Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53234706G>A | CA413139937 | IQSEC2 | c.4139C>T (p.Pro1380Leu) c.1453+1077C>T c.962+1077C>T c.316+1616C>T (n.316+1616C>T) c.514+1616C>T (n.514+1616C>T) c.*465C>T (n.*465C>T) c.3980C>T (p.Pro1327Leu) c.3950C>T (p.Pro1317Leu) c.4076C>T (p.Pro1359Leu) c.3365C>T (p.Pro1122Leu) c.3597+1077C>T (n.3597+1077C>T) c.3547+1616C>T (n.3547+1616C>T) c.3302C>T (p.Pro1101Leu) c.3269C>T (p.Pro1090Leu) c.3482C>T (p.Pro1161Leu) | gnomAD v4 |
X | g.53234706G>C | CA413139939 | IQSEC2 | c.4139C>G (p.Pro1380Arg) c.1453+1077C>G c.962+1077C>G c.316+1616C>G (n.316+1616C>G) c.514+1616C>G (n.514+1616C>G) c.*465C>G (n.*465C>G) c.3980C>G (p.Pro1327Arg) c.3950C>G (p.Pro1317Arg) c.4076C>G (p.Pro1359Arg) c.3365C>G (p.Pro1122Arg) c.3597+1077C>G (n.3597+1077C>G) c.3547+1616C>G (n.3547+1616C>G) c.3302C>G (p.Pro1101Arg) c.3269C>G (p.Pro1090Arg) c.3482C>G (p.Pro1161Arg) | |
X | g.53234706G>T | CA413139941 | IQSEC2 | c.4139C>A (p.Pro1380Gln) c.1453+1077C>A c.962+1077C>A c.316+1616C>A (n.316+1616C>A) c.514+1616C>A (n.514+1616C>A) c.*465C>A (n.*465C>A) c.3980C>A (p.Pro1327Gln) c.3950C>A (p.Pro1317Gln) c.4076C>A (p.Pro1359Gln) c.3365C>A (p.Pro1122Gln) c.3597+1077C>A (n.3597+1077C>A) c.3547+1616C>A (n.3547+1616C>A) c.3302C>A (p.Pro1101Gln) c.3269C>A (p.Pro1090Gln) c.3482C>A (p.Pro1161Gln) | gnomAD v4 |
X | g.53234708del | CA2693794284 | IQSEC2 | c.4139del (p.Pro1380GlnfsTer?) c.1453+1077del c.962+1077del c.316+1616del (n.316+1616del) c.514+1616del (n.514+1616del) c.*465del (n.*465del) c.3980del (p.Pro1327GlnfsTer?) c.3950del (p.Pro1317GlnfsTer?) c.4076del (p.Pro1359GlnfsTer?) c.3365del (p.Pro1122GlnfsTer?) c.3597+1077del (n.3597+1077del) c.3547+1616del (n.3547+1616del) c.3302del (p.Pro1101GlnfsTer?) c.3269del (p.Pro1090GlnfsTer?) c.3482del (p.Pro1161GlnfsTer?) | gnomAD v4 |
X | g.53234707G>A | CA413139942 | IQSEC2 | c.4138C>T (p.Pro1380Ser) c.1453+1076C>T c.962+1076C>T c.316+1615C>T (n.316+1615C>T) c.514+1615C>T (n.514+1615C>T) c.*464C>T (n.*464C>T) c.3979C>T (p.Pro1327Ser) c.3949C>T (p.Pro1317Ser) c.4075C>T (p.Pro1359Ser) c.3364C>T (p.Pro1122Ser) c.3597+1076C>T (n.3597+1076C>T) c.3547+1615C>T (n.3547+1615C>T) c.3301C>T (p.Pro1101Ser) c.3268C>T (p.Pro1090Ser) c.3481C>T (p.Pro1161Ser) | |
X | g.53234707G>C | CA413139944 | IQSEC2 | c.4138C>G (p.Pro1380Ala) c.1453+1076C>G c.962+1076C>G c.316+1615C>G (n.316+1615C>G) c.514+1615C>G (n.514+1615C>G) c.*464C>G (n.*464C>G) c.3979C>G (p.Pro1327Ala) c.3949C>G (p.Pro1317Ala) c.4075C>G (p.Pro1359Ala) c.3364C>G (p.Pro1122Ala) c.3597+1076C>G (n.3597+1076C>G) c.3547+1615C>G (n.3547+1615C>G) c.3301C>G (p.Pro1101Ala) c.3268C>G (p.Pro1090Ala) c.3481C>G (p.Pro1161Ala) | |
X | g.53234707G>T | CA413139946 | IQSEC2 | c.4138C>A (p.Pro1380Thr) c.1453+1076C>A c.962+1076C>A c.316+1615C>A (n.316+1615C>A) c.514+1615C>A (n.514+1615C>A) c.*464C>A (n.*464C>A) c.3979C>A (p.Pro1327Thr) c.3949C>A (p.Pro1317Thr) c.4075C>A (p.Pro1359Thr) c.3364C>A (p.Pro1122Thr) c.3597+1076C>A (n.3597+1076C>A) c.3547+1615C>A (n.3547+1615C>A) c.3301C>A (p.Pro1101Thr) c.3268C>A (p.Pro1090Thr) c.3481C>A (p.Pro1161Thr) | |
X | g.53234708G>A | CA516673501 | IQSEC2 | c.4137C>T (p.Gly1379=) c.1453+1075C>T c.962+1075C>T c.316+1614C>T (n.316+1614C>T) c.514+1614C>T (n.514+1614C>T) c.*463C>T (n.*463C>T) c.3978C>T (p.Gly1326=) c.3948C>T (p.Gly1316=) c.4074C>T (p.Gly1358=) c.3363C>T (p.Gly1121=) c.3597+1075C>T (n.3597+1075C>T) c.3547+1614C>T (n.3547+1614C>T) c.3300C>T (p.Gly1100=) c.3267C>T (p.Gly1089=) c.3480C>T (p.Gly1160=) | dbSNP gnomAD v4 |
X | g.53234708G>C | CA516673502 | IQSEC2 | c.4137C>G (p.Gly1379=) c.1453+1075C>G c.962+1075C>G c.316+1614C>G (n.316+1614C>G) c.514+1614C>G (n.514+1614C>G) c.*463C>G (n.*463C>G) c.3978C>G (p.Gly1326=) c.3948C>G (p.Gly1316=) c.4074C>G (p.Gly1358=) c.3363C>G (p.Gly1121=) c.3597+1075C>G (n.3597+1075C>G) c.3547+1614C>G (n.3547+1614C>G) c.3300C>G (p.Gly1100=) c.3267C>G (p.Gly1089=) c.3480C>G (p.Gly1160=) | |
X | g.53234708G= | CA2429770564 | IQSEC2 | c.4137C= (p.Gly1379=) c.1453+1075C= c.962+1075C= c.316+1614C= (n.316+1614C=) c.514+1614C= (n.514+1614C=) c.*463C= (n.*463C=) c.3978C= (p.Gly1326=) c.3948C= (p.Gly1316=) c.4074C= (p.Gly1358=) c.3363C= (p.Gly1121=) c.3597+1075C= (n.3597+1075C=) c.3547+1614C= (n.3547+1614C=) c.3300C= (p.Gly1100=) c.3267C= (p.Gly1089=) c.3480C= (p.Gly1160=) | |
X | g.53234708G>T | CA516673504 | IQSEC2 | c.4137C>A (p.Gly1379=) c.1453+1075C>A c.962+1075C>A c.316+1614C>A (n.316+1614C>A) c.514+1614C>A (n.514+1614C>A) c.*463C>A (n.*463C>A) c.3978C>A (p.Gly1326=) c.3948C>A (p.Gly1316=) c.4074C>A (p.Gly1358=) c.3363C>A (p.Gly1121=) c.3597+1075C>A (n.3597+1075C>A) c.3547+1614C>A (n.3547+1614C>A) c.3300C>A (p.Gly1100=) c.3267C>A (p.Gly1089=) c.3480C>A (p.Gly1160=) | gnomAD v4 |
X | g.53234709C>A | CA413139948 | IQSEC2 | c.4136G>T (p.Gly1379Val) c.1453+1074G>T c.962+1074G>T c.316+1613G>T (n.316+1613G>T) c.514+1613G>T (n.514+1613G>T) c.*462G>T (n.*462G>T) c.3977G>T (p.Gly1326Val) c.3947G>T (p.Gly1316Val) c.4073G>T (p.Gly1358Val) c.3362G>T (p.Gly1121Val) c.3597+1074G>T (n.3597+1074G>T) c.3547+1613G>T (n.3547+1613G>T) c.3299G>T (p.Gly1100Val) c.3266G>T (p.Gly1089Val) c.3479G>T (p.Gly1160Val) | gnomAD v4 |
X | g.53234709C>G | CA413139949 | IQSEC2 | c.4136G>C (p.Gly1379Ala) c.1453+1074G>C c.962+1074G>C c.316+1613G>C (n.316+1613G>C) c.514+1613G>C (n.514+1613G>C) c.*462G>C (n.*462G>C) c.3977G>C (p.Gly1326Ala) c.3947G>C (p.Gly1316Ala) c.4073G>C (p.Gly1358Ala) c.3362G>C (p.Gly1121Ala) c.3597+1074G>C (n.3597+1074G>C) c.3547+1613G>C (n.3547+1613G>C) c.3299G>C (p.Gly1100Ala) c.3266G>C (p.Gly1089Ala) c.3479G>C (p.Gly1160Ala) | |
X | g.53234709C>T | CA413139950 | IQSEC2 | c.4136G>A (p.Gly1379Asp) c.1453+1074G>A c.962+1074G>A c.316+1613G>A (n.316+1613G>A) c.514+1613G>A (n.514+1613G>A) c.*462G>A (n.*462G>A) c.3977G>A (p.Gly1326Asp) c.3947G>A (p.Gly1316Asp) c.4073G>A (p.Gly1358Asp) c.3362G>A (p.Gly1121Asp) c.3597+1074G>A (n.3597+1074G>A) c.3547+1613G>A (n.3547+1613G>A) c.3299G>A (p.Gly1100Asp) c.3266G>A (p.Gly1089Asp) c.3479G>A (p.Gly1160Asp) | gnomAD v4 |
X | g.53234710del | CA2739290486 | IQSEC2 | c.4136del (p.Gly1379AlafsTer?) c.1453+1074del c.962+1074del c.316+1613del (n.316+1613del) c.514+1613del (n.514+1613del) c.*462del (n.*462del) c.3977del (p.Gly1326AlafsTer?) c.3947del (p.Gly1316AlafsTer?) c.4073del (p.Gly1358AlafsTer?) c.3362del (p.Gly1121AlafsTer?) c.3597+1074del (n.3597+1074del) c.3547+1613del (n.3547+1613del) c.3299del (p.Gly1100AlafsTer?) c.3266del (p.Gly1089AlafsTer?) c.3479del (p.Gly1160AlafsTer?) | |
X | g.53234710C>A | CA413139952 | IQSEC2 | c.4135G>T (p.Gly1379Cys) c.1453+1073G>T c.962+1073G>T c.316+1612G>T (n.316+1612G>T) c.514+1612G>T (n.514+1612G>T) c.*461G>T (n.*461G>T) c.3976G>T (p.Gly1326Cys) c.3946G>T (p.Gly1316Cys) c.4072G>T (p.Gly1358Cys) c.3361G>T (p.Gly1121Cys) c.3597+1073G>T (n.3597+1073G>T) c.3547+1612G>T (n.3547+1612G>T) c.3298G>T (p.Gly1100Cys) c.3265G>T (p.Gly1089Cys) c.3478G>T (p.Gly1160Cys) | gnomAD v4 |
X | g.53234710C>G | CA413139954 | IQSEC2 | c.4135G>C (p.Gly1379Arg) c.1453+1073G>C c.962+1073G>C c.316+1612G>C (n.316+1612G>C) c.514+1612G>C (n.514+1612G>C) c.*461G>C (n.*461G>C) c.3976G>C (p.Gly1326Arg) c.3946G>C (p.Gly1316Arg) c.4072G>C (p.Gly1358Arg) c.3361G>C (p.Gly1121Arg) c.3597+1073G>C (n.3597+1073G>C) c.3547+1612G>C (n.3547+1612G>C) c.3298G>C (p.Gly1100Arg) c.3265G>C (p.Gly1089Arg) c.3478G>C (p.Gly1160Arg) | |
X | g.53234710C>T | CA413139956 | IQSEC2 | c.4135G>A (p.Gly1379Ser) c.1453+1073G>A c.962+1073G>A c.316+1612G>A (n.316+1612G>A) c.514+1612G>A (n.514+1612G>A) c.*461G>A (n.*461G>A) c.3976G>A (p.Gly1326Ser) c.3946G>A (p.Gly1316Ser) c.4072G>A (p.Gly1358Ser) c.3361G>A (p.Gly1121Ser) c.3597+1073G>A (n.3597+1073G>A) c.3547+1612G>A (n.3547+1612G>A) c.3298G>A (p.Gly1100Ser) c.3265G>A (p.Gly1089Ser) c.3478G>A (p.Gly1160Ser) | |
X | g.53234711A= | CA2429770565 | IQSEC2 | c.4134T= (p.His1378=) c.1453+1072T= c.962+1072T= c.316+1611T= (n.316+1611T=) c.514+1611T= (n.514+1611T=) c.*460T= (n.*460T=) c.3975T= (p.His1325=) c.3945T= (p.His1315=) c.4071T= (p.His1357=) c.3360T= (p.His1120=) c.3597+1072T= (n.3597+1072T=) c.3547+1611T= (n.3547+1611T=) c.3297T= (p.His1099=) c.3264T= (p.His1088=) c.3477T= (p.His1159=) | |
X | g.53234711A>C | CA413139959 | IQSEC2 | c.4134T>G (p.His1378Gln) c.1453+1072T>G c.962+1072T>G c.316+1611T>G (n.316+1611T>G) c.514+1611T>G (n.514+1611T>G) c.*460T>G (n.*460T>G) c.3975T>G (p.His1325Gln) c.3945T>G (p.His1315Gln) c.4071T>G (p.His1357Gln) c.3360T>G (p.His1120Gln) c.3597+1072T>G (n.3597+1072T>G) c.3547+1611T>G (n.3547+1611T>G) c.3297T>G (p.His1099Gln) c.3264T>G (p.His1088Gln) c.3477T>G (p.His1159Gln) | |
X | g.53234711A>G | CA516673505 | IQSEC2 | c.4134T>C (p.His1378=) c.1453+1072T>C c.962+1072T>C c.316+1611T>C (n.316+1611T>C) c.514+1611T>C (n.514+1611T>C) c.*460T>C (n.*460T>C) c.3975T>C (p.His1325=) c.3945T>C (p.His1315=) c.4071T>C (p.His1357=) c.3360T>C (p.His1120=) c.3597+1072T>C (n.3597+1072T>C) c.3547+1611T>C (n.3547+1611T>C) c.3297T>C (p.His1099=) c.3264T>C (p.His1088=) c.3477T>C (p.His1159=) | dbSNP gnomAD v4 |
X | g.53234711A>T | CA413139957 | IQSEC2 | c.4134T>A (p.His1378Gln) c.1453+1072T>A c.962+1072T>A c.316+1611T>A (n.316+1611T>A) c.514+1611T>A (n.514+1611T>A) c.*460T>A (n.*460T>A) c.3975T>A (p.His1325Gln) c.3945T>A (p.His1315Gln) c.4071T>A (p.His1357Gln) c.3360T>A (p.His1120Gln) c.3597+1072T>A (n.3597+1072T>A) c.3547+1611T>A (n.3547+1611T>A) c.3297T>A (p.His1099Gln) c.3264T>A (p.His1088Gln) c.3477T>A (p.His1159Gln) | |
X | g.53234712T>A | CA413139961 | IQSEC2 | c.4133A>T (p.His1378Leu) c.1453+1071A>T c.962+1071A>T c.316+1610A>T (n.316+1610A>T) c.514+1610A>T (n.514+1610A>T) c.*459A>T (n.*459A>T) c.3974A>T (p.His1325Leu) c.3944A>T (p.His1315Leu) c.4070A>T (p.His1357Leu) c.3359A>T (p.His1120Leu) c.3597+1071A>T (n.3597+1071A>T) c.3547+1610A>T (n.3547+1610A>T) c.3296A>T (p.His1099Leu) c.3263A>T (p.His1088Leu) c.3476A>T (p.His1159Leu) | |
X | g.53234712T>C | CA413139962 | IQSEC2 | c.4133A>G (p.His1378Arg) c.1453+1071A>G c.962+1071A>G c.316+1610A>G (n.316+1610A>G) c.514+1610A>G (n.514+1610A>G) c.*459A>G (n.*459A>G) c.3974A>G (p.His1325Arg) c.3944A>G (p.His1315Arg) c.4070A>G (p.His1357Arg) c.3359A>G (p.His1120Arg) c.3597+1071A>G (n.3597+1071A>G) c.3547+1610A>G (n.3547+1610A>G) c.3296A>G (p.His1099Arg) c.3263A>G (p.His1088Arg) c.3476A>G (p.His1159Arg) | gnomAD v4 |
X | g.53234712T>G | CA413139964 | IQSEC2 | c.4133A>C (p.His1378Pro) c.1453+1071A>C c.962+1071A>C c.316+1610A>C (n.316+1610A>C) c.514+1610A>C (n.514+1610A>C) c.*459A>C (n.*459A>C) c.3974A>C (p.His1325Pro) c.3944A>C (p.His1315Pro) c.4070A>C (p.His1357Pro) c.3359A>C (p.His1120Pro) c.3597+1071A>C (n.3597+1071A>C) c.3547+1610A>C (n.3547+1610A>C) c.3296A>C (p.His1099Pro) c.3263A>C (p.His1088Pro) c.3476A>C (p.His1159Pro) | |
X | g.53234713G>A | CA413139966 | IQSEC2 | c.4132C>T (p.His1378Tyr) c.1453+1070C>T c.962+1070C>T c.316+1609C>T (n.316+1609C>T) c.514+1609C>T (n.514+1609C>T) c.*458C>T (n.*458C>T) c.3973C>T (p.His1325Tyr) c.3943C>T (p.His1315Tyr) c.4069C>T (p.His1357Tyr) c.3358C>T (p.His1120Tyr) c.3597+1070C>T (n.3597+1070C>T) c.3547+1609C>T (n.3547+1609C>T) c.3295C>T (p.His1099Tyr) c.3262C>T (p.His1088Tyr) c.3475C>T (p.His1159Tyr) | gnomAD v4 |
X | g.53234713G>C | CA413139967 | IQSEC2 | c.4132C>G (p.His1378Asp) c.1453+1070C>G c.962+1070C>G c.316+1609C>G (n.316+1609C>G) c.514+1609C>G (n.514+1609C>G) c.*458C>G (n.*458C>G) c.3973C>G (p.His1325Asp) c.3943C>G (p.His1315Asp) c.4069C>G (p.His1357Asp) c.3358C>G (p.His1120Asp) c.3597+1070C>G (n.3597+1070C>G) c.3547+1609C>G (n.3547+1609C>G) c.3295C>G (p.His1099Asp) c.3262C>G (p.His1088Asp) c.3475C>G (p.His1159Asp) | |
X | g.53234713G>T | CA413139969 | IQSEC2 | c.4132C>A (p.His1378Asn) c.1453+1070C>A c.962+1070C>A c.316+1609C>A (n.316+1609C>A) c.514+1609C>A (n.514+1609C>A) c.*458C>A (n.*458C>A) c.3973C>A (p.His1325Asn) c.3943C>A (p.His1315Asn) c.4069C>A (p.His1357Asn) c.3358C>A (p.His1120Asn) c.3597+1070C>A (n.3597+1070C>A) c.3547+1609C>A (n.3547+1609C>A) c.3295C>A (p.His1099Asn) c.3262C>A (p.His1088Asn) c.3475C>A (p.His1159Asn) | |
X | g.53234715dup | CA2580617056 | IQSEC2 | c.4132dup (p.His1378ProfsTer?) c.1453+1070dup c.962+1070dup c.316+1609dup (n.316+1609dup) c.514+1609dup (n.514+1609dup) c.*458dup (n.*458dup) c.3973dup (p.His1325ProfsTer?) c.3943dup (p.His1315ProfsTer?) c.4069dup (p.His1357ProfsTer?) c.3358dup (p.His1120ProfsTer?) c.3597+1070dup (n.3597+1070dup) c.3547+1609dup (n.3547+1609dup) c.3295dup (p.His1099ProfsTer?) c.3262dup (p.His1088ProfsTer?) c.3475dup (p.His1159ProfsTer?) | ClinVar |
X | g.53234715del | CA2693794285 | IQSEC2 | c.4132del (p.His1378MetfsTer?) c.1453+1070del c.962+1070del c.316+1609del (n.316+1609del) c.514+1609del (n.514+1609del) c.*458del (n.*458del) c.3973del (p.His1325MetfsTer?) c.3943del (p.His1315MetfsTer?) c.4069del (p.His1357MetfsTer?) c.3358del (p.His1120MetfsTer?) c.3597+1070del (n.3597+1070del) c.3547+1609del (n.3547+1609del) c.3295del (p.His1099MetfsTer?) c.3262del (p.His1088MetfsTer?) c.3475del (p.His1159MetfsTer?) | gnomAD v4 |
X | g.53234714G>A | CA516673512 | IQSEC2 | c.4131C>T (p.Ala1377=) c.1453+1069C>T c.962+1069C>T c.316+1608C>T (n.316+1608C>T) c.514+1608C>T (n.514+1608C>T) c.*457C>T (n.*457C>T) c.3972C>T (p.Ala1324=) c.3942C>T (p.Ala1314=) c.4068C>T (p.Ala1356=) c.3357C>T (p.Ala1119=) c.3597+1069C>T (n.3597+1069C>T) c.3547+1608C>T (n.3547+1608C>T) c.3294C>T (p.Ala1098=) c.3261C>T (p.Ala1087=) c.3474C>T (p.Ala1158=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53234714G>C | CA516673510 | IQSEC2 | c.4131C>G (p.Ala1377=) c.1453+1069C>G c.962+1069C>G c.316+1608C>G (n.316+1608C>G) c.514+1608C>G (n.514+1608C>G) c.*457C>G (n.*457C>G) c.3972C>G (p.Ala1324=) c.3942C>G (p.Ala1314=) c.4068C>G (p.Ala1356=) c.3357C>G (p.Ala1119=) c.3597+1069C>G (n.3597+1069C>G) c.3547+1608C>G (n.3547+1608C>G) c.3294C>G (p.Ala1098=) c.3261C>G (p.Ala1087=) c.3474C>G (p.Ala1158=) | |
X | g.53234714G= | CA2429770566 | IQSEC2 | c.4131C= (p.Ala1377=) c.1453+1069C= c.962+1069C= c.316+1608C= (n.316+1608C=) c.514+1608C= (n.514+1608C=) c.*457C= (n.*457C=) c.3972C= (p.Ala1324=) c.3942C= (p.Ala1314=) c.4068C= (p.Ala1356=) c.3357C= (p.Ala1119=) c.3597+1069C= (n.3597+1069C=) c.3547+1608C= (n.3547+1608C=) c.3294C= (p.Ala1098=) c.3261C= (p.Ala1087=) c.3474C= (p.Ala1158=) | |
X | g.53234714G>T | CA516673511 | IQSEC2 | c.4131C>A (p.Ala1377=) c.1453+1069C>A c.962+1069C>A c.316+1608C>A (n.316+1608C>A) c.514+1608C>A (n.514+1608C>A) c.*457C>A (n.*457C>A) c.3972C>A (p.Ala1324=) c.3942C>A (p.Ala1314=) c.4068C>A (p.Ala1356=) c.3357C>A (p.Ala1119=) c.3597+1069C>A (n.3597+1069C>A) c.3547+1608C>A (n.3547+1608C>A) c.3294C>A (p.Ala1098=) c.3261C>A (p.Ala1087=) c.3474C>A (p.Ala1158=) | gnomAD v4 |
X | g.53234714_53234715delinsAA | CA645609627 | IQSEC2 | c.4130_4131delinsTT (p.Ala1377Val) c.1453+1068_1453+1069delinsTT c.962+1068_962+1069delinsTT c.316+1607_316+1608delinsTT (n.316+1607_316+1608delinsTT) c.514+1607_514+1608delinsTT (n.514+1607_514+1608delinsTT) c.*456_*457delinsTT (n.*456_*457delinsTT) c.3971_3972delinsTT (p.Ala1324Val) c.3941_3942delinsTT (p.Ala1314Val) c.4067_4068delinsTT (p.Ala1356Val) c.3356_3357delinsTT (p.Ala1119Val) c.3597+1068_3597+1069delinsTT (n.3597+1068_3597+1069delinsTT) c.3547+1607_3547+1608delinsTT (n.3547+1607_3547+1608delinsTT) c.3293_3294delinsTT (p.Ala1098Val) c.3260_3261delinsTT (p.Ala1087Val) c.3473_3474delinsTT (p.Ala1158Val) | COSMIC |
X | g.53234715G>A | CA413139974 | IQSEC2 | c.4130C>T (p.Ala1377Val) c.1453+1068C>T c.962+1068C>T c.316+1607C>T (n.316+1607C>T) c.514+1607C>T (n.514+1607C>T) c.*456C>T (n.*456C>T) c.3971C>T (p.Ala1324Val) c.3941C>T (p.Ala1314Val) c.4067C>T (p.Ala1356Val) c.3356C>T (p.Ala1119Val) c.3597+1068C>T (n.3597+1068C>T) c.3547+1607C>T (n.3547+1607C>T) c.3293C>T (p.Ala1098Val) c.3260C>T (p.Ala1087Val) c.3473C>T (p.Ala1158Val) | |
X | g.53234715G>C | CA413139971 | IQSEC2 | c.4130C>G (p.Ala1377Gly) c.1453+1068C>G c.962+1068C>G c.316+1607C>G (n.316+1607C>G) c.514+1607C>G (n.514+1607C>G) c.*456C>G (n.*456C>G) c.3971C>G (p.Ala1324Gly) c.3941C>G (p.Ala1314Gly) c.4067C>G (p.Ala1356Gly) c.3356C>G (p.Ala1119Gly) c.3597+1068C>G (n.3597+1068C>G) c.3547+1607C>G (n.3547+1607C>G) c.3293C>G (p.Ala1098Gly) c.3260C>G (p.Ala1087Gly) c.3473C>G (p.Ala1158Gly) | |
X | g.53234715G>T | CA413139973 | IQSEC2 | c.4130C>A (p.Ala1377Asp) c.1453+1068C>A c.962+1068C>A c.316+1607C>A (n.316+1607C>A) c.514+1607C>A (n.514+1607C>A) c.*456C>A (n.*456C>A) c.3971C>A (p.Ala1324Asp) c.3941C>A (p.Ala1314Asp) c.4067C>A (p.Ala1356Asp) c.3356C>A (p.Ala1119Asp) c.3597+1068C>A (n.3597+1068C>A) c.3547+1607C>A (n.3547+1607C>A) c.3293C>A (p.Ala1098Asp) c.3260C>A (p.Ala1087Asp) c.3473C>A (p.Ala1158Asp) | |
X | g.53234716C>A | CA413139975 | IQSEC2 | c.4129G>T (p.Ala1377Ser) c.1453+1067G>T c.962+1067G>T c.316+1606G>T (n.316+1606G>T) c.514+1606G>T (n.514+1606G>T) c.*455G>T (n.*455G>T) c.3970G>T (p.Ala1324Ser) c.3940G>T (p.Ala1314Ser) c.4066G>T (p.Ala1356Ser) c.3355G>T (p.Ala1119Ser) c.3597+1067G>T (n.3597+1067G>T) c.3547+1606G>T (n.3547+1606G>T) c.3292G>T (p.Ala1098Ser) c.3259G>T (p.Ala1087Ser) c.3472G>T (p.Ala1158Ser) | gnomAD v4 |
X | g.53234716C= | CA2429770567 | IQSEC2 | c.4129G= (p.Ala1377=) c.1453+1067G= c.962+1067G= c.316+1606G= (n.316+1606G=) c.514+1606G= (n.514+1606G=) c.*455G= (n.*455G=) c.3970G= (p.Ala1324=) c.3940G= (p.Ala1314=) c.4066G= (p.Ala1356=) c.3355G= (p.Ala1119=) c.3597+1067G= (n.3597+1067G=) c.3547+1606G= (n.3547+1606G=) c.3292G= (p.Ala1098=) c.3259G= (p.Ala1087=) c.3472G= (p.Ala1158=) | |
X | g.53234716C>G | CA413139977 | IQSEC2 | c.4129G>C (p.Ala1377Pro) c.1453+1067G>C c.962+1067G>C c.316+1606G>C (n.316+1606G>C) c.514+1606G>C (n.514+1606G>C) c.*455G>C (n.*455G>C) c.3970G>C (p.Ala1324Pro) c.3940G>C (p.Ala1314Pro) c.4066G>C (p.Ala1356Pro) c.3355G>C (p.Ala1119Pro) c.3597+1067G>C (n.3597+1067G>C) c.3547+1606G>C (n.3547+1606G>C) c.3292G>C (p.Ala1098Pro) c.3259G>C (p.Ala1087Pro) c.3472G>C (p.Ala1158Pro) | |
X | g.53234716C>T | CA16608885 | IQSEC2 | c.4129G>A (p.Ala1377Thr) c.1453+1067G>A c.962+1067G>A c.316+1606G>A (n.316+1606G>A) c.514+1606G>A (n.514+1606G>A) c.*455G>A (n.*455G>A) c.3970G>A (p.Ala1324Thr) c.3940G>A (p.Ala1314Thr) c.4066G>A (p.Ala1356Thr) c.3355G>A (p.Ala1119Thr) c.3597+1067G>A (n.3597+1067G>A) c.3547+1606G>A (n.3547+1606G>A) c.3292G>A (p.Ala1098Thr) c.3259G>A (p.Ala1087Thr) c.3472G>A (p.Ala1158Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234717G>A | CA516673517 | IQSEC2 | c.4128C>T (p.His1376=) c.1453+1066C>T c.962+1066C>T c.316+1605C>T (n.316+1605C>T) c.514+1605C>T (n.514+1605C>T) c.*454C>T (n.*454C>T) c.3969C>T (p.His1323=) c.3939C>T (p.His1313=) c.4065C>T (p.His1355=) c.3354C>T (p.His1118=) c.3597+1066C>T (n.3597+1066C>T) c.3547+1605C>T (n.3547+1605C>T) c.3291C>T (p.His1097=) c.3258C>T (p.His1086=) c.3471C>T (p.His1157=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234717G>C | CA413139979 | IQSEC2 | c.4128C>G (p.His1376Gln) c.1453+1066C>G c.962+1066C>G c.316+1605C>G (n.316+1605C>G) c.514+1605C>G (n.514+1605C>G) c.*454C>G (n.*454C>G) c.3969C>G (p.His1323Gln) c.3939C>G (p.His1313Gln) c.4065C>G (p.His1355Gln) c.3354C>G (p.His1118Gln) c.3597+1066C>G (n.3597+1066C>G) c.3547+1605C>G (n.3547+1605C>G) c.3291C>G (p.His1097Gln) c.3258C>G (p.His1086Gln) c.3471C>G (p.His1157Gln) | |
X | g.53234717G= | CA2429770568 | IQSEC2 | c.4128C= (p.His1376=) c.1453+1066C= c.962+1066C= c.316+1605C= (n.316+1605C=) c.514+1605C= (n.514+1605C=) c.*454C= (n.*454C=) c.3969C= (p.His1323=) c.3939C= (p.His1313=) c.4065C= (p.His1355=) c.3354C= (p.His1118=) c.3597+1066C= (n.3597+1066C=) c.3547+1605C= (n.3547+1605C=) c.3291C= (p.His1097=) c.3258C= (p.His1086=) c.3471C= (p.His1157=) | |
X | g.53234717G>T | CA413139980 | IQSEC2 | c.4128C>A (p.His1376Gln) c.1453+1066C>A c.962+1066C>A c.316+1605C>A (n.316+1605C>A) c.514+1605C>A (n.514+1605C>A) c.*454C>A (n.*454C>A) c.3969C>A (p.His1323Gln) c.3939C>A (p.His1313Gln) c.4065C>A (p.His1355Gln) c.3354C>A (p.His1118Gln) c.3597+1066C>A (n.3597+1066C>A) c.3547+1605C>A (n.3547+1605C>A) c.3291C>A (p.His1097Gln) c.3258C>A (p.His1086Gln) c.3471C>A (p.His1157Gln) | |
X | g.53234718T>A | CA413139982 | IQSEC2 | c.4127A>T (p.His1376Leu) c.1453+1065A>T c.962+1065A>T c.316+1604A>T (n.316+1604A>T) c.514+1604A>T (n.514+1604A>T) c.*453A>T (n.*453A>T) c.3968A>T (p.His1323Leu) c.3938A>T (p.His1313Leu) c.4064A>T (p.His1355Leu) c.3353A>T (p.His1118Leu) c.3597+1065A>T (n.3597+1065A>T) c.3547+1604A>T (n.3547+1604A>T) c.3290A>T (p.His1097Leu) c.3257A>T (p.His1086Leu) c.3470A>T (p.His1157Leu) | |
X | g.53234718T>C | CA413139985 | IQSEC2 | c.4127A>G (p.His1376Arg) c.1453+1065A>G c.962+1065A>G c.316+1604A>G (n.316+1604A>G) c.514+1604A>G (n.514+1604A>G) c.*453A>G (n.*453A>G) c.3968A>G (p.His1323Arg) c.3938A>G (p.His1313Arg) c.4064A>G (p.His1355Arg) c.3353A>G (p.His1118Arg) c.3597+1065A>G (n.3597+1065A>G) c.3547+1604A>G (n.3547+1604A>G) c.3290A>G (p.His1097Arg) c.3257A>G (p.His1086Arg) c.3470A>G (p.His1157Arg) | |
X | g.53234718T>G | CA413139984 | IQSEC2 | c.4127A>C (p.His1376Pro) c.1453+1065A>C c.962+1065A>C c.316+1604A>C (n.316+1604A>C) c.514+1604A>C (n.514+1604A>C) c.*453A>C (n.*453A>C) c.3968A>C (p.His1323Pro) c.3938A>C (p.His1313Pro) c.4064A>C (p.His1355Pro) c.3353A>C (p.His1118Pro) c.3597+1065A>C (n.3597+1065A>C) c.3547+1604A>C (n.3547+1604A>C) c.3290A>C (p.His1097Pro) c.3257A>C (p.His1086Pro) c.3470A>C (p.His1157Pro) | |
X | g.53234719G>A | CA413139987 | IQSEC2 | c.4126C>T (p.His1376Tyr) c.1453+1064C>T c.962+1064C>T c.316+1603C>T (n.316+1603C>T) c.514+1603C>T (n.514+1603C>T) c.*452C>T (n.*452C>T) c.3967C>T (p.His1323Tyr) c.3937C>T (p.His1313Tyr) c.4063C>T (p.His1355Tyr) c.3352C>T (p.His1118Tyr) c.3597+1064C>T (n.3597+1064C>T) c.3547+1603C>T (n.3547+1603C>T) c.3289C>T (p.His1097Tyr) c.3256C>T (p.His1086Tyr) c.3469C>T (p.His1157Tyr) | |
X | g.53234719G>C | CA413139988 | IQSEC2 | c.4126C>G (p.His1376Asp) c.1453+1064C>G c.962+1064C>G c.316+1603C>G (n.316+1603C>G) c.514+1603C>G (n.514+1603C>G) c.*452C>G (n.*452C>G) c.3967C>G (p.His1323Asp) c.3937C>G (p.His1313Asp) c.4063C>G (p.His1355Asp) c.3352C>G (p.His1118Asp) c.3597+1064C>G (n.3597+1064C>G) c.3547+1603C>G (n.3547+1603C>G) c.3289C>G (p.His1097Asp) c.3256C>G (p.His1086Asp) c.3469C>G (p.His1157Asp) | |
X | g.53234719G>T | CA413139989 | IQSEC2 | c.4126C>A (p.His1376Asn) c.1453+1064C>A c.962+1064C>A c.316+1603C>A (n.316+1603C>A) c.514+1603C>A (n.514+1603C>A) c.*452C>A (n.*452C>A) c.3967C>A (p.His1323Asn) c.3937C>A (p.His1313Asn) c.4063C>A (p.His1355Asn) c.3352C>A (p.His1118Asn) c.3597+1064C>A (n.3597+1064C>A) c.3547+1603C>A (n.3547+1603C>A) c.3289C>A (p.His1097Asn) c.3256C>A (p.His1086Asn) c.3469C>A (p.His1157Asn) | |
X | g.53234720G>A | CA516673521 | IQSEC2 | c.4125C>T (p.Phe1375=) c.1453+1063C>T c.962+1063C>T c.316+1602C>T (n.316+1602C>T) c.514+1602C>T (n.514+1602C>T) c.*451C>T (n.*451C>T) c.3966C>T (p.Phe1322=) c.3936C>T (p.Phe1312=) c.4062C>T (p.Phe1354=) c.3351C>T (p.Phe1117=) c.3597+1063C>T (n.3597+1063C>T) c.3547+1602C>T (n.3547+1602C>T) c.3288C>T (p.Phe1096=) c.3255C>T (p.Phe1085=) c.3468C>T (p.Phe1156=) | |
X | g.53234720G>C | CA413139991 | IQSEC2 | c.4125C>G (p.Phe1375Leu) c.1453+1063C>G c.962+1063C>G c.316+1602C>G (n.316+1602C>G) c.514+1602C>G (n.514+1602C>G) c.*451C>G (n.*451C>G) c.3966C>G (p.Phe1322Leu) c.3936C>G (p.Phe1312Leu) c.4062C>G (p.Phe1354Leu) c.3351C>G (p.Phe1117Leu) c.3597+1063C>G (n.3597+1063C>G) c.3547+1602C>G (n.3547+1602C>G) c.3288C>G (p.Phe1096Leu) c.3255C>G (p.Phe1085Leu) c.3468C>G (p.Phe1156Leu) | |
X | g.53234720G>T | CA413139993 | IQSEC2 | c.4125C>A (p.Phe1375Leu) c.1453+1063C>A c.962+1063C>A c.316+1602C>A (n.316+1602C>A) c.514+1602C>A (n.514+1602C>A) c.*451C>A (n.*451C>A) c.3966C>A (p.Phe1322Leu) c.3936C>A (p.Phe1312Leu) c.4062C>A (p.Phe1354Leu) c.3351C>A (p.Phe1117Leu) c.3597+1063C>A (n.3597+1063C>A) c.3547+1602C>A (n.3547+1602C>A) c.3288C>A (p.Phe1096Leu) c.3255C>A (p.Phe1085Leu) c.3468C>A (p.Phe1156Leu) | |
X | g.53234721A>C | CA413139995 | IQSEC2 | c.4124T>G (p.Phe1375Cys) c.1453+1062T>G c.962+1062T>G c.316+1601T>G (n.316+1601T>G) c.514+1601T>G (n.514+1601T>G) c.*450T>G (n.*450T>G) c.3965T>G (p.Phe1322Cys) c.3935T>G (p.Phe1312Cys) c.4061T>G (p.Phe1354Cys) c.3350T>G (p.Phe1117Cys) c.3597+1062T>G (n.3597+1062T>G) c.3547+1601T>G (n.3547+1601T>G) c.3287T>G (p.Phe1096Cys) c.3254T>G (p.Phe1085Cys) c.3467T>G (p.Phe1156Cys) | |
X | g.53234721A>G | CA413139996 | IQSEC2 | c.4124T>C (p.Phe1375Ser) c.1453+1062T>C c.962+1062T>C c.316+1601T>C (n.316+1601T>C) c.514+1601T>C (n.514+1601T>C) c.*450T>C (n.*450T>C) c.3965T>C (p.Phe1322Ser) c.3935T>C (p.Phe1312Ser) c.4061T>C (p.Phe1354Ser) c.3350T>C (p.Phe1117Ser) c.3597+1062T>C (n.3597+1062T>C) c.3547+1601T>C (n.3547+1601T>C) c.3287T>C (p.Phe1096Ser) c.3254T>C (p.Phe1085Ser) c.3467T>C (p.Phe1156Ser) | gnomAD v4 |
X | g.53234721A>T | CA413139997 | IQSEC2 | c.4124T>A (p.Phe1375Tyr) c.1453+1062T>A c.962+1062T>A c.316+1601T>A (n.316+1601T>A) c.514+1601T>A (n.514+1601T>A) c.*450T>A (n.*450T>A) c.3965T>A (p.Phe1322Tyr) c.3935T>A (p.Phe1312Tyr) c.4061T>A (p.Phe1354Tyr) c.3350T>A (p.Phe1117Tyr) c.3597+1062T>A (n.3597+1062T>A) c.3547+1601T>A (n.3547+1601T>A) c.3287T>A (p.Phe1096Tyr) c.3254T>A (p.Phe1085Tyr) c.3467T>A (p.Phe1156Tyr) | |
X | g.53234722A>C | CA413139999 | IQSEC2 | c.4123T>G (p.Phe1375Val) c.1453+1061T>G c.962+1061T>G c.316+1600T>G (n.316+1600T>G) c.514+1600T>G (n.514+1600T>G) c.*449T>G (n.*449T>G) c.3964T>G (p.Phe1322Val) c.3934T>G (p.Phe1312Val) c.4060T>G (p.Phe1354Val) c.3349T>G (p.Phe1117Val) c.3597+1061T>G (n.3597+1061T>G) c.3547+1600T>G (n.3547+1600T>G) c.3286T>G (p.Phe1096Val) c.3253T>G (p.Phe1085Val) c.3466T>G (p.Phe1156Val) | |
X | g.53234722A>G | CA413140001 | IQSEC2 | c.4123T>C (p.Phe1375Leu) c.1453+1061T>C c.962+1061T>C c.316+1600T>C (n.316+1600T>C) c.514+1600T>C (n.514+1600T>C) c.*449T>C (n.*449T>C) c.3964T>C (p.Phe1322Leu) c.3934T>C (p.Phe1312Leu) c.4060T>C (p.Phe1354Leu) c.3349T>C (p.Phe1117Leu) c.3597+1061T>C (n.3597+1061T>C) c.3547+1600T>C (n.3547+1600T>C) c.3286T>C (p.Phe1096Leu) c.3253T>C (p.Phe1085Leu) c.3466T>C (p.Phe1156Leu) | |
X | g.53234722A>T | CA413140002 | IQSEC2 | c.4123T>A (p.Phe1375Ile) c.1453+1061T>A c.962+1061T>A c.316+1600T>A (n.316+1600T>A) c.514+1600T>A (n.514+1600T>A) c.*449T>A (n.*449T>A) c.3964T>A (p.Phe1322Ile) c.3934T>A (p.Phe1312Ile) c.4060T>A (p.Phe1354Ile) c.3349T>A (p.Phe1117Ile) c.3597+1061T>A (n.3597+1061T>A) c.3547+1600T>A (n.3547+1600T>A) c.3286T>A (p.Phe1096Ile) c.3253T>A (p.Phe1085Ile) c.3466T>A (p.Phe1156Ile) | |
X | g.53234723G>A | CA516673526 | IQSEC2 | c.4122C>T (p.His1374=) c.1453+1060C>T c.962+1060C>T c.316+1599C>T (n.316+1599C>T) c.514+1599C>T (n.514+1599C>T) c.*448C>T (n.*448C>T) c.3963C>T (p.His1321=) c.3933C>T (p.His1311=) c.4059C>T (p.His1353=) c.3348C>T (p.His1116=) c.3597+1060C>T (n.3597+1060C>T) c.3547+1599C>T (n.3547+1599C>T) c.3285C>T (p.His1095=) c.3252C>T (p.His1084=) c.3465C>T (p.His1155=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53234723G>C | CA413140004 | IQSEC2 | c.4122C>G (p.His1374Gln) c.1453+1060C>G c.962+1060C>G c.316+1599C>G (n.316+1599C>G) c.514+1599C>G (n.514+1599C>G) c.*448C>G (n.*448C>G) c.3963C>G (p.His1321Gln) c.3933C>G (p.His1311Gln) c.4059C>G (p.His1353Gln) c.3348C>G (p.His1116Gln) c.3597+1060C>G (n.3597+1060C>G) c.3547+1599C>G (n.3547+1599C>G) c.3285C>G (p.His1095Gln) c.3252C>G (p.His1084Gln) c.3465C>G (p.His1155Gln) | |
X | g.53234723G= | CA2429770569 | IQSEC2 | c.4122C= (p.His1374=) c.1453+1060C= c.962+1060C= c.316+1599C= (n.316+1599C=) c.514+1599C= (n.514+1599C=) c.*448C= (n.*448C=) c.3963C= (p.His1321=) c.3933C= (p.His1311=) c.4059C= (p.His1353=) c.3348C= (p.His1116=) c.3597+1060C= (n.3597+1060C=) c.3547+1599C= (n.3547+1599C=) c.3285C= (p.His1095=) c.3252C= (p.His1084=) c.3465C= (p.His1155=) | |
X | g.53234723G>T | CA413140006 | IQSEC2 | c.4122C>A (p.His1374Gln) c.1453+1060C>A c.962+1060C>A c.316+1599C>A (n.316+1599C>A) c.514+1599C>A (n.514+1599C>A) c.*448C>A (n.*448C>A) c.3963C>A (p.His1321Gln) c.3933C>A (p.His1311Gln) c.4059C>A (p.His1353Gln) c.3348C>A (p.His1116Gln) c.3597+1060C>A (n.3597+1060C>A) c.3547+1599C>A (n.3547+1599C>A) c.3285C>A (p.His1095Gln) c.3252C>A (p.His1084Gln) c.3465C>A (p.His1155Gln) | |
X | g.53234724T>A | CA413140010 | IQSEC2 | c.4121A>T (p.His1374Leu) c.1453+1059A>T c.962+1059A>T c.316+1598A>T (n.316+1598A>T) c.514+1598A>T (n.514+1598A>T) c.*447A>T (n.*447A>T) c.3962A>T (p.His1321Leu) c.3932A>T (p.His1311Leu) c.4058A>T (p.His1353Leu) c.3347A>T (p.His1116Leu) c.3597+1059A>T (n.3597+1059A>T) c.3547+1598A>T (n.3547+1598A>T) c.3284A>T (p.His1095Leu) c.3251A>T (p.His1084Leu) c.3464A>T (p.His1155Leu) | |
X | g.53234724T>C | CA413140008 | IQSEC2 | c.4121A>G (p.His1374Arg) c.1453+1059A>G c.962+1059A>G c.316+1598A>G (n.316+1598A>G) c.514+1598A>G (n.514+1598A>G) c.*447A>G (n.*447A>G) c.3962A>G (p.His1321Arg) c.3932A>G (p.His1311Arg) c.4058A>G (p.His1353Arg) c.3347A>G (p.His1116Arg) c.3597+1059A>G (n.3597+1059A>G) c.3547+1598A>G (n.3547+1598A>G) c.3284A>G (p.His1095Arg) c.3251A>G (p.His1084Arg) c.3464A>G (p.His1155Arg) | |
X | g.53234724T>G | CA413140009 | IQSEC2 | c.4121A>C (p.His1374Pro) c.1453+1059A>C c.962+1059A>C c.316+1598A>C (n.316+1598A>C) c.514+1598A>C (n.514+1598A>C) c.*447A>C (n.*447A>C) c.3962A>C (p.His1321Pro) c.3932A>C (p.His1311Pro) c.4058A>C (p.His1353Pro) c.3347A>C (p.His1116Pro) c.3597+1059A>C (n.3597+1059A>C) c.3547+1598A>C (n.3547+1598A>C) c.3284A>C (p.His1095Pro) c.3251A>C (p.His1084Pro) c.3464A>C (p.His1155Pro) | |
X | g.53234725G>A | CA413140012 | IQSEC2 | c.4120C>T (p.His1374Tyr) c.1453+1058C>T c.962+1058C>T c.316+1597C>T (n.316+1597C>T) c.514+1597C>T (n.514+1597C>T) c.*446C>T (n.*446C>T) c.3961C>T (p.His1321Tyr) c.3931C>T (p.His1311Tyr) c.4057C>T (p.His1353Tyr) c.3346C>T (p.His1116Tyr) c.3597+1058C>T (n.3597+1058C>T) c.3547+1597C>T (n.3547+1597C>T) c.3283C>T (p.His1095Tyr) c.3250C>T (p.His1084Tyr) c.3463C>T (p.His1155Tyr) | gnomAD v4 |
X | g.53234725G>C | CA413140014 | IQSEC2 | c.4120C>G (p.His1374Asp) c.1453+1058C>G c.962+1058C>G c.316+1597C>G (n.316+1597C>G) c.514+1597C>G (n.514+1597C>G) c.*446C>G (n.*446C>G) c.3961C>G (p.His1321Asp) c.3931C>G (p.His1311Asp) c.4057C>G (p.His1353Asp) c.3346C>G (p.His1116Asp) c.3597+1058C>G (n.3597+1058C>G) c.3547+1597C>G (n.3547+1597C>G) c.3283C>G (p.His1095Asp) c.3250C>G (p.His1084Asp) c.3463C>G (p.His1155Asp) | |
X | g.53234725G>T | CA413140016 | IQSEC2 | c.4120C>A (p.His1374Asn) c.1453+1058C>A c.962+1058C>A c.316+1597C>A (n.316+1597C>A) c.514+1597C>A (n.514+1597C>A) c.*446C>A (n.*446C>A) c.3961C>A (p.His1321Asn) c.3931C>A (p.His1311Asn) c.4057C>A (p.His1353Asn) c.3346C>A (p.His1116Asn) c.3597+1058C>A (n.3597+1058C>A) c.3547+1597C>A (n.3547+1597C>A) c.3283C>A (p.His1095Asn) c.3250C>A (p.His1084Asn) c.3463C>A (p.His1155Asn) | gnomAD v4 |
X | g.53234726del | CA2820950159 | IQSEC2 | c.4120del (p.His1374ThrfsTer?) c.1453+1058del c.962+1058del c.316+1597del (n.316+1597del) c.514+1597del (n.514+1597del) c.*446del (n.*446del) c.3961del (p.His1321ThrfsTer?) c.3931del (p.His1311ThrfsTer?) c.4057del (p.His1353ThrfsTer?) c.3346del (p.His1116ThrfsTer?) c.3597+1058del (n.3597+1058del) c.3547+1597del (n.3547+1597del) c.3283del (p.His1095ThrfsTer?) c.3250del (p.His1084ThrfsTer?) c.3463del (p.His1155ThrfsTer?) | |
X | g.53234726G>A | CA516673530 | IQSEC2 | c.4119C>T (p.Arg1373=) c.1453+1057C>T c.962+1057C>T c.316+1596C>T (n.316+1596C>T) c.514+1596C>T (n.514+1596C>T) c.*445C>T (n.*445C>T) c.3960C>T (p.Arg1320=) c.3930C>T (p.Arg1310=) c.4056C>T (p.Arg1352=) c.3345C>T (p.Arg1115=) c.3597+1057C>T (n.3597+1057C>T) c.3547+1596C>T (n.3547+1596C>T) c.3282C>T (p.Arg1094=) c.3249C>T (p.Arg1083=) c.3462C>T (p.Arg1154=) | |
X | g.53234726G>C | CA516673531 | IQSEC2 | c.4119C>G (p.Arg1373=) c.1453+1057C>G c.962+1057C>G c.316+1596C>G (n.316+1596C>G) c.514+1596C>G (n.514+1596C>G) c.*445C>G (n.*445C>G) c.3960C>G (p.Arg1320=) c.3930C>G (p.Arg1310=) c.4056C>G (p.Arg1352=) c.3345C>G (p.Arg1115=) c.3597+1057C>G (n.3597+1057C>G) c.3547+1596C>G (n.3547+1596C>G) c.3282C>G (p.Arg1094=) c.3249C>G (p.Arg1083=) c.3462C>G (p.Arg1154=) | |
X | g.53234726G>T | CA516673532 | IQSEC2 | c.4119C>A (p.Arg1373=) c.1453+1057C>A c.962+1057C>A c.316+1596C>A (n.316+1596C>A) c.514+1596C>A (n.514+1596C>A) c.*445C>A (n.*445C>A) c.3960C>A (p.Arg1320=) c.3930C>A (p.Arg1310=) c.4056C>A (p.Arg1352=) c.3345C>A (p.Arg1115=) c.3597+1057C>A (n.3597+1057C>A) c.3547+1596C>A (n.3547+1596C>A) c.3282C>A (p.Arg1094=) c.3249C>A (p.Arg1083=) c.3462C>A (p.Arg1154=) | gnomAD v4 |
X | g.53234727C>A | CA413140018 | IQSEC2 | c.4118G>T (p.Arg1373Leu) c.1453+1056G>T c.962+1056G>T c.316+1595G>T (n.316+1595G>T) c.514+1595G>T (n.514+1595G>T) c.*444G>T (n.*444G>T) c.3959G>T (p.Arg1320Leu) c.3929G>T (p.Arg1310Leu) c.4055G>T (p.Arg1352Leu) c.3344G>T (p.Arg1115Leu) c.3597+1056G>T (n.3597+1056G>T) c.3547+1595G>T (n.3547+1595G>T) c.3281G>T (p.Arg1094Leu) c.3248G>T (p.Arg1083Leu) c.3461G>T (p.Arg1154Leu) | gnomAD v4 |
X | g.53234727C= | CA2429770570 | IQSEC2 | c.4118G= (p.Arg1373=) c.1453+1056G= c.962+1056G= c.316+1595G= (n.316+1595G=) c.514+1595G= (n.514+1595G=) c.*444G= (n.*444G=) c.3959G= (p.Arg1320=) c.3929G= (p.Arg1310=) c.4055G= (p.Arg1352=) c.3344G= (p.Arg1115=) c.3597+1056G= (n.3597+1056G=) c.3547+1595G= (n.3547+1595G=) c.3281G= (p.Arg1094=) c.3248G= (p.Arg1083=) c.3461G= (p.Arg1154=) | |
X | g.53234727C>G | CA413140019 | IQSEC2 | c.4118G>C (p.Arg1373Pro) c.1453+1056G>C c.962+1056G>C c.316+1595G>C (n.316+1595G>C) c.514+1595G>C (n.514+1595G>C) c.*444G>C (n.*444G>C) c.3959G>C (p.Arg1320Pro) c.3929G>C (p.Arg1310Pro) c.4055G>C (p.Arg1352Pro) c.3344G>C (p.Arg1115Pro) c.3597+1056G>C (n.3597+1056G>C) c.3547+1595G>C (n.3547+1595G>C) c.3281G>C (p.Arg1094Pro) c.3248G>C (p.Arg1083Pro) c.3461G>C (p.Arg1154Pro) | gnomAD v4 |
X | g.53234727C>T | CA413140021 | IQSEC2 | c.4118G>A (p.Arg1373His) c.1453+1056G>A c.962+1056G>A c.316+1595G>A (n.316+1595G>A) c.514+1595G>A (n.514+1595G>A) c.*444G>A (n.*444G>A) c.3959G>A (p.Arg1320His) c.3929G>A (p.Arg1310His) c.4055G>A (p.Arg1352His) c.3344G>A (p.Arg1115His) c.3597+1056G>A (n.3597+1056G>A) c.3547+1595G>A (n.3547+1595G>A) c.3281G>A (p.Arg1094His) c.3248G>A (p.Arg1083His) c.3461G>A (p.Arg1154His) | ClinVar dbSNP gnomAD v4 |
X | g.53234728G>A | CA413140023 | IQSEC2 | c.4117C>T (p.Arg1373Cys) c.1453+1055C>T c.962+1055C>T c.316+1594C>T (n.316+1594C>T) c.514+1594C>T (n.514+1594C>T) c.*443C>T (n.*443C>T) c.3958C>T (p.Arg1320Cys) c.3928C>T (p.Arg1310Cys) c.4054C>T (p.Arg1352Cys) c.3343C>T (p.Arg1115Cys) c.3597+1055C>T (n.3597+1055C>T) c.3547+1594C>T (n.3547+1594C>T) c.3280C>T (p.Arg1094Cys) c.3247C>T (p.Arg1083Cys) c.3460C>T (p.Arg1154Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53234728G>C | CA413140024 | IQSEC2 | c.4117C>G (p.Arg1373Gly) c.1453+1055C>G c.962+1055C>G c.316+1594C>G (n.316+1594C>G) c.514+1594C>G (n.514+1594C>G) c.*443C>G (n.*443C>G) c.3958C>G (p.Arg1320Gly) c.3928C>G (p.Arg1310Gly) c.4054C>G (p.Arg1352Gly) c.3343C>G (p.Arg1115Gly) c.3597+1055C>G (n.3597+1055C>G) c.3547+1594C>G (n.3547+1594C>G) c.3280C>G (p.Arg1094Gly) c.3247C>G (p.Arg1083Gly) c.3460C>G (p.Arg1154Gly) | |
X | g.53234728G= | CA2429770571 | IQSEC2 | c.4117C= (p.Arg1373=) c.1453+1055C= c.962+1055C= c.316+1594C= (n.316+1594C=) c.514+1594C= (n.514+1594C=) c.*443C= (n.*443C=) c.3958C= (p.Arg1320=) c.3928C= (p.Arg1310=) c.4054C= (p.Arg1352=) c.3343C= (p.Arg1115=) c.3597+1055C= (n.3597+1055C=) c.3547+1594C= (n.3547+1594C=) c.3280C= (p.Arg1094=) c.3247C= (p.Arg1083=) c.3460C= (p.Arg1154=) | |
X | g.53234728G>T | CA413140026 | IQSEC2 | c.4117C>A (p.Arg1373Ser) c.1453+1055C>A c.962+1055C>A c.316+1594C>A (n.316+1594C>A) c.514+1594C>A (n.514+1594C>A) c.*443C>A (n.*443C>A) c.3958C>A (p.Arg1320Ser) c.3928C>A (p.Arg1310Ser) c.4054C>A (p.Arg1352Ser) c.3343C>A (p.Arg1115Ser) c.3597+1055C>A (n.3597+1055C>A) c.3547+1594C>A (n.3547+1594C>A) c.3280C>A (p.Arg1094Ser) c.3247C>A (p.Arg1083Ser) c.3460C>A (p.Arg1154Ser) | gnomAD v4 |
X | g.53234729A>C | CA413140028 | IQSEC2 | c.4116T>G (p.His1372Gln) c.1453+1054T>G c.962+1054T>G c.316+1593T>G (n.316+1593T>G) c.514+1593T>G (n.514+1593T>G) c.*442T>G (n.*442T>G) c.3957T>G (p.His1319Gln) c.3927T>G (p.His1309Gln) c.4053T>G (p.His1351Gln) c.3342T>G (p.His1114Gln) c.3597+1054T>G (n.3597+1054T>G) c.3547+1593T>G (n.3547+1593T>G) c.3279T>G (p.His1093Gln) c.3246T>G (p.His1082Gln) c.3459T>G (p.His1153Gln) | gnomAD v4 |
X | g.53234729A>G | CA516673536 | IQSEC2 | c.4116T>C (p.His1372=) c.1453+1054T>C c.962+1054T>C c.316+1593T>C (n.316+1593T>C) c.514+1593T>C (n.514+1593T>C) c.*442T>C (n.*442T>C) c.3957T>C (p.His1319=) c.3927T>C (p.His1309=) c.4053T>C (p.His1351=) c.3342T>C (p.His1114=) c.3597+1054T>C (n.3597+1054T>C) c.3547+1593T>C (n.3547+1593T>C) c.3279T>C (p.His1093=) c.3246T>C (p.His1082=) c.3459T>C (p.His1153=) | gnomAD v4 |
X | g.53234729A>T | CA413140029 | IQSEC2 | c.4116T>A (p.His1372Gln) c.1453+1054T>A c.962+1054T>A c.316+1593T>A (n.316+1593T>A) c.514+1593T>A (n.514+1593T>A) c.*442T>A (n.*442T>A) c.3957T>A (p.His1319Gln) c.3927T>A (p.His1309Gln) c.4053T>A (p.His1351Gln) c.3342T>A (p.His1114Gln) c.3597+1054T>A (n.3597+1054T>A) c.3547+1593T>A (n.3547+1593T>A) c.3279T>A (p.His1093Gln) c.3246T>A (p.His1082Gln) c.3459T>A (p.His1153Gln) | |
X | g.53234729dup | CA2843565908 | IQSEC2 | c.4116dup (p.Arg1373SerfsTer?) c.1453+1054dup c.962+1054dup c.316+1593dup (n.316+1593dup) c.514+1593dup (n.514+1593dup) c.*442dup (n.*442dup) c.3957dup (p.Arg1320SerfsTer?) c.3927dup (p.Arg1310SerfsTer?) c.4053dup (p.Arg1352SerfsTer?) c.3342dup (p.Arg1115SerfsTer?) c.3597+1054dup (n.3597+1054dup) c.3547+1593dup (n.3547+1593dup) c.3279dup (p.Arg1094SerfsTer?) c.3246dup (p.Arg1083SerfsTer?) c.3459dup (p.Arg1154SerfsTer?) | |
X | g.53234730T>A | CA413140031 | IQSEC2 | c.4115A>T (p.His1372Leu) c.1453+1053A>T c.962+1053A>T c.316+1592A>T (n.316+1592A>T) c.514+1592A>T (n.514+1592A>T) c.*441A>T (n.*441A>T) c.3956A>T (p.His1319Leu) c.3926A>T (p.His1309Leu) c.4052A>T (p.His1351Leu) c.3341A>T (p.His1114Leu) c.3597+1053A>T (n.3597+1053A>T) c.3547+1592A>T (n.3547+1592A>T) c.3278A>T (p.His1093Leu) c.3245A>T (p.His1082Leu) c.3458A>T (p.His1153Leu) | |
X | g.53234730T>C | CA413140034 | IQSEC2 | c.4115A>G (p.His1372Arg) c.1453+1053A>G c.962+1053A>G c.316+1592A>G (n.316+1592A>G) c.514+1592A>G (n.514+1592A>G) c.*441A>G (n.*441A>G) c.3956A>G (p.His1319Arg) c.3926A>G (p.His1309Arg) c.4052A>G (p.His1351Arg) c.3341A>G (p.His1114Arg) c.3597+1053A>G (n.3597+1053A>G) c.3547+1592A>G (n.3547+1592A>G) c.3278A>G (p.His1093Arg) c.3245A>G (p.His1082Arg) c.3458A>G (p.His1153Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53234730T>G | CA413140032 | IQSEC2 | c.4115A>C (p.His1372Pro) c.1453+1053A>C c.962+1053A>C c.316+1592A>C (n.316+1592A>C) c.514+1592A>C (n.514+1592A>C) c.*441A>C (n.*441A>C) c.3956A>C (p.His1319Pro) c.3926A>C (p.His1309Pro) c.4052A>C (p.His1351Pro) c.3341A>C (p.His1114Pro) c.3597+1053A>C (n.3597+1053A>C) c.3547+1592A>C (n.3547+1592A>C) c.3278A>C (p.His1093Pro) c.3245A>C (p.His1082Pro) c.3458A>C (p.His1153Pro) | |
X | g.53234730T= | CA2429770572 | IQSEC2 | c.4115A= (p.His1372=) c.1453+1053A= c.962+1053A= c.316+1592A= (n.316+1592A=) c.514+1592A= (n.514+1592A=) c.*441A= (n.*441A=) c.3956A= (p.His1319=) c.3926A= (p.His1309=) c.4052A= (p.His1351=) c.3341A= (p.His1114=) c.3597+1053A= (n.3597+1053A=) c.3547+1592A= (n.3547+1592A=) c.3278A= (p.His1093=) c.3245A= (p.His1082=) c.3458A= (p.His1153=) | |
X | g.53234731G>A | CA413140036 | IQSEC2 | c.4114C>T (p.His1372Tyr) c.1453+1052C>T c.962+1052C>T c.316+1591C>T (n.316+1591C>T) c.514+1591C>T (n.514+1591C>T) c.*440C>T (n.*440C>T) c.3955C>T (p.His1319Tyr) c.3925C>T (p.His1309Tyr) c.4051C>T (p.His1351Tyr) c.3340C>T (p.His1114Tyr) c.3597+1052C>T (n.3597+1052C>T) c.3547+1591C>T (n.3547+1591C>T) c.3277C>T (p.His1093Tyr) c.3244C>T (p.His1082Tyr) c.3457C>T (p.His1153Tyr) | |
X | g.53234731G>C | CA413140039 | IQSEC2 | c.4114C>G (p.His1372Asp) c.1453+1052C>G c.962+1052C>G c.316+1591C>G (n.316+1591C>G) c.514+1591C>G (n.514+1591C>G) c.*440C>G (n.*440C>G) c.3955C>G (p.His1319Asp) c.3925C>G (p.His1309Asp) c.4051C>G (p.His1351Asp) c.3340C>G (p.His1114Asp) c.3597+1052C>G (n.3597+1052C>G) c.3547+1591C>G (n.3547+1591C>G) c.3277C>G (p.His1093Asp) c.3244C>G (p.His1082Asp) c.3457C>G (p.His1153Asp) | |
X | g.53234731G>T | CA413140037 | IQSEC2 | c.4114C>A (p.His1372Asn) c.1453+1052C>A c.962+1052C>A c.316+1591C>A (n.316+1591C>A) c.514+1591C>A (n.514+1591C>A) c.*440C>A (n.*440C>A) c.3955C>A (p.His1319Asn) c.3925C>A (p.His1309Asn) c.4051C>A (p.His1351Asn) c.3340C>A (p.His1114Asn) c.3597+1052C>A (n.3597+1052C>A) c.3547+1591C>A (n.3547+1591C>A) c.3277C>A (p.His1093Asn) c.3244C>A (p.His1082Asn) c.3457C>A (p.His1153Asn) | gnomAD v4 |
X | g.53234732T>A | CA516673538 | IQSEC2 | c.4113A>T (p.Pro1371=) c.1453+1051A>T c.962+1051A>T c.316+1590A>T (n.316+1590A>T) c.514+1590A>T (n.514+1590A>T) c.*439A>T (n.*439A>T) c.3954A>T (p.Pro1318=) c.3924A>T (p.Pro1308=) c.4050A>T (p.Pro1350=) c.3339A>T (p.Pro1113=) c.3597+1051A>T (n.3597+1051A>T) c.3547+1590A>T (n.3547+1590A>T) c.3276A>T (p.Pro1092=) c.3243A>T (p.Pro1081=) c.3456A>T (p.Pro1152=) | |
X | g.53234732T>C | CA516673539 | IQSEC2 | c.4113A>G (p.Pro1371=) c.1453+1051A>G c.962+1051A>G c.316+1590A>G (n.316+1590A>G) c.514+1590A>G (n.514+1590A>G) c.*439A>G (n.*439A>G) c.3954A>G (p.Pro1318=) c.3924A>G (p.Pro1308=) c.4050A>G (p.Pro1350=) c.3339A>G (p.Pro1113=) c.3597+1051A>G (n.3597+1051A>G) c.3547+1590A>G (n.3547+1590A>G) c.3276A>G (p.Pro1092=) c.3243A>G (p.Pro1081=) c.3456A>G (p.Pro1152=) | |
X | g.53234732T>G | CA516673540 | IQSEC2 | c.4113A>C (p.Pro1371=) c.1453+1051A>C c.962+1051A>C c.316+1590A>C (n.316+1590A>C) c.514+1590A>C (n.514+1590A>C) c.*439A>C (n.*439A>C) c.3954A>C (p.Pro1318=) c.3924A>C (p.Pro1308=) c.4050A>C (p.Pro1350=) c.3339A>C (p.Pro1113=) c.3597+1051A>C (n.3597+1051A>C) c.3547+1590A>C (n.3547+1590A>C) c.3276A>C (p.Pro1092=) c.3243A>C (p.Pro1081=) c.3456A>C (p.Pro1152=) | |
X | g.53234733G>A | CA413140040 | IQSEC2 | c.4112C>T (p.Pro1371Leu) c.1453+1050C>T c.962+1050C>T c.316+1589C>T (n.316+1589C>T) c.514+1589C>T (n.514+1589C>T) c.*438C>T (n.*438C>T) c.3953C>T (p.Pro1318Leu) c.3923C>T (p.Pro1308Leu) c.4049C>T (p.Pro1350Leu) c.3338C>T (p.Pro1113Leu) c.3597+1050C>T (n.3597+1050C>T) c.3547+1589C>T (n.3547+1589C>T) c.3275C>T (p.Pro1092Leu) c.3242C>T (p.Pro1081Leu) c.3455C>T (p.Pro1152Leu) | gnomAD v4 |
X | g.53234733G>C | CA413140041 | IQSEC2 | c.4112C>G (p.Pro1371Arg) c.1453+1050C>G c.962+1050C>G c.316+1589C>G (n.316+1589C>G) c.514+1589C>G (n.514+1589C>G) c.*438C>G (n.*438C>G) c.3953C>G (p.Pro1318Arg) c.3923C>G (p.Pro1308Arg) c.4049C>G (p.Pro1350Arg) c.3338C>G (p.Pro1113Arg) c.3597+1050C>G (n.3597+1050C>G) c.3547+1589C>G (n.3547+1589C>G) c.3275C>G (p.Pro1092Arg) c.3242C>G (p.Pro1081Arg) c.3455C>G (p.Pro1152Arg) | |
X | g.53234733G>T | CA413140042 | IQSEC2 | c.4112C>A (p.Pro1371Gln) c.1453+1050C>A c.962+1050C>A c.316+1589C>A (n.316+1589C>A) c.514+1589C>A (n.514+1589C>A) c.*438C>A (n.*438C>A) c.3953C>A (p.Pro1318Gln) c.3923C>A (p.Pro1308Gln) c.4049C>A (p.Pro1350Gln) c.3338C>A (p.Pro1113Gln) c.3597+1050C>A (n.3597+1050C>A) c.3547+1589C>A (n.3547+1589C>A) c.3275C>A (p.Pro1092Gln) c.3242C>A (p.Pro1081Gln) c.3455C>A (p.Pro1152Gln) | |
X | g.53234734G>A | CA413140044 | IQSEC2 | c.4111C>T (p.Pro1371Ser) c.1453+1049C>T c.962+1049C>T c.316+1588C>T (n.316+1588C>T) c.514+1588C>T (n.514+1588C>T) c.*437C>T (n.*437C>T) c.3952C>T (p.Pro1318Ser) c.3922C>T (p.Pro1308Ser) c.4048C>T (p.Pro1350Ser) c.3337C>T (p.Pro1113Ser) c.3597+1049C>T (n.3597+1049C>T) c.3547+1588C>T (n.3547+1588C>T) c.3274C>T (p.Pro1092Ser) c.3241C>T (p.Pro1081Ser) c.3454C>T (p.Pro1152Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53234734G>C | CA413140046 | IQSEC2 | c.4111C>G (p.Pro1371Ala) c.1453+1049C>G c.962+1049C>G c.316+1588C>G (n.316+1588C>G) c.514+1588C>G (n.514+1588C>G) c.*437C>G (n.*437C>G) c.3952C>G (p.Pro1318Ala) c.3922C>G (p.Pro1308Ala) c.4048C>G (p.Pro1350Ala) c.3337C>G (p.Pro1113Ala) c.3597+1049C>G (n.3597+1049C>G) c.3547+1588C>G (n.3547+1588C>G) c.3274C>G (p.Pro1092Ala) c.3241C>G (p.Pro1081Ala) c.3454C>G (p.Pro1152Ala) | |
X | g.53234734G= | CA2429770573 | IQSEC2 | c.4111C= (p.Pro1371=) c.1453+1049C= c.962+1049C= c.316+1588C= (n.316+1588C=) c.514+1588C= (n.514+1588C=) c.*437C= (n.*437C=) c.3952C= (p.Pro1318=) c.3922C= (p.Pro1308=) c.4048C= (p.Pro1350=) c.3337C= (p.Pro1113=) c.3597+1049C= (n.3597+1049C=) c.3547+1588C= (n.3547+1588C=) c.3274C= (p.Pro1092=) c.3241C= (p.Pro1081=) c.3454C= (p.Pro1152=) | |
X | g.53234734G>T | CA413140047 | IQSEC2 | c.4111C>A (p.Pro1371Thr) c.1453+1049C>A c.962+1049C>A c.316+1588C>A (n.316+1588C>A) c.514+1588C>A (n.514+1588C>A) c.*437C>A (n.*437C>A) c.3952C>A (p.Pro1318Thr) c.3922C>A (p.Pro1308Thr) c.4048C>A (p.Pro1350Thr) c.3337C>A (p.Pro1113Thr) c.3597+1049C>A (n.3597+1049C>A) c.3547+1588C>A (n.3547+1588C>A) c.3274C>A (p.Pro1092Thr) c.3241C>A (p.Pro1081Thr) c.3454C>A (p.Pro1152Thr) | |
X | g.53234735C>A | CA516673542 | IQSEC2 | c.4110G>T (p.Gly1370=) c.1453+1048G>T c.962+1048G>T c.316+1587G>T (n.316+1587G>T) c.514+1587G>T (n.514+1587G>T) c.*436G>T (n.*436G>T) c.3951G>T (p.Gly1317=) c.3921G>T (p.Gly1307=) c.4047G>T (p.Gly1349=) c.3336G>T (p.Gly1112=) c.3597+1048G>T (n.3597+1048G>T) c.3547+1587G>T (n.3547+1587G>T) c.3273G>T (p.Gly1091=) c.3240G>T (p.Gly1080=) c.3453G>T (p.Gly1151=) | gnomAD v4 |
X | g.53234735C>G | CA516673543 | IQSEC2 | c.4110G>C (p.Gly1370=) c.1453+1048G>C c.962+1048G>C c.316+1587G>C (n.316+1587G>C) c.514+1587G>C (n.514+1587G>C) c.*436G>C (n.*436G>C) c.3951G>C (p.Gly1317=) c.3921G>C (p.Gly1307=) c.4047G>C (p.Gly1349=) c.3336G>C (p.Gly1112=) c.3597+1048G>C (n.3597+1048G>C) c.3547+1587G>C (n.3547+1587G>C) c.3273G>C (p.Gly1091=) c.3240G>C (p.Gly1080=) c.3453G>C (p.Gly1151=) | |
X | g.53234735C>T | CA516673544 | IQSEC2 | c.4110G>A (p.Gly1370=) c.1453+1048G>A c.962+1048G>A c.316+1587G>A (n.316+1587G>A) c.514+1587G>A (n.514+1587G>A) c.*436G>A (n.*436G>A) c.3951G>A (p.Gly1317=) c.3921G>A (p.Gly1307=) c.4047G>A (p.Gly1349=) c.3336G>A (p.Gly1112=) c.3597+1048G>A (n.3597+1048G>A) c.3547+1587G>A (n.3547+1587G>A) c.3273G>A (p.Gly1091=) c.3240G>A (p.Gly1080=) c.3453G>A (p.Gly1151=) | gnomAD v4 |
X | g.53234736C>A | CA413140049 | IQSEC2 | c.4109G>T (p.Gly1370Val) c.1453+1047G>T c.962+1047G>T c.316+1586G>T (n.316+1586G>T) c.514+1586G>T (n.514+1586G>T) c.*435G>T (n.*435G>T) c.3950G>T (p.Gly1317Val) c.3920G>T (p.Gly1307Val) c.4046G>T (p.Gly1349Val) c.3335G>T (p.Gly1112Val) c.3597+1047G>T (n.3597+1047G>T) c.3547+1586G>T (n.3547+1586G>T) c.3272G>T (p.Gly1091Val) c.3239G>T (p.Gly1080Val) c.3452G>T (p.Gly1151Val) | |
X | g.53234736C>G | CA413140050 | IQSEC2 | c.4109G>C (p.Gly1370Ala) c.1453+1047G>C c.962+1047G>C c.316+1586G>C (n.316+1586G>C) c.514+1586G>C (n.514+1586G>C) c.*435G>C (n.*435G>C) c.3950G>C (p.Gly1317Ala) c.3920G>C (p.Gly1307Ala) c.4046G>C (p.Gly1349Ala) c.3335G>C (p.Gly1112Ala) c.3597+1047G>C (n.3597+1047G>C) c.3547+1586G>C (n.3547+1586G>C) c.3272G>C (p.Gly1091Ala) c.3239G>C (p.Gly1080Ala) c.3452G>C (p.Gly1151Ala) | |
X | g.53234736C>T | CA413140052 | IQSEC2 | c.4109G>A (p.Gly1370Glu) c.1453+1047G>A c.962+1047G>A c.316+1586G>A (n.316+1586G>A) c.514+1586G>A (n.514+1586G>A) c.*435G>A (n.*435G>A) c.3950G>A (p.Gly1317Glu) c.3920G>A (p.Gly1307Glu) c.4046G>A (p.Gly1349Glu) c.3335G>A (p.Gly1112Glu) c.3597+1047G>A (n.3597+1047G>A) c.3547+1586G>A (n.3547+1586G>A) c.3272G>A (p.Gly1091Glu) c.3239G>A (p.Gly1080Glu) c.3452G>A (p.Gly1151Glu) | |
X | g.53234737C>A | CA413140053 | IQSEC2 | c.4108G>T (p.Gly1370Trp) c.1453+1046G>T c.962+1046G>T c.316+1585G>T (n.316+1585G>T) c.514+1585G>T (n.514+1585G>T) c.*434G>T (n.*434G>T) c.3949G>T (p.Gly1317Trp) c.3919G>T (p.Gly1307Trp) c.4045G>T (p.Gly1349Trp) c.3334G>T (p.Gly1112Trp) c.3597+1046G>T (n.3597+1046G>T) c.3547+1585G>T (n.3547+1585G>T) c.3271G>T (p.Gly1091Trp) c.3238G>T (p.Gly1080Trp) c.3451G>T (p.Gly1151Trp) | |
X | g.53234737C>G | CA413140055 | IQSEC2 | c.4108G>C (p.Gly1370Arg) c.1453+1046G>C c.962+1046G>C c.316+1585G>C (n.316+1585G>C) c.514+1585G>C (n.514+1585G>C) c.*434G>C (n.*434G>C) c.3949G>C (p.Gly1317Arg) c.3919G>C (p.Gly1307Arg) c.4045G>C (p.Gly1349Arg) c.3334G>C (p.Gly1112Arg) c.3597+1046G>C (n.3597+1046G>C) c.3547+1585G>C (n.3547+1585G>C) c.3271G>C (p.Gly1091Arg) c.3238G>C (p.Gly1080Arg) c.3451G>C (p.Gly1151Arg) | |
X | g.53234737C>T | CA413140057 | IQSEC2 | c.4108G>A (p.Gly1370Arg) c.1453+1046G>A c.962+1046G>A c.316+1585G>A (n.316+1585G>A) c.514+1585G>A (n.514+1585G>A) c.*434G>A (n.*434G>A) c.3949G>A (p.Gly1317Arg) c.3919G>A (p.Gly1307Arg) c.4045G>A (p.Gly1349Arg) c.3334G>A (p.Gly1112Arg) c.3597+1046G>A (n.3597+1046G>A) c.3547+1585G>A (n.3547+1585G>A) c.3271G>A (p.Gly1091Arg) c.3238G>A (p.Gly1080Arg) c.3451G>A (p.Gly1151Arg) | gnomAD v4 |
X | g.53234738C>A | CA516673548 | IQSEC2 | c.4107G>T (p.Val1369=) c.1453+1045G>T c.962+1045G>T c.316+1584G>T (n.316+1584G>T) c.514+1584G>T (n.514+1584G>T) c.*433G>T (n.*433G>T) c.3948G>T (p.Val1316=) c.3918G>T (p.Val1306=) c.4044G>T (p.Val1348=) c.3333G>T (p.Val1111=) c.3597+1045G>T (n.3597+1045G>T) c.3547+1584G>T (n.3547+1584G>T) c.3270G>T (p.Val1090=) c.3237G>T (p.Val1079=) c.3450G>T (p.Val1150=) | |
X | g.53234738C>G | CA516673549 | IQSEC2 | c.4107G>C (p.Val1369=) c.1453+1045G>C c.962+1045G>C c.316+1584G>C (n.316+1584G>C) c.514+1584G>C (n.514+1584G>C) c.*433G>C (n.*433G>C) c.3948G>C (p.Val1316=) c.3918G>C (p.Val1306=) c.4044G>C (p.Val1348=) c.3333G>C (p.Val1111=) c.3597+1045G>C (n.3597+1045G>C) c.3547+1584G>C (n.3547+1584G>C) c.3270G>C (p.Val1090=) c.3237G>C (p.Val1079=) c.3450G>C (p.Val1150=) | |
X | g.53234738C>T | CA516673550 | IQSEC2 | c.4107G>A (p.Val1369=) c.1453+1045G>A c.962+1045G>A c.316+1584G>A (n.316+1584G>A) c.514+1584G>A (n.514+1584G>A) c.*433G>A (n.*433G>A) c.3948G>A (p.Val1316=) c.3918G>A (p.Val1306=) c.4044G>A (p.Val1348=) c.3333G>A (p.Val1111=) c.3597+1045G>A (n.3597+1045G>A) c.3547+1584G>A (n.3547+1584G>A) c.3270G>A (p.Val1090=) c.3237G>A (p.Val1079=) c.3450G>A (p.Val1150=) | |
X | g.53234739A>C | CA413140058 | IQSEC2 | c.4106T>G (p.Val1369Gly) c.1453+1044T>G c.962+1044T>G c.316+1583T>G (n.316+1583T>G) c.514+1583T>G (n.514+1583T>G) c.*432T>G (n.*432T>G) c.3947T>G (p.Val1316Gly) c.3917T>G (p.Val1306Gly) c.4043T>G (p.Val1348Gly) c.3332T>G (p.Val1111Gly) c.3597+1044T>G (n.3597+1044T>G) c.3547+1583T>G (n.3547+1583T>G) c.3269T>G (p.Val1090Gly) c.3236T>G (p.Val1079Gly) c.3449T>G (p.Val1150Gly) | |
X | g.53234739A>G | CA413140061 | IQSEC2 | c.4106T>C (p.Val1369Ala) c.1453+1044T>C c.962+1044T>C c.316+1583T>C (n.316+1583T>C) c.514+1583T>C (n.514+1583T>C) c.*432T>C (n.*432T>C) c.3947T>C (p.Val1316Ala) c.3917T>C (p.Val1306Ala) c.4043T>C (p.Val1348Ala) c.3332T>C (p.Val1111Ala) c.3597+1044T>C (n.3597+1044T>C) c.3547+1583T>C (n.3547+1583T>C) c.3269T>C (p.Val1090Ala) c.3236T>C (p.Val1079Ala) c.3449T>C (p.Val1150Ala) | |
X | g.53234739A>T | CA413140060 | IQSEC2 | c.4106T>A (p.Val1369Glu) c.1453+1044T>A c.962+1044T>A c.316+1583T>A (n.316+1583T>A) c.514+1583T>A (n.514+1583T>A) c.*432T>A (n.*432T>A) c.3947T>A (p.Val1316Glu) c.3917T>A (p.Val1306Glu) c.4043T>A (p.Val1348Glu) c.3332T>A (p.Val1111Glu) c.3597+1044T>A (n.3597+1044T>A) c.3547+1583T>A (n.3547+1583T>A) c.3269T>A (p.Val1090Glu) c.3236T>A (p.Val1079Glu) c.3449T>A (p.Val1150Glu) | |
X | g.53234739_53234742delinsACAG | CA2429770574 | IQSEC2 | c.4103_4106delinsCTGT (p.Pro1368=) c.1453+1041_1453+1044delinsCTGT c.962+1041_962+1044delinsCTGT c.316+1580_316+1583delinsCTGT (n.316+1580_316+1583delinsCTGT) c.514+1580_514+1583delinsCTGT (n.514+1580_514+1583delinsCTGT) c.*429_*432delinsCTGT (n.*429_*432delinsCTGT) c.3944_3947delinsCTGT (p.Pro1315=) c.3914_3917delinsCTGT (p.Pro1305=) c.4040_4043delinsCTGT (p.Pro1347=) c.3329_3332delinsCTGT (p.Pro1110=) c.3597+1041_3597+1044delinsCTGT (n.3597+1041_3597+1044delinsCTGT) c.3547+1580_3547+1583delinsCTGT (n.3547+1580_3547+1583delinsCTGT) c.3266_3269delinsCTGT (p.Pro1089=) c.3233_3236delinsCTGT (p.Pro1078=) c.3446_3449delinsCTGT (p.Pro1149=) | |
X | g.53234740C>A | CA413140064 | IQSEC2 | c.4105G>T (p.Val1369Leu) c.1453+1043G>T c.962+1043G>T c.316+1582G>T (n.316+1582G>T) c.514+1582G>T (n.514+1582G>T) c.*431G>T (n.*431G>T) c.3946G>T (p.Val1316Leu) c.3916G>T (p.Val1306Leu) c.4042G>T (p.Val1348Leu) c.3331G>T (p.Val1111Leu) c.3597+1043G>T (n.3597+1043G>T) c.3547+1582G>T (n.3547+1582G>T) c.3268G>T (p.Val1090Leu) c.3235G>T (p.Val1079Leu) c.3448G>T (p.Val1150Leu) | |
X | g.53234740C>G | CA413140065 | IQSEC2 | c.4105G>C (p.Val1369Leu) c.1453+1043G>C c.962+1043G>C c.316+1582G>C (n.316+1582G>C) c.514+1582G>C (n.514+1582G>C) c.*431G>C (n.*431G>C) c.3946G>C (p.Val1316Leu) c.3916G>C (p.Val1306Leu) c.4042G>C (p.Val1348Leu) c.3331G>C (p.Val1111Leu) c.3597+1043G>C (n.3597+1043G>C) c.3547+1582G>C (n.3547+1582G>C) c.3268G>C (p.Val1090Leu) c.3235G>C (p.Val1079Leu) c.3448G>C (p.Val1150Leu) | |
X | g.53234740C>T | CA413140066 | IQSEC2 | c.4105G>A (p.Val1369Met) c.1453+1043G>A c.962+1043G>A c.316+1582G>A (n.316+1582G>A) c.514+1582G>A (n.514+1582G>A) c.*431G>A (n.*431G>A) c.3946G>A (p.Val1316Met) c.3916G>A (p.Val1306Met) c.4042G>A (p.Val1348Met) c.3331G>A (p.Val1111Met) c.3597+1043G>A (n.3597+1043G>A) c.3547+1582G>A (n.3547+1582G>A) c.3268G>A (p.Val1090Met) c.3235G>A (p.Val1079Met) c.3448G>A (p.Val1150Met) | |
X | g.53234740dup | CA2843565909 | IQSEC2 | c.4105dup (p.Val1369GlyfsTer?) c.1453+1043dup c.962+1043dup c.316+1582dup (n.316+1582dup) c.514+1582dup (n.514+1582dup) c.*431dup (n.*431dup) c.3946dup (p.Val1316GlyfsTer?) c.3916dup (p.Val1306GlyfsTer?) c.4042dup (p.Val1348GlyfsTer?) c.3331dup (p.Val1111GlyfsTer?) c.3597+1043dup (n.3597+1043dup) c.3547+1582dup (n.3547+1582dup) c.3268dup (p.Val1090GlyfsTer?) c.3235dup (p.Val1079GlyfsTer?) c.3448dup (p.Val1150GlyfsTer?) | |
X | g.53234740_53234742del | CA891844508 | IQSEC2 | c.4103_4105del (p.Pro1368_Val1369delinsLeu) c.1453+1041_1453+1043del c.962+1041_962+1043del c.316+1580_316+1582del (n.316+1580_316+1582del) c.514+1580_514+1582del (n.514+1580_514+1582del) c.*429_*431del (n.*429_*431del) c.3944_3946del (p.Pro1315_Val1316delinsLeu) c.3914_3916del (p.Pro1305_Val1306delinsLeu) c.4040_4042del (p.Pro1347_Val1348delinsLeu) c.3329_3331del (p.Pro1110_Val1111delinsLeu) c.3597+1041_3597+1043del (n.3597+1041_3597+1043del) c.3547+1580_3547+1582del (n.3547+1580_3547+1582del) c.3266_3268del (p.Pro1089_Val1090delinsLeu) c.3233_3235del (p.Pro1078_Val1079delinsLeu) c.3446_3448del (p.Pro1149_Val1150delinsLeu) | ClinVar dbSNP |
X | g.53234741A>C | CA516673555 | IQSEC2 | c.4104T>G (p.Pro1368=) c.1453+1042T>G c.962+1042T>G c.316+1581T>G (n.316+1581T>G) c.514+1581T>G (n.514+1581T>G) c.*430T>G (n.*430T>G) c.3945T>G (p.Pro1315=) c.3915T>G (p.Pro1305=) c.4041T>G (p.Pro1347=) c.3330T>G (p.Pro1110=) c.3597+1042T>G (n.3597+1042T>G) c.3547+1581T>G (n.3547+1581T>G) c.3267T>G (p.Pro1089=) c.3234T>G (p.Pro1078=) c.3447T>G (p.Pro1149=) | |
X | g.53234741A>G | CA516673553 | IQSEC2 | c.4104T>C (p.Pro1368=) c.1453+1042T>C c.962+1042T>C c.316+1581T>C (n.316+1581T>C) c.514+1581T>C (n.514+1581T>C) c.*430T>C (n.*430T>C) c.3945T>C (p.Pro1315=) c.3915T>C (p.Pro1305=) c.4041T>C (p.Pro1347=) c.3330T>C (p.Pro1110=) c.3597+1042T>C (n.3597+1042T>C) c.3547+1581T>C (n.3547+1581T>C) c.3267T>C (p.Pro1089=) c.3234T>C (p.Pro1078=) c.3447T>C (p.Pro1149=) | |
X | g.53234741A>T | CA516673554 | IQSEC2 | c.4104T>A (p.Pro1368=) c.1453+1042T>A c.962+1042T>A c.316+1581T>A (n.316+1581T>A) c.514+1581T>A (n.514+1581T>A) c.*430T>A (n.*430T>A) c.3945T>A (p.Pro1315=) c.3915T>A (p.Pro1305=) c.4041T>A (p.Pro1347=) c.3330T>A (p.Pro1110=) c.3597+1042T>A (n.3597+1042T>A) c.3547+1581T>A (n.3547+1581T>A) c.3267T>A (p.Pro1089=) c.3234T>A (p.Pro1078=) c.3447T>A (p.Pro1149=) | gnomAD v4 |
X | g.53234742G>A | CA413140068 | IQSEC2 | c.4103C>T (p.Pro1368Leu) c.1453+1041C>T c.962+1041C>T c.316+1580C>T (n.316+1580C>T) c.514+1580C>T (n.514+1580C>T) c.*429C>T (n.*429C>T) c.3944C>T (p.Pro1315Leu) c.3914C>T (p.Pro1305Leu) c.4040C>T (p.Pro1347Leu) c.3329C>T (p.Pro1110Leu) c.3597+1041C>T (n.3597+1041C>T) c.3547+1580C>T (n.3547+1580C>T) c.3266C>T (p.Pro1089Leu) c.3233C>T (p.Pro1078Leu) c.3446C>T (p.Pro1149Leu) | |
X | g.53234742G>C | CA413140070 | IQSEC2 | c.4103C>G (p.Pro1368Arg) c.1453+1041C>G c.962+1041C>G c.316+1580C>G (n.316+1580C>G) c.514+1580C>G (n.514+1580C>G) c.*429C>G (n.*429C>G) c.3944C>G (p.Pro1315Arg) c.3914C>G (p.Pro1305Arg) c.4040C>G (p.Pro1347Arg) c.3329C>G (p.Pro1110Arg) c.3597+1041C>G (n.3597+1041C>G) c.3547+1580C>G (n.3547+1580C>G) c.3266C>G (p.Pro1089Arg) c.3233C>G (p.Pro1078Arg) c.3446C>G (p.Pro1149Arg) | |
X | g.53234742G>T | CA413140072 | IQSEC2 | c.4103C>A (p.Pro1368His) c.1453+1041C>A c.962+1041C>A c.316+1580C>A (n.316+1580C>A) c.514+1580C>A (n.514+1580C>A) c.*429C>A (n.*429C>A) c.3944C>A (p.Pro1315His) c.3914C>A (p.Pro1305His) c.4040C>A (p.Pro1347His) c.3329C>A (p.Pro1110His) c.3597+1041C>A (n.3597+1041C>A) c.3547+1580C>A (n.3547+1580C>A) c.3266C>A (p.Pro1089His) c.3233C>A (p.Pro1078His) c.3446C>A (p.Pro1149His) | gnomAD v4 |
X | g.53234743G>A | CA413140073 | IQSEC2 | c.4102C>T (p.Pro1368Ser) c.1453+1040C>T c.962+1040C>T c.316+1579C>T (n.316+1579C>T) c.514+1579C>T (n.514+1579C>T) c.*428C>T (n.*428C>T) c.3943C>T (p.Pro1315Ser) c.3913C>T (p.Pro1305Ser) c.4039C>T (p.Pro1347Ser) c.3328C>T (p.Pro1110Ser) c.3597+1040C>T (n.3597+1040C>T) c.3547+1579C>T (n.3547+1579C>T) c.3265C>T (p.Pro1089Ser) c.3232C>T (p.Pro1078Ser) c.3445C>T (p.Pro1149Ser) | gnomAD v4 |
X | g.53234743G>C | CA413140075 | IQSEC2 | c.4102C>G (p.Pro1368Ala) c.1453+1040C>G c.962+1040C>G c.316+1579C>G (n.316+1579C>G) c.514+1579C>G (n.514+1579C>G) c.*428C>G (n.*428C>G) c.3943C>G (p.Pro1315Ala) c.3913C>G (p.Pro1305Ala) c.4039C>G (p.Pro1347Ala) c.3328C>G (p.Pro1110Ala) c.3597+1040C>G (n.3597+1040C>G) c.3547+1579C>G (n.3547+1579C>G) c.3265C>G (p.Pro1089Ala) c.3232C>G (p.Pro1078Ala) c.3445C>G (p.Pro1149Ala) | |
X | g.53234743G>T | CA413140077 | IQSEC2 | c.4102C>A (p.Pro1368Thr) c.1453+1040C>A c.962+1040C>A c.316+1579C>A (n.316+1579C>A) c.514+1579C>A (n.514+1579C>A) c.*428C>A (n.*428C>A) c.3943C>A (p.Pro1315Thr) c.3913C>A (p.Pro1305Thr) c.4039C>A (p.Pro1347Thr) c.3328C>A (p.Pro1110Thr) c.3597+1040C>A (n.3597+1040C>A) c.3547+1579C>A (n.3547+1579C>A) c.3265C>A (p.Pro1089Thr) c.3232C>A (p.Pro1078Thr) c.3445C>A (p.Pro1149Thr) | |
X | g.53234744T>A | CA516673559 | IQSEC2 | c.4101A>T (p.Pro1367=) c.1453+1039A>T c.962+1039A>T c.316+1578A>T (n.316+1578A>T) c.514+1578A>T (n.514+1578A>T) c.*427A>T (n.*427A>T) c.3942A>T (p.Pro1314=) c.3912A>T (p.Pro1304=) c.4038A>T (p.Pro1346=) c.3327A>T (p.Pro1109=) c.3597+1039A>T (n.3597+1039A>T) c.3547+1578A>T (n.3547+1578A>T) c.3264A>T (p.Pro1088=) c.3231A>T (p.Pro1077=) c.3444A>T (p.Pro1148=) | |
X | g.53234744T>C | CA516673560 | IQSEC2 | c.4101A>G (p.Pro1367=) c.1453+1039A>G c.962+1039A>G c.316+1578A>G (n.316+1578A>G) c.514+1578A>G (n.514+1578A>G) c.*427A>G (n.*427A>G) c.3942A>G (p.Pro1314=) c.3912A>G (p.Pro1304=) c.4038A>G (p.Pro1346=) c.3327A>G (p.Pro1109=) c.3597+1039A>G (n.3597+1039A>G) c.3547+1578A>G (n.3547+1578A>G) c.3264A>G (p.Pro1088=) c.3231A>G (p.Pro1077=) c.3444A>G (p.Pro1148=) | |
X | g.53234744T>G | CA516673561 | IQSEC2 | c.4101A>C (p.Pro1367=) c.1453+1039A>C c.962+1039A>C c.316+1578A>C (n.316+1578A>C) c.514+1578A>C (n.514+1578A>C) c.*427A>C (n.*427A>C) c.3942A>C (p.Pro1314=) c.3912A>C (p.Pro1304=) c.4038A>C (p.Pro1346=) c.3327A>C (p.Pro1109=) c.3597+1039A>C (n.3597+1039A>C) c.3547+1578A>C (n.3547+1578A>C) c.3264A>C (p.Pro1088=) c.3231A>C (p.Pro1077=) c.3444A>C (p.Pro1148=) | |
X | g.53234745G>A | CA413140080 | IQSEC2 | c.4100C>T (p.Pro1367Leu) c.1453+1038C>T c.962+1038C>T c.316+1577C>T (n.316+1577C>T) c.514+1577C>T (n.514+1577C>T) c.*426C>T (n.*426C>T) c.3941C>T (p.Pro1314Leu) c.3911C>T (p.Pro1304Leu) c.4037C>T (p.Pro1346Leu) c.3326C>T (p.Pro1109Leu) c.3597+1038C>T (n.3597+1038C>T) c.3547+1577C>T (n.3547+1577C>T) c.3263C>T (p.Pro1088Leu) c.3230C>T (p.Pro1077Leu) c.3443C>T (p.Pro1148Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234745G>C | CA413140082 | IQSEC2 | c.4100C>G (p.Pro1367Arg) c.1453+1038C>G c.962+1038C>G c.316+1577C>G (n.316+1577C>G) c.514+1577C>G (n.514+1577C>G) c.*426C>G (n.*426C>G) c.3941C>G (p.Pro1314Arg) c.3911C>G (p.Pro1304Arg) c.4037C>G (p.Pro1346Arg) c.3326C>G (p.Pro1109Arg) c.3597+1038C>G (n.3597+1038C>G) c.3547+1577C>G (n.3547+1577C>G) c.3263C>G (p.Pro1088Arg) c.3230C>G (p.Pro1077Arg) c.3443C>G (p.Pro1148Arg) | |
X | g.53234745G= | CA2429770575 | IQSEC2 | c.4100C= (p.Pro1367=) c.1453+1038C= c.962+1038C= c.316+1577C= (n.316+1577C=) c.514+1577C= (n.514+1577C=) c.*426C= (n.*426C=) c.3941C= (p.Pro1314=) c.3911C= (p.Pro1304=) c.4037C= (p.Pro1346=) c.3326C= (p.Pro1109=) c.3597+1038C= (n.3597+1038C=) c.3547+1577C= (n.3547+1577C=) c.3263C= (p.Pro1088=) c.3230C= (p.Pro1077=) c.3443C= (p.Pro1148=) | |
X | g.53234745G>T | CA413140078 | IQSEC2 | c.4100C>A (p.Pro1367Gln) c.1453+1038C>A c.962+1038C>A c.316+1577C>A (n.316+1577C>A) c.514+1577C>A (n.514+1577C>A) c.*426C>A (n.*426C>A) c.3941C>A (p.Pro1314Gln) c.3911C>A (p.Pro1304Gln) c.4037C>A (p.Pro1346Gln) c.3326C>A (p.Pro1109Gln) c.3597+1038C>A (n.3597+1038C>A) c.3547+1577C>A (n.3547+1577C>A) c.3263C>A (p.Pro1088Gln) c.3230C>A (p.Pro1077Gln) c.3443C>A (p.Pro1148Gln) | |
X | g.53234746G>A | CA413140084 | IQSEC2 | c.4099C>T (p.Pro1367Ser) c.1453+1037C>T c.962+1037C>T c.316+1576C>T (n.316+1576C>T) c.514+1576C>T (n.514+1576C>T) c.*425C>T (n.*425C>T) c.3940C>T (p.Pro1314Ser) c.3910C>T (p.Pro1304Ser) c.4036C>T (p.Pro1346Ser) c.3325C>T (p.Pro1109Ser) c.3597+1037C>T (n.3597+1037C>T) c.3547+1576C>T (n.3547+1576C>T) c.3262C>T (p.Pro1088Ser) c.3229C>T (p.Pro1077Ser) c.3442C>T (p.Pro1148Ser) | gnomAD v4 |
X | g.53234746G>C | CA413140085 | IQSEC2 | c.4099C>G (p.Pro1367Ala) c.1453+1037C>G c.962+1037C>G c.316+1576C>G (n.316+1576C>G) c.514+1576C>G (n.514+1576C>G) c.*425C>G (n.*425C>G) c.3940C>G (p.Pro1314Ala) c.3910C>G (p.Pro1304Ala) c.4036C>G (p.Pro1346Ala) c.3325C>G (p.Pro1109Ala) c.3597+1037C>G (n.3597+1037C>G) c.3547+1576C>G (n.3547+1576C>G) c.3262C>G (p.Pro1088Ala) c.3229C>G (p.Pro1077Ala) c.3442C>G (p.Pro1148Ala) | |
X | g.53234746G>T | CA413140087 | IQSEC2 | c.4099C>A (p.Pro1367Thr) c.1453+1037C>A c.962+1037C>A c.316+1576C>A (n.316+1576C>A) c.514+1576C>A (n.514+1576C>A) c.*425C>A (n.*425C>A) c.3940C>A (p.Pro1314Thr) c.3910C>A (p.Pro1304Thr) c.4036C>A (p.Pro1346Thr) c.3325C>A (p.Pro1109Thr) c.3597+1037C>A (n.3597+1037C>A) c.3547+1576C>A (n.3547+1576C>A) c.3262C>A (p.Pro1088Thr) c.3229C>A (p.Pro1077Thr) c.3442C>A (p.Pro1148Thr) | |
X | g.53234747G>A | CA516673562 | IQSEC2 | c.4098C>T (p.Ala1366=) c.1453+1036C>T c.962+1036C>T c.316+1575C>T (n.316+1575C>T) c.514+1575C>T (n.514+1575C>T) c.*424C>T (n.*424C>T) c.3939C>T (p.Ala1313=) c.3909C>T (p.Ala1303=) c.4035C>T (p.Ala1345=) c.3324C>T (p.Ala1108=) c.3597+1036C>T (n.3597+1036C>T) c.3547+1575C>T (n.3547+1575C>T) c.3261C>T (p.Ala1087=) c.3228C>T (p.Ala1076=) c.3441C>T (p.Ala1147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234747G>C | CA516673563 | IQSEC2 | c.4098C>G (p.Ala1366=) c.1453+1036C>G c.962+1036C>G c.316+1575C>G (n.316+1575C>G) c.514+1575C>G (n.514+1575C>G) c.*424C>G (n.*424C>G) c.3939C>G (p.Ala1313=) c.3909C>G (p.Ala1303=) c.4035C>G (p.Ala1345=) c.3324C>G (p.Ala1108=) c.3597+1036C>G (n.3597+1036C>G) c.3547+1575C>G (n.3547+1575C>G) c.3261C>G (p.Ala1087=) c.3228C>G (p.Ala1076=) c.3441C>G (p.Ala1147=) | |
X | g.53234747G= | CA2429770576 | IQSEC2 | c.4098C= (p.Ala1366=) c.1453+1036C= c.962+1036C= c.316+1575C= (n.316+1575C=) c.514+1575C= (n.514+1575C=) c.*424C= (n.*424C=) c.3939C= (p.Ala1313=) c.3909C= (p.Ala1303=) c.4035C= (p.Ala1345=) c.3324C= (p.Ala1108=) c.3597+1036C= (n.3597+1036C=) c.3547+1575C= (n.3547+1575C=) c.3261C= (p.Ala1087=) c.3228C= (p.Ala1076=) c.3441C= (p.Ala1147=) | |
X | g.53234747G>T | CA516673564 | IQSEC2 | c.4098C>A (p.Ala1366=) c.1453+1036C>A c.962+1036C>A c.316+1575C>A (n.316+1575C>A) c.514+1575C>A (n.514+1575C>A) c.*424C>A (n.*424C>A) c.3939C>A (p.Ala1313=) c.3909C>A (p.Ala1303=) c.4035C>A (p.Ala1345=) c.3324C>A (p.Ala1108=) c.3597+1036C>A (n.3597+1036C>A) c.3547+1575C>A (n.3547+1575C>A) c.3261C>A (p.Ala1087=) c.3228C>A (p.Ala1076=) c.3441C>A (p.Ala1147=) | |
X | g.53234748G>A | CA413140088 | IQSEC2 | c.4097C>T (p.Ala1366Val) c.1453+1035C>T c.962+1035C>T c.316+1574C>T (n.316+1574C>T) c.514+1574C>T (n.514+1574C>T) c.*423C>T (n.*423C>T) c.3938C>T (p.Ala1313Val) c.3908C>T (p.Ala1303Val) c.4034C>T (p.Ala1345Val) c.3323C>T (p.Ala1108Val) c.3597+1035C>T (n.3597+1035C>T) c.3547+1574C>T (n.3547+1574C>T) c.3260C>T (p.Ala1087Val) c.3227C>T (p.Ala1076Val) c.3440C>T (p.Ala1147Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234748G>C | CA413140090 | IQSEC2 | c.4097C>G (p.Ala1366Gly) c.1453+1035C>G c.962+1035C>G c.316+1574C>G (n.316+1574C>G) c.514+1574C>G (n.514+1574C>G) c.*423C>G (n.*423C>G) c.3938C>G (p.Ala1313Gly) c.3908C>G (p.Ala1303Gly) c.4034C>G (p.Ala1345Gly) c.3323C>G (p.Ala1108Gly) c.3597+1035C>G (n.3597+1035C>G) c.3547+1574C>G (n.3547+1574C>G) c.3260C>G (p.Ala1087Gly) c.3227C>G (p.Ala1076Gly) c.3440C>G (p.Ala1147Gly) | |
X | g.53234748G= | CA2429770577 | IQSEC2 | c.4097C= (p.Ala1366=) c.1453+1035C= c.962+1035C= c.316+1574C= (n.316+1574C=) c.514+1574C= (n.514+1574C=) c.*423C= (n.*423C=) c.3938C= (p.Ala1313=) c.3908C= (p.Ala1303=) c.4034C= (p.Ala1345=) c.3323C= (p.Ala1108=) c.3597+1035C= (n.3597+1035C=) c.3547+1574C= (n.3547+1574C=) c.3260C= (p.Ala1087=) c.3227C= (p.Ala1076=) c.3440C= (p.Ala1147=) | |
X | g.53234748G>T | CA413140092 | IQSEC2 | c.4097C>A (p.Ala1366Asp) c.1453+1035C>A c.962+1035C>A c.316+1574C>A (n.316+1574C>A) c.514+1574C>A (n.514+1574C>A) c.*423C>A (n.*423C>A) c.3938C>A (p.Ala1313Asp) c.3908C>A (p.Ala1303Asp) c.4034C>A (p.Ala1345Asp) c.3323C>A (p.Ala1108Asp) c.3597+1035C>A (n.3597+1035C>A) c.3547+1574C>A (n.3547+1574C>A) c.3260C>A (p.Ala1087Asp) c.3227C>A (p.Ala1076Asp) c.3440C>A (p.Ala1147Asp) | |
X | g.53234749C>A | CA413140093 | IQSEC2 | c.4096G>T (p.Ala1366Ser) c.1453+1034G>T c.962+1034G>T c.316+1573G>T (n.316+1573G>T) c.514+1573G>T (n.514+1573G>T) c.*422G>T (n.*422G>T) c.3937G>T (p.Ala1313Ser) c.3907G>T (p.Ala1303Ser) c.4033G>T (p.Ala1345Ser) c.3322G>T (p.Ala1108Ser) c.3597+1034G>T (n.3597+1034G>T) c.3547+1573G>T (n.3547+1573G>T) c.3259G>T (p.Ala1087Ser) c.3226G>T (p.Ala1076Ser) c.3439G>T (p.Ala1147Ser) | |
X | g.53234749C>G | CA413140095 | IQSEC2 | c.4096G>C (p.Ala1366Pro) c.1453+1034G>C c.962+1034G>C c.316+1573G>C (n.316+1573G>C) c.514+1573G>C (n.514+1573G>C) c.*422G>C (n.*422G>C) c.3937G>C (p.Ala1313Pro) c.3907G>C (p.Ala1303Pro) c.4033G>C (p.Ala1345Pro) c.3322G>C (p.Ala1108Pro) c.3597+1034G>C (n.3597+1034G>C) c.3547+1573G>C (n.3547+1573G>C) c.3259G>C (p.Ala1087Pro) c.3226G>C (p.Ala1076Pro) c.3439G>C (p.Ala1147Pro) | |
X | g.53234749C>T | CA413140098 | IQSEC2 | c.4096G>A (p.Ala1366Thr) c.1453+1034G>A c.962+1034G>A c.316+1573G>A (n.316+1573G>A) c.514+1573G>A (n.514+1573G>A) c.*422G>A (n.*422G>A) c.3937G>A (p.Ala1313Thr) c.3907G>A (p.Ala1303Thr) c.4033G>A (p.Ala1345Thr) c.3322G>A (p.Ala1108Thr) c.3597+1034G>A (n.3597+1034G>A) c.3547+1573G>A (n.3547+1573G>A) c.3259G>A (p.Ala1087Thr) c.3226G>A (p.Ala1076Thr) c.3439G>A (p.Ala1147Thr) | gnomAD v4 |
X | g.53234750T>A | CA516673566 | IQSEC2 | c.4095A>T (p.Ser1365=) c.1453+1033A>T c.962+1033A>T c.316+1572A>T (n.316+1572A>T) c.514+1572A>T (n.514+1572A>T) c.*421A>T (n.*421A>T) c.3936A>T (p.Ser1312=) c.3906A>T (p.Ser1302=) c.4032A>T (p.Ser1344=) c.3321A>T (p.Ser1107=) c.3597+1033A>T (n.3597+1033A>T) c.3547+1572A>T (n.3547+1572A>T) c.3258A>T (p.Ser1086=) c.3225A>T (p.Ser1075=) c.3438A>T (p.Ser1146=) | |
X | g.53234750T>C | CA516673567 | IQSEC2 | c.4095A>G (p.Ser1365=) c.1453+1033A>G c.962+1033A>G c.316+1572A>G (n.316+1572A>G) c.514+1572A>G (n.514+1572A>G) c.*421A>G (n.*421A>G) c.3936A>G (p.Ser1312=) c.3906A>G (p.Ser1302=) c.4032A>G (p.Ser1344=) c.3321A>G (p.Ser1107=) c.3597+1033A>G (n.3597+1033A>G) c.3547+1572A>G (n.3547+1572A>G) c.3258A>G (p.Ser1086=) c.3225A>G (p.Ser1075=) c.3438A>G (p.Ser1146=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53234750T>G | CA516673568 | IQSEC2 | c.4095A>C (p.Ser1365=) c.1453+1033A>C c.962+1033A>C c.316+1572A>C (n.316+1572A>C) c.514+1572A>C (n.514+1572A>C) c.*421A>C (n.*421A>C) c.3936A>C (p.Ser1312=) c.3906A>C (p.Ser1302=) c.4032A>C (p.Ser1344=) c.3321A>C (p.Ser1107=) c.3597+1033A>C (n.3597+1033A>C) c.3547+1572A>C (n.3547+1572A>C) c.3258A>C (p.Ser1086=) c.3225A>C (p.Ser1075=) c.3438A>C (p.Ser1146=) | |
X | g.53234750T= | CA2429770578 | IQSEC2 | c.4095A= (p.Ser1365=) c.1453+1033A= c.962+1033A= c.316+1572A= (n.316+1572A=) c.514+1572A= (n.514+1572A=) c.*421A= (n.*421A=) c.3936A= (p.Ser1312=) c.3906A= (p.Ser1302=) c.4032A= (p.Ser1344=) c.3321A= (p.Ser1107=) c.3597+1033A= (n.3597+1033A=) c.3547+1572A= (n.3547+1572A=) c.3258A= (p.Ser1086=) c.3225A= (p.Ser1075=) c.3438A= (p.Ser1146=) | |
X | g.53234751G>A | CA413140101 | IQSEC2 | c.4094C>T (p.Ser1365Leu) c.1453+1032C>T c.962+1032C>T c.316+1571C>T (n.316+1571C>T) c.514+1571C>T (n.514+1571C>T) c.*420C>T (n.*420C>T) c.3935C>T (p.Ser1312Leu) c.3905C>T (p.Ser1302Leu) c.4031C>T (p.Ser1344Leu) c.3320C>T (p.Ser1107Leu) c.3597+1032C>T (n.3597+1032C>T) c.3547+1571C>T (n.3547+1571C>T) c.3257C>T (p.Ser1086Leu) c.3224C>T (p.Ser1075Leu) c.3437C>T (p.Ser1146Leu) | ClinVar dbSNP gnomAD v4 |
X | g.53234751G>C | CA413140103 | IQSEC2 | c.4094C>G (p.Ser1365Ter) c.1453+1032C>G c.962+1032C>G c.316+1571C>G (n.316+1571C>G) c.514+1571C>G (n.514+1571C>G) c.*420C>G (n.*420C>G) c.3935C>G (p.Ser1312Ter) c.3905C>G (p.Ser1302Ter) c.4031C>G (p.Ser1344Ter) c.3320C>G (p.Ser1107Ter) c.3597+1032C>G (n.3597+1032C>G) c.3547+1571C>G (n.3547+1571C>G) c.3257C>G (p.Ser1086Ter) c.3224C>G (p.Ser1075Ter) c.3437C>G (p.Ser1146Ter) | |
X | g.53234751G= | CA2429770579 | IQSEC2 | c.4094C= (p.Ser1365=) c.1453+1032C= c.962+1032C= c.316+1571C= (n.316+1571C=) c.514+1571C= (n.514+1571C=) c.*420C= (n.*420C=) c.3935C= (p.Ser1312=) c.3905C= (p.Ser1302=) c.4031C= (p.Ser1344=) c.3320C= (p.Ser1107=) c.3597+1032C= (n.3597+1032C=) c.3547+1571C= (n.3547+1571C=) c.3257C= (p.Ser1086=) c.3224C= (p.Ser1075=) c.3437C= (p.Ser1146=) | |
X | g.53234751G>T | CA413140104 | IQSEC2 | c.4094C>A (p.Ser1365Ter) c.1453+1032C>A c.962+1032C>A c.316+1571C>A (n.316+1571C>A) c.514+1571C>A (n.514+1571C>A) c.*420C>A (n.*420C>A) c.3935C>A (p.Ser1312Ter) c.3905C>A (p.Ser1302Ter) c.4031C>A (p.Ser1344Ter) c.3320C>A (p.Ser1107Ter) c.3597+1032C>A (n.3597+1032C>A) c.3547+1571C>A (n.3547+1571C>A) c.3257C>A (p.Ser1086Ter) c.3224C>A (p.Ser1075Ter) c.3437C>A (p.Ser1146Ter) | |
X | g.53234752A>C | CA413140109 | IQSEC2 | c.4093T>G (p.Ser1365Ala) c.1453+1031T>G c.962+1031T>G c.316+1570T>G (n.316+1570T>G) c.514+1570T>G (n.514+1570T>G) c.*419T>G (n.*419T>G) c.3934T>G (p.Ser1312Ala) c.3904T>G (p.Ser1302Ala) c.4030T>G (p.Ser1344Ala) c.3319T>G (p.Ser1107Ala) c.3597+1031T>G (n.3597+1031T>G) c.3547+1570T>G (n.3547+1570T>G) c.3256T>G (p.Ser1086Ala) c.3223T>G (p.Ser1075Ala) c.3436T>G (p.Ser1146Ala) | |
X | g.53234752A>G | CA413140106 | IQSEC2 | c.4093T>C (p.Ser1365Pro) c.1453+1031T>C c.962+1031T>C c.316+1570T>C (n.316+1570T>C) c.514+1570T>C (n.514+1570T>C) c.*419T>C (n.*419T>C) c.3934T>C (p.Ser1312Pro) c.3904T>C (p.Ser1302Pro) c.4030T>C (p.Ser1344Pro) c.3319T>C (p.Ser1107Pro) c.3597+1031T>C (n.3597+1031T>C) c.3547+1570T>C (n.3547+1570T>C) c.3256T>C (p.Ser1086Pro) c.3223T>C (p.Ser1075Pro) c.3436T>C (p.Ser1146Pro) | gnomAD v4 |
X | g.53234752A>T | CA413140107 | IQSEC2 | c.4093T>A (p.Ser1365Thr) c.1453+1031T>A c.962+1031T>A c.316+1570T>A (n.316+1570T>A) c.514+1570T>A (n.514+1570T>A) c.*419T>A (n.*419T>A) c.3934T>A (p.Ser1312Thr) c.3904T>A (p.Ser1302Thr) c.4030T>A (p.Ser1344Thr) c.3319T>A (p.Ser1107Thr) c.3597+1031T>A (n.3597+1031T>A) c.3547+1570T>A (n.3547+1570T>A) c.3256T>A (p.Ser1086Thr) c.3223T>A (p.Ser1075Thr) c.3436T>A (p.Ser1146Thr) | |
X | g.53234753G>A | CA516673570 | IQSEC2 | c.4092C>T (p.Ala1364=) c.1453+1030C>T c.962+1030C>T c.316+1569C>T (n.316+1569C>T) c.514+1569C>T (n.514+1569C>T) c.*418C>T (n.*418C>T) c.3933C>T (p.Ala1311=) c.3903C>T (p.Ala1301=) c.4029C>T (p.Ala1343=) c.3318C>T (p.Ala1106=) c.3597+1030C>T (n.3597+1030C>T) c.3547+1569C>T (n.3547+1569C>T) c.3255C>T (p.Ala1085=) c.3222C>T (p.Ala1074=) c.3435C>T (p.Ala1145=) | |
X | g.53234753G>C | CA516673572 | IQSEC2 | c.4092C>G (p.Ala1364=) c.1453+1030C>G c.962+1030C>G c.316+1569C>G (n.316+1569C>G) c.514+1569C>G (n.514+1569C>G) c.*418C>G (n.*418C>G) c.3933C>G (p.Ala1311=) c.3903C>G (p.Ala1301=) c.4029C>G (p.Ala1343=) c.3318C>G (p.Ala1106=) c.3597+1030C>G (n.3597+1030C>G) c.3547+1569C>G (n.3547+1569C>G) c.3255C>G (p.Ala1085=) c.3222C>G (p.Ala1074=) c.3435C>G (p.Ala1145=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53234753G= | CA2429770580 | IQSEC2 | c.4092C= (p.Ala1364=) c.1453+1030C= c.962+1030C= c.316+1569C= (n.316+1569C=) c.514+1569C= (n.514+1569C=) c.*418C= (n.*418C=) c.3933C= (p.Ala1311=) c.3903C= (p.Ala1301=) c.4029C= (p.Ala1343=) c.3318C= (p.Ala1106=) c.3597+1030C= (n.3597+1030C=) c.3547+1569C= (n.3547+1569C=) c.3255C= (p.Ala1085=) c.3222C= (p.Ala1074=) c.3435C= (p.Ala1145=) | |
X | g.53234753G>T | CA516673573 | IQSEC2 | c.4092C>A (p.Ala1364=) c.1453+1030C>A c.962+1030C>A c.316+1569C>A (n.316+1569C>A) c.514+1569C>A (n.514+1569C>A) c.*418C>A (n.*418C>A) c.3933C>A (p.Ala1311=) c.3903C>A (p.Ala1301=) c.4029C>A (p.Ala1343=) c.3318C>A (p.Ala1106=) c.3597+1030C>A (n.3597+1030C>A) c.3547+1569C>A (n.3547+1569C>A) c.3255C>A (p.Ala1085=) c.3222C>A (p.Ala1074=) c.3435C>A (p.Ala1145=) | gnomAD v4 |
X | g.53234754G>A | CA413140111 | IQSEC2 | c.4091C>T (p.Ala1364Val) c.1453+1029C>T c.962+1029C>T c.316+1568C>T (n.316+1568C>T) c.514+1568C>T (n.514+1568C>T) c.*417C>T (n.*417C>T) c.3932C>T (p.Ala1311Val) c.3902C>T (p.Ala1301Val) c.4028C>T (p.Ala1343Val) c.3317C>T (p.Ala1106Val) c.3597+1029C>T (n.3597+1029C>T) c.3547+1568C>T (n.3547+1568C>T) c.3254C>T (p.Ala1085Val) c.3221C>T (p.Ala1074Val) c.3434C>T (p.Ala1145Val) | |
X | g.53234754G>C | CA413140112 | IQSEC2 | c.4091C>G (p.Ala1364Gly) c.1453+1029C>G c.962+1029C>G c.316+1568C>G (n.316+1568C>G) c.514+1568C>G (n.514+1568C>G) c.*417C>G (n.*417C>G) c.3932C>G (p.Ala1311Gly) c.3902C>G (p.Ala1301Gly) c.4028C>G (p.Ala1343Gly) c.3317C>G (p.Ala1106Gly) c.3597+1029C>G (n.3597+1029C>G) c.3547+1568C>G (n.3547+1568C>G) c.3254C>G (p.Ala1085Gly) c.3221C>G (p.Ala1074Gly) c.3434C>G (p.Ala1145Gly) | |
X | g.53234754G>T | CA413140114 | IQSEC2 | c.4091C>A (p.Ala1364Asp) c.1453+1029C>A c.962+1029C>A c.316+1568C>A (n.316+1568C>A) c.514+1568C>A (n.514+1568C>A) c.*417C>A (n.*417C>A) c.3932C>A (p.Ala1311Asp) c.3902C>A (p.Ala1301Asp) c.4028C>A (p.Ala1343Asp) c.3317C>A (p.Ala1106Asp) c.3597+1029C>A (n.3597+1029C>A) c.3547+1568C>A (n.3547+1568C>A) c.3254C>A (p.Ala1085Asp) c.3221C>A (p.Ala1074Asp) c.3434C>A (p.Ala1145Asp) | gnomAD v4 |
X | g.53234755C>A | CA413140116 | IQSEC2 | c.4090G>T (p.Ala1364Ser) c.1453+1028G>T c.962+1028G>T c.316+1567G>T (n.316+1567G>T) c.514+1567G>T (n.514+1567G>T) c.*416G>T (n.*416G>T) c.3931G>T (p.Ala1311Ser) c.3901G>T (p.Ala1301Ser) c.4027G>T (p.Ala1343Ser) c.3316G>T (p.Ala1106Ser) c.3597+1028G>T (n.3597+1028G>T) c.3547+1567G>T (n.3547+1567G>T) c.3253G>T (p.Ala1085Ser) c.3220G>T (p.Ala1074Ser) c.3433G>T (p.Ala1145Ser) | gnomAD v4 |
X | g.53234755C= | CA2429770581 | IQSEC2 | c.4090G= (p.Ala1364=) c.1453+1028G= c.962+1028G= c.316+1567G= (n.316+1567G=) c.514+1567G= (n.514+1567G=) c.*416G= (n.*416G=) c.3931G= (p.Ala1311=) c.3901G= (p.Ala1301=) c.4027G= (p.Ala1343=) c.3316G= (p.Ala1106=) c.3597+1028G= (n.3597+1028G=) c.3547+1567G= (n.3547+1567G=) c.3253G= (p.Ala1085=) c.3220G= (p.Ala1074=) c.3433G= (p.Ala1145=) | |
X | g.53234755C>G | CA413140117 | IQSEC2 | c.4090G>C (p.Ala1364Pro) c.1453+1028G>C c.962+1028G>C c.316+1567G>C (n.316+1567G>C) c.514+1567G>C (n.514+1567G>C) c.*416G>C (n.*416G>C) c.3931G>C (p.Ala1311Pro) c.3901G>C (p.Ala1301Pro) c.4027G>C (p.Ala1343Pro) c.3316G>C (p.Ala1106Pro) c.3597+1028G>C (n.3597+1028G>C) c.3547+1567G>C (n.3547+1567G>C) c.3253G>C (p.Ala1085Pro) c.3220G>C (p.Ala1074Pro) c.3433G>C (p.Ala1145Pro) | |
X | g.53234755C>T | CA413140119 | IQSEC2 | c.4090G>A (p.Ala1364Thr) c.1453+1028G>A c.962+1028G>A c.316+1567G>A (n.316+1567G>A) c.514+1567G>A (n.514+1567G>A) c.*416G>A (n.*416G>A) c.3931G>A (p.Ala1311Thr) c.3901G>A (p.Ala1301Thr) c.4027G>A (p.Ala1343Thr) c.3316G>A (p.Ala1106Thr) c.3597+1028G>A (n.3597+1028G>A) c.3547+1567G>A (n.3547+1567G>A) c.3253G>A (p.Ala1085Thr) c.3220G>A (p.Ala1074Thr) c.3433G>A (p.Ala1145Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.53234756G>A | CA329162063 | IQSEC2 | c.4089C>T (p.Pro1363=) c.1453+1027C>T c.962+1027C>T c.316+1566C>T (n.316+1566C>T) c.514+1566C>T (n.514+1566C>T) c.*415C>T (n.*415C>T) c.3930C>T (p.Pro1310=) c.3900C>T (p.Pro1300=) c.4026C>T (p.Pro1342=) c.3315C>T (p.Pro1105=) c.3597+1027C>T (n.3597+1027C>T) c.3547+1566C>T (n.3547+1566C>T) c.3252C>T (p.Pro1084=) c.3219C>T (p.Pro1073=) c.3432C>T (p.Pro1144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234756G>C | CA516673575 | IQSEC2 | c.4089C>G (p.Pro1363=) c.1453+1027C>G c.962+1027C>G c.316+1566C>G (n.316+1566C>G) c.514+1566C>G (n.514+1566C>G) c.*415C>G (n.*415C>G) c.3930C>G (p.Pro1310=) c.3900C>G (p.Pro1300=) c.4026C>G (p.Pro1342=) c.3315C>G (p.Pro1105=) c.3597+1027C>G (n.3597+1027C>G) c.3547+1566C>G (n.3547+1566C>G) c.3252C>G (p.Pro1084=) c.3219C>G (p.Pro1073=) c.3432C>G (p.Pro1144=) | dbSNP |
X | g.53234756G= | CA2429770582 | IQSEC2 | c.4089C= (p.Pro1363=) c.1453+1027C= c.962+1027C= c.316+1566C= (n.316+1566C=) c.514+1566C= (n.514+1566C=) c.*415C= (n.*415C=) c.3930C= (p.Pro1310=) c.3900C= (p.Pro1300=) c.4026C= (p.Pro1342=) c.3315C= (p.Pro1105=) c.3597+1027C= (n.3597+1027C=) c.3547+1566C= (n.3547+1566C=) c.3252C= (p.Pro1084=) c.3219C= (p.Pro1073=) c.3432C= (p.Pro1144=) | |
X | g.53234756G>T | CA516673576 | IQSEC2 | c.4089C>A (p.Pro1363=) c.1453+1027C>A c.962+1027C>A c.316+1566C>A (n.316+1566C>A) c.514+1566C>A (n.514+1566C>A) c.*415C>A (n.*415C>A) c.3930C>A (p.Pro1310=) c.3900C>A (p.Pro1300=) c.4026C>A (p.Pro1342=) c.3315C>A (p.Pro1105=) c.3597+1027C>A (n.3597+1027C>A) c.3547+1566C>A (n.3547+1566C>A) c.3252C>A (p.Pro1084=) c.3219C>A (p.Pro1073=) c.3432C>A (p.Pro1144=) | |
X | g.53234758dup | CA2843565910 | IQSEC2 | c.4089dup (p.Ala1364ArgfsTer?) c.1453+1027dup c.962+1027dup c.316+1566dup (n.316+1566dup) c.514+1566dup (n.514+1566dup) c.*415dup (n.*415dup) c.3930dup (p.Ala1311ArgfsTer?) c.3900dup (p.Ala1301ArgfsTer?) c.4026dup (p.Ala1343ArgfsTer?) c.3315dup (p.Ala1106ArgfsTer?) c.3597+1027dup (n.3597+1027dup) c.3547+1566dup (n.3547+1566dup) c.3252dup (p.Ala1085ArgfsTer?) c.3219dup (p.Ala1074ArgfsTer?) c.3432dup (p.Ala1145ArgfsTer?) | |
X | g.53234757G>A | CA413140121 | IQSEC2 | c.4088C>T (p.Pro1363Leu) c.1453+1026C>T c.962+1026C>T c.316+1565C>T (n.316+1565C>T) c.514+1565C>T (n.514+1565C>T) c.*414C>T (n.*414C>T) c.3929C>T (p.Pro1310Leu) c.3899C>T (p.Pro1300Leu) c.4025C>T (p.Pro1342Leu) c.3314C>T (p.Pro1105Leu) c.3597+1026C>T (n.3597+1026C>T) c.3547+1565C>T (n.3547+1565C>T) c.3251C>T (p.Pro1084Leu) c.3218C>T (p.Pro1073Leu) c.3431C>T (p.Pro1144Leu) | gnomAD v4 |
X | g.53234757G>C | CA413140123 | IQSEC2 | c.4088C>G (p.Pro1363Arg) c.1453+1026C>G c.962+1026C>G c.316+1565C>G (n.316+1565C>G) c.514+1565C>G (n.514+1565C>G) c.*414C>G (n.*414C>G) c.3929C>G (p.Pro1310Arg) c.3899C>G (p.Pro1300Arg) c.4025C>G (p.Pro1342Arg) c.3314C>G (p.Pro1105Arg) c.3597+1026C>G (n.3597+1026C>G) c.3547+1565C>G (n.3547+1565C>G) c.3251C>G (p.Pro1084Arg) c.3218C>G (p.Pro1073Arg) c.3431C>G (p.Pro1144Arg) | |
X | g.53234757G>T | CA413140124 | IQSEC2 | c.4088C>A (p.Pro1363His) c.1453+1026C>A c.962+1026C>A c.316+1565C>A (n.316+1565C>A) c.514+1565C>A (n.514+1565C>A) c.*414C>A (n.*414C>A) c.3929C>A (p.Pro1310His) c.3899C>A (p.Pro1300His) c.4025C>A (p.Pro1342His) c.3314C>A (p.Pro1105His) c.3597+1026C>A (n.3597+1026C>A) c.3547+1565C>A (n.3547+1565C>A) c.3251C>A (p.Pro1084His) c.3218C>A (p.Pro1073His) c.3431C>A (p.Pro1144His) | gnomAD v4 |
X | g.53234758G>A | CA413140126 | IQSEC2 | c.4087C>T (p.Pro1363Ser) c.1453+1025C>T c.962+1025C>T c.316+1564C>T (n.316+1564C>T) c.514+1564C>T (n.514+1564C>T) c.*413C>T (n.*413C>T) c.3928C>T (p.Pro1310Ser) c.3898C>T (p.Pro1300Ser) c.4024C>T (p.Pro1342Ser) c.3313C>T (p.Pro1105Ser) c.3597+1025C>T (n.3597+1025C>T) c.3547+1564C>T (n.3547+1564C>T) c.3250C>T (p.Pro1084Ser) c.3217C>T (p.Pro1073Ser) c.3430C>T (p.Pro1144Ser) | gnomAD v4 |
X | g.53234758G>C | CA413140128 | IQSEC2 | c.4087C>G (p.Pro1363Ala) c.1453+1025C>G c.962+1025C>G c.316+1564C>G (n.316+1564C>G) c.514+1564C>G (n.514+1564C>G) c.*413C>G (n.*413C>G) c.3928C>G (p.Pro1310Ala) c.3898C>G (p.Pro1300Ala) c.4024C>G (p.Pro1342Ala) c.3313C>G (p.Pro1105Ala) c.3597+1025C>G (n.3597+1025C>G) c.3547+1564C>G (n.3547+1564C>G) c.3250C>G (p.Pro1084Ala) c.3217C>G (p.Pro1073Ala) c.3430C>G (p.Pro1144Ala) | |
X | g.53234758G>T | CA413140129 | IQSEC2 | c.4087C>A (p.Pro1363Thr) c.1453+1025C>A c.962+1025C>A c.316+1564C>A (n.316+1564C>A) c.514+1564C>A (n.514+1564C>A) c.*413C>A (n.*413C>A) c.3928C>A (p.Pro1310Thr) c.3898C>A (p.Pro1300Thr) c.4024C>A (p.Pro1342Thr) c.3313C>A (p.Pro1105Thr) c.3597+1025C>A (n.3597+1025C>A) c.3547+1564C>A (n.3547+1564C>A) c.3250C>A (p.Pro1084Thr) c.3217C>A (p.Pro1073Thr) c.3430C>A (p.Pro1144Thr) | gnomAD v4 |
X | g.53234759A>C | CA516673578 | IQSEC2 | c.4086T>G (p.Pro1362=) c.1453+1024T>G c.962+1024T>G c.316+1563T>G (n.316+1563T>G) c.514+1563T>G (n.514+1563T>G) c.*412T>G (n.*412T>G) c.3927T>G (p.Pro1309=) c.3897T>G (p.Pro1299=) c.4023T>G (p.Pro1341=) c.3312T>G (p.Pro1104=) c.3597+1024T>G (n.3597+1024T>G) c.3547+1563T>G (n.3547+1563T>G) c.3249T>G (p.Pro1083=) c.3216T>G (p.Pro1072=) c.3429T>G (p.Pro1143=) | |
X | g.53234759A>G | CA516673579 | IQSEC2 | c.4086T>C (p.Pro1362=) c.1453+1024T>C c.962+1024T>C c.316+1563T>C (n.316+1563T>C) c.514+1563T>C (n.514+1563T>C) c.*412T>C (n.*412T>C) c.3927T>C (p.Pro1309=) c.3897T>C (p.Pro1299=) c.4023T>C (p.Pro1341=) c.3312T>C (p.Pro1104=) c.3597+1024T>C (n.3597+1024T>C) c.3547+1563T>C (n.3547+1563T>C) c.3249T>C (p.Pro1083=) c.3216T>C (p.Pro1072=) c.3429T>C (p.Pro1143=) | |
X | g.53234759A>T | CA516673580 | IQSEC2 | c.4086T>A (p.Pro1362=) c.1453+1024T>A c.962+1024T>A c.316+1563T>A (n.316+1563T>A) c.514+1563T>A (n.514+1563T>A) c.*412T>A (n.*412T>A) c.3927T>A (p.Pro1309=) c.3897T>A (p.Pro1299=) c.4023T>A (p.Pro1341=) c.3312T>A (p.Pro1104=) c.3597+1024T>A (n.3597+1024T>A) c.3547+1563T>A (n.3547+1563T>A) c.3249T>A (p.Pro1083=) c.3216T>A (p.Pro1072=) c.3429T>A (p.Pro1143=) | |
X | g.53234760G>A | CA413140134 | IQSEC2 | c.4085C>T (p.Pro1362Leu) c.1453+1023C>T c.962+1023C>T c.316+1562C>T (n.316+1562C>T) c.514+1562C>T (n.514+1562C>T) c.*411C>T (n.*411C>T) c.3926C>T (p.Pro1309Leu) c.3896C>T (p.Pro1299Leu) c.4022C>T (p.Pro1341Leu) c.3311C>T (p.Pro1104Leu) c.3597+1023C>T (n.3597+1023C>T) c.3547+1562C>T (n.3547+1562C>T) c.3248C>T (p.Pro1083Leu) c.3215C>T (p.Pro1072Leu) c.3428C>T (p.Pro1143Leu) | |
X | g.53234760G>C | CA413140132 | IQSEC2 | c.4085C>G (p.Pro1362Arg) c.1453+1023C>G c.962+1023C>G c.316+1562C>G (n.316+1562C>G) c.514+1562C>G (n.514+1562C>G) c.*411C>G (n.*411C>G) c.3926C>G (p.Pro1309Arg) c.3896C>G (p.Pro1299Arg) c.4022C>G (p.Pro1341Arg) c.3311C>G (p.Pro1104Arg) c.3597+1023C>G (n.3597+1023C>G) c.3547+1562C>G (n.3547+1562C>G) c.3248C>G (p.Pro1083Arg) c.3215C>G (p.Pro1072Arg) c.3428C>G (p.Pro1143Arg) | |
X | g.53234760G>T | CA413140131 | IQSEC2 | c.4085C>A (p.Pro1362His) c.1453+1023C>A c.962+1023C>A c.316+1562C>A (n.316+1562C>A) c.514+1562C>A (n.514+1562C>A) c.*411C>A (n.*411C>A) c.3926C>A (p.Pro1309His) c.3896C>A (p.Pro1299His) c.4022C>A (p.Pro1341His) c.3311C>A (p.Pro1104His) c.3597+1023C>A (n.3597+1023C>A) c.3547+1562C>A (n.3547+1562C>A) c.3248C>A (p.Pro1083His) c.3215C>A (p.Pro1072His) c.3428C>A (p.Pro1143His) | |
X | g.53234761G>A | CA413140136 | IQSEC2 | c.4084C>T (p.Pro1362Ser) c.1453+1022C>T c.962+1022C>T c.316+1561C>T (n.316+1561C>T) c.514+1561C>T (n.514+1561C>T) c.*410C>T (n.*410C>T) c.3925C>T (p.Pro1309Ser) c.3895C>T (p.Pro1299Ser) c.4021C>T (p.Pro1341Ser) c.3310C>T (p.Pro1104Ser) c.3597+1022C>T (n.3597+1022C>T) c.3547+1561C>T (n.3547+1561C>T) c.3247C>T (p.Pro1083Ser) c.3214C>T (p.Pro1072Ser) c.3427C>T (p.Pro1143Ser) | gnomAD v4 |
X | g.53234761G>C | CA413140139 | IQSEC2 | c.4084C>G (p.Pro1362Ala) c.1453+1022C>G c.962+1022C>G c.316+1561C>G (n.316+1561C>G) c.514+1561C>G (n.514+1561C>G) c.*410C>G (n.*410C>G) c.3925C>G (p.Pro1309Ala) c.3895C>G (p.Pro1299Ala) c.4021C>G (p.Pro1341Ala) c.3310C>G (p.Pro1104Ala) c.3597+1022C>G (n.3597+1022C>G) c.3547+1561C>G (n.3547+1561C>G) c.3247C>G (p.Pro1083Ala) c.3214C>G (p.Pro1072Ala) c.3427C>G (p.Pro1143Ala) | |
X | g.53234761G>T | CA413140137 | IQSEC2 | c.4084C>A (p.Pro1362Thr) c.1453+1022C>A c.962+1022C>A c.316+1561C>A (n.316+1561C>A) c.514+1561C>A (n.514+1561C>A) c.*410C>A (n.*410C>A) c.3925C>A (p.Pro1309Thr) c.3895C>A (p.Pro1299Thr) c.4021C>A (p.Pro1341Thr) c.3310C>A (p.Pro1104Thr) c.3597+1022C>A (n.3597+1022C>A) c.3547+1561C>A (n.3547+1561C>A) c.3247C>A (p.Pro1083Thr) c.3214C>A (p.Pro1072Thr) c.3427C>A (p.Pro1143Thr) | |
X | g.53234762_53234763del | CA2579614578 | IQSEC2 | c.4083_4084del (p.Pro1362SerfsTer?) c.1453+1021_1453+1022del c.962+1021_962+1022del c.316+1560_316+1561del (n.316+1560_316+1561del) c.514+1560_514+1561del (n.514+1560_514+1561del) c.*409_*410del (n.*409_*410del) c.3924_3925del (p.Pro1309SerfsTer?) c.3894_3895del (p.Pro1299SerfsTer?) c.4020_4021del (p.Pro1341SerfsTer?) c.3309_3310del (p.Pro1104SerfsTer?) c.3597+1021_3597+1022del (n.3597+1021_3597+1022del) c.3547+1560_3547+1561del (n.3547+1560_3547+1561del) c.3246_3247del (p.Pro1083SerfsTer?) c.3213_3214del (p.Pro1072SerfsTer?) c.3426_3427del (p.Pro1143SerfsTer?) | |
X | g.53234762C>A | CA516673582 | IQSEC2 | c.4083G>T (p.Pro1361=) c.1453+1021G>T c.962+1021G>T c.316+1560G>T (n.316+1560G>T) c.514+1560G>T (n.514+1560G>T) c.*409G>T (n.*409G>T) c.3924G>T (p.Pro1308=) c.3894G>T (p.Pro1298=) c.4020G>T (p.Pro1340=) c.3309G>T (p.Pro1103=) c.3597+1021G>T (n.3597+1021G>T) c.3547+1560G>T (n.3547+1560G>T) c.3246G>T (p.Pro1082=) c.3213G>T (p.Pro1071=) c.3426G>T (p.Pro1142=) | gnomAD v4 |
X | g.53234762C= | CA2429770583 | IQSEC2 | c.4083G= (p.Pro1361=) c.1453+1021G= c.962+1021G= c.316+1560G= (n.316+1560G=) c.514+1560G= (n.514+1560G=) c.*409G= (n.*409G=) c.3924G= (p.Pro1308=) c.3894G= (p.Pro1298=) c.4020G= (p.Pro1340=) c.3309G= (p.Pro1103=) c.3597+1021G= (n.3597+1021G=) c.3547+1560G= (n.3547+1560G=) c.3246G= (p.Pro1082=) c.3213G= (p.Pro1071=) c.3426G= (p.Pro1142=) | |
X | g.53234762C>G | CA516673581 | IQSEC2 | c.4083G>C (p.Pro1361=) c.1453+1021G>C c.962+1021G>C c.316+1560G>C (n.316+1560G>C) c.514+1560G>C (n.514+1560G>C) c.*409G>C (n.*409G>C) c.3924G>C (p.Pro1308=) c.3894G>C (p.Pro1298=) c.4020G>C (p.Pro1340=) c.3309G>C (p.Pro1103=) c.3597+1021G>C (n.3597+1021G>C) c.3547+1560G>C (n.3547+1560G>C) c.3246G>C (p.Pro1082=) c.3213G>C (p.Pro1071=) c.3426G>C (p.Pro1142=) | |
X | g.53234762C>T | CA516673583 | IQSEC2 | c.4083G>A (p.Pro1361=) c.1453+1021G>A c.962+1021G>A c.316+1560G>A (n.316+1560G>A) c.514+1560G>A (n.514+1560G>A) c.*409G>A (n.*409G>A) c.3924G>A (p.Pro1308=) c.3894G>A (p.Pro1298=) c.4020G>A (p.Pro1340=) c.3309G>A (p.Pro1103=) c.3597+1021G>A (n.3597+1021G>A) c.3547+1560G>A (n.3547+1560G>A) c.3246G>A (p.Pro1082=) c.3213G>A (p.Pro1071=) c.3426G>A (p.Pro1142=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234763G>A | CA413140141 | IQSEC2 | c.4082C>T (p.Pro1361Leu) c.1453+1020C>T c.962+1020C>T c.316+1559C>T (n.316+1559C>T) c.514+1559C>T (n.514+1559C>T) c.*408C>T (n.*408C>T) c.3923C>T (p.Pro1308Leu) c.3893C>T (p.Pro1298Leu) c.4019C>T (p.Pro1340Leu) c.3308C>T (p.Pro1103Leu) c.3597+1020C>T (n.3597+1020C>T) c.3547+1559C>T (n.3547+1559C>T) c.3245C>T (p.Pro1082Leu) c.3212C>T (p.Pro1071Leu) c.3425C>T (p.Pro1142Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53234763G>C | CA413140144 | IQSEC2 | c.4082C>G (p.Pro1361Arg) c.1453+1020C>G c.962+1020C>G c.316+1559C>G (n.316+1559C>G) c.514+1559C>G (n.514+1559C>G) c.*408C>G (n.*408C>G) c.3923C>G (p.Pro1308Arg) c.3893C>G (p.Pro1298Arg) c.4019C>G (p.Pro1340Arg) c.3308C>G (p.Pro1103Arg) c.3597+1020C>G (n.3597+1020C>G) c.3547+1559C>G (n.3547+1559C>G) c.3245C>G (p.Pro1082Arg) c.3212C>G (p.Pro1071Arg) c.3425C>G (p.Pro1142Arg) | |
X | g.53234763G= | CA2429770584 | IQSEC2 | c.4082C= (p.Pro1361=) c.1453+1020C= c.962+1020C= c.316+1559C= (n.316+1559C=) c.514+1559C= (n.514+1559C=) c.*408C= (n.*408C=) c.3923C= (p.Pro1308=) c.3893C= (p.Pro1298=) c.4019C= (p.Pro1340=) c.3308C= (p.Pro1103=) c.3597+1020C= (n.3597+1020C=) c.3547+1559C= (n.3547+1559C=) c.3245C= (p.Pro1082=) c.3212C= (p.Pro1071=) c.3425C= (p.Pro1142=) | |
X | g.53234763G>T | CA413140142 | IQSEC2 | c.4082C>A (p.Pro1361Gln) c.1453+1020C>A c.962+1020C>A c.316+1559C>A (n.316+1559C>A) c.514+1559C>A (n.514+1559C>A) c.*408C>A (n.*408C>A) c.3923C>A (p.Pro1308Gln) c.3893C>A (p.Pro1298Gln) c.4019C>A (p.Pro1340Gln) c.3308C>A (p.Pro1103Gln) c.3597+1020C>A (n.3597+1020C>A) c.3547+1559C>A (n.3547+1559C>A) c.3245C>A (p.Pro1082Gln) c.3212C>A (p.Pro1071Gln) c.3425C>A (p.Pro1142Gln) | |
X | g.53234764G>A | CA413140146 | IQSEC2 | c.4081C>T (p.Pro1361Ser) c.1453+1019C>T c.962+1019C>T c.316+1558C>T (n.316+1558C>T) c.514+1558C>T (n.514+1558C>T) c.*407C>T (n.*407C>T) c.3922C>T (p.Pro1308Ser) c.3892C>T (p.Pro1298Ser) c.4018C>T (p.Pro1340Ser) c.3307C>T (p.Pro1103Ser) c.3597+1019C>T (n.3597+1019C>T) c.3547+1558C>T (n.3547+1558C>T) c.3244C>T (p.Pro1082Ser) c.3211C>T (p.Pro1071Ser) c.3424C>T (p.Pro1142Ser) | gnomAD v4 |
X | g.53234764G>C | CA413140149 | IQSEC2 | c.4081C>G (p.Pro1361Ala) c.1453+1019C>G c.962+1019C>G c.316+1558C>G (n.316+1558C>G) c.514+1558C>G (n.514+1558C>G) c.*407C>G (n.*407C>G) c.3922C>G (p.Pro1308Ala) c.3892C>G (p.Pro1298Ala) c.4018C>G (p.Pro1340Ala) c.3307C>G (p.Pro1103Ala) c.3597+1019C>G (n.3597+1019C>G) c.3547+1558C>G (n.3547+1558C>G) c.3244C>G (p.Pro1082Ala) c.3211C>G (p.Pro1071Ala) c.3424C>G (p.Pro1142Ala) | |
X | g.53234764G>T | CA413140147 | IQSEC2 | c.4081C>A (p.Pro1361Thr) c.1453+1019C>A c.962+1019C>A c.316+1558C>A (n.316+1558C>A) c.514+1558C>A (n.514+1558C>A) c.*407C>A (n.*407C>A) c.3922C>A (p.Pro1308Thr) c.3892C>A (p.Pro1298Thr) c.4018C>A (p.Pro1340Thr) c.3307C>A (p.Pro1103Thr) c.3597+1019C>A (n.3597+1019C>A) c.3547+1558C>A (n.3547+1558C>A) c.3244C>A (p.Pro1082Thr) c.3211C>A (p.Pro1071Thr) c.3424C>A (p.Pro1142Thr) | |
X | g.53234765T>A | CA516673587 | IQSEC2 | c.4080A>T (p.Pro1360=) c.1453+1018A>T c.962+1018A>T c.316+1557A>T (n.316+1557A>T) c.514+1557A>T (n.514+1557A>T) c.*406A>T (n.*406A>T) c.3921A>T (p.Pro1307=) c.3891A>T (p.Pro1297=) c.4017A>T (p.Pro1339=) c.3306A>T (p.Pro1102=) c.3597+1018A>T (n.3597+1018A>T) c.3547+1557A>T (n.3547+1557A>T) c.3243A>T (p.Pro1081=) c.3210A>T (p.Pro1070=) c.3423A>T (p.Pro1141=) | |
X | g.53234765T>C | CA516673588 | IQSEC2 | c.4080A>G (p.Pro1360=) c.1453+1018A>G c.962+1018A>G c.316+1557A>G (n.316+1557A>G) c.514+1557A>G (n.514+1557A>G) c.*406A>G (n.*406A>G) c.3921A>G (p.Pro1307=) c.3891A>G (p.Pro1297=) c.4017A>G (p.Pro1339=) c.3306A>G (p.Pro1102=) c.3597+1018A>G (n.3597+1018A>G) c.3547+1557A>G (n.3547+1557A>G) c.3243A>G (p.Pro1081=) c.3210A>G (p.Pro1070=) c.3423A>G (p.Pro1141=) | gnomAD v4 |
X | g.53234765T>G | CA516673589 | IQSEC2 | c.4080A>C (p.Pro1360=) c.1453+1018A>C c.962+1018A>C c.316+1557A>C (n.316+1557A>C) c.514+1557A>C (n.514+1557A>C) c.*406A>C (n.*406A>C) c.3921A>C (p.Pro1307=) c.3891A>C (p.Pro1297=) c.4017A>C (p.Pro1339=) c.3306A>C (p.Pro1102=) c.3597+1018A>C (n.3597+1018A>C) c.3547+1557A>C (n.3547+1557A>C) c.3243A>C (p.Pro1081=) c.3210A>C (p.Pro1070=) c.3423A>C (p.Pro1141=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53234765T= | CA2429770585 | IQSEC2 | c.4080A= (p.Pro1360=) c.1453+1018A= c.962+1018A= c.316+1557A= (n.316+1557A=) c.514+1557A= (n.514+1557A=) c.*406A= (n.*406A=) c.3921A= (p.Pro1307=) c.3891A= (p.Pro1297=) c.4017A= (p.Pro1339=) c.3306A= (p.Pro1102=) c.3597+1018A= (n.3597+1018A=) c.3547+1557A= (n.3547+1557A=) c.3243A= (p.Pro1081=) c.3210A= (p.Pro1070=) c.3423A= (p.Pro1141=) | |
X | g.53234766G>A | CA413140151 | IQSEC2 | c.4079C>T (p.Pro1360Leu) c.1453+1017C>T c.962+1017C>T c.316+1556C>T (n.316+1556C>T) c.514+1556C>T (n.514+1556C>T) c.*405C>T (n.*405C>T) c.3920C>T (p.Pro1307Leu) c.3890C>T (p.Pro1297Leu) c.4016C>T (p.Pro1339Leu) c.3305C>T (p.Pro1102Leu) c.3597+1017C>T (n.3597+1017C>T) c.3547+1556C>T (n.3547+1556C>T) c.3242C>T (p.Pro1081Leu) c.3209C>T (p.Pro1070Leu) c.3422C>T (p.Pro1141Leu) | |
X | g.53234766G>C | CA413140154 | IQSEC2 | c.4079C>G (p.Pro1360Arg) c.1453+1017C>G c.962+1017C>G c.316+1556C>G (n.316+1556C>G) c.514+1556C>G (n.514+1556C>G) c.*405C>G (n.*405C>G) c.3920C>G (p.Pro1307Arg) c.3890C>G (p.Pro1297Arg) c.4016C>G (p.Pro1339Arg) c.3305C>G (p.Pro1102Arg) c.3597+1017C>G (n.3597+1017C>G) c.3547+1556C>G (n.3547+1556C>G) c.3242C>G (p.Pro1081Arg) c.3209C>G (p.Pro1070Arg) c.3422C>G (p.Pro1141Arg) | |
X | g.53234766G= | CA2429770586 | IQSEC2 | c.4079C= (p.Pro1360=) c.1453+1017C= c.962+1017C= c.316+1556C= (n.316+1556C=) c.514+1556C= (n.514+1556C=) c.*405C= (n.*405C=) c.3920C= (p.Pro1307=) c.3890C= (p.Pro1297=) c.4016C= (p.Pro1339=) c.3305C= (p.Pro1102=) c.3597+1017C= (n.3597+1017C=) c.3547+1556C= (n.3547+1556C=) c.3242C= (p.Pro1081=) c.3209C= (p.Pro1070=) c.3422C= (p.Pro1141=) | |
X | g.53234766G>T | CA413140152 | IQSEC2 | c.4079C>A (p.Pro1360Gln) c.1453+1017C>A c.962+1017C>A c.316+1556C>A (n.316+1556C>A) c.514+1556C>A (n.514+1556C>A) c.*405C>A (n.*405C>A) c.3920C>A (p.Pro1307Gln) c.3890C>A (p.Pro1297Gln) c.4016C>A (p.Pro1339Gln) c.3305C>A (p.Pro1102Gln) c.3597+1017C>A (n.3597+1017C>A) c.3547+1556C>A (n.3547+1556C>A) c.3242C>A (p.Pro1081Gln) c.3209C>A (p.Pro1070Gln) c.3422C>A (p.Pro1141Gln) | dbSNP gnomAD v4 |
X | g.53234767G>A | CA413140156 | IQSEC2 | c.4078C>T (p.Pro1360Ser) c.1453+1016C>T c.962+1016C>T c.316+1555C>T (n.316+1555C>T) c.514+1555C>T (n.514+1555C>T) c.*404C>T (n.*404C>T) c.3919C>T (p.Pro1307Ser) c.3889C>T (p.Pro1297Ser) c.4015C>T (p.Pro1339Ser) c.3304C>T (p.Pro1102Ser) c.3597+1016C>T (n.3597+1016C>T) c.3547+1555C>T (n.3547+1555C>T) c.3241C>T (p.Pro1081Ser) c.3208C>T (p.Pro1070Ser) c.3421C>T (p.Pro1141Ser) | gnomAD v4 |
X | g.53234767G>C | CA413140158 | IQSEC2 | c.4078C>G (p.Pro1360Ala) c.1453+1016C>G c.962+1016C>G c.316+1555C>G (n.316+1555C>G) c.514+1555C>G (n.514+1555C>G) c.*404C>G (n.*404C>G) c.3919C>G (p.Pro1307Ala) c.3889C>G (p.Pro1297Ala) c.4015C>G (p.Pro1339Ala) c.3304C>G (p.Pro1102Ala) c.3597+1016C>G (n.3597+1016C>G) c.3547+1555C>G (n.3547+1555C>G) c.3241C>G (p.Pro1081Ala) c.3208C>G (p.Pro1070Ala) c.3421C>G (p.Pro1141Ala) | |
X | g.53234767G>T | CA413140159 | IQSEC2 | c.4078C>A (p.Pro1360Thr) c.1453+1016C>A c.962+1016C>A c.316+1555C>A (n.316+1555C>A) c.514+1555C>A (n.514+1555C>A) c.*404C>A (n.*404C>A) c.3919C>A (p.Pro1307Thr) c.3889C>A (p.Pro1297Thr) c.4015C>A (p.Pro1339Thr) c.3304C>A (p.Pro1102Thr) c.3597+1016C>A (n.3597+1016C>A) c.3547+1555C>A (n.3547+1555C>A) c.3241C>A (p.Pro1081Thr) c.3208C>A (p.Pro1070Thr) c.3421C>A (p.Pro1141Thr) | gnomAD v4 |
X | g.53234768A>C | CA413140161 | IQSEC2 | c.4077T>G (p.Ile1359Met) c.1453+1015T>G c.962+1015T>G c.316+1554T>G (n.316+1554T>G) c.514+1554T>G (n.514+1554T>G) c.*403T>G (n.*403T>G) c.3918T>G (p.Ile1306Met) c.3888T>G (p.Ile1296Met) c.4014T>G (p.Ile1338Met) c.3303T>G (p.Ile1101Met) c.3597+1015T>G (n.3597+1015T>G) c.3547+1554T>G (n.3547+1554T>G) c.3240T>G (p.Ile1080Met) c.3207T>G (p.Ile1069Met) c.3420T>G (p.Ile1140Met) | |
X | g.53234768A>G | CA516673592 | IQSEC2 | c.4077T>C (p.Ile1359=) c.1453+1015T>C c.962+1015T>C c.316+1554T>C (n.316+1554T>C) c.514+1554T>C (n.514+1554T>C) c.*403T>C (n.*403T>C) c.3918T>C (p.Ile1306=) c.3888T>C (p.Ile1296=) c.4014T>C (p.Ile1338=) c.3303T>C (p.Ile1101=) c.3597+1015T>C (n.3597+1015T>C) c.3547+1554T>C (n.3547+1554T>C) c.3240T>C (p.Ile1080=) c.3207T>C (p.Ile1069=) c.3420T>C (p.Ile1140=) | dbSNP |
X | g.53234768A>T | CA516673594 | IQSEC2 | c.4077T>A (p.Ile1359=) c.1453+1015T>A c.962+1015T>A c.316+1554T>A (n.316+1554T>A) c.514+1554T>A (n.514+1554T>A) c.*403T>A (n.*403T>A) c.3918T>A (p.Ile1306=) c.3888T>A (p.Ile1296=) c.4014T>A (p.Ile1338=) c.3303T>A (p.Ile1101=) c.3597+1015T>A (n.3597+1015T>A) c.3547+1554T>A (n.3547+1554T>A) c.3240T>A (p.Ile1080=) c.3207T>A (p.Ile1069=) c.3420T>A (p.Ile1140=) | |
X | g.53234769A= | CA2429770587 | IQSEC2 | c.4076T= (p.Ile1359=) c.1453+1014T= c.962+1014T= c.316+1553T= (n.316+1553T=) c.514+1553T= (n.514+1553T=) c.*402T= (n.*402T=) c.3917T= (p.Ile1306=) c.3887T= (p.Ile1296=) c.4013T= (p.Ile1338=) c.3302T= (p.Ile1101=) c.3597+1014T= (n.3597+1014T=) c.3547+1553T= (n.3547+1553T=) c.3239T= (p.Ile1080=) c.3206T= (p.Ile1069=) c.3419T= (p.Ile1140=) | |
X | g.53234769A>C | CA413140163 | IQSEC2 | c.4076T>G (p.Ile1359Ser) c.1453+1014T>G c.962+1014T>G c.316+1553T>G (n.316+1553T>G) c.514+1553T>G (n.514+1553T>G) c.*402T>G (n.*402T>G) c.3917T>G (p.Ile1306Ser) c.3887T>G (p.Ile1296Ser) c.4013T>G (p.Ile1338Ser) c.3302T>G (p.Ile1101Ser) c.3597+1014T>G (n.3597+1014T>G) c.3547+1553T>G (n.3547+1553T>G) c.3239T>G (p.Ile1080Ser) c.3206T>G (p.Ile1069Ser) c.3419T>G (p.Ile1140Ser) | dbSNP |
X | g.53234769A>G | CA413140165 | IQSEC2 | c.4076T>C (p.Ile1359Thr) c.1453+1014T>C c.962+1014T>C c.316+1553T>C (n.316+1553T>C) c.514+1553T>C (n.514+1553T>C) c.*402T>C (n.*402T>C) c.3917T>C (p.Ile1306Thr) c.3887T>C (p.Ile1296Thr) c.4013T>C (p.Ile1338Thr) c.3302T>C (p.Ile1101Thr) c.3597+1014T>C (n.3597+1014T>C) c.3547+1553T>C (n.3547+1553T>C) c.3239T>C (p.Ile1080Thr) c.3206T>C (p.Ile1069Thr) c.3419T>C (p.Ile1140Thr) | |
X | g.53234769A>T | CA413140166 | IQSEC2 | c.4076T>A (p.Ile1359Asn) c.1453+1014T>A c.962+1014T>A c.316+1553T>A (n.316+1553T>A) c.514+1553T>A (n.514+1553T>A) c.*402T>A (n.*402T>A) c.3917T>A (p.Ile1306Asn) c.3887T>A (p.Ile1296Asn) c.4013T>A (p.Ile1338Asn) c.3302T>A (p.Ile1101Asn) c.3597+1014T>A (n.3597+1014T>A) c.3547+1553T>A (n.3547+1553T>A) c.3239T>A (p.Ile1080Asn) c.3206T>A (p.Ile1069Asn) c.3419T>A (p.Ile1140Asn) | |
X | g.53234770T>A | CA413140168 | IQSEC2 | c.4075A>T (p.Ile1359Phe) c.1453+1013A>T c.962+1013A>T c.316+1552A>T (n.316+1552A>T) c.514+1552A>T (n.514+1552A>T) c.*401A>T (n.*401A>T) c.3916A>T (p.Ile1306Phe) c.3886A>T (p.Ile1296Phe) c.4012A>T (p.Ile1338Phe) c.3301A>T (p.Ile1101Phe) c.3597+1013A>T (n.3597+1013A>T) c.3547+1552A>T (n.3547+1552A>T) c.3238A>T (p.Ile1080Phe) c.3205A>T (p.Ile1069Phe) c.3418A>T (p.Ile1140Phe) | |
X | g.53234770T>C | CA413140170 | IQSEC2 | c.4075A>G (p.Ile1359Val) c.1453+1013A>G c.962+1013A>G c.316+1552A>G (n.316+1552A>G) c.514+1552A>G (n.514+1552A>G) c.*401A>G (n.*401A>G) c.3916A>G (p.Ile1306Val) c.3886A>G (p.Ile1296Val) c.4012A>G (p.Ile1338Val) c.3301A>G (p.Ile1101Val) c.3597+1013A>G (n.3597+1013A>G) c.3547+1552A>G (n.3547+1552A>G) c.3238A>G (p.Ile1080Val) c.3205A>G (p.Ile1069Val) c.3418A>G (p.Ile1140Val) | |
X | g.53234770T>G | CA413140171 | IQSEC2 | c.4075A>C (p.Ile1359Leu) c.1453+1013A>C c.962+1013A>C c.316+1552A>C (n.316+1552A>C) c.514+1552A>C (n.514+1552A>C) c.*401A>C (n.*401A>C) c.3916A>C (p.Ile1306Leu) c.3886A>C (p.Ile1296Leu) c.4012A>C (p.Ile1338Leu) c.3301A>C (p.Ile1101Leu) c.3597+1013A>C (n.3597+1013A>C) c.3547+1552A>C (n.3547+1552A>C) c.3238A>C (p.Ile1080Leu) c.3205A>C (p.Ile1069Leu) c.3418A>C (p.Ile1140Leu) | gnomAD v4 |
X | g.53234771G>A | CA516673596 | IQSEC2 | c.4074C>T (p.Ser1358=) c.1453+1012C>T c.962+1012C>T c.316+1551C>T (n.316+1551C>T) c.514+1551C>T (n.514+1551C>T) c.*400C>T (n.*400C>T) c.3915C>T (p.Ser1305=) c.3885C>T (p.Ser1295=) c.4011C>T (p.Ser1337=) c.3300C>T (p.Ser1100=) c.3597+1012C>T (n.3597+1012C>T) c.3547+1551C>T (n.3547+1551C>T) c.3237C>T (p.Ser1079=) c.3204C>T (p.Ser1068=) c.3417C>T (p.Ser1139=) | |
X | g.53234771G>C | CA516673597 | IQSEC2 | c.4074C>G (p.Ser1358=) c.1453+1012C>G c.962+1012C>G c.316+1551C>G (n.316+1551C>G) c.514+1551C>G (n.514+1551C>G) c.*400C>G (n.*400C>G) c.3915C>G (p.Ser1305=) c.3885C>G (p.Ser1295=) c.4011C>G (p.Ser1337=) c.3300C>G (p.Ser1100=) c.3597+1012C>G (n.3597+1012C>G) c.3547+1551C>G (n.3547+1551C>G) c.3237C>G (p.Ser1079=) c.3204C>G (p.Ser1068=) c.3417C>G (p.Ser1139=) | |
X | g.53234771G>T | CA516673598 | IQSEC2 | c.4074C>A (p.Ser1358=) c.1453+1012C>A c.962+1012C>A c.316+1551C>A (n.316+1551C>A) c.514+1551C>A (n.514+1551C>A) c.*400C>A (n.*400C>A) c.3915C>A (p.Ser1305=) c.3885C>A (p.Ser1295=) c.4011C>A (p.Ser1337=) c.3300C>A (p.Ser1100=) c.3597+1012C>A (n.3597+1012C>A) c.3547+1551C>A (n.3547+1551C>A) c.3237C>A (p.Ser1079=) c.3204C>A (p.Ser1068=) c.3417C>A (p.Ser1139=) | |
X | g.53234772G>A | CA413140176 | IQSEC2 | c.4073C>T (p.Ser1358Phe) c.1453+1011C>T c.962+1011C>T c.316+1550C>T (n.316+1550C>T) c.514+1550C>T (n.514+1550C>T) c.*399C>T (n.*399C>T) c.3914C>T (p.Ser1305Phe) c.3884C>T (p.Ser1295Phe) c.4010C>T (p.Ser1337Phe) c.3299C>T (p.Ser1100Phe) c.3597+1011C>T (n.3597+1011C>T) c.3547+1550C>T (n.3547+1550C>T) c.3236C>T (p.Ser1079Phe) c.3203C>T (p.Ser1068Phe) c.3416C>T (p.Ser1139Phe) | dbSNP gnomAD v2 |
X | g.53234772G>C | CA413140173 | IQSEC2 | c.4073C>G (p.Ser1358Cys) c.1453+1011C>G c.962+1011C>G c.316+1550C>G (n.316+1550C>G) c.514+1550C>G (n.514+1550C>G) c.*399C>G (n.*399C>G) c.3914C>G (p.Ser1305Cys) c.3884C>G (p.Ser1295Cys) c.4010C>G (p.Ser1337Cys) c.3299C>G (p.Ser1100Cys) c.3597+1011C>G (n.3597+1011C>G) c.3547+1550C>G (n.3547+1550C>G) c.3236C>G (p.Ser1079Cys) c.3203C>G (p.Ser1068Cys) c.3416C>G (p.Ser1139Cys) | |
X | g.53234772G= | CA2429770588 | IQSEC2 | c.4073C= (p.Ser1358=) c.1453+1011C= c.962+1011C= c.316+1550C= (n.316+1550C=) c.514+1550C= (n.514+1550C=) c.*399C= (n.*399C=) c.3914C= (p.Ser1305=) c.3884C= (p.Ser1295=) c.4010C= (p.Ser1337=) c.3299C= (p.Ser1100=) c.3597+1011C= (n.3597+1011C=) c.3547+1550C= (n.3547+1550C=) c.3236C= (p.Ser1079=) c.3203C= (p.Ser1068=) c.3416C= (p.Ser1139=) | |
X | g.53234772G>T | CA413140175 | IQSEC2 | c.4073C>A (p.Ser1358Tyr) c.1453+1011C>A c.962+1011C>A c.316+1550C>A (n.316+1550C>A) c.514+1550C>A (n.514+1550C>A) c.*399C>A (n.*399C>A) c.3914C>A (p.Ser1305Tyr) c.3884C>A (p.Ser1295Tyr) c.4010C>A (p.Ser1337Tyr) c.3299C>A (p.Ser1100Tyr) c.3597+1011C>A (n.3597+1011C>A) c.3547+1550C>A (n.3547+1550C>A) c.3236C>A (p.Ser1079Tyr) c.3203C>A (p.Ser1068Tyr) c.3416C>A (p.Ser1139Tyr) | gnomAD v4 |
X | g.53234773A>C | CA413140178 | IQSEC2 | c.4072T>G (p.Ser1358Ala) c.1453+1010T>G c.962+1010T>G c.316+1549T>G (n.316+1549T>G) c.514+1549T>G (n.514+1549T>G) c.*398T>G (n.*398T>G) c.3913T>G (p.Ser1305Ala) c.3883T>G (p.Ser1295Ala) c.4009T>G (p.Ser1337Ala) c.3298T>G (p.Ser1100Ala) c.3597+1010T>G (n.3597+1010T>G) c.3547+1549T>G (n.3547+1549T>G) c.3235T>G (p.Ser1079Ala) c.3202T>G (p.Ser1068Ala) c.3415T>G (p.Ser1139Ala) | ClinVar gnomAD v4 |
X | g.53234773A>G | CA413140179 | IQSEC2 | c.4072T>C (p.Ser1358Pro) c.1453+1010T>C c.962+1010T>C c.316+1549T>C (n.316+1549T>C) c.514+1549T>C (n.514+1549T>C) c.*398T>C (n.*398T>C) c.3913T>C (p.Ser1305Pro) c.3883T>C (p.Ser1295Pro) c.4009T>C (p.Ser1337Pro) c.3298T>C (p.Ser1100Pro) c.3597+1010T>C (n.3597+1010T>C) c.3547+1549T>C (n.3547+1549T>C) c.3235T>C (p.Ser1079Pro) c.3202T>C (p.Ser1068Pro) c.3415T>C (p.Ser1139Pro) | |
X | g.53234773A>T | CA413140181 | IQSEC2 | c.4072T>A (p.Ser1358Thr) c.1453+1010T>A c.962+1010T>A c.316+1549T>A (n.316+1549T>A) c.514+1549T>A (n.514+1549T>A) c.*398T>A (n.*398T>A) c.3913T>A (p.Ser1305Thr) c.3883T>A (p.Ser1295Thr) c.4009T>A (p.Ser1337Thr) c.3298T>A (p.Ser1100Thr) c.3597+1010T>A (n.3597+1010T>A) c.3547+1549T>A (n.3547+1549T>A) c.3235T>A (p.Ser1079Thr) c.3202T>A (p.Ser1068Thr) c.3415T>A (p.Ser1139Thr) | |
X | g.53234774G>A | CA516673602 | IQSEC2 | c.4071C>T (p.Gly1357=) c.1453+1009C>T c.962+1009C>T c.316+1548C>T (n.316+1548C>T) c.514+1548C>T (n.514+1548C>T) c.*397C>T (n.*397C>T) c.3912C>T (p.Gly1304=) c.3882C>T (p.Gly1294=) c.4008C>T (p.Gly1336=) c.3297C>T (p.Gly1099=) c.3597+1009C>T (n.3597+1009C>T) c.3547+1548C>T (n.3547+1548C>T) c.3234C>T (p.Gly1078=) c.3201C>T (p.Gly1067=) c.3414C>T (p.Gly1138=) | |
X | g.53234774G>C | CA516673603 | IQSEC2 | c.4071C>G (p.Gly1357=) c.1453+1009C>G c.962+1009C>G c.316+1548C>G (n.316+1548C>G) c.514+1548C>G (n.514+1548C>G) c.*397C>G (n.*397C>G) c.3912C>G (p.Gly1304=) c.3882C>G (p.Gly1294=) c.4008C>G (p.Gly1336=) c.3297C>G (p.Gly1099=) c.3597+1009C>G (n.3597+1009C>G) c.3547+1548C>G (n.3547+1548C>G) c.3234C>G (p.Gly1078=) c.3201C>G (p.Gly1067=) c.3414C>G (p.Gly1138=) | gnomAD v4 |
X | g.53234774G>T | CA516673604 | IQSEC2 | c.4071C>A (p.Gly1357=) c.1453+1009C>A c.962+1009C>A c.316+1548C>A (n.316+1548C>A) c.514+1548C>A (n.514+1548C>A) c.*397C>A (n.*397C>A) c.3912C>A (p.Gly1304=) c.3882C>A (p.Gly1294=) c.4008C>A (p.Gly1336=) c.3297C>A (p.Gly1099=) c.3597+1009C>A (n.3597+1009C>A) c.3547+1548C>A (n.3547+1548C>A) c.3234C>A (p.Gly1078=) c.3201C>A (p.Gly1067=) c.3414C>A (p.Gly1138=) | |
X | g.53234775C>A | CA413140183 | IQSEC2 | c.4070G>T (p.Gly1357Val) c.1453+1008G>T c.962+1008G>T c.316+1547G>T (n.316+1547G>T) c.514+1547G>T (n.514+1547G>T) c.*396G>T (n.*396G>T) c.3911G>T (p.Gly1304Val) c.3881G>T (p.Gly1294Val) c.4007G>T (p.Gly1336Val) c.3296G>T (p.Gly1099Val) c.3597+1008G>T (n.3597+1008G>T) c.3547+1547G>T (n.3547+1547G>T) c.3233G>T (p.Gly1078Val) c.3200G>T (p.Gly1067Val) c.3413G>T (p.Gly1138Val) | gnomAD v4 |
X | g.53234775C>G | CA413140185 | IQSEC2 | c.4070G>C (p.Gly1357Ala) c.1453+1008G>C c.962+1008G>C c.316+1547G>C (n.316+1547G>C) c.514+1547G>C (n.514+1547G>C) c.*396G>C (n.*396G>C) c.3911G>C (p.Gly1304Ala) c.3881G>C (p.Gly1294Ala) c.4007G>C (p.Gly1336Ala) c.3296G>C (p.Gly1099Ala) c.3597+1008G>C (n.3597+1008G>C) c.3547+1547G>C (n.3547+1547G>C) c.3233G>C (p.Gly1078Ala) c.3200G>C (p.Gly1067Ala) c.3413G>C (p.Gly1138Ala) | |
X | g.53234775C>T | CA413140186 | IQSEC2 | c.4070G>A (p.Gly1357Asp) c.1453+1008G>A c.962+1008G>A c.316+1547G>A (n.316+1547G>A) c.514+1547G>A (n.514+1547G>A) c.*396G>A (n.*396G>A) c.3911G>A (p.Gly1304Asp) c.3881G>A (p.Gly1294Asp) c.4007G>A (p.Gly1336Asp) c.3296G>A (p.Gly1099Asp) c.3597+1008G>A (n.3597+1008G>A) c.3547+1547G>A (n.3547+1547G>A) c.3233G>A (p.Gly1078Asp) c.3200G>A (p.Gly1067Asp) c.3413G>A (p.Gly1138Asp) | gnomAD v4 |
X | g.53234777del | CA2579614582 | IQSEC2 | c.4070del (p.Gly1357AlafsTer?) c.1453+1008del c.962+1008del c.316+1547del (n.316+1547del) c.514+1547del (n.514+1547del) c.*396del (n.*396del) c.3911del (p.Gly1304AlafsTer?) c.3881del (p.Gly1294AlafsTer?) c.4007del (p.Gly1336AlafsTer?) c.3296del (p.Gly1099AlafsTer?) c.3597+1008del (n.3597+1008del) c.3547+1547del (n.3547+1547del) c.3233del (p.Gly1078AlafsTer?) c.3200del (p.Gly1067AlafsTer?) c.3413del (p.Gly1138AlafsTer?) | |
X | g.53234776C>A | CA413140189 | IQSEC2 | c.4069G>T (p.Gly1357Cys) c.1453+1007G>T c.962+1007G>T c.316+1546G>T (n.316+1546G>T) c.514+1546G>T (n.514+1546G>T) c.*395G>T (n.*395G>T) c.3910G>T (p.Gly1304Cys) c.3880G>T (p.Gly1294Cys) c.4006G>T (p.Gly1336Cys) c.3295G>T (p.Gly1099Cys) c.3597+1007G>T (n.3597+1007G>T) c.3547+1546G>T (n.3547+1546G>T) c.3232G>T (p.Gly1078Cys) c.3199G>T (p.Gly1067Cys) c.3412G>T (p.Gly1138Cys) | |
X | g.53234776C>G | CA413140190 | IQSEC2 | c.4069G>C (p.Gly1357Arg) c.1453+1007G>C c.962+1007G>C c.316+1546G>C (n.316+1546G>C) c.514+1546G>C (n.514+1546G>C) c.*395G>C (n.*395G>C) c.3910G>C (p.Gly1304Arg) c.3880G>C (p.Gly1294Arg) c.4006G>C (p.Gly1336Arg) c.3295G>C (p.Gly1099Arg) c.3597+1007G>C (n.3597+1007G>C) c.3547+1546G>C (n.3547+1546G>C) c.3232G>C (p.Gly1078Arg) c.3199G>C (p.Gly1067Arg) c.3412G>C (p.Gly1138Arg) | |
X | g.53234776C>T | CA413140191 | IQSEC2 | c.4069G>A (p.Gly1357Ser) c.1453+1007G>A c.962+1007G>A c.316+1546G>A (n.316+1546G>A) c.514+1546G>A (n.514+1546G>A) c.*395G>A (n.*395G>A) c.3910G>A (p.Gly1304Ser) c.3880G>A (p.Gly1294Ser) c.4006G>A (p.Gly1336Ser) c.3295G>A (p.Gly1099Ser) c.3597+1007G>A (n.3597+1007G>A) c.3547+1546G>A (n.3547+1546G>A) c.3232G>A (p.Gly1078Ser) c.3199G>A (p.Gly1067Ser) c.3412G>A (p.Gly1138Ser) | |
X | g.53234777C>A | CA516673606 | IQSEC2 | c.4068G>T (p.Leu1356=) c.1453+1006G>T c.962+1006G>T c.316+1545G>T (n.316+1545G>T) c.514+1545G>T (n.514+1545G>T) c.*394G>T (n.*394G>T) c.3909G>T (p.Leu1303=) c.3879G>T (p.Leu1293=) c.4005G>T (p.Leu1335=) c.3294G>T (p.Leu1098=) c.3597+1006G>T (n.3597+1006G>T) c.3547+1545G>T (n.3547+1545G>T) c.3231G>T (p.Leu1077=) c.3198G>T (p.Leu1066=) c.3411G>T (p.Leu1137=) | |
X | g.53234777C>G | CA516673608 | IQSEC2 | c.4068G>C (p.Leu1356=) c.1453+1006G>C c.962+1006G>C c.316+1545G>C (n.316+1545G>C) c.514+1545G>C (n.514+1545G>C) c.*394G>C (n.*394G>C) c.3909G>C (p.Leu1303=) c.3879G>C (p.Leu1293=) c.4005G>C (p.Leu1335=) c.3294G>C (p.Leu1098=) c.3597+1006G>C (n.3597+1006G>C) c.3547+1545G>C (n.3547+1545G>C) c.3231G>C (p.Leu1077=) c.3198G>C (p.Leu1066=) c.3411G>C (p.Leu1137=) | |
X | g.53234777C>T | CA516673609 | IQSEC2 | c.4068G>A (p.Leu1356=) c.1453+1006G>A c.962+1006G>A c.316+1545G>A (n.316+1545G>A) c.514+1545G>A (n.514+1545G>A) c.*394G>A (n.*394G>A) c.3909G>A (p.Leu1303=) c.3879G>A (p.Leu1293=) c.4005G>A (p.Leu1335=) c.3294G>A (p.Leu1098=) c.3597+1006G>A (n.3597+1006G>A) c.3547+1545G>A (n.3547+1545G>A) c.3231G>A (p.Leu1077=) c.3198G>A (p.Leu1066=) c.3411G>A (p.Leu1137=) | gnomAD v4 |
X | g.53234778A>C | CA413140193 | IQSEC2 | c.4067T>G (p.Leu1356Arg) c.1453+1005T>G c.962+1005T>G c.316+1544T>G (n.316+1544T>G) c.514+1544T>G (n.514+1544T>G) c.*393T>G (n.*393T>G) c.3908T>G (p.Leu1303Arg) c.3878T>G (p.Leu1293Arg) c.4004T>G (p.Leu1335Arg) c.3293T>G (p.Leu1098Arg) c.3597+1005T>G (n.3597+1005T>G) c.3547+1544T>G (n.3547+1544T>G) c.3230T>G (p.Leu1077Arg) c.3197T>G (p.Leu1066Arg) c.3410T>G (p.Leu1137Arg) | |
X | g.53234778A>G | CA413140195 | IQSEC2 | c.4067T>C (p.Leu1356Pro) c.1453+1005T>C c.962+1005T>C c.316+1544T>C (n.316+1544T>C) c.514+1544T>C (n.514+1544T>C) c.*393T>C (n.*393T>C) c.3908T>C (p.Leu1303Pro) c.3878T>C (p.Leu1293Pro) c.4004T>C (p.Leu1335Pro) c.3293T>C (p.Leu1098Pro) c.3597+1005T>C (n.3597+1005T>C) c.3547+1544T>C (n.3547+1544T>C) c.3230T>C (p.Leu1077Pro) c.3197T>C (p.Leu1066Pro) c.3410T>C (p.Leu1137Pro) | |
X | g.53234778A>T | CA413140192 | IQSEC2 | c.4067T>A (p.Leu1356Gln) c.1453+1005T>A c.962+1005T>A c.316+1544T>A (n.316+1544T>A) c.514+1544T>A (n.514+1544T>A) c.*393T>A (n.*393T>A) c.3908T>A (p.Leu1303Gln) c.3878T>A (p.Leu1293Gln) c.4004T>A (p.Leu1335Gln) c.3293T>A (p.Leu1098Gln) c.3597+1005T>A (n.3597+1005T>A) c.3547+1544T>A (n.3547+1544T>A) c.3230T>A (p.Leu1077Gln) c.3197T>A (p.Leu1066Gln) c.3410T>A (p.Leu1137Gln) | |
X | g.53234779G>A | CA516673611 | IQSEC2 | c.4066C>T (p.Leu1356=) c.1453+1004C>T c.962+1004C>T c.316+1543C>T (n.316+1543C>T) c.514+1543C>T (n.514+1543C>T) c.*392C>T (n.*392C>T) c.3907C>T (p.Leu1303=) c.3877C>T (p.Leu1293=) c.4003C>T (p.Leu1335=) c.3292C>T (p.Leu1098=) c.3597+1004C>T (n.3597+1004C>T) c.3547+1543C>T (n.3547+1543C>T) c.3229C>T (p.Leu1077=) c.3196C>T (p.Leu1066=) c.3409C>T (p.Leu1137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234779G>C | CA413140197 | IQSEC2 | c.4066C>G (p.Leu1356Val) c.1453+1004C>G c.962+1004C>G c.316+1543C>G (n.316+1543C>G) c.514+1543C>G (n.514+1543C>G) c.*392C>G (n.*392C>G) c.3907C>G (p.Leu1303Val) c.3877C>G (p.Leu1293Val) c.4003C>G (p.Leu1335Val) c.3292C>G (p.Leu1098Val) c.3597+1004C>G (n.3597+1004C>G) c.3547+1543C>G (n.3547+1543C>G) c.3229C>G (p.Leu1077Val) c.3196C>G (p.Leu1066Val) c.3409C>G (p.Leu1137Val) | gnomAD v4 |
X | g.53234779G= | CA2429770589 | IQSEC2 | c.4066C= (p.Leu1356=) c.1453+1004C= c.962+1004C= c.316+1543C= (n.316+1543C=) c.514+1543C= (n.514+1543C=) c.*392C= (n.*392C=) c.3907C= (p.Leu1303=) c.3877C= (p.Leu1293=) c.4003C= (p.Leu1335=) c.3292C= (p.Leu1098=) c.3597+1004C= (n.3597+1004C=) c.3547+1543C= (n.3547+1543C=) c.3229C= (p.Leu1077=) c.3196C= (p.Leu1066=) c.3409C= (p.Leu1137=) | |
X | g.53234779G>T | CA413140198 | IQSEC2 | c.4066C>A (p.Leu1356Met) c.1453+1004C>A c.962+1004C>A c.316+1543C>A (n.316+1543C>A) c.514+1543C>A (n.514+1543C>A) c.*392C>A (n.*392C>A) c.3907C>A (p.Leu1303Met) c.3877C>A (p.Leu1293Met) c.4003C>A (p.Leu1335Met) c.3292C>A (p.Leu1098Met) c.3597+1004C>A (n.3597+1004C>A) c.3547+1543C>A (n.3547+1543C>A) c.3229C>A (p.Leu1077Met) c.3196C>A (p.Leu1066Met) c.3409C>A (p.Leu1137Met) | gnomAD v4 |
X | g.53234780C>A | CA413140200 | IQSEC2 | c.4065G>T (p.Gln1355His) c.1453+1003G>T c.962+1003G>T c.316+1542G>T (n.316+1542G>T) c.514+1542G>T (n.514+1542G>T) c.*391G>T (n.*391G>T) c.3906G>T (p.Gln1302His) c.3876G>T (p.Gln1292His) c.4002G>T (p.Gln1334His) c.3291G>T (p.Gln1097His) c.3597+1003G>T (n.3597+1003G>T) c.3547+1542G>T (n.3547+1542G>T) c.3228G>T (p.Gln1076His) c.3195G>T (p.Gln1065His) c.3408G>T (p.Gln1136His) | dbSNP |
X | g.53234780C= | CA2429770590 | IQSEC2 | c.4065G= (p.Gln1355=) c.1453+1003G= c.962+1003G= c.316+1542G= (n.316+1542G=) c.514+1542G= (n.514+1542G=) c.*391G= (n.*391G=) c.3906G= (p.Gln1302=) c.3876G= (p.Gln1292=) c.4002G= (p.Gln1334=) c.3291G= (p.Gln1097=) c.3597+1003G= (n.3597+1003G=) c.3547+1542G= (n.3547+1542G=) c.3228G= (p.Gln1076=) c.3195G= (p.Gln1065=) c.3408G= (p.Gln1136=) | |
X | g.53234780C>G | CA413140202 | IQSEC2 | c.4065G>C (p.Gln1355His) c.1453+1003G>C c.962+1003G>C c.316+1542G>C (n.316+1542G>C) c.514+1542G>C (n.514+1542G>C) c.*391G>C (n.*391G>C) c.3906G>C (p.Gln1302His) c.3876G>C (p.Gln1292His) c.4002G>C (p.Gln1334His) c.3291G>C (p.Gln1097His) c.3597+1003G>C (n.3597+1003G>C) c.3547+1542G>C (n.3547+1542G>C) c.3228G>C (p.Gln1076His) c.3195G>C (p.Gln1065His) c.3408G>C (p.Gln1136His) | |
X | g.53234780C>T | CA516673612 | IQSEC2 | c.4065G>A (p.Gln1355=) c.1453+1003G>A c.962+1003G>A c.316+1542G>A (n.316+1542G>A) c.514+1542G>A (n.514+1542G>A) c.*391G>A (n.*391G>A) c.3906G>A (p.Gln1302=) c.3876G>A (p.Gln1292=) c.4002G>A (p.Gln1334=) c.3291G>A (p.Gln1097=) c.3597+1003G>A (n.3597+1003G>A) c.3547+1542G>A (n.3547+1542G>A) c.3228G>A (p.Gln1076=) c.3195G>A (p.Gln1065=) c.3408G>A (p.Gln1136=) | |
X | g.53234781T>A | CA413140204 | IQSEC2 | c.4064A>T (p.Gln1355Leu) c.1453+1002A>T c.962+1002A>T c.316+1541A>T (n.316+1541A>T) c.514+1541A>T (n.514+1541A>T) c.*390A>T (n.*390A>T) c.3905A>T (p.Gln1302Leu) c.3875A>T (p.Gln1292Leu) c.4001A>T (p.Gln1334Leu) c.3290A>T (p.Gln1097Leu) c.3597+1002A>T (n.3597+1002A>T) c.3547+1541A>T (n.3547+1541A>T) c.3227A>T (p.Gln1076Leu) c.3194A>T (p.Gln1065Leu) c.3407A>T (p.Gln1136Leu) | |
X | g.53234781T>C | CA413140205 | IQSEC2 | c.4064A>G (p.Gln1355Arg) c.1453+1002A>G c.962+1002A>G c.316+1541A>G (n.316+1541A>G) c.514+1541A>G (n.514+1541A>G) c.*390A>G (n.*390A>G) c.3905A>G (p.Gln1302Arg) c.3875A>G (p.Gln1292Arg) c.4001A>G (p.Gln1334Arg) c.3290A>G (p.Gln1097Arg) c.3597+1002A>G (n.3597+1002A>G) c.3547+1541A>G (n.3547+1541A>G) c.3227A>G (p.Gln1076Arg) c.3194A>G (p.Gln1065Arg) c.3407A>G (p.Gln1136Arg) | |
X | g.53234781T>G | CA413140207 | IQSEC2 | c.4064A>C (p.Gln1355Pro) c.1453+1002A>C c.962+1002A>C c.316+1541A>C (n.316+1541A>C) c.514+1541A>C (n.514+1541A>C) c.*390A>C (n.*390A>C) c.3905A>C (p.Gln1302Pro) c.3875A>C (p.Gln1292Pro) c.4001A>C (p.Gln1334Pro) c.3290A>C (p.Gln1097Pro) c.3597+1002A>C (n.3597+1002A>C) c.3547+1541A>C (n.3547+1541A>C) c.3227A>C (p.Gln1076Pro) c.3194A>C (p.Gln1065Pro) c.3407A>C (p.Gln1136Pro) | dbSNP gnomAD v4 |
X | g.53234781T= | CA2429770591 | IQSEC2 | c.4064A= (p.Gln1355=) c.1453+1002A= c.962+1002A= c.316+1541A= (n.316+1541A=) c.514+1541A= (n.514+1541A=) c.*390A= (n.*390A=) c.3905A= (p.Gln1302=) c.3875A= (p.Gln1292=) c.4001A= (p.Gln1334=) c.3290A= (p.Gln1097=) c.3597+1002A= (n.3597+1002A=) c.3547+1541A= (n.3547+1541A=) c.3227A= (p.Gln1076=) c.3194A= (p.Gln1065=) c.3407A= (p.Gln1136=) | |
X | g.53234782G>A | CA413140209 | IQSEC2 | c.4063C>T (p.Gln1355Ter) c.1453+1001C>T c.962+1001C>T c.316+1540C>T (n.316+1540C>T) c.514+1540C>T (n.514+1540C>T) c.*389C>T (n.*389C>T) c.3904C>T (p.Gln1302Ter) c.3874C>T (p.Gln1292Ter) c.4000C>T (p.Gln1334Ter) c.3289C>T (p.Gln1097Ter) c.3597+1001C>T (n.3597+1001C>T) c.3547+1540C>T (n.3547+1540C>T) c.3226C>T (p.Gln1076Ter) c.3193C>T (p.Gln1065Ter) c.3406C>T (p.Gln1136Ter) | gnomAD v4 |
X | g.53234782G>C | CA413140210 | IQSEC2 | c.4063C>G (p.Gln1355Glu) c.1453+1001C>G c.962+1001C>G c.316+1540C>G (n.316+1540C>G) c.514+1540C>G (n.514+1540C>G) c.*389C>G (n.*389C>G) c.3904C>G (p.Gln1302Glu) c.3874C>G (p.Gln1292Glu) c.4000C>G (p.Gln1334Glu) c.3289C>G (p.Gln1097Glu) c.3597+1001C>G (n.3597+1001C>G) c.3547+1540C>G (n.3547+1540C>G) c.3226C>G (p.Gln1076Glu) c.3193C>G (p.Gln1065Glu) c.3406C>G (p.Gln1136Glu) | |
X | g.53234782G>T | CA413140212 | IQSEC2 | c.4063C>A (p.Gln1355Lys) c.1453+1001C>A c.962+1001C>A c.316+1540C>A (n.316+1540C>A) c.514+1540C>A (n.514+1540C>A) c.*389C>A (n.*389C>A) c.3904C>A (p.Gln1302Lys) c.3874C>A (p.Gln1292Lys) c.4000C>A (p.Gln1334Lys) c.3289C>A (p.Gln1097Lys) c.3597+1001C>A (n.3597+1001C>A) c.3547+1540C>A (n.3547+1540C>A) c.3226C>A (p.Gln1076Lys) c.3193C>A (p.Gln1065Lys) c.3406C>A (p.Gln1136Lys) | |
X | g.53234783G>A | CA516673617 | IQSEC2 | c.4062C>T (p.Pro1354=) c.1453+1000C>T c.962+1000C>T c.316+1539C>T (n.316+1539C>T) c.514+1539C>T (n.514+1539C>T) c.*388C>T (n.*388C>T) c.3903C>T (p.Pro1301=) c.3873C>T (p.Pro1291=) c.3999C>T (p.Pro1333=) c.3288C>T (p.Pro1096=) c.3597+1000C>T (n.3597+1000C>T) c.3547+1539C>T (n.3547+1539C>T) c.3225C>T (p.Pro1075=) c.3192C>T (p.Pro1064=) c.3405C>T (p.Pro1135=) | gnomAD v4 |
X | g.53234783G>C | CA516673618 | IQSEC2 | c.4062C>G (p.Pro1354=) c.1453+1000C>G c.962+1000C>G c.316+1539C>G (n.316+1539C>G) c.514+1539C>G (n.514+1539C>G) c.*388C>G (n.*388C>G) c.3903C>G (p.Pro1301=) c.3873C>G (p.Pro1291=) c.3999C>G (p.Pro1333=) c.3288C>G (p.Pro1096=) c.3597+1000C>G (n.3597+1000C>G) c.3547+1539C>G (n.3547+1539C>G) c.3225C>G (p.Pro1075=) c.3192C>G (p.Pro1064=) c.3405C>G (p.Pro1135=) | |
X | g.53234783G>T | CA516673616 | IQSEC2 | c.4062C>A (p.Pro1354=) c.1453+1000C>A c.962+1000C>A c.316+1539C>A (n.316+1539C>A) c.514+1539C>A (n.514+1539C>A) c.*388C>A (n.*388C>A) c.3903C>A (p.Pro1301=) c.3873C>A (p.Pro1291=) c.3999C>A (p.Pro1333=) c.3288C>A (p.Pro1096=) c.3597+1000C>A (n.3597+1000C>A) c.3547+1539C>A (n.3547+1539C>A) c.3225C>A (p.Pro1075=) c.3192C>A (p.Pro1064=) c.3405C>A (p.Pro1135=) | gnomAD v4 |
X | g.53234784G>A | CA413140217 | IQSEC2 | c.4061C>T (p.Pro1354Leu) c.1453+999C>T c.962+999C>T c.316+1538C>T (n.316+1538C>T) c.514+1538C>T (n.514+1538C>T) c.*387C>T (n.*387C>T) c.3902C>T (p.Pro1301Leu) c.3872C>T (p.Pro1291Leu) c.3998C>T (p.Pro1333Leu) c.3287C>T (p.Pro1096Leu) c.3597+999C>T (n.3597+999C>T) c.3547+1538C>T (n.3547+1538C>T) c.3224C>T (p.Pro1075Leu) c.3191C>T (p.Pro1064Leu) c.3404C>T (p.Pro1135Leu) | |
X | g.53234784G>C | CA413140216 | IQSEC2 | c.4061C>G (p.Pro1354Arg) c.1453+999C>G c.962+999C>G c.316+1538C>G (n.316+1538C>G) c.514+1538C>G (n.514+1538C>G) c.*387C>G (n.*387C>G) c.3902C>G (p.Pro1301Arg) c.3872C>G (p.Pro1291Arg) c.3998C>G (p.Pro1333Arg) c.3287C>G (p.Pro1096Arg) c.3597+999C>G (n.3597+999C>G) c.3547+1538C>G (n.3547+1538C>G) c.3224C>G (p.Pro1075Arg) c.3191C>G (p.Pro1064Arg) c.3404C>G (p.Pro1135Arg) | |
X | g.53234784G>T | CA413140214 | IQSEC2 | c.4061C>A (p.Pro1354His) c.1453+999C>A c.962+999C>A c.316+1538C>A (n.316+1538C>A) c.514+1538C>A (n.514+1538C>A) c.*387C>A (n.*387C>A) c.3902C>A (p.Pro1301His) c.3872C>A (p.Pro1291His) c.3998C>A (p.Pro1333His) c.3287C>A (p.Pro1096His) c.3597+999C>A (n.3597+999C>A) c.3547+1538C>A (n.3547+1538C>A) c.3224C>A (p.Pro1075His) c.3191C>A (p.Pro1064His) c.3404C>A (p.Pro1135His) | gnomAD v4 |
X | g.53234785G>A | CA413140220 | IQSEC2 | c.4060C>T (p.Pro1354Ser) c.1453+998C>T c.962+998C>T c.316+1537C>T (n.316+1537C>T) c.514+1537C>T (n.514+1537C>T) c.*386C>T (n.*386C>T) c.3901C>T (p.Pro1301Ser) c.3871C>T (p.Pro1291Ser) c.3997C>T (p.Pro1333Ser) c.3286C>T (p.Pro1096Ser) c.3597+998C>T (n.3597+998C>T) c.3547+1537C>T (n.3547+1537C>T) c.3223C>T (p.Pro1075Ser) c.3190C>T (p.Pro1064Ser) c.3403C>T (p.Pro1135Ser) | gnomAD v4 |
X | g.53234785G>C | CA413140221 | IQSEC2 | c.4060C>G (p.Pro1354Ala) c.1453+998C>G c.962+998C>G c.316+1537C>G (n.316+1537C>G) c.514+1537C>G (n.514+1537C>G) c.*386C>G (n.*386C>G) c.3901C>G (p.Pro1301Ala) c.3871C>G (p.Pro1291Ala) c.3997C>G (p.Pro1333Ala) c.3286C>G (p.Pro1096Ala) c.3597+998C>G (n.3597+998C>G) c.3547+1537C>G (n.3547+1537C>G) c.3223C>G (p.Pro1075Ala) c.3190C>G (p.Pro1064Ala) c.3403C>G (p.Pro1135Ala) | |
X | g.53234785G>T | CA413140223 | IQSEC2 | c.4060C>A (p.Pro1354Thr) c.1453+998C>A c.962+998C>A c.316+1537C>A (n.316+1537C>A) c.514+1537C>A (n.514+1537C>A) c.*386C>A (n.*386C>A) c.3901C>A (p.Pro1301Thr) c.3871C>A (p.Pro1291Thr) c.3997C>A (p.Pro1333Thr) c.3286C>A (p.Pro1096Thr) c.3597+998C>A (n.3597+998C>A) c.3547+1537C>A (n.3547+1537C>A) c.3223C>A (p.Pro1075Thr) c.3190C>A (p.Pro1064Thr) c.3403C>A (p.Pro1135Thr) | |
X | g.53234786C>A | CA413140225 | IQSEC2 | c.4059G>T (p.Leu1353Phe) c.1453+997G>T c.962+997G>T c.316+1536G>T (n.316+1536G>T) c.514+1536G>T (n.514+1536G>T) c.*385G>T (n.*385G>T) c.3900G>T (p.Leu1300Phe) c.3870G>T (p.Leu1290Phe) c.3996G>T (p.Leu1332Phe) c.3285G>T (p.Leu1095Phe) c.3597+997G>T (n.3597+997G>T) c.3547+1536G>T (n.3547+1536G>T) c.3222G>T (p.Leu1074Phe) c.3189G>T (p.Leu1063Phe) c.3402G>T (p.Leu1134Phe) | gnomAD v4 |
X | g.53234786C>G | CA413140226 | IQSEC2 | c.4059G>C (p.Leu1353Phe) c.1453+997G>C c.962+997G>C c.316+1536G>C (n.316+1536G>C) c.514+1536G>C (n.514+1536G>C) c.*385G>C (n.*385G>C) c.3900G>C (p.Leu1300Phe) c.3870G>C (p.Leu1290Phe) c.3996G>C (p.Leu1332Phe) c.3285G>C (p.Leu1095Phe) c.3597+997G>C (n.3597+997G>C) c.3547+1536G>C (n.3547+1536G>C) c.3222G>C (p.Leu1074Phe) c.3189G>C (p.Leu1063Phe) c.3402G>C (p.Leu1134Phe) | |
X | g.53234786C>T | CA516673621 | IQSEC2 | c.4059G>A (p.Leu1353=) c.1453+997G>A c.962+997G>A c.316+1536G>A (n.316+1536G>A) c.514+1536G>A (n.514+1536G>A) c.*385G>A (n.*385G>A) c.3900G>A (p.Leu1300=) c.3870G>A (p.Leu1290=) c.3996G>A (p.Leu1332=) c.3285G>A (p.Leu1095=) c.3597+997G>A (n.3597+997G>A) c.3547+1536G>A (n.3547+1536G>A) c.3222G>A (p.Leu1074=) c.3189G>A (p.Leu1063=) c.3402G>A (p.Leu1134=) | gnomAD v4 |
X | g.53234787A>C | CA413140228 | IQSEC2 | c.4058T>G (p.Leu1353Trp) c.1453+996T>G c.962+996T>G c.316+1535T>G (n.316+1535T>G) c.514+1535T>G (n.514+1535T>G) c.*384T>G (n.*384T>G) c.3899T>G (p.Leu1300Trp) c.3869T>G (p.Leu1290Trp) c.3995T>G (p.Leu1332Trp) c.3284T>G (p.Leu1095Trp) c.3597+996T>G (n.3597+996T>G) c.3547+1535T>G (n.3547+1535T>G) c.3221T>G (p.Leu1074Trp) c.3188T>G (p.Leu1063Trp) c.3401T>G (p.Leu1134Trp) | |
X | g.53234787A>G | CA413140229 | IQSEC2 | c.4058T>C (p.Leu1353Ser) c.1453+996T>C c.962+996T>C c.316+1535T>C (n.316+1535T>C) c.514+1535T>C (n.514+1535T>C) c.*384T>C (n.*384T>C) c.3899T>C (p.Leu1300Ser) c.3869T>C (p.Leu1290Ser) c.3995T>C (p.Leu1332Ser) c.3284T>C (p.Leu1095Ser) c.3597+996T>C (n.3597+996T>C) c.3547+1535T>C (n.3547+1535T>C) c.3221T>C (p.Leu1074Ser) c.3188T>C (p.Leu1063Ser) c.3401T>C (p.Leu1134Ser) | |
X | g.53234787A>T | CA413140231 | IQSEC2 | c.4058T>A (p.Leu1353Ter) c.1453+996T>A c.962+996T>A c.316+1535T>A (n.316+1535T>A) c.514+1535T>A (n.514+1535T>A) c.*384T>A (n.*384T>A) c.3899T>A (p.Leu1300Ter) c.3869T>A (p.Leu1290Ter) c.3995T>A (p.Leu1332Ter) c.3284T>A (p.Leu1095Ter) c.3597+996T>A (n.3597+996T>A) c.3547+1535T>A (n.3547+1535T>A) c.3221T>A (p.Leu1074Ter) c.3188T>A (p.Leu1063Ter) c.3401T>A (p.Leu1134Ter) | |
X | g.53234788A= | CA2429770592 | IQSEC2 | c.4057T= (p.Leu1353=) c.1453+995T= c.962+995T= c.316+1534T= (n.316+1534T=) c.514+1534T= (n.514+1534T=) c.*383T= (n.*383T=) c.3898T= (p.Leu1300=) c.3868T= (p.Leu1290=) c.3994T= (p.Leu1332=) c.3283T= (p.Leu1095=) c.3597+995T= (n.3597+995T=) c.3547+1534T= (n.3547+1534T=) c.3220T= (p.Leu1074=) c.3187T= (p.Leu1063=) c.3400T= (p.Leu1134=) | |
X | g.53234788A>C | CA413140233 | IQSEC2 | c.4057T>G (p.Leu1353Val) c.1453+995T>G c.962+995T>G c.316+1534T>G (n.316+1534T>G) c.514+1534T>G (n.514+1534T>G) c.*383T>G (n.*383T>G) c.3898T>G (p.Leu1300Val) c.3868T>G (p.Leu1290Val) c.3994T>G (p.Leu1332Val) c.3283T>G (p.Leu1095Val) c.3597+995T>G (n.3597+995T>G) c.3547+1534T>G (n.3547+1534T>G) c.3220T>G (p.Leu1074Val) c.3187T>G (p.Leu1063Val) c.3400T>G (p.Leu1134Val) | |
X | g.53234788A>G | CA516673623 | IQSEC2 | c.4057T>C (p.Leu1353=) c.1453+995T>C c.962+995T>C c.316+1534T>C (n.316+1534T>C) c.514+1534T>C (n.514+1534T>C) c.*383T>C (n.*383T>C) c.3898T>C (p.Leu1300=) c.3868T>C (p.Leu1290=) c.3994T>C (p.Leu1332=) c.3283T>C (p.Leu1095=) c.3597+995T>C (n.3597+995T>C) c.3547+1534T>C (n.3547+1534T>C) c.3220T>C (p.Leu1074=) c.3187T>C (p.Leu1063=) c.3400T>C (p.Leu1134=) | dbSNP gnomAD v4 |
X | g.53234788A>T | CA413140235 | IQSEC2 | c.4057T>A (p.Leu1353Met) c.1453+995T>A c.962+995T>A c.316+1534T>A (n.316+1534T>A) c.514+1534T>A (n.514+1534T>A) c.*383T>A (n.*383T>A) c.3898T>A (p.Leu1300Met) c.3868T>A (p.Leu1290Met) c.3994T>A (p.Leu1332Met) c.3283T>A (p.Leu1095Met) c.3597+995T>A (n.3597+995T>A) c.3547+1534T>A (n.3547+1534T>A) c.3220T>A (p.Leu1074Met) c.3187T>A (p.Leu1063Met) c.3400T>A (p.Leu1134Met) | gnomAD v4 |
X | g.53234789G>A | CA516673624 | IQSEC2 | c.4056C>T (p.Pro1352=) c.1453+994C>T c.962+994C>T c.316+1533C>T (n.316+1533C>T) c.514+1533C>T (n.514+1533C>T) c.*382C>T (n.*382C>T) c.3897C>T (p.Pro1299=) c.3867C>T (p.Pro1289=) c.3993C>T (p.Pro1331=) c.3282C>T (p.Pro1094=) c.3597+994C>T (n.3597+994C>T) c.3547+1533C>T (n.3547+1533C>T) c.3219C>T (p.Pro1073=) c.3186C>T (p.Pro1062=) c.3399C>T (p.Pro1133=) | gnomAD v4 |
X | g.53234789G>C | CA516673625 | IQSEC2 | c.4056C>G (p.Pro1352=) c.1453+994C>G c.962+994C>G c.316+1533C>G (n.316+1533C>G) c.514+1533C>G (n.514+1533C>G) c.*382C>G (n.*382C>G) c.3897C>G (p.Pro1299=) c.3867C>G (p.Pro1289=) c.3993C>G (p.Pro1331=) c.3282C>G (p.Pro1094=) c.3597+994C>G (n.3597+994C>G) c.3547+1533C>G (n.3547+1533C>G) c.3219C>G (p.Pro1073=) c.3186C>G (p.Pro1062=) c.3399C>G (p.Pro1133=) | |
X | g.53234789G>T | CA516673626 | IQSEC2 | c.4056C>A (p.Pro1352=) c.1453+994C>A c.962+994C>A c.316+1533C>A (n.316+1533C>A) c.514+1533C>A (n.514+1533C>A) c.*382C>A (n.*382C>A) c.3897C>A (p.Pro1299=) c.3867C>A (p.Pro1289=) c.3993C>A (p.Pro1331=) c.3282C>A (p.Pro1094=) c.3597+994C>A (n.3597+994C>A) c.3547+1533C>A (n.3547+1533C>A) c.3219C>A (p.Pro1073=) c.3186C>A (p.Pro1062=) c.3399C>A (p.Pro1133=) | gnomAD v4 |
X | g.53234790G>A | CA413140236 | IQSEC2 | c.4055C>T (p.Pro1352Leu) c.1453+993C>T c.962+993C>T c.316+1532C>T (n.316+1532C>T) c.514+1532C>T (n.514+1532C>T) c.*381C>T (n.*381C>T) c.3896C>T (p.Pro1299Leu) c.3866C>T (p.Pro1289Leu) c.3992C>T (p.Pro1331Leu) c.3281C>T (p.Pro1094Leu) c.3597+993C>T (n.3597+993C>T) c.3547+1532C>T (n.3547+1532C>T) c.3218C>T (p.Pro1073Leu) c.3185C>T (p.Pro1062Leu) c.3398C>T (p.Pro1133Leu) | gnomAD v4 |
X | g.53234790G>C | CA413140238 | IQSEC2 | c.4055C>G (p.Pro1352Arg) c.1453+993C>G c.962+993C>G c.316+1532C>G (n.316+1532C>G) c.514+1532C>G (n.514+1532C>G) c.*381C>G (n.*381C>G) c.3896C>G (p.Pro1299Arg) c.3866C>G (p.Pro1289Arg) c.3992C>G (p.Pro1331Arg) c.3281C>G (p.Pro1094Arg) c.3597+993C>G (n.3597+993C>G) c.3547+1532C>G (n.3547+1532C>G) c.3218C>G (p.Pro1073Arg) c.3185C>G (p.Pro1062Arg) c.3398C>G (p.Pro1133Arg) | |
X | g.53234790G= | CA2429770593 | IQSEC2 | c.4055C= (p.Pro1352=) c.1453+993C= c.962+993C= c.316+1532C= (n.316+1532C=) c.514+1532C= (n.514+1532C=) c.*381C= (n.*381C=) c.3896C= (p.Pro1299=) c.3866C= (p.Pro1289=) c.3992C= (p.Pro1331=) c.3281C= (p.Pro1094=) c.3597+993C= (n.3597+993C=) c.3547+1532C= (n.3547+1532C=) c.3218C= (p.Pro1073=) c.3185C= (p.Pro1062=) c.3398C= (p.Pro1133=) | |
X | g.53234790G>T | CA413140239 | IQSEC2 | c.4055C>A (p.Pro1352His) c.1453+993C>A c.962+993C>A c.316+1532C>A (n.316+1532C>A) c.514+1532C>A (n.514+1532C>A) c.*381C>A (n.*381C>A) c.3896C>A (p.Pro1299His) c.3866C>A (p.Pro1289His) c.3992C>A (p.Pro1331His) c.3281C>A (p.Pro1094His) c.3597+993C>A (n.3597+993C>A) c.3547+1532C>A (n.3547+1532C>A) c.3218C>A (p.Pro1073His) c.3185C>A (p.Pro1062His) c.3398C>A (p.Pro1133His) | dbSNP gnomAD v4 |
X | g.53234791G>A | CA10419772 | IQSEC2 | c.4054C>T (p.Pro1352Ser) c.1453+992C>T c.962+992C>T c.316+1531C>T (n.316+1531C>T) c.514+1531C>T (n.514+1531C>T) c.*380C>T (n.*380C>T) c.3895C>T (p.Pro1299Ser) c.3865C>T (p.Pro1289Ser) c.3991C>T (p.Pro1331Ser) c.3280C>T (p.Pro1094Ser) c.3597+992C>T (n.3597+992C>T) c.3547+1531C>T (n.3547+1531C>T) c.3217C>T (p.Pro1073Ser) c.3184C>T (p.Pro1062Ser) c.3397C>T (p.Pro1133Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53234791G>C | CA413140244 | IQSEC2 | c.4054C>G (p.Pro1352Ala) c.1453+992C>G c.962+992C>G c.316+1531C>G (n.316+1531C>G) c.514+1531C>G (n.514+1531C>G) c.*380C>G (n.*380C>G) c.3895C>G (p.Pro1299Ala) c.3865C>G (p.Pro1289Ala) c.3991C>G (p.Pro1331Ala) c.3280C>G (p.Pro1094Ala) c.3597+992C>G (n.3597+992C>G) c.3547+1531C>G (n.3547+1531C>G) c.3217C>G (p.Pro1073Ala) c.3184C>G (p.Pro1062Ala) c.3397C>G (p.Pro1133Ala) | |
X | g.53234791G= | CA2429770594 | IQSEC2 | c.4054C= (p.Pro1352=) c.1453+992C= c.962+992C= c.316+1531C= (n.316+1531C=) c.514+1531C= (n.514+1531C=) c.*380C= (n.*380C=) c.3895C= (p.Pro1299=) c.3865C= (p.Pro1289=) c.3991C= (p.Pro1331=) c.3280C= (p.Pro1094=) c.3597+992C= (n.3597+992C=) c.3547+1531C= (n.3547+1531C=) c.3217C= (p.Pro1073=) c.3184C= (p.Pro1062=) c.3397C= (p.Pro1133=) | |
X | g.53234791G>T | CA413140242 | IQSEC2 | c.4054C>A (p.Pro1352Thr) c.1453+992C>A c.962+992C>A c.316+1531C>A (n.316+1531C>A) c.514+1531C>A (n.514+1531C>A) c.*380C>A (n.*380C>A) c.3895C>A (p.Pro1299Thr) c.3865C>A (p.Pro1289Thr) c.3991C>A (p.Pro1331Thr) c.3280C>A (p.Pro1094Thr) c.3597+992C>A (n.3597+992C>A) c.3547+1531C>A (n.3547+1531C>A) c.3217C>A (p.Pro1073Thr) c.3184C>A (p.Pro1062Thr) c.3397C>A (p.Pro1133Thr) | gnomAD v4 |
X | g.53234792T>A | CA516673631 | IQSEC2 | c.4053A>T (p.Pro1351=) c.1453+991A>T c.962+991A>T c.316+1530A>T (n.316+1530A>T) c.514+1530A>T (n.514+1530A>T) c.*379A>T (n.*379A>T) c.3894A>T (p.Pro1298=) c.3864A>T (p.Pro1288=) c.3990A>T (p.Pro1330=) c.3279A>T (p.Pro1093=) c.3597+991A>T (n.3597+991A>T) c.3547+1530A>T (n.3547+1530A>T) c.3216A>T (p.Pro1072=) c.3183A>T (p.Pro1061=) c.3396A>T (p.Pro1132=) | gnomAD v4 |
X | g.53234792T>C | CA516673632 | IQSEC2 | c.4053A>G (p.Pro1351=) c.1453+991A>G c.962+991A>G c.316+1530A>G (n.316+1530A>G) c.514+1530A>G (n.514+1530A>G) c.*379A>G (n.*379A>G) c.3894A>G (p.Pro1298=) c.3864A>G (p.Pro1288=) c.3990A>G (p.Pro1330=) c.3279A>G (p.Pro1093=) c.3597+991A>G (n.3597+991A>G) c.3547+1530A>G (n.3547+1530A>G) c.3216A>G (p.Pro1072=) c.3183A>G (p.Pro1061=) c.3396A>G (p.Pro1132=) | gnomAD v3 gnomAD v4 |
X | g.53234792T>G | CA516673633 | IQSEC2 | c.4053A>C (p.Pro1351=) c.1453+991A>C c.962+991A>C c.316+1530A>C (n.316+1530A>C) c.514+1530A>C (n.514+1530A>C) c.*379A>C (n.*379A>C) c.3894A>C (p.Pro1298=) c.3864A>C (p.Pro1288=) c.3990A>C (p.Pro1330=) c.3279A>C (p.Pro1093=) c.3597+991A>C (n.3597+991A>C) c.3547+1530A>C (n.3547+1530A>C) c.3216A>C (p.Pro1072=) c.3183A>C (p.Pro1061=) c.3396A>C (p.Pro1132=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53234792T= | CA2429770595 | IQSEC2 | c.4053A= (p.Pro1351=) c.1453+991A= c.962+991A= c.316+1530A= (n.316+1530A=) c.514+1530A= (n.514+1530A=) c.*379A= (n.*379A=) c.3894A= (p.Pro1298=) c.3864A= (p.Pro1288=) c.3990A= (p.Pro1330=) c.3279A= (p.Pro1093=) c.3597+991A= (n.3597+991A=) c.3547+1530A= (n.3547+1530A=) c.3216A= (p.Pro1072=) c.3183A= (p.Pro1061=) c.3396A= (p.Pro1132=) | |
X | g.53234793G>A | CA413140250 | IQSEC2 | c.4052C>T (p.Pro1351Leu) c.1453+990C>T c.962+990C>T c.316+1529C>T (n.316+1529C>T) c.514+1529C>T (n.514+1529C>T) c.*378C>T (n.*378C>T) c.3893C>T (p.Pro1298Leu) c.3863C>T (p.Pro1288Leu) c.3989C>T (p.Pro1330Leu) c.3278C>T (p.Pro1093Leu) c.3597+990C>T (n.3597+990C>T) c.3547+1529C>T (n.3547+1529C>T) c.3215C>T (p.Pro1072Leu) c.3182C>T (p.Pro1061Leu) c.3395C>T (p.Pro1132Leu) | |
X | g.53234793G>C | CA413140246 | IQSEC2 | c.4052C>G (p.Pro1351Arg) c.1453+990C>G c.962+990C>G c.316+1529C>G (n.316+1529C>G) c.514+1529C>G (n.514+1529C>G) c.*378C>G (n.*378C>G) c.3893C>G (p.Pro1298Arg) c.3863C>G (p.Pro1288Arg) c.3989C>G (p.Pro1330Arg) c.3278C>G (p.Pro1093Arg) c.3597+990C>G (n.3597+990C>G) c.3547+1529C>G (n.3547+1529C>G) c.3215C>G (p.Pro1072Arg) c.3182C>G (p.Pro1061Arg) c.3395C>G (p.Pro1132Arg) | |
X | g.53234793G>T | CA413140248 | IQSEC2 | c.4052C>A (p.Pro1351Gln) c.1453+990C>A c.962+990C>A c.316+1529C>A (n.316+1529C>A) c.514+1529C>A (n.514+1529C>A) c.*378C>A (n.*378C>A) c.3893C>A (p.Pro1298Gln) c.3863C>A (p.Pro1288Gln) c.3989C>A (p.Pro1330Gln) c.3278C>A (p.Pro1093Gln) c.3597+990C>A (n.3597+990C>A) c.3547+1529C>A (n.3547+1529C>A) c.3215C>A (p.Pro1072Gln) c.3182C>A (p.Pro1061Gln) c.3395C>A (p.Pro1132Gln) | gnomAD v4 |
X | g.53234797dup | CA2820950183 | IQSEC2 | c.4052dup (p.Pro1352ThrfsTer?) c.1453+990dup c.962+990dup c.316+1529dup (n.316+1529dup) c.514+1529dup (n.514+1529dup) c.*378dup (n.*378dup) c.3893dup (p.Pro1299ThrfsTer?) c.3863dup (p.Pro1289ThrfsTer?) c.3989dup (p.Pro1331ThrfsTer?) c.3278dup (p.Pro1094ThrfsTer?) c.3597+990dup (n.3597+990dup) c.3547+1529dup (n.3547+1529dup) c.3215dup (p.Pro1073ThrfsTer?) c.3182dup (p.Pro1062ThrfsTer?) c.3395dup (p.Pro1133ThrfsTer?) | |
X | g.53234797del | CA2693794286 | IQSEC2 | c.4052del (p.Pro1351HisfsTer?) c.1453+990del c.962+990del c.316+1529del (n.316+1529del) c.514+1529del (n.514+1529del) c.*378del (n.*378del) c.3893del (p.Pro1298HisfsTer?) c.3863del (p.Pro1288HisfsTer?) c.3989del (p.Pro1330HisfsTer?) c.3278del (p.Pro1093HisfsTer?) c.3597+990del (n.3597+990del) c.3547+1529del (n.3547+1529del) c.3215del (p.Pro1072HisfsTer?) c.3182del (p.Pro1061HisfsTer?) c.3395del (p.Pro1132HisfsTer?) | gnomAD v4 |
X | g.53234794_53234820del | CA2693794287 | IQSEC2 | c.4026_4052del (p.Leu1343_Pro1351del) c.1453+964_1453+990del c.962+964_962+990del c.316+1503_316+1529del (n.316+1503_316+1529del) c.514+1503_514+1529del (n.514+1503_514+1529del) c.*352_*378del (n.*352_*378del) c.3867_3893del (p.Leu1290_Pro1298del) c.3837_3863del (p.Leu1280_Pro1288del) c.3963_3989del (p.Leu1322_Pro1330del) c.3252_3278del (p.Leu1085_Pro1093del) c.3597+964_3597+990del (n.3597+964_3597+990del) c.3547+1503_3547+1529del (n.3547+1503_3547+1529del) c.3189_3215del (p.Leu1064_Pro1072del) c.3156_3182del (p.Leu1053_Pro1061del) c.3369_3395del (p.Leu1124_Pro1132del) | gnomAD v4 |
X | g.53234794G>A | CA413140252 | IQSEC2 | c.4051C>T (p.Pro1351Ser) c.1453+989C>T c.962+989C>T c.316+1528C>T (n.316+1528C>T) c.514+1528C>T (n.514+1528C>T) c.*377C>T (n.*377C>T) c.3892C>T (p.Pro1298Ser) c.3862C>T (p.Pro1288Ser) c.3988C>T (p.Pro1330Ser) c.3277C>T (p.Pro1093Ser) c.3597+989C>T (n.3597+989C>T) c.3547+1528C>T (n.3547+1528C>T) c.3214C>T (p.Pro1072Ser) c.3181C>T (p.Pro1061Ser) c.3394C>T (p.Pro1132Ser) | |
X | g.53234794G>C | CA413140254 | IQSEC2 | c.4051C>G (p.Pro1351Ala) c.1453+989C>G c.962+989C>G c.316+1528C>G (n.316+1528C>G) c.514+1528C>G (n.514+1528C>G) c.*377C>G (n.*377C>G) c.3892C>G (p.Pro1298Ala) c.3862C>G (p.Pro1288Ala) c.3988C>G (p.Pro1330Ala) c.3277C>G (p.Pro1093Ala) c.3597+989C>G (n.3597+989C>G) c.3547+1528C>G (n.3547+1528C>G) c.3214C>G (p.Pro1072Ala) c.3181C>G (p.Pro1061Ala) c.3394C>G (p.Pro1132Ala) | |
X | g.53234794G>T | CA413140256 | IQSEC2 | c.4051C>A (p.Pro1351Thr) c.1453+989C>A c.962+989C>A c.316+1528C>A (n.316+1528C>A) c.514+1528C>A (n.514+1528C>A) c.*377C>A (n.*377C>A) c.3892C>A (p.Pro1298Thr) c.3862C>A (p.Pro1288Thr) c.3988C>A (p.Pro1330Thr) c.3277C>A (p.Pro1093Thr) c.3597+989C>A (n.3597+989C>A) c.3547+1528C>A (n.3547+1528C>A) c.3214C>A (p.Pro1072Thr) c.3181C>A (p.Pro1061Thr) c.3394C>A (p.Pro1132Thr) | |
X | g.53234795G>A | CA516673635 | IQSEC2 | c.4050C>T (p.Pro1350=) c.1453+988C>T c.962+988C>T c.316+1527C>T (n.316+1527C>T) c.514+1527C>T (n.514+1527C>T) c.*376C>T (n.*376C>T) c.3891C>T (p.Pro1297=) c.3861C>T (p.Pro1287=) c.3987C>T (p.Pro1329=) c.3276C>T (p.Pro1092=) c.3597+988C>T (n.3597+988C>T) c.3547+1527C>T (n.3547+1527C>T) c.3213C>T (p.Pro1071=) c.3180C>T (p.Pro1060=) c.3393C>T (p.Pro1131=) | dbSNP |
X | g.53234795G>C | CA516673636 | IQSEC2 | c.4050C>G (p.Pro1350=) c.1453+988C>G c.962+988C>G c.316+1527C>G (n.316+1527C>G) c.514+1527C>G (n.514+1527C>G) c.*376C>G (n.*376C>G) c.3891C>G (p.Pro1297=) c.3861C>G (p.Pro1287=) c.3987C>G (p.Pro1329=) c.3276C>G (p.Pro1092=) c.3597+988C>G (n.3597+988C>G) c.3547+1527C>G (n.3547+1527C>G) c.3213C>G (p.Pro1071=) c.3180C>G (p.Pro1060=) c.3393C>G (p.Pro1131=) | |
X | g.53234795G= | CA2429770596 | IQSEC2 | c.4050C= (p.Pro1350=) c.1453+988C= c.962+988C= c.316+1527C= (n.316+1527C=) c.514+1527C= (n.514+1527C=) c.*376C= (n.*376C=) c.3891C= (p.Pro1297=) c.3861C= (p.Pro1287=) c.3987C= (p.Pro1329=) c.3276C= (p.Pro1092=) c.3597+988C= (n.3597+988C=) c.3547+1527C= (n.3547+1527C=) c.3213C= (p.Pro1071=) c.3180C= (p.Pro1060=) c.3393C= (p.Pro1131=) | |
X | g.53234795G>T | CA516673634 | IQSEC2 | c.4050C>A (p.Pro1350=) c.1453+988C>A c.962+988C>A c.316+1527C>A (n.316+1527C>A) c.514+1527C>A (n.514+1527C>A) c.*376C>A (n.*376C>A) c.3891C>A (p.Pro1297=) c.3861C>A (p.Pro1287=) c.3987C>A (p.Pro1329=) c.3276C>A (p.Pro1092=) c.3597+988C>A (n.3597+988C>A) c.3547+1527C>A (n.3547+1527C>A) c.3213C>A (p.Pro1071=) c.3180C>A (p.Pro1060=) c.3393C>A (p.Pro1131=) | |
X | g.53234807_53234833dup | CA2693794288 | IQSEC2 | c.4024_4050dup (p.Pro1350_Pro1351insSerLeuProProProProGlnGlnPro) c.1453+962_1453+988dup c.962+962_962+988dup c.316+1501_316+1527dup (n.316+1501_316+1527dup) c.514+1501_514+1527dup (n.514+1501_514+1527dup) c.*350_*376dup (n.*350_*376dup) c.3865_3891dup (p.Pro1297_Pro1298insSerLeuProProProProGlnGlnPro) c.3835_3861dup (p.Pro1287_Pro1288insSerLeuProProProProGlnGlnPro) c.3961_3987dup (p.Pro1329_Pro1330insSerLeuProProProProGlnGlnPro) c.3250_3276dup (p.Pro1092_Pro1093insSerLeuProProProProGlnGlnPro) c.3597+962_3597+988dup (n.3597+962_3597+988dup) c.3547+1501_3547+1527dup (n.3547+1501_3547+1527dup) c.3187_3213dup (p.Pro1071_Pro1072insSerLeuProProProProGlnGlnPro) c.3154_3180dup (p.Pro1060_Pro1061insSerLeuProProProProGlnGlnPro) c.3367_3393dup (p.Pro1131_Pro1132insSerLeuProProProProGlnGlnPro) | gnomAD v4 |
X | g.53234807_53234833del | CA2693794289 | IQSEC2 | c.4024_4050del (p.Ser1342_Pro1350del) c.1453+962_1453+988del c.962+962_962+988del c.316+1501_316+1527del (n.316+1501_316+1527del) c.514+1501_514+1527del (n.514+1501_514+1527del) c.*350_*376del (n.*350_*376del) c.3865_3891del (p.Ser1289_Pro1297del) c.3835_3861del (p.Ser1279_Pro1287del) c.3961_3987del (p.Ser1321_Pro1329del) c.3250_3276del (p.Ser1084_Pro1092del) c.3597+962_3597+988del (n.3597+962_3597+988del) c.3547+1501_3547+1527del (n.3547+1501_3547+1527del) c.3187_3213del (p.Ser1063_Pro1071del) c.3154_3180del (p.Ser1052_Pro1060del) c.3367_3393del (p.Ser1123_Pro1131del) | gnomAD v4 |
X | g.53234796G>A | CA413140258 | IQSEC2 | c.4049C>T (p.Pro1350Leu) c.1453+987C>T c.962+987C>T c.316+1526C>T (n.316+1526C>T) c.514+1526C>T (n.514+1526C>T) c.*375C>T (n.*375C>T) c.3890C>T (p.Pro1297Leu) c.3860C>T (p.Pro1287Leu) c.3986C>T (p.Pro1329Leu) c.3275C>T (p.Pro1092Leu) c.3597+987C>T (n.3597+987C>T) c.3547+1526C>T (n.3547+1526C>T) c.3212C>T (p.Pro1071Leu) c.3179C>T (p.Pro1060Leu) c.3392C>T (p.Pro1131Leu) | |
X | g.53234796G>C | CA413140260 | IQSEC2 | c.4049C>G (p.Pro1350Arg) c.1453+987C>G c.962+987C>G c.316+1526C>G (n.316+1526C>G) c.514+1526C>G (n.514+1526C>G) c.*375C>G (n.*375C>G) c.3890C>G (p.Pro1297Arg) c.3860C>G (p.Pro1287Arg) c.3986C>G (p.Pro1329Arg) c.3275C>G (p.Pro1092Arg) c.3597+987C>G (n.3597+987C>G) c.3547+1526C>G (n.3547+1526C>G) c.3212C>G (p.Pro1071Arg) c.3179C>G (p.Pro1060Arg) c.3392C>G (p.Pro1131Arg) | |
X | g.53234796G>T | CA413140261 | IQSEC2 | c.4049C>A (p.Pro1350His) c.1453+987C>A c.962+987C>A c.316+1526C>A (n.316+1526C>A) c.514+1526C>A (n.514+1526C>A) c.*375C>A (n.*375C>A) c.3890C>A (p.Pro1297His) c.3860C>A (p.Pro1287His) c.3986C>A (p.Pro1329His) c.3275C>A (p.Pro1092His) c.3597+987C>A (n.3597+987C>A) c.3547+1526C>A (n.3547+1526C>A) c.3212C>A (p.Pro1071His) c.3179C>A (p.Pro1060His) c.3392C>A (p.Pro1131His) | gnomAD v4 |
X | g.53234797G>A | CA413140263 | IQSEC2 | c.4048C>T (p.Pro1350Ser) c.1453+986C>T c.962+986C>T c.316+1525C>T (n.316+1525C>T) c.514+1525C>T (n.514+1525C>T) c.*374C>T (n.*374C>T) c.3889C>T (p.Pro1297Ser) c.3859C>T (p.Pro1287Ser) c.3985C>T (p.Pro1329Ser) c.3274C>T (p.Pro1092Ser) c.3597+986C>T (n.3597+986C>T) c.3547+1525C>T (n.3547+1525C>T) c.3211C>T (p.Pro1071Ser) c.3178C>T (p.Pro1060Ser) c.3391C>T (p.Pro1131Ser) | dbSNP gnomAD v4 |
X | g.53234797G>C | CA413140265 | IQSEC2 | c.4048C>G (p.Pro1350Ala) c.1453+986C>G c.962+986C>G c.316+1525C>G (n.316+1525C>G) c.514+1525C>G (n.514+1525C>G) c.*374C>G (n.*374C>G) c.3889C>G (p.Pro1297Ala) c.3859C>G (p.Pro1287Ala) c.3985C>G (p.Pro1329Ala) c.3274C>G (p.Pro1092Ala) c.3597+986C>G (n.3597+986C>G) c.3547+1525C>G (n.3547+1525C>G) c.3211C>G (p.Pro1071Ala) c.3178C>G (p.Pro1060Ala) c.3391C>G (p.Pro1131Ala) | |
X | g.53234797G= | CA2429770597 | IQSEC2 | c.4048C= (p.Pro1350=) c.1453+986C= c.962+986C= c.316+1525C= (n.316+1525C=) c.514+1525C= (n.514+1525C=) c.*374C= (n.*374C=) c.3889C= (p.Pro1297=) c.3859C= (p.Pro1287=) c.3985C= (p.Pro1329=) c.3274C= (p.Pro1092=) c.3597+986C= (n.3597+986C=) c.3547+1525C= (n.3547+1525C=) c.3211C= (p.Pro1071=) c.3178C= (p.Pro1060=) c.3391C= (p.Pro1131=) | |
X | g.53234797G>T | CA413140270 | IQSEC2 | c.4048C>A (p.Pro1350Thr) c.1453+986C>A c.962+986C>A c.316+1525C>A (n.316+1525C>A) c.514+1525C>A (n.514+1525C>A) c.*374C>A (n.*374C>A) c.3889C>A (p.Pro1297Thr) c.3859C>A (p.Pro1287Thr) c.3985C>A (p.Pro1329Thr) c.3274C>A (p.Pro1092Thr) c.3597+986C>A (n.3597+986C>A) c.3547+1525C>A (n.3547+1525C>A) c.3211C>A (p.Pro1071Thr) c.3178C>A (p.Pro1060Thr) c.3391C>A (p.Pro1131Thr) | |
X | g.53234798C>A | CA413140272 | IQSEC2 | c.4047G>T (p.Gln1349His) c.1453+985G>T c.962+985G>T c.316+1524G>T (n.316+1524G>T) c.514+1524G>T (n.514+1524G>T) c.*373G>T (n.*373G>T) c.3888G>T (p.Gln1296His) c.3858G>T (p.Gln1286His) c.3984G>T (p.Gln1328His) c.3273G>T (p.Gln1091His) c.3597+985G>T (n.3597+985G>T) c.3547+1524G>T (n.3547+1524G>T) c.3210G>T (p.Gln1070His) c.3177G>T (p.Gln1059His) c.3390G>T (p.Gln1130His) | |
X | g.53234798C>G | CA413140274 | IQSEC2 | c.4047G>C (p.Gln1349His) c.1453+985G>C c.962+985G>C c.316+1524G>C (n.316+1524G>C) c.514+1524G>C (n.514+1524G>C) c.*373G>C (n.*373G>C) c.3888G>C (p.Gln1296His) c.3858G>C (p.Gln1286His) c.3984G>C (p.Gln1328His) c.3273G>C (p.Gln1091His) c.3597+985G>C (n.3597+985G>C) c.3547+1524G>C (n.3547+1524G>C) c.3210G>C (p.Gln1070His) c.3177G>C (p.Gln1059His) c.3390G>C (p.Gln1130His) | |
X | g.53234798C>T | CA516673640 | IQSEC2 | c.4047G>A (p.Gln1349=) c.1453+985G>A c.962+985G>A c.316+1524G>A (n.316+1524G>A) c.514+1524G>A (n.514+1524G>A) c.*373G>A (n.*373G>A) c.3888G>A (p.Gln1296=) c.3858G>A (p.Gln1286=) c.3984G>A (p.Gln1328=) c.3273G>A (p.Gln1091=) c.3597+985G>A (n.3597+985G>A) c.3547+1524G>A (n.3547+1524G>A) c.3210G>A (p.Gln1070=) c.3177G>A (p.Gln1059=) c.3390G>A (p.Gln1130=) | |
X | g.53234799T>A | CA413140279 | IQSEC2 | c.4046A>T (p.Gln1349Leu) c.1453+984A>T c.962+984A>T c.316+1523A>T (n.316+1523A>T) c.514+1523A>T (n.514+1523A>T) c.*372A>T (n.*372A>T) c.3887A>T (p.Gln1296Leu) c.3857A>T (p.Gln1286Leu) c.3983A>T (p.Gln1328Leu) c.3272A>T (p.Gln1091Leu) c.3597+984A>T (n.3597+984A>T) c.3547+1523A>T (n.3547+1523A>T) c.3209A>T (p.Gln1070Leu) c.3176A>T (p.Gln1059Leu) c.3389A>T (p.Gln1130Leu) | |
X | g.53234799T>C | CA413140276 | IQSEC2 | c.4046A>G (p.Gln1349Arg) c.1453+984A>G c.962+984A>G c.316+1523A>G (n.316+1523A>G) c.514+1523A>G (n.514+1523A>G) c.*372A>G (n.*372A>G) c.3887A>G (p.Gln1296Arg) c.3857A>G (p.Gln1286Arg) c.3983A>G (p.Gln1328Arg) c.3272A>G (p.Gln1091Arg) c.3597+984A>G (n.3597+984A>G) c.3547+1523A>G (n.3547+1523A>G) c.3209A>G (p.Gln1070Arg) c.3176A>G (p.Gln1059Arg) c.3389A>G (p.Gln1130Arg) | |
X | g.53234799T>G | CA413140278 | IQSEC2 | c.4046A>C (p.Gln1349Pro) c.1453+984A>C c.962+984A>C c.316+1523A>C (n.316+1523A>C) c.514+1523A>C (n.514+1523A>C) c.*372A>C (n.*372A>C) c.3887A>C (p.Gln1296Pro) c.3857A>C (p.Gln1286Pro) c.3983A>C (p.Gln1328Pro) c.3272A>C (p.Gln1091Pro) c.3597+984A>C (n.3597+984A>C) c.3547+1523A>C (n.3547+1523A>C) c.3209A>C (p.Gln1070Pro) c.3176A>C (p.Gln1059Pro) c.3389A>C (p.Gln1130Pro) | |
X | g.53234799_53234804del | CA2562300609 | IQSEC2 | c.4041_4046del (p.Gln1348_Gln1349del) c.1453+979_1453+984del c.962+979_962+984del c.316+1518_316+1523del (n.316+1518_316+1523del) c.514+1518_514+1523del (n.514+1518_514+1523del) c.*367_*372del (n.*367_*372del) c.3882_3887del (p.Gln1295_Gln1296del) c.3852_3857del (p.Gln1285_Gln1286del) c.3978_3983del (p.Gln1327_Gln1328del) c.3267_3272del (p.Gln1090_Gln1091del) c.3597+979_3597+984del (n.3597+979_3597+984del) c.3547+1518_3547+1523del (n.3547+1518_3547+1523del) c.3204_3209del (p.Gln1069_Gln1070del) c.3171_3176del (p.Gln1058_Gln1059del) c.3384_3389del (p.Gln1129_Gln1130del) | |
X | g.53234800G>A | CA16621439 | IQSEC2 | c.4045C>T (p.Gln1349Ter) c.1453+983C>T c.962+983C>T c.316+1522C>T (n.316+1522C>T) c.514+1522C>T (n.514+1522C>T) c.*371C>T (n.*371C>T) c.3886C>T (p.Gln1296Ter) c.3856C>T (p.Gln1286Ter) c.3982C>T (p.Gln1328Ter) c.3271C>T (p.Gln1091Ter) c.3597+983C>T (n.3597+983C>T) c.3547+1522C>T (n.3547+1522C>T) c.3208C>T (p.Gln1070Ter) c.3175C>T (p.Gln1059Ter) c.3388C>T (p.Gln1130Ter) | ClinVar dbSNP |
X | g.53234800G>C | CA413140283 | IQSEC2 | c.4045C>G (p.Gln1349Glu) c.1453+983C>G c.962+983C>G c.316+1522C>G (n.316+1522C>G) c.514+1522C>G (n.514+1522C>G) c.*371C>G (n.*371C>G) c.3886C>G (p.Gln1296Glu) c.3856C>G (p.Gln1286Glu) c.3982C>G (p.Gln1328Glu) c.3271C>G (p.Gln1091Glu) c.3597+983C>G (n.3597+983C>G) c.3547+1522C>G (n.3547+1522C>G) c.3208C>G (p.Gln1070Glu) c.3175C>G (p.Gln1059Glu) c.3388C>G (p.Gln1130Glu) | |
X | g.53234800G= | CA2429770598 | IQSEC2 | c.4045C= (p.Gln1349=) c.1453+983C= c.962+983C= c.316+1522C= (n.316+1522C=) c.514+1522C= (n.514+1522C=) c.*371C= (n.*371C=) c.3886C= (p.Gln1296=) c.3856C= (p.Gln1286=) c.3982C= (p.Gln1328=) c.3271C= (p.Gln1091=) c.3597+983C= (n.3597+983C=) c.3547+1522C= (n.3547+1522C=) c.3208C= (p.Gln1070=) c.3175C= (p.Gln1059=) c.3388C= (p.Gln1130=) | |
X | g.53234800G>T | CA413140286 | IQSEC2 | c.4045C>A (p.Gln1349Lys) c.1453+983C>A c.962+983C>A c.316+1522C>A (n.316+1522C>A) c.514+1522C>A (n.514+1522C>A) c.*371C>A (n.*371C>A) c.3886C>A (p.Gln1296Lys) c.3856C>A (p.Gln1286Lys) c.3982C>A (p.Gln1328Lys) c.3271C>A (p.Gln1091Lys) c.3597+983C>A (n.3597+983C>A) c.3547+1522C>A (n.3547+1522C>A) c.3208C>A (p.Gln1070Lys) c.3175C>A (p.Gln1059Lys) c.3388C>A (p.Gln1130Lys) | gnomAD v4 |
X | g.53234801C>A | CA413140288 | IQSEC2 | c.4044G>T (p.Gln1348His) c.1453+982G>T c.962+982G>T c.316+1521G>T (n.316+1521G>T) c.514+1521G>T (n.514+1521G>T) c.*370G>T (n.*370G>T) c.3885G>T (p.Gln1295His) c.3855G>T (p.Gln1285His) c.3981G>T (p.Gln1327His) c.3270G>T (p.Gln1090His) c.3597+982G>T (n.3597+982G>T) c.3547+1521G>T (n.3547+1521G>T) c.3207G>T (p.Gln1069His) c.3174G>T (p.Gln1058His) c.3387G>T (p.Gln1129His) | |
X | g.53234801C>G | CA413140290 | IQSEC2 | c.4044G>C (p.Gln1348His) c.1453+982G>C c.962+982G>C c.316+1521G>C (n.316+1521G>C) c.514+1521G>C (n.514+1521G>C) c.*370G>C (n.*370G>C) c.3885G>C (p.Gln1295His) c.3855G>C (p.Gln1285His) c.3981G>C (p.Gln1327His) c.3270G>C (p.Gln1090His) c.3597+982G>C (n.3597+982G>C) c.3547+1521G>C (n.3547+1521G>C) c.3207G>C (p.Gln1069His) c.3174G>C (p.Gln1058His) c.3387G>C (p.Gln1129His) | |
X | g.53234801C>T | CA516673643 | IQSEC2 | c.4044G>A (p.Gln1348=) c.1453+982G>A c.962+982G>A c.316+1521G>A (n.316+1521G>A) c.514+1521G>A (n.514+1521G>A) c.*370G>A (n.*370G>A) c.3885G>A (p.Gln1295=) c.3855G>A (p.Gln1285=) c.3981G>A (p.Gln1327=) c.3270G>A (p.Gln1090=) c.3597+982G>A (n.3597+982G>A) c.3547+1521G>A (n.3547+1521G>A) c.3207G>A (p.Gln1069=) c.3174G>A (p.Gln1058=) c.3387G>A (p.Gln1129=) | gnomAD v4 |
X | g.53234802T>A | CA413140291 | IQSEC2 | c.4043A>T (p.Gln1348Leu) c.1453+981A>T c.962+981A>T c.316+1520A>T (n.316+1520A>T) c.514+1520A>T (n.514+1520A>T) c.*369A>T (n.*369A>T) c.3884A>T (p.Gln1295Leu) c.3854A>T (p.Gln1285Leu) c.3980A>T (p.Gln1327Leu) c.3269A>T (p.Gln1090Leu) c.3597+981A>T (n.3597+981A>T) c.3547+1520A>T (n.3547+1520A>T) c.3206A>T (p.Gln1069Leu) c.3173A>T (p.Gln1058Leu) c.3386A>T (p.Gln1129Leu) | ClinVar |
X | g.53234802T>C | CA413140293 | IQSEC2 | c.4043A>G (p.Gln1348Arg) c.1453+981A>G c.962+981A>G c.316+1520A>G (n.316+1520A>G) c.514+1520A>G (n.514+1520A>G) c.*369A>G (n.*369A>G) c.3884A>G (p.Gln1295Arg) c.3854A>G (p.Gln1285Arg) c.3980A>G (p.Gln1327Arg) c.3269A>G (p.Gln1090Arg) c.3597+981A>G (n.3597+981A>G) c.3547+1520A>G (n.3547+1520A>G) c.3206A>G (p.Gln1069Arg) c.3173A>G (p.Gln1058Arg) c.3386A>G (p.Gln1129Arg) | |
X | g.53234802T>G | CA413140295 | IQSEC2 | c.4043A>C (p.Gln1348Pro) c.1453+981A>C c.962+981A>C c.316+1520A>C (n.316+1520A>C) c.514+1520A>C (n.514+1520A>C) c.*369A>C (n.*369A>C) c.3884A>C (p.Gln1295Pro) c.3854A>C (p.Gln1285Pro) c.3980A>C (p.Gln1327Pro) c.3269A>C (p.Gln1090Pro) c.3597+981A>C (n.3597+981A>C) c.3547+1520A>C (n.3547+1520A>C) c.3206A>C (p.Gln1069Pro) c.3173A>C (p.Gln1058Pro) c.3386A>C (p.Gln1129Pro) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53234802T= | CA2429770599 | IQSEC2 | c.4043A= (p.Gln1348=) c.1453+981A= c.962+981A= c.316+1520A= (n.316+1520A=) c.514+1520A= (n.514+1520A=) c.*369A= (n.*369A=) c.3884A= (p.Gln1295=) c.3854A= (p.Gln1285=) c.3980A= (p.Gln1327=) c.3269A= (p.Gln1090=) c.3597+981A= (n.3597+981A=) c.3547+1520A= (n.3547+1520A=) c.3206A= (p.Gln1069=) c.3173A= (p.Gln1058=) c.3386A= (p.Gln1129=) | |
X | g.53234803G>A | CA413140297 | IQSEC2 | c.4042C>T (p.Gln1348Ter) c.1453+980C>T c.962+980C>T c.316+1519C>T (n.316+1519C>T) c.514+1519C>T (n.514+1519C>T) c.*368C>T (n.*368C>T) c.3883C>T (p.Gln1295Ter) c.3853C>T (p.Gln1285Ter) c.3979C>T (p.Gln1327Ter) c.3268C>T (p.Gln1090Ter) c.3597+980C>T (n.3597+980C>T) c.3547+1519C>T (n.3547+1519C>T) c.3205C>T (p.Gln1069Ter) c.3172C>T (p.Gln1058Ter) c.3385C>T (p.Gln1129Ter) | |
X | g.53234803G>C | CA413140298 | IQSEC2 | c.4042C>G (p.Gln1348Glu) c.1453+980C>G c.962+980C>G c.316+1519C>G (n.316+1519C>G) c.514+1519C>G (n.514+1519C>G) c.*368C>G (n.*368C>G) c.3883C>G (p.Gln1295Glu) c.3853C>G (p.Gln1285Glu) c.3979C>G (p.Gln1327Glu) c.3268C>G (p.Gln1090Glu) c.3597+980C>G (n.3597+980C>G) c.3547+1519C>G (n.3547+1519C>G) c.3205C>G (p.Gln1069Glu) c.3172C>G (p.Gln1058Glu) c.3385C>G (p.Gln1129Glu) | |
X | g.53234803G>T | CA413140300 | IQSEC2 | c.4042C>A (p.Gln1348Lys) c.1453+980C>A c.962+980C>A c.316+1519C>A (n.316+1519C>A) c.514+1519C>A (n.514+1519C>A) c.*368C>A (n.*368C>A) c.3883C>A (p.Gln1295Lys) c.3853C>A (p.Gln1285Lys) c.3979C>A (p.Gln1327Lys) c.3268C>A (p.Gln1090Lys) c.3597+980C>A (n.3597+980C>A) c.3547+1519C>A (n.3547+1519C>A) c.3205C>A (p.Gln1069Lys) c.3172C>A (p.Gln1058Lys) c.3385C>A (p.Gln1129Lys) | gnomAD v4 |
X | g.53234806del | CA2693794290 | IQSEC2 | c.4042del (p.Gln1348SerfsTer?) c.1453+980del c.962+980del c.316+1519del (n.316+1519del) c.514+1519del (n.514+1519del) c.*368del (n.*368del) c.3883del (p.Gln1295SerfsTer?) c.3853del (p.Gln1285SerfsTer?) c.3979del (p.Gln1327SerfsTer?) c.3268del (p.Gln1090SerfsTer?) c.3597+980del (n.3597+980del) c.3547+1519del (n.3547+1519del) c.3205del (p.Gln1069SerfsTer?) c.3172del (p.Gln1058SerfsTer?) c.3385del (p.Gln1129SerfsTer?) | gnomAD v4 |
X | g.53234804G>A | CA516673646 | IQSEC2 | c.4041C>T (p.Pro1347=) c.1453+979C>T c.962+979C>T c.316+1518C>T (n.316+1518C>T) c.514+1518C>T (n.514+1518C>T) c.*367C>T (n.*367C>T) c.3882C>T (p.Pro1294=) c.3852C>T (p.Pro1284=) c.3978C>T (p.Pro1326=) c.3267C>T (p.Pro1089=) c.3597+979C>T (n.3597+979C>T) c.3547+1518C>T (n.3547+1518C>T) c.3204C>T (p.Pro1068=) c.3171C>T (p.Pro1057=) c.3384C>T (p.Pro1128=) | |
X | g.53234804G>C | CA516673647 | IQSEC2 | c.4041C>G (p.Pro1347=) c.1453+979C>G c.962+979C>G c.316+1518C>G (n.316+1518C>G) c.514+1518C>G (n.514+1518C>G) c.*367C>G (n.*367C>G) c.3882C>G (p.Pro1294=) c.3852C>G (p.Pro1284=) c.3978C>G (p.Pro1326=) c.3267C>G (p.Pro1089=) c.3597+979C>G (n.3597+979C>G) c.3547+1518C>G (n.3547+1518C>G) c.3204C>G (p.Pro1068=) c.3171C>G (p.Pro1057=) c.3384C>G (p.Pro1128=) | |
X | g.53234804G>T | CA516673648 | IQSEC2 | c.4041C>A (p.Pro1347=) c.1453+979C>A c.962+979C>A c.316+1518C>A (n.316+1518C>A) c.514+1518C>A (n.514+1518C>A) c.*367C>A (n.*367C>A) c.3882C>A (p.Pro1294=) c.3852C>A (p.Pro1284=) c.3978C>A (p.Pro1326=) c.3267C>A (p.Pro1089=) c.3597+979C>A (n.3597+979C>A) c.3547+1518C>A (n.3547+1518C>A) c.3204C>A (p.Pro1068=) c.3171C>A (p.Pro1057=) c.3384C>A (p.Pro1128=) | gnomAD v4 |
X | g.53234805G>A | CA413140306 | IQSEC2 | c.4040C>T (p.Pro1347Leu) c.1453+978C>T c.962+978C>T c.316+1517C>T (n.316+1517C>T) c.514+1517C>T (n.514+1517C>T) c.*366C>T (n.*366C>T) c.3881C>T (p.Pro1294Leu) c.3851C>T (p.Pro1284Leu) c.3977C>T (p.Pro1326Leu) c.3266C>T (p.Pro1089Leu) c.3597+978C>T (n.3597+978C>T) c.3547+1517C>T (n.3547+1517C>T) c.3203C>T (p.Pro1068Leu) c.3170C>T (p.Pro1057Leu) c.3383C>T (p.Pro1128Leu) | |
X | g.53234805G>C | CA413140304 | IQSEC2 | c.4040C>G (p.Pro1347Arg) c.1453+978C>G c.962+978C>G c.316+1517C>G (n.316+1517C>G) c.514+1517C>G (n.514+1517C>G) c.*366C>G (n.*366C>G) c.3881C>G (p.Pro1294Arg) c.3851C>G (p.Pro1284Arg) c.3977C>G (p.Pro1326Arg) c.3266C>G (p.Pro1089Arg) c.3597+978C>G (n.3597+978C>G) c.3547+1517C>G (n.3547+1517C>G) c.3203C>G (p.Pro1068Arg) c.3170C>G (p.Pro1057Arg) c.3383C>G (p.Pro1128Arg) | |
X | g.53234805G>T | CA413140302 | IQSEC2 | c.4040C>A (p.Pro1347His) c.1453+978C>A c.962+978C>A c.316+1517C>A (n.316+1517C>A) c.514+1517C>A (n.514+1517C>A) c.*366C>A (n.*366C>A) c.3881C>A (p.Pro1294His) c.3851C>A (p.Pro1284His) c.3977C>A (p.Pro1326His) c.3266C>A (p.Pro1089His) c.3597+978C>A (n.3597+978C>A) c.3547+1517C>A (n.3547+1517C>A) c.3203C>A (p.Pro1068His) c.3170C>A (p.Pro1057His) c.3383C>A (p.Pro1128His) | |
X | g.53234806G>A | CA413140307 | IQSEC2 | c.4039C>T (p.Pro1347Ser) c.1453+977C>T c.962+977C>T c.316+1516C>T (n.316+1516C>T) c.514+1516C>T (n.514+1516C>T) c.*365C>T (n.*365C>T) c.3880C>T (p.Pro1294Ser) c.3850C>T (p.Pro1284Ser) c.3976C>T (p.Pro1326Ser) c.3265C>T (p.Pro1089Ser) c.3597+977C>T (n.3597+977C>T) c.3547+1516C>T (n.3547+1516C>T) c.3202C>T (p.Pro1068Ser) c.3169C>T (p.Pro1057Ser) c.3382C>T (p.Pro1128Ser) | |
X | g.53234806G>C | CA413140309 | IQSEC2 | c.4039C>G (p.Pro1347Ala) c.1453+977C>G c.962+977C>G c.316+1516C>G (n.316+1516C>G) c.514+1516C>G (n.514+1516C>G) c.*365C>G (n.*365C>G) c.3880C>G (p.Pro1294Ala) c.3850C>G (p.Pro1284Ala) c.3976C>G (p.Pro1326Ala) c.3265C>G (p.Pro1089Ala) c.3597+977C>G (n.3597+977C>G) c.3547+1516C>G (n.3547+1516C>G) c.3202C>G (p.Pro1068Ala) c.3169C>G (p.Pro1057Ala) c.3382C>G (p.Pro1128Ala) | |
X | g.53234806G= | CA2429770600 | IQSEC2 | c.4039C= (p.Pro1347=) c.1453+977C= c.962+977C= c.316+1516C= (n.316+1516C=) c.514+1516C= (n.514+1516C=) c.*365C= (n.*365C=) c.3880C= (p.Pro1294=) c.3850C= (p.Pro1284=) c.3976C= (p.Pro1326=) c.3265C= (p.Pro1089=) c.3597+977C= (n.3597+977C=) c.3547+1516C= (n.3547+1516C=) c.3202C= (p.Pro1068=) c.3169C= (p.Pro1057=) c.3382C= (p.Pro1128=) | |
X | g.53234806G>T | CA10419773 | IQSEC2 | c.4039C>A (p.Pro1347Thr) c.1453+977C>A c.962+977C>A c.316+1516C>A (n.316+1516C>A) c.514+1516C>A (n.514+1516C>A) c.*365C>A (n.*365C>A) c.3880C>A (p.Pro1294Thr) c.3850C>A (p.Pro1284Thr) c.3976C>A (p.Pro1326Thr) c.3265C>A (p.Pro1089Thr) c.3597+977C>A (n.3597+977C>A) c.3547+1516C>A (n.3547+1516C>A) c.3202C>A (p.Pro1068Thr) c.3169C>A (p.Pro1057Thr) c.3382C>A (p.Pro1128Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |