Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53234897_53235077del | CA2499226779 | IQSEC2 | c.3770_3950del (p.Phe1257SerfsTer?) c.1453+708_1453+888del c.962+708_962+888del c.316+1247_316+1427del (n.316+1247_316+1427del) c.514+1247_514+1427del (n.514+1247_514+1427del) c.*96_*276del (n.*96_*276del) c.3611_3791del (p.Phe1204SerfsTer?) c.3581_3761del (p.Phe1194SerfsTer?) c.3707_3887del (p.Phe1236SerfsTer?) c.2996_3176del (p.Phe999SerfsTer?) c.3597+708_3597+888del (n.3597+708_3597+888del) c.3547+1247_3547+1427del (n.3547+1247_3547+1427del) c.2933_3113del (p.Phe978SerfsTer?) c.2900_3080del (p.Phe967SerfsTer?) c.3113_3293del (p.Phe1038SerfsTer?) | ClinVar dbSNP |
X | g.53234901G>A | CA413140869 | IQSEC2 | c.3944C>T (p.Ser1315Phe) c.1453+882C>T c.962+882C>T c.316+1421C>T (n.316+1421C>T) c.514+1421C>T (n.514+1421C>T) c.*270C>T (n.*270C>T) c.3785C>T (p.Ser1262Phe) c.3755C>T (p.Ser1252Phe) c.3881C>T (p.Ser1294Phe) c.3170C>T (p.Ser1057Phe) c.3597+882C>T (n.3597+882C>T) c.3547+1421C>T (n.3547+1421C>T) c.3107C>T (p.Ser1036Phe) c.3074C>T (p.Ser1025Phe) c.3287C>T (p.Ser1096Phe) | |
X | g.53234901G>C | CA413140871 | IQSEC2 | c.3944C>G (p.Ser1315Cys) c.1453+882C>G c.962+882C>G c.316+1421C>G (n.316+1421C>G) c.514+1421C>G (n.514+1421C>G) c.*270C>G (n.*270C>G) c.3785C>G (p.Ser1262Cys) c.3755C>G (p.Ser1252Cys) c.3881C>G (p.Ser1294Cys) c.3170C>G (p.Ser1057Cys) c.3597+882C>G (n.3597+882C>G) c.3547+1421C>G (n.3547+1421C>G) c.3107C>G (p.Ser1036Cys) c.3074C>G (p.Ser1025Cys) c.3287C>G (p.Ser1096Cys) | |
X | g.53234901G>T | CA413140873 | IQSEC2 | c.3944C>A (p.Ser1315Tyr) c.1453+882C>A c.962+882C>A c.316+1421C>A (n.316+1421C>A) c.514+1421C>A (n.514+1421C>A) c.*270C>A (n.*270C>A) c.3785C>A (p.Ser1262Tyr) c.3755C>A (p.Ser1252Tyr) c.3881C>A (p.Ser1294Tyr) c.3170C>A (p.Ser1057Tyr) c.3597+882C>A (n.3597+882C>A) c.3547+1421C>A (n.3547+1421C>A) c.3107C>A (p.Ser1036Tyr) c.3074C>A (p.Ser1025Tyr) c.3287C>A (p.Ser1096Tyr) | gnomAD v4 |
X | g.53234902A= | CA2429770631 | IQSEC2 | c.3943T= (p.Ser1315=) c.1453+881T= c.962+881T= c.316+1420T= (n.316+1420T=) c.514+1420T= (n.514+1420T=) c.*269T= (n.*269T=) c.3784T= (p.Ser1262=) c.3754T= (p.Ser1252=) c.3880T= (p.Ser1294=) c.3169T= (p.Ser1057=) c.3597+881T= (n.3597+881T=) c.3547+1420T= (n.3547+1420T=) c.3106T= (p.Ser1036=) c.3073T= (p.Ser1025=) c.3286T= (p.Ser1096=) | |
X | g.53234902A>C | CA413140876 | IQSEC2 | c.3943T>G (p.Ser1315Ala) c.1453+881T>G c.962+881T>G c.316+1420T>G (n.316+1420T>G) c.514+1420T>G (n.514+1420T>G) c.*269T>G (n.*269T>G) c.3784T>G (p.Ser1262Ala) c.3754T>G (p.Ser1252Ala) c.3880T>G (p.Ser1294Ala) c.3169T>G (p.Ser1057Ala) c.3597+881T>G (n.3597+881T>G) c.3547+1420T>G (n.3547+1420T>G) c.3106T>G (p.Ser1036Ala) c.3073T>G (p.Ser1025Ala) c.3286T>G (p.Ser1096Ala) | |
X | g.53234902A>G | CA413140879 | IQSEC2 | c.3943T>C (p.Ser1315Pro) c.1453+881T>C c.962+881T>C c.316+1420T>C (n.316+1420T>C) c.514+1420T>C (n.514+1420T>C) c.*269T>C (n.*269T>C) c.3784T>C (p.Ser1262Pro) c.3754T>C (p.Ser1252Pro) c.3880T>C (p.Ser1294Pro) c.3169T>C (p.Ser1057Pro) c.3597+881T>C (n.3597+881T>C) c.3547+1420T>C (n.3547+1420T>C) c.3106T>C (p.Ser1036Pro) c.3073T>C (p.Ser1025Pro) c.3286T>C (p.Ser1096Pro) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53234902A>T | CA413140881 | IQSEC2 | c.3943T>A (p.Ser1315Thr) c.1453+881T>A c.962+881T>A c.316+1420T>A (n.316+1420T>A) c.514+1420T>A (n.514+1420T>A) c.*269T>A (n.*269T>A) c.3784T>A (p.Ser1262Thr) c.3754T>A (p.Ser1252Thr) c.3880T>A (p.Ser1294Thr) c.3169T>A (p.Ser1057Thr) c.3597+881T>A (n.3597+881T>A) c.3547+1420T>A (n.3547+1420T>A) c.3106T>A (p.Ser1036Thr) c.3073T>A (p.Ser1025Thr) c.3286T>A (p.Ser1096Thr) | |
X | g.53234903C>A | CA413140884 | IQSEC2 | c.3942G>T (p.Gln1314His) c.1453+880G>T c.962+880G>T c.316+1419G>T (n.316+1419G>T) c.514+1419G>T (n.514+1419G>T) c.*268G>T (n.*268G>T) c.3783G>T (p.Gln1261His) c.3753G>T (p.Gln1251His) c.3879G>T (p.Gln1293His) c.3168G>T (p.Gln1056His) c.3597+880G>T (n.3597+880G>T) c.3547+1419G>T (n.3547+1419G>T) c.3105G>T (p.Gln1035His) c.3072G>T (p.Gln1024His) c.3285G>T (p.Gln1095His) | |
X | g.53234903C>G | CA413140887 | IQSEC2 | c.3942G>C (p.Gln1314His) c.1453+880G>C c.962+880G>C c.316+1419G>C (n.316+1419G>C) c.514+1419G>C (n.514+1419G>C) c.*268G>C (n.*268G>C) c.3783G>C (p.Gln1261His) c.3753G>C (p.Gln1251His) c.3879G>C (p.Gln1293His) c.3168G>C (p.Gln1056His) c.3597+880G>C (n.3597+880G>C) c.3547+1419G>C (n.3547+1419G>C) c.3105G>C (p.Gln1035His) c.3072G>C (p.Gln1024His) c.3285G>C (p.Gln1095His) | |
X | g.53234903C>T | CA516673565 | IQSEC2 | c.3942G>A (p.Gln1314=) c.1453+880G>A c.962+880G>A c.316+1419G>A (n.316+1419G>A) c.514+1419G>A (n.514+1419G>A) c.*268G>A (n.*268G>A) c.3783G>A (p.Gln1261=) c.3753G>A (p.Gln1251=) c.3879G>A (p.Gln1293=) c.3168G>A (p.Gln1056=) c.3597+880G>A (n.3597+880G>A) c.3547+1419G>A (n.3547+1419G>A) c.3105G>A (p.Gln1035=) c.3072G>A (p.Gln1024=) c.3285G>A (p.Gln1095=) | |
X | g.53234904T>A | CA413140893 | IQSEC2 | c.3941A>T (p.Gln1314Leu) c.1453+879A>T c.962+879A>T c.316+1418A>T (n.316+1418A>T) c.514+1418A>T (n.514+1418A>T) c.*267A>T (n.*267A>T) c.3782A>T (p.Gln1261Leu) c.3752A>T (p.Gln1251Leu) c.3878A>T (p.Gln1293Leu) c.3167A>T (p.Gln1056Leu) c.3597+879A>T (n.3597+879A>T) c.3547+1418A>T (n.3547+1418A>T) c.3104A>T (p.Gln1035Leu) c.3071A>T (p.Gln1024Leu) c.3284A>T (p.Gln1095Leu) | |
X | g.53234904T>C | CA413140896 | IQSEC2 | c.3941A>G (p.Gln1314Arg) c.1453+879A>G c.962+879A>G c.316+1418A>G (n.316+1418A>G) c.514+1418A>G (n.514+1418A>G) c.*267A>G (n.*267A>G) c.3782A>G (p.Gln1261Arg) c.3752A>G (p.Gln1251Arg) c.3878A>G (p.Gln1293Arg) c.3167A>G (p.Gln1056Arg) c.3597+879A>G (n.3597+879A>G) c.3547+1418A>G (n.3547+1418A>G) c.3104A>G (p.Gln1035Arg) c.3071A>G (p.Gln1024Arg) c.3284A>G (p.Gln1095Arg) | |
X | g.53234904T>G | CA413140891 | IQSEC2 | c.3941A>C (p.Gln1314Pro) c.1453+879A>C c.962+879A>C c.316+1418A>C (n.316+1418A>C) c.514+1418A>C (n.514+1418A>C) c.*267A>C (n.*267A>C) c.3782A>C (p.Gln1261Pro) c.3752A>C (p.Gln1251Pro) c.3878A>C (p.Gln1293Pro) c.3167A>C (p.Gln1056Pro) c.3597+879A>C (n.3597+879A>C) c.3547+1418A>C (n.3547+1418A>C) c.3104A>C (p.Gln1035Pro) c.3071A>C (p.Gln1024Pro) c.3284A>C (p.Gln1095Pro) | |
X | g.53234905G>A | CA413140905 | IQSEC2 | c.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 |
X | g.53234905G>C | CA413140899 | IQSEC2 | c.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) | |
X | g.53234905G>T | CA413140902 | IQSEC2 | c.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) | |
X | g.53234906C>A | CA516673569 | IQSEC2 | c.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=) | |
X | g.53234906C>G | CA516673571 | IQSEC2 | c.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=) | |
X | g.53234906C>T | CA516673574 | IQSEC2 | c.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 |
X | g.53234908del | CA2695234288 | IQSEC2 | c.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?) | |
X | g.53234907C>A | CA413140907 | IQSEC2 | c.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) | |
X | g.53234907C>G | CA413140910 | IQSEC2 | c.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) | |
X | g.53234907C>T | CA413140913 | IQSEC2 | c.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) | |
X | g.53234908C>A | CA413140916 | IQSEC2 | c.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) | |
X | g.53234908C= | CA2429770632 | IQSEC2 | c.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=) | |
X | g.53234908C>G | CA413140918 | IQSEC2 | c.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) | |
X | g.53234908C>T | CA413140922 | IQSEC2 | c.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 |
X | g.53234909A= | CA2429770633 | IQSEC2 | c.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=) | |
X | g.53234909A>C | CA413140924 | IQSEC2 | c.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) | |
X | g.53234909A>G | CA516673577 | IQSEC2 | c.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 |
X | g.53234909A>T | CA413140927 | IQSEC2 | c.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) | |
X | g.53234910T>A | CA413140930 | IQSEC2 | c.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) | |
X | g.53234910T>C | CA413140932 | IQSEC2 | c.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 |
X | g.53234910T>G | CA413140934 | IQSEC2 | c.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) | |
X | g.53234910T= | CA2429770634 | IQSEC2 | c.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=) | |
X | g.53234911C>A | CA413140943 | IQSEC2 | c.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) | |
X | g.53234911C= | CA2429770635 | IQSEC2 | c.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=) | |
X | g.53234911C>G | CA413140938 | IQSEC2 | c.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 |
X | g.53234911C>T | CA413140940 | IQSEC2 | c.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 |
X | g.53234912A>C | CA516673584 | IQSEC2 | c.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=) | |
X | g.53234912A>G | CA516673586 | IQSEC2 | c.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 |
X | g.53234912A>T | CA516673585 | IQSEC2 | c.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=) | |
X | g.53234913G>A | CA413140950 | IQSEC2 | c.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) | |
X | g.53234913G>C | CA413140951 | IQSEC2 | c.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) | |
X | g.53234913G>T | CA413140952 | IQSEC2 | c.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 |
X | g.53234914G>A | CA413140953 | IQSEC2 | c.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) | |
X | g.53234914G>C | CA413140955 | IQSEC2 | c.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) | |
X | g.53234914G>T | CA413140956 | IQSEC2 | c.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) | |
X | g.53234915C>A | CA516673590 | IQSEC2 | c.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=) | |
X | g.53234915C= | CA2429770636 | IQSEC2 | c.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=) | |
X | g.53234915C>G | CA516673591 | IQSEC2 | c.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 |
X | g.53234915C>T | CA516673593 | IQSEC2 | c.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=) | |
X | g.53234916A>C | CA413140958 | IQSEC2 | c.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) | |
X | g.53234916A>G | CA413140962 | IQSEC2 | c.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) | |
X | g.53234916A>T | CA413140964 | IQSEC2 | c.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) | |
X | g.53234917G>A | CA516673595 | IQSEC2 | c.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 |
X | g.53234917G>C | CA413140966 | IQSEC2 | c.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) | |
X | g.53234917G= | CA2429770637 | IQSEC2 | c.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=) | |
X | g.53234917G>T | CA413140968 | IQSEC2 | c.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 |
X | g.53234918C>A | CA516673599 | IQSEC2 | c.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=) | |
X | g.53234918C>G | CA516673600 | IQSEC2 | c.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=) | |
X | g.53234918C>T | CA516673601 | IQSEC2 | c.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=) | |
X | g.53234919A>C | CA413140973 | IQSEC2 | c.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) | |
X | g.53234919A>G | CA413140971 | IQSEC2 | c.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) | |
X | g.53234919A>T | CA413140970 | IQSEC2 | c.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 |
X | g.53234920C>A | CA413140974 | IQSEC2 | c.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) | |
X | g.53234920C= | CA2429770638 | IQSEC2 | c.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=) | |
X | g.53234920C>G | CA413140976 | IQSEC2 | c.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) | |
X | g.53234920C>T | CA413140978 | IQSEC2 | c.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 |
X | g.53234924dup | CA2820950188 | IQSEC2 | c.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) | |
X | g.53234924del | CA2693794292 | IQSEC2 | c.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 |
X | g.53234921C>A | CA516673605 | IQSEC2 | c.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=) | |
X | g.53234921C>G | CA516673607 | IQSEC2 | c.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=) | |
X | g.53234921C>T | CA516673610 | IQSEC2 | c.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=) | |
X | g.53234922C>A | CA413140980 | IQSEC2 | c.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) | |
X | g.53234922C>G | CA413140981 | IQSEC2 | c.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) | |
X | g.53234922C>T | CA413140983 | IQSEC2 | c.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) | |
X | g.53234923C>A | CA413140991 | IQSEC2 | c.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) | |
X | g.53234923C>G | CA413140987 | IQSEC2 | c.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) | |
X | g.53234923C>T | CA413140989 | IQSEC2 | c.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) | |
X | g.53234924C>A | CA516673613 | IQSEC2 | c.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 |
X | g.53234924C>G | CA516673614 | IQSEC2 | c.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=) | |
X | g.53234924C>T | CA516673615 | IQSEC2 | c.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=) | |
X | g.53234925A>C | CA413140994 | IQSEC2 | c.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) | |
X | g.53234925A>G | CA413140997 | IQSEC2 | c.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) | |
X | g.53234925A>T | CA413140999 | IQSEC2 | c.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) | |
X | g.53234926G>A | CA516673619 | IQSEC2 | c.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=) | |
X | g.53234926G>C | CA413141002 | IQSEC2 | c.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) | |
X | g.53234926G>T | CA413141005 | IQSEC2 | c.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) | |
X | g.53234927G>A | CA329162109 | IQSEC2 | c.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 |
X | g.53234927G>C | CA516673620 | IQSEC2 | c.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=) | |
X | g.53234927G= | CA2429770639 | IQSEC2 | c.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=) | |
X | g.53234927G>T | CA516673622 | IQSEC2 | c.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=) | |
X | g.53234928C>A | CA413141008 | IQSEC2 | c.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 |
X | g.53234928C>G | CA413141013 | IQSEC2 | c.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) | |
X | g.53234928C>T | CA413141010 | IQSEC2 | c.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) | |
X | g.53234929C>A | CA413141016 | IQSEC2 | c.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) | |
X | g.53234929C>G | CA413141019 | IQSEC2 | c.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) | |
X | g.53234929C>T | CA413141021 | IQSEC2 | c.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) | |
X | g.53234930A>C | CA516673627 | IQSEC2 | c.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=) | |
X | g.53234930A>G | CA516673628 | IQSEC2 | c.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=) | |
X | g.53234930A>T | CA516673629 | IQSEC2 | c.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=) | |
X | g.53234931C>A | CA413141023 | IQSEC2 | c.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) | |
X | g.53234931C>G | CA413141025 | IQSEC2 | c.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) | |
X | g.53234931C>T | CA413141027 | IQSEC2 | c.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) | |
X | g.53234932C>A | CA413141030 | IQSEC2 | c.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 |
X | g.53234932C>G | CA413141031 | IQSEC2 | c.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) | |
X | g.53234932C>T | CA413141033 | IQSEC2 | c.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 |
X | g.53234933G>A | CA10419775 | IQSEC2 | c.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 |
X | g.53234933G>C | CA413141036 | IQSEC2 | c.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) | |
X | g.53234933G= | CA2429770640 | IQSEC2 | c.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=) | |
X | g.53234933G>T | CA413141040 | IQSEC2 | c.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) | |
X | g.53234934T>A | CA413141044 | IQSEC2 | c.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) | |
X | g.53234934T>C | CA413141046 | IQSEC2 | c.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) | |
X | g.53234934T>G | CA413141042 | IQSEC2 | c.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) | |
X | g.53234935G>A | CA413141053 | IQSEC2 | c.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) | |
X | g.53234935G>C | CA413141049 | IQSEC2 | c.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) | |
X | g.53234935G>T | CA413141051 | IQSEC2 | c.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 |
X | g.53234936G>A | CA516673630 | IQSEC2 | c.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=) | |
X | g.53234936G>C | CA413141055 | IQSEC2 | c.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) | |
X | g.53234936G>T | CA413141058 | IQSEC2 | c.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 |
X | g.53234937C>A | CA413141060 | IQSEC2 | c.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) | |
X | g.53234937C>G | CA413141062 | IQSEC2 | c.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) | |
X | g.53234937C>T | CA413141064 | IQSEC2 | c.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) | |
X | g.53234938T>A | CA413141067 | IQSEC2 | c.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) | |
X | g.53234938T>C | CA413141069 | IQSEC2 | c.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) | |
X | g.53234938T>G | CA413141071 | IQSEC2 | c.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) | |
X | g.53234939A= | CA2429770641 | IQSEC2 | c.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=) | |
X | g.53234939A>C | CA413141074 | IQSEC2 | c.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 |
X | g.53234939A>G | CA10419776 | IQSEC2 | c.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 |
X | g.53234939A>T | CA413141077 | IQSEC2 | c.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) | |
X | g.53234940T>A | CA413141083 | IQSEC2 | c.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) | |
X | g.53234940T>C | CA413141082 | IQSEC2 | c.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 |
X | g.53234940T>G | CA413141080 | IQSEC2 | c.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) | |
X | g.53234941G>A | CA413141086 | IQSEC2 | c.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) | |
X | g.53234941G>C | CA413141088 | IQSEC2 | c.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) | |
X | g.53234941G>T | CA413141090 | IQSEC2 | c.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) | |
X | g.53234942G>A | CA516673637 | IQSEC2 | c.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=) | |
X | g.53234942G>C | CA516673638 | IQSEC2 | c.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=) | |
X | g.53234942G>T | CA516673639 | IQSEC2 | c.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 |
X | g.53234943C>A | CA413141093 | IQSEC2 | c.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 |
X | g.53234943C= | CA2429770642 | IQSEC2 | c.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=) | |
X | g.53234943C>G | CA413141094 | IQSEC2 | c.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) | |
X | g.53234943C>T | CA413141097 | IQSEC2 | c.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 |
X | g.53234944C>A | CA413141099 | IQSEC2 | c.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) | |
X | g.53234944C>G | CA413141100 | IQSEC2 | c.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) | |
X | g.53234944C>T | CA413141102 | IQSEC2 | c.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 |
X | g.53234945A= | CA2429770643 | IQSEC2 | c.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=) | |
X | g.53234945A>C | CA413141105 | IQSEC2 | c.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) | |
X | g.53234945A>G | CA516673641 | IQSEC2 | c.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=) | |
X | g.53234945A>T | CA413141106 | IQSEC2 | c.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) | |
X | g.53234946T>A | CA413141108 | IQSEC2 | c.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) | |
X | g.53234946T>C | CA413141110 | IQSEC2 | c.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 |
X | g.53234946T>G | CA413141112 | IQSEC2 | c.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) | |
X | g.53234948_53234953dup | CA641903962 | IQSEC2 | c.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 |
X | g.53234947G>A | CA413141114 | IQSEC2 | c.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 |
X | g.53234947G>C | CA413141117 | IQSEC2 | c.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) | |
X | g.53234947G= | CA2429770644 | IQSEC2 | c.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=) | |
X | g.53234947G>T | CA413141113 | IQSEC2 | c.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 |
X | g.53234948A= | CA2429770646 | IQSEC2 | c.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=) | |
X | g.53234948A>C | CA413141120 | IQSEC2 | c.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) | |
X | g.53234948A>G | CA516673642 | IQSEC2 | c.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 |
X | g.53234948A>T | CA413141122 | IQSEC2 | c.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) | |
X | g.53234948_53234957delinsATGGTGGTGG | CA2429770645 | IQSEC2 | c.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=) | |
X | g.53234949T>A | CA413141123 | IQSEC2 | c.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) | |
X | g.53234949T>C | CA413141124 | IQSEC2 | c.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 |
X | g.53234949T>G | CA413141126 | IQSEC2 | c.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) | |
X | g.53234969_53234971dup | CA10419778 | IQSEC2 | c.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 |
X | g.53234966_53234971dup | CA641903963 | IQSEC2 | c.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 |
X | g.53234969_53234971del | CA10419777 | IQSEC2 | c.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 |
X | g.53234966_53234971del | CA2579614692 | IQSEC2 | c.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 |
X | g.53234963_53234971del | CA16621441 | IQSEC2 | c.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 |
X | g.53234949_53234950insTGG | CA645609628 | IQSEC2 | c.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 |
X | g.53234950G>A | CA413141130 | IQSEC2 | c.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 |
X | g.53234950G>C | CA413141132 | IQSEC2 | c.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) | |
X | g.53234950G>T | CA413141135 | IQSEC2 | c.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) | |
X | g.53234951G>A | CA208763 | IQSEC2 | c.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 |
X | g.53234951G>C | CA413141143 | IQSEC2 | c.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) | |
X | g.53234951G= | CA2429770647 | IQSEC2 | c.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=) | |
X | g.53234951G>T | CA413141145 | IQSEC2 | c.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) | |
X | g.53234952T>A | CA413141149 | IQSEC2 | c.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) | |
X | g.53234952T>C | CA413141154 | IQSEC2 | c.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) | |
X | g.53234952T>G | CA413141152 | IQSEC2 | c.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) | |
X | g.53234953G>A | CA413141157 | IQSEC2 | c.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) | |
X | g.53234953G>C | CA413141160 | IQSEC2 | c.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) | |
X | g.53234953G>T | CA413141163 | IQSEC2 | c.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 |
X | g.53234961_53235025del | CA2695234289 | IQSEC2 | c.3828_3892del (p.Thr1278SerfsTer4) c.1453+766_1453+830del c.962+766_962+830del c.316+1305_316+1369del (n.316+1305_316+1369del) c.514+1305_514+1369del (n.514+1305_514+1369del) c.*154_*218del (n.*154_*218del) c.3669_3733del (p.Thr1225SerfsTer4) c.3639_3703del (p.Thr1215SerfsTer4) c.3765_3829del (p.Thr1257SerfsTer4) c.3054_3118del (p.Thr1020SerfsTer4) c.3597+766_3597+830del (n.3597+766_3597+830del) c.3547+1305_3547+1369del (n.3547+1305_3547+1369del) c.2991_3055del (p.Thr999SerfsTer4) c.2958_3022del (p.Thr988SerfsTer4) c.3171_3235del (p.Thr1059SerfsTer4) | |
X | g.53234954G>A | CA329162133 | IQSEC2 | c.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 |
X | g.53234954G>C | CA413141166 | IQSEC2 | c.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) | |
X | g.53234954G= | CA2429770648 | IQSEC2 | c.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=) | |
X | g.53234954G>T | CA413141168 | IQSEC2 | c.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) | |
X | g.53234955T>A | CA413141171 | IQSEC2 | c.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) | |
X | g.53234955T>C | CA413141174 | IQSEC2 | c.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) | |
X | g.53234955T>G | CA413141176 | IQSEC2 | c.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) | |
X | g.53234956G>A | CA413141178 | IQSEC2 | c.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 |
X | g.53234956G>C | CA413141180 | IQSEC2 | c.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) | |
X | g.53234956G= | CA2429770649 | IQSEC2 | c.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=) | |
X | g.53234956G>T | CA413141182 | IQSEC2 | c.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) | |
X | g.53234957G>A | CA516673660 | IQSEC2 | c.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 |
X | g.53234957G>C | CA413141187 | IQSEC2 | c.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 |
X | g.53234957G= | CA2429770650 | IQSEC2 | c.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=) | |
X | g.53234957G>T | CA413141184 | IQSEC2 | c.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) | |
X | g.53234958T>A | CA413141191 | IQSEC2 | c.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) | |
X | g.53234958T>C | CA413141196 | IQSEC2 | c.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) | |
X | g.53234958T>G | CA413141194 | IQSEC2 | c.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) | |
X | g.53234959G>A | CA329162152 | IQSEC2 | c.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 |
X | g.53234959G>C | CA413141203 | IQSEC2 | c.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) | |
X | g.53234959G= | CA2429770651 | IQSEC2 | c.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=) | |
X | g.53234959G>T | CA413141205 | IQSEC2 | c.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) | |
X | g.53234960G>A | CA516673664 | IQSEC2 | c.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 |
X | g.53234960G>C | CA413141208 | IQSEC2 | c.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 |
X | g.53234960G= | CA2429770652 | IQSEC2 | c.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=) | |
X | g.53234960G>T | CA413141211 | IQSEC2 | c.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 |
X | g.53234961T>A | CA413141214 | IQSEC2 | c.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) | |
X | g.53234961T>C | CA413141217 | IQSEC2 | c.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 |
X | g.53234961T>G | CA413141219 | IQSEC2 | c.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) | |
X | g.53234962G>A | CA413141222 | IQSEC2 | c.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) | |
X | g.53234962G>C | CA413141225 | IQSEC2 | c.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) | |
X | g.53234962G>T | CA413141228 | IQSEC2 | c.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) | |
X | g.53234963G>A | CA516673668 | IQSEC2 | c.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 |
X | g.53234963G>C | CA413141231 | IQSEC2 | c.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) | |
X | g.53234963G= | CA2429770653 | IQSEC2 | c.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=) | |
X | g.53234963G>T | CA413141234 | IQSEC2 | c.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) | |
X | g.53234964T>A | CA413141236 | IQSEC2 | c.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) | |
X | g.53234964T>C | CA413141242 | IQSEC2 | c.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) | |
X | g.53234964T>G | CA413141239 | IQSEC2 | c.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) | |
X | g.53234965G>A | CA413141245 | IQSEC2 | c.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 |
X | g.53234965G>C | CA413141248 | IQSEC2 | c.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 |
X | g.53234965G>T | CA413141249 | IQSEC2 | c.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) | |
X | g.53234966G>A | CA516673673 | IQSEC2 | c.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=) | |
X | g.53234966G>C | CA413141252 | IQSEC2 | c.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) | |
X | g.53234966G>T | CA413141255 | IQSEC2 | c.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) | |
X | g.53234967T>A | CA413141259 | IQSEC2 | c.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) | |
X | g.53234967T>C | CA413141261 | IQSEC2 | c.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) | |
X | g.53234967T>G | CA413141264 | IQSEC2 | c.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) | |
X | g.53234967T= | CA2429770654 | IQSEC2 | c.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=) | |
X | g.53234968G>A | CA413141268 | IQSEC2 | c.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) | |
X | g.53234968G>C | CA413141269 | IQSEC2 | c.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) | |
X | g.53234968G>T | CA413141272 | IQSEC2 | c.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) | |
X | g.53234969dup | CA915951123 | IQSEC2 | c.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 |
X | g.53234969G>A | CA516673678 | IQSEC2 | c.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=) | |
X | g.53234969G>C | CA413141279 | IQSEC2 | c.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) | |
X | g.53234969G>T | CA413141276 | IQSEC2 | c.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) | |
X | g.53234970T>A | CA413141282 | IQSEC2 | c.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) | |
X | g.53234970T>C | CA413141284 | IQSEC2 | c.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 |
X | g.53234970T>G | CA413141287 | IQSEC2 | c.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) | |
X | g.53234971G>A | CA413141290 | IQSEC2 | c.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 |
X | g.53234971G>C | CA413141300 | IQSEC2 | c.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) | |
X | g.53234971G= | CA2429770655 | IQSEC2 | c.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=) | |
X | g.53234971G>T | CA413141303 | IQSEC2 | c.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) | |
X | g.53234971_53234972delinsGC | CA2429770656 | IQSEC2 | c.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=) | |
X | g.53234972del | CA641903964 | IQSEC2 | c.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 |
X | g.53234972C>A | CA516673681 | IQSEC2 | c.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 |
X | g.53234972C= | CA2429770657 | IQSEC2 | c.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=) | |
X | g.53234972C>G | CA516673682 | IQSEC2 | c.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=) | |
X | g.53234972C>T | CA516673683 | IQSEC2 | c.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 |
X | g.53234973G>A | CA413141312 | IQSEC2 | c.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 |
X | g.53234973G>C | CA413141309 | IQSEC2 | c.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) | |
X | g.53234973G= | CA2429770658 | IQSEC2 | c.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=) | |
X | g.53234973G>T | CA413141308 | IQSEC2 | c.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 |
X | g.53234974T>A | CA413141316 | IQSEC2 | c.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) | |
X | g.53234974T>C | CA413141318 | IQSEC2 | c.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) | |
X | g.53234974T>G | CA413141320 | IQSEC2 | c.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) | |
X | g.53234975G>A | CA516673689 | IQSEC2 | c.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=) | |
X | g.53234975G>C | CA516673688 | IQSEC2 | c.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=) | |
X | g.53234975G>T | CA516673687 | IQSEC2 | c.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=) | |
X | g.53234976G>A | CA413141323 | IQSEC2 | c.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) | |
X | g.53234976G>C | CA413141326 | IQSEC2 | c.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) | |
X | g.53234976G>T | CA413141329 | IQSEC2 | c.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) | |
X | g.53234977A>C | CA413141333 | IQSEC2 | c.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) | |
X | g.53234977A>G | CA413141336 | IQSEC2 | c.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) | |
X | g.53234977A>T | CA413141335 | IQSEC2 | c.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) | |
X | g.53234978A= | CA2429770659 | IQSEC2 | c.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=) | |
X | g.53234978A>C | CA516673702 | IQSEC2 | c.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=) | |
X | g.53234978A>G | CA516673700 | IQSEC2 | c.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 |
X | g.53234978A>T | CA516673698 | IQSEC2 | c.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=) | |
X | g.53234979G>A | CA413141337 | IQSEC2 | c.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) | |
X | g.53234979G>C | CA413141338 | IQSEC2 | c.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) | |
X | g.53234979G>T | CA413141340 | IQSEC2 | c.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) | |
X | g.53234980A>C | CA413141342 | IQSEC2 | c.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) | |
X | g.53234980A>G | CA413141343 | IQSEC2 | c.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) | |
X | g.53234980A>T | CA413141344 | IQSEC2 | c.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) | |
X | g.53234981A>C | CA516673706 | IQSEC2 | c.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=) | |
X | g.53234981A>G | CA516673708 | IQSEC2 | c.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=) | |
X | g.53234981A>T | CA516673707 | IQSEC2 | c.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=) | |
X | g.53234982G>A | CA413141346 | IQSEC2 | c.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 |
X | g.53234982G>C | CA413141349 | IQSEC2 | c.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) | |
X | g.53234982G>T | CA413141350 | IQSEC2 | c.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) | |
X | g.53234983C>A | CA413141353 | IQSEC2 | c.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) | |
X | g.53234983C= | CA2429770660 | IQSEC2 | c.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=) | |
X | g.53234983C>G | CA413141356 | IQSEC2 | c.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) | |
X | g.53234983C>T | CA10419779 | IQSEC2 | c.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 |
X | g.53234984A>C | CA516673717 | IQSEC2 | c.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=) | |
X | g.53234984A>G | CA516673719 | IQSEC2 | c.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=) | |
X | g.53234984A>T | CA516673720 | IQSEC2 | c.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=) | |
X | g.53234985G>A | CA413141366 | IQSEC2 | c.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) | |
X | g.53234985G>C | CA413141370 | IQSEC2 | c.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) | |
X | g.53234985G>T | CA413141363 | IQSEC2 | c.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) | |
X | g.53234986A>C | CA413141375 | IQSEC2 | c.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) | |
X | g.53234986A>G | CA413141372 | IQSEC2 | c.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) | |
X | g.53234986A>T | CA413141377 | IQSEC2 | c.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) | |
X | g.53234987T>A | CA516673726 | IQSEC2 | c.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 |
X | g.53234987T>C | CA516673727 | IQSEC2 | c.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=) | |
X | g.53234987T>G | CA516673729 | IQSEC2 | c.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=) | |
X | g.53234987_53234993delinsTGAAGAG | CA2429770661 | IQSEC2 | c.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=) | |
X | g.53234988G>A | CA413141381 | IQSEC2 | c.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) | |
X | g.53234988G>C | CA413141387 | IQSEC2 | c.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) | |
X | g.53234988G>T | CA413141384 | IQSEC2 | c.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) | |
X | g.53234990_53234995del | CA10419780 | IQSEC2 | c.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 |
X | g.53234989A>C | CA413141390 | IQSEC2 | c.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) | |
X | g.53234989A>G | CA413141396 | IQSEC2 | c.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) | |
X | g.53234989A>T | CA413141393 | IQSEC2 | c.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) | |
X | g.53234990A= | CA2429770662 | IQSEC2 | c.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=) | |
X | g.53234990A>C | CA516673736 | IQSEC2 | c.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 |
X | g.53234990A>G | CA516673737 | IQSEC2 | c.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=) | |
X | g.53234990A>T | CA516673738 | IQSEC2 | c.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=) | |
X | g.53234991G>A | CA413141398 | IQSEC2 | c.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) | |
X | g.53234991G>C | CA413141400 | IQSEC2 | c.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) | |
X | g.53234991G>T | CA413141403 | IQSEC2 | c.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) | |
X | g.53234995_53234997del | CA2693794293 | IQSEC2 | c.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 |
X | g.53234992A>C | CA413141414 | IQSEC2 | c.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) | |
X | g.53234992A>G | CA413141416 | IQSEC2 | c.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) | |
X | g.53234992A>T | CA413141421 | IQSEC2 | c.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) | |
X | g.53234993G>A | CA329162188 | IQSEC2 | c.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 |
X | g.53234993G>C | CA516673739 | IQSEC2 | c.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=) | |
X | g.53234993G= | CA2429770663 | IQSEC2 | c.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=) | |
X | g.53234993G>T | CA516673740 | IQSEC2 | c.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=) | |
X | g.53234994G>A | CA413141428 | IQSEC2 | c.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) | |
X | g.53234994G>C | CA413141431 | IQSEC2 | c.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) | |
X | g.53234994G>T | CA413141432 | IQSEC2 | c.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) | |
X | g.53234995A>C | CA413141442 | IQSEC2 | c.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) | |
X | g.53234995A>G | CA413141440 | IQSEC2 | c.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) | |
X | g.53234995A>T | CA413141437 | IQSEC2 | c.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) | |
X | g.53234996G>A | CA516673742 | IQSEC2 | c.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=) | |
X | g.53234996G>C | CA516673744 | IQSEC2 | c.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=) | |
X | g.53234996G>T | CA516673743 | IQSEC2 | c.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=) | |
X | g.53234997G>A | CA413141446 | IQSEC2 | c.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 |
X | g.53234997G>C | CA413141447 | IQSEC2 | c.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) | |
X | g.53234997G>T | CA413141450 | IQSEC2 | c.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) | |
X | g.53234998C>A | CA413141453 | IQSEC2 | c.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 |
X | g.53234998C= | CA2429770664 | IQSEC2 | c.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=) | |
X | g.53234998C>G | CA413141456 | IQSEC2 | c.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) | |
X | g.53234998C>T | CA413141458 | IQSEC2 | c.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) | |
X | g.53234999A= | CA2429770665 | IQSEC2 | c.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=) | |
X | g.53234999A>C | CA516673748 | IQSEC2 | c.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=) | |
X | g.53234999A>G | CA516673749 | IQSEC2 | c.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 |
X | g.53234999A>T | CA516673750 | IQSEC2 | c.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 |
X | g.53235000G>A | CA413141461 | IQSEC2 | c.3845C>T (p.Ser1282Phe) c.1453+783C>T c.962+783C>T c.316+1322C>T (n.316+1322C>T) c.514+1322C>T (n.514+1322C>T) c.*171C>T (n.*171C>T) c.3686C>T (p.Ser1229Phe) c.3656C>T (p.Ser1219Phe) c.3782C>T (p.Ser1261Phe) c.3071C>T (p.Ser1024Phe) c.3597+783C>T (n.3597+783C>T) c.3547+1322C>T (n.3547+1322C>T) c.3008C>T (p.Ser1003Phe) c.2975C>T (p.Ser992Phe) c.3188C>T (p.Ser1063Phe) | |
X | g.53235000G>C | CA413141463 | IQSEC2 | c.3845C>G (p.Ser1282Cys) c.1453+783C>G c.962+783C>G c.316+1322C>G (n.316+1322C>G) c.514+1322C>G (n.514+1322C>G) c.*171C>G (n.*171C>G) c.3686C>G (p.Ser1229Cys) c.3656C>G (p.Ser1219Cys) c.3782C>G (p.Ser1261Cys) c.3071C>G (p.Ser1024Cys) c.3597+783C>G (n.3597+783C>G) c.3547+1322C>G (n.3547+1322C>G) c.3008C>G (p.Ser1003Cys) c.2975C>G (p.Ser992Cys) c.3188C>G (p.Ser1063Cys) | dbSNP |
X | g.53235000G= | CA2429770666 | IQSEC2 | c.3845C= (p.Ser1282=) c.1453+783C= c.962+783C= c.316+1322C= (n.316+1322C=) c.514+1322C= (n.514+1322C=) c.*171C= (n.*171C=) c.3686C= (p.Ser1229=) c.3656C= (p.Ser1219=) c.3782C= (p.Ser1261=) c.3071C= (p.Ser1024=) c.3597+783C= (n.3597+783C=) c.3547+1322C= (n.3547+1322C=) c.3008C= (p.Ser1003=) c.2975C= (p.Ser992=) c.3188C= (p.Ser1063=) | |
X | g.53235000G>T | CA413141465 | IQSEC2 | c.3845C>A (p.Ser1282Tyr) c.1453+783C>A c.962+783C>A c.316+1322C>A (n.316+1322C>A) c.514+1322C>A (n.514+1322C>A) c.*171C>A (n.*171C>A) c.3686C>A (p.Ser1229Tyr) c.3656C>A (p.Ser1219Tyr) c.3782C>A (p.Ser1261Tyr) c.3071C>A (p.Ser1024Tyr) c.3597+783C>A (n.3597+783C>A) c.3547+1322C>A (n.3547+1322C>A) c.3008C>A (p.Ser1003Tyr) c.2975C>A (p.Ser992Tyr) c.3188C>A (p.Ser1063Tyr) | |
X | g.53235001A>C | CA413141470 | IQSEC2 | c.3844T>G (p.Ser1282Ala) c.1453+782T>G c.962+782T>G c.316+1321T>G (n.316+1321T>G) c.514+1321T>G (n.514+1321T>G) c.*170T>G (n.*170T>G) c.3685T>G (p.Ser1229Ala) c.3655T>G (p.Ser1219Ala) c.3781T>G (p.Ser1261Ala) c.3070T>G (p.Ser1024Ala) c.3597+782T>G (n.3597+782T>G) c.3547+1321T>G (n.3547+1321T>G) c.3007T>G (p.Ser1003Ala) c.2974T>G (p.Ser992Ala) c.3187T>G (p.Ser1063Ala) | |
X | g.53235001A>G | CA413141473 | IQSEC2 | c.3844T>C (p.Ser1282Pro) c.1453+782T>C c.962+782T>C c.316+1321T>C (n.316+1321T>C) c.514+1321T>C (n.514+1321T>C) c.*170T>C (n.*170T>C) c.3685T>C (p.Ser1229Pro) c.3655T>C (p.Ser1219Pro) c.3781T>C (p.Ser1261Pro) c.3070T>C (p.Ser1024Pro) c.3597+782T>C (n.3597+782T>C) c.3547+1321T>C (n.3547+1321T>C) c.3007T>C (p.Ser1003Pro) c.2974T>C (p.Ser992Pro) c.3187T>C (p.Ser1063Pro) | |
X | g.53235001A>T | CA413141475 | IQSEC2 | c.3844T>A (p.Ser1282Thr) c.1453+782T>A c.962+782T>A c.316+1321T>A (n.316+1321T>A) c.514+1321T>A (n.514+1321T>A) c.*170T>A (n.*170T>A) c.3685T>A (p.Ser1229Thr) c.3655T>A (p.Ser1219Thr) c.3781T>A (p.Ser1261Thr) c.3070T>A (p.Ser1024Thr) c.3597+782T>A (n.3597+782T>A) c.3547+1321T>A (n.3547+1321T>A) c.3007T>A (p.Ser1003Thr) c.2974T>A (p.Ser992Thr) c.3187T>A (p.Ser1063Thr) |