A)
c.3029C>A (p.Ser1010Tyr)
c.2996C>A (p.Ser999Tyr)
c.3209C>A (p.Ser1070Tyr)
Xg.53234980A>CCA413141342IQSEC2c.3865T>G (p.Ser1289Ala)
c.1453+803T>G
c.962+803T>G
c.316+1342T>G (n.316+1342T>G)
c.514+1342T>G (n.514+1342T>G)
c.*191T>G (n.*191T>G)
c.3706T>G (p.Ser1236Ala)
c.3676T>G (p.Ser1226Ala)
c.3802T>G (p.Ser1268Ala)
c.3091T>G (p.Ser1031Ala)
c.3597+803T>G (n.3597+803T>G)
c.3547+1342T>G (n.3547+1342T>G)
c.3028T>G (p.Ser1010Ala)
c.2995T>G (p.Ser999Ala)
c.3208T>G (p.Ser1070Ala)
Xg.53234980A>GCA413141343IQSEC2c.3865T>C (p.Ser1289Pro)
c.1453+803T>C
c.962+803T>C
c.316+1342T>C (n.316+1342T>C)
c.514+1342T>C (n.514+1342T>C)
c.*191T>C (n.*191T>C)
c.3706T>C (p.Ser1236Pro)
c.3676T>C (p.Ser1226Pro)
c.3802T>C (p.Ser1268Pro)
c.3091T>C (p.Ser1031Pro)
c.3597+803T>C (n.3597+803T>C)
c.3547+1342T>C (n.3547+1342T>C)
c.3028T>C (p.Ser1010Pro)
c.2995T>C (p.Ser999Pro)
c.3208T>C (p.Ser1070Pro)
Xg.53234980A>TCA413141344IQSEC2c.3865T>A (p.Ser1289Thr)
c.1453+803T>A
c.962+803T>A
c.316+1342T>A (n.316+1342T>A)
c.514+1342T>A (n.514+1342T>A)
c.*191T>A (n.*191T>A)
c.3706T>A (p.Ser1236Thr)
c.3676T>A (p.Ser1226Thr)
c.3802T>A (p.Ser1268Thr)
c.3091T>A (p.Ser1031Thr)
c.3597+803T>A (n.3597+803T>A)
c.3547+1342T>A (n.3547+1342T>A)
c.3028T>A (p.Ser1010Thr)
c.2995T>A (p.Ser999Thr)
c.3208T>A (p.Ser1070Thr)
Xg.53234981A>CCA516673706IQSEC2c.3864T>G (p.Ala1288=)
c.1453+802T>G
c.962+802T>G
c.316+1341T>G (n.316+1341T>G)
c.514+1341T>G (n.514+1341T>G)
c.*190T>G (n.*190T>G)
c.3705T>G (p.Ala1235=)
c.3675T>G (p.Ala1225=)
c.3801T>G (p.Ala1267=)
c.3090T>G (p.Ala1030=)
c.3597+802T>G (n.3597+802T>G)
c.3547+1341T>G (n.3547+1341T>G)
c.3027T>G (p.Ala1009=)
c.2994T>G (p.Ala998=)
c.3207T>G (p.Ala1069=)
Xg.53234981A>GCA516673708IQSEC2c.3864T>C (p.Ala1288=)
c.1453+802T>C
c.962+802T>C
c.316+1341T>C (n.316+1341T>C)
c.514+1341T>C (n.514+1341T>C)
c.*190T>C (n.*190T>C)
c.3705T>C (p.Ala1235=)
c.3675T>C (p.Ala1225=)
c.3801T>C (p.Ala1267=)
c.3090T>C (p.Ala1030=)
c.3597+802T>C (n.3597+802T>C)
c.3547+1341T>C (n.3547+1341T>C)
c.3027T>C (p.Ala1009=)
c.2994T>C (p.Ala998=)
c.3207T>C (p.Ala1069=)
Xg.53234981A>TCA516673707IQSEC2c.3864T>A (p.Ala1288=)
c.1453+802T>A
c.962+802T>A
c.316+1341T>A (n.316+1341T>A)
c.514+1341T>A (n.514+1341T>A)
c.*190T>A (n.*190T>A)
c.3705T>A (p.Ala1235=)
c.3675T>A (p.Ala1225=)
c.3801T>A (p.Ala1267=)
c.3090T>A (p.Ala1030=)
c.3597+802T>A (n.3597+802T>A)
c.3547+1341T>A (n.3547+1341T>A)
c.3027T>A (p.Ala1009=)
c.2994T>A (p.Ala998=)
c.3207T>A (p.Ala1069=)
Xg.53234982G>ACA413141346IQSEC2c.3863C>T (p.Ala1288Val)
c.1453+801C>T
c.962+801C>T
c.316+1340C>T (n.316+1340C>T)
c.514+1340C>T (n.514+1340C>T)
c.*189C>T (n.*189C>T)
c.3704C>T (p.Ala1235Val)
c.3674C>T (p.Ala1225Val)
c.3800C>T (p.Ala1267Val)
c.3089C>T (p.Ala1030Val)
c.3597+801C>T (n.3597+801C>T)
c.3547+1340C>T (n.3547+1340C>T)
c.3026C>T (p.Ala1009Val)
c.2993C>T (p.Ala998Val)
c.3206C>T (p.Ala1069Val)
 gnomAD v4
Xg.53234982G>CCA413141349IQSEC2c.3863C>G (p.Ala1288Gly)
c.1453+801C>G
c.962+801C>G
c.316+1340C>G (n.316+1340C>G)
c.514+1340C>G (n.514+1340C>G)
c.*189C>G (n.*189C>G)
c.3704C>G (p.Ala1235Gly)
c.3674C>G (p.Ala1225Gly)
c.3800C>G (p.Ala1267Gly)
c.3089C>G (p.Ala1030Gly)
c.3597+801C>G (n.3597+801C>G)
c.3547+1340C>G (n.3547+1340C>G)
c.3026C>G (p.Ala1009Gly)
c.2993C>G (p.Ala998Gly)
c.3206C>G (p.Ala1069Gly)
Xg.53234982G>TCA413141350IQSEC2c.3863C>A (p.Ala1288Asp)
c.1453+801C>A
c.962+801C>A
c.316+1340C>A (n.316+1340C>A)
c.514+1340C>A (n.514+1340C>A)
c.*189C>A (n.*189C>A)
c.3704C>A (p.Ala1235Asp)
c.3674C>A (p.Ala1225Asp)
c.3800C>A (p.Ala1267Asp)
c.3089C>A (p.Ala1030Asp)
c.3597+801C>A (n.3597+801C>A)
c.3547+1340C>A (n.3547+1340C>A)
c.3026C>A (p.Ala1009Asp)
c.2993C>A (p.Ala998Asp)
c.3206C>A (p.Ala1069Asp)
Xg.53234983C>ACA413141353IQSEC2c.3862G>T (p.Ala1288Ser)
c.1453+800G>T
c.962+800G>T
c.316+1339G>T (n.316+1339G>T)
c.514+1339G>T (n.514+1339G>T)
c.*188G>T (n.*188G>T)
c.3703G>T (p.Ala1235Ser)
c.3673G>T (p.Ala1225Ser)
c.3799G>T (p.Ala1267Ser)
c.3088G>T (p.Ala1030Ser)
c.3597+800G>T (n.3597+800G>T)
c.3547+1339G>T (n.3547+1339G>T)
c.3025G>T (p.Ala1009Ser)
c.2992G>T (p.Ala998Ser)
c.3205G>T (p.Ala1069Ser)
Xg.53234983C=CA2429770660IQSEC2c.3862G= (p.Ala1288=)
c.1453+800G=
c.962+800G=
c.316+1339G= (n.316+1339G=)
c.514+1339G= (n.514+1339G=)
c.*188G= (n.*188G=)
c.3703G= (p.Ala1235=)
c.3673G= (p.Ala1225=)
c.3799G= (p.Ala1267=)
c.3088G= (p.Ala1030=)
c.3597+800G= (n.3597+800G=)
c.3547+1339G= (n.3547+1339G=)
c.3025G= (p.Ala1009=)
c.2992G= (p.Ala998=)
c.3205G= (p.Ala1069=)
Xg.53234983C>GCA413141356IQSEC2c.3862G>C (p.Ala1288Pro)
c.1453+800G>C
c.962+800G>C
c.316+1339G>C (n.316+1339G>C)
c.514+1339G>C (n.514+1339G>C)
c.*188G>C (n.*188G>C)
c.3703G>C (p.Ala1235Pro)
c.3673G>C (p.Ala1225Pro)
c.3799G>C (p.Ala1267Pro)
c.3088G>C (p.Ala1030Pro)
c.3597+800G>C (n.3597+800G>C)
c.3547+1339G>C (n.3547+1339G>C)
c.3025G>C (p.Ala1009Pro)
c.2992G>C (p.Ala998Pro)
c.3205G>C (p.Ala1069Pro)
Xg.53234983C>TCA10419779IQSEC2c.3862G>A (p.Ala1288Thr)
c.1453+800G>A
c.962+800G>A
c.316+1339G>A (n.316+1339G>A)
c.514+1339G>A (n.514+1339G>A)
c.*188G>A (n.*188G>A)
c.3703G>A (p.Ala1235Thr)
c.3673G>A (p.Ala1225Thr)
c.3799G>A (p.Ala1267Thr)
c.3088G>A (p.Ala1030Thr)
c.3597+800G>A (n.3597+800G>A)
c.3547+1339G>A (n.3547+1339G>A)
c.3025G>A (p.Ala1009Thr)
c.2992G>A (p.Ala998Thr)
c.3205G>A (p.Ala1069Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53234984A>CCA516673717IQSEC2c.3861T>G (p.Ser1287=)
c.1453+799T>G
c.962+799T>G
c.316+1338T>G (n.316+1338T>G)
c.514+1338T>G (n.514+1338T>G)
c.*187T>G (n.*187T>G)
c.3702T>G (p.Ser1234=)
c.3672T>G (p.Ser1224=)
c.3798T>G (p.Ser1266=)
c.3087T>G (p.Ser1029=)
c.3597+799T>G (n.3597+799T>G)
c.3547+1338T>G (n.3547+1338T>G)
c.3024T>G (p.Ser1008=)
c.2991T>G (p.Ser997=)
c.3204T>G (p.Ser1068=)
Xg.53234984A>GCA516673719IQSEC2c.3861T>C (p.Ser1287=)
c.1453+799T>C
c.962+799T>C
c.316+1338T>C (n.316+1338T>C)
c.514+1338T>C (n.514+1338T>C)
c.*187T>C (n.*187T>C)
c.3702T>C (p.Ser1234=)
c.3672T>C (p.Ser1224=)
c.3798T>C (p.Ser1266=)
c.3087T>C (p.Ser1029=)
c.3597+799T>C (n.3597+799T>C)
c.3547+1338T>C (n.3547+1338T>C)
c.3024T>C (p.Ser1008=)
c.2991T>C (p.Ser997=)
c.3204T>C (p.Ser1068=)
Xg.53234984A>TCA516673720IQSEC2c.3861T>A (p.Ser1287=)
c.1453+799T>A
c.962+799T>A
c.316+1338T>A (n.316+1338T>A)
c.514+1338T>A (n.514+1338T>A)
c.*187T>A (n.*187T>A)
c.3702T>A (p.Ser1234=)
c.3672T>A (p.Ser1224=)
c.3798T>A (p.Ser1266=)
c.3087T>A (p.Ser1029=)
c.3597+799T>A (n.3597+799T>A)
c.3547+1338T>A (n.3547+1338T>A)
c.3024T>A (p.Ser1008=)
c.2991T>A (p.Ser997=)
c.3204T>A (p.Ser1068=)
Xg.53234985G>ACA413141366IQSEC2c.3860C>T (p.Ser1287Phe)
c.1453+798C>T
c.962+798C>T
c.316+1337C>T (n.316+1337C>T)
c.514+1337C>T (n.514+1337C>T)
c.*186C>T (n.*186C>T)
c.3701C>T (p.Ser1234Phe)
c.3671C>T (p.Ser1224Phe)
c.3797C>T (p.Ser1266Phe)
c.3086C>T (p.Ser1029Phe)
c.3597+798C>T (n.3597+798C>T)
c.3547+1337C>T (n.3547+1337C>T)
c.3023C>T (p.Ser1008Phe)
c.2990C>T (p.Ser997Phe)
c.3203C>T (p.Ser1068Phe)
Xg.53234985G>CCA413141370IQSEC2c.3860C>G (p.Ser1287Cys)
c.1453+798C>G
c.962+798C>G
c.316+1337C>G (n.316+1337C>G)
c.514+1337C>G (n.514+1337C>G)
c.*186C>G (n.*186C>G)
c.3701C>G (p.Ser1234Cys)
c.3671C>G (p.Ser1224Cys)
c.3797C>G (p.Ser1266Cys)
c.3086C>G (p.Ser1029Cys)
c.3597+798C>G (n.3597+798C>G)
c.3547+1337C>G (n.3547+1337C>G)
c.3023C>G (p.Ser1008Cys)
c.2990C>G (p.Ser997Cys)
c.3203C>G (p.Ser1068Cys)
Xg.53234985G>TCA413141363IQSEC2c.3860C>A (p.Ser1287Tyr)
c.1453+798C>A
c.962+798C>A
c.316+1337C>A (n.316+1337C>A)
c.514+1337C>A (n.514+1337C>A)
c.*186C>A (n.*186C>A)
c.3701C>A (p.Ser1234Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3086C>A (p.Ser1029Tyr)
c.3597+798C>A (n.3597+798C>A)
c.3547+1337C>A (n.3547+1337C>A)
c.3023C>A (p.Ser1008Tyr)
c.2990C>A (p.Ser997Tyr)
c.3203C>A (p.Ser1068Tyr)
Xg.53234986A>CCA413141375IQSEC2c.3859T>G (p.Ser1287Ala)
c.1453+797T>G
c.962+797T>G
c.316+1336T>G (n.316+1336T>G)
c.514+1336T>G (n.514+1336T>G)
c.*185T>G (n.*185T>G)
c.3700T>G (p.Ser1234Ala)
c.3670T>G (p.Ser1224Ala)
c.3796T>G (p.Ser1266Ala)
c.3085T>G (p.Ser1029Ala)
c.3597+797T>G (n.3597+797T>G)
c.3547+1336T>G (n.3547+1336T>G)
c.3022T>G (p.Ser1008Ala)
c.2989T>G (p.Ser997Ala)
c.3202T>G (p.Ser1068Ala)
Xg.53234986A>GCA413141372IQSEC2c.3859T>C (p.Ser1287Pro)
c.1453+797T>C
c.962+797T>C
c.316+1336T>C (n.316+1336T>C)
c.514+1336T>C (n.514+1336T>C)
c.*185T>C (n.*185T>C)
c.3700T>C (p.Ser1234Pro)
c.3670T>C (p.Ser1224Pro)
c.3796T>C (p.Ser1266Pro)
c.3085T>C (p.Ser1029Pro)
c.3597+797T>C (n.3597+797T>C)
c.3547+1336T>C (n.3547+1336T>C)
c.3022T>C (p.Ser1008Pro)
c.2989T>C (p.Ser997Pro)
c.3202T>C (p.Ser1068Pro)
Xg.53234986A>TCA413141377IQSEC2c.3859T>A (p.Ser1287Thr)
c.1453+797T>A
c.962+797T>A
c.316+1336T>A (n.316+1336T>A)
c.514+1336T>A (n.514+1336T>A)
c.*185T>A (n.*185T>A)
c.3700T>A (p.Ser1234Thr)
c.3670T>A (p.Ser1224Thr)
c.3796T>A (p.Ser1266Thr)
c.3085T>A (p.Ser1029Thr)
c.3597+797T>A (n.3597+797T>A)
c.3547+1336T>A (n.3547+1336T>A)
c.3022T>A (p.Ser1008Thr)
c.2989T>A (p.Ser997Thr)
c.3202T>A (p.Ser1068Thr)
Xg.53234987T>ACA516673726IQSEC2c.3858A>T (p.Ser1286=)
c.1453+796A>T
c.962+796A>T
c.316+1335A>T (n.316+1335A>T)
c.514+1335A>T (n.514+1335A>T)
c.*184A>T (n.*184A>T)
c.3699A>T (p.Ser1233=)
c.3669A>T (p.Ser1223=)
c.3795A>T (p.Ser1265=)
c.3084A>T (p.Ser1028=)
c.3597+796A>T (n.3597+796A>T)
c.3547+1335A>T (n.3547+1335A>T)
c.3021A>T (p.Ser1007=)
c.2988A>T (p.Ser996=)
c.3201A>T (p.Ser1067=)
 gnomAD v4
Xg.53234987T>CCA516673727IQSEC2c.3858A>G (p.Ser1286=)
c.1453+796A>G
c.962+796A>G
c.316+1335A>G (n.316+1335A>G)
c.514+1335A>G (n.514+1335A>G)
c.*184A>G (n.*184A>G)
c.3699A>G (p.Ser1233=)
c.3669A>G (p.Ser1223=)
c.3795A>G (p.Ser1265=)
c.3084A>G (p.Ser1028=)
c.3597+796A>G (n.3597+796A>G)
c.3547+1335A>G (n.3547+1335A>G)
c.3021A>G (p.Ser1007=)
c.2988A>G (p.Ser996=)
c.3201A>G (p.Ser1067=)
Xg.53234987T>GCA516673729IQSEC2c.3858A>C (p.Ser1286=)
c.1453+796A>C
c.962+796A>C
c.316+1335A>C (n.316+1335A>C)
c.514+1335A>C (n.514+1335A>C)
c.*184A>C (n.*184A>C)
c.3699A>C (p.Ser1233=)
c.3669A>C (p.Ser1223=)
c.3795A>C (p.Ser1265=)
c.3084A>C (p.Ser1028=)
c.3597+796A>C (n.3597+796A>C)
c.3547+1335A>C (n.3547+1335A>C)
c.3021A>C (p.Ser1007=)
c.2988A>C (p.Ser996=)
c.3201A>C (p.Ser1067=)
Xg.53234987_53234993delinsTGAAGAGCA2429770661IQSEC2c.3852_3858delinsCTCTTCA (p.Ser1284=)
c.1453+790_1453+796delinsCTCTTCA
c.962+790_962+796delinsCTCTTCA
c.316+1329_316+1335delinsCTCTTCA (n.316+1329_316+1335delinsCTCTTCA)
c.514+1329_514+1335delinsCTCTTCA (n.514+1329_514+1335delinsCTCTTCA)
c.*178_*184delinsCTCTTCA (n.*178_*184delinsCTCTTCA)
c.3693_3699delinsCTCTTCA (p.Ser1231=)
c.3663_3669delinsCTCTTCA (p.Ser1221=)
c.3789_3795delinsCTCTTCA (p.Ser1263=)
c.3078_3084delinsCTCTTCA (p.Ser1026=)
c.3597+790_3597+796delinsCTCTTCA (n.3597+790_3597+796delinsCTCTTCA)
c.3547+1329_3547+1335delinsCTCTTCA (n.3547+1329_3547+1335delinsCTCTTCA)
c.3015_3021delinsCTCTTCA (p.Ser1005=)
c.2982_2988delinsCTCTTCA (p.Ser994=)
c.3195_3201delinsCTCTTCA (p.Ser1065=)
Xg.53234988G>ACA413141381IQSEC2c.3857C>T (p.Ser1286Leu)
c.1453+795C>T
c.962+795C>T
c.316+1334C>T (n.316+1334C>T)
c.514+1334C>T (n.514+1334C>T)
c.*183C>T (n.*183C>T)
c.3698C>T (p.Ser1233Leu)
c.3668C>T (p.Ser1223Leu)
c.3794C>T (p.Ser1265Leu)
c.3083C>T (p.Ser1028Leu)
c.3597+795C>T (n.3597+795C>T)
c.3547+1334C>T (n.3547+1334C>T)
c.3020C>T (p.Ser1007Leu)
c.2987C>T (p.Ser996Leu)
c.3200C>T (p.Ser1067Leu)
Xg.53234988G>CCA413141387IQSEC2c.3857C>G (p.Ser1286Ter)
c.1453+795C>G
c.962+795C>G
c.316+1334C>G (n.316+1334C>G)
c.514+1334C>G (n.514+1334C>G)
c.*183C>G (n.*183C>G)
c.3698C>G (p.Ser1233Ter)
c.3668C>G (p.Ser1223Ter)
c.3794C>G (p.Ser1265Ter)
c.3083C>G (p.Ser1028Ter)
c.3597+795C>G (n.3597+795C>G)
c.3547+1334C>G (n.3547+1334C>G)
c.3020C>G (p.Ser1007Ter)
c.2987C>G (p.Ser996Ter)
c.3200C>G (p.Ser1067Ter)
Xg.53234988G>TCA413141384IQSEC2c.3857C>A (p.Ser1286Ter)
c.1453+795C>A
c.962+795C>A
c.316+1334C>A (n.316+1334C>A)
c.514+1334C>A (n.514+1334C>A)
c.*183C>A (n.*183C>A)
c.3698C>A (p.Ser1233Ter)
c.3668C>A (p.Ser1223Ter)
c.3794C>A (p.Ser1265Ter)
c.3083C>A (p.Ser1028Ter)
c.3597+795C>A (n.3597+795C>A)
c.3547+1334C>A (n.3547+1334C>A)
c.3020C>A (p.Ser1007Ter)
c.2987C>A (p.Ser996Ter)
c.3200C>A (p.Ser1067Ter)
Xg.53234990_53234995delCA10419780IQSEC2c.3852_3857del (p.Ser1285_Ser1286del)
c.1453+790_1453+795del
c.962+790_962+795del
c.316+1329_316+1334del (n.316+1329_316+1334del)
c.514+1329_514+1334del (n.514+1329_514+1334del)
c.*178_*183del (n.*178_*183del)
c.3693_3698del (p.Ser1232_Ser1233del)
c.3663_3668del (p.Ser1222_Ser1223del)
c.3789_3794del (p.Ser1264_Ser1265del)
c.3078_3083del (p.Ser1027_Ser1028del)
c.3597+790_3597+795del (n.3597+790_3597+795del)
c.3547+1329_3547+1334del (n.3547+1329_3547+1334del)
c.3015_3020del (p.Ser1006_Ser1007del)
c.2982_2987del (p.Ser995_Ser996del)
c.3195_3200del (p.Ser1066_Ser1067del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234989A>CCA413141390IQSEC2c.3856T>G (p.Ser1286Ala)
c.1453+794T>G
c.962+794T>G
c.316+1333T>G (n.316+1333T>G)
c.514+1333T>G (n.514+1333T>G)
c.*182T>G (n.*182T>G)
c.3697T>G (p.Ser1233Ala)
c.3667T>G (p.Ser1223Ala)
c.3793T>G (p.Ser1265Ala)
c.3082T>G (p.Ser1028Ala)
c.3597+794T>G (n.3597+794T>G)
c.3547+1333T>G (n.3547+1333T>G)
c.3019T>G (p.Ser1007Ala)
c.2986T>G (p.Ser996Ala)
c.3199T>G (p.Ser1067Ala)
Xg.53234989A>GCA413141396IQSEC2c.3856T>C (p.Ser1286Pro)
c.1453+794T>C
c.962+794T>C
c.316+1333T>C (n.316+1333T>C)
c.514+1333T>C (n.514+1333T>C)
c.*182T>C (n.*182T>C)
c.3697T>C (p.Ser1233Pro)
c.3667T>C (p.Ser1223Pro)
c.3793T>C (p.Ser1265Pro)
c.3082T>C (p.Ser1028Pro)
c.3597+794T>C (n.3597+794T>C)
c.3547+1333T>C (n.3547+1333T>C)
c.3019T>C (p.Ser1007Pro)
c.2986T>C (p.Ser996Pro)
c.3199T>C (p.Ser1067Pro)
Xg.53234989A>TCA413141393IQSEC2c.3856T>A (p.Ser1286Thr)
c.1453+794T>A
c.962+794T>A
c.316+1333T>A (n.316+1333T>A)
c.514+1333T>A (n.514+1333T>A)
c.*182T>A (n.*182T>A)
c.3697T>A (p.Ser1233Thr)
c.3667T>A (p.Ser1223Thr)
c.3793T>A (p.Ser1265Thr)
c.3082T>A (p.Ser1028Thr)
c.3597+794T>A (n.3597+794T>A)
c.3547+1333T>A (n.3547+1333T>A)
c.3019T>A (p.Ser1007Thr)
c.2986T>A (p.Ser996Thr)
c.3199T>A (p.Ser1067Thr)
Xg.53234990A=CA2429770662IQSEC2c.3855T= (p.Ser1285=)
c.1453+793T=
c.962+793T=
c.316+1332T= (n.316+1332T=)
c.514+1332T= (n.514+1332T=)
c.*181T= (n.*181T=)
c.3696T= (p.Ser1232=)
c.3666T= (p.Ser1222=)
c.3792T= (p.Ser1264=)
c.3081T= (p.Ser1027=)
c.3597+793T= (n.3597+793T=)
c.3547+1332T= (n.3547+1332T=)
c.3018T= (p.Ser1006=)
c.2985T= (p.Ser995=)
c.3198T= (p.Ser1066=)
Xg.53234990A>CCA516673736IQSEC2c.3855T>G (p.Ser1285=)
c.1453+793T>G
c.962+793T>G
c.316+1332T>G (n.316+1332T>G)
c.514+1332T>G (n.514+1332T>G)
c.*181T>G (n.*181T>G)
c.3696T>G (p.Ser1232=)
c.3666T>G (p.Ser1222=)
c.3792T>G (p.Ser1264=)
c.3081T>G (p.Ser1027=)
c.3597+793T>G (n.3597+793T>G)
c.3547+1332T>G (n.3547+1332T>G)
c.3018T>G (p.Ser1006=)
c.2985T>G (p.Ser995=)
c.3198T>G (p.Ser1066=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234990A>GCA516673737IQSEC2c.3855T>C (p.Ser1285=)
c.1453+793T>C
c.962+793T>C
c.316+1332T>C (n.316+1332T>C)
c.514+1332T>C (n.514+1332T>C)
c.*181T>C (n.*181T>C)
c.3696T>C (p.Ser1232=)
c.3666T>C (p.Ser1222=)
c.3792T>C (p.Ser1264=)
c.3081T>C (p.Ser1027=)
c.3597+793T>C (n.3597+793T>C)
c.3547+1332T>C (n.3547+1332T>C)
c.3018T>C (p.Ser1006=)
c.2985T>C (p.Ser995=)
c.3198T>C (p.Ser1066=)
Xg.53234990A>TCA516673738IQSEC2c.3855T>A (p.Ser1285=)
c.1453+793T>A
c.962+793T>A
c.316+1332T>A (n.316+1332T>A)
c.514+1332T>A (n.514+1332T>A)
c.*181T>A (n.*181T>A)
c.3696T>A (p.Ser1232=)
c.3666T>A (p.Ser1222=)
c.3792T>A (p.Ser1264=)
c.3081T>A (p.Ser1027=)
c.3597+793T>A (n.3597+793T>A)
c.3547+1332T>A (n.3547+1332T>A)
c.3018T>A (p.Ser1006=)
c.2985T>A (p.Ser995=)
c.3198T>A (p.Ser1066=)
Xg.53234991G>ACA413141398IQSEC2c.3854C>T (p.Ser1285Phe)
c.1453+792C>T
c.962+792C>T
c.316+1331C>T (n.316+1331C>T)
c.514+1331C>T (n.514+1331C>T)
c.*180C>T (n.*180C>T)
c.3695C>T (p.Ser1232Phe)
c.3665C>T (p.Ser1222Phe)
c.3791C>T (p.Ser1264Phe)
c.3080C>T (p.Ser1027Phe)
c.3597+792C>T (n.3597+792C>T)
c.3547+1331C>T (n.3547+1331C>T)
c.3017C>T (p.Ser1006Phe)
c.2984C>T (p.Ser995Phe)
c.3197C>T (p.Ser1066Phe)
Xg.53234991G>CCA413141400IQSEC2c.3854C>G (p.Ser1285Cys)
c.1453+792C>G
c.962+792C>G
c.316+1331C>G (n.316+1331C>G)
c.514+1331C>G (n.514+1331C>G)
c.*180C>G (n.*180C>G)
c.3695C>G (p.Ser1232Cys)
c.3665C>G (p.Ser1222Cys)
c.3791C>G (p.Ser1264Cys)
c.3080C>G (p.Ser1027Cys)
c.3597+792C>G (n.3597+792C>G)
c.3547+1331C>G (n.3547+1331C>G)
c.3017C>G (p.Ser1006Cys)
c.2984C>G (p.Ser995Cys)
c.3197C>G (p.Ser1066Cys)
Xg.53234991G>TCA413141403IQSEC2c.3854C>A (p.Ser1285Tyr)
c.1453+792C>A
c.962+792C>A
c.316+1331C>A (n.316+1331C>A)
c.514+1331C>A (n.514+1331C>A)
c.*180C>A (n.*180C>A)
c.3695C>A (p.Ser1232Tyr)
c.3665C>A (p.Ser1222Tyr)
c.3791C>A (p.Ser1264Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3597+792C>A (n.3597+792C>A)
c.3547+1331C>A (n.3547+1331C>A)
c.3017C>A (p.Ser1006Tyr)
c.2984C>A (p.Ser995Tyr)
c.3197C>A (p.Ser1066Tyr)
Xg.53234995_53234997delCA2693794293IQSEC2c.3852_3854del (p.Ser1285del)
c.1453+790_1453+792del
c.962+790_962+792del
c.316+1329_316+1331del (n.316+1329_316+1331del)
c.514+1329_514+1331del (n.514+1329_514+1331del)
c.*178_*180del (n.*178_*180del)
c.3693_3695del (p.Ser1232del)
c.3663_3665del (p.Ser1222del)
c.3789_3791del (p.Ser1264del)
c.3078_3080del (p.Ser1027del)
c.3597+790_3597+792del (n.3597+790_3597+792del)
c.3547+1329_3547+1331del (n.3547+1329_3547+1331del)
c.3015_3017del (p.Ser1006del)
c.2982_2984del (p.Ser995del)
c.3195_3197del (p.Ser1066del)
 gnomAD v4
Xg.53234992A>CCA413141414IQSEC2c.3853T>G (p.Ser1285Ala)
c.1453+791T>G
c.962+791T>G
c.316+1330T>G (n.316+1330T>G)
c.514+1330T>G (n.514+1330T>G)
c.*179T>G (n.*179T>G)
c.3694T>G (p.Ser1232Ala)
c.3664T>G (p.Ser1222Ala)
c.3790T>G (p.Ser1264Ala)
c.3079T>G (p.Ser1027Ala)
c.3597+791T>G (n.3597+791T>G)
c.3547+1330T>G (n.3547+1330T>G)
c.3016T>G (p.Ser1006Ala)
c.2983T>G (p.Ser995Ala)
c.3196T>G (p.Ser1066Ala)
Xg.53234992A>GCA413141416IQSEC2c.3853T>C (p.Ser1285Pro)
c.1453+791T>C
c.962+791T>C
c.316+1330T>C (n.316+1330T>C)
c.514+1330T>C (n.514+1330T>C)
c.*179T>C (n.*179T>C)
c.3694T>C (p.Ser1232Pro)
c.3664T>C (p.Ser1222Pro)
c.3790T>C (p.Ser1264Pro)
c.3079T>C (p.Ser1027Pro)
c.3597+791T>C (n.3597+791T>C)
c.3547+1330T>C (n.3547+1330T>C)
c.3016T>C (p.Ser1006Pro)
c.2983T>C (p.Ser995Pro)
c.3196T>C (p.Ser1066Pro)
Xg.53234992A>TCA413141421IQSEC2c.3853T>A (p.Ser1285Thr)
c.1453+791T>A
c.962+791T>A
c.316+1330T>A (n.316+1330T>A)
c.514+1330T>A (n.514+1330T>A)
c.*179T>A (n.*179T>A)
c.3694T>A (p.Ser1232Thr)
c.3664T>A (p.Ser1222Thr)
c.3790T>A (p.Ser1264Thr)
c.3079T>A (p.Ser1027Thr)
c.3597+791T>A (n.3597+791T>A)
c.3547+1330T>A (n.3547+1330T>A)
c.3016T>A (p.Ser1006Thr)
c.2983T>A (p.Ser995Thr)
c.3196T>A (p.Ser1066Thr)
Xg.53234993G>ACA329162188IQSEC2c.3852C>T (p.Ser1284=)
c.1453+790C>T
c.962+790C>T
c.316+1329C>T (n.316+1329C>T)
c.514+1329C>T (n.514+1329C>T)
c.*178C>T (n.*178C>T)
c.3693C>T (p.Ser1231=)
c.3663C>T (p.Ser1221=)
c.3789C>T (p.Ser1263=)
c.3078C>T (p.Ser1026=)
c.3597+790C>T (n.3597+790C>T)
c.3547+1329C>T (n.3547+1329C>T)
c.3015C>T (p.Ser1005=)
c.2982C>T (p.Ser994=)
c.3195C>T (p.Ser1065=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53234993G>CCA516673739IQSEC2c.3852C>G (p.Ser1284=)
c.1453+790C>G
c.962+790C>G
c.316+1329C>G (n.316+1329C>G)
c.514+1329C>G (n.514+1329C>G)
c.*178C>G (n.*178C>G)
c.3693C>G (p.Ser1231=)
c.3663C>G (p.Ser1221=)
c.3789C>G (p.Ser1263=)
c.3078C>G (p.Ser1026=)
c.3597+790C>G (n.3597+790C>G)
c.3547+1329C>G (n.3547+1329C>G)
c.3015C>G (p.Ser1005=)
c.2982C>G (p.Ser994=)
c.3195C>G (p.Ser1065=)
Xg.53234993G=CA2429770663IQSEC2c.3852C= (p.Ser1284=)
c.1453+790C=
c.962+790C=
c.316+1329C= (n.316+1329C=)
c.514+1329C= (n.514+1329C=)
c.*178C= (n.*178C=)
c.3693C= (p.Ser1231=)
c.3663C= (p.Ser1221=)
c.3789C= (p.Ser1263=)
c.3078C= (p.Ser1026=)
c.3597+790C= (n.3597+790C=)
c.3547+1329C= (n.3547+1329C=)
c.3015C= (p.Ser1005=)
c.2982C= (p.Ser994=)
c.3195C= (p.Ser1065=)
Xg.53234993G>TCA516673740IQSEC2c.3852C>A (p.Ser1284=)
c.1453+790C>A
c.962+790C>A
c.316+1329C>A (n.316+1329C>A)
c.514+1329C>A (n.514+1329C>A)
c.*178C>A (n.*178C>A)
c.3693C>A (p.Ser1231=)
c.3663C>A (p.Ser1221=)
c.3789C>A (p.Ser1263=)
c.3078C>A (p.Ser1026=)
c.3597+790C>A (n.3597+790C>A)
c.3547+1329C>A (n.3547+1329C>A)
c.3015C>A (p.Ser1005=)
c.2982C>A (p.Ser994=)
c.3195C>A (p.Ser1065=)
Xg.53234994G>ACA413141428IQSEC2c.3851C>T (p.Ser1284Phe)
c.1453+789C>T
c.962+789C>T
c.316+1328C>T (n.316+1328C>T)
c.514+1328C>T (n.514+1328C>T)
c.*177C>T (n.*177C>T)
c.3692C>T (p.Ser1231Phe)
c.3662C>T (p.Ser1221Phe)
c.3788C>T (p.Ser1263Phe)
c.3077C>T (p.Ser1026Phe)
c.3597+789C>T (n.3597+789C>T)
c.3547+1328C>T (n.3547+1328C>T)
c.3014C>T (p.Ser1005Phe)
c.2981C>T (p.Ser994Phe)
c.3194C>T (p.Ser1065Phe)
Xg.53234994G>CCA413141431IQSEC2c.3851C>G (p.Ser1284Cys)
c.1453+789C>G
c.962+789C>G
c.316+1328C>G (n.316+1328C>G)
c.514+1328C>G (n.514+1328C>G)
c.*177C>G (n.*177C>G)
c.3692C>G (p.Ser1231Cys)
c.3662C>G (p.Ser1221Cys)
c.3788C>G (p.Ser1263Cys)
c.3077C>G (p.Ser1026Cys)
c.3597+789C>G (n.3597+789C>G)
c.3547+1328C>G (n.3547+1328C>G)
c.3014C>G (p.Ser1005Cys)
c.2981C>G (p.Ser994Cys)
c.3194C>G (p.Ser1065Cys)
Xg.53234994G>TCA413141432IQSEC2c.3851C>A (p.Ser1284Tyr)
c.1453+789C>A
c.962+789C>A
c.316+1328C>A (n.316+1328C>A)
c.514+1328C>A (n.514+1328C>A)
c.*177C>A (n.*177C>A)
c.3692C>A (p.Ser1231Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3788C>A (p.Ser1263Tyr)
c.3077C>A (p.Ser1026Tyr)
c.3597+789C>A (n.3597+789C>A)
c.3547+1328C>A (n.3547+1328C>A)
c.3014C>A (p.Ser1005Tyr)
c.2981C>A (p.Ser994Tyr)
c.3194C>A (p.Ser1065Tyr)
Xg.53234995A>CCA413141442IQSEC2c.3850T>G (p.Ser1284Ala)
c.1453+788T>G
c.962+788T>G
c.316+1327T>G (n.316+1327T>G)
c.514+1327T>G (n.514+1327T>G)
c.*176T>G (n.*176T>G)
c.3691T>G (p.Ser1231Ala)
c.3661T>G (p.Ser1221Ala)
c.3787T>G (p.Ser1263Ala)
c.3076T>G (p.Ser1026Ala)
c.3597+788T>G (n.3597+788T>G)
c.3547+1327T>G (n.3547+1327T>G)
c.3013T>G (p.Ser1005Ala)
c.2980T>G (p.Ser994Ala)
c.3193T>G (p.Ser1065Ala)
Xg.53234995A>GCA413141440IQSEC2c.3850T>C (p.Ser1284Pro)
c.1453+788T>C
c.962+788T>C
c.316+1327T>C (n.316+1327T>C)
c.514+1327T>C (n.514+1327T>C)
c.*176T>C (n.*176T>C)
c.3691T>C (p.Ser1231Pro)
c.3661T>C (p.Ser1221Pro)
c.3787T>C (p.Ser1263Pro)
c.3076T>C (p.Ser1026Pro)
c.3597+788T>C (n.3597+788T>C)
c.3547+1327T>C (n.3547+1327T>C)
c.3013T>C (p.Ser1005Pro)
c.2980T>C (p.Ser994Pro)
c.3193T>C (p.Ser1065Pro)
Xg.53234995A>TCA413141437IQSEC2c.3850T>A (p.Ser1284Thr)
c.1453+788T>A
c.962+788T>A
c.316+1327T>A (n.316+1327T>A)
c.514+1327T>A (n.514+1327T>A)
c.*176T>A (n.*176T>A)
c.3691T>A (p.Ser1231Thr)
c.3661T>A (p.Ser1221Thr)
c.3787T>A (p.Ser1263Thr)
c.3076T>A (p.Ser1026Thr)
c.3597+788T>A (n.3597+788T>A)
c.3547+1327T>A (n.3547+1327T>A)
c.3013T>A (p.Ser1005Thr)
c.2980T>A (p.Ser994Thr)
c.3193T>A (p.Ser1065Thr)
Xg.53234996G>ACA516673742IQSEC2c.3849C>T (p.Ala1283=)
c.1453+787C>T
c.962+787C>T
c.316+1326C>T (n.316+1326C>T)
c.514+1326C>T (n.514+1326C>T)
c.*175C>T (n.*175C>T)
c.3690C>T (p.Ala1230=)
c.3660C>T (p.Ala1220=)
c.3786C>T (p.Ala1262=)
c.3075C>T (p.Ala1025=)
c.3597+787C>T (n.3597+787C>T)
c.3547+1326C>T (n.3547+1326C>T)
c.3012C>T (p.Ala1004=)
c.2979C>T (p.Ala993=)
c.3192C>T (p.Ala1064=)
Xg.53234996G>CCA516673744IQSEC2c.3849C>G (p.Ala1283=)
c.1453+787C>G
c.962+787C>G
c.316+1326C>G (n.316+1326C>G)
c.514+1326C>G (n.514+1326C>G)
c.*175C>G (n.*175C>G)
c.3690C>G (p.Ala1230=)
c.3660C>G (p.Ala1220=)
c.3786C>G (p.Ala1262=)
c.3075C>G (p.Ala1025=)
c.3597+787C>G (n.3597+787C>G)
c.3547+1326C>G (n.3547+1326C>G)
c.3012C>G (p.Ala1004=)
c.2979C>G (p.Ala993=)
c.3192C>G (p.Ala1064=)
Xg.53234996G>TCA516673743IQSEC2c.3849C>A (p.Ala1283=)
c.1453+787C>A
c.962+787C>A
c.316+1326C>A (n.316+1326C>A)
c.514+1326C>A (n.514+1326C>A)
c.*175C>A (n.*175C>A)
c.3690C>A (p.Ala1230=)
c.3660C>A (p.Ala1220=)
c.3786C>A (p.Ala1262=)
c.3075C>A (p.Ala1025=)
c.3597+787C>A (n.3597+787C>A)
c.3547+1326C>A (n.3547+1326C>A)
c.3012C>A (p.Ala1004=)
c.2979C>A (p.Ala993=)
c.3192C>A (p.Ala1064=)
Xg.53234997G>ACA413141446IQSEC2c.3848C>T (p.Ala1283Val)
c.1453+786C>T
c.962+786C>T
c.316+1325C>T (n.316+1325C>T)
c.514+1325C>T (n.514+1325C>T)
c.*174C>T (n.*174C>T)
c.3689C>T (p.Ala1230Val)
c.3659C>T (p.Ala1220Val)
c.3785C>T (p.Ala1262Val)
c.3074C>T (p.Ala1025Val)
c.3597+786C>T (n.3597+786C>T)
c.3547+1325C>T (n.3547+1325C>T)
c.3011C>T (p.Ala1004Val)
c.2978C>T (p.Ala993Val)
c.3191C>T (p.Ala1064Val)
 gnomAD v4
Xg.53234997G>CCA413141447IQSEC2c.3848C>G (p.Ala1283Gly)
c.1453+786C>G
c.962+786C>G
c.316+1325C>G (n.316+1325C>G)
c.514+1325C>G (n.514+1325C>G)
c.*174C>G (n.*174C>G)
c.3689C>G (p.Ala1230Gly)
c.3659C>G (p.Ala1220Gly)
c.3785C>G (p.Ala1262Gly)
c.3074C>G (p.Ala1025Gly)
c.3597+786C>G (n.3597+786C>G)
c.3547+1325C>G (n.3547+1325C>G)
c.3011C>G (p.Ala1004Gly)
c.2978C>G (p.Ala993Gly)
c.3191C>G (p.Ala1064Gly)
Xg.53234997G>TCA413141450IQSEC2c.3848C>A (p.Ala1283Asp)
c.1453+786C>A
c.962+786C>A
c.316+1325C>A (n.316+1325C>A)
c.514+1325C>A (n.514+1325C>A)
c.*174C>A (n.*174C>A)
c.3689C>A (p.Ala1230Asp)
c.3659C>A (p.Ala1220Asp)
c.3785C>A (p.Ala1262Asp)
c.3074C>A (p.Ala1025Asp)
c.3597+786C>A (n.3597+786C>A)
c.3547+1325C>A (n.3547+1325C>A)
c.3011C>A (p.Ala1004Asp)
c.2978C>A (p.Ala993Asp)
c.3191C>A (p.Ala1064Asp)
Xg.53234998C>ACA413141453IQSEC2c.3847G>T (p.Ala1283Ser)
c.1453+785G>T
c.962+785G>T
c.316+1324G>T (n.316+1324G>T)
c.514+1324G>T (n.514+1324G>T)
c.*173G>T (n.*173G>T)
c.3688G>T (p.Ala1230Ser)
c.3658G>T (p.Ala1220Ser)
c.3784G>T (p.Ala1262Ser)
c.3073G>T (p.Ala1025Ser)
c.3597+785G>T (n.3597+785G>T)
c.3547+1324G>T (n.3547+1324G>T)
c.3010G>T (p.Ala1004Ser)
c.2977G>T (p.Ala993Ser)
c.3190G>T (p.Ala1064Ser)
 dbSNP gnomAD v4
Xg.53234998C=CA2429770664IQSEC2c.3847G= (p.Ala1283=)
c.1453+785G=
c.962+785G=
c.316+1324G= (n.316+1324G=)
c.514+1324G= (n.514+1324G=)
c.*173G= (n.*173G=)
c.3688G= (p.Ala1230=)
c.3658G= (p.Ala1220=)
c.3784G= (p.Ala1262=)
c.3073G= (p.Ala1025=)
c.3597+785G= (n.3597+785G=)
c.3547+1324G= (n.3547+1324G=)
c.3010G= (p.Ala1004=)
c.2977G= (p.Ala993=)
c.3190G= (p.Ala1064=)
Xg.53234998C>GCA413141456IQSEC2c.3847G>C (p.Ala1283Pro)
c.1453+785G>C
c.962+785G>C
c.316+1324G>C (n.316+1324G>C)
c.514+1324G>C (n.514+1324G>C)
c.*173G>C (n.*173G>C)
c.3688G>C (p.Ala1230Pro)
c.3658G>C (p.Ala1220Pro)
c.3784G>C (p.Ala1262Pro)
c.3073G>C (p.Ala1025Pro)
c.3597+785G>C (n.3597+785G>C)
c.3547+1324G>C (n.3547+1324G>C)
c.3010G>C (p.Ala1004Pro)
c.2977G>C (p.Ala993Pro)
c.3190G>C (p.Ala1064Pro)
Xg.53234998C>TCA413141458IQSEC2c.3847G>A (p.Ala1283Thr)
c.1453+785G>A
c.962+785G>A
c.316+1324G>A (n.316+1324G>A)
c.514+1324G>A (n.514+1324G>A)
c.*173G>A (n.*173G>A)
c.3688G>A (p.Ala1230Thr)
c.3658G>A (p.Ala1220Thr)
c.3784G>A (p.Ala1262Thr)
c.3073G>A (p.Ala1025Thr)
c.3597+785G>A (n.3597+785G>A)
c.3547+1324G>A (n.3547+1324G>A)
c.3010G>A (p.Ala1004Thr)
c.2977G>A (p.Ala993Thr)
c.3190G>A (p.Ala1064Thr)
Xg.53234999A=CA2429770665IQSEC2c.3846T= (p.Ser1282=)
c.1453+784T=
c.962+784T=
c.316+1323T= (n.316+1323T=)
c.514+1323T= (n.514+1323T=)
c.*172T= (n.*172T=)
c.3687T= (p.Ser1229=)
c.3657T= (p.Ser1219=)
c.3783T= (p.Ser1261=)
c.3072T= (p.Ser1024=)
c.3597+784T= (n.3597+784T=)
c.3547+1323T= (n.3547+1323T=)
c.3009T= (p.Ser1003=)
c.2976T= (p.Ser992=)
c.3189T= (p.Ser1063=)
Xg.53234999A>CCA516673748IQSEC2c.3846T>G (p.Ser1282=)
c.1453+784T>G
c.962+784T>G
c.316+1323T>G (n.316+1323T>G)
c.514+1323T>G (n.514+1323T>G)
c.*172T>G (n.*172T>G)
c.3687T>G (p.Ser1229=)
c.3657T>G (p.Ser1219=)
c.3783T>G (p.Ser1261=)
c.3072T>G (p.Ser1024=)
c.3597+784T>G (n.3597+784T>G)
c.3547+1323T>G (n.3547+1323T>G)
c.3009T>G (p.Ser1003=)
c.2976T>G (p.Ser992=)
c.3189T>G (p.Ser1063=)
Xg.53234999A>GCA516673749IQSEC2c.3846T>C (p.Ser1282=)
c.1453+784T>C
c.962+784T>C
c.316+1323T>C (n.316+1323T>C)
c.514+1323T>C (n.514+1323T>C)
c.*172T>C (n.*172T>C)
c.3687T>C (p.Ser1229=)
c.3657T>C (p.Ser1219=)
c.3783T>C (p.Ser1261=)
c.3072T>C (p.Ser1024=)
c.3597+784T>C (n.3597+784T>C)
c.3547+1323T>C (n.3547+1323T>C)
c.3009T>C (p.Ser1003=)
c.2976T>C (p.Ser992=)
c.3189T>C (p.Ser1063=)
 dbSNP gnomAD v4
Xg.53234999A>TCA516673750IQSEC2c.3846T>A (p.Ser1282=)
c.1453+784T>A
c.962+784T>A
c.316+1323T>A (n.316+1323T>A)
c.514+1323T>A (n.514+1323T>A)
c.*172T>A (n.*172T>A)
c.3687T>A (p.Ser1229=)
c.3657T>A (p.Ser1219=)
c.3783T>A (p.Ser1261=)
c.3072T>A (p.Ser1024=)
c.3597+784T>A (n.3597+784T>A)
c.3547+1323T>A (n.3547+1323T>A)
c.3009T>A (p.Ser1003=)
c.2976T>A (p.Ser992=)
c.3189T>A (p.Ser1063=)
 ClinVar dbSNP
Xg.53235000G>ACA413141461IQSEC2c.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)
Xg.53235000G>CCA413141463IQSEC2c.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
Xg.53235000G=CA2429770666IQSEC2c.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=)
Xg.53235000G>TCA413141465IQSEC2c.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)
Xg.53235001A>CCA413141470IQSEC2c.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)
Xg.53235001A>GCA413141473IQSEC2c.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)
Xg.53235001A>TCA413141475IQSEC2c.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)
Xg.53235002G>ACA516673757IQSEC2c.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=)
Xg.53235002G>CCA516673758IQSEC2c.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=)
Xg.53235002G>TCA516673759IQSEC2c.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=)
Xg.53235008_53235012delCA2579614716IQSEC2c.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)
Xg.53235003G>ACA413141484IQSEC2c.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
Xg.53235003G>CCA413141487IQSEC2c.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)
Xg.53235003G>TCA413141481IQSEC2c.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)
Xg.53235004C>ACA413141491IQSEC2c.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
Xg.53235004C=CA2429770667IQSEC2c.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=)
Xg.53235004C>GCA413141494IQSEC2c.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
Xg.53235004C>TCA413141498IQSEC2c.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)
Xg.53235005C>ACA413141502IQSEC2c.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)
Xg.53235005C=CA2429770668IQSEC2c.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=)
Xg.53235005C>GCA413141504IQSEC2c.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)
Xg.53235005C>TCA516673766IQSEC2c.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

Number of alleles fetched