Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53234897_53235077del | CA2499226779 | IQSEC2 | c.3770_3950del (p.Phe1257SerfsTer?) c.1453+708_1453+888del c.962+708_962+888del c.316+1247_316+1427del (n.316+1247_316+1427del) c.514+1247_514+1427del (n.514+1247_514+1427del) c.*96_*276del (n.*96_*276del) c.3611_3791del (p.Phe1204SerfsTer?) c.3581_3761del (p.Phe1194SerfsTer?) c.3707_3887del (p.Phe1236SerfsTer?) c.2996_3176del (p.Phe999SerfsTer?) c.3597+708_3597+888del (n.3597+708_3597+888del) c.3547+1247_3547+1427del (n.3547+1247_3547+1427del) c.2933_3113del (p.Phe978SerfsTer?) c.2900_3080del (p.Phe967SerfsTer?) c.3113_3293del (p.Phe1038SerfsTer?) | ClinVar dbSNP |
X | g.53235051T>A | CA413141876 | IQSEC2 | c.3794A>T (p.Lys1265Met) c.1453+732A>T c.962+732A>T c.316+1271A>T (n.316+1271A>T) c.514+1271A>T (n.514+1271A>T) c.*120A>T (n.*120A>T) c.3635A>T (p.Lys1212Met) c.3605A>T (p.Lys1202Met) c.3731A>T (p.Lys1244Met) c.3020A>T (p.Lys1007Met) c.3597+732A>T (n.3597+732A>T) c.3547+1271A>T (n.3547+1271A>T) c.2957A>T (p.Lys986Met) c.2924A>T (p.Lys975Met) c.3137A>T (p.Lys1046Met) | |
X | g.53235051T>C | CA10419782 | IQSEC2 | c.3794A>G (p.Lys1265Arg) c.1453+732A>G c.962+732A>G c.316+1271A>G (n.316+1271A>G) c.514+1271A>G (n.514+1271A>G) c.*120A>G (n.*120A>G) c.3635A>G (p.Lys1212Arg) c.3605A>G (p.Lys1202Arg) c.3731A>G (p.Lys1244Arg) c.3020A>G (p.Lys1007Arg) c.3597+732A>G (n.3597+732A>G) c.3547+1271A>G (n.3547+1271A>G) c.2957A>G (p.Lys986Arg) c.2924A>G (p.Lys975Arg) c.3137A>G (p.Lys1046Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53235051T>G | CA413141882 | IQSEC2 | c.3794A>C (p.Lys1265Thr) c.1453+732A>C c.962+732A>C c.316+1271A>C (n.316+1271A>C) c.514+1271A>C (n.514+1271A>C) c.*120A>C (n.*120A>C) c.3635A>C (p.Lys1212Thr) c.3605A>C (p.Lys1202Thr) c.3731A>C (p.Lys1244Thr) c.3020A>C (p.Lys1007Thr) c.3597+732A>C (n.3597+732A>C) c.3547+1271A>C (n.3547+1271A>C) c.2957A>C (p.Lys986Thr) c.2924A>C (p.Lys975Thr) c.3137A>C (p.Lys1046Thr) | |
X | g.53235051T= | CA2429770682 | IQSEC2 | c.3794A= (p.Lys1265=) c.1453+732A= c.962+732A= c.316+1271A= (n.316+1271A=) c.514+1271A= (n.514+1271A=) c.*120A= (n.*120A=) c.3635A= (p.Lys1212=) c.3605A= (p.Lys1202=) c.3731A= (p.Lys1244=) c.3020A= (p.Lys1007=) c.3597+732A= (n.3597+732A=) c.3547+1271A= (n.3547+1271A=) c.2957A= (p.Lys986=) c.2924A= (p.Lys975=) c.3137A= (p.Lys1046=) | |
X | g.53235052T>A | CA413141892 | IQSEC2 | c.3793A>T (p.Lys1265Ter) c.1453+731A>T c.962+731A>T c.316+1270A>T (n.316+1270A>T) c.514+1270A>T (n.514+1270A>T) c.*119A>T (n.*119A>T) c.3634A>T (p.Lys1212Ter) c.3604A>T (p.Lys1202Ter) c.3730A>T (p.Lys1244Ter) c.3019A>T (p.Lys1007Ter) c.3597+731A>T (n.3597+731A>T) c.3547+1270A>T (n.3547+1270A>T) c.2956A>T (p.Lys986Ter) c.2923A>T (p.Lys975Ter) c.3136A>T (p.Lys1046Ter) | |
X | g.53235052T>C | CA413141889 | IQSEC2 | c.3793A>G (p.Lys1265Glu) c.1453+731A>G c.962+731A>G c.316+1270A>G (n.316+1270A>G) c.514+1270A>G (n.514+1270A>G) c.*119A>G (n.*119A>G) c.3634A>G (p.Lys1212Glu) c.3604A>G (p.Lys1202Glu) c.3730A>G (p.Lys1244Glu) c.3019A>G (p.Lys1007Glu) c.3597+731A>G (n.3597+731A>G) c.3547+1270A>G (n.3547+1270A>G) c.2956A>G (p.Lys986Glu) c.2923A>G (p.Lys975Glu) c.3136A>G (p.Lys1046Glu) | |
X | g.53235052T>G | CA413141887 | IQSEC2 | c.3793A>C (p.Lys1265Gln) c.1453+731A>C c.962+731A>C c.316+1270A>C (n.316+1270A>C) c.514+1270A>C (n.514+1270A>C) c.*119A>C (n.*119A>C) c.3634A>C (p.Lys1212Gln) c.3604A>C (p.Lys1202Gln) c.3730A>C (p.Lys1244Gln) c.3019A>C (p.Lys1007Gln) c.3597+731A>C (n.3597+731A>C) c.3547+1270A>C (n.3547+1270A>C) c.2956A>C (p.Lys986Gln) c.2923A>C (p.Lys975Gln) c.3136A>C (p.Lys1046Gln) | |
X | g.53235053G>A | CA516673874 | IQSEC2 | c.3792C>T (p.Ser1264=) c.1453+730C>T c.962+730C>T c.316+1269C>T (n.316+1269C>T) c.514+1269C>T (n.514+1269C>T) c.*118C>T (n.*118C>T) c.3633C>T (p.Ser1211=) c.3603C>T (p.Ser1201=) c.3729C>T (p.Ser1243=) c.3018C>T (p.Ser1006=) c.3597+730C>T (n.3597+730C>T) c.3547+1269C>T (n.3547+1269C>T) c.2955C>T (p.Ser985=) c.2922C>T (p.Ser974=) c.3135C>T (p.Ser1045=) | |
X | g.53235053G>C | CA413141893 | IQSEC2 | c.3792C>G (p.Ser1264Arg) c.1453+730C>G c.962+730C>G c.316+1269C>G (n.316+1269C>G) c.514+1269C>G (n.514+1269C>G) c.*118C>G (n.*118C>G) c.3633C>G (p.Ser1211Arg) c.3603C>G (p.Ser1201Arg) c.3729C>G (p.Ser1243Arg) c.3018C>G (p.Ser1006Arg) c.3597+730C>G (n.3597+730C>G) c.3547+1269C>G (n.3547+1269C>G) c.2955C>G (p.Ser985Arg) c.2922C>G (p.Ser974Arg) c.3135C>G (p.Ser1045Arg) | |
X | g.53235053G>T | CA413141897 | IQSEC2 | c.3792C>A (p.Ser1264Arg) c.1453+730C>A c.962+730C>A c.316+1269C>A (n.316+1269C>A) c.514+1269C>A (n.514+1269C>A) c.*118C>A (n.*118C>A) c.3633C>A (p.Ser1211Arg) c.3603C>A (p.Ser1201Arg) c.3729C>A (p.Ser1243Arg) c.3018C>A (p.Ser1006Arg) c.3597+730C>A (n.3597+730C>A) c.3547+1269C>A (n.3547+1269C>A) c.2955C>A (p.Ser985Arg) c.2922C>A (p.Ser974Arg) c.3135C>A (p.Ser1045Arg) | |
X | g.53235054C>A | CA413141901 | IQSEC2 | c.3791G>T (p.Ser1264Ile) c.1453+729G>T c.962+729G>T c.316+1268G>T (n.316+1268G>T) c.514+1268G>T (n.514+1268G>T) c.*117G>T (n.*117G>T) c.3632G>T (p.Ser1211Ile) c.3602G>T (p.Ser1201Ile) c.3728G>T (p.Ser1243Ile) c.3017G>T (p.Ser1006Ile) c.3597+729G>T (n.3597+729G>T) c.3547+1268G>T (n.3547+1268G>T) c.2954G>T (p.Ser985Ile) c.2921G>T (p.Ser974Ile) c.3134G>T (p.Ser1045Ile) | |
X | g.53235054C>G | CA413141904 | IQSEC2 | c.3791G>C (p.Ser1264Thr) c.1453+729G>C c.962+729G>C c.316+1268G>C (n.316+1268G>C) c.514+1268G>C (n.514+1268G>C) c.*117G>C (n.*117G>C) c.3632G>C (p.Ser1211Thr) c.3602G>C (p.Ser1201Thr) c.3728G>C (p.Ser1243Thr) c.3017G>C (p.Ser1006Thr) c.3597+729G>C (n.3597+729G>C) c.3547+1268G>C (n.3547+1268G>C) c.2954G>C (p.Ser985Thr) c.2921G>C (p.Ser974Thr) c.3134G>C (p.Ser1045Thr) | |
X | g.53235054C>T | CA413141908 | IQSEC2 | c.3791G>A (p.Ser1264Asn) c.1453+729G>A c.962+729G>A c.316+1268G>A (n.316+1268G>A) c.514+1268G>A (n.514+1268G>A) c.*117G>A (n.*117G>A) c.3632G>A (p.Ser1211Asn) c.3602G>A (p.Ser1201Asn) c.3728G>A (p.Ser1243Asn) c.3017G>A (p.Ser1006Asn) c.3597+729G>A (n.3597+729G>A) c.3547+1268G>A (n.3547+1268G>A) c.2954G>A (p.Ser985Asn) c.2921G>A (p.Ser974Asn) c.3134G>A (p.Ser1045Asn) | |
X | g.53235055T>A | CA413141911 | IQSEC2 | c.3790A>T (p.Ser1264Cys) c.1453+728A>T c.962+728A>T c.316+1267A>T (n.316+1267A>T) c.514+1267A>T (n.514+1267A>T) c.*116A>T (n.*116A>T) c.3631A>T (p.Ser1211Cys) c.3601A>T (p.Ser1201Cys) c.3727A>T (p.Ser1243Cys) c.3016A>T (p.Ser1006Cys) c.3597+728A>T (n.3597+728A>T) c.3547+1267A>T (n.3547+1267A>T) c.2953A>T (p.Ser985Cys) c.2920A>T (p.Ser974Cys) c.3133A>T (p.Ser1045Cys) | |
X | g.53235055T>C | CA413141914 | IQSEC2 | c.3790A>G (p.Ser1264Gly) c.1453+728A>G c.962+728A>G c.316+1267A>G (n.316+1267A>G) c.514+1267A>G (n.514+1267A>G) c.*116A>G (n.*116A>G) c.3631A>G (p.Ser1211Gly) c.3601A>G (p.Ser1201Gly) c.3727A>G (p.Ser1243Gly) c.3016A>G (p.Ser1006Gly) c.3597+728A>G (n.3597+728A>G) c.3547+1267A>G (n.3547+1267A>G) c.2953A>G (p.Ser985Gly) c.2920A>G (p.Ser974Gly) c.3133A>G (p.Ser1045Gly) | gnomAD v3 gnomAD v4 |
X | g.53235055T>G | CA413141917 | IQSEC2 | c.3790A>C (p.Ser1264Arg) c.1453+728A>C c.962+728A>C c.316+1267A>C (n.316+1267A>C) c.514+1267A>C (n.514+1267A>C) c.*116A>C (n.*116A>C) c.3631A>C (p.Ser1211Arg) c.3601A>C (p.Ser1201Arg) c.3727A>C (p.Ser1243Arg) c.3016A>C (p.Ser1006Arg) c.3597+728A>C (n.3597+728A>C) c.3547+1267A>C (n.3547+1267A>C) c.2953A>C (p.Ser985Arg) c.2920A>C (p.Ser974Arg) c.3133A>C (p.Ser1045Arg) | |
X | g.53235056T>A | CA516673878 | IQSEC2 | c.3789A>T (p.Gly1263=) c.1453+727A>T c.962+727A>T c.316+1266A>T (n.316+1266A>T) c.514+1266A>T (n.514+1266A>T) c.*115A>T (n.*115A>T) c.3630A>T (p.Gly1210=) c.3600A>T (p.Gly1200=) c.3726A>T (p.Gly1242=) c.3015A>T (p.Gly1005=) c.3597+727A>T (n.3597+727A>T) c.3547+1266A>T (n.3547+1266A>T) c.2952A>T (p.Gly984=) c.2919A>T (p.Gly973=) c.3132A>T (p.Gly1044=) | |
X | g.53235056T>C | CA516673879 | IQSEC2 | c.3789A>G (p.Gly1263=) c.1453+727A>G c.962+727A>G c.316+1266A>G (n.316+1266A>G) c.514+1266A>G (n.514+1266A>G) c.*115A>G (n.*115A>G) c.3630A>G (p.Gly1210=) c.3600A>G (p.Gly1200=) c.3726A>G (p.Gly1242=) c.3015A>G (p.Gly1005=) c.3597+727A>G (n.3597+727A>G) c.3547+1266A>G (n.3547+1266A>G) c.2952A>G (p.Gly984=) c.2919A>G (p.Gly973=) c.3132A>G (p.Gly1044=) | |
X | g.53235056T>G | CA516673880 | IQSEC2 | c.3789A>C (p.Gly1263=) c.1453+727A>C c.962+727A>C c.316+1266A>C (n.316+1266A>C) c.514+1266A>C (n.514+1266A>C) c.*115A>C (n.*115A>C) c.3630A>C (p.Gly1210=) c.3600A>C (p.Gly1200=) c.3726A>C (p.Gly1242=) c.3015A>C (p.Gly1005=) c.3597+727A>C (n.3597+727A>C) c.3547+1266A>C (n.3547+1266A>C) c.2952A>C (p.Gly984=) c.2919A>C (p.Gly973=) c.3132A>C (p.Gly1044=) | |
X | g.53235057C>A | CA413141919 | IQSEC2 | c.3788G>T (p.Gly1263Val) c.1453+726G>T c.962+726G>T c.316+1265G>T (n.316+1265G>T) c.514+1265G>T (n.514+1265G>T) c.*114G>T (n.*114G>T) c.3629G>T (p.Gly1210Val) c.3599G>T (p.Gly1200Val) c.3725G>T (p.Gly1242Val) c.3014G>T (p.Gly1005Val) c.3597+726G>T (n.3597+726G>T) c.3547+1265G>T (n.3547+1265G>T) c.2951G>T (p.Gly984Val) c.2918G>T (p.Gly973Val) c.3131G>T (p.Gly1044Val) | |
X | g.53235057C>G | CA413141922 | IQSEC2 | c.3788G>C (p.Gly1263Ala) c.1453+726G>C c.962+726G>C c.316+1265G>C (n.316+1265G>C) c.514+1265G>C (n.514+1265G>C) c.*114G>C (n.*114G>C) c.3629G>C (p.Gly1210Ala) c.3599G>C (p.Gly1200Ala) c.3725G>C (p.Gly1242Ala) c.3014G>C (p.Gly1005Ala) c.3597+726G>C (n.3597+726G>C) c.3547+1265G>C (n.3547+1265G>C) c.2951G>C (p.Gly984Ala) c.2918G>C (p.Gly973Ala) c.3131G>C (p.Gly1044Ala) | |
X | g.53235057C>T | CA413141926 | IQSEC2 | c.3788G>A (p.Gly1263Glu) c.1453+726G>A c.962+726G>A c.316+1265G>A (n.316+1265G>A) c.514+1265G>A (n.514+1265G>A) c.*114G>A (n.*114G>A) c.3629G>A (p.Gly1210Glu) c.3599G>A (p.Gly1200Glu) c.3725G>A (p.Gly1242Glu) c.3014G>A (p.Gly1005Glu) c.3597+726G>A (n.3597+726G>A) c.3547+1265G>A (n.3547+1265G>A) c.2951G>A (p.Gly984Glu) c.2918G>A (p.Gly973Glu) c.3131G>A (p.Gly1044Glu) | |
X | g.53235058C>A | CA413141933 | IQSEC2 | c.3787G>T (p.Gly1263Ter) c.1453+725G>T c.962+725G>T c.316+1264G>T (n.316+1264G>T) c.514+1264G>T (n.514+1264G>T) c.*113G>T (n.*113G>T) c.3628G>T (p.Gly1210Ter) c.3598G>T (p.Gly1200Ter) c.3724G>T (p.Gly1242Ter) c.3013G>T (p.Gly1005Ter) c.3597+725G>T (n.3597+725G>T) c.3547+1264G>T (n.3547+1264G>T) c.2950G>T (p.Gly984Ter) c.2917G>T (p.Gly973Ter) c.3130G>T (p.Gly1044Ter) | |
X | g.53235058C>G | CA413141935 | IQSEC2 | c.3787G>C (p.Gly1263Arg) c.1453+725G>C c.962+725G>C c.316+1264G>C (n.316+1264G>C) c.514+1264G>C (n.514+1264G>C) c.*113G>C (n.*113G>C) c.3628G>C (p.Gly1210Arg) c.3598G>C (p.Gly1200Arg) c.3724G>C (p.Gly1242Arg) c.3013G>C (p.Gly1005Arg) c.3597+725G>C (n.3597+725G>C) c.3547+1264G>C (n.3547+1264G>C) c.2950G>C (p.Gly984Arg) c.2917G>C (p.Gly973Arg) c.3130G>C (p.Gly1044Arg) | |
X | g.53235058C>T | CA413141929 | IQSEC2 | c.3787G>A (p.Gly1263Arg) c.1453+725G>A c.962+725G>A c.316+1264G>A (n.316+1264G>A) c.514+1264G>A (n.514+1264G>A) c.*113G>A (n.*113G>A) c.3628G>A (p.Gly1210Arg) c.3598G>A (p.Gly1200Arg) c.3724G>A (p.Gly1242Arg) c.3013G>A (p.Gly1005Arg) c.3597+725G>A (n.3597+725G>A) c.3547+1264G>A (n.3547+1264G>A) c.2950G>A (p.Gly984Arg) c.2917G>A (p.Gly973Arg) c.3130G>A (p.Gly1044Arg) | |
X | g.53235059A>C | CA413141939 | IQSEC2 | c.3786T>G (p.Phe1262Leu) c.1453+724T>G c.962+724T>G c.316+1263T>G (n.316+1263T>G) c.514+1263T>G (n.514+1263T>G) c.*112T>G (n.*112T>G) c.3627T>G (p.Phe1209Leu) c.3597T>G (p.Phe1199Leu) c.3723T>G (p.Phe1241Leu) c.3012T>G (p.Phe1004Leu) c.3597+724T>G (n.3597+724T>G) c.3547+1263T>G (n.3547+1263T>G) c.2949T>G (p.Phe983Leu) c.2916T>G (p.Phe972Leu) c.3129T>G (p.Phe1043Leu) | |
X | g.53235059A>G | CA516673883 | IQSEC2 | c.3786T>C (p.Phe1262=) c.1453+724T>C c.962+724T>C c.316+1263T>C (n.316+1263T>C) c.514+1263T>C (n.514+1263T>C) c.*112T>C (n.*112T>C) c.3627T>C (p.Phe1209=) c.3597T>C (p.Phe1199=) c.3723T>C (p.Phe1241=) c.3012T>C (p.Phe1004=) c.3597+724T>C (n.3597+724T>C) c.3547+1263T>C (n.3547+1263T>C) c.2949T>C (p.Phe983=) c.2916T>C (p.Phe972=) c.3129T>C (p.Phe1043=) | |
X | g.53235059A>T | CA413141941 | IQSEC2 | c.3786T>A (p.Phe1262Leu) c.1453+724T>A c.962+724T>A c.316+1263T>A (n.316+1263T>A) c.514+1263T>A (n.514+1263T>A) c.*112T>A (n.*112T>A) c.3627T>A (p.Phe1209Leu) c.3597T>A (p.Phe1199Leu) c.3723T>A (p.Phe1241Leu) c.3012T>A (p.Phe1004Leu) c.3597+724T>A (n.3597+724T>A) c.3547+1263T>A (n.3547+1263T>A) c.2949T>A (p.Phe983Leu) c.2916T>A (p.Phe972Leu) c.3129T>A (p.Phe1043Leu) | |
X | g.53235060A>C | CA413141944 | IQSEC2 | c.3785T>G (p.Phe1262Cys) c.1453+723T>G c.962+723T>G c.316+1262T>G (n.316+1262T>G) c.514+1262T>G (n.514+1262T>G) c.*111T>G (n.*111T>G) c.3626T>G (p.Phe1209Cys) c.3596T>G (p.Phe1199Cys) c.3722T>G (p.Phe1241Cys) c.3011T>G (p.Phe1004Cys) c.3597+723T>G (n.3597+723T>G) c.3547+1262T>G (n.3547+1262T>G) c.2948T>G (p.Phe983Cys) c.2915T>G (p.Phe972Cys) c.3128T>G (p.Phe1043Cys) | |
X | g.53235060A>G | CA413141947 | IQSEC2 | c.3785T>C (p.Phe1262Ser) c.1453+723T>C c.962+723T>C c.316+1262T>C (n.316+1262T>C) c.514+1262T>C (n.514+1262T>C) c.*111T>C (n.*111T>C) c.3626T>C (p.Phe1209Ser) c.3596T>C (p.Phe1199Ser) c.3722T>C (p.Phe1241Ser) c.3011T>C (p.Phe1004Ser) c.3597+723T>C (n.3597+723T>C) c.3547+1262T>C (n.3547+1262T>C) c.2948T>C (p.Phe983Ser) c.2915T>C (p.Phe972Ser) c.3128T>C (p.Phe1043Ser) | |
X | g.53235060A>T | CA413141950 | IQSEC2 | c.3785T>A (p.Phe1262Tyr) c.1453+723T>A c.962+723T>A c.316+1262T>A (n.316+1262T>A) c.514+1262T>A (n.514+1262T>A) c.*111T>A (n.*111T>A) c.3626T>A (p.Phe1209Tyr) c.3596T>A (p.Phe1199Tyr) c.3722T>A (p.Phe1241Tyr) c.3011T>A (p.Phe1004Tyr) c.3597+723T>A (n.3597+723T>A) c.3547+1262T>A (n.3547+1262T>A) c.2948T>A (p.Phe983Tyr) c.2915T>A (p.Phe972Tyr) c.3128T>A (p.Phe1043Tyr) | |
X | g.53235061A>C | CA413141959 | IQSEC2 | c.3784T>G (p.Phe1262Val) c.1453+722T>G c.962+722T>G c.316+1261T>G (n.316+1261T>G) c.514+1261T>G (n.514+1261T>G) c.*110T>G (n.*110T>G) c.3625T>G (p.Phe1209Val) c.3595T>G (p.Phe1199Val) c.3721T>G (p.Phe1241Val) c.3010T>G (p.Phe1004Val) c.3597+722T>G (n.3597+722T>G) c.3547+1261T>G (n.3547+1261T>G) c.2947T>G (p.Phe983Val) c.2914T>G (p.Phe972Val) c.3127T>G (p.Phe1043Val) | |
X | g.53235061A>G | CA413141954 | IQSEC2 | c.3784T>C (p.Phe1262Leu) c.1453+722T>C c.962+722T>C c.316+1261T>C (n.316+1261T>C) c.514+1261T>C (n.514+1261T>C) c.*110T>C (n.*110T>C) c.3625T>C (p.Phe1209Leu) c.3595T>C (p.Phe1199Leu) c.3721T>C (p.Phe1241Leu) c.3010T>C (p.Phe1004Leu) c.3597+722T>C (n.3597+722T>C) c.3547+1261T>C (n.3547+1261T>C) c.2947T>C (p.Phe983Leu) c.2914T>C (p.Phe972Leu) c.3127T>C (p.Phe1043Leu) | |
X | g.53235061A>T | CA413141956 | IQSEC2 | c.3784T>A (p.Phe1262Ile) c.1453+722T>A c.962+722T>A c.316+1261T>A (n.316+1261T>A) c.514+1261T>A (n.514+1261T>A) c.*110T>A (n.*110T>A) c.3625T>A (p.Phe1209Ile) c.3595T>A (p.Phe1199Ile) c.3721T>A (p.Phe1241Ile) c.3010T>A (p.Phe1004Ile) c.3597+722T>A (n.3597+722T>A) c.3547+1261T>A (n.3547+1261T>A) c.2947T>A (p.Phe983Ile) c.2914T>A (p.Phe972Ile) c.3127T>A (p.Phe1043Ile) | |
X | g.53235062T>A | CA516673889 | IQSEC2 | c.3783A>T (p.Leu1261=) c.1453+721A>T c.962+721A>T c.316+1260A>T (n.316+1260A>T) c.514+1260A>T (n.514+1260A>T) c.*109A>T (n.*109A>T) c.3624A>T (p.Leu1208=) c.3594A>T (p.Leu1198=) c.3720A>T (p.Leu1240=) c.3009A>T (p.Leu1003=) c.3597+721A>T (n.3597+721A>T) c.3547+1260A>T (n.3547+1260A>T) c.2946A>T (p.Leu982=) c.2913A>T (p.Leu971=) c.3126A>T (p.Leu1042=) | |
X | g.53235062T>C | CA516673890 | IQSEC2 | c.3783A>G (p.Leu1261=) c.1453+721A>G c.962+721A>G c.316+1260A>G (n.316+1260A>G) c.514+1260A>G (n.514+1260A>G) c.*109A>G (n.*109A>G) c.3624A>G (p.Leu1208=) c.3594A>G (p.Leu1198=) c.3720A>G (p.Leu1240=) c.3009A>G (p.Leu1003=) c.3597+721A>G (n.3597+721A>G) c.3547+1260A>G (n.3547+1260A>G) c.2946A>G (p.Leu982=) c.2913A>G (p.Leu971=) c.3126A>G (p.Leu1042=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53235062T>G | CA516673891 | IQSEC2 | c.3783A>C (p.Leu1261=) c.1453+721A>C c.962+721A>C c.316+1260A>C (n.316+1260A>C) c.514+1260A>C (n.514+1260A>C) c.*109A>C (n.*109A>C) c.3624A>C (p.Leu1208=) c.3594A>C (p.Leu1198=) c.3720A>C (p.Leu1240=) c.3009A>C (p.Leu1003=) c.3597+721A>C (n.3597+721A>C) c.3547+1260A>C (n.3547+1260A>C) c.2946A>C (p.Leu982=) c.2913A>C (p.Leu971=) c.3126A>C (p.Leu1042=) | |
X | g.53235062T= | CA2429770683 | IQSEC2 | c.3783A= (p.Leu1261=) c.1453+721A= c.962+721A= c.316+1260A= (n.316+1260A=) c.514+1260A= (n.514+1260A=) c.*109A= (n.*109A=) c.3624A= (p.Leu1208=) c.3594A= (p.Leu1198=) c.3720A= (p.Leu1240=) c.3009A= (p.Leu1003=) c.3597+721A= (n.3597+721A=) c.3547+1260A= (n.3547+1260A=) c.2946A= (p.Leu982=) c.2913A= (p.Leu971=) c.3126A= (p.Leu1042=) | |
X | g.53235063A>C | CA413141963 | IQSEC2 | c.3782T>G (p.Leu1261Arg) c.1453+720T>G c.962+720T>G c.316+1259T>G (n.316+1259T>G) c.514+1259T>G (n.514+1259T>G) c.*108T>G (n.*108T>G) c.3623T>G (p.Leu1208Arg) c.3593T>G (p.Leu1198Arg) c.3719T>G (p.Leu1240Arg) c.3008T>G (p.Leu1003Arg) c.3597+720T>G (n.3597+720T>G) c.3547+1259T>G (n.3547+1259T>G) c.2945T>G (p.Leu982Arg) c.2912T>G (p.Leu971Arg) c.3125T>G (p.Leu1042Arg) | |
X | g.53235063A>G | CA413141965 | IQSEC2 | c.3782T>C (p.Leu1261Pro) c.1453+720T>C c.962+720T>C c.316+1259T>C (n.316+1259T>C) c.514+1259T>C (n.514+1259T>C) c.*108T>C (n.*108T>C) c.3623T>C (p.Leu1208Pro) c.3593T>C (p.Leu1198Pro) c.3719T>C (p.Leu1240Pro) c.3008T>C (p.Leu1003Pro) c.3597+720T>C (n.3597+720T>C) c.3547+1259T>C (n.3547+1259T>C) c.2945T>C (p.Leu982Pro) c.2912T>C (p.Leu971Pro) c.3125T>C (p.Leu1042Pro) | |
X | g.53235063A>T | CA413141967 | IQSEC2 | c.3782T>A (p.Leu1261Gln) c.1453+720T>A c.962+720T>A c.316+1259T>A (n.316+1259T>A) c.514+1259T>A (n.514+1259T>A) c.*108T>A (n.*108T>A) c.3623T>A (p.Leu1208Gln) c.3593T>A (p.Leu1198Gln) c.3719T>A (p.Leu1240Gln) c.3008T>A (p.Leu1003Gln) c.3597+720T>A (n.3597+720T>A) c.3547+1259T>A (n.3547+1259T>A) c.2945T>A (p.Leu982Gln) c.2912T>A (p.Leu971Gln) c.3125T>A (p.Leu1042Gln) | |
X | g.53235064G>A | CA516673896 | IQSEC2 | c.3781C>T (p.Leu1261=) c.1453+719C>T c.962+719C>T c.316+1258C>T (n.316+1258C>T) c.514+1258C>T (n.514+1258C>T) c.*107C>T (n.*107C>T) c.3622C>T (p.Leu1208=) c.3592C>T (p.Leu1198=) c.3718C>T (p.Leu1240=) c.3007C>T (p.Leu1003=) c.3597+719C>T (n.3597+719C>T) c.3547+1258C>T (n.3547+1258C>T) c.2944C>T (p.Leu982=) c.2911C>T (p.Leu971=) c.3124C>T (p.Leu1042=) | gnomAD v4 |
X | g.53235064G>C | CA413141973 | IQSEC2 | c.3781C>G (p.Leu1261Val) c.1453+719C>G c.962+719C>G c.316+1258C>G (n.316+1258C>G) c.514+1258C>G (n.514+1258C>G) c.*107C>G (n.*107C>G) c.3622C>G (p.Leu1208Val) c.3592C>G (p.Leu1198Val) c.3718C>G (p.Leu1240Val) c.3007C>G (p.Leu1003Val) c.3597+719C>G (n.3597+719C>G) c.3547+1258C>G (n.3547+1258C>G) c.2944C>G (p.Leu982Val) c.2911C>G (p.Leu971Val) c.3124C>G (p.Leu1042Val) | |
X | g.53235064G>T | CA413141986 | IQSEC2 | c.3781C>A (p.Leu1261Ile) c.1453+719C>A c.962+719C>A c.316+1258C>A (n.316+1258C>A) c.514+1258C>A (n.514+1258C>A) c.*107C>A (n.*107C>A) c.3622C>A (p.Leu1208Ile) c.3592C>A (p.Leu1198Ile) c.3718C>A (p.Leu1240Ile) c.3007C>A (p.Leu1003Ile) c.3597+719C>A (n.3597+719C>A) c.3547+1258C>A (n.3547+1258C>A) c.2944C>A (p.Leu982Ile) c.2911C>A (p.Leu971Ile) c.3124C>A (p.Leu1042Ile) | |
X | g.53235065G>A | CA516673897 | IQSEC2 | c.3780C>T (p.Ser1260=) c.1453+718C>T c.962+718C>T c.316+1257C>T (n.316+1257C>T) c.514+1257C>T (n.514+1257C>T) c.*106C>T (n.*106C>T) c.3621C>T (p.Ser1207=) c.3591C>T (p.Ser1197=) c.3717C>T (p.Ser1239=) c.3006C>T (p.Ser1002=) c.3597+718C>T (n.3597+718C>T) c.3547+1257C>T (n.3547+1257C>T) c.2943C>T (p.Ser981=) c.2910C>T (p.Ser970=) c.3123C>T (p.Ser1041=) | ClinVar gnomAD v4 |
X | g.53235065G>C | CA516673898 | IQSEC2 | c.3780C>G (p.Ser1260=) c.1453+718C>G c.962+718C>G c.316+1257C>G (n.316+1257C>G) c.514+1257C>G (n.514+1257C>G) c.*106C>G (n.*106C>G) c.3621C>G (p.Ser1207=) c.3591C>G (p.Ser1197=) c.3717C>G (p.Ser1239=) c.3006C>G (p.Ser1002=) c.3597+718C>G (n.3597+718C>G) c.3547+1257C>G (n.3547+1257C>G) c.2943C>G (p.Ser981=) c.2910C>G (p.Ser970=) c.3123C>G (p.Ser1041=) | |
X | g.53235065G>T | CA516673899 | IQSEC2 | c.3780C>A (p.Ser1260=) c.1453+718C>A c.962+718C>A c.316+1257C>A (n.316+1257C>A) c.514+1257C>A (n.514+1257C>A) c.*106C>A (n.*106C>A) c.3621C>A (p.Ser1207=) c.3591C>A (p.Ser1197=) c.3717C>A (p.Ser1239=) c.3006C>A (p.Ser1002=) c.3597+718C>A (n.3597+718C>A) c.3547+1257C>A (n.3547+1257C>A) c.2943C>A (p.Ser981=) c.2910C>A (p.Ser970=) c.3123C>A (p.Ser1041=) | |
X | g.53235066G>A | CA413141991 | IQSEC2 | c.3779C>T (p.Ser1260Phe) c.1453+717C>T c.962+717C>T c.316+1256C>T (n.316+1256C>T) c.514+1256C>T (n.514+1256C>T) c.*105C>T (n.*105C>T) c.3620C>T (p.Ser1207Phe) c.3590C>T (p.Ser1197Phe) c.3716C>T (p.Ser1239Phe) c.3005C>T (p.Ser1002Phe) c.3597+717C>T (n.3597+717C>T) c.3547+1256C>T (n.3547+1256C>T) c.2942C>T (p.Ser981Phe) c.2909C>T (p.Ser970Phe) c.3122C>T (p.Ser1041Phe) | |
X | g.53235066G>C | CA413141997 | IQSEC2 | c.3779C>G (p.Ser1260Cys) c.1453+717C>G c.962+717C>G c.316+1256C>G (n.316+1256C>G) c.514+1256C>G (n.514+1256C>G) c.*105C>G (n.*105C>G) c.3620C>G (p.Ser1207Cys) c.3590C>G (p.Ser1197Cys) c.3716C>G (p.Ser1239Cys) c.3005C>G (p.Ser1002Cys) c.3597+717C>G (n.3597+717C>G) c.3547+1256C>G (n.3547+1256C>G) c.2942C>G (p.Ser981Cys) c.2909C>G (p.Ser970Cys) c.3122C>G (p.Ser1041Cys) | |
X | g.53235066G>T | CA413141994 | IQSEC2 | c.3779C>A (p.Ser1260Tyr) c.1453+717C>A c.962+717C>A c.316+1256C>A (n.316+1256C>A) c.514+1256C>A (n.514+1256C>A) c.*105C>A (n.*105C>A) c.3620C>A (p.Ser1207Tyr) c.3590C>A (p.Ser1197Tyr) c.3716C>A (p.Ser1239Tyr) c.3005C>A (p.Ser1002Tyr) c.3597+717C>A (n.3597+717C>A) c.3547+1256C>A (n.3547+1256C>A) c.2942C>A (p.Ser981Tyr) c.2909C>A (p.Ser970Tyr) c.3122C>A (p.Ser1041Tyr) | |
X | g.53235067A>C | CA413142001 | IQSEC2 | c.3778T>G (p.Ser1260Ala) c.1453+716T>G c.962+716T>G c.316+1255T>G (n.316+1255T>G) c.514+1255T>G (n.514+1255T>G) c.*104T>G (n.*104T>G) c.3619T>G (p.Ser1207Ala) c.3589T>G (p.Ser1197Ala) c.3715T>G (p.Ser1239Ala) c.3004T>G (p.Ser1002Ala) c.3597+716T>G (n.3597+716T>G) c.3547+1255T>G (n.3547+1255T>G) c.2941T>G (p.Ser981Ala) c.2908T>G (p.Ser970Ala) c.3121T>G (p.Ser1041Ala) | |
X | g.53235067A>G | CA413142004 | IQSEC2 | c.3778T>C (p.Ser1260Pro) c.1453+716T>C c.962+716T>C c.316+1255T>C (n.316+1255T>C) c.514+1255T>C (n.514+1255T>C) c.*104T>C (n.*104T>C) c.3619T>C (p.Ser1207Pro) c.3589T>C (p.Ser1197Pro) c.3715T>C (p.Ser1239Pro) c.3004T>C (p.Ser1002Pro) c.3597+716T>C (n.3597+716T>C) c.3547+1255T>C (n.3547+1255T>C) c.2941T>C (p.Ser981Pro) c.2908T>C (p.Ser970Pro) c.3121T>C (p.Ser1041Pro) | |
X | g.53235067A>T | CA413142007 | IQSEC2 | c.3778T>A (p.Ser1260Thr) c.1453+716T>A c.962+716T>A c.316+1255T>A (n.316+1255T>A) c.514+1255T>A (n.514+1255T>A) c.*104T>A (n.*104T>A) c.3619T>A (p.Ser1207Thr) c.3589T>A (p.Ser1197Thr) c.3715T>A (p.Ser1239Thr) c.3004T>A (p.Ser1002Thr) c.3597+716T>A (n.3597+716T>A) c.3547+1255T>A (n.3547+1255T>A) c.2941T>A (p.Ser981Thr) c.2908T>A (p.Ser970Thr) c.3121T>A (p.Ser1041Thr) | |
X | g.53235068G>A | CA516673904 | IQSEC2 | c.3777C>T (p.Gly1259=) c.1453+715C>T c.962+715C>T c.316+1254C>T (n.316+1254C>T) c.514+1254C>T (n.514+1254C>T) c.*103C>T (n.*103C>T) c.3618C>T (p.Gly1206=) c.3588C>T (p.Gly1196=) c.3714C>T (p.Gly1238=) c.3003C>T (p.Gly1001=) c.3597+715C>T (n.3597+715C>T) c.3547+1254C>T (n.3547+1254C>T) c.2940C>T (p.Gly980=) c.2907C>T (p.Gly969=) c.3120C>T (p.Gly1040=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235068G>C | CA516673905 | IQSEC2 | c.3777C>G (p.Gly1259=) c.1453+715C>G c.962+715C>G c.316+1254C>G (n.316+1254C>G) c.514+1254C>G (n.514+1254C>G) c.*103C>G (n.*103C>G) c.3618C>G (p.Gly1206=) c.3588C>G (p.Gly1196=) c.3714C>G (p.Gly1238=) c.3003C>G (p.Gly1001=) c.3597+715C>G (n.3597+715C>G) c.3547+1254C>G (n.3547+1254C>G) c.2940C>G (p.Gly980=) c.2907C>G (p.Gly969=) c.3120C>G (p.Gly1040=) | |
X | g.53235068G= | CA2429770684 | IQSEC2 | c.3777C= (p.Gly1259=) c.1453+715C= c.962+715C= c.316+1254C= (n.316+1254C=) c.514+1254C= (n.514+1254C=) c.*103C= (n.*103C=) c.3618C= (p.Gly1206=) c.3588C= (p.Gly1196=) c.3714C= (p.Gly1238=) c.3003C= (p.Gly1001=) c.3597+715C= (n.3597+715C=) c.3547+1254C= (n.3547+1254C=) c.2940C= (p.Gly980=) c.2907C= (p.Gly969=) c.3120C= (p.Gly1040=) | |
X | g.53235068G>T | CA516673906 | IQSEC2 | c.3777C>A (p.Gly1259=) c.1453+715C>A c.962+715C>A c.316+1254C>A (n.316+1254C>A) c.514+1254C>A (n.514+1254C>A) c.*103C>A (n.*103C>A) c.3618C>A (p.Gly1206=) c.3588C>A (p.Gly1196=) c.3714C>A (p.Gly1238=) c.3003C>A (p.Gly1001=) c.3597+715C>A (n.3597+715C>A) c.3547+1254C>A (n.3547+1254C>A) c.2940C>A (p.Gly980=) c.2907C>A (p.Gly969=) c.3120C>A (p.Gly1040=) | gnomAD v4 |
X | g.53235069C>A | CA413142012 | IQSEC2 | c.3776G>T (p.Gly1259Val) c.1453+714G>T c.962+714G>T c.316+1253G>T (n.316+1253G>T) c.514+1253G>T (n.514+1253G>T) c.*102G>T (n.*102G>T) c.3617G>T (p.Gly1206Val) c.3587G>T (p.Gly1196Val) c.3713G>T (p.Gly1238Val) c.3002G>T (p.Gly1001Val) c.3597+714G>T (n.3597+714G>T) c.3547+1253G>T (n.3547+1253G>T) c.2939G>T (p.Gly980Val) c.2906G>T (p.Gly969Val) c.3119G>T (p.Gly1040Val) | gnomAD v4 |
X | g.53235069C= | CA2429770685 | IQSEC2 | c.3776G= (p.Gly1259=) c.1453+714G= c.962+714G= c.316+1253G= (n.316+1253G=) c.514+1253G= (n.514+1253G=) c.*102G= (n.*102G=) c.3617G= (p.Gly1206=) c.3587G= (p.Gly1196=) c.3713G= (p.Gly1238=) c.3002G= (p.Gly1001=) c.3597+714G= (n.3597+714G=) c.3547+1253G= (n.3547+1253G=) c.2939G= (p.Gly980=) c.2906G= (p.Gly969=) c.3119G= (p.Gly1040=) | |
X | g.53235069C>G | CA209619 | IQSEC2 | c.3776G>C (p.Gly1259Ala) c.1453+714G>C c.962+714G>C c.316+1253G>C (n.316+1253G>C) c.514+1253G>C (n.514+1253G>C) c.*102G>C (n.*102G>C) c.3617G>C (p.Gly1206Ala) c.3587G>C (p.Gly1196Ala) c.3713G>C (p.Gly1238Ala) c.3002G>C (p.Gly1001Ala) c.3597+714G>C (n.3597+714G>C) c.3547+1253G>C (n.3547+1253G>C) c.2939G>C (p.Gly980Ala) c.2906G>C (p.Gly969Ala) c.3119G>C (p.Gly1040Ala) | ClinVar dbSNP gnomAD v4 |
X | g.53235069C>T | CA413142019 | IQSEC2 | c.3776G>A (p.Gly1259Asp) c.1453+714G>A c.962+714G>A c.316+1253G>A (n.316+1253G>A) c.514+1253G>A (n.514+1253G>A) c.*102G>A (n.*102G>A) c.3617G>A (p.Gly1206Asp) c.3587G>A (p.Gly1196Asp) c.3713G>A (p.Gly1238Asp) c.3002G>A (p.Gly1001Asp) c.3597+714G>A (n.3597+714G>A) c.3547+1253G>A (n.3547+1253G>A) c.2939G>A (p.Gly980Asp) c.2906G>A (p.Gly969Asp) c.3119G>A (p.Gly1040Asp) | |
X | g.53235070C>A | CA413142024 | IQSEC2 | c.3775G>T (p.Gly1259Cys) c.1453+713G>T c.962+713G>T c.316+1252G>T (n.316+1252G>T) c.514+1252G>T (n.514+1252G>T) c.*101G>T (n.*101G>T) c.3616G>T (p.Gly1206Cys) c.3586G>T (p.Gly1196Cys) c.3712G>T (p.Gly1238Cys) c.3001G>T (p.Gly1001Cys) c.3597+713G>T (n.3597+713G>T) c.3547+1252G>T (n.3547+1252G>T) c.2938G>T (p.Gly980Cys) c.2905G>T (p.Gly969Cys) c.3118G>T (p.Gly1040Cys) | |
X | g.53235070C>G | CA413142028 | IQSEC2 | c.3775G>C (p.Gly1259Arg) c.1453+713G>C c.962+713G>C c.316+1252G>C (n.316+1252G>C) c.514+1252G>C (n.514+1252G>C) c.*101G>C (n.*101G>C) c.3616G>C (p.Gly1206Arg) c.3586G>C (p.Gly1196Arg) c.3712G>C (p.Gly1238Arg) c.3001G>C (p.Gly1001Arg) c.3597+713G>C (n.3597+713G>C) c.3547+1252G>C (n.3547+1252G>C) c.2938G>C (p.Gly980Arg) c.2905G>C (p.Gly969Arg) c.3118G>C (p.Gly1040Arg) | |
X | g.53235070C>T | CA413142030 | IQSEC2 | c.3775G>A (p.Gly1259Ser) c.1453+713G>A c.962+713G>A c.316+1252G>A (n.316+1252G>A) c.514+1252G>A (n.514+1252G>A) c.*101G>A (n.*101G>A) c.3616G>A (p.Gly1206Ser) c.3586G>A (p.Gly1196Ser) c.3712G>A (p.Gly1238Ser) c.3001G>A (p.Gly1001Ser) c.3597+713G>A (n.3597+713G>A) c.3547+1252G>A (n.3547+1252G>A) c.2938G>A (p.Gly980Ser) c.2905G>A (p.Gly969Ser) c.3118G>A (p.Gly1040Ser) | |
X | g.53235071C>A | CA516673908 | IQSEC2 | c.3774G>T (p.Leu1258=) c.1453+712G>T c.962+712G>T c.316+1251G>T (n.316+1251G>T) c.514+1251G>T (n.514+1251G>T) c.*100G>T (n.*100G>T) c.3615G>T (p.Leu1205=) c.3585G>T (p.Leu1195=) c.3711G>T (p.Leu1237=) c.3000G>T (p.Leu1000=) c.3597+712G>T (n.3597+712G>T) c.3547+1251G>T (n.3547+1251G>T) c.2937G>T (p.Leu979=) c.2904G>T (p.Leu968=) c.3117G>T (p.Leu1039=) | gnomAD v4 |
X | g.53235071C>G | CA516673909 | IQSEC2 | c.3774G>C (p.Leu1258=) c.1453+712G>C c.962+712G>C c.316+1251G>C (n.316+1251G>C) c.514+1251G>C (n.514+1251G>C) c.*100G>C (n.*100G>C) c.3615G>C (p.Leu1205=) c.3585G>C (p.Leu1195=) c.3711G>C (p.Leu1237=) c.3000G>C (p.Leu1000=) c.3597+712G>C (n.3597+712G>C) c.3547+1251G>C (n.3547+1251G>C) c.2937G>C (p.Leu979=) c.2904G>C (p.Leu968=) c.3117G>C (p.Leu1039=) | |
X | g.53235071C>T | CA516673910 | IQSEC2 | c.3774G>A (p.Leu1258=) c.1453+712G>A c.962+712G>A c.316+1251G>A (n.316+1251G>A) c.514+1251G>A (n.514+1251G>A) c.*100G>A (n.*100G>A) c.3615G>A (p.Leu1205=) c.3585G>A (p.Leu1195=) c.3711G>A (p.Leu1237=) c.3000G>A (p.Leu1000=) c.3597+712G>A (n.3597+712G>A) c.3547+1251G>A (n.3547+1251G>A) c.2937G>A (p.Leu979=) c.2904G>A (p.Leu968=) c.3117G>A (p.Leu1039=) | |
X | g.53235072A>C | CA413142034 | IQSEC2 | c.3773T>G (p.Leu1258Arg) c.1453+711T>G c.962+711T>G c.316+1250T>G (n.316+1250T>G) c.514+1250T>G (n.514+1250T>G) c.*99T>G (n.*99T>G) c.3614T>G (p.Leu1205Arg) c.3584T>G (p.Leu1195Arg) c.3710T>G (p.Leu1237Arg) c.2999T>G (p.Leu1000Arg) c.3597+711T>G (n.3597+711T>G) c.3547+1250T>G (n.3547+1250T>G) c.2936T>G (p.Leu979Arg) c.2903T>G (p.Leu968Arg) c.3116T>G (p.Leu1039Arg) | |
X | g.53235072A>G | CA413142038 | IQSEC2 | c.3773T>C (p.Leu1258Pro) c.1453+711T>C c.962+711T>C c.316+1250T>C (n.316+1250T>C) c.514+1250T>C (n.514+1250T>C) c.*99T>C (n.*99T>C) c.3614T>C (p.Leu1205Pro) c.3584T>C (p.Leu1195Pro) c.3710T>C (p.Leu1237Pro) c.2999T>C (p.Leu1000Pro) c.3597+711T>C (n.3597+711T>C) c.3547+1250T>C (n.3547+1250T>C) c.2936T>C (p.Leu979Pro) c.2903T>C (p.Leu968Pro) c.3116T>C (p.Leu1039Pro) | |
X | g.53235072A>T | CA413142041 | IQSEC2 | c.3773T>A (p.Leu1258Gln) c.1453+711T>A c.962+711T>A c.316+1250T>A (n.316+1250T>A) c.514+1250T>A (n.514+1250T>A) c.*99T>A (n.*99T>A) c.3614T>A (p.Leu1205Gln) c.3584T>A (p.Leu1195Gln) c.3710T>A (p.Leu1237Gln) c.2999T>A (p.Leu1000Gln) c.3597+711T>A (n.3597+711T>A) c.3547+1250T>A (n.3547+1250T>A) c.2936T>A (p.Leu979Gln) c.2903T>A (p.Leu968Gln) c.3116T>A (p.Leu1039Gln) | |
X | g.53235073G>A | CA516673913 | IQSEC2 | c.3772C>T (p.Leu1258=) c.1453+710C>T c.962+710C>T c.316+1249C>T (n.316+1249C>T) c.514+1249C>T (n.514+1249C>T) c.*98C>T (n.*98C>T) c.3613C>T (p.Leu1205=) c.3583C>T (p.Leu1195=) c.3709C>T (p.Leu1237=) c.2998C>T (p.Leu1000=) c.3597+710C>T (n.3597+710C>T) c.3547+1249C>T (n.3547+1249C>T) c.2935C>T (p.Leu979=) c.2902C>T (p.Leu968=) c.3115C>T (p.Leu1039=) | |
X | g.53235073G>C | CA413142045 | IQSEC2 | c.3772C>G (p.Leu1258Val) c.1453+710C>G c.962+710C>G c.316+1249C>G (n.316+1249C>G) c.514+1249C>G (n.514+1249C>G) c.*98C>G (n.*98C>G) c.3613C>G (p.Leu1205Val) c.3583C>G (p.Leu1195Val) c.3709C>G (p.Leu1237Val) c.2998C>G (p.Leu1000Val) c.3597+710C>G (n.3597+710C>G) c.3547+1249C>G (n.3547+1249C>G) c.2935C>G (p.Leu979Val) c.2902C>G (p.Leu968Val) c.3115C>G (p.Leu1039Val) | |
X | g.53235073G>T | CA413142048 | IQSEC2 | c.3772C>A (p.Leu1258Met) c.1453+710C>A c.962+710C>A c.316+1249C>A (n.316+1249C>A) c.514+1249C>A (n.514+1249C>A) c.*98C>A (n.*98C>A) c.3613C>A (p.Leu1205Met) c.3583C>A (p.Leu1195Met) c.3709C>A (p.Leu1237Met) c.2998C>A (p.Leu1000Met) c.3597+710C>A (n.3597+710C>A) c.3547+1249C>A (n.3547+1249C>A) c.2935C>A (p.Leu979Met) c.2902C>A (p.Leu968Met) c.3115C>A (p.Leu1039Met) | |
X | g.53235074del | CA2580101218 | IQSEC2 | c.3772del (p.Leu1258TrpfsTer?) c.1453+710del c.962+710del c.316+1249del (n.316+1249del) c.514+1249del (n.514+1249del) c.*98del (n.*98del) c.3613del (p.Leu1205TrpfsTer?) c.3583del (p.Leu1195TrpfsTer?) c.3709del (p.Leu1237TrpfsTer?) c.2998del (p.Leu1000TrpfsTer?) c.3597+710del (n.3597+710del) c.3547+1249del (n.3547+1249del) c.2935del (p.Leu979TrpfsTer?) c.2902del (p.Leu968TrpfsTer?) c.3115del (p.Leu1039TrpfsTer?) | ClinVar |
X | g.53235074G>A | CA516673916 | IQSEC2 | c.3771C>T (p.Phe1257=) c.1453+709C>T c.962+709C>T c.316+1248C>T (n.316+1248C>T) c.514+1248C>T (n.514+1248C>T) c.*97C>T (n.*97C>T) c.3612C>T (p.Phe1204=) c.3582C>T (p.Phe1194=) c.3708C>T (p.Phe1236=) c.2997C>T (p.Phe999=) c.3597+709C>T (n.3597+709C>T) c.3547+1248C>T (n.3547+1248C>T) c.2934C>T (p.Phe978=) c.2901C>T (p.Phe967=) c.3114C>T (p.Phe1038=) | gnomAD v4 |
X | g.53235074G>C | CA413142051 | IQSEC2 | c.3771C>G (p.Phe1257Leu) c.1453+709C>G c.962+709C>G c.316+1248C>G (n.316+1248C>G) c.514+1248C>G (n.514+1248C>G) c.*97C>G (n.*97C>G) c.3612C>G (p.Phe1204Leu) c.3582C>G (p.Phe1194Leu) c.3708C>G (p.Phe1236Leu) c.2997C>G (p.Phe999Leu) c.3597+709C>G (n.3597+709C>G) c.3547+1248C>G (n.3547+1248C>G) c.2934C>G (p.Phe978Leu) c.2901C>G (p.Phe967Leu) c.3114C>G (p.Phe1038Leu) | |
X | g.53235074G>T | CA413142054 | IQSEC2 | c.3771C>A (p.Phe1257Leu) c.1453+709C>A c.962+709C>A c.316+1248C>A (n.316+1248C>A) c.514+1248C>A (n.514+1248C>A) c.*97C>A (n.*97C>A) c.3612C>A (p.Phe1204Leu) c.3582C>A (p.Phe1194Leu) c.3708C>A (p.Phe1236Leu) c.2997C>A (p.Phe999Leu) c.3597+709C>A (n.3597+709C>A) c.3547+1248C>A (n.3547+1248C>A) c.2934C>A (p.Phe978Leu) c.2901C>A (p.Phe967Leu) c.3114C>A (p.Phe1038Leu) | |
X | g.53235075A>C | CA413142058 | IQSEC2 | c.3770T>G (p.Phe1257Cys) c.1453+708T>G c.962+708T>G c.316+1247T>G (n.316+1247T>G) c.514+1247T>G (n.514+1247T>G) c.*96T>G (n.*96T>G) c.3611T>G (p.Phe1204Cys) c.3581T>G (p.Phe1194Cys) c.3707T>G (p.Phe1236Cys) c.2996T>G (p.Phe999Cys) c.3597+708T>G (n.3597+708T>G) c.3547+1247T>G (n.3547+1247T>G) c.2933T>G (p.Phe978Cys) c.2900T>G (p.Phe967Cys) c.3113T>G (p.Phe1038Cys) | |
X | g.53235075A>G | CA413142061 | IQSEC2 | c.3770T>C (p.Phe1257Ser) c.1453+708T>C c.962+708T>C c.316+1247T>C (n.316+1247T>C) c.514+1247T>C (n.514+1247T>C) c.*96T>C (n.*96T>C) c.3611T>C (p.Phe1204Ser) c.3581T>C (p.Phe1194Ser) c.3707T>C (p.Phe1236Ser) c.2996T>C (p.Phe999Ser) c.3597+708T>C (n.3597+708T>C) c.3547+1247T>C (n.3547+1247T>C) c.2933T>C (p.Phe978Ser) c.2900T>C (p.Phe967Ser) c.3113T>C (p.Phe1038Ser) | |
X | g.53235075A>T | CA413142064 | IQSEC2 | c.3770T>A (p.Phe1257Tyr) c.1453+708T>A c.962+708T>A c.316+1247T>A (n.316+1247T>A) c.514+1247T>A (n.514+1247T>A) c.*96T>A (n.*96T>A) c.3611T>A (p.Phe1204Tyr) c.3581T>A (p.Phe1194Tyr) c.3707T>A (p.Phe1236Tyr) c.2996T>A (p.Phe999Tyr) c.3597+708T>A (n.3597+708T>A) c.3547+1247T>A (n.3547+1247T>A) c.2933T>A (p.Phe978Tyr) c.2900T>A (p.Phe967Tyr) c.3113T>A (p.Phe1038Tyr) | |
X | g.53235076A>C | CA413142068 | IQSEC2 | c.3769T>G (p.Phe1257Val) c.1453+707T>G c.962+707T>G c.316+1246T>G (n.316+1246T>G) c.514+1246T>G (n.514+1246T>G) c.*95T>G (n.*95T>G) c.3610T>G (p.Phe1204Val) c.3580T>G (p.Phe1194Val) c.3706T>G (p.Phe1236Val) c.2995T>G (p.Phe999Val) c.3597+707T>G (n.3597+707T>G) c.3547+1246T>G (n.3547+1246T>G) c.2932T>G (p.Phe978Val) c.2899T>G (p.Phe967Val) c.3112T>G (p.Phe1038Val) | |
X | g.53235076A>G | CA413142072 | IQSEC2 | c.3769T>C (p.Phe1257Leu) c.1453+707T>C c.962+707T>C c.316+1246T>C (n.316+1246T>C) c.514+1246T>C (n.514+1246T>C) c.*95T>C (n.*95T>C) c.3610T>C (p.Phe1204Leu) c.3580T>C (p.Phe1194Leu) c.3706T>C (p.Phe1236Leu) c.2995T>C (p.Phe999Leu) c.3597+707T>C (n.3597+707T>C) c.3547+1246T>C (n.3547+1246T>C) c.2932T>C (p.Phe978Leu) c.2899T>C (p.Phe967Leu) c.3112T>C (p.Phe1038Leu) | |
X | g.53235076A>T | CA413142076 | IQSEC2 | c.3769T>A (p.Phe1257Ile) c.1453+707T>A c.962+707T>A c.316+1246T>A (n.316+1246T>A) c.514+1246T>A (n.514+1246T>A) c.*95T>A (n.*95T>A) c.3610T>A (p.Phe1204Ile) c.3580T>A (p.Phe1194Ile) c.3706T>A (p.Phe1236Ile) c.2995T>A (p.Phe999Ile) c.3597+707T>A (n.3597+707T>A) c.3547+1246T>A (n.3547+1246T>A) c.2932T>A (p.Phe978Ile) c.2899T>A (p.Phe967Ile) c.3112T>A (p.Phe1038Ile) | |
X | g.53235077G>A | CA516673923 | IQSEC2 | c.3768C>T (p.Ser1256=) c.1453+706C>T c.962+706C>T c.316+1245C>T (n.316+1245C>T) c.514+1245C>T (n.514+1245C>T) c.*94C>T (n.*94C>T) c.3609C>T (p.Ser1203=) c.3579C>T (p.Ser1193=) c.3705C>T (p.Ser1235=) c.2994C>T (p.Ser998=) c.3597+706C>T (n.3597+706C>T) c.3547+1245C>T (n.3547+1245C>T) c.2931C>T (p.Ser977=) c.2898C>T (p.Ser966=) c.3111C>T (p.Ser1037=) | |
X | g.53235077G>C | CA516673924 | IQSEC2 | c.3768C>G (p.Ser1256=) c.1453+706C>G c.962+706C>G c.316+1245C>G (n.316+1245C>G) c.514+1245C>G (n.514+1245C>G) c.*94C>G (n.*94C>G) c.3609C>G (p.Ser1203=) c.3579C>G (p.Ser1193=) c.3705C>G (p.Ser1235=) c.2994C>G (p.Ser998=) c.3597+706C>G (n.3597+706C>G) c.3547+1245C>G (n.3547+1245C>G) c.2931C>G (p.Ser977=) c.2898C>G (p.Ser966=) c.3111C>G (p.Ser1037=) | |
X | g.53235077G>T | CA516673925 | IQSEC2 | c.3768C>A (p.Ser1256=) c.1453+706C>A c.962+706C>A c.316+1245C>A (n.316+1245C>A) c.514+1245C>A (n.514+1245C>A) c.*94C>A (n.*94C>A) c.3609C>A (p.Ser1203=) c.3579C>A (p.Ser1193=) c.3705C>A (p.Ser1235=) c.2994C>A (p.Ser998=) c.3597+706C>A (n.3597+706C>A) c.3547+1245C>A (n.3547+1245C>A) c.2931C>A (p.Ser977=) c.2898C>A (p.Ser966=) c.3111C>A (p.Ser1037=) | |
X | g.53235078G>A | CA413142080 | IQSEC2 | c.3767C>T (p.Ser1256Phe) c.1453+705C>T c.962+705C>T c.316+1244C>T (n.316+1244C>T) c.514+1244C>T (n.514+1244C>T) c.*93C>T (n.*93C>T) c.3608C>T (p.Ser1203Phe) c.3578C>T (p.Ser1193Phe) c.3704C>T (p.Ser1235Phe) c.2993C>T (p.Ser998Phe) c.3597+705C>T (n.3597+705C>T) c.3547+1244C>T (n.3547+1244C>T) c.2930C>T (p.Ser977Phe) c.2897C>T (p.Ser966Phe) c.3110C>T (p.Ser1037Phe) | dbSNP |
X | g.53235078G>C | CA413142083 | IQSEC2 | c.3767C>G (p.Ser1256Cys) c.1453+705C>G c.962+705C>G c.316+1244C>G (n.316+1244C>G) c.514+1244C>G (n.514+1244C>G) c.*93C>G (n.*93C>G) c.3608C>G (p.Ser1203Cys) c.3578C>G (p.Ser1193Cys) c.3704C>G (p.Ser1235Cys) c.2993C>G (p.Ser998Cys) c.3597+705C>G (n.3597+705C>G) c.3547+1244C>G (n.3547+1244C>G) c.2930C>G (p.Ser977Cys) c.2897C>G (p.Ser966Cys) c.3110C>G (p.Ser1037Cys) | |
X | g.53235078G= | CA2429770686 | IQSEC2 | c.3767C= (p.Ser1256=) c.1453+705C= c.962+705C= c.316+1244C= (n.316+1244C=) c.514+1244C= (n.514+1244C=) c.*93C= (n.*93C=) c.3608C= (p.Ser1203=) c.3578C= (p.Ser1193=) c.3704C= (p.Ser1235=) c.2993C= (p.Ser998=) c.3597+705C= (n.3597+705C=) c.3547+1244C= (n.3547+1244C=) c.2930C= (p.Ser977=) c.2897C= (p.Ser966=) c.3110C= (p.Ser1037=) | |
X | g.53235078G>T | CA413142085 | IQSEC2 | c.3767C>A (p.Ser1256Tyr) c.1453+705C>A c.962+705C>A c.316+1244C>A (n.316+1244C>A) c.514+1244C>A (n.514+1244C>A) c.*93C>A (n.*93C>A) c.3608C>A (p.Ser1203Tyr) c.3578C>A (p.Ser1193Tyr) c.3704C>A (p.Ser1235Tyr) c.2993C>A (p.Ser998Tyr) c.3597+705C>A (n.3597+705C>A) c.3547+1244C>A (n.3547+1244C>A) c.2930C>A (p.Ser977Tyr) c.2897C>A (p.Ser966Tyr) c.3110C>A (p.Ser1037Tyr) | |
X | g.53235079A>C | CA413142088 | IQSEC2 | c.3766T>G (p.Ser1256Ala) c.1453+704T>G c.962+704T>G c.316+1243T>G (n.316+1243T>G) c.514+1243T>G (n.514+1243T>G) c.*92T>G (n.*92T>G) c.3607T>G (p.Ser1203Ala) c.3577T>G (p.Ser1193Ala) c.3703T>G (p.Ser1235Ala) c.2992T>G (p.Ser998Ala) c.3597+704T>G (n.3597+704T>G) c.3547+1243T>G (n.3547+1243T>G) c.2929T>G (p.Ser977Ala) c.2896T>G (p.Ser966Ala) c.3109T>G (p.Ser1037Ala) | |
X | g.53235079A>G | CA413142090 | IQSEC2 | c.3766T>C (p.Ser1256Pro) c.1453+704T>C c.962+704T>C c.316+1243T>C (n.316+1243T>C) c.514+1243T>C (n.514+1243T>C) c.*92T>C (n.*92T>C) c.3607T>C (p.Ser1203Pro) c.3577T>C (p.Ser1193Pro) c.3703T>C (p.Ser1235Pro) c.2992T>C (p.Ser998Pro) c.3597+704T>C (n.3597+704T>C) c.3547+1243T>C (n.3547+1243T>C) c.2929T>C (p.Ser977Pro) c.2896T>C (p.Ser966Pro) c.3109T>C (p.Ser1037Pro) | |
X | g.53235079A>T | CA413142093 | IQSEC2 | c.3766T>A (p.Ser1256Thr) c.1453+704T>A c.962+704T>A c.316+1243T>A (n.316+1243T>A) c.514+1243T>A (n.514+1243T>A) c.*92T>A (n.*92T>A) c.3607T>A (p.Ser1203Thr) c.3577T>A (p.Ser1193Thr) c.3703T>A (p.Ser1235Thr) c.2992T>A (p.Ser998Thr) c.3597+704T>A (n.3597+704T>A) c.3547+1243T>A (n.3547+1243T>A) c.2929T>A (p.Ser977Thr) c.2896T>A (p.Ser966Thr) c.3109T>A (p.Ser1037Thr) | |
X | g.53235080T>A | CA516673929 | IQSEC2 | c.3765A>T (p.Ser1255=) c.1453+703A>T c.962+703A>T c.316+1242A>T (n.316+1242A>T) c.514+1242A>T (n.514+1242A>T) c.*91A>T (n.*91A>T) c.3606A>T (p.Ser1202=) c.3576A>T (p.Ser1192=) c.3702A>T (p.Ser1234=) c.2991A>T (p.Ser997=) c.3597+703A>T (n.3597+703A>T) c.3547+1242A>T (n.3547+1242A>T) c.2928A>T (p.Ser976=) c.2895A>T (p.Ser965=) c.3108A>T (p.Ser1036=) | |
X | g.53235080T>C | CA516673930 | IQSEC2 | c.3765A>G (p.Ser1255=) c.1453+703A>G c.962+703A>G c.316+1242A>G (n.316+1242A>G) c.514+1242A>G (n.514+1242A>G) c.*91A>G (n.*91A>G) c.3606A>G (p.Ser1202=) c.3576A>G (p.Ser1192=) c.3702A>G (p.Ser1234=) c.2991A>G (p.Ser997=) c.3597+703A>G (n.3597+703A>G) c.3547+1242A>G (n.3547+1242A>G) c.2928A>G (p.Ser976=) c.2895A>G (p.Ser965=) c.3108A>G (p.Ser1036=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235080T>G | CA516673928 | IQSEC2 | c.3765A>C (p.Ser1255=) c.1453+703A>C c.962+703A>C c.316+1242A>C (n.316+1242A>C) c.514+1242A>C (n.514+1242A>C) c.*91A>C (n.*91A>C) c.3606A>C (p.Ser1202=) c.3576A>C (p.Ser1192=) c.3702A>C (p.Ser1234=) c.2991A>C (p.Ser997=) c.3597+703A>C (n.3597+703A>C) c.3547+1242A>C (n.3547+1242A>C) c.2928A>C (p.Ser976=) c.2895A>C (p.Ser965=) c.3108A>C (p.Ser1036=) | |
X | g.53235080T= | CA2429770687 | IQSEC2 | c.3765A= (p.Ser1255=) c.1453+703A= c.962+703A= c.316+1242A= (n.316+1242A=) c.514+1242A= (n.514+1242A=) c.*91A= (n.*91A=) c.3606A= (p.Ser1202=) c.3576A= (p.Ser1192=) c.3702A= (p.Ser1234=) c.2991A= (p.Ser997=) c.3597+703A= (n.3597+703A=) c.3547+1242A= (n.3547+1242A=) c.2928A= (p.Ser976=) c.2895A= (p.Ser965=) c.3108A= (p.Ser1036=) | |
X | g.53235081G>A | CA413142101 | IQSEC2 | c.3764C>T (p.Ser1255Leu) c.1453+702C>T c.962+702C>T c.316+1241C>T (n.316+1241C>T) c.514+1241C>T (n.514+1241C>T) c.*90C>T (n.*90C>T) c.3605C>T (p.Ser1202Leu) c.3575C>T (p.Ser1192Leu) c.3701C>T (p.Ser1234Leu) c.2990C>T (p.Ser997Leu) c.3597+702C>T (n.3597+702C>T) c.3547+1241C>T (n.3547+1241C>T) c.2927C>T (p.Ser976Leu) c.2894C>T (p.Ser965Leu) c.3107C>T (p.Ser1036Leu) | |
X | g.53235081G>C | CA413142096 | IQSEC2 | c.3764C>G (p.Ser1255Ter) c.1453+702C>G c.962+702C>G c.316+1241C>G (n.316+1241C>G) c.514+1241C>G (n.514+1241C>G) c.*90C>G (n.*90C>G) c.3605C>G (p.Ser1202Ter) c.3575C>G (p.Ser1192Ter) c.3701C>G (p.Ser1234Ter) c.2990C>G (p.Ser997Ter) c.3597+702C>G (n.3597+702C>G) c.3547+1241C>G (n.3547+1241C>G) c.2927C>G (p.Ser976Ter) c.2894C>G (p.Ser965Ter) c.3107C>G (p.Ser1036Ter) | |
X | g.53235081G>T | CA413142099 | IQSEC2 | c.3764C>A (p.Ser1255Ter) c.1453+702C>A c.962+702C>A c.316+1241C>A (n.316+1241C>A) c.514+1241C>A (n.514+1241C>A) c.*90C>A (n.*90C>A) c.3605C>A (p.Ser1202Ter) c.3575C>A (p.Ser1192Ter) c.3701C>A (p.Ser1234Ter) c.2990C>A (p.Ser997Ter) c.3597+702C>A (n.3597+702C>A) c.3547+1241C>A (n.3547+1241C>A) c.2927C>A (p.Ser976Ter) c.2894C>A (p.Ser965Ter) c.3107C>A (p.Ser1036Ter) | |
X | g.53235082A>C | CA413142105 | IQSEC2 | c.3763T>G (p.Ser1255Ala) c.1453+701T>G c.962+701T>G c.316+1240T>G (n.316+1240T>G) c.514+1240T>G (n.514+1240T>G) c.*89T>G (n.*89T>G) c.3604T>G (p.Ser1202Ala) c.3574T>G (p.Ser1192Ala) c.3700T>G (p.Ser1234Ala) c.2989T>G (p.Ser997Ala) c.3597+701T>G (n.3597+701T>G) c.3547+1240T>G (n.3547+1240T>G) c.2926T>G (p.Ser976Ala) c.2893T>G (p.Ser965Ala) c.3106T>G (p.Ser1036Ala) | |
X | g.53235082A>G | CA413142107 | IQSEC2 | c.3763T>C (p.Ser1255Pro) c.1453+701T>C c.962+701T>C c.316+1240T>C (n.316+1240T>C) c.514+1240T>C (n.514+1240T>C) c.*89T>C (n.*89T>C) c.3604T>C (p.Ser1202Pro) c.3574T>C (p.Ser1192Pro) c.3700T>C (p.Ser1234Pro) c.2989T>C (p.Ser997Pro) c.3597+701T>C (n.3597+701T>C) c.3547+1240T>C (n.3547+1240T>C) c.2926T>C (p.Ser976Pro) c.2893T>C (p.Ser965Pro) c.3106T>C (p.Ser1036Pro) | |
X | g.53235082A>T | CA413142109 | IQSEC2 | c.3763T>A (p.Ser1255Thr) c.1453+701T>A c.962+701T>A c.316+1240T>A (n.316+1240T>A) c.514+1240T>A (n.514+1240T>A) c.*89T>A (n.*89T>A) c.3604T>A (p.Ser1202Thr) c.3574T>A (p.Ser1192Thr) c.3700T>A (p.Ser1234Thr) c.2989T>A (p.Ser997Thr) c.3597+701T>A (n.3597+701T>A) c.3547+1240T>A (n.3547+1240T>A) c.2926T>A (p.Ser976Thr) c.2893T>A (p.Ser965Thr) c.3106T>A (p.Ser1036Thr) | |
X | g.53235083G>A | CA516673936 | IQSEC2 | c.3762C>T (p.Ser1254=) c.1453+700C>T c.962+700C>T c.316+1239C>T (n.316+1239C>T) c.514+1239C>T (n.514+1239C>T) c.*88C>T (n.*88C>T) c.3603C>T (p.Ser1201=) c.3573C>T (p.Ser1191=) c.3699C>T (p.Ser1233=) c.2988C>T (p.Ser996=) c.3597+700C>T (n.3597+700C>T) c.3547+1239C>T (n.3547+1239C>T) c.2925C>T (p.Ser975=) c.2892C>T (p.Ser964=) c.3105C>T (p.Ser1035=) | |
X | g.53235083G>C | CA516673937 | IQSEC2 | c.3762C>G (p.Ser1254=) c.1453+700C>G c.962+700C>G c.316+1239C>G (n.316+1239C>G) c.514+1239C>G (n.514+1239C>G) c.*88C>G (n.*88C>G) c.3603C>G (p.Ser1201=) c.3573C>G (p.Ser1191=) c.3699C>G (p.Ser1233=) c.2988C>G (p.Ser996=) c.3597+700C>G (n.3597+700C>G) c.3547+1239C>G (n.3547+1239C>G) c.2925C>G (p.Ser975=) c.2892C>G (p.Ser964=) c.3105C>G (p.Ser1035=) | |
X | g.53235083G>T | CA516673938 | IQSEC2 | c.3762C>A (p.Ser1254=) c.1453+700C>A c.962+700C>A c.316+1239C>A (n.316+1239C>A) c.514+1239C>A (n.514+1239C>A) c.*88C>A (n.*88C>A) c.3603C>A (p.Ser1201=) c.3573C>A (p.Ser1191=) c.3699C>A (p.Ser1233=) c.2988C>A (p.Ser996=) c.3597+700C>A (n.3597+700C>A) c.3547+1239C>A (n.3547+1239C>A) c.2925C>A (p.Ser975=) c.2892C>A (p.Ser964=) c.3105C>A (p.Ser1035=) | gnomAD v4 |
X | g.53235084G>A | CA413142111 | IQSEC2 | c.3761C>T (p.Ser1254Phe) c.1453+699C>T c.962+699C>T c.316+1238C>T (n.316+1238C>T) c.514+1238C>T (n.514+1238C>T) c.*87C>T (n.*87C>T) c.3602C>T (p.Ser1201Phe) c.3572C>T (p.Ser1191Phe) c.3698C>T (p.Ser1233Phe) c.2987C>T (p.Ser996Phe) c.3597+699C>T (n.3597+699C>T) c.3547+1238C>T (n.3547+1238C>T) c.2924C>T (p.Ser975Phe) c.2891C>T (p.Ser964Phe) c.3104C>T (p.Ser1035Phe) | ClinVar dbSNP |
X | g.53235084G>C | CA413142114 | IQSEC2 | c.3761C>G (p.Ser1254Cys) c.1453+699C>G c.962+699C>G c.316+1238C>G (n.316+1238C>G) c.514+1238C>G (n.514+1238C>G) c.*87C>G (n.*87C>G) c.3602C>G (p.Ser1201Cys) c.3572C>G (p.Ser1191Cys) c.3698C>G (p.Ser1233Cys) c.2987C>G (p.Ser996Cys) c.3597+699C>G (n.3597+699C>G) c.3547+1238C>G (n.3547+1238C>G) c.2924C>G (p.Ser975Cys) c.2891C>G (p.Ser964Cys) c.3104C>G (p.Ser1035Cys) | |
X | g.53235084G>T | CA413142116 | IQSEC2 | c.3761C>A (p.Ser1254Tyr) c.1453+699C>A c.962+699C>A c.316+1238C>A (n.316+1238C>A) c.514+1238C>A (n.514+1238C>A) c.*87C>A (n.*87C>A) c.3602C>A (p.Ser1201Tyr) c.3572C>A (p.Ser1191Tyr) c.3698C>A (p.Ser1233Tyr) c.2987C>A (p.Ser996Tyr) c.3597+699C>A (n.3597+699C>A) c.3547+1238C>A (n.3547+1238C>A) c.2924C>A (p.Ser975Tyr) c.2891C>A (p.Ser964Tyr) c.3104C>A (p.Ser1035Tyr) | |
X | g.53235085A= | CA2429770688 | IQSEC2 | c.3760T= (p.Ser1254=) c.1453+698T= c.962+698T= c.316+1237T= (n.316+1237T=) c.514+1237T= (n.514+1237T=) c.*86T= (n.*86T=) c.3601T= (p.Ser1201=) c.3571T= (p.Ser1191=) c.3697T= (p.Ser1233=) c.2986T= (p.Ser996=) c.3597+698T= (n.3597+698T=) c.3547+1237T= (n.3547+1237T=) c.2923T= (p.Ser975=) c.2890T= (p.Ser964=) c.3103T= (p.Ser1035=) | |
X | g.53235085A>C | CA413142119 | IQSEC2 | c.3760T>G (p.Ser1254Ala) c.1453+698T>G c.962+698T>G c.316+1237T>G (n.316+1237T>G) c.514+1237T>G (n.514+1237T>G) c.*86T>G (n.*86T>G) c.3601T>G (p.Ser1201Ala) c.3571T>G (p.Ser1191Ala) c.3697T>G (p.Ser1233Ala) c.2986T>G (p.Ser996Ala) c.3597+698T>G (n.3597+698T>G) c.3547+1237T>G (n.3547+1237T>G) c.2923T>G (p.Ser975Ala) c.2890T>G (p.Ser964Ala) c.3103T>G (p.Ser1035Ala) | |
X | g.53235085A>G | CA413142121 | IQSEC2 | c.3760T>C (p.Ser1254Pro) c.1453+698T>C c.962+698T>C c.316+1237T>C (n.316+1237T>C) c.514+1237T>C (n.514+1237T>C) c.*86T>C (n.*86T>C) c.3601T>C (p.Ser1201Pro) c.3571T>C (p.Ser1191Pro) c.3697T>C (p.Ser1233Pro) c.2986T>C (p.Ser996Pro) c.3597+698T>C (n.3597+698T>C) c.3547+1237T>C (n.3547+1237T>C) c.2923T>C (p.Ser975Pro) c.2890T>C (p.Ser964Pro) c.3103T>C (p.Ser1035Pro) | dbSNP |
X | g.53235085A>T | CA413142123 | IQSEC2 | c.3760T>A (p.Ser1254Thr) c.1453+698T>A c.962+698T>A c.316+1237T>A (n.316+1237T>A) c.514+1237T>A (n.514+1237T>A) c.*86T>A (n.*86T>A) c.3601T>A (p.Ser1201Thr) c.3571T>A (p.Ser1191Thr) c.3697T>A (p.Ser1233Thr) c.2986T>A (p.Ser996Thr) c.3597+698T>A (n.3597+698T>A) c.3547+1237T>A (n.3547+1237T>A) c.2923T>A (p.Ser975Thr) c.2890T>A (p.Ser964Thr) c.3103T>A (p.Ser1035Thr) | |
X | g.53235086G>A | CA516673944 | IQSEC2 | c.3759C>T (p.Asn1253=) c.1453+697C>T c.962+697C>T c.316+1236C>T (n.316+1236C>T) c.514+1236C>T (n.514+1236C>T) c.*85C>T (n.*85C>T) c.3600C>T (p.Asn1200=) c.3570C>T (p.Asn1190=) c.3696C>T (p.Asn1232=) c.2985C>T (p.Asn995=) c.3597+697C>T (n.3597+697C>T) c.3547+1236C>T (n.3547+1236C>T) c.2922C>T (p.Asn974=) c.2889C>T (p.Asn963=) c.3102C>T (p.Asn1034=) | |
X | g.53235086G>C | CA413142126 | IQSEC2 | c.3759C>G (p.Asn1253Lys) c.1453+697C>G c.962+697C>G c.316+1236C>G (n.316+1236C>G) c.514+1236C>G (n.514+1236C>G) c.*85C>G (n.*85C>G) c.3600C>G (p.Asn1200Lys) c.3570C>G (p.Asn1190Lys) c.3696C>G (p.Asn1232Lys) c.2985C>G (p.Asn995Lys) c.3597+697C>G (n.3597+697C>G) c.3547+1236C>G (n.3547+1236C>G) c.2922C>G (p.Asn974Lys) c.2889C>G (p.Asn963Lys) c.3102C>G (p.Asn1034Lys) | |
X | g.53235086G>T | CA413142128 | IQSEC2 | c.3759C>A (p.Asn1253Lys) c.1453+697C>A c.962+697C>A c.316+1236C>A (n.316+1236C>A) c.514+1236C>A (n.514+1236C>A) c.*85C>A (n.*85C>A) c.3600C>A (p.Asn1200Lys) c.3570C>A (p.Asn1190Lys) c.3696C>A (p.Asn1232Lys) c.2985C>A (p.Asn995Lys) c.3597+697C>A (n.3597+697C>A) c.3547+1236C>A (n.3547+1236C>A) c.2922C>A (p.Asn974Lys) c.2889C>A (p.Asn963Lys) c.3102C>A (p.Asn1034Lys) | |
X | g.53235087T>A | CA413142135 | IQSEC2 | c.3758A>T (p.Asn1253Ile) c.1453+696A>T c.962+696A>T c.316+1235A>T (n.316+1235A>T) c.514+1235A>T (n.514+1235A>T) c.*84A>T (n.*84A>T) c.3599A>T (p.Asn1200Ile) c.3569A>T (p.Asn1190Ile) c.3695A>T (p.Asn1232Ile) c.2984A>T (p.Asn995Ile) c.3597+696A>T (n.3597+696A>T) c.3547+1235A>T (n.3547+1235A>T) c.2921A>T (p.Asn974Ile) c.2888A>T (p.Asn963Ile) c.3101A>T (p.Asn1034Ile) | |
X | g.53235087T>C | CA413142132 | IQSEC2 | c.3758A>G (p.Asn1253Ser) c.1453+696A>G c.962+696A>G c.316+1235A>G (n.316+1235A>G) c.514+1235A>G (n.514+1235A>G) c.*84A>G (n.*84A>G) c.3599A>G (p.Asn1200Ser) c.3569A>G (p.Asn1190Ser) c.3695A>G (p.Asn1232Ser) c.2984A>G (p.Asn995Ser) c.3597+696A>G (n.3597+696A>G) c.3547+1235A>G (n.3547+1235A>G) c.2921A>G (p.Asn974Ser) c.2888A>G (p.Asn963Ser) c.3101A>G (p.Asn1034Ser) | ClinVar |
X | g.53235087T>G | CA413142130 | IQSEC2 | c.3758A>C (p.Asn1253Thr) c.1453+696A>C c.962+696A>C c.316+1235A>C (n.316+1235A>C) c.514+1235A>C (n.514+1235A>C) c.*84A>C (n.*84A>C) c.3599A>C (p.Asn1200Thr) c.3569A>C (p.Asn1190Thr) c.3695A>C (p.Asn1232Thr) c.2984A>C (p.Asn995Thr) c.3597+696A>C (n.3597+696A>C) c.3547+1235A>C (n.3547+1235A>C) c.2921A>C (p.Asn974Thr) c.2888A>C (p.Asn963Thr) c.3101A>C (p.Asn1034Thr) | gnomAD v3 gnomAD v4 |
X | g.53235088T>A | CA413142137 | IQSEC2 | c.3757A>T (p.Asn1253Tyr) c.1453+695A>T c.962+695A>T c.316+1234A>T (n.316+1234A>T) c.514+1234A>T (n.514+1234A>T) c.*83A>T (n.*83A>T) c.3598A>T (p.Asn1200Tyr) c.3568A>T (p.Asn1190Tyr) c.3694A>T (p.Asn1232Tyr) c.2983A>T (p.Asn995Tyr) c.3597+695A>T (n.3597+695A>T) c.3547+1234A>T (n.3547+1234A>T) c.2920A>T (p.Asn974Tyr) c.2887A>T (p.Asn963Tyr) c.3100A>T (p.Asn1034Tyr) | |
X | g.53235088T>C | CA413142140 | IQSEC2 | c.3757A>G (p.Asn1253Asp) c.1453+695A>G c.962+695A>G c.316+1234A>G (n.316+1234A>G) c.514+1234A>G (n.514+1234A>G) c.*83A>G (n.*83A>G) c.3598A>G (p.Asn1200Asp) c.3568A>G (p.Asn1190Asp) c.3694A>G (p.Asn1232Asp) c.2983A>G (p.Asn995Asp) c.3597+695A>G (n.3597+695A>G) c.3547+1234A>G (n.3547+1234A>G) c.2920A>G (p.Asn974Asp) c.2887A>G (p.Asn963Asp) c.3100A>G (p.Asn1034Asp) | |
X | g.53235088T>G | CA413142142 | IQSEC2 | c.3757A>C (p.Asn1253His) c.1453+695A>C c.962+695A>C c.316+1234A>C (n.316+1234A>C) c.514+1234A>C (n.514+1234A>C) c.*83A>C (n.*83A>C) c.3598A>C (p.Asn1200His) c.3568A>C (p.Asn1190His) c.3694A>C (p.Asn1232His) c.2983A>C (p.Asn995His) c.3597+695A>C (n.3597+695A>C) c.3547+1234A>C (n.3547+1234A>C) c.2920A>C (p.Asn974His) c.2887A>C (p.Asn963His) c.3100A>C (p.Asn1034His) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.53235088T= | CA2429770689 | IQSEC2 | c.3757A= (p.Asn1253=) c.1453+695A= c.962+695A= c.316+1234A= (n.316+1234A=) c.514+1234A= (n.514+1234A=) c.*83A= (n.*83A=) c.3598A= (p.Asn1200=) c.3568A= (p.Asn1190=) c.3694A= (p.Asn1232=) c.2983A= (p.Asn995=) c.3597+695A= (n.3597+695A=) c.3547+1234A= (n.3547+1234A=) c.2920A= (p.Asn974=) c.2887A= (p.Asn963=) c.3100A= (p.Asn1034=) | |
X | g.53235089G>A | CA516673950 | IQSEC2 | c.3756C>T (p.Ser1252=) c.1453+694C>T c.962+694C>T c.316+1233C>T (n.316+1233C>T) c.514+1233C>T (n.514+1233C>T) c.*82C>T (n.*82C>T) c.3597C>T (p.Ser1199=) c.3567C>T (p.Ser1189=) c.3693C>T (p.Ser1231=) c.2982C>T (p.Ser994=) c.3597+694C>T (n.3597+694C>T) c.3547+1233C>T (n.3547+1233C>T) c.2919C>T (p.Ser973=) c.2886C>T (p.Ser962=) c.3099C>T (p.Ser1033=) | |
X | g.53235089G>C | CA516673951 | IQSEC2 | c.3756C>G (p.Ser1252=) c.1453+694C>G c.962+694C>G c.316+1233C>G (n.316+1233C>G) c.514+1233C>G (n.514+1233C>G) c.*82C>G (n.*82C>G) c.3597C>G (p.Ser1199=) c.3567C>G (p.Ser1189=) c.3693C>G (p.Ser1231=) c.2982C>G (p.Ser994=) c.3597+694C>G (n.3597+694C>G) c.3547+1233C>G (n.3547+1233C>G) c.2919C>G (p.Ser973=) c.2886C>G (p.Ser962=) c.3099C>G (p.Ser1033=) | |
X | g.53235089G>T | CA516673952 | IQSEC2 | c.3756C>A (p.Ser1252=) c.1453+694C>A c.962+694C>A c.316+1233C>A (n.316+1233C>A) c.514+1233C>A (n.514+1233C>A) c.*82C>A (n.*82C>A) c.3597C>A (p.Ser1199=) c.3567C>A (p.Ser1189=) c.3693C>A (p.Ser1231=) c.2982C>A (p.Ser994=) c.3597+694C>A (n.3597+694C>A) c.3547+1233C>A (n.3547+1233C>A) c.2919C>A (p.Ser973=) c.2886C>A (p.Ser962=) c.3099C>A (p.Ser1033=) | |
X | g.53235090G>A | CA413142145 | IQSEC2 | c.3755C>T (p.Ser1252Phe) c.1453+693C>T c.962+693C>T c.316+1232C>T (n.316+1232C>T) c.514+1232C>T (n.514+1232C>T) c.*81C>T (n.*81C>T) c.3596C>T (p.Ser1199Phe) c.3566C>T (p.Ser1189Phe) c.3692C>T (p.Ser1231Phe) c.2981C>T (p.Ser994Phe) c.3597+693C>T (n.3597+693C>T) c.3547+1232C>T (n.3547+1232C>T) c.2918C>T (p.Ser973Phe) c.2885C>T (p.Ser962Phe) c.3098C>T (p.Ser1033Phe) | |
X | g.53235090G>C | CA413142147 | IQSEC2 | c.3755C>G (p.Ser1252Cys) c.1453+693C>G c.962+693C>G c.316+1232C>G (n.316+1232C>G) c.514+1232C>G (n.514+1232C>G) c.*81C>G (n.*81C>G) c.3596C>G (p.Ser1199Cys) c.3566C>G (p.Ser1189Cys) c.3692C>G (p.Ser1231Cys) c.2981C>G (p.Ser994Cys) c.3597+693C>G (n.3597+693C>G) c.3547+1232C>G (n.3547+1232C>G) c.2918C>G (p.Ser973Cys) c.2885C>G (p.Ser962Cys) c.3098C>G (p.Ser1033Cys) | |
X | g.53235090G>T | CA413142148 | IQSEC2 | c.3755C>A (p.Ser1252Tyr) c.1453+693C>A c.962+693C>A c.316+1232C>A (n.316+1232C>A) c.514+1232C>A (n.514+1232C>A) c.*81C>A (n.*81C>A) c.3596C>A (p.Ser1199Tyr) c.3566C>A (p.Ser1189Tyr) c.3692C>A (p.Ser1231Tyr) c.2981C>A (p.Ser994Tyr) c.3597+693C>A (n.3597+693C>A) c.3547+1232C>A (n.3547+1232C>A) c.2918C>A (p.Ser973Tyr) c.2885C>A (p.Ser962Tyr) c.3098C>A (p.Ser1033Tyr) | |
X | g.53235091A>C | CA413142150 | IQSEC2 | c.3754T>G (p.Ser1252Ala) c.1453+692T>G c.962+692T>G c.316+1231T>G (n.316+1231T>G) c.514+1231T>G (n.514+1231T>G) c.*80T>G (n.*80T>G) c.3595T>G (p.Ser1199Ala) c.3565T>G (p.Ser1189Ala) c.3691T>G (p.Ser1231Ala) c.2980T>G (p.Ser994Ala) c.3597+692T>G (n.3597+692T>G) c.3547+1231T>G (n.3547+1231T>G) c.2917T>G (p.Ser973Ala) c.2884T>G (p.Ser962Ala) c.3097T>G (p.Ser1033Ala) | |
X | g.53235091A>G | CA413142154 | IQSEC2 | c.3754T>C (p.Ser1252Pro) c.1453+692T>C c.962+692T>C c.316+1231T>C (n.316+1231T>C) c.514+1231T>C (n.514+1231T>C) c.*80T>C (n.*80T>C) c.3595T>C (p.Ser1199Pro) c.3565T>C (p.Ser1189Pro) c.3691T>C (p.Ser1231Pro) c.2980T>C (p.Ser994Pro) c.3597+692T>C (n.3597+692T>C) c.3547+1231T>C (n.3547+1231T>C) c.2917T>C (p.Ser973Pro) c.2884T>C (p.Ser962Pro) c.3097T>C (p.Ser1033Pro) | gnomAD v4 |
X | g.53235091A>T | CA413142157 | IQSEC2 | c.3754T>A (p.Ser1252Thr) c.1453+692T>A c.962+692T>A c.316+1231T>A (n.316+1231T>A) c.514+1231T>A (n.514+1231T>A) c.*80T>A (n.*80T>A) c.3595T>A (p.Ser1199Thr) c.3565T>A (p.Ser1189Thr) c.3691T>A (p.Ser1231Thr) c.2980T>A (p.Ser994Thr) c.3597+692T>A (n.3597+692T>A) c.3547+1231T>A (n.3547+1231T>A) c.2917T>A (p.Ser973Thr) c.2884T>A (p.Ser962Thr) c.3097T>A (p.Ser1033Thr) | |
X | g.53235091_53235094del | CA2693794346 | IQSEC2 | c.3751_3754del (p.Val1251ProfsTer?) c.1453+689_1453+692del c.962+689_962+692del c.316+1228_316+1231del (n.316+1228_316+1231del) c.514+1228_514+1231del (n.514+1228_514+1231del) c.*77_*80del (n.*77_*80del) c.3592_3595del (p.Val1198ProfsTer?) c.3562_3565del (p.Val1188ProfsTer?) c.3688_3691del (p.Val1230ProfsTer?) c.2977_2980del (p.Val993ProfsTer?) c.3597+689_3597+692del (n.3597+689_3597+692del) c.3547+1228_3547+1231del (n.3547+1228_3547+1231del) c.2914_2917del (p.Val972ProfsTer?) c.2881_2884del (p.Val961ProfsTer?) c.3094_3097del (p.Val1032ProfsTer?) | gnomAD v4 |
X | g.53235092G>A | CA516673958 | IQSEC2 | c.3753C>T (p.Val1251=) c.1453+691C>T c.962+691C>T c.316+1230C>T (n.316+1230C>T) c.514+1230C>T (n.514+1230C>T) c.*79C>T (n.*79C>T) c.3594C>T (p.Val1198=) c.3564C>T (p.Val1188=) c.3690C>T (p.Val1230=) c.2979C>T (p.Val993=) c.3597+691C>T (n.3597+691C>T) c.3547+1230C>T (n.3547+1230C>T) c.2916C>T (p.Val972=) c.2883C>T (p.Val961=) c.3096C>T (p.Val1032=) | |
X | g.53235092G>C | CA516673960 | IQSEC2 | c.3753C>G (p.Val1251=) c.1453+691C>G c.962+691C>G c.316+1230C>G (n.316+1230C>G) c.514+1230C>G (n.514+1230C>G) c.*79C>G (n.*79C>G) c.3594C>G (p.Val1198=) c.3564C>G (p.Val1188=) c.3690C>G (p.Val1230=) c.2979C>G (p.Val993=) c.3597+691C>G (n.3597+691C>G) c.3547+1230C>G (n.3547+1230C>G) c.2916C>G (p.Val972=) c.2883C>G (p.Val961=) c.3096C>G (p.Val1032=) | |
X | g.53235092G>T | CA516673961 | IQSEC2 | c.3753C>A (p.Val1251=) c.1453+691C>A c.962+691C>A c.316+1230C>A (n.316+1230C>A) c.514+1230C>A (n.514+1230C>A) c.*79C>A (n.*79C>A) c.3594C>A (p.Val1198=) c.3564C>A (p.Val1188=) c.3690C>A (p.Val1230=) c.2979C>A (p.Val993=) c.3597+691C>A (n.3597+691C>A) c.3547+1230C>A (n.3547+1230C>A) c.2916C>A (p.Val972=) c.2883C>A (p.Val961=) c.3096C>A (p.Val1032=) | gnomAD v4 |
X | g.53235093A>C | CA413142163 | IQSEC2 | c.3752T>G (p.Val1251Gly) c.1453+690T>G c.962+690T>G c.316+1229T>G (n.316+1229T>G) c.514+1229T>G (n.514+1229T>G) c.*78T>G (n.*78T>G) c.3593T>G (p.Val1198Gly) c.3563T>G (p.Val1188Gly) c.3689T>G (p.Val1230Gly) c.2978T>G (p.Val993Gly) c.3597+690T>G (n.3597+690T>G) c.3547+1229T>G (n.3547+1229T>G) c.2915T>G (p.Val972Gly) c.2882T>G (p.Val961Gly) c.3095T>G (p.Val1032Gly) | |
X | g.53235093A>G | CA413142166 | IQSEC2 | c.3752T>C (p.Val1251Ala) c.1453+690T>C c.962+690T>C c.316+1229T>C (n.316+1229T>C) c.514+1229T>C (n.514+1229T>C) c.*78T>C (n.*78T>C) c.3593T>C (p.Val1198Ala) c.3563T>C (p.Val1188Ala) c.3689T>C (p.Val1230Ala) c.2978T>C (p.Val993Ala) c.3597+690T>C (n.3597+690T>C) c.3547+1229T>C (n.3547+1229T>C) c.2915T>C (p.Val972Ala) c.2882T>C (p.Val961Ala) c.3095T>C (p.Val1032Ala) | |
X | g.53235093A>T | CA413142169 | IQSEC2 | c.3752T>A (p.Val1251Asp) c.1453+690T>A c.962+690T>A c.316+1229T>A (n.316+1229T>A) c.514+1229T>A (n.514+1229T>A) c.*78T>A (n.*78T>A) c.3593T>A (p.Val1198Asp) c.3563T>A (p.Val1188Asp) c.3689T>A (p.Val1230Asp) c.2978T>A (p.Val993Asp) c.3597+690T>A (n.3597+690T>A) c.3547+1229T>A (n.3547+1229T>A) c.2915T>A (p.Val972Asp) c.2882T>A (p.Val961Asp) c.3095T>A (p.Val1032Asp) | |
X | g.53235094C>A | CA413142179 | IQSEC2 | c.3751G>T (p.Val1251Phe) c.1453+689G>T c.962+689G>T c.316+1228G>T (n.316+1228G>T) c.514+1228G>T (n.514+1228G>T) c.*77G>T (n.*77G>T) c.3592G>T (p.Val1198Phe) c.3562G>T (p.Val1188Phe) c.3688G>T (p.Val1230Phe) c.2977G>T (p.Val993Phe) c.3597+689G>T (n.3597+689G>T) c.3547+1228G>T (n.3547+1228G>T) c.2914G>T (p.Val972Phe) c.2881G>T (p.Val961Phe) c.3094G>T (p.Val1032Phe) | |
X | g.53235094C= | CA2429770690 | IQSEC2 | c.3751G= (p.Val1251=) c.1453+689G= c.962+689G= c.316+1228G= (n.316+1228G=) c.514+1228G= (n.514+1228G=) c.*77G= (n.*77G=) c.3592G= (p.Val1198=) c.3562G= (p.Val1188=) c.3688G= (p.Val1230=) c.2977G= (p.Val993=) c.3597+689G= (n.3597+689G=) c.3547+1228G= (n.3547+1228G=) c.2914G= (p.Val972=) c.2881G= (p.Val961=) c.3094G= (p.Val1032=) | |
X | g.53235094C>G | CA413142175 | IQSEC2 | c.3751G>C (p.Val1251Leu) c.1453+689G>C c.962+689G>C c.316+1228G>C (n.316+1228G>C) c.514+1228G>C (n.514+1228G>C) c.*77G>C (n.*77G>C) c.3592G>C (p.Val1198Leu) c.3562G>C (p.Val1188Leu) c.3688G>C (p.Val1230Leu) c.2977G>C (p.Val993Leu) c.3597+689G>C (n.3597+689G>C) c.3547+1228G>C (n.3547+1228G>C) c.2914G>C (p.Val972Leu) c.2881G>C (p.Val961Leu) c.3094G>C (p.Val1032Leu) | dbSNP |
X | g.53235094C>T | CA413142173 | IQSEC2 | c.3751G>A (p.Val1251Ile) c.1453+689G>A c.962+689G>A c.316+1228G>A (n.316+1228G>A) c.514+1228G>A (n.514+1228G>A) c.*77G>A (n.*77G>A) c.3592G>A (p.Val1198Ile) c.3562G>A (p.Val1188Ile) c.3688G>A (p.Val1230Ile) c.2977G>A (p.Val993Ile) c.3597+689G>A (n.3597+689G>A) c.3547+1228G>A (n.3547+1228G>A) c.2914G>A (p.Val972Ile) c.2881G>A (p.Val961Ile) c.3094G>A (p.Val1032Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235095G>A | CA329162210 | IQSEC2 | c.3750C>T (p.Pro1250=) c.1453+688C>T c.962+688C>T c.316+1227C>T (n.316+1227C>T) c.514+1227C>T (n.514+1227C>T) c.*76C>T (n.*76C>T) c.3591C>T (p.Pro1197=) c.3561C>T (p.Pro1187=) c.3687C>T (p.Pro1229=) c.2976C>T (p.Pro992=) c.3597+688C>T (n.3597+688C>T) c.3547+1227C>T (n.3547+1227C>T) c.2913C>T (p.Pro971=) c.2880C>T (p.Pro960=) c.3093C>T (p.Pro1031=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53235095G>C | CA516673966 | IQSEC2 | c.3750C>G (p.Pro1250=) c.1453+688C>G c.962+688C>G c.316+1227C>G (n.316+1227C>G) c.514+1227C>G (n.514+1227C>G) c.*76C>G (n.*76C>G) c.3591C>G (p.Pro1197=) c.3561C>G (p.Pro1187=) c.3687C>G (p.Pro1229=) c.2976C>G (p.Pro992=) c.3597+688C>G (n.3597+688C>G) c.3547+1227C>G (n.3547+1227C>G) c.2913C>G (p.Pro971=) c.2880C>G (p.Pro960=) c.3093C>G (p.Pro1031=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235095G= | CA2429770691 | IQSEC2 | c.3750C= (p.Pro1250=) c.1453+688C= c.962+688C= c.316+1227C= (n.316+1227C=) c.514+1227C= (n.514+1227C=) c.*76C= (n.*76C=) c.3591C= (p.Pro1197=) c.3561C= (p.Pro1187=) c.3687C= (p.Pro1229=) c.2976C= (p.Pro992=) c.3597+688C= (n.3597+688C=) c.3547+1227C= (n.3547+1227C=) c.2913C= (p.Pro971=) c.2880C= (p.Pro960=) c.3093C= (p.Pro1031=) | |
X | g.53235095G>T | CA516673967 | IQSEC2 | c.3750C>A (p.Pro1250=) c.1453+688C>A c.962+688C>A c.316+1227C>A (n.316+1227C>A) c.514+1227C>A (n.514+1227C>A) c.*76C>A (n.*76C>A) c.3591C>A (p.Pro1197=) c.3561C>A (p.Pro1187=) c.3687C>A (p.Pro1229=) c.2976C>A (p.Pro992=) c.3597+688C>A (n.3597+688C>A) c.3547+1227C>A (n.3547+1227C>A) c.2913C>A (p.Pro971=) c.2880C>A (p.Pro960=) c.3093C>A (p.Pro1031=) | |
X | g.53235096G>A | CA413142182 | IQSEC2 | c.3749C>T (p.Pro1250Leu) c.1453+687C>T c.962+687C>T c.316+1226C>T (n.316+1226C>T) c.514+1226C>T (n.514+1226C>T) n.570C>T c.*75C>T (n.*75C>T) c.3590C>T (p.Pro1197Leu) c.3560C>T (p.Pro1187Leu) c.3686C>T (p.Pro1229Leu) c.2975C>T (p.Pro992Leu) c.3597+687C>T (n.3597+687C>T) c.3547+1226C>T (n.3547+1226C>T) c.2912C>T (p.Pro971Leu) c.2879C>T (p.Pro960Leu) c.3092C>T (p.Pro1031Leu) | |
X | g.53235096G>C | CA413142185 | IQSEC2 | c.3749C>G (p.Pro1250Arg) c.1453+687C>G c.962+687C>G c.316+1226C>G (n.316+1226C>G) c.514+1226C>G (n.514+1226C>G) n.570C>G c.*75C>G (n.*75C>G) c.3590C>G (p.Pro1197Arg) c.3560C>G (p.Pro1187Arg) c.3686C>G (p.Pro1229Arg) c.2975C>G (p.Pro992Arg) c.3597+687C>G (n.3597+687C>G) c.3547+1226C>G (n.3547+1226C>G) c.2912C>G (p.Pro971Arg) c.2879C>G (p.Pro960Arg) c.3092C>G (p.Pro1031Arg) | |
X | g.53235096G>T | CA413142189 | IQSEC2 | c.3749C>A (p.Pro1250His) c.1453+687C>A c.962+687C>A c.316+1226C>A (n.316+1226C>A) c.514+1226C>A (n.514+1226C>A) n.570C>A c.*75C>A (n.*75C>A) c.3590C>A (p.Pro1197His) c.3560C>A (p.Pro1187His) c.3686C>A (p.Pro1229His) c.2975C>A (p.Pro992His) c.3597+687C>A (n.3597+687C>A) c.3547+1226C>A (n.3547+1226C>A) c.2912C>A (p.Pro971His) c.2879C>A (p.Pro960His) c.3092C>A (p.Pro1031His) | |
X | g.53235097G>A | CA413142192 | IQSEC2 | c.3748C>T (p.Pro1250Ser) c.1453+686C>T c.962+686C>T c.316+1225C>T (n.316+1225C>T) c.514+1225C>T (n.514+1225C>T) n.569C>T c.*74C>T (n.*74C>T) c.3589C>T (p.Pro1197Ser) c.3559C>T (p.Pro1187Ser) c.3685C>T (p.Pro1229Ser) c.2974C>T (p.Pro992Ser) c.3597+686C>T (n.3597+686C>T) c.3547+1225C>T (n.3547+1225C>T) c.2911C>T (p.Pro971Ser) c.2878C>T (p.Pro960Ser) c.3091C>T (p.Pro1031Ser) | |
X | g.53235097G>C | CA413142195 | IQSEC2 | c.3748C>G (p.Pro1250Ala) c.1453+686C>G c.962+686C>G c.316+1225C>G (n.316+1225C>G) c.514+1225C>G (n.514+1225C>G) n.569C>G c.*74C>G (n.*74C>G) c.3589C>G (p.Pro1197Ala) c.3559C>G (p.Pro1187Ala) c.3685C>G (p.Pro1229Ala) c.2974C>G (p.Pro992Ala) c.3597+686C>G (n.3597+686C>G) c.3547+1225C>G (n.3547+1225C>G) c.2911C>G (p.Pro971Ala) c.2878C>G (p.Pro960Ala) c.3091C>G (p.Pro1031Ala) | gnomAD v4 |
X | g.53235097G>T | CA413142198 | IQSEC2 | c.3748C>A (p.Pro1250Thr) c.1453+686C>A c.962+686C>A c.316+1225C>A (n.316+1225C>A) c.514+1225C>A (n.514+1225C>A) n.569C>A c.*74C>A (n.*74C>A) c.3589C>A (p.Pro1197Thr) c.3559C>A (p.Pro1187Thr) c.3685C>A (p.Pro1229Thr) c.2974C>A (p.Pro992Thr) c.3597+686C>A (n.3597+686C>A) c.3547+1225C>A (n.3547+1225C>A) c.2911C>A (p.Pro971Thr) c.2878C>A (p.Pro960Thr) c.3091C>A (p.Pro1031Thr) | gnomAD v4 |
X | g.53235098_53235126del | CA2693794361 | IQSEC2 | c.3720_3748del (p.Pro1241ArgfsTer?) c.1453+658_1453+686del c.962+658_962+686del c.316+1197_316+1225del (n.316+1197_316+1225del) c.514+1197_514+1225del (n.514+1197_514+1225del) n.541_569del c.*46_*74del (n.*46_*74del) c.3561_3589del (p.Pro1188ArgfsTer?) c.3531_3559del (p.Pro1178ArgfsTer?) c.3657_3685del (p.Pro1220ArgfsTer?) c.2946_2974del (p.Pro983ArgfsTer?) c.3597+658_3597+686del (n.3597+658_3597+686del) c.3547+1197_3547+1225del (n.3547+1197_3547+1225del) c.2883_2911del (p.Pro962ArgfsTer?) c.2850_2878del (p.Pro951ArgfsTer?) c.3063_3091del (p.Pro1022ArgfsTer?) | gnomAD v4 |
X | g.53235098C>A | CA413142203 | IQSEC2 | c.3747G>T (p.Arg1249Ser) c.1453+685G>T c.962+685G>T c.316+1224G>T (n.316+1224G>T) c.514+1224G>T (n.514+1224G>T) n.568G>T c.*73G>T (n.*73G>T) c.3588G>T (p.Arg1196Ser) c.3558G>T (p.Arg1186Ser) c.3684G>T (p.Arg1228Ser) c.2973G>T (p.Arg991Ser) c.3597+685G>T (n.3597+685G>T) c.3547+1224G>T (n.3547+1224G>T) c.2910G>T (p.Arg970Ser) c.2877G>T (p.Arg959Ser) c.3090G>T (p.Arg1030Ser) | |
X | g.53235098C>G | CA413142206 | IQSEC2 | c.3747G>C (p.Arg1249Ser) c.1453+685G>C c.962+685G>C c.316+1224G>C (n.316+1224G>C) c.514+1224G>C (n.514+1224G>C) n.568G>C c.*73G>C (n.*73G>C) c.3588G>C (p.Arg1196Ser) c.3558G>C (p.Arg1186Ser) c.3684G>C (p.Arg1228Ser) c.2973G>C (p.Arg991Ser) c.3597+685G>C (n.3597+685G>C) c.3547+1224G>C (n.3547+1224G>C) c.2910G>C (p.Arg970Ser) c.2877G>C (p.Arg959Ser) c.3090G>C (p.Arg1030Ser) | |
X | g.53235098C>T | CA516673974 | IQSEC2 | c.3747G>A (p.Arg1249=) c.1453+685G>A c.962+685G>A c.316+1224G>A (n.316+1224G>A) c.514+1224G>A (n.514+1224G>A) n.568G>A c.*73G>A (n.*73G>A) c.3588G>A (p.Arg1196=) c.3558G>A (p.Arg1186=) c.3684G>A (p.Arg1228=) c.2973G>A (p.Arg991=) c.3597+685G>A (n.3597+685G>A) c.3547+1224G>A (n.3547+1224G>A) c.2910G>A (p.Arg970=) c.2877G>A (p.Arg959=) c.3090G>A (p.Arg1030=) | |
X | g.53235098_53235119del | CA2693794365 | IQSEC2 | c.3726_3747del (p.Glu1243ProfsTer?) c.1453+664_1453+685del c.962+664_962+685del c.316+1203_316+1224del (n.316+1203_316+1224del) c.514+1203_514+1224del (n.514+1203_514+1224del) n.547_568del c.*52_*73del (n.*52_*73del) c.3567_3588del (p.Glu1190ProfsTer?) c.3537_3558del (p.Glu1180ProfsTer?) c.3663_3684del (p.Glu1222ProfsTer?) c.2952_2973del (p.Glu985ProfsTer?) c.3597+664_3597+685del (n.3597+664_3597+685del) c.3547+1203_3547+1224del (n.3547+1203_3547+1224del) c.2889_2910del (p.Glu964ProfsTer?) c.2856_2877del (p.Glu953ProfsTer?) c.3069_3090del (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235098_53235122del | CA1133160106 | IQSEC2 | c.3723_3747del (p.Glu1243SerfsTer?) c.1453+661_1453+685del c.962+661_962+685del c.316+1200_316+1224del (n.316+1200_316+1224del) c.514+1200_514+1224del (n.514+1200_514+1224del) n.544_568del c.*49_*73del (n.*49_*73del) c.3564_3588del (p.Glu1190SerfsTer?) c.3534_3558del (p.Glu1180SerfsTer?) c.3660_3684del (p.Glu1222SerfsTer?) c.2949_2973del (p.Glu985SerfsTer?) c.3597+661_3597+685del (n.3597+661_3597+685del) c.3547+1200_3547+1224del (n.3547+1200_3547+1224del) c.2886_2910del (p.Glu964SerfsTer?) c.2853_2877del (p.Glu953SerfsTer?) c.3066_3090del (p.Glu1024SerfsTer?) | gnomAD v4 |
X | g.53235098_53235125del | CA2693794370 | IQSEC2 | c.3720_3747del (p.Pro1242SerfsTer?) c.1453+658_1453+685del c.962+658_962+685del c.316+1197_316+1224del (n.316+1197_316+1224del) c.514+1197_514+1224del (n.514+1197_514+1224del) n.541_568del c.*46_*73del (n.*46_*73del) c.3561_3588del (p.Pro1189SerfsTer?) c.3531_3558del (p.Pro1179SerfsTer?) c.3657_3684del (p.Pro1221SerfsTer?) c.2946_2973del (p.Pro984SerfsTer?) c.3597+658_3597+685del (n.3597+658_3597+685del) c.3547+1197_3547+1224del (n.3547+1197_3547+1224del) c.2883_2910del (p.Pro963SerfsTer?) c.2850_2877del (p.Pro952SerfsTer?) c.3063_3090del (p.Pro1023SerfsTer?) | gnomAD v4 |
X | g.53235099C>A | CA413142210 | IQSEC2 | c.3746G>T (p.Arg1249Met) c.1453+684G>T c.962+684G>T c.316+1223G>T (n.316+1223G>T) c.514+1223G>T (n.514+1223G>T) n.567G>T c.*72G>T (n.*72G>T) c.3587G>T (p.Arg1196Met) c.3557G>T (p.Arg1186Met) c.3683G>T (p.Arg1228Met) c.2972G>T (p.Arg991Met) c.3597+684G>T (n.3597+684G>T) c.3547+1223G>T (n.3547+1223G>T) c.2909G>T (p.Arg970Met) c.2876G>T (p.Arg959Met) c.3089G>T (p.Arg1030Met) | gnomAD v4 |
X | g.53235099C>G | CA413142213 | IQSEC2 | c.3746G>C (p.Arg1249Thr) c.1453+684G>C c.962+684G>C c.316+1223G>C (n.316+1223G>C) c.514+1223G>C (n.514+1223G>C) n.567G>C c.*72G>C (n.*72G>C) c.3587G>C (p.Arg1196Thr) c.3557G>C (p.Arg1186Thr) c.3683G>C (p.Arg1228Thr) c.2972G>C (p.Arg991Thr) c.3597+684G>C (n.3597+684G>C) c.3547+1223G>C (n.3547+1223G>C) c.2909G>C (p.Arg970Thr) c.2876G>C (p.Arg959Thr) c.3089G>C (p.Arg1030Thr) | |
X | g.53235099C>T | CA413142217 | IQSEC2 | c.3746G>A (p.Arg1249Lys) c.1453+684G>A c.962+684G>A c.316+1223G>A (n.316+1223G>A) c.514+1223G>A (n.514+1223G>A) n.567G>A c.*72G>A (n.*72G>A) c.3587G>A (p.Arg1196Lys) c.3557G>A (p.Arg1186Lys) c.3683G>A (p.Arg1228Lys) c.2972G>A (p.Arg991Lys) c.3597+684G>A (n.3597+684G>A) c.3547+1223G>A (n.3547+1223G>A) c.2909G>A (p.Arg970Lys) c.2876G>A (p.Arg959Lys) c.3089G>A (p.Arg1030Lys) | |
X | g.53235101_53235102del | CA2579614735 | IQSEC2 | c.3745_3746del (p.Arg1249AlafsTer?) c.1453+683_1453+684del c.962+683_962+684del c.316+1222_316+1223del (n.316+1222_316+1223del) c.514+1222_514+1223del (n.514+1222_514+1223del) n.566_567del c.*71_*72del (n.*71_*72del) c.3586_3587del (p.Arg1196AlafsTer?) c.3556_3557del (p.Arg1186AlafsTer?) c.3682_3683del (p.Arg1228AlafsTer?) c.2971_2972del (p.Arg991AlafsTer?) c.3597+683_3597+684del (n.3597+683_3597+684del) c.3547+1222_3547+1223del (n.3547+1222_3547+1223del) c.2908_2909del (p.Arg970AlafsTer?) c.2875_2876del (p.Arg959AlafsTer?) c.3088_3089del (p.Arg1030AlafsTer?) | |
X | g.53235100T>A | CA413142222 | IQSEC2 | c.3745A>T (p.Arg1249Trp) c.1453+683A>T c.962+683A>T c.316+1222A>T (n.316+1222A>T) c.514+1222A>T (n.514+1222A>T) n.566A>T c.*71A>T (n.*71A>T) c.3586A>T (p.Arg1196Trp) c.3556A>T (p.Arg1186Trp) c.3682A>T (p.Arg1228Trp) c.2971A>T (p.Arg991Trp) c.3597+683A>T (n.3597+683A>T) c.3547+1222A>T (n.3547+1222A>T) c.2908A>T (p.Arg970Trp) c.2875A>T (p.Arg959Trp) c.3088A>T (p.Arg1030Trp) | |
X | g.53235100T>C | CA413142224 | IQSEC2 | c.3745A>G (p.Arg1249Gly) c.1453+683A>G c.962+683A>G c.316+1222A>G (n.316+1222A>G) c.514+1222A>G (n.514+1222A>G) n.566A>G c.*71A>G (n.*71A>G) c.3586A>G (p.Arg1196Gly) c.3556A>G (p.Arg1186Gly) c.3682A>G (p.Arg1228Gly) c.2971A>G (p.Arg991Gly) c.3597+683A>G (n.3597+683A>G) c.3547+1222A>G (n.3547+1222A>G) c.2908A>G (p.Arg970Gly) c.2875A>G (p.Arg959Gly) c.3088A>G (p.Arg1030Gly) | |
X | g.53235100T>G | CA516673978 | IQSEC2 | c.3745A>C (p.Arg1249=) c.1453+683A>C c.962+683A>C c.316+1222A>C (n.316+1222A>C) c.514+1222A>C (n.514+1222A>C) n.566A>C c.*71A>C (n.*71A>C) c.3586A>C (p.Arg1196=) c.3556A>C (p.Arg1186=) c.3682A>C (p.Arg1228=) c.2971A>C (p.Arg991=) c.3597+683A>C (n.3597+683A>C) c.3547+1222A>C (n.3547+1222A>C) c.2908A>C (p.Arg970=) c.2875A>C (p.Arg959=) c.3088A>C (p.Arg1030=) | |
X | g.53235101C>A | CA413142231 | IQSEC2 | c.3744G>T (p.Gln1248His) c.1453+682G>T c.962+682G>T c.316+1221G>T (n.316+1221G>T) c.514+1221G>T (n.514+1221G>T) n.565G>T c.*70G>T (n.*70G>T) c.3585G>T (p.Gln1195His) c.3555G>T (p.Gln1185His) c.3681G>T (p.Gln1227His) c.2970G>T (p.Gln990His) c.3597+682G>T (n.3597+682G>T) c.3547+1221G>T (n.3547+1221G>T) c.2907G>T (p.Gln969His) c.2874G>T (p.Gln958His) c.3087G>T (p.Gln1029His) | |
X | g.53235101C>G | CA413142228 | IQSEC2 | c.3744G>C (p.Gln1248His) c.1453+682G>C c.962+682G>C c.316+1221G>C (n.316+1221G>C) c.514+1221G>C (n.514+1221G>C) n.565G>C c.*70G>C (n.*70G>C) c.3585G>C (p.Gln1195His) c.3555G>C (p.Gln1185His) c.3681G>C (p.Gln1227His) c.2970G>C (p.Gln990His) c.3597+682G>C (n.3597+682G>C) c.3547+1221G>C (n.3547+1221G>C) c.2907G>C (p.Gln969His) c.2874G>C (p.Gln958His) c.3087G>C (p.Gln1029His) | |
X | g.53235101C>T | CA516673979 | IQSEC2 | c.3744G>A (p.Gln1248=) c.1453+682G>A c.962+682G>A c.316+1221G>A (n.316+1221G>A) c.514+1221G>A (n.514+1221G>A) n.565G>A c.*70G>A (n.*70G>A) c.3585G>A (p.Gln1195=) c.3555G>A (p.Gln1185=) c.3681G>A (p.Gln1227=) c.2970G>A (p.Gln990=) c.3597+682G>A (n.3597+682G>A) c.3547+1221G>A (n.3547+1221G>A) c.2907G>A (p.Gln969=) c.2874G>A (p.Gln958=) c.3087G>A (p.Gln1029=) | |
X | g.53235102T>A | CA413142233 | IQSEC2 | c.3743A>T (p.Gln1248Leu) c.1453+681A>T c.962+681A>T c.316+1220A>T (n.316+1220A>T) c.514+1220A>T (n.514+1220A>T) n.564A>T c.*69A>T (n.*69A>T) c.3584A>T (p.Gln1195Leu) c.3554A>T (p.Gln1185Leu) c.3680A>T (p.Gln1227Leu) c.2969A>T (p.Gln990Leu) c.3597+681A>T (n.3597+681A>T) c.3547+1220A>T (n.3547+1220A>T) c.2906A>T (p.Gln969Leu) c.2873A>T (p.Gln958Leu) c.3086A>T (p.Gln1029Leu) | |
X | g.53235102T>C | CA413142241 | IQSEC2 | c.3743A>G (p.Gln1248Arg) c.1453+681A>G c.962+681A>G c.316+1220A>G (n.316+1220A>G) c.514+1220A>G (n.514+1220A>G) n.564A>G c.*69A>G (n.*69A>G) c.3584A>G (p.Gln1195Arg) c.3554A>G (p.Gln1185Arg) c.3680A>G (p.Gln1227Arg) c.2969A>G (p.Gln990Arg) c.3597+681A>G (n.3597+681A>G) c.3547+1220A>G (n.3547+1220A>G) c.2906A>G (p.Gln969Arg) c.2873A>G (p.Gln958Arg) c.3086A>G (p.Gln1029Arg) | |
X | g.53235102T>G | CA413142238 | IQSEC2 | c.3743A>C (p.Gln1248Pro) c.1453+681A>C c.962+681A>C c.316+1220A>C (n.316+1220A>C) c.514+1220A>C (n.514+1220A>C) n.564A>C c.*69A>C (n.*69A>C) c.3584A>C (p.Gln1195Pro) c.3554A>C (p.Gln1185Pro) c.3680A>C (p.Gln1227Pro) c.2969A>C (p.Gln990Pro) c.3597+681A>C (n.3597+681A>C) c.3547+1220A>C (n.3547+1220A>C) c.2906A>C (p.Gln969Pro) c.2873A>C (p.Gln958Pro) c.3086A>C (p.Gln1029Pro) | |
X | g.53235103G>A | CA413142246 | IQSEC2 | c.3742C>T (p.Gln1248Ter) c.1453+680C>T c.962+680C>T c.316+1219C>T (n.316+1219C>T) c.514+1219C>T (n.514+1219C>T) n.563C>T c.*68C>T (n.*68C>T) c.3583C>T (p.Gln1195Ter) c.3553C>T (p.Gln1185Ter) c.3679C>T (p.Gln1227Ter) c.2968C>T (p.Gln990Ter) c.3597+680C>T (n.3597+680C>T) c.3547+1219C>T (n.3547+1219C>T) c.2905C>T (p.Gln969Ter) c.2872C>T (p.Gln958Ter) c.3085C>T (p.Gln1029Ter) | |
X | g.53235103G>C | CA413142251 | IQSEC2 | c.3742C>G (p.Gln1248Glu) c.1453+680C>G c.962+680C>G c.316+1219C>G (n.316+1219C>G) c.514+1219C>G (n.514+1219C>G) n.563C>G c.*68C>G (n.*68C>G) c.3583C>G (p.Gln1195Glu) c.3553C>G (p.Gln1185Glu) c.3679C>G (p.Gln1227Glu) c.2968C>G (p.Gln990Glu) c.3597+680C>G (n.3597+680C>G) c.3547+1219C>G (n.3547+1219C>G) c.2905C>G (p.Gln969Glu) c.2872C>G (p.Gln958Glu) c.3085C>G (p.Gln1029Glu) | |
X | g.53235103G>T | CA413142249 | IQSEC2 | c.3742C>A (p.Gln1248Lys) c.1453+680C>A c.962+680C>A c.316+1219C>A (n.316+1219C>A) c.514+1219C>A (n.514+1219C>A) n.563C>A c.*68C>A (n.*68C>A) c.3583C>A (p.Gln1195Lys) c.3553C>A (p.Gln1185Lys) c.3679C>A (p.Gln1227Lys) c.2968C>A (p.Gln990Lys) c.3597+680C>A (n.3597+680C>A) c.3547+1219C>A (n.3547+1219C>A) c.2905C>A (p.Gln969Lys) c.2872C>A (p.Gln958Lys) c.3085C>A (p.Gln1029Lys) | |
X | g.53235104G>A | CA516673986 | IQSEC2 | c.3741C>T (p.Ser1247=) c.1453+679C>T c.962+679C>T c.316+1218C>T (n.316+1218C>T) c.514+1218C>T (n.514+1218C>T) n.562C>T c.*67C>T (n.*67C>T) c.3582C>T (p.Ser1194=) c.3552C>T (p.Ser1184=) c.3678C>T (p.Ser1226=) c.2967C>T (p.Ser989=) c.3597+679C>T (n.3597+679C>T) c.3547+1218C>T (n.3547+1218C>T) c.2904C>T (p.Ser968=) c.2871C>T (p.Ser957=) c.3084C>T (p.Ser1028=) | gnomAD v4 |
X | g.53235104G>C | CA413142253 | IQSEC2 | c.3741C>G (p.Ser1247Arg) c.1453+679C>G c.962+679C>G c.316+1218C>G (n.316+1218C>G) c.514+1218C>G (n.514+1218C>G) n.562C>G c.*67C>G (n.*67C>G) c.3582C>G (p.Ser1194Arg) c.3552C>G (p.Ser1184Arg) c.3678C>G (p.Ser1226Arg) c.2967C>G (p.Ser989Arg) c.3597+679C>G (n.3597+679C>G) c.3547+1218C>G (n.3547+1218C>G) c.2904C>G (p.Ser968Arg) c.2871C>G (p.Ser957Arg) c.3084C>G (p.Ser1028Arg) | |
X | g.53235104G>T | CA413142255 | IQSEC2 | c.3741C>A (p.Ser1247Arg) c.1453+679C>A c.962+679C>A c.316+1218C>A (n.316+1218C>A) c.514+1218C>A (n.514+1218C>A) n.562C>A c.*67C>A (n.*67C>A) c.3582C>A (p.Ser1194Arg) c.3552C>A (p.Ser1184Arg) c.3678C>A (p.Ser1226Arg) c.2967C>A (p.Ser989Arg) c.3597+679C>A (n.3597+679C>A) c.3547+1218C>A (n.3547+1218C>A) c.2904C>A (p.Ser968Arg) c.2871C>A (p.Ser957Arg) c.3084C>A (p.Ser1028Arg) | |
X | g.53235105C>A | CA413142259 | IQSEC2 | c.3740G>T (p.Ser1247Ile) c.1453+678G>T c.962+678G>T c.316+1217G>T (n.316+1217G>T) c.514+1217G>T (n.514+1217G>T) n.561G>T c.*66G>T (n.*66G>T) c.3581G>T (p.Ser1194Ile) c.3551G>T (p.Ser1184Ile) c.3677G>T (p.Ser1226Ile) c.2966G>T (p.Ser989Ile) c.3597+678G>T (n.3597+678G>T) c.3547+1217G>T (n.3547+1217G>T) c.2903G>T (p.Ser968Ile) c.2870G>T (p.Ser957Ile) c.3083G>T (p.Ser1028Ile) | |
X | g.53235105C>G | CA413142263 | IQSEC2 | c.3740G>C (p.Ser1247Thr) c.1453+678G>C c.962+678G>C c.316+1217G>C (n.316+1217G>C) c.514+1217G>C (n.514+1217G>C) n.561G>C c.*66G>C (n.*66G>C) c.3581G>C (p.Ser1194Thr) c.3551G>C (p.Ser1184Thr) c.3677G>C (p.Ser1226Thr) c.2966G>C (p.Ser989Thr) c.3597+678G>C (n.3597+678G>C) c.3547+1217G>C (n.3547+1217G>C) c.2903G>C (p.Ser968Thr) c.2870G>C (p.Ser957Thr) c.3083G>C (p.Ser1028Thr) | gnomAD v4 |
X | g.53235105C>T | CA413142266 | IQSEC2 | c.3740G>A (p.Ser1247Asn) c.1453+678G>A c.962+678G>A c.316+1217G>A (n.316+1217G>A) c.514+1217G>A (n.514+1217G>A) n.561G>A c.*66G>A (n.*66G>A) c.3581G>A (p.Ser1194Asn) c.3551G>A (p.Ser1184Asn) c.3677G>A (p.Ser1226Asn) c.2966G>A (p.Ser989Asn) c.3597+678G>A (n.3597+678G>A) c.3547+1217G>A (n.3547+1217G>A) c.2903G>A (p.Ser968Asn) c.2870G>A (p.Ser957Asn) c.3083G>A (p.Ser1028Asn) | gnomAD v4 |
X | g.53235106T>A | CA413142271 | IQSEC2 | c.3739A>T (p.Ser1247Cys) c.1453+677A>T c.962+677A>T c.316+1216A>T (n.316+1216A>T) c.514+1216A>T (n.514+1216A>T) n.560A>T c.*65A>T (n.*65A>T) c.3580A>T (p.Ser1194Cys) c.3550A>T (p.Ser1184Cys) c.3676A>T (p.Ser1226Cys) c.2965A>T (p.Ser989Cys) c.3597+677A>T (n.3597+677A>T) c.3547+1216A>T (n.3547+1216A>T) c.2902A>T (p.Ser968Cys) c.2869A>T (p.Ser957Cys) c.3082A>T (p.Ser1028Cys) | |
X | g.53235106T>C | CA413142274 | IQSEC2 | c.3739A>G (p.Ser1247Gly) c.1453+677A>G c.962+677A>G c.316+1216A>G (n.316+1216A>G) c.514+1216A>G (n.514+1216A>G) n.560A>G c.*65A>G (n.*65A>G) c.3580A>G (p.Ser1194Gly) c.3550A>G (p.Ser1184Gly) c.3676A>G (p.Ser1226Gly) c.2965A>G (p.Ser989Gly) c.3597+677A>G (n.3597+677A>G) c.3547+1216A>G (n.3547+1216A>G) c.2902A>G (p.Ser968Gly) c.2869A>G (p.Ser957Gly) c.3082A>G (p.Ser1028Gly) | |
X | g.53235106T>G | CA413142277 | IQSEC2 | c.3739A>C (p.Ser1247Arg) c.1453+677A>C c.962+677A>C c.316+1216A>C (n.316+1216A>C) c.514+1216A>C (n.514+1216A>C) n.560A>C c.*65A>C (n.*65A>C) c.3580A>C (p.Ser1194Arg) c.3550A>C (p.Ser1184Arg) c.3676A>C (p.Ser1226Arg) c.2965A>C (p.Ser989Arg) c.3597+677A>C (n.3597+677A>C) c.3547+1216A>C (n.3547+1216A>C) c.2902A>C (p.Ser968Arg) c.2869A>C (p.Ser957Arg) c.3082A>C (p.Ser1028Arg) | |
X | g.53235107C>A | CA413142279 | IQSEC2 | c.3738G>T (p.Lys1246Asn) c.1453+676G>T c.962+676G>T c.316+1215G>T (n.316+1215G>T) c.514+1215G>T (n.514+1215G>T) n.559G>T c.*64G>T (n.*64G>T) c.3579G>T (p.Lys1193Asn) c.3549G>T (p.Lys1183Asn) c.3675G>T (p.Lys1225Asn) c.2964G>T (p.Lys988Asn) c.3597+676G>T (n.3597+676G>T) c.3547+1215G>T (n.3547+1215G>T) c.2901G>T (p.Lys967Asn) c.2868G>T (p.Lys956Asn) c.3081G>T (p.Lys1027Asn) | |
X | g.53235107C>G | CA413142283 | IQSEC2 | c.3738G>C (p.Lys1246Asn) c.1453+676G>C c.962+676G>C c.316+1215G>C (n.316+1215G>C) c.514+1215G>C (n.514+1215G>C) n.559G>C c.*64G>C (n.*64G>C) c.3579G>C (p.Lys1193Asn) c.3549G>C (p.Lys1183Asn) c.3675G>C (p.Lys1225Asn) c.2964G>C (p.Lys988Asn) c.3597+676G>C (n.3597+676G>C) c.3547+1215G>C (n.3547+1215G>C) c.2901G>C (p.Lys967Asn) c.2868G>C (p.Lys956Asn) c.3081G>C (p.Lys1027Asn) | |
X | g.53235107C>T | CA516673991 | IQSEC2 | c.3738G>A (p.Lys1246=) c.1453+676G>A c.962+676G>A c.316+1215G>A (n.316+1215G>A) c.514+1215G>A (n.514+1215G>A) n.559G>A c.*64G>A (n.*64G>A) c.3579G>A (p.Lys1193=) c.3549G>A (p.Lys1183=) c.3675G>A (p.Lys1225=) c.2964G>A (p.Lys988=) c.3597+676G>A (n.3597+676G>A) c.3547+1215G>A (n.3547+1215G>A) c.2901G>A (p.Lys967=) c.2868G>A (p.Lys956=) c.3081G>A (p.Lys1027=) | gnomAD v4 |
X | g.53235108T>A | CA413142288 | IQSEC2 | c.3737A>T (p.Lys1246Met) c.1453+675A>T c.962+675A>T c.316+1214A>T (n.316+1214A>T) c.514+1214A>T (n.514+1214A>T) n.558A>T c.*63A>T (n.*63A>T) c.3578A>T (p.Lys1193Met) c.3548A>T (p.Lys1183Met) c.3674A>T (p.Lys1225Met) c.2963A>T (p.Lys988Met) c.3597+675A>T (n.3597+675A>T) c.3547+1214A>T (n.3547+1214A>T) c.2900A>T (p.Lys967Met) c.2867A>T (p.Lys956Met) c.3080A>T (p.Lys1027Met) | |
X | g.53235108T>C | CA413142289 | IQSEC2 | c.3737A>G (p.Lys1246Arg) c.1453+675A>G c.962+675A>G c.316+1214A>G (n.316+1214A>G) c.514+1214A>G (n.514+1214A>G) n.558A>G c.*63A>G (n.*63A>G) c.3578A>G (p.Lys1193Arg) c.3548A>G (p.Lys1183Arg) c.3674A>G (p.Lys1225Arg) c.2963A>G (p.Lys988Arg) c.3597+675A>G (n.3597+675A>G) c.3547+1214A>G (n.3547+1214A>G) c.2900A>G (p.Lys967Arg) c.2867A>G (p.Lys956Arg) c.3080A>G (p.Lys1027Arg) | |
X | g.53235108T>G | CA413142292 | IQSEC2 | c.3737A>C (p.Lys1246Thr) c.1453+675A>C c.962+675A>C c.316+1214A>C (n.316+1214A>C) c.514+1214A>C (n.514+1214A>C) n.558A>C c.*63A>C (n.*63A>C) c.3578A>C (p.Lys1193Thr) c.3548A>C (p.Lys1183Thr) c.3674A>C (p.Lys1225Thr) c.2963A>C (p.Lys988Thr) c.3597+675A>C (n.3597+675A>C) c.3547+1214A>C (n.3547+1214A>C) c.2900A>C (p.Lys967Thr) c.2867A>C (p.Lys956Thr) c.3080A>C (p.Lys1027Thr) | |
X | g.53235109T>A | CA413142295 | IQSEC2 | c.3736A>T (p.Lys1246Ter) c.1453+674A>T c.962+674A>T c.316+1213A>T (n.316+1213A>T) c.514+1213A>T (n.514+1213A>T) n.557A>T c.*62A>T (n.*62A>T) c.3577A>T (p.Lys1193Ter) c.3547A>T (p.Lys1183Ter) c.3673A>T (p.Lys1225Ter) c.2962A>T (p.Lys988Ter) c.3597+674A>T (n.3597+674A>T) c.3547+1213A>T (n.3547+1213A>T) c.2899A>T (p.Lys967Ter) c.2866A>T (p.Lys956Ter) c.3079A>T (p.Lys1027Ter) | |
X | g.53235109T>C | CA413142299 | IQSEC2 | c.3736A>G (p.Lys1246Glu) c.1453+674A>G c.962+674A>G c.316+1213A>G (n.316+1213A>G) c.514+1213A>G (n.514+1213A>G) n.557A>G c.*62A>G (n.*62A>G) c.3577A>G (p.Lys1193Glu) c.3547A>G (p.Lys1183Glu) c.3673A>G (p.Lys1225Glu) c.2962A>G (p.Lys988Glu) c.3597+674A>G (n.3597+674A>G) c.3547+1213A>G (n.3547+1213A>G) c.2899A>G (p.Lys967Glu) c.2866A>G (p.Lys956Glu) c.3079A>G (p.Lys1027Glu) | |
X | g.53235109T>G | CA413142297 | IQSEC2 | c.3736A>C (p.Lys1246Gln) c.1453+674A>C c.962+674A>C c.316+1213A>C (n.316+1213A>C) c.514+1213A>C (n.514+1213A>C) n.557A>C c.*62A>C (n.*62A>C) c.3577A>C (p.Lys1193Gln) c.3547A>C (p.Lys1183Gln) c.3673A>C (p.Lys1225Gln) c.2962A>C (p.Lys988Gln) c.3597+674A>C (n.3597+674A>C) c.3547+1213A>C (n.3547+1213A>C) c.2899A>C (p.Lys967Gln) c.2866A>C (p.Lys956Gln) c.3079A>C (p.Lys1027Gln) | |
X | g.53235110G>A | CA516673996 | IQSEC2 | c.3735C>T (p.Tyr1245=) c.1453+673C>T c.962+673C>T c.316+1212C>T (n.316+1212C>T) c.514+1212C>T (n.514+1212C>T) n.556C>T c.*61C>T (n.*61C>T) c.3576C>T (p.Tyr1192=) c.3546C>T (p.Tyr1182=) c.3672C>T (p.Tyr1224=) c.2961C>T (p.Tyr987=) c.3597+673C>T (n.3597+673C>T) c.3547+1212C>T (n.3547+1212C>T) c.2898C>T (p.Tyr966=) c.2865C>T (p.Tyr955=) c.3078C>T (p.Tyr1026=) | |
X | g.53235110G>C | CA413142301 | IQSEC2 | c.3735C>G (p.Tyr1245Ter) c.1453+673C>G c.962+673C>G c.316+1212C>G (n.316+1212C>G) c.514+1212C>G (n.514+1212C>G) n.556C>G c.*61C>G (n.*61C>G) c.3576C>G (p.Tyr1192Ter) c.3546C>G (p.Tyr1182Ter) c.3672C>G (p.Tyr1224Ter) c.2961C>G (p.Tyr987Ter) c.3597+673C>G (n.3597+673C>G) c.3547+1212C>G (n.3547+1212C>G) c.2898C>G (p.Tyr966Ter) c.2865C>G (p.Tyr955Ter) c.3078C>G (p.Tyr1026Ter) | |
X | g.53235110G>T | CA413142304 | IQSEC2 | c.3735C>A (p.Tyr1245Ter) c.1453+673C>A c.962+673C>A c.316+1212C>A (n.316+1212C>A) c.514+1212C>A (n.514+1212C>A) n.556C>A c.*61C>A (n.*61C>A) c.3576C>A (p.Tyr1192Ter) c.3546C>A (p.Tyr1182Ter) c.3672C>A (p.Tyr1224Ter) c.2961C>A (p.Tyr987Ter) c.3597+673C>A (n.3597+673C>A) c.3547+1212C>A (n.3547+1212C>A) c.2898C>A (p.Tyr966Ter) c.2865C>A (p.Tyr955Ter) c.3078C>A (p.Tyr1026Ter) | gnomAD v4 |
X | g.53235111T>A | CA413142308 | IQSEC2 | c.3734A>T (p.Tyr1245Phe) c.1453+672A>T c.962+672A>T c.316+1211A>T (n.316+1211A>T) c.514+1211A>T (n.514+1211A>T) n.555A>T c.*60A>T (n.*60A>T) c.3575A>T (p.Tyr1192Phe) c.3545A>T (p.Tyr1182Phe) c.3671A>T (p.Tyr1224Phe) c.2960A>T (p.Tyr987Phe) c.3597+672A>T (n.3597+672A>T) c.3547+1211A>T (n.3547+1211A>T) c.2897A>T (p.Tyr966Phe) c.2864A>T (p.Tyr955Phe) c.3077A>T (p.Tyr1026Phe) | gnomAD v4 |
X | g.53235111T>C | CA413142311 | IQSEC2 | c.3734A>G (p.Tyr1245Cys) c.1453+672A>G c.962+672A>G c.316+1211A>G (n.316+1211A>G) c.514+1211A>G (n.514+1211A>G) n.555A>G c.*60A>G (n.*60A>G) c.3575A>G (p.Tyr1192Cys) c.3545A>G (p.Tyr1182Cys) c.3671A>G (p.Tyr1224Cys) c.2960A>G (p.Tyr987Cys) c.3597+672A>G (n.3597+672A>G) c.3547+1211A>G (n.3547+1211A>G) c.2897A>G (p.Tyr966Cys) c.2864A>G (p.Tyr955Cys) c.3077A>G (p.Tyr1026Cys) | |
X | g.53235111T>G | CA413142314 | IQSEC2 | c.3734A>C (p.Tyr1245Ser) c.1453+672A>C c.962+672A>C c.316+1211A>C (n.316+1211A>C) c.514+1211A>C (n.514+1211A>C) n.555A>C c.*60A>C (n.*60A>C) c.3575A>C (p.Tyr1192Ser) c.3545A>C (p.Tyr1182Ser) c.3671A>C (p.Tyr1224Ser) c.2960A>C (p.Tyr987Ser) c.3597+672A>C (n.3597+672A>C) c.3547+1211A>C (n.3547+1211A>C) c.2897A>C (p.Tyr966Ser) c.2864A>C (p.Tyr955Ser) c.3077A>C (p.Tyr1026Ser) | |
X | g.53235112A= | CA2429770692 | IQSEC2 | c.3733T= (p.Tyr1245=) c.1453+671T= c.962+671T= c.316+1210T= (n.316+1210T=) c.514+1210T= (n.514+1210T=) n.554T= c.*59T= (n.*59T=) c.3574T= (p.Tyr1192=) c.3544T= (p.Tyr1182=) c.3670T= (p.Tyr1224=) c.2959T= (p.Tyr987=) c.3597+671T= (n.3597+671T=) c.3547+1210T= (n.3547+1210T=) c.2896T= (p.Tyr966=) c.2863T= (p.Tyr955=) c.3076T= (p.Tyr1026=) | |
X | g.53235112A>C | CA413142325 | IQSEC2 | c.3733T>G (p.Tyr1245Asp) c.1453+671T>G c.962+671T>G c.316+1210T>G (n.316+1210T>G) c.514+1210T>G (n.514+1210T>G) n.554T>G c.*59T>G (n.*59T>G) c.3574T>G (p.Tyr1192Asp) c.3544T>G (p.Tyr1182Asp) c.3670T>G (p.Tyr1224Asp) c.2959T>G (p.Tyr987Asp) c.3597+671T>G (n.3597+671T>G) c.3547+1210T>G (n.3547+1210T>G) c.2896T>G (p.Tyr966Asp) c.2863T>G (p.Tyr955Asp) c.3076T>G (p.Tyr1026Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235112A>G | CA413142334 | IQSEC2 | c.3733T>C (p.Tyr1245His) c.1453+671T>C c.962+671T>C c.316+1210T>C (n.316+1210T>C) c.514+1210T>C (n.514+1210T>C) n.554T>C c.*59T>C (n.*59T>C) c.3574T>C (p.Tyr1192His) c.3544T>C (p.Tyr1182His) c.3670T>C (p.Tyr1224His) c.2959T>C (p.Tyr987His) c.3597+671T>C (n.3597+671T>C) c.3547+1210T>C (n.3547+1210T>C) c.2896T>C (p.Tyr966His) c.2863T>C (p.Tyr955His) c.3076T>C (p.Tyr1026His) | |
X | g.53235112A>T | CA413142338 | IQSEC2 | c.3733T>A (p.Tyr1245Asn) c.1453+671T>A c.962+671T>A c.316+1210T>A (n.316+1210T>A) c.514+1210T>A (n.514+1210T>A) n.554T>A c.*59T>A (n.*59T>A) c.3574T>A (p.Tyr1192Asn) c.3544T>A (p.Tyr1182Asn) c.3670T>A (p.Tyr1224Asn) c.2959T>A (p.Tyr987Asn) c.3597+671T>A (n.3597+671T>A) c.3547+1210T>A (n.3547+1210T>A) c.2896T>A (p.Tyr966Asn) c.2863T>A (p.Tyr955Asn) c.3076T>A (p.Tyr1026Asn) | dbSNP gnomAD v2 |
X | g.53235113C>A | CA413142346 | IQSEC2 | c.3732G>T (p.Glu1244Asp) c.1453+670G>T c.962+670G>T c.316+1209G>T (n.316+1209G>T) c.514+1209G>T (n.514+1209G>T) n.553G>T c.*58G>T (n.*58G>T) c.3573G>T (p.Glu1191Asp) c.3543G>T (p.Glu1181Asp) c.3669G>T (p.Glu1223Asp) c.2958G>T (p.Glu986Asp) c.3597+670G>T (n.3597+670G>T) c.3547+1209G>T (n.3547+1209G>T) c.2895G>T (p.Glu965Asp) c.2862G>T (p.Glu954Asp) c.3075G>T (p.Glu1025Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235113C= | CA2429770693 | IQSEC2 | c.3732G= (p.Glu1244=) c.1453+670G= c.962+670G= c.316+1209G= (n.316+1209G=) c.514+1209G= (n.514+1209G=) n.553G= c.*58G= (n.*58G=) c.3573G= (p.Glu1191=) c.3543G= (p.Glu1181=) c.3669G= (p.Glu1223=) c.2958G= (p.Glu986=) c.3597+670G= (n.3597+670G=) c.3547+1209G= (n.3547+1209G=) c.2895G= (p.Glu965=) c.2862G= (p.Glu954=) c.3075G= (p.Glu1025=) | |
X | g.53235113C>G | CA413142348 | IQSEC2 | c.3732G>C (p.Glu1244Asp) c.1453+670G>C c.962+670G>C c.316+1209G>C (n.316+1209G>C) c.514+1209G>C (n.514+1209G>C) n.553G>C c.*58G>C (n.*58G>C) c.3573G>C (p.Glu1191Asp) c.3543G>C (p.Glu1181Asp) c.3669G>C (p.Glu1223Asp) c.2958G>C (p.Glu986Asp) c.3597+670G>C (n.3597+670G>C) c.3547+1209G>C (n.3547+1209G>C) c.2895G>C (p.Glu965Asp) c.2862G>C (p.Glu954Asp) c.3075G>C (p.Glu1025Asp) | gnomAD v4 |
X | g.53235113C>T | CA516674001 | IQSEC2 | c.3732G>A (p.Glu1244=) c.1453+670G>A c.962+670G>A c.316+1209G>A (n.316+1209G>A) c.514+1209G>A (n.514+1209G>A) n.553G>A c.*58G>A (n.*58G>A) c.3573G>A (p.Glu1191=) c.3543G>A (p.Glu1181=) c.3669G>A (p.Glu1223=) c.2958G>A (p.Glu986=) c.3597+670G>A (n.3597+670G>A) c.3547+1209G>A (n.3547+1209G>A) c.2895G>A (p.Glu965=) c.2862G>A (p.Glu954=) c.3075G>A (p.Glu1025=) | ClinVar dbSNP gnomAD v4 |
X | g.53235114T>A | CA413142354 | IQSEC2 | c.3731A>T (p.Glu1244Val) c.1453+669A>T c.962+669A>T c.316+1208A>T (n.316+1208A>T) c.514+1208A>T (n.514+1208A>T) n.552A>T c.*57A>T (n.*57A>T) c.3572A>T (p.Glu1191Val) c.3542A>T (p.Glu1181Val) c.3668A>T (p.Glu1223Val) c.2957A>T (p.Glu986Val) c.3597+669A>T (n.3597+669A>T) c.3547+1208A>T (n.3547+1208A>T) c.2894A>T (p.Glu965Val) c.2861A>T (p.Glu954Val) c.3074A>T (p.Glu1025Val) | |
X | g.53235114T>C | CA413142353 | IQSEC2 | c.3731A>G (p.Glu1244Gly) c.1453+669A>G c.962+669A>G c.316+1208A>G (n.316+1208A>G) c.514+1208A>G (n.514+1208A>G) n.552A>G c.*57A>G (n.*57A>G) c.3572A>G (p.Glu1191Gly) c.3542A>G (p.Glu1181Gly) c.3668A>G (p.Glu1223Gly) c.2957A>G (p.Glu986Gly) c.3597+669A>G (n.3597+669A>G) c.3547+1208A>G (n.3547+1208A>G) c.2894A>G (p.Glu965Gly) c.2861A>G (p.Glu954Gly) c.3074A>G (p.Glu1025Gly) | gnomAD v3 gnomAD v4 |
X | g.53235114T>G | CA413142351 | IQSEC2 | c.3731A>C (p.Glu1244Ala) c.1453+669A>C c.962+669A>C c.316+1208A>C (n.316+1208A>C) c.514+1208A>C (n.514+1208A>C) n.552A>C c.*57A>C (n.*57A>C) c.3572A>C (p.Glu1191Ala) c.3542A>C (p.Glu1181Ala) c.3668A>C (p.Glu1223Ala) c.2957A>C (p.Glu986Ala) c.3597+669A>C (n.3597+669A>C) c.3547+1208A>C (n.3547+1208A>C) c.2894A>C (p.Glu965Ala) c.2861A>C (p.Glu954Ala) c.3074A>C (p.Glu1025Ala) | gnomAD v4 |
X | g.53235115C>A | CA413142358 | IQSEC2 | c.3730G>T (p.Glu1244Ter) c.1453+668G>T c.962+668G>T c.316+1207G>T (n.316+1207G>T) c.514+1207G>T (n.514+1207G>T) n.551G>T c.*56G>T (n.*56G>T) c.3571G>T (p.Glu1191Ter) c.3541G>T (p.Glu1181Ter) c.3667G>T (p.Glu1223Ter) c.2956G>T (p.Glu986Ter) c.3597+668G>T (n.3597+668G>T) c.3547+1207G>T (n.3547+1207G>T) c.2893G>T (p.Glu965Ter) c.2860G>T (p.Glu954Ter) c.3073G>T (p.Glu1025Ter) | |
X | g.53235115C>G | CA413142356 | IQSEC2 | c.3730G>C (p.Glu1244Gln) c.1453+668G>C c.962+668G>C c.316+1207G>C (n.316+1207G>C) c.514+1207G>C (n.514+1207G>C) n.551G>C c.*56G>C (n.*56G>C) c.3571G>C (p.Glu1191Gln) c.3541G>C (p.Glu1181Gln) c.3667G>C (p.Glu1223Gln) c.2956G>C (p.Glu986Gln) c.3597+668G>C (n.3597+668G>C) c.3547+1207G>C (n.3547+1207G>C) c.2893G>C (p.Glu965Gln) c.2860G>C (p.Glu954Gln) c.3073G>C (p.Glu1025Gln) | |
X | g.53235115C>T | CA413142357 | IQSEC2 | c.3730G>A (p.Glu1244Lys) c.1453+668G>A c.962+668G>A c.316+1207G>A (n.316+1207G>A) c.514+1207G>A (n.514+1207G>A) n.551G>A c.*56G>A (n.*56G>A) c.3571G>A (p.Glu1191Lys) c.3541G>A (p.Glu1181Lys) c.3667G>A (p.Glu1223Lys) c.2956G>A (p.Glu986Lys) c.3597+668G>A (n.3597+668G>A) c.3547+1207G>A (n.3547+1207G>A) c.2893G>A (p.Glu965Lys) c.2860G>A (p.Glu954Lys) c.3073G>A (p.Glu1025Lys) | |
X | g.53235116C>A | CA413142361 | IQSEC2 | c.3729G>T (p.Glu1243Asp) c.1453+667G>T c.962+667G>T c.316+1206G>T (n.316+1206G>T) c.514+1206G>T (n.514+1206G>T) n.550G>T c.*55G>T (n.*55G>T) c.3570G>T (p.Glu1190Asp) c.3540G>T (p.Glu1180Asp) c.3666G>T (p.Glu1222Asp) c.2955G>T (p.Glu985Asp) c.3597+667G>T (n.3597+667G>T) c.3547+1206G>T (n.3547+1206G>T) c.2892G>T (p.Glu964Asp) c.2859G>T (p.Glu953Asp) c.3072G>T (p.Glu1024Asp) | gnomAD v4 |
X | g.53235116C>G | CA413142362 | IQSEC2 | c.3729G>C (p.Glu1243Asp) c.1453+667G>C c.962+667G>C c.316+1206G>C (n.316+1206G>C) c.514+1206G>C (n.514+1206G>C) n.550G>C c.*55G>C (n.*55G>C) c.3570G>C (p.Glu1190Asp) c.3540G>C (p.Glu1180Asp) c.3666G>C (p.Glu1222Asp) c.2955G>C (p.Glu985Asp) c.3597+667G>C (n.3597+667G>C) c.3547+1206G>C (n.3547+1206G>C) c.2892G>C (p.Glu964Asp) c.2859G>C (p.Glu953Asp) c.3072G>C (p.Glu1024Asp) | gnomAD v4 |
X | g.53235116C>T | CA516674007 | IQSEC2 | c.3729G>A (p.Glu1243=) c.1453+667G>A c.962+667G>A c.316+1206G>A (n.316+1206G>A) c.514+1206G>A (n.514+1206G>A) n.550G>A c.*55G>A (n.*55G>A) c.3570G>A (p.Glu1190=) c.3540G>A (p.Glu1180=) c.3666G>A (p.Glu1222=) c.2955G>A (p.Glu985=) c.3597+667G>A (n.3597+667G>A) c.3547+1206G>A (n.3547+1206G>A) c.2892G>A (p.Glu964=) c.2859G>A (p.Glu953=) c.3072G>A (p.Glu1024=) | ClinVar gnomAD v4 |
X | g.53235118_53235119del | CA2693794405 | IQSEC2 | c.3728_3729del (p.Glu1243GlyfsTer?) c.1453+666_1453+667del c.962+666_962+667del c.316+1205_316+1206del (n.316+1205_316+1206del) c.514+1205_514+1206del (n.514+1205_514+1206del) n.549_550del c.*54_*55del (n.*54_*55del) c.3569_3570del (p.Glu1190GlyfsTer?) c.3539_3540del (p.Glu1180GlyfsTer?) c.3665_3666del (p.Glu1222GlyfsTer?) c.2954_2955del (p.Glu985GlyfsTer?) c.3597+666_3597+667del (n.3597+666_3597+667del) c.3547+1205_3547+1206del (n.3547+1205_3547+1206del) c.2891_2892del (p.Glu964GlyfsTer?) c.2858_2859del (p.Glu953GlyfsTer?) c.3071_3072del (p.Glu1024GlyfsTer?) | gnomAD v4 |
X | g.53235117T>A | CA413142368 | IQSEC2 | c.3728A>T (p.Glu1243Val) c.1453+666A>T c.962+666A>T c.316+1205A>T (n.316+1205A>T) c.514+1205A>T (n.514+1205A>T) n.549A>T c.*54A>T (n.*54A>T) c.3569A>T (p.Glu1190Val) c.3539A>T (p.Glu1180Val) c.3665A>T (p.Glu1222Val) c.2954A>T (p.Glu985Val) c.3597+666A>T (n.3597+666A>T) c.3547+1205A>T (n.3547+1205A>T) c.2891A>T (p.Glu964Val) c.2858A>T (p.Glu953Val) c.3071A>T (p.Glu1024Val) | |
X | g.53235117T>C | CA413142370 | IQSEC2 | c.3728A>G (p.Glu1243Gly) c.1453+666A>G c.962+666A>G c.316+1205A>G (n.316+1205A>G) c.514+1205A>G (n.514+1205A>G) n.549A>G c.*54A>G (n.*54A>G) c.3569A>G (p.Glu1190Gly) c.3539A>G (p.Glu1180Gly) c.3665A>G (p.Glu1222Gly) c.2954A>G (p.Glu985Gly) c.3597+666A>G (n.3597+666A>G) c.3547+1205A>G (n.3547+1205A>G) c.2891A>G (p.Glu964Gly) c.2858A>G (p.Glu953Gly) c.3071A>G (p.Glu1024Gly) | gnomAD v4 |
X | g.53235117T>G | CA413142373 | IQSEC2 | c.3728A>C (p.Glu1243Ala) c.1453+666A>C c.962+666A>C c.316+1205A>C (n.316+1205A>C) c.514+1205A>C (n.514+1205A>C) n.549A>C c.*54A>C (n.*54A>C) c.3569A>C (p.Glu1190Ala) c.3539A>C (p.Glu1180Ala) c.3665A>C (p.Glu1222Ala) c.2954A>C (p.Glu985Ala) c.3597+666A>C (n.3597+666A>C) c.3547+1205A>C (n.3547+1205A>C) c.2891A>C (p.Glu964Ala) c.2858A>C (p.Glu953Ala) c.3071A>C (p.Glu1024Ala) | gnomAD v3 gnomAD v4 |
X | g.53235118del | CA2693794413 | IQSEC2 | c.3727del (p.Glu1243ArgfsTer?) c.1453+665del c.962+665del c.316+1204del (n.316+1204del) c.514+1204del (n.514+1204del) n.548del c.*53del (n.*53del) c.3568del (p.Glu1190ArgfsTer?) c.3538del (p.Glu1180ArgfsTer?) c.3664del (p.Glu1222ArgfsTer?) c.2953del (p.Glu985ArgfsTer?) c.3597+665del (n.3597+665del) c.3547+1204del (n.3547+1204del) c.2890del (p.Glu964ArgfsTer?) c.2857del (p.Glu953ArgfsTer?) c.3070del (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235118C>A | CA413142380 | IQSEC2 | c.3727G>T (p.Glu1243Ter) c.1453+665G>T c.962+665G>T c.316+1204G>T (n.316+1204G>T) c.514+1204G>T (n.514+1204G>T) n.548G>T c.*53G>T (n.*53G>T) c.3568G>T (p.Glu1190Ter) c.3538G>T (p.Glu1180Ter) c.3664G>T (p.Glu1222Ter) c.2953G>T (p.Glu985Ter) c.3597+665G>T (n.3597+665G>T) c.3547+1204G>T (n.3547+1204G>T) c.2890G>T (p.Glu964Ter) c.2857G>T (p.Glu953Ter) c.3070G>T (p.Glu1024Ter) | gnomAD v4 |
X | g.53235118C= | CA2429770694 | IQSEC2 | c.3727G= (p.Glu1243=) c.1453+665G= c.962+665G= c.316+1204G= (n.316+1204G=) c.514+1204G= (n.514+1204G=) n.548G= c.*53G= (n.*53G=) c.3568G= (p.Glu1190=) c.3538G= (p.Glu1180=) c.3664G= (p.Glu1222=) c.2953G= (p.Glu985=) c.3597+665G= (n.3597+665G=) c.3547+1204G= (n.3547+1204G=) c.2890G= (p.Glu964=) c.2857G= (p.Glu953=) c.3070G= (p.Glu1024=) | |
X | g.53235118C>G | CA413142384 | IQSEC2 | c.3727G>C (p.Glu1243Gln) c.1453+665G>C c.962+665G>C c.316+1204G>C (n.316+1204G>C) c.514+1204G>C (n.514+1204G>C) n.548G>C c.*53G>C (n.*53G>C) c.3568G>C (p.Glu1190Gln) c.3538G>C (p.Glu1180Gln) c.3664G>C (p.Glu1222Gln) c.2953G>C (p.Glu985Gln) c.3597+665G>C (n.3597+665G>C) c.3547+1204G>C (n.3547+1204G>C) c.2890G>C (p.Glu964Gln) c.2857G>C (p.Glu953Gln) c.3070G>C (p.Glu1024Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235118C>T | CA413142388 | IQSEC2 | c.3727G>A (p.Glu1243Lys) c.1453+665G>A c.962+665G>A c.316+1204G>A (n.316+1204G>A) c.514+1204G>A (n.514+1204G>A) n.548G>A c.*53G>A (n.*53G>A) c.3568G>A (p.Glu1190Lys) c.3538G>A (p.Glu1180Lys) c.3664G>A (p.Glu1222Lys) c.2953G>A (p.Glu985Lys) c.3597+665G>A (n.3597+665G>A) c.3547+1204G>A (n.3547+1204G>A) c.2890G>A (p.Glu964Lys) c.2857G>A (p.Glu953Lys) c.3070G>A (p.Glu1024Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235118_53235122del | CA2693794416 | IQSEC2 | c.3723_3727del (p.Pro1242GlyfsTer?) c.1453+661_1453+665del c.962+661_962+665del c.316+1200_316+1204del (n.316+1200_316+1204del) c.514+1200_514+1204del (n.514+1200_514+1204del) n.544_548del c.*49_*53del (n.*49_*53del) c.3564_3568del (p.Pro1189GlyfsTer?) c.3534_3538del (p.Pro1179GlyfsTer?) c.3660_3664del (p.Pro1221GlyfsTer?) c.2949_2953del (p.Pro984GlyfsTer?) c.3597+661_3597+665del (n.3597+661_3597+665del) c.3547+1200_3547+1204del (n.3547+1200_3547+1204del) c.2886_2890del (p.Pro963GlyfsTer?) c.2853_2857del (p.Pro952GlyfsTer?) c.3066_3070del (p.Pro1023GlyfsTer?) | gnomAD v4 |
X | g.53235118_53235119insGGG | CA2693794423 | IQSEC2 | c.3726_3727insCCC (p.Pro1242_Glu1243insPro) c.1453+664_1453+665insCCC c.962+664_962+665insCCC c.316+1203_316+1204insCCC (n.316+1203_316+1204insCCC) c.514+1203_514+1204insCCC (n.514+1203_514+1204insCCC) n.547_548insCCC c.*52_*53insCCC (n.*52_*53insCCC) c.3567_3568insCCC (p.Pro1189_Glu1190insPro) c.3537_3538insCCC (p.Pro1179_Glu1180insPro) c.3663_3664insCCC (p.Pro1221_Glu1222insPro) c.2952_2953insCCC (p.Pro984_Glu985insPro) c.3597+664_3597+665insCCC (n.3597+664_3597+665insCCC) c.3547+1203_3547+1204insCCC (n.3547+1203_3547+1204insCCC) c.2889_2890insCCC (p.Pro963_Glu964insPro) c.2856_2857insCCC (p.Pro952_Glu953insPro) c.3069_3070insCCC (p.Pro1023_Glu1024insPro) | gnomAD v4 |
X | g.53235119del | CA2693794424 | IQSEC2 | c.3726del (p.Glu1243ArgfsTer?) c.1453+664del c.962+664del c.316+1203del (n.316+1203del) c.514+1203del (n.514+1203del) n.547del c.*52del (n.*52del) c.3567del (p.Glu1190ArgfsTer?) c.3537del (p.Glu1180ArgfsTer?) c.3663del (p.Glu1222ArgfsTer?) c.2952del (p.Glu985ArgfsTer?) c.3597+664del (n.3597+664del) c.3547+1203del (n.3547+1203del) c.2889del (p.Glu964ArgfsTer?) c.2856del (p.Glu953ArgfsTer?) c.3069del (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235119T>A | CA516674015 | IQSEC2 | c.3726A>T (p.Pro1242=) c.1453+664A>T c.962+664A>T c.316+1203A>T (n.316+1203A>T) c.514+1203A>T (n.514+1203A>T) n.547A>T c.*52A>T (n.*52A>T) c.3567A>T (p.Pro1189=) c.3537A>T (p.Pro1179=) c.3663A>T (p.Pro1221=) c.2952A>T (p.Pro984=) c.3597+664A>T (n.3597+664A>T) c.3547+1203A>T (n.3547+1203A>T) c.2889A>T (p.Pro963=) c.2856A>T (p.Pro952=) c.3069A>T (p.Pro1023=) | gnomAD v4 |
X | g.53235119T>C | CA516674016 | IQSEC2 | c.3726A>G (p.Pro1242=) c.1453+664A>G c.962+664A>G c.316+1203A>G (n.316+1203A>G) c.514+1203A>G (n.514+1203A>G) n.547A>G c.*52A>G (n.*52A>G) c.3567A>G (p.Pro1189=) c.3537A>G (p.Pro1179=) c.3663A>G (p.Pro1221=) c.2952A>G (p.Pro984=) c.3597+664A>G (n.3597+664A>G) c.3547+1203A>G (n.3547+1203A>G) c.2889A>G (p.Pro963=) c.2856A>G (p.Pro952=) c.3069A>G (p.Pro1023=) | gnomAD v2 gnomAD v4 |
X | g.53235119T>G | CA516674017 | IQSEC2 | c.3726A>C (p.Pro1242=) c.1453+664A>C c.962+664A>C c.316+1203A>C (n.316+1203A>C) c.514+1203A>C (n.514+1203A>C) n.547A>C c.*52A>C (n.*52A>C) c.3567A>C (p.Pro1189=) c.3537A>C (p.Pro1179=) c.3663A>C (p.Pro1221=) c.2952A>C (p.Pro984=) c.3597+664A>C (n.3597+664A>C) c.3547+1203A>C (n.3547+1203A>C) c.2889A>C (p.Pro963=) c.2856A>C (p.Pro952=) c.3069A>C (p.Pro1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235119T= | CA2429770695 | IQSEC2 | c.3726A= (p.Pro1242=) c.1453+664A= c.962+664A= c.316+1203A= (n.316+1203A=) c.514+1203A= (n.514+1203A=) n.547A= c.*52A= (n.*52A=) c.3567A= (p.Pro1189=) c.3537A= (p.Pro1179=) c.3663A= (p.Pro1221=) c.2952A= (p.Pro984=) c.3597+664A= (n.3597+664A=) c.3547+1203A= (n.3547+1203A=) c.2889A= (p.Pro963=) c.2856A= (p.Pro952=) c.3069A= (p.Pro1023=) | |
X | g.53235119dup | CA2820950220 | IQSEC2 | c.3726dup (p.Glu1243ArgfsTer?) c.1453+664dup c.962+664dup c.316+1203dup (n.316+1203dup) c.514+1203dup (n.514+1203dup) n.547dup c.*52dup (n.*52dup) c.3567dup (p.Glu1190ArgfsTer?) c.3537dup (p.Glu1180ArgfsTer?) c.3663dup (p.Glu1222ArgfsTer?) c.2952dup (p.Glu985ArgfsTer?) c.3597+664dup (n.3597+664dup) c.3547+1203dup (n.3547+1203dup) c.2889dup (p.Glu964ArgfsTer?) c.2856dup (p.Glu953ArgfsTer?) c.3069dup (p.Glu1024ArgfsTer?) | |
X | g.53235122_53235133del | CA2693794425 | IQSEC2 | c.3715_3726del (p.Pro1239_Pro1242del) c.1453+653_1453+664del c.962+653_962+664del c.316+1192_316+1203del (n.316+1192_316+1203del) c.514+1192_514+1203del (n.514+1192_514+1203del) n.536_547del c.*41_*52del (n.*41_*52del) c.3556_3567del (p.Pro1186_Pro1189del) c.3526_3537del (p.Pro1176_Pro1179del) c.3652_3663del (p.Pro1218_Pro1221del) c.2941_2952del (p.Pro981_Pro984del) c.3597+653_3597+664del (n.3597+653_3597+664del) c.3547+1192_3547+1203del (n.3547+1192_3547+1203del) c.2878_2889del (p.Pro960_Pro963del) c.2845_2856del (p.Pro949_Pro952del) c.3058_3069del (p.Pro1020_Pro1023del) | gnomAD v4 |
X | g.53235119_53235120insTG | CA2429770696 | IQSEC2 | c.3725_3726insCA (p.Glu1243LysfsTer?) c.1453+663_1453+664insCA c.962+663_962+664insCA c.316+1202_316+1203insCA (n.316+1202_316+1203insCA) c.514+1202_514+1203insCA (n.514+1202_514+1203insCA) n.546_547insCA c.*51_*52insCA (n.*51_*52insCA) c.3566_3567insCA (p.Glu1190LysfsTer?) c.3536_3537insCA (p.Glu1180LysfsTer?) c.3662_3663insCA (p.Glu1222LysfsTer?) c.2951_2952insCA (p.Glu985LysfsTer?) c.3597+663_3597+664insCA (n.3597+663_3597+664insCA) c.3547+1202_3547+1203insCA (n.3547+1202_3547+1203insCA) c.2888_2889insCA (p.Glu964LysfsTer?) c.2855_2856insCA (p.Glu953LysfsTer?) c.3068_3069insCA (p.Glu1024LysfsTer?) | dbSNP |
X | g.53235119_53235120insTGG | CA2693794431 | IQSEC2 | c.3725_3726insCCA (p.Pro1242_Glu1243insGln) c.1453+663_1453+664insCCA c.962+663_962+664insCCA c.316+1202_316+1203insCCA (n.316+1202_316+1203insCCA) c.514+1202_514+1203insCCA (n.514+1202_514+1203insCCA) n.546_547insCCA c.*51_*52insCCA (n.*51_*52insCCA) c.3566_3567insCCA (p.Pro1189_Glu1190insGln) c.3536_3537insCCA (p.Pro1179_Glu1180insGln) c.3662_3663insCCA (p.Pro1221_Glu1222insGln) c.2951_2952insCCA (p.Pro984_Glu985insGln) c.3597+663_3597+664insCCA (n.3597+663_3597+664insCCA) c.3547+1202_3547+1203insCCA (n.3547+1202_3547+1203insCCA) c.2888_2889insCCA (p.Pro963_Glu964insGln) c.2855_2856insCCA (p.Pro952_Glu953insGln) c.3068_3069insCCA (p.Pro1023_Glu1024insGln) | gnomAD v4 |
X | g.53235119_53235120insTTG | CA2693794436 | IQSEC2 | c.3725_3726insCAA (p.Pro1242_Glu1243insLys) c.1453+663_1453+664insCAA c.962+663_962+664insCAA c.316+1202_316+1203insCAA (n.316+1202_316+1203insCAA) c.514+1202_514+1203insCAA (n.514+1202_514+1203insCAA) n.546_547insCAA c.*51_*52insCAA (n.*51_*52insCAA) c.3566_3567insCAA (p.Pro1189_Glu1190insLys) c.3536_3537insCAA (p.Pro1179_Glu1180insLys) c.3662_3663insCAA (p.Pro1221_Glu1222insLys) c.2951_2952insCAA (p.Pro984_Glu985insLys) c.3597+663_3597+664insCAA (n.3597+663_3597+664insCAA) c.3547+1202_3547+1203insCAA (n.3547+1202_3547+1203insCAA) c.2888_2889insCAA (p.Pro963_Glu964insLys) c.2855_2856insCAA (p.Pro952_Glu953insLys) c.3068_3069insCAA (p.Pro1023_Glu1024insLys) | gnomAD v4 |
X | g.53235120G>A | CA413142392 | IQSEC2 | c.3725C>T (p.Pro1242Leu) c.1453+663C>T c.962+663C>T c.316+1202C>T (n.316+1202C>T) c.514+1202C>T (n.514+1202C>T) n.546C>T c.*51C>T (n.*51C>T) c.3566C>T (p.Pro1189Leu) c.3536C>T (p.Pro1179Leu) c.3662C>T (p.Pro1221Leu) c.2951C>T (p.Pro984Leu) c.3597+663C>T (n.3597+663C>T) c.3547+1202C>T (n.3547+1202C>T) c.2888C>T (p.Pro963Leu) c.2855C>T (p.Pro952Leu) c.3068C>T (p.Pro1023Leu) | |
X | g.53235120G>C | CA413142397 | IQSEC2 | c.3725C>G (p.Pro1242Arg) c.1453+663C>G c.962+663C>G c.316+1202C>G (n.316+1202C>G) c.514+1202C>G (n.514+1202C>G) n.546C>G c.*51C>G (n.*51C>G) c.3566C>G (p.Pro1189Arg) c.3536C>G (p.Pro1179Arg) c.3662C>G (p.Pro1221Arg) c.2951C>G (p.Pro984Arg) c.3597+663C>G (n.3597+663C>G) c.3547+1202C>G (n.3547+1202C>G) c.2888C>G (p.Pro963Arg) c.2855C>G (p.Pro952Arg) c.3068C>G (p.Pro1023Arg) | |
X | g.53235120G>T | CA413142400 | IQSEC2 | c.3725C>A (p.Pro1242Gln) c.1453+663C>A c.962+663C>A c.316+1202C>A (n.316+1202C>A) c.514+1202C>A (n.514+1202C>A) n.546C>A c.*51C>A (n.*51C>A) c.3566C>A (p.Pro1189Gln) c.3536C>A (p.Pro1179Gln) c.3662C>A (p.Pro1221Gln) c.2951C>A (p.Pro984Gln) c.3597+663C>A (n.3597+663C>A) c.3547+1202C>A (n.3547+1202C>A) c.2888C>A (p.Pro963Gln) c.2855C>A (p.Pro952Gln) c.3068C>A (p.Pro1023Gln) | gnomAD v4 |
X | g.53235121_53235122insGGG | CA641903966 | IQSEC2 | c.3725_3726insCCC (p.Pro1242_Glu1243insPro) c.1453+663_1453+664insCCC c.962+663_962+664insCCC c.316+1202_316+1203insCCC (n.316+1202_316+1203insCCC) c.514+1202_514+1203insCCC (n.514+1202_514+1203insCCC) n.546_547insCCC c.*51_*52insCCC (n.*51_*52insCCC) c.3566_3567insCCC (p.Pro1189_Glu1190insPro) c.3536_3537insCCC (p.Pro1179_Glu1180insPro) c.3662_3663insCCC (p.Pro1221_Glu1222insPro) c.2951_2952insCCC (p.Pro984_Glu985insPro) c.3597+663_3597+664insCCC (n.3597+663_3597+664insCCC) c.3547+1202_3547+1203insCCC (n.3547+1202_3547+1203insCCC) c.2888_2889insCCC (p.Pro963_Glu964insPro) c.2855_2856insCCC (p.Pro952_Glu953insPro) c.3068_3069insCCC (p.Pro1023_Glu1024insPro) | gnomAD v2 gnomAD v4 |
X | g.53235121_53235122insGGGGG | CA2693794440 | IQSEC2 | c.3725_3726insCCCCC (p.Glu1243ProfsTer?) c.1453+663_1453+664insCCCCC c.962+663_962+664insCCCCC c.316+1202_316+1203insCCCCC (n.316+1202_316+1203insCCCCC) c.514+1202_514+1203insCCCCC (n.514+1202_514+1203insCCCCC) n.546_547insCCCCC c.*51_*52insCCCCC (n.*51_*52insCCCCC) c.3566_3567insCCCCC (p.Glu1190ProfsTer?) c.3536_3537insCCCCC (p.Glu1180ProfsTer?) c.3662_3663insCCCCC (p.Glu1222ProfsTer?) c.2951_2952insCCCCC (p.Glu985ProfsTer?) c.3597+663_3597+664insCCCCC (n.3597+663_3597+664insCCCCC) c.3547+1202_3547+1203insCCCCC (n.3547+1202_3547+1203insCCCCC) c.2888_2889insCCCCC (p.Glu964ProfsTer?) c.2855_2856insCCCCC (p.Glu953ProfsTer?) c.3068_3069insCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235121_53235122insGGGGGGGGGG | CA2693794439 | IQSEC2 | c.3725_3726insCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+663_1453+664insCCCCCCCCCC c.962+663_962+664insCCCCCCCCCC c.316+1202_316+1203insCCCCCCCCCC (n.316+1202_316+1203insCCCCCCCCCC) c.514+1202_514+1203insCCCCCCCCCC (n.514+1202_514+1203insCCCCCCCCCC) n.546_547insCCCCCCCCCC c.*51_*52insCCCCCCCCCC (n.*51_*52insCCCCCCCCCC) c.3566_3567insCCCCCCCCCC (p.Glu1190ProfsTer?) c.3536_3537insCCCCCCCCCC (p.Glu1180ProfsTer?) c.3662_3663insCCCCCCCCCC (p.Glu1222ProfsTer?) c.2951_2952insCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+663_3597+664insCCCCCCCCCC (n.3597+663_3597+664insCCCCCCCCCC) c.3547+1202_3547+1203insCCCCCCCCCC (n.3547+1202_3547+1203insCCCCCCCCCC) c.2888_2889insCCCCCCCCCC (p.Glu964ProfsTer?) c.2855_2856insCCCCCCCCCC (p.Glu953ProfsTer?) c.3068_3069insCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235121_53235122insAGGAGGGGGGGG | CA2693794443 | IQSEC2 | c.3725_3726insCCCCCCTCCTCC (p.Pro1242_Glu1243insProProProPro) c.1453+663_1453+664insCCCCCCTCCTCC c.962+663_962+664insCCCCCCTCCTCC c.316+1202_316+1203insCCCCCCTCCTCC (n.316+1202_316+1203insCCCCCCTCCTCC) c.514+1202_514+1203insCCCCCCTCCTCC (n.514+1202_514+1203insCCCCCCTCCTCC) n.546_547insCCCCCCTCCTCC c.*51_*52insCCCCCCTCCTCC (n.*51_*52insCCCCCCTCCTCC) c.3566_3567insCCCCCCTCCTCC (p.Pro1189_Glu1190insProProProPro) c.3536_3537insCCCCCCTCCTCC (p.Pro1179_Glu1180insProProProPro) c.3662_3663insCCCCCCTCCTCC (p.Pro1221_Glu1222insProProProPro) c.2951_2952insCCCCCCTCCTCC (p.Pro984_Glu985insProProProPro) c.3597+663_3597+664insCCCCCCTCCTCC (n.3597+663_3597+664insCCCCCCTCCTCC) c.3547+1202_3547+1203insCCCCCCTCCTCC (n.3547+1202_3547+1203insCCCCCCTCCTCC) c.2888_2889insCCCCCCTCCTCC (p.Pro963_Glu964insProProProPro) c.2855_2856insCCCCCCTCCTCC (p.Pro952_Glu953insProProProPro) c.3068_3069insCCCCCCTCCTCC (p.Pro1023_Glu1024insProProProPro) | gnomAD v4 |
X | g.53235121dup | CA641903965 | IQSEC2 | c.3725dup (p.Glu1243ArgfsTer?) c.1453+663dup c.962+663dup c.316+1202dup (n.316+1202dup) c.514+1202dup (n.514+1202dup) n.546dup c.*51dup (n.*51dup) c.3566dup (p.Glu1190ArgfsTer?) c.3536dup (p.Glu1180ArgfsTer?) c.3662dup (p.Glu1222ArgfsTer?) c.2951dup (p.Glu985ArgfsTer?) c.3597+663dup (n.3597+663dup) c.3547+1202dup (n.3547+1202dup) c.2888dup (p.Glu964ArgfsTer?) c.2855dup (p.Glu953ArgfsTer?) c.3068dup (p.Glu1024ArgfsTer?) | gnomAD v2 gnomAD v4 |
X | g.53235120_53235121dup | CA641903967 | IQSEC2 | c.3724_3725dup (p.Glu1243GlnfsTer?) c.1453+662_1453+663dup c.962+662_962+663dup c.316+1201_316+1202dup (n.316+1201_316+1202dup) c.514+1201_514+1202dup (n.514+1201_514+1202dup) n.545_546dup c.*50_*51dup (n.*50_*51dup) c.3565_3566dup (p.Glu1190GlnfsTer?) c.3535_3536dup (p.Glu1180GlnfsTer?) c.3661_3662dup (p.Glu1222GlnfsTer?) c.2950_2951dup (p.Glu985GlnfsTer?) c.3597+662_3597+663dup (n.3597+662_3597+663dup) c.3547+1201_3547+1202dup (n.3547+1201_3547+1202dup) c.2887_2888dup (p.Glu964GlnfsTer?) c.2854_2855dup (p.Glu953GlnfsTer?) c.3067_3068dup (p.Glu1024GlnfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235125_53235139del | CA2693794435 | IQSEC2 | c.3711_3725del (p.Pro1238_Pro1242del) c.1453+649_1453+663del c.962+649_962+663del c.316+1188_316+1202del (n.316+1188_316+1202del) c.514+1188_514+1202del (n.514+1188_514+1202del) n.532_546del c.*37_*51del (n.*37_*51del) c.3552_3566del (p.Pro1185_Pro1189del) c.3522_3536del (p.Pro1175_Pro1179del) c.3648_3662del (p.Pro1217_Pro1221del) c.2937_2951del (p.Pro980_Pro984del) c.3597+649_3597+663del (n.3597+649_3597+663del) c.3547+1188_3547+1202del (n.3547+1188_3547+1202del) c.2874_2888del (p.Pro959_Pro963del) c.2841_2855del (p.Pro948_Pro952del) c.3054_3068del (p.Pro1019_Pro1023del) | gnomAD v4 |
X | g.53235121G>A | CA413142419 | IQSEC2 | c.3724C>T (p.Pro1242Ser) c.1453+662C>T c.962+662C>T c.316+1201C>T (n.316+1201C>T) c.514+1201C>T (n.514+1201C>T) n.545C>T c.*50C>T (n.*50C>T) c.3565C>T (p.Pro1189Ser) c.3535C>T (p.Pro1179Ser) c.3661C>T (p.Pro1221Ser) c.2950C>T (p.Pro984Ser) c.3597+662C>T (n.3597+662C>T) c.3547+1201C>T (n.3547+1201C>T) c.2887C>T (p.Pro963Ser) c.2854C>T (p.Pro952Ser) c.3067C>T (p.Pro1023Ser) | |
X | g.53235121G>C | CA413142412 | IQSEC2 | c.3724C>G (p.Pro1242Ala) c.1453+662C>G c.962+662C>G c.316+1201C>G (n.316+1201C>G) c.514+1201C>G (n.514+1201C>G) n.545C>G c.*50C>G (n.*50C>G) c.3565C>G (p.Pro1189Ala) c.3535C>G (p.Pro1179Ala) c.3661C>G (p.Pro1221Ala) c.2950C>G (p.Pro984Ala) c.3597+662C>G (n.3597+662C>G) c.3547+1201C>G (n.3547+1201C>G) c.2887C>G (p.Pro963Ala) c.2854C>G (p.Pro952Ala) c.3067C>G (p.Pro1023Ala) | |
X | g.53235121G>T | CA413142415 | IQSEC2 | c.3724C>A (p.Pro1242Thr) c.1453+662C>A c.962+662C>A c.316+1201C>A (n.316+1201C>A) c.514+1201C>A (n.514+1201C>A) n.545C>A c.*50C>A (n.*50C>A) c.3565C>A (p.Pro1189Thr) c.3535C>A (p.Pro1179Thr) c.3661C>A (p.Pro1221Thr) c.2950C>A (p.Pro984Thr) c.3597+662C>A (n.3597+662C>A) c.3547+1201C>A (n.3547+1201C>A) c.2887C>A (p.Pro963Thr) c.2854C>A (p.Pro952Thr) c.3067C>A (p.Pro1023Thr) | |
X | g.53235121_53235122delinsGC | CA2429770697 | IQSEC2 | c.3723_3724delinsGC (p.Pro1241=) c.1453+661_1453+662delinsGC c.962+661_962+662delinsGC c.316+1200_316+1201delinsGC (n.316+1200_316+1201delinsGC) c.514+1200_514+1201delinsGC (n.514+1200_514+1201delinsGC) n.544_545delinsGC c.*49_*50delinsGC (n.*49_*50delinsGC) c.3564_3565delinsGC (p.Pro1188=) c.3534_3535delinsGC (p.Pro1178=) c.3660_3661delinsGC (p.Pro1220=) c.2949_2950delinsGC (p.Pro983=) c.3597+661_3597+662delinsGC (n.3597+661_3597+662delinsGC) c.3547+1200_3547+1201delinsGC (n.3547+1200_3547+1201delinsGC) c.2886_2887delinsGC (p.Pro962=) c.2853_2854delinsGC (p.Pro951=) c.3066_3067delinsGC (p.Pro1022=) | |
X | g.53235122del | CA641903968 | IQSEC2 | c.3723del (p.Pro1242GlnfsTer?) c.1453+661del c.962+661del c.316+1200del (n.316+1200del) c.514+1200del (n.514+1200del) n.544del c.*49del (n.*49del) c.3564del (p.Pro1189GlnfsTer?) c.3534del (p.Pro1179GlnfsTer?) c.3660del (p.Pro1221GlnfsTer?) c.2949del (p.Pro984GlnfsTer?) c.3597+661del (n.3597+661del) c.3547+1200del (n.3547+1200del) c.2886del (p.Pro963GlnfsTer?) c.2853del (p.Pro952GlnfsTer?) c.3066del (p.Pro1023GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235122C>A | CA516674025 | IQSEC2 | c.3723G>T (p.Pro1241=) c.1453+661G>T c.962+661G>T c.316+1200G>T (n.316+1200G>T) c.514+1200G>T (n.514+1200G>T) n.544G>T c.*49G>T (n.*49G>T) c.3564G>T (p.Pro1188=) c.3534G>T (p.Pro1178=) c.3660G>T (p.Pro1220=) c.2949G>T (p.Pro983=) c.3597+661G>T (n.3597+661G>T) c.3547+1200G>T (n.3547+1200G>T) c.2886G>T (p.Pro962=) c.2853G>T (p.Pro951=) c.3066G>T (p.Pro1022=) | gnomAD v4 |
X | g.53235122C= | CA2429770698 | IQSEC2 | c.3723G= (p.Pro1241=) c.1453+661G= c.962+661G= c.316+1200G= (n.316+1200G=) c.514+1200G= (n.514+1200G=) n.544G= c.*49G= (n.*49G=) c.3564G= (p.Pro1188=) c.3534G= (p.Pro1178=) c.3660G= (p.Pro1220=) c.2949G= (p.Pro983=) c.3597+661G= (n.3597+661G=) c.3547+1200G= (n.3547+1200G=) c.2886G= (p.Pro962=) c.2853G= (p.Pro951=) c.3066G= (p.Pro1022=) | |
X | g.53235122C>G | CA516674024 | IQSEC2 | c.3723G>C (p.Pro1241=) c.1453+661G>C c.962+661G>C c.316+1200G>C (n.316+1200G>C) c.514+1200G>C (n.514+1200G>C) n.544G>C c.*49G>C (n.*49G>C) c.3564G>C (p.Pro1188=) c.3534G>C (p.Pro1178=) c.3660G>C (p.Pro1220=) c.2949G>C (p.Pro983=) c.3597+661G>C (n.3597+661G>C) c.3547+1200G>C (n.3547+1200G>C) c.2886G>C (p.Pro962=) c.2853G>C (p.Pro951=) c.3066G>C (p.Pro1022=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235122C>T | CA516674023 | IQSEC2 | c.3723G>A (p.Pro1241=) c.1453+661G>A c.962+661G>A c.316+1200G>A (n.316+1200G>A) c.514+1200G>A (n.514+1200G>A) n.544G>A c.*49G>A (n.*49G>A) c.3564G>A (p.Pro1188=) c.3534G>A (p.Pro1178=) c.3660G>A (p.Pro1220=) c.2949G>A (p.Pro983=) c.3597+661G>A (n.3597+661G>A) c.3547+1200G>A (n.3547+1200G>A) c.2886G>A (p.Pro962=) c.2853G>A (p.Pro951=) c.3066G>A (p.Pro1022=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235123G>A | CA413142423 | IQSEC2 | c.3722C>T (p.Pro1241Leu) c.1453+660C>T c.962+660C>T c.316+1199C>T (n.316+1199C>T) c.514+1199C>T (n.514+1199C>T) n.543C>T c.*48C>T (n.*48C>T) c.3563C>T (p.Pro1188Leu) c.3533C>T (p.Pro1178Leu) c.3659C>T (p.Pro1220Leu) c.2948C>T (p.Pro983Leu) c.3597+660C>T (n.3597+660C>T) c.3547+1199C>T (n.3547+1199C>T) c.2885C>T (p.Pro962Leu) c.2852C>T (p.Pro951Leu) c.3065C>T (p.Pro1022Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235123G>C | CA413142427 | IQSEC2 | c.3722C>G (p.Pro1241Arg) c.1453+660C>G c.962+660C>G c.316+1199C>G (n.316+1199C>G) c.514+1199C>G (n.514+1199C>G) n.543C>G c.*48C>G (n.*48C>G) c.3563C>G (p.Pro1188Arg) c.3533C>G (p.Pro1178Arg) c.3659C>G (p.Pro1220Arg) c.2948C>G (p.Pro983Arg) c.3597+660C>G (n.3597+660C>G) c.3547+1199C>G (n.3547+1199C>G) c.2885C>G (p.Pro962Arg) c.2852C>G (p.Pro951Arg) c.3065C>G (p.Pro1022Arg) | |
X | g.53235123G= | CA2429770699 | IQSEC2 | c.3722C= (p.Pro1241=) c.1453+660C= c.962+660C= c.316+1199C= (n.316+1199C=) c.514+1199C= (n.514+1199C=) n.543C= c.*48C= (n.*48C=) c.3563C= (p.Pro1188=) c.3533C= (p.Pro1178=) c.3659C= (p.Pro1220=) c.2948C= (p.Pro983=) c.3597+660C= (n.3597+660C=) c.3547+1199C= (n.3547+1199C=) c.2885C= (p.Pro962=) c.2852C= (p.Pro951=) c.3065C= (p.Pro1022=) | |
X | g.53235123G>T | CA413142428 | IQSEC2 | c.3722C>A (p.Pro1241Gln) c.1453+660C>A c.962+660C>A c.316+1199C>A (n.316+1199C>A) c.514+1199C>A (n.514+1199C>A) n.543C>A c.*48C>A (n.*48C>A) c.3563C>A (p.Pro1188Gln) c.3533C>A (p.Pro1178Gln) c.3659C>A (p.Pro1220Gln) c.2948C>A (p.Pro983Gln) c.3597+660C>A (n.3597+660C>A) c.3547+1199C>A (n.3547+1199C>A) c.2885C>A (p.Pro962Gln) c.2852C>A (p.Pro951Gln) c.3065C>A (p.Pro1022Gln) | gnomAD v4 |
X | g.53235124_53235125insGGG | CA2693794480 | IQSEC2 | c.3722_3723insCCC (p.Pro1241_Pro1242insPro) c.1453+660_1453+661insCCC c.962+660_962+661insCCC c.316+1199_316+1200insCCC (n.316+1199_316+1200insCCC) c.514+1199_514+1200insCCC (n.514+1199_514+1200insCCC) n.543_544insCCC c.*48_*49insCCC (n.*48_*49insCCC) c.3563_3564insCCC (p.Pro1188_Pro1189insPro) c.3533_3534insCCC (p.Pro1178_Pro1179insPro) c.3659_3660insCCC (p.Pro1220_Pro1221insPro) c.2948_2949insCCC (p.Pro983_Pro984insPro) c.3597+660_3597+661insCCC (n.3597+660_3597+661insCCC) c.3547+1199_3547+1200insCCC (n.3547+1199_3547+1200insCCC) c.2885_2886insCCC (p.Pro962_Pro963insPro) c.2852_2853insCCC (p.Pro951_Pro952insPro) c.3065_3066insCCC (p.Pro1022_Pro1023insPro) | gnomAD v4 |
X | g.53235124_53235125insGGGG | CA641903971 | IQSEC2 | c.3722_3723insCCCC (p.Glu1243AlafsTer?) c.1453+660_1453+661insCCCC c.962+660_962+661insCCCC c.316+1199_316+1200insCCCC (n.316+1199_316+1200insCCCC) c.514+1199_514+1200insCCCC (n.514+1199_514+1200insCCCC) n.543_544insCCCC c.*48_*49insCCCC (n.*48_*49insCCCC) c.3563_3564insCCCC (p.Glu1190AlafsTer?) c.3533_3534insCCCC (p.Glu1180AlafsTer?) c.3659_3660insCCCC (p.Glu1222AlafsTer?) c.2948_2949insCCCC (p.Glu985AlafsTer?) c.3597+660_3597+661insCCCC (n.3597+660_3597+661insCCCC) c.3547+1199_3547+1200insCCCC (n.3547+1199_3547+1200insCCCC) c.2885_2886insCCCC (p.Glu964AlafsTer?) c.2852_2853insCCCC (p.Glu953AlafsTer?) c.3065_3066insCCCC (p.Glu1024AlafsTer?) | gnomAD v2 gnomAD v4 |
X | g.53235124_53235125insGGGGGG | CA641903972 | IQSEC2 | c.3722_3723insCCCCCC (p.Pro1241_Pro1242insProPro) c.1453+660_1453+661insCCCCCC c.962+660_962+661insCCCCCC c.316+1199_316+1200insCCCCCC (n.316+1199_316+1200insCCCCCC) c.514+1199_514+1200insCCCCCC (n.514+1199_514+1200insCCCCCC) n.543_544insCCCCCC c.*48_*49insCCCCCC (n.*48_*49insCCCCCC) c.3563_3564insCCCCCC (p.Pro1188_Pro1189insProPro) c.3533_3534insCCCCCC (p.Pro1178_Pro1179insProPro) c.3659_3660insCCCCCC (p.Pro1220_Pro1221insProPro) c.2948_2949insCCCCCC (p.Pro983_Pro984insProPro) c.3597+660_3597+661insCCCCCC (n.3597+660_3597+661insCCCCCC) c.3547+1199_3547+1200insCCCCCC (n.3547+1199_3547+1200insCCCCCC) c.2885_2886insCCCCCC (p.Pro962_Pro963insProPro) c.2852_2853insCCCCCC (p.Pro951_Pro952insProPro) c.3065_3066insCCCCCC (p.Pro1022_Pro1023insProPro) | gnomAD v2 gnomAD v4 |
X | g.53235124_53235125insGGGGGGG | CA2693794476 | IQSEC2 | c.3722_3723insCCCCCCC (p.Glu1243ProfsTer?) c.1453+660_1453+661insCCCCCCC c.962+660_962+661insCCCCCCC c.316+1199_316+1200insCCCCCCC (n.316+1199_316+1200insCCCCCCC) c.514+1199_514+1200insCCCCCCC (n.514+1199_514+1200insCCCCCCC) n.543_544insCCCCCCC c.*48_*49insCCCCCCC (n.*48_*49insCCCCCCC) c.3563_3564insCCCCCCC (p.Glu1190ProfsTer?) c.3533_3534insCCCCCCC (p.Glu1180ProfsTer?) c.3659_3660insCCCCCCC (p.Glu1222ProfsTer?) c.2948_2949insCCCCCCC (p.Glu985ProfsTer?) c.3597+660_3597+661insCCCCCCC (n.3597+660_3597+661insCCCCCCC) c.3547+1199_3547+1200insCCCCCCC (n.3547+1199_3547+1200insCCCCCCC) c.2885_2886insCCCCCCC (p.Glu964ProfsTer?) c.2852_2853insCCCCCCC (p.Glu953ProfsTer?) c.3065_3066insCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235124_53235125insGGGGGGGGG | CA2693794474 | IQSEC2 | c.3722_3723insCCCCCCCCC (p.Pro1241_Pro1242insProProPro) c.1453+660_1453+661insCCCCCCCCC c.962+660_962+661insCCCCCCCCC c.316+1199_316+1200insCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCC) c.514+1199_514+1200insCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCC) n.543_544insCCCCCCCCC c.*48_*49insCCCCCCCCC (n.*48_*49insCCCCCCCCC) c.3563_3564insCCCCCCCCC (p.Pro1188_Pro1189insProProPro) c.3533_3534insCCCCCCCCC (p.Pro1178_Pro1179insProProPro) c.3659_3660insCCCCCCCCC (p.Pro1220_Pro1221insProProPro) c.2948_2949insCCCCCCCCC (p.Pro983_Pro984insProProPro) c.3597+660_3597+661insCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCC) c.3547+1199_3547+1200insCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCC) c.2885_2886insCCCCCCCCC (p.Pro962_Pro963insProProPro) c.2852_2853insCCCCCCCCC (p.Pro951_Pro952insProProPro) c.3065_3066insCCCCCCCCC (p.Pro1022_Pro1023insProProPro) | gnomAD v4 |
X | g.53235124_53235125insGGGGGGGGGGGG | CA2693794471 | IQSEC2 | c.3722_3723insCCCCCCCCCCCC (p.Pro1241_Pro1242insProProProPro) c.1453+660_1453+661insCCCCCCCCCCCC c.962+660_962+661insCCCCCCCCCCCC c.316+1199_316+1200insCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCC) c.514+1199_514+1200insCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCC) n.543_544insCCCCCCCCCCCC c.*48_*49insCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCC) c.3563_3564insCCCCCCCCCCCC (p.Pro1188_Pro1189insProProProPro) c.3533_3534insCCCCCCCCCCCC (p.Pro1178_Pro1179insProProProPro) c.3659_3660insCCCCCCCCCCCC (p.Pro1220_Pro1221insProProProPro) c.2948_2949insCCCCCCCCCCCC (p.Pro983_Pro984insProProProPro) c.3597+660_3597+661insCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCC) c.3547+1199_3547+1200insCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCC) c.2885_2886insCCCCCCCCCCCC (p.Pro962_Pro963insProProProPro) c.2852_2853insCCCCCCCCCCCC (p.Pro951_Pro952insProProProPro) c.3065_3066insCCCCCCCCCCCC (p.Pro1022_Pro1023insProProProPro) | gnomAD v4 |
X | g.53235124_53235125insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2693794464 | IQSEC2 | c.3722_3723insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+660_1453+661insCCCCCCCCCCCCCCCCCCCCCCCCC c.962+660_962+661insCCCCCCCCCCCCCCCCCCCCCCCCC c.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC) c.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC) n.543_544insCCCCCCCCCCCCCCCCCCCCCCCCC c.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC) c.3563_3564insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3533_3534insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3659_3660insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2948_2949insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC) c.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC) c.2885_2886insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2852_2853insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3065_3066insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235126_53235127insTGGGGGGGGGCG | CA2693794482 | IQSEC2 | c.3722_3723insCCCCCCCACGCC (p.Pro1241_Pro1242insProProThrPro) c.1453+660_1453+661insCCCCCCCACGCC c.962+660_962+661insCCCCCCCACGCC c.316+1199_316+1200insCCCCCCCACGCC (n.316+1199_316+1200insCCCCCCCACGCC) c.514+1199_514+1200insCCCCCCCACGCC (n.514+1199_514+1200insCCCCCCCACGCC) n.543_544insCCCCCCCACGCC c.*48_*49insCCCCCCCACGCC (n.*48_*49insCCCCCCCACGCC) c.3563_3564insCCCCCCCACGCC (p.Pro1188_Pro1189insProProThrPro) c.3533_3534insCCCCCCCACGCC (p.Pro1178_Pro1179insProProThrPro) c.3659_3660insCCCCCCCACGCC (p.Pro1220_Pro1221insProProThrPro) c.2948_2949insCCCCCCCACGCC (p.Pro983_Pro984insProProThrPro) c.3597+660_3597+661insCCCCCCCACGCC (n.3597+660_3597+661insCCCCCCCACGCC) c.3547+1199_3547+1200insCCCCCCCACGCC (n.3547+1199_3547+1200insCCCCCCCACGCC) c.2885_2886insCCCCCCCACGCC (p.Pro962_Pro963insProProThrPro) c.2852_2853insCCCCCCCACGCC (p.Pro951_Pro952insProProThrPro) c.3065_3066insCCCCCCCACGCC (p.Pro1022_Pro1023insProProThrPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGGCGGGGG | CA641903970 | IQSEC2 | c.3722_3723insCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProPro) c.1453+660_1453+661insCCCCCCCCCGCC c.962+660_962+661insCCCCCCCCCGCC c.316+1199_316+1200insCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCGCC) c.514+1199_514+1200insCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCGCC) n.543_544insCCCCCCCCCGCC c.*48_*49insCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCGCC) c.3563_3564insCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProPro) c.3533_3534insCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProPro) c.3659_3660insCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProPro) c.2948_2949insCCCCCCCCCGCC (p.Pro983_Pro984insProProProPro) c.3597+660_3597+661insCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCGCC) c.3547+1199_3547+1200insCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCGCC) c.2885_2886insCCCCCCCCCGCC (p.Pro962_Pro963insProProProPro) c.2852_2853insCCCCCCCCCGCC (p.Pro951_Pro952insProProProPro) c.3065_3066insCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGGCGGGGG | CA2820950238 | IQSEC2 | c.3722_3723insCCCCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProProPro) c.1453+660_1453+661insCCCCCCCCCCCCGCC c.962+660_962+661insCCCCCCCCCCCCGCC c.316+1199_316+1200insCCCCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCCCCGCC) c.514+1199_514+1200insCCCCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCCCCGCC) n.543_544insCCCCCCCCCCCCGCC c.*48_*49insCCCCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCCCCGCC) c.3563_3564insCCCCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProProPro) c.3533_3534insCCCCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProProPro) c.3659_3660insCCCCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProProPro) c.2948_2949insCCCCCCCCCCCCGCC (p.Pro983_Pro984insProProProProPro) c.3597+660_3597+661insCCCCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCCCCGCC) c.3547+1199_3547+1200insCCCCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCCCCGCC) c.2885_2886insCCCCCCCCCCCCGCC (p.Pro962_Pro963insProProProProPro) c.2852_2853insCCCCCCCCCCCCGCC (p.Pro951_Pro952insProProProProPro) c.3065_3066insCCCCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProProPro) | |
X | g.53235125_53235130dup | CA641903969 | IQSEC2 | c.3717_3722dup (p.Pro1241_Pro1242insProPro) c.1453+655_1453+660dup c.962+655_962+660dup c.316+1194_316+1199dup (n.316+1194_316+1199dup) c.514+1194_514+1199dup (n.514+1194_514+1199dup) n.538_543dup c.*43_*48dup (n.*43_*48dup) c.3558_3563dup (p.Pro1188_Pro1189insProPro) c.3528_3533dup (p.Pro1178_Pro1179insProPro) c.3654_3659dup (p.Pro1220_Pro1221insProPro) c.2943_2948dup (p.Pro983_Pro984insProPro) c.3597+655_3597+660dup (n.3597+655_3597+660dup) c.3547+1194_3547+1199dup (n.3547+1194_3547+1199dup) c.2880_2885dup (p.Pro962_Pro963insProPro) c.2847_2852dup (p.Pro951_Pro952insProPro) c.3060_3065dup (p.Pro1022_Pro1023insProPro) | gnomAD v2 |
X | g.53235128_53235139del | CA2579614738 | IQSEC2 | c.3711_3722del (p.Pro1238_Pro1241del) c.1453+649_1453+660del c.962+649_962+660del c.316+1188_316+1199del (n.316+1188_316+1199del) c.514+1188_514+1199del (n.514+1188_514+1199del) n.532_543del c.*37_*48del (n.*37_*48del) c.3552_3563del (p.Pro1185_Pro1188del) c.3522_3533del (p.Pro1175_Pro1178del) c.3648_3659del (p.Pro1217_Pro1220del) c.2937_2948del (p.Pro980_Pro983del) c.3597+649_3597+660del (n.3597+649_3597+660del) c.3547+1188_3547+1199del (n.3547+1188_3547+1199del) c.2874_2885del (p.Pro959_Pro962del) c.2841_2852del (p.Pro948_Pro951del) c.3054_3065del (p.Pro1019_Pro1022del) | gnomAD v4 |
X | g.53235124G>A | CA413142434 | IQSEC2 | c.3721C>T (p.Pro1241Ser) c.1453+659C>T c.962+659C>T c.316+1198C>T (n.316+1198C>T) c.514+1198C>T (n.514+1198C>T) n.542C>T c.*47C>T (n.*47C>T) c.3562C>T (p.Pro1188Ser) c.3532C>T (p.Pro1178Ser) c.3658C>T (p.Pro1220Ser) c.2947C>T (p.Pro983Ser) c.3597+659C>T (n.3597+659C>T) c.3547+1198C>T (n.3547+1198C>T) c.2884C>T (p.Pro962Ser) c.2851C>T (p.Pro951Ser) c.3064C>T (p.Pro1022Ser) | gnomAD v4 |
X | g.53235124G>C | CA413142435 | IQSEC2 | c.3721C>G (p.Pro1241Ala) c.1453+659C>G c.962+659C>G c.316+1198C>G (n.316+1198C>G) c.514+1198C>G (n.514+1198C>G) n.542C>G c.*47C>G (n.*47C>G) c.3562C>G (p.Pro1188Ala) c.3532C>G (p.Pro1178Ala) c.3658C>G (p.Pro1220Ala) c.2947C>G (p.Pro983Ala) c.3597+659C>G (n.3597+659C>G) c.3547+1198C>G (n.3547+1198C>G) c.2884C>G (p.Pro962Ala) c.2851C>G (p.Pro951Ala) c.3064C>G (p.Pro1022Ala) | |
X | g.53235124G>T | CA413142440 | IQSEC2 | c.3721C>A (p.Pro1241Thr) c.1453+659C>A c.962+659C>A c.316+1198C>A (n.316+1198C>A) c.514+1198C>A (n.514+1198C>A) n.542C>A c.*47C>A (n.*47C>A) c.3562C>A (p.Pro1188Thr) c.3532C>A (p.Pro1178Thr) c.3658C>A (p.Pro1220Thr) c.2947C>A (p.Pro983Thr) c.3597+659C>A (n.3597+659C>A) c.3547+1198C>A (n.3547+1198C>A) c.2884C>A (p.Pro962Thr) c.2851C>A (p.Pro951Thr) c.3064C>A (p.Pro1022Thr) | gnomAD v4 |
X | g.53235124_53235125delinsGC | CA2429770700 | IQSEC2 | c.3720_3721delinsGC (p.Pro1240=) c.1453+658_1453+659delinsGC c.962+658_962+659delinsGC c.316+1197_316+1198delinsGC (n.316+1197_316+1198delinsGC) c.514+1197_514+1198delinsGC (n.514+1197_514+1198delinsGC) n.541_542delinsGC c.*46_*47delinsGC (n.*46_*47delinsGC) c.3561_3562delinsGC (p.Pro1187=) c.3531_3532delinsGC (p.Pro1177=) c.3657_3658delinsGC (p.Pro1219=) c.2946_2947delinsGC (p.Pro982=) c.3597+658_3597+659delinsGC (n.3597+658_3597+659delinsGC) c.3547+1197_3547+1198delinsGC (n.3547+1197_3547+1198delinsGC) c.2883_2884delinsGC (p.Pro961=) c.2850_2851delinsGC (p.Pro950=) c.3063_3064delinsGC (p.Pro1021=) | |
X | g.53235125del | CA641903973 | IQSEC2 | c.3720del (p.Pro1241ArgfsTer?) c.1453+658del c.962+658del c.316+1197del (n.316+1197del) c.514+1197del (n.514+1197del) n.541del c.*46del (n.*46del) c.3561del (p.Pro1188ArgfsTer?) c.3531del (p.Pro1178ArgfsTer?) c.3657del (p.Pro1220ArgfsTer?) c.2946del (p.Pro983ArgfsTer?) c.3597+658del (n.3597+658del) c.3547+1197del (n.3547+1197del) c.2883del (p.Pro962ArgfsTer?) c.2850del (p.Pro951ArgfsTer?) c.3063del (p.Pro1022ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235125C>A | CA516674028 | IQSEC2 | c.3720G>T (p.Pro1240=) c.1453+658G>T c.962+658G>T c.316+1197G>T (n.316+1197G>T) c.514+1197G>T (n.514+1197G>T) n.541G>T c.*46G>T (n.*46G>T) c.3561G>T (p.Pro1187=) c.3531G>T (p.Pro1177=) c.3657G>T (p.Pro1219=) c.2946G>T (p.Pro982=) c.3597+658G>T (n.3597+658G>T) c.3547+1197G>T (n.3547+1197G>T) c.2883G>T (p.Pro961=) c.2850G>T (p.Pro950=) c.3063G>T (p.Pro1021=) | gnomAD v4 |
X | g.53235125C= | CA2429770701 | IQSEC2 | c.3720G= (p.Pro1240=) c.1453+658G= c.962+658G= c.316+1197G= (n.316+1197G=) c.514+1197G= (n.514+1197G=) n.541G= c.*46G= (n.*46G=) c.3561G= (p.Pro1187=) c.3531G= (p.Pro1177=) c.3657G= (p.Pro1219=) c.2946G= (p.Pro982=) c.3597+658G= (n.3597+658G=) c.3547+1197G= (n.3547+1197G=) c.2883G= (p.Pro961=) c.2850G= (p.Pro950=) c.3063G= (p.Pro1021=) | |
X | g.53235125C>G | CA516674031 | IQSEC2 | c.3720G>C (p.Pro1240=) c.1453+658G>C c.962+658G>C c.316+1197G>C (n.316+1197G>C) c.514+1197G>C (n.514+1197G>C) n.541G>C c.*46G>C (n.*46G>C) c.3561G>C (p.Pro1187=) c.3531G>C (p.Pro1177=) c.3657G>C (p.Pro1219=) c.2946G>C (p.Pro982=) c.3597+658G>C (n.3597+658G>C) c.3547+1197G>C (n.3547+1197G>C) c.2883G>C (p.Pro961=) c.2850G>C (p.Pro950=) c.3063G>C (p.Pro1021=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53235125C>T | CA516674030 | IQSEC2 | c.3720G>A (p.Pro1240=) c.1453+658G>A c.962+658G>A c.316+1197G>A (n.316+1197G>A) c.514+1197G>A (n.514+1197G>A) n.541G>A c.*46G>A (n.*46G>A) c.3561G>A (p.Pro1187=) c.3531G>A (p.Pro1177=) c.3657G>A (p.Pro1219=) c.2946G>A (p.Pro982=) c.3597+658G>A (n.3597+658G>A) c.3547+1197G>A (n.3547+1197G>A) c.2883G>A (p.Pro961=) c.2850G>A (p.Pro950=) c.3063G>A (p.Pro1021=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235125_53235126insTGGGGGG | CA2693794519 | IQSEC2 | c.3719_3720insCCCCCCA (p.Glu1243AlafsTer?) c.1453+657_1453+658insCCCCCCA c.962+657_962+658insCCCCCCA c.316+1196_316+1197insCCCCCCA (n.316+1196_316+1197insCCCCCCA) c.514+1196_514+1197insCCCCCCA (n.514+1196_514+1197insCCCCCCA) n.540_541insCCCCCCA c.*45_*46insCCCCCCA (n.*45_*46insCCCCCCA) c.3560_3561insCCCCCCA (p.Glu1190AlafsTer?) c.3530_3531insCCCCCCA (p.Glu1180AlafsTer?) c.3656_3657insCCCCCCA (p.Glu1222AlafsTer?) c.2945_2946insCCCCCCA (p.Glu985AlafsTer?) c.3597+657_3597+658insCCCCCCA (n.3597+657_3597+658insCCCCCCA) c.3547+1196_3547+1197insCCCCCCA (n.3547+1196_3547+1197insCCCCCCA) c.2882_2883insCCCCCCA (p.Glu964AlafsTer?) c.2849_2850insCCCCCCA (p.Glu953AlafsTer?) c.3062_3063insCCCCCCA (p.Glu1024AlafsTer?) | gnomAD v4 |
X | g.53235126G>A | CA413142442 | IQSEC2 | c.3719C>T (p.Pro1240Leu) c.1453+657C>T c.962+657C>T c.316+1196C>T (n.316+1196C>T) c.514+1196C>T (n.514+1196C>T) n.540C>T c.*45C>T (n.*45C>T) c.3560C>T (p.Pro1187Leu) c.3530C>T (p.Pro1177Leu) c.3656C>T (p.Pro1219Leu) c.2945C>T (p.Pro982Leu) c.3597+657C>T (n.3597+657C>T) c.3547+1196C>T (n.3547+1196C>T) c.2882C>T (p.Pro961Leu) c.2849C>T (p.Pro950Leu) c.3062C>T (p.Pro1021Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235126G>C | CA413142444 | IQSEC2 | c.3719C>G (p.Pro1240Arg) c.1453+657C>G c.962+657C>G c.316+1196C>G (n.316+1196C>G) c.514+1196C>G (n.514+1196C>G) n.540C>G c.*45C>G (n.*45C>G) c.3560C>G (p.Pro1187Arg) c.3530C>G (p.Pro1177Arg) c.3656C>G (p.Pro1219Arg) c.2945C>G (p.Pro982Arg) c.3597+657C>G (n.3597+657C>G) c.3547+1196C>G (n.3547+1196C>G) c.2882C>G (p.Pro961Arg) c.2849C>G (p.Pro950Arg) c.3062C>G (p.Pro1021Arg) | |
X | g.53235126G= | CA2429770702 | IQSEC2 | c.3719C= (p.Pro1240=) c.1453+657C= c.962+657C= c.316+1196C= (n.316+1196C=) c.514+1196C= (n.514+1196C=) n.540C= c.*45C= (n.*45C=) c.3560C= (p.Pro1187=) c.3530C= (p.Pro1177=) c.3656C= (p.Pro1219=) c.2945C= (p.Pro982=) c.3597+657C= (n.3597+657C=) c.3547+1196C= (n.3547+1196C=) c.2882C= (p.Pro961=) c.2849C= (p.Pro950=) c.3062C= (p.Pro1021=) | |
X | g.53235126G>T | CA413142446 | IQSEC2 | c.3719C>A (p.Pro1240Gln) c.1453+657C>A c.962+657C>A c.316+1196C>A (n.316+1196C>A) c.514+1196C>A (n.514+1196C>A) n.540C>A c.*45C>A (n.*45C>A) c.3560C>A (p.Pro1187Gln) c.3530C>A (p.Pro1177Gln) c.3656C>A (p.Pro1219Gln) c.2945C>A (p.Pro982Gln) c.3597+657C>A (n.3597+657C>A) c.3547+1196C>A (n.3547+1196C>A) c.2882C>A (p.Pro961Gln) c.2849C>A (p.Pro950Gln) c.3062C>A (p.Pro1021Gln) | gnomAD v4 |
X | g.53235130_53235131insGGGGGG | CA2693794526 | IQSEC2 | c.3719_3720insCCCCCC (p.Pro1240_Pro1241insProPro) c.1453+657_1453+658insCCCCCC c.962+657_962+658insCCCCCC c.316+1196_316+1197insCCCCCC (n.316+1196_316+1197insCCCCCC) c.514+1196_514+1197insCCCCCC (n.514+1196_514+1197insCCCCCC) n.540_541insCCCCCC c.*45_*46insCCCCCC (n.*45_*46insCCCCCC) c.3560_3561insCCCCCC (p.Pro1187_Pro1188insProPro) c.3530_3531insCCCCCC (p.Pro1177_Pro1178insProPro) c.3656_3657insCCCCCC (p.Pro1219_Pro1220insProPro) c.2945_2946insCCCCCC (p.Pro982_Pro983insProPro) c.3597+657_3597+658insCCCCCC (n.3597+657_3597+658insCCCCCC) c.3547+1196_3547+1197insCCCCCC (n.3547+1196_3547+1197insCCCCCC) c.2882_2883insCCCCCC (p.Pro961_Pro962insProPro) c.2849_2850insCCCCCC (p.Pro950_Pro951insProPro) c.3062_3063insCCCCCC (p.Pro1021_Pro1022insProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGGG | CA641903976 | IQSEC2 | c.3719_3720insCCCCCCC (p.Glu1243AlafsTer?) c.1453+657_1453+658insCCCCCCC c.962+657_962+658insCCCCCCC c.316+1196_316+1197insCCCCCCC (n.316+1196_316+1197insCCCCCCC) c.514+1196_514+1197insCCCCCCC (n.514+1196_514+1197insCCCCCCC) n.540_541insCCCCCCC c.*45_*46insCCCCCCC (n.*45_*46insCCCCCCC) c.3560_3561insCCCCCCC (p.Glu1190AlafsTer?) c.3530_3531insCCCCCCC (p.Glu1180AlafsTer?) c.3656_3657insCCCCCCC (p.Glu1222AlafsTer?) c.2945_2946insCCCCCCC (p.Glu985AlafsTer?) c.3597+657_3597+658insCCCCCCC (n.3597+657_3597+658insCCCCCCC) c.3547+1196_3547+1197insCCCCCCC (n.3547+1196_3547+1197insCCCCCCC) c.2882_2883insCCCCCCC (p.Glu964AlafsTer?) c.2849_2850insCCCCCCC (p.Glu953AlafsTer?) c.3062_3063insCCCCCCC (p.Glu1024AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGG | CA2693794523 | IQSEC2 | c.3719_3720insCCCCCCCC (p.Glu1243ArgfsTer?) c.1453+657_1453+658insCCCCCCCC c.962+657_962+658insCCCCCCCC c.316+1196_316+1197insCCCCCCCC (n.316+1196_316+1197insCCCCCCCC) c.514+1196_514+1197insCCCCCCCC (n.514+1196_514+1197insCCCCCCCC) n.540_541insCCCCCCCC c.*45_*46insCCCCCCCC (n.*45_*46insCCCCCCCC) c.3560_3561insCCCCCCCC (p.Glu1190ArgfsTer?) c.3530_3531insCCCCCCCC (p.Glu1180ArgfsTer?) c.3656_3657insCCCCCCCC (p.Glu1222ArgfsTer?) c.2945_2946insCCCCCCCC (p.Glu985ArgfsTer?) c.3597+657_3597+658insCCCCCCCC (n.3597+657_3597+658insCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCC) c.2882_2883insCCCCCCCC (p.Glu964ArgfsTer?) c.2849_2850insCCCCCCCC (p.Glu953ArgfsTer?) c.3062_3063insCCCCCCCC (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235130_53235131insCGGGGGGGG | CA2693794528 | IQSEC2 | c.3719_3720insCCCGCCCCC (p.Pro1240_Pro1241insProProPro) c.1453+657_1453+658insCCCGCCCCC c.962+657_962+658insCCCGCCCCC c.316+1196_316+1197insCCCGCCCCC (n.316+1196_316+1197insCCCGCCCCC) c.514+1196_514+1197insCCCGCCCCC (n.514+1196_514+1197insCCCGCCCCC) n.540_541insCCCGCCCCC c.*45_*46insCCCGCCCCC (n.*45_*46insCCCGCCCCC) c.3560_3561insCCCGCCCCC (p.Pro1187_Pro1188insProProPro) c.3530_3531insCCCGCCCCC (p.Pro1177_Pro1178insProProPro) c.3656_3657insCCCGCCCCC (p.Pro1219_Pro1220insProProPro) c.2945_2946insCCCGCCCCC (p.Pro982_Pro983insProProPro) c.3597+657_3597+658insCCCGCCCCC (n.3597+657_3597+658insCCCGCCCCC) c.3547+1196_3547+1197insCCCGCCCCC (n.3547+1196_3547+1197insCCCGCCCCC) c.2882_2883insCCCGCCCCC (p.Pro961_Pro962insProProPro) c.2849_2850insCCCGCCCCC (p.Pro950_Pro951insProProPro) c.3062_3063insCCCGCCCCC (p.Pro1021_Pro1022insProProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGG | CA641903975 | IQSEC2 | c.3719_3720insCCCCCCCCC (p.Pro1240_Pro1241insProProPro) c.1453+657_1453+658insCCCCCCCCC c.962+657_962+658insCCCCCCCCC c.316+1196_316+1197insCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCC) n.540_541insCCCCCCCCC c.*45_*46insCCCCCCCCC (n.*45_*46insCCCCCCCCC) c.3560_3561insCCCCCCCCC (p.Pro1187_Pro1188insProProPro) c.3530_3531insCCCCCCCCC (p.Pro1177_Pro1178insProProPro) c.3656_3657insCCCCCCCCC (p.Pro1219_Pro1220insProProPro) c.2945_2946insCCCCCCCCC (p.Pro982_Pro983insProProPro) c.3597+657_3597+658insCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCC) c.2882_2883insCCCCCCCCC (p.Pro961_Pro962insProProPro) c.2849_2850insCCCCCCCCC (p.Pro950_Pro951insProProPro) c.3062_3063insCCCCCCCCC (p.Pro1021_Pro1022insProProPro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGGG | CA641903977 | IQSEC2 | c.3719_3720insCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCC c.962+657_962+658insCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCC) n.540_541insCCCCCCCCCC c.*45_*46insCCCCCCCCCC (n.*45_*46insCCCCCCCCCC) c.3560_3561insCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCC) c.2882_2883insCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGGGGG | CA1133160160 | IQSEC2 | c.3719_3720insCCCCCCCCCCCC (p.Pro1240_Pro1241insProProProPro) c.1453+657_1453+658insCCCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCC) n.540_541insCCCCCCCCCCCC c.*45_*46insCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCC) c.3560_3561insCCCCCCCCCCCC (p.Pro1187_Pro1188insProProProPro) c.3530_3531insCCCCCCCCCCCC (p.Pro1177_Pro1178insProProProPro) c.3656_3657insCCCCCCCCCCCC (p.Pro1219_Pro1220insProProProPro) c.2945_2946insCCCCCCCCCCCC (p.Pro982_Pro983insProProProPro) c.3597+657_3597+658insCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCC) c.2882_2883insCCCCCCCCCCCC (p.Pro961_Pro962insProProProPro) c.2849_2850insCCCCCCCCCCCC (p.Pro950_Pro951insProProProPro) c.3062_3063insCCCCCCCCCCCC (p.Pro1021_Pro1022insProProProPro) | gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGTGGGGGGGGGGG | CA2693794518 | IQSEC2 | c.3719_3720insCCCCCCACCCCCCCC (p.Pro1240_Pro1241insProProProProPro) c.1453+657_1453+658insCCCCCCACCCCCCCC c.962+657_962+658insCCCCCCACCCCCCCC c.316+1196_316+1197insCCCCCCACCCCCCCC (n.316+1196_316+1197insCCCCCCACCCCCCCC) c.514+1196_514+1197insCCCCCCACCCCCCCC (n.514+1196_514+1197insCCCCCCACCCCCCCC) n.540_541insCCCCCCACCCCCCCC c.*45_*46insCCCCCCACCCCCCCC (n.*45_*46insCCCCCCACCCCCCCC) c.3560_3561insCCCCCCACCCCCCCC (p.Pro1187_Pro1188insProProProProPro) c.3530_3531insCCCCCCACCCCCCCC (p.Pro1177_Pro1178insProProProProPro) c.3656_3657insCCCCCCACCCCCCCC (p.Pro1219_Pro1220insProProProProPro) c.2945_2946insCCCCCCACCCCCCCC (p.Pro982_Pro983insProProProProPro) c.3597+657_3597+658insCCCCCCACCCCCCCC (n.3597+657_3597+658insCCCCCCACCCCCCCC) c.3547+1196_3547+1197insCCCCCCACCCCCCCC (n.3547+1196_3547+1197insCCCCCCACCCCCCCC) c.2882_2883insCCCCCCACCCCCCCC (p.Pro961_Pro962insProProProProPro) c.2849_2850insCCCCCCACCCCCCCC (p.Pro950_Pro951insProProProProPro) c.3062_3063insCCCCCCACCCCCCCC (p.Pro1021_Pro1022insProProProProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGCCGGGGGGGGGGGGGGG | CA2820950254 | IQSEC2 | c.3719_3720insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCCGGCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCGGCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC) n.540_541insCCCCCCCCCCGGCCCCCCCCCC c.*45_*46insCCCCCCCCCCGGCCCCCCCCCC (n.*45_*46insCCCCCCCCCCGGCCCCCCCCCC) c.3560_3561insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCCGGCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC) c.2882_2883insCCCCCCCCCCGGCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCCGGCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGGGGGGGGGGGGGGGGGGGGGG | CA2820950251 | IQSEC2 | c.3719_3720insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCCCCCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCCCCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC) n.540_541insCCCCCCCCCCCCCCCCCCCCCC c.*45_*46insCCCCCCCCCCCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCCCCCC) c.3560_3561insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC) c.2882_2883insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGGGGGGCGAGGAGGGGGGGGGGG | CA2820950253 | IQSEC2 | c.3719_3720insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCTCCTCGCCCCCCCCCCC c.962+657_962+658insCCCCCCTCCTCGCCCCCCCCCCC c.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC) n.540_541insCCCCCCTCCTCGCCCCCCCCCCC c.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC (n.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC) c.3560_3561insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC) c.2882_2883insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGCGGGGGGGGGGGGGGGGGGGGGG | CA2693794525 | IQSEC2 | c.3719_3720insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1240_Pro1241insProProProProProArgProPro) c.1453+657_1453+658insCCCCCCCCCCCCCCCCCGCCCCCC c.962+657_962+658insCCCCCCCCCCCCCCCCCGCCCCCC c.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC) n.540_541insCCCCCCCCCCCCCCCCCGCCCCCC c.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC) c.3560_3561insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1187_Pro1188insProProProProProArgProPro) c.3530_3531insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1177_Pro1178insProProProProProArgProPro) c.3656_3657insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1219_Pro1220insProProProProProArgProPro) c.2945_2946insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro982_Pro983insProProProProProArgProPro) c.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC) c.2882_2883insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro961_Pro962insProProProProProArgProPro) c.2849_2850insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro950_Pro951insProProProProProArgProPro) c.3062_3063insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1021_Pro1022insProProProProProArgProPro) | gnomAD v4 |
X | g.53235130dup | CA2820950248 | IQSEC2 | c.3719dup (p.Pro1241AlafsTer?) c.1453+657dup c.962+657dup c.316+1196dup (n.316+1196dup) c.514+1196dup (n.514+1196dup) n.540dup c.*45dup (n.*45dup) c.3560dup (p.Pro1188AlafsTer?) c.3530dup (p.Pro1178AlafsTer?) c.3656dup (p.Pro1220AlafsTer?) c.2945dup (p.Pro983AlafsTer?) c.3597+657dup (n.3597+657dup) c.3547+1196dup (n.3547+1196dup) c.2882dup (p.Pro962AlafsTer?) c.2849dup (p.Pro951AlafsTer?) c.3062dup (p.Pro1022AlafsTer?) | |
X | g.53235128_53235130dup | CA641903974 | IQSEC2 | c.3717_3719dup (p.Pro1240_Pro1241insPro) c.1453+655_1453+657dup c.962+655_962+657dup c.316+1194_316+1196dup (n.316+1194_316+1196dup) c.514+1194_514+1196dup (n.514+1194_514+1196dup) n.538_540dup c.*43_*45dup (n.*43_*45dup) c.3558_3560dup (p.Pro1187_Pro1188insPro) c.3528_3530dup (p.Pro1177_Pro1178insPro) c.3654_3656dup (p.Pro1219_Pro1220insPro) c.2943_2945dup (p.Pro982_Pro983insPro) c.3597+655_3597+657dup (n.3597+655_3597+657dup) c.3547+1194_3547+1196dup (n.3547+1194_3547+1196dup) c.2880_2882dup (p.Pro961_Pro962insPro) c.2847_2849dup (p.Pro950_Pro951insPro) c.3060_3062dup (p.Pro1021_Pro1022insPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235127_53235130dup | CA2693794532 | IQSEC2 | c.3716_3719dup (p.Pro1242AlafsTer?) c.1453+654_1453+657dup c.962+654_962+657dup c.316+1193_316+1196dup (n.316+1193_316+1196dup) c.514+1193_514+1196dup (n.514+1193_514+1196dup) n.537_540dup c.*42_*45dup (n.*42_*45dup) c.3557_3560dup (p.Pro1189AlafsTer?) c.3527_3530dup (p.Pro1179AlafsTer?) c.3653_3656dup (p.Pro1221AlafsTer?) c.2942_2945dup (p.Pro984AlafsTer?) c.3597+654_3597+657dup (n.3597+654_3597+657dup) c.3547+1193_3547+1196dup (n.3547+1193_3547+1196dup) c.2879_2882dup (p.Pro963AlafsTer?) c.2846_2849dup (p.Pro952AlafsTer?) c.3059_3062dup (p.Pro1023AlafsTer?) | gnomAD v4 |
X | g.53235126_53235130dup | CA2693794530 | IQSEC2 | c.3715_3719dup (p.Pro1242ArgfsTer?) c.1453+653_1453+657dup c.962+653_962+657dup c.316+1192_316+1196dup (n.316+1192_316+1196dup) c.514+1192_514+1196dup (n.514+1192_514+1196dup) n.536_540dup c.*41_*45dup (n.*41_*45dup) c.3556_3560dup (p.Pro1189ArgfsTer?) c.3526_3530dup (p.Pro1179ArgfsTer?) c.3652_3656dup (p.Pro1221ArgfsTer?) c.2941_2945dup (p.Pro984ArgfsTer?) c.3597+653_3597+657dup (n.3597+653_3597+657dup) c.3547+1192_3547+1196dup (n.3547+1192_3547+1196dup) c.2878_2882dup (p.Pro963ArgfsTer?) c.2845_2849dup (p.Pro952ArgfsTer?) c.3058_3062dup (p.Pro1023ArgfsTer?) | gnomAD v4 |
X | g.53235130del | CA2579614745 | IQSEC2 | c.3719del (p.Pro1240ArgfsTer?) c.1453+657del c.962+657del c.316+1196del (n.316+1196del) c.514+1196del (n.514+1196del) n.540del c.*45del (n.*45del) c.3560del (p.Pro1187ArgfsTer?) c.3530del (p.Pro1177ArgfsTer?) c.3656del (p.Pro1219ArgfsTer?) c.2945del (p.Pro982ArgfsTer?) c.3597+657del (n.3597+657del) c.3547+1196del (n.3547+1196del) c.2882del (p.Pro961ArgfsTer?) c.2849del (p.Pro950ArgfsTer?) c.3062del (p.Pro1021ArgfsTer?) | gnomAD v4 |
X | g.53235133_53235134insCAGCCTCTGGGGGGGGGGTGG | CA2820950249 | IQSEC2 | c.3719_3720insCCCCCAGAGGCTGCCACCCCC (p.Pro1240_Pro1241insProGlnArgLeuProProPro) c.1453+657_1453+658insCCCCCAGAGGCTGCCACCCCC c.962+657_962+658insCCCCCAGAGGCTGCCACCCCC c.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC (n.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC) c.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC (n.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC) n.540_541insCCCCCAGAGGCTGCCACCCCC c.*45_*46insCCCCCAGAGGCTGCCACCCCC (n.*45_*46insCCCCCAGAGGCTGCCACCCCC) c.3560_3561insCCCCCAGAGGCTGCCACCCCC (p.Pro1187_Pro1188insProGlnArgLeuProProPro) c.3530_3531insCCCCCAGAGGCTGCCACCCCC (p.Pro1177_Pro1178insProGlnArgLeuProProPro) c.3656_3657insCCCCCAGAGGCTGCCACCCCC (p.Pro1219_Pro1220insProGlnArgLeuProProPro) c.2945_2946insCCCCCAGAGGCTGCCACCCCC (p.Pro982_Pro983insProGlnArgLeuProProPro) c.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC (n.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC) c.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC (n.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC) c.2882_2883insCCCCCAGAGGCTGCCACCCCC (p.Pro961_Pro962insProGlnArgLeuProProPro) c.2849_2850insCCCCCAGAGGCTGCCACCCCC (p.Pro950_Pro951insProGlnArgLeuProProPro) c.3062_3063insCCCCCAGAGGCTGCCACCCCC (p.Pro1021_Pro1022insProGlnArgLeuProProPro) | |
X | g.53235136_53235137insGGGGGGTGGGGG | CA920412496 | IQSEC2 | c.3719_3720insCCCCCCACCCCC (p.Pro1240_Pro1241insProProProPro) c.1453+657_1453+658insCCCCCCACCCCC c.962+657_962+658insCCCCCCACCCCC c.316+1196_316+1197insCCCCCCACCCCC (n.316+1196_316+1197insCCCCCCACCCCC) c.514+1196_514+1197insCCCCCCACCCCC (n.514+1196_514+1197insCCCCCCACCCCC) n.540_541insCCCCCCACCCCC c.*45_*46insCCCCCCACCCCC (n.*45_*46insCCCCCCACCCCC) c.3560_3561insCCCCCCACCCCC (p.Pro1187_Pro1188insProProProPro) c.3530_3531insCCCCCCACCCCC (p.Pro1177_Pro1178insProProProPro) c.3656_3657insCCCCCCACCCCC (p.Pro1219_Pro1220insProProProPro) c.2945_2946insCCCCCCACCCCC (p.Pro982_Pro983insProProProPro) c.3597+657_3597+658insCCCCCCACCCCC (n.3597+657_3597+658insCCCCCCACCCCC) c.3547+1196_3547+1197insCCCCCCACCCCC (n.3547+1196_3547+1197insCCCCCCACCCCC) c.2882_2883insCCCCCCACCCCC (p.Pro961_Pro962insProProProPro) c.2849_2850insCCCCCCACCCCC (p.Pro950_Pro951insProProProPro) c.3062_3063insCCCCCCACCCCC (p.Pro1021_Pro1022insProProProPro) | dbSNP gnomAD v4 |
X | g.53235131_53235136del | CA2693794520 | IQSEC2 | c.3714_3719del (p.Pro1239_Pro1240del) c.1453+652_1453+657del c.962+652_962+657del c.316+1191_316+1196del (n.316+1191_316+1196del) c.514+1191_514+1196del (n.514+1191_514+1196del) n.535_540del c.*40_*45del (n.*40_*45del) c.3555_3560del (p.Pro1186_Pro1187del) c.3525_3530del (p.Pro1176_Pro1177del) c.3651_3656del (p.Pro1218_Pro1219del) c.2940_2945del (p.Pro981_Pro982del) c.3597+652_3597+657del (n.3597+652_3597+657del) c.3547+1191_3547+1196del (n.3547+1191_3547+1196del) c.2877_2882del (p.Pro960_Pro961del) c.2844_2849del (p.Pro949_Pro950del) c.3057_3062del (p.Pro1020_Pro1021del) | gnomAD v4 |
X | g.53235127G>A | CA413142447 | IQSEC2 | c.3718C>T (p.Pro1240Ser) c.1453+656C>T c.962+656C>T c.316+1195C>T (n.316+1195C>T) c.514+1195C>T (n.514+1195C>T) n.539C>T c.*44C>T (n.*44C>T) c.3559C>T (p.Pro1187Ser) c.3529C>T (p.Pro1177Ser) c.3655C>T (p.Pro1219Ser) c.2944C>T (p.Pro982Ser) c.3597+656C>T (n.3597+656C>T) c.3547+1195C>T (n.3547+1195C>T) c.2881C>T (p.Pro961Ser) c.2848C>T (p.Pro950Ser) c.3061C>T (p.Pro1021Ser) | gnomAD v4 |
X | g.53235127G>C | CA413142448 | IQSEC2 | c.3718C>G (p.Pro1240Ala) c.1453+656C>G c.962+656C>G c.316+1195C>G (n.316+1195C>G) c.514+1195C>G (n.514+1195C>G) n.539C>G c.*44C>G (n.*44C>G) c.3559C>G (p.Pro1187Ala) c.3529C>G (p.Pro1177Ala) c.3655C>G (p.Pro1219Ala) c.2944C>G (p.Pro982Ala) c.3597+656C>G (n.3597+656C>G) c.3547+1195C>G (n.3547+1195C>G) c.2881C>G (p.Pro961Ala) c.2848C>G (p.Pro950Ala) c.3061C>G (p.Pro1021Ala) | |
X | g.53235127G>T | CA413142450 | IQSEC2 | c.3718C>A (p.Pro1240Thr) c.1453+656C>A c.962+656C>A c.316+1195C>A (n.316+1195C>A) c.514+1195C>A (n.514+1195C>A) n.539C>A c.*44C>A (n.*44C>A) c.3559C>A (p.Pro1187Thr) c.3529C>A (p.Pro1177Thr) c.3655C>A (p.Pro1219Thr) c.2944C>A (p.Pro982Thr) c.3597+656C>A (n.3597+656C>A) c.3547+1195C>A (n.3547+1195C>A) c.2881C>A (p.Pro961Thr) c.2848C>A (p.Pro950Thr) c.3061C>A (p.Pro1021Thr) | gnomAD v4 |
X | g.53235128G>A | CA516674037 | IQSEC2 | c.3717C>T (p.Pro1239=) c.1453+655C>T c.962+655C>T c.316+1194C>T (n.316+1194C>T) c.514+1194C>T (n.514+1194C>T) n.538C>T c.*43C>T (n.*43C>T) c.3558C>T (p.Pro1186=) c.3528C>T (p.Pro1176=) c.3654C>T (p.Pro1218=) c.2943C>T (p.Pro981=) c.3597+655C>T (n.3597+655C>T) c.3547+1194C>T (n.3547+1194C>T) c.2880C>T (p.Pro960=) c.2847C>T (p.Pro949=) c.3060C>T (p.Pro1020=) | gnomAD v4 |
X | g.53235128G>C | CA516674035 | IQSEC2 | c.3717C>G (p.Pro1239=) c.1453+655C>G c.962+655C>G c.316+1194C>G (n.316+1194C>G) c.514+1194C>G (n.514+1194C>G) n.538C>G c.*43C>G (n.*43C>G) c.3558C>G (p.Pro1186=) c.3528C>G (p.Pro1176=) c.3654C>G (p.Pro1218=) c.2943C>G (p.Pro981=) c.3597+655C>G (n.3597+655C>G) c.3547+1194C>G (n.3547+1194C>G) c.2880C>G (p.Pro960=) c.2847C>G (p.Pro949=) c.3060C>G (p.Pro1020=) | |
X | g.53235128G= | CA2429770703 | IQSEC2 | c.3717C= (p.Pro1239=) c.1453+655C= c.962+655C= c.316+1194C= (n.316+1194C=) c.514+1194C= (n.514+1194C=) n.538C= c.*43C= (n.*43C=) c.3558C= (p.Pro1186=) c.3528C= (p.Pro1176=) c.3654C= (p.Pro1218=) c.2943C= (p.Pro981=) c.3597+655C= (n.3597+655C=) c.3547+1194C= (n.3547+1194C=) c.2880C= (p.Pro960=) c.2847C= (p.Pro949=) c.3060C= (p.Pro1020=) | |
X | g.53235128G>T | CA516674033 | IQSEC2 | c.3717C>A (p.Pro1239=) c.1453+655C>A c.962+655C>A c.316+1194C>A (n.316+1194C>A) c.514+1194C>A (n.514+1194C>A) n.538C>A c.*43C>A (n.*43C>A) c.3558C>A (p.Pro1186=) c.3528C>A (p.Pro1176=) c.3654C>A (p.Pro1218=) c.2943C>A (p.Pro981=) c.3597+655C>A (n.3597+655C>A) c.3547+1194C>A (n.3547+1194C>A) c.2880C>A (p.Pro960=) c.2847C>A (p.Pro949=) c.3060C>A (p.Pro1020=) | dbSNP gnomAD v4 |
X | g.53235129G>A | CA413142457 | IQSEC2 | c.3716C>T (p.Pro1239Leu) c.1453+654C>T c.962+654C>T c.316+1193C>T (n.316+1193C>T) c.514+1193C>T (n.514+1193C>T) n.537C>T c.*42C>T (n.*42C>T) c.3557C>T (p.Pro1186Leu) c.3527C>T (p.Pro1176Leu) c.3653C>T (p.Pro1218Leu) c.2942C>T (p.Pro981Leu) c.3597+654C>T (n.3597+654C>T) c.3547+1193C>T (n.3547+1193C>T) c.2879C>T (p.Pro960Leu) c.2846C>T (p.Pro949Leu) c.3059C>T (p.Pro1020Leu) | gnomAD v4 |
X | g.53235129G>C | CA413142460 | IQSEC2 | c.3716C>G (p.Pro1239Arg) c.1453+654C>G c.962+654C>G c.316+1193C>G (n.316+1193C>G) c.514+1193C>G (n.514+1193C>G) n.537C>G c.*42C>G (n.*42C>G) c.3557C>G (p.Pro1186Arg) c.3527C>G (p.Pro1176Arg) c.3653C>G (p.Pro1218Arg) c.2942C>G (p.Pro981Arg) c.3597+654C>G (n.3597+654C>G) c.3547+1193C>G (n.3547+1193C>G) c.2879C>G (p.Pro960Arg) c.2846C>G (p.Pro949Arg) c.3059C>G (p.Pro1020Arg) | ClinVar |
X | g.53235129G>T | CA413142454 | IQSEC2 | c.3716C>A (p.Pro1239His) c.1453+654C>A c.962+654C>A c.316+1193C>A (n.316+1193C>A) c.514+1193C>A (n.514+1193C>A) n.537C>A c.*42C>A (n.*42C>A) c.3557C>A (p.Pro1186His) c.3527C>A (p.Pro1176His) c.3653C>A (p.Pro1218His) c.2942C>A (p.Pro981His) c.3597+654C>A (n.3597+654C>A) c.3547+1193C>A (n.3547+1193C>A) c.2879C>A (p.Pro960His) c.2846C>A (p.Pro949His) c.3059C>A (p.Pro1020His) | gnomAD v4 |
X | g.53235129_53235131delinsGGT | CA2429770704 | IQSEC2 | c.3714_3716delinsACC (p.Pro1238=) c.1453+652_1453+654delinsACC c.962+652_962+654delinsACC c.316+1191_316+1193delinsACC (n.316+1191_316+1193delinsACC) c.514+1191_514+1193delinsACC (n.514+1191_514+1193delinsACC) n.535_537delinsACC c.*40_*42delinsACC (n.*40_*42delinsACC) c.3555_3557delinsACC (p.Pro1185=) c.3525_3527delinsACC (p.Pro1175=) c.3651_3653delinsACC (p.Pro1217=) c.2940_2942delinsACC (p.Pro980=) c.3597+652_3597+654delinsACC (n.3597+652_3597+654delinsACC) c.3547+1191_3547+1193delinsACC (n.3547+1191_3547+1193delinsACC) c.2877_2879delinsACC (p.Pro959=) c.2844_2846delinsACC (p.Pro948=) c.3057_3059delinsACC (p.Pro1019=) | |
X | g.53235134_53235145del | CA2693794545 | IQSEC2 | c.3705_3716del (p.Pro1236_Pro1239del) c.1453+643_1453+654del c.962+643_962+654del c.316+1182_316+1193del (n.316+1182_316+1193del) c.514+1182_514+1193del (n.514+1182_514+1193del) n.526_537del c.*31_*42del (n.*31_*42del) c.3546_3557del (p.Pro1183_Pro1186del) c.3516_3527del (p.Pro1173_Pro1176del) c.3642_3653del (p.Pro1215_Pro1218del) c.2931_2942del (p.Pro978_Pro981del) c.3597+643_3597+654del (n.3597+643_3597+654del) c.3547+1182_3547+1193del (n.3547+1182_3547+1193del) c.2868_2879del (p.Pro957_Pro960del) c.2835_2846del (p.Pro946_Pro949del) c.3048_3059del (p.Pro1017_Pro1020del) | gnomAD v4 |
X | g.53235131_53235145del | CA2693794547 | IQSEC2 | c.3702_3716del (p.Pro1235_Pro1239del) c.1453+640_1453+654del c.962+640_962+654del c.316+1179_316+1193del (n.316+1179_316+1193del) c.514+1179_514+1193del (n.514+1179_514+1193del) n.523_537del c.*28_*42del (n.*28_*42del) c.3543_3557del (p.Pro1182_Pro1186del) c.3513_3527del (p.Pro1172_Pro1176del) c.3639_3653del (p.Pro1214_Pro1218del) c.2928_2942del (p.Pro977_Pro981del) c.3597+640_3597+654del (n.3597+640_3597+654del) c.3547+1179_3547+1193del (n.3547+1179_3547+1193del) c.2865_2879del (p.Pro956_Pro960del) c.2832_2846del (p.Pro945_Pro949del) c.3045_3059del (p.Pro1016_Pro1020del) | gnomAD v4 |
X | g.53235130G>A | CA413142465 | IQSEC2 | c.3715C>T (p.Pro1239Ser) c.1453+653C>T c.962+653C>T c.316+1192C>T (n.316+1192C>T) c.514+1192C>T (n.514+1192C>T) n.536C>T c.*41C>T (n.*41C>T) c.3556C>T (p.Pro1186Ser) c.3526C>T (p.Pro1176Ser) c.3652C>T (p.Pro1218Ser) c.2941C>T (p.Pro981Ser) c.3597+653C>T (n.3597+653C>T) c.3547+1192C>T (n.3547+1192C>T) c.2878C>T (p.Pro960Ser) c.2845C>T (p.Pro949Ser) c.3058C>T (p.Pro1020Ser) | gnomAD v4 |
X | g.53235130G>C | CA413142472 | IQSEC2 | c.3715C>G (p.Pro1239Ala) c.1453+653C>G c.962+653C>G c.316+1192C>G (n.316+1192C>G) c.514+1192C>G (n.514+1192C>G) n.536C>G c.*41C>G (n.*41C>G) c.3556C>G (p.Pro1186Ala) c.3526C>G (p.Pro1176Ala) c.3652C>G (p.Pro1218Ala) c.2941C>G (p.Pro981Ala) c.3597+653C>G (n.3597+653C>G) c.3547+1192C>G (n.3547+1192C>G) c.2878C>G (p.Pro960Ala) c.2845C>G (p.Pro949Ala) c.3058C>G (p.Pro1020Ala) | gnomAD v3 gnomAD v4 |
X | g.53235130G>T | CA413142468 | IQSEC2 | c.3715C>A (p.Pro1239Thr) c.1453+653C>A c.962+653C>A c.316+1192C>A (n.316+1192C>A) c.514+1192C>A (n.514+1192C>A) n.536C>A c.*41C>A (n.*41C>A) c.3556C>A (p.Pro1186Thr) c.3526C>A (p.Pro1176Thr) c.3652C>A (p.Pro1218Thr) c.2941C>A (p.Pro981Thr) c.3597+653C>A (n.3597+653C>A) c.3547+1192C>A (n.3547+1192C>A) c.2878C>A (p.Pro960Thr) c.2845C>A (p.Pro949Thr) c.3058C>A (p.Pro1020Thr) | gnomAD v4 |
X | g.53235131_53235132del | CA641903978 | IQSEC2 | c.3714_3715del (p.Pro1240AlafsTer?) c.1453+652_1453+653del c.962+652_962+653del c.316+1191_316+1192del (n.316+1191_316+1192del) c.514+1191_514+1192del (n.514+1191_514+1192del) n.535_536del c.*40_*41del (n.*40_*41del) c.3555_3556del (p.Pro1187AlafsTer?) c.3525_3526del (p.Pro1177AlafsTer?) c.3651_3652del (p.Pro1219AlafsTer?) c.2940_2941del (p.Pro982AlafsTer?) c.3597+652_3597+653del (n.3597+652_3597+653del) c.3547+1191_3547+1192del (n.3547+1191_3547+1192del) c.2877_2878del (p.Pro961AlafsTer?) c.2844_2845del (p.Pro950AlafsTer?) c.3057_3058del (p.Pro1021AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235131del | CA2693794553 | IQSEC2 | c.3714del (p.Pro1240ArgfsTer?) c.1453+652del c.962+652del c.316+1191del (n.316+1191del) c.514+1191del (n.514+1191del) n.535del c.*40del (n.*40del) c.3555del (p.Pro1187ArgfsTer?) c.3525del (p.Pro1177ArgfsTer?) c.3651del (p.Pro1219ArgfsTer?) c.2940del (p.Pro982ArgfsTer?) c.3597+652del (n.3597+652del) c.3547+1191del (n.3547+1191del) c.2877del (p.Pro961ArgfsTer?) c.2844del (p.Pro950ArgfsTer?) c.3057del (p.Pro1021ArgfsTer?) | gnomAD v4 |
X | g.53235131T>A | CA516674042 | IQSEC2 | c.3714A>T (p.Pro1238=) c.1453+652A>T c.962+652A>T c.316+1191A>T (n.316+1191A>T) c.514+1191A>T (n.514+1191A>T) n.535A>T c.*40A>T (n.*40A>T) c.3555A>T (p.Pro1185=) c.3525A>T (p.Pro1175=) c.3651A>T (p.Pro1217=) c.2940A>T (p.Pro980=) c.3597+652A>T (n.3597+652A>T) c.3547+1191A>T (n.3547+1191A>T) c.2877A>T (p.Pro959=) c.2844A>T (p.Pro948=) c.3057A>T (p.Pro1019=) | gnomAD v4 |
X | g.53235131T>C | CA516674047 | IQSEC2 | c.3714A>G (p.Pro1238=) c.1453+652A>G c.962+652A>G c.316+1191A>G (n.316+1191A>G) c.514+1191A>G (n.514+1191A>G) n.535A>G c.*40A>G (n.*40A>G) c.3555A>G (p.Pro1185=) c.3525A>G (p.Pro1175=) c.3651A>G (p.Pro1217=) c.2940A>G (p.Pro980=) c.3597+652A>G (n.3597+652A>G) c.3547+1191A>G (n.3547+1191A>G) c.2877A>G (p.Pro959=) c.2844A>G (p.Pro948=) c.3057A>G (p.Pro1019=) | gnomAD v3 gnomAD v4 |
X | g.53235131T>G | CA516674045 | IQSEC2 | c.3714A>C (p.Pro1238=) c.1453+652A>C c.962+652A>C c.316+1191A>C (n.316+1191A>C) c.514+1191A>C (n.514+1191A>C) n.535A>C c.*40A>C (n.*40A>C) c.3555A>C (p.Pro1185=) c.3525A>C (p.Pro1175=) c.3651A>C (p.Pro1217=) c.2940A>C (p.Pro980=) c.3597+652A>C (n.3597+652A>C) c.3547+1191A>C (n.3547+1191A>C) c.2877A>C (p.Pro959=) c.2844A>C (p.Pro948=) c.3057A>C (p.Pro1019=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235131T= | CA2429770705 | IQSEC2 | c.3714A= (p.Pro1238=) c.1453+652A= c.962+652A= c.316+1191A= (n.316+1191A=) c.514+1191A= (n.514+1191A=) n.535A= c.*40A= (n.*40A=) c.3555A= (p.Pro1185=) c.3525A= (p.Pro1175=) c.3651A= (p.Pro1217=) c.2940A= (p.Pro980=) c.3597+652A= (n.3597+652A=) c.3547+1191A= (n.3547+1191A=) c.2877A= (p.Pro959=) c.2844A= (p.Pro948=) c.3057A= (p.Pro1019=) | |
X | g.53235132G>A | CA413142476 | IQSEC2 | c.3713C>T (p.Pro1238Leu) c.1453+651C>T c.962+651C>T c.316+1190C>T (n.316+1190C>T) c.514+1190C>T (n.514+1190C>T) n.534C>T c.*39C>T (n.*39C>T) c.3554C>T (p.Pro1185Leu) c.3524C>T (p.Pro1175Leu) c.3650C>T (p.Pro1217Leu) c.2939C>T (p.Pro980Leu) c.3597+651C>T (n.3597+651C>T) c.3547+1190C>T (n.3547+1190C>T) c.2876C>T (p.Pro959Leu) c.2843C>T (p.Pro948Leu) c.3056C>T (p.Pro1019Leu) | dbSNP gnomAD v2 |
X | g.53235132G>C | CA413142480 | IQSEC2 | c.3713C>G (p.Pro1238Arg) c.1453+651C>G c.962+651C>G c.316+1190C>G (n.316+1190C>G) c.514+1190C>G (n.514+1190C>G) n.534C>G c.*39C>G (n.*39C>G) c.3554C>G (p.Pro1185Arg) c.3524C>G (p.Pro1175Arg) c.3650C>G (p.Pro1217Arg) c.2939C>G (p.Pro980Arg) c.3597+651C>G (n.3597+651C>G) c.3547+1190C>G (n.3547+1190C>G) c.2876C>G (p.Pro959Arg) c.2843C>G (p.Pro948Arg) c.3056C>G (p.Pro1019Arg) | ClinVar dbSNP gnomAD v4 |
X | g.53235132G= | CA2429770706 | IQSEC2 | c.3713C= (p.Pro1238=) c.1453+651C= c.962+651C= c.316+1190C= (n.316+1190C=) c.514+1190C= (n.514+1190C=) n.534C= c.*39C= (n.*39C=) c.3554C= (p.Pro1185=) c.3524C= (p.Pro1175=) c.3650C= (p.Pro1217=) c.2939C= (p.Pro980=) c.3597+651C= (n.3597+651C=) c.3547+1190C= (n.3547+1190C=) c.2876C= (p.Pro959=) c.2843C= (p.Pro948=) c.3056C= (p.Pro1019=) | |
X | g.53235132G>T | CA413142483 | IQSEC2 | c.3713C>A (p.Pro1238Gln) c.1453+651C>A c.962+651C>A c.316+1190C>A (n.316+1190C>A) c.514+1190C>A (n.514+1190C>A) n.534C>A c.*39C>A (n.*39C>A) c.3554C>A (p.Pro1185Gln) c.3524C>A (p.Pro1175Gln) c.3650C>A (p.Pro1217Gln) c.2939C>A (p.Pro980Gln) c.3597+651C>A (n.3597+651C>A) c.3547+1190C>A (n.3547+1190C>A) c.2876C>A (p.Pro959Gln) c.2843C>A (p.Pro948Gln) c.3056C>A (p.Pro1019Gln) | dbSNP gnomAD v4 |
X | g.53235136_53235137insGGGGGG | CA641903980 | IQSEC2 | c.3713_3714insCCCCCC (p.Pro1238_Pro1239insProPro) c.1453+651_1453+652insCCCCCC c.962+651_962+652insCCCCCC c.316+1190_316+1191insCCCCCC (n.316+1190_316+1191insCCCCCC) c.514+1190_514+1191insCCCCCC (n.514+1190_514+1191insCCCCCC) n.534_535insCCCCCC c.*39_*40insCCCCCC (n.*39_*40insCCCCCC) c.3554_3555insCCCCCC (p.Pro1185_Pro1186insProPro) c.3524_3525insCCCCCC (p.Pro1175_Pro1176insProPro) c.3650_3651insCCCCCC (p.Pro1217_Pro1218insProPro) c.2939_2940insCCCCCC (p.Pro980_Pro981insProPro) c.3597+651_3597+652insCCCCCC (n.3597+651_3597+652insCCCCCC) c.3547+1190_3547+1191insCCCCCC (n.3547+1190_3547+1191insCCCCCC) c.2876_2877insCCCCCC (p.Pro959_Pro960insProPro) c.2843_2844insCCCCCC (p.Pro948_Pro949insProPro) c.3056_3057insCCCCCC (p.Pro1019_Pro1020insProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGG | CA641903981 | IQSEC2 | c.3713_3714insCCCCCCCCC (p.Pro1238_Pro1239insProProPro) c.1453+651_1453+652insCCCCCCCCC c.962+651_962+652insCCCCCCCCC c.316+1190_316+1191insCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCC) n.534_535insCCCCCCCCC c.*39_*40insCCCCCCCCC (n.*39_*40insCCCCCCCCC) c.3554_3555insCCCCCCCCC (p.Pro1185_Pro1186insProProPro) c.3524_3525insCCCCCCCCC (p.Pro1175_Pro1176insProProPro) c.3650_3651insCCCCCCCCC (p.Pro1217_Pro1218insProProPro) c.2939_2940insCCCCCCCCC (p.Pro980_Pro981insProProPro) c.3597+651_3597+652insCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCC) c.2876_2877insCCCCCCCCC (p.Pro959_Pro960insProProPro) c.2843_2844insCCCCCCCCC (p.Pro948_Pro949insProProPro) c.3056_3057insCCCCCCCCC (p.Pro1019_Pro1020insProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGG | CA2693794578 | IQSEC2 | c.3713_3714insCCCCCCCCCC (p.Pro1242ThrfsTer?) c.1453+651_1453+652insCCCCCCCCCC c.962+651_962+652insCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCC) n.534_535insCCCCCCCCCC c.*39_*40insCCCCCCCCCC (n.*39_*40insCCCCCCCCCC) c.3554_3555insCCCCCCCCCC (p.Pro1189ThrfsTer?) c.3524_3525insCCCCCCCCCC (p.Pro1179ThrfsTer?) c.3650_3651insCCCCCCCCCC (p.Pro1221ThrfsTer?) c.2939_2940insCCCCCCCCCC (p.Pro984ThrfsTer?) c.3597+651_3597+652insCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCC) c.2876_2877insCCCCCCCCCC (p.Pro963ThrfsTer?) c.2843_2844insCCCCCCCCCC (p.Pro952ThrfsTer?) c.3056_3057insCCCCCCCCCC (p.Pro1023ThrfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGG | CA2693794577 | IQSEC2 | c.3713_3714insCCCCCCCCCCC (p.Pro1242HisfsTer?) c.1453+651_1453+652insCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCC) n.534_535insCCCCCCCCCCC c.*39_*40insCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCC (p.Pro1189HisfsTer?) c.3524_3525insCCCCCCCCCCC (p.Pro1179HisfsTer?) c.3650_3651insCCCCCCCCCCC (p.Pro1221HisfsTer?) c.2939_2940insCCCCCCCCCCC (p.Pro984HisfsTer?) c.3597+651_3597+652insCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCC (p.Pro963HisfsTer?) c.2843_2844insCCCCCCCCCCC (p.Pro952HisfsTer?) c.3056_3057insCCCCCCCCCCC (p.Pro1023HisfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGG | CA641903982 | IQSEC2 | c.3713_3714insCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProPro) c.1453+651_1453+652insCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProPro) c.3524_3525insCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProPro) c.3650_3651insCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProPro) c.2939_2940insCCCCCCCCCCCC (p.Pro980_Pro981insProProProPro) c.3597+651_3597+652insCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCC (p.Pro959_Pro960insProProProPro) c.2843_2844insCCCCCCCCCCCC (p.Pro948_Pro949insProProProPro) c.3056_3057insCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGG | CA2693794576 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCC (p.Glu1243ThrfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCC (p.Glu1190ThrfsTer?) c.3524_3525insCCCCCCCCCCCCC (p.Glu1180ThrfsTer?) c.3650_3651insCCCCCCCCCCCCC (p.Glu1222ThrfsTer?) c.2939_2940insCCCCCCCCCCCCC (p.Glu985ThrfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCC (p.Glu964ThrfsTer?) c.2843_2844insCCCCCCCCCCCCC (p.Glu953ThrfsTer?) c.3056_3057insCCCCCCCCCCCCC (p.Glu1024ThrfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGG | CA1133160179 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCC (p.Glu1243HisfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCC (p.Glu1190HisfsTer?) c.3524_3525insCCCCCCCCCCCCCC (p.Glu1180HisfsTer?) c.3650_3651insCCCCCCCCCCCCCC (p.Glu1222HisfsTer?) c.2939_2940insCCCCCCCCCCCCCC (p.Glu985HisfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCC (p.Glu964HisfsTer?) c.2843_2844insCCCCCCCCCCCCCC (p.Glu953HisfsTer?) c.3056_3057insCCCCCCCCCCCCCC (p.Glu1024HisfsTer?) | gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGGG | CA2820950280 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProProPro) c.1453+651_1453+652insCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProProPro) c.3524_3525insCCCCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProProPro) c.3650_3651insCCCCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProProPro) c.2939_2940insCCCCCCCCCCCCCCC (p.Pro980_Pro981insProProProProPro) c.3597+651_3597+652insCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCC (p.Pro959_Pro960insProProProProPro) c.2843_2844insCCCCCCCCCCCCCCC (p.Pro948_Pro949insProProProProPro) c.3056_3057insCCCCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProProPro) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGGGG | CA2820950279 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGGGGGGGGG | CA2693794572 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGAGGGGGGGGGGGGGGGGGGG | CA2820950281 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1243LeufsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCTCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCTCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC) n.534_535insCCCCCCCCCCCCCCTCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1190LeufsTer?) c.3524_3525insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1180LeufsTer?) c.3650_3651insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1222LeufsTer?) c.2939_2940insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu985LeufsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu964LeufsTer?) c.2843_2844insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu953LeufsTer?) c.3056_3057insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1024LeufsTer?) | |
X | g.53235136_53235137insGCCTGGGGGGGGGGGGGGGGGGG | CA2820950282 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1024GlnfsTer?) | |
X | g.53235136_53235137insGCCTGGGGCTCTGGTCCCCCTGGGGGGGGGGGGGGGGGGG | CA2820950278 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1024GlnfsTer?) | |
X | g.53235136_53235137insGGGGGTGCTGGTTTTTGCCCTCCTGGGGGGGGGGGGGGGGGGG | CA2693794570 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGCCTGTGGTTGTGGTCCCCCTGGGGGGGGGGGGGGGGGGG | CA2693794597 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGCCCTGGGGCTTTTTTCCTCCTGGGGGGGGGGGGGGGGGGG | CA2693794580 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136dup | CA2693794596 | IQSEC2 | c.3713dup (p.Pro1239ThrfsTer?) c.1453+651dup c.962+651dup c.316+1190dup (n.316+1190dup) c.514+1190dup (n.514+1190dup) n.534dup c.*39dup (n.*39dup) c.3554dup (p.Pro1186ThrfsTer?) c.3524dup (p.Pro1176ThrfsTer?) c.3650dup (p.Pro1218ThrfsTer?) c.2939dup (p.Pro981ThrfsTer?) c.3597+651dup (n.3597+651dup) c.3547+1190dup (n.3547+1190dup) c.2876dup (p.Pro960ThrfsTer?) c.2843dup (p.Pro949ThrfsTer?) c.3056dup (p.Pro1020ThrfsTer?) | gnomAD v4 |
X | g.53235132_53235136dup | CA2693794593 | IQSEC2 | c.3709_3713dup (p.Pro1240HisfsTer?) c.1453+647_1453+651dup c.962+647_962+651dup c.316+1186_316+1190dup (n.316+1186_316+1190dup) c.514+1186_514+1190dup (n.514+1186_514+1190dup) n.530_534dup c.*35_*39dup (n.*35_*39dup) c.3550_3554dup (p.Pro1187HisfsTer?) c.3520_3524dup (p.Pro1177HisfsTer?) c.3646_3650dup (p.Pro1219HisfsTer?) c.2935_2939dup (p.Pro982HisfsTer?) c.3597+647_3597+651dup (n.3597+647_3597+651dup) c.3547+1186_3547+1190dup (n.3547+1186_3547+1190dup) c.2872_2876dup (p.Pro961HisfsTer?) c.2839_2843dup (p.Pro950HisfsTer?) c.3052_3056dup (p.Pro1021HisfsTer?) | gnomAD v4 |
X | g.53235136del | CA2582342908 | IQSEC2 | c.3713del (p.Pro1238HisfsTer?) c.1453+651del c.962+651del c.316+1190del (n.316+1190del) c.514+1190del (n.514+1190del) n.534del c.*39del (n.*39del) c.3554del (p.Pro1185HisfsTer?) c.3524del (p.Pro1175HisfsTer?) c.3650del (p.Pro1217HisfsTer?) c.2939del (p.Pro980HisfsTer?) c.3597+651del (n.3597+651del) c.3547+1190del (n.3547+1190del) c.2876del (p.Pro959HisfsTer?) c.2843del (p.Pro948HisfsTer?) c.3056del (p.Pro1019HisfsTer?) | ClinVar gnomAD v4 |
X | g.53235137_53235138insCCTGGGGGGGGGGGGGGGGGGGC | CA2693794590 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGCGG | CA641903979 | IQSEC2 | c.3713_3714insCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProPro) c.1453+651_1453+652insCCCCCCGCCCCC c.962+651_962+652insCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCGCCCCC) n.534_535insCCCCCCGCCCCC c.*39_*40insCCCCCCGCCCCC (n.*39_*40insCCCCCCGCCCCC) c.3554_3555insCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProPro) c.3524_3525insCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProPro) c.3650_3651insCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProPro) c.2939_2940insCCCCCCGCCCCC (p.Pro980_Pro981insProProProPro) c.3597+651_3597+652insCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCGCCCCC) c.2876_2877insCCCCCCGCCCCC (p.Pro959_Pro960insProProProPro) c.2843_2844insCCCCCCGCCCCC (p.Pro948_Pro949insProProProPro) c.3056_3057insCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGCGG | CA1133160175 | IQSEC2 | c.3713_3714insCCCCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProProPro) c.1453+651_1453+652insCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProProPro) c.3524_3525insCCCCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProProPro) c.3650_3651insCCCCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProProPro) c.2939_2940insCCCCCCCCCGCCCCC (p.Pro980_Pro981insProProProProPro) c.3597+651_3597+652insCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCGCCCCC (p.Pro959_Pro960insProProProProPro) c.2843_2844insCCCCCCCCCGCCCCC (p.Pro948_Pro949insProProProProPro) c.3056_3057insCCCCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProProPro) | gnomAD v3 gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGGGGGCGG | CA2693794587 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCGCCCCC (p.Glu1243AlafsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCCCCCGCCCCC (p.Glu1190AlafsTer?) c.3524_3525insCCCCCCCCCCCCCGCCCCC (p.Glu1180AlafsTer?) c.3650_3651insCCCCCCCCCCCCCGCCCCC (p.Glu1222AlafsTer?) c.2939_2940insCCCCCCCCCCCCCGCCCCC (p.Glu985AlafsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCCCCCGCCCCC (p.Glu964AlafsTer?) c.2843_2844insCCCCCCCCCCCCCGCCCCC (p.Glu953AlafsTer?) c.3056_3057insCCCCCCCCCCCCCGCCCCC (p.Glu1024AlafsTer?) | gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGGGGGGGGCGG | CA2693794574 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCGCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCGCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCGCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235134_53235139del | CA2693794568 | IQSEC2 | c.3708_3713del (p.Pro1237_Pro1238del) c.1453+646_1453+651del c.962+646_962+651del c.316+1185_316+1190del (n.316+1185_316+1190del) c.514+1185_514+1190del (n.514+1185_514+1190del) n.529_534del c.*34_*39del (n.*34_*39del) c.3549_3554del (p.Pro1184_Pro1185del) c.3519_3524del (p.Pro1174_Pro1175del) c.3645_3650del (p.Pro1216_Pro1217del) c.2934_2939del (p.Pro979_Pro980del) c.3597+646_3597+651del (n.3597+646_3597+651del) c.3547+1185_3547+1190del (n.3547+1185_3547+1190del) c.2871_2876del (p.Pro958_Pro959del) c.2838_2843del (p.Pro947_Pro948del) c.3051_3056del (p.Pro1018_Pro1019del) | gnomAD v4 |
X | g.53235133G>A | CA413142484 | IQSEC2 | c.3712C>T (p.Pro1238Ser) c.1453+650C>T c.962+650C>T c.316+1189C>T (n.316+1189C>T) c.514+1189C>T (n.514+1189C>T) n.533C>T c.*38C>T (n.*38C>T) c.3553C>T (p.Pro1185Ser) c.3523C>T (p.Pro1175Ser) c.3649C>T (p.Pro1217Ser) c.2938C>T (p.Pro980Ser) c.3597+650C>T (n.3597+650C>T) c.3547+1189C>T (n.3547+1189C>T) c.2875C>T (p.Pro959Ser) c.2842C>T (p.Pro948Ser) c.3055C>T (p.Pro1019Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235133G>C | CA413142487 | IQSEC2 | c.3712C>G (p.Pro1238Ala) c.1453+650C>G c.962+650C>G c.316+1189C>G (n.316+1189C>G) c.514+1189C>G (n.514+1189C>G) n.533C>G c.*38C>G (n.*38C>G) c.3553C>G (p.Pro1185Ala) c.3523C>G (p.Pro1175Ala) c.3649C>G (p.Pro1217Ala) c.2938C>G (p.Pro980Ala) c.3597+650C>G (n.3597+650C>G) c.3547+1189C>G (n.3547+1189C>G) c.2875C>G (p.Pro959Ala) c.2842C>G (p.Pro948Ala) c.3055C>G (p.Pro1019Ala) | |
X | g.53235133G= | CA2429770707 | IQSEC2 | c.3712C= (p.Pro1238=) c.1453+650C= c.962+650C= c.316+1189C= (n.316+1189C=) c.514+1189C= (n.514+1189C=) n.533C= c.*38C= (n.*38C=) c.3553C= (p.Pro1185=) c.3523C= (p.Pro1175=) c.3649C= (p.Pro1217=) c.2938C= (p.Pro980=) c.3597+650C= (n.3597+650C=) c.3547+1189C= (n.3547+1189C=) c.2875C= (p.Pro959=) c.2842C= (p.Pro948=) c.3055C= (p.Pro1019=) | |
X | g.53235133G>T | CA413142488 | IQSEC2 | c.3712C>A (p.Pro1238Thr) c.1453+650C>A c.962+650C>A c.316+1189C>A (n.316+1189C>A) c.514+1189C>A (n.514+1189C>A) n.533C>A c.*38C>A (n.*38C>A) c.3553C>A (p.Pro1185Thr) c.3523C>A (p.Pro1175Thr) c.3649C>A (p.Pro1217Thr) c.2938C>A (p.Pro980Thr) c.3597+650C>A (n.3597+650C>A) c.3547+1189C>A (n.3547+1189C>A) c.2875C>A (p.Pro959Thr) c.2842C>A (p.Pro948Thr) c.3055C>A (p.Pro1019Thr) | gnomAD v4 |
X | g.53235134G>A | CA516674049 | IQSEC2 | c.3711C>T (p.Pro1237=) c.1453+649C>T c.962+649C>T c.316+1188C>T (n.316+1188C>T) c.514+1188C>T (n.514+1188C>T) n.532C>T c.*37C>T (n.*37C>T) c.3552C>T (p.Pro1184=) c.3522C>T (p.Pro1174=) c.3648C>T (p.Pro1216=) c.2937C>T (p.Pro979=) c.3597+649C>T (n.3597+649C>T) c.3547+1188C>T (n.3547+1188C>T) c.2874C>T (p.Pro958=) c.2841C>T (p.Pro947=) c.3054C>T (p.Pro1018=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235134G>C | CA516674050 | IQSEC2 | c.3711C>G (p.Pro1237=) c.1453+649C>G c.962+649C>G c.316+1188C>G (n.316+1188C>G) c.514+1188C>G (n.514+1188C>G) n.532C>G c.*37C>G (n.*37C>G) c.3552C>G (p.Pro1184=) c.3522C>G (p.Pro1174=) c.3648C>G (p.Pro1216=) c.2937C>G (p.Pro979=) c.3597+649C>G (n.3597+649C>G) c.3547+1188C>G (n.3547+1188C>G) c.2874C>G (p.Pro958=) c.2841C>G (p.Pro947=) c.3054C>G (p.Pro1018=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235134G= | CA2429770708 | IQSEC2 | c.3711C= (p.Pro1237=) c.1453+649C= c.962+649C= c.316+1188C= (n.316+1188C=) c.514+1188C= (n.514+1188C=) n.532C= c.*37C= (n.*37C=) c.3552C= (p.Pro1184=) c.3522C= (p.Pro1174=) c.3648C= (p.Pro1216=) c.2937C= (p.Pro979=) c.3597+649C= (n.3597+649C=) c.3547+1188C= (n.3547+1188C=) c.2874C= (p.Pro958=) c.2841C= (p.Pro947=) c.3054C= (p.Pro1018=) | |
X | g.53235134G>T | CA516674051 | IQSEC2 | c.3711C>A (p.Pro1237=) c.1453+649C>A c.962+649C>A c.316+1188C>A (n.316+1188C>A) c.514+1188C>A (n.514+1188C>A) n.532C>A c.*37C>A (n.*37C>A) c.3552C>A (p.Pro1184=) c.3522C>A (p.Pro1174=) c.3648C>A (p.Pro1216=) c.2937C>A (p.Pro979=) c.3597+649C>A (n.3597+649C>A) c.3547+1188C>A (n.3547+1188C>A) c.2874C>A (p.Pro958=) c.2841C>A (p.Pro947=) c.3054C>A (p.Pro1018=) | gnomAD v4 |
X | g.53235135G>A | CA413142489 | IQSEC2 | c.3710C>T (p.Pro1237Leu) c.1453+648C>T c.962+648C>T c.316+1187C>T (n.316+1187C>T) c.514+1187C>T (n.514+1187C>T) n.531C>T c.*36C>T (n.*36C>T) c.3551C>T (p.Pro1184Leu) c.3521C>T (p.Pro1174Leu) c.3647C>T (p.Pro1216Leu) c.2936C>T (p.Pro979Leu) c.3597+648C>T (n.3597+648C>T) c.3547+1187C>T (n.3547+1187C>T) c.2873C>T (p.Pro958Leu) c.2840C>T (p.Pro947Leu) c.3053C>T (p.Pro1018Leu) | gnomAD v4 |
X | g.53235135G>C | CA413142490 | IQSEC2 | c.3710C>G (p.Pro1237Arg) c.1453+648C>G c.962+648C>G c.316+1187C>G (n.316+1187C>G) c.514+1187C>G (n.514+1187C>G) n.531C>G c.*36C>G (n.*36C>G) c.3551C>G (p.Pro1184Arg) c.3521C>G (p.Pro1174Arg) c.3647C>G (p.Pro1216Arg) c.2936C>G (p.Pro979Arg) c.3597+648C>G (n.3597+648C>G) c.3547+1187C>G (n.3547+1187C>G) c.2873C>G (p.Pro958Arg) c.2840C>G (p.Pro947Arg) c.3053C>G (p.Pro1018Arg) | |
X | g.53235135G>T | CA413142492 | IQSEC2 | c.3710C>A (p.Pro1237His) c.1453+648C>A c.962+648C>A c.316+1187C>A (n.316+1187C>A) c.514+1187C>A (n.514+1187C>A) n.531C>A c.*36C>A (n.*36C>A) c.3551C>A (p.Pro1184His) c.3521C>A (p.Pro1174His) c.3647C>A (p.Pro1216His) c.2936C>A (p.Pro979His) c.3597+648C>A (n.3597+648C>A) c.3547+1187C>A (n.3547+1187C>A) c.2873C>A (p.Pro958His) c.2840C>A (p.Pro947His) c.3053C>A (p.Pro1018His) | gnomAD v4 |
X | g.53235135_53235146del | CA2693794609 | IQSEC2 | c.3699_3710del (p.Met1233_Pro1237delinsIle) c.1453+637_1453+648del c.962+637_962+648del c.316+1176_316+1187del (n.316+1176_316+1187del) c.514+1176_514+1187del (n.514+1176_514+1187del) n.520_531del c.*25_*36del (n.*25_*36del) c.3540_3551del (p.Met1180_Pro1184delinsIle) c.3510_3521del (p.Met1170_Pro1174delinsIle) c.3636_3647del (p.Met1212_Pro1216delinsIle) c.2925_2936del (p.Met975_Pro979delinsIle) c.3597+637_3597+648del (n.3597+637_3597+648del) c.3547+1176_3547+1187del (n.3547+1176_3547+1187del) c.2862_2873del (p.Met954_Pro958delinsIle) c.2829_2840del (p.Met943_Pro947delinsIle) c.3042_3053del (p.Met1014_Pro1018delinsIle) | gnomAD v4 |
X | g.53235138_53235146del | CA2693794608 | IQSEC2 | c.3702_3710del (p.Pro1235_Pro1237del) c.1453+640_1453+648del c.962+640_962+648del c.316+1179_316+1187del (n.316+1179_316+1187del) c.514+1179_514+1187del (n.514+1179_514+1187del) n.523_531del c.*28_*36del (n.*28_*36del) c.3543_3551del (p.Pro1182_Pro1184del) c.3513_3521del (p.Pro1172_Pro1174del) c.3639_3647del (p.Pro1214_Pro1216del) c.2928_2936del (p.Pro977_Pro979del) c.3597+640_3597+648del (n.3597+640_3597+648del) c.3547+1179_3547+1187del (n.3547+1179_3547+1187del) c.2865_2873del (p.Pro956_Pro958del) c.2832_2840del (p.Pro945_Pro947del) c.3045_3053del (p.Pro1016_Pro1018del) | gnomAD v4 |
X | g.53235136G>A | CA413142494 | IQSEC2 | c.3709C>T (p.Pro1237Ser) c.1453+647C>T c.962+647C>T c.316+1186C>T (n.316+1186C>T) c.514+1186C>T (n.514+1186C>T) n.530C>T c.*35C>T (n.*35C>T) c.3550C>T (p.Pro1184Ser) c.3520C>T (p.Pro1174Ser) c.3646C>T (p.Pro1216Ser) c.2935C>T (p.Pro979Ser) c.3597+647C>T (n.3597+647C>T) c.3547+1186C>T (n.3547+1186C>T) c.2872C>T (p.Pro958Ser) c.2839C>T (p.Pro947Ser) c.3052C>T (p.Pro1018Ser) | gnomAD v4 |
X | g.53235136G>C | CA413142495 | IQSEC2 | c.3709C>G (p.Pro1237Ala) c.1453+647C>G c.962+647C>G c.316+1186C>G (n.316+1186C>G) c.514+1186C>G (n.514+1186C>G) n.530C>G c.*35C>G (n.*35C>G) c.3550C>G (p.Pro1184Ala) c.3520C>G (p.Pro1174Ala) c.3646C>G (p.Pro1216Ala) c.2935C>G (p.Pro979Ala) c.3597+647C>G (n.3597+647C>G) c.3547+1186C>G (n.3547+1186C>G) c.2872C>G (p.Pro958Ala) c.2839C>G (p.Pro947Ala) c.3052C>G (p.Pro1018Ala) | gnomAD v4 |
X | g.53235136G>T | CA413142497 | IQSEC2 | c.3709C>A (p.Pro1237Thr) c.1453+647C>A c.962+647C>A c.316+1186C>A (n.316+1186C>A) c.514+1186C>A (n.514+1186C>A) n.530C>A c.*35C>A (n.*35C>A) c.3550C>A (p.Pro1184Thr) c.3520C>A (p.Pro1174Thr) c.3646C>A (p.Pro1216Thr) c.2935C>A (p.Pro979Thr) c.3597+647C>A (n.3597+647C>A) c.3547+1186C>A (n.3547+1186C>A) c.2872C>A (p.Pro958Thr) c.2839C>A (p.Pro947Thr) c.3052C>A (p.Pro1018Thr) | gnomAD v4 |
X | g.53235136_53235137insGC | CA2693794618 | IQSEC2 | c.3708_3709insGC (p.Pro1237AlafsTer?) c.1453+646_1453+647insGC c.962+646_962+647insGC c.316+1185_316+1186insGC (n.316+1185_316+1186insGC) c.514+1185_514+1186insGC (n.514+1185_514+1186insGC) n.529_530insGC c.*34_*35insGC (n.*34_*35insGC) c.3549_3550insGC (p.Pro1184AlafsTer?) c.3519_3520insGC (p.Pro1174AlafsTer?) c.3645_3646insGC (p.Pro1216AlafsTer?) c.2934_2935insGC (p.Pro979AlafsTer?) c.3597+646_3597+647insGC (n.3597+646_3597+647insGC) c.3547+1185_3547+1186insGC (n.3547+1185_3547+1186insGC) c.2871_2872insGC (p.Pro958AlafsTer?) c.2838_2839insGC (p.Pro947AlafsTer?) c.3051_3052insGC (p.Pro1018AlafsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGC | CA2693794620 | IQSEC2 | c.3708_3709insGCC (p.Pro1236_Pro1237insAla) c.1453+646_1453+647insGCC c.962+646_962+647insGCC c.316+1185_316+1186insGCC (n.316+1185_316+1186insGCC) c.514+1185_514+1186insGCC (n.514+1185_514+1186insGCC) n.529_530insGCC c.*34_*35insGCC (n.*34_*35insGCC) c.3549_3550insGCC (p.Pro1183_Pro1184insAla) c.3519_3520insGCC (p.Pro1173_Pro1174insAla) c.3645_3646insGCC (p.Pro1215_Pro1216insAla) c.2934_2935insGCC (p.Pro978_Pro979insAla) c.3597+646_3597+647insGCC (n.3597+646_3597+647insGCC) c.3547+1185_3547+1186insGCC (n.3547+1185_3547+1186insGCC) c.2871_2872insGCC (p.Pro957_Pro958insAla) c.2838_2839insGCC (p.Pro946_Pro947insAla) c.3051_3052insGCC (p.Pro1017_Pro1018insAla) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGC | CA2820950283 | IQSEC2 | c.3708_3709insGCCCCCCCCCCCCC (p.Pro1237AlafsTer?) c.1453+646_1453+647insGCCCCCCCCCCCCC c.962+646_962+647insGCCCCCCCCCCCCC c.316+1185_316+1186insGCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCC) c.514+1185_514+1186insGCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCC) n.529_530insGCCCCCCCCCCCCC c.*34_*35insGCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCC) c.3549_3550insGCCCCCCCCCCCCC (p.Pro1184AlafsTer?) c.3519_3520insGCCCCCCCCCCCCC (p.Pro1174AlafsTer?) c.3645_3646insGCCCCCCCCCCCCC (p.Pro1216AlafsTer?) c.2934_2935insGCCCCCCCCCCCCC (p.Pro979AlafsTer?) c.3597+646_3597+647insGCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCC) c.3547+1185_3547+1186insGCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCC) c.2871_2872insGCCCCCCCCCCCCC (p.Pro958AlafsTer?) c.2838_2839insGCCCCCCCCCCCCC (p.Pro947AlafsTer?) c.3051_3052insGCCCCCCCCCCCCC (p.Pro1018AlafsTer?) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGC | CA2693794621 | IQSEC2 | c.3708_3709insGCCCCCCCCCCCCCC (p.Pro1236_Pro1237insAlaProProProPro) c.1453+646_1453+647insGCCCCCCCCCCCCCC c.962+646_962+647insGCCCCCCCCCCCCCC c.316+1185_316+1186insGCCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCCC) c.514+1185_514+1186insGCCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCCC) n.529_530insGCCCCCCCCCCCCCC c.*34_*35insGCCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCCC) c.3549_3550insGCCCCCCCCCCCCCC (p.Pro1183_Pro1184insAlaProProProPro) c.3519_3520insGCCCCCCCCCCCCCC (p.Pro1173_Pro1174insAlaProProProPro) c.3645_3646insGCCCCCCCCCCCCCC (p.Pro1215_Pro1216insAlaProProProPro) c.2934_2935insGCCCCCCCCCCCCCC (p.Pro978_Pro979insAlaProProProPro) c.3597+646_3597+647insGCCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCCC) c.3547+1185_3547+1186insGCCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCCC) c.2871_2872insGCCCCCCCCCCCCCC (p.Pro957_Pro958insAlaProProProPro) c.2838_2839insGCCCCCCCCCCCCCC (p.Pro946_Pro947insAlaProProProPro) c.3051_3052insGCCCCCCCCCCCCCC (p.Pro1017_Pro1018insAlaProProProPro) | gnomAD v4 |
X | g.53235137C>A | CA516674054 | IQSEC2 | c.3708G>T (p.Pro1236=) c.1453+646G>T c.962+646G>T c.316+1185G>T (n.316+1185G>T) c.514+1185G>T (n.514+1185G>T) n.529G>T c.*34G>T (n.*34G>T) c.3549G>T (p.Pro1183=) c.3519G>T (p.Pro1173=) c.3645G>T (p.Pro1215=) c.2934G>T (p.Pro978=) c.3597+646G>T (n.3597+646G>T) c.3547+1185G>T (n.3547+1185G>T) c.2871G>T (p.Pro957=) c.2838G>T (p.Pro946=) c.3051G>T (p.Pro1017=) | |
X | g.53235137C= | CA2429770709 | IQSEC2 | c.3708G= (p.Pro1236=) c.1453+646G= c.962+646G= c.316+1185G= (n.316+1185G=) c.514+1185G= (n.514+1185G=) n.529G= c.*34G= (n.*34G=) c.3549G= (p.Pro1183=) c.3519G= (p.Pro1173=) c.3645G= (p.Pro1215=) c.2934G= (p.Pro978=) c.3597+646G= (n.3597+646G=) c.3547+1185G= (n.3547+1185G=) c.2871G= (p.Pro957=) c.2838G= (p.Pro946=) c.3051G= (p.Pro1017=) | |
X | g.53235137C>G | CA516674055 | IQSEC2 | c.3708G>C (p.Pro1236=) c.1453+646G>C c.962+646G>C c.316+1185G>C (n.316+1185G>C) c.514+1185G>C (n.514+1185G>C) n.529G>C c.*34G>C (n.*34G>C) c.3549G>C (p.Pro1183=) c.3519G>C (p.Pro1173=) c.3645G>C (p.Pro1215=) c.2934G>C (p.Pro978=) c.3597+646G>C (n.3597+646G>C) c.3547+1185G>C (n.3547+1185G>C) c.2871G>C (p.Pro957=) c.2838G>C (p.Pro946=) c.3051G>C (p.Pro1017=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235137C>T | CA329162221 | IQSEC2 | c.3708G>A (p.Pro1236=) c.1453+646G>A c.962+646G>A c.316+1185G>A (n.316+1185G>A) c.514+1185G>A (n.514+1185G>A) n.529G>A c.*34G>A (n.*34G>A) c.3549G>A (p.Pro1183=) c.3519G>A (p.Pro1173=) c.3645G>A (p.Pro1215=) c.2934G>A (p.Pro978=) c.3597+646G>A (n.3597+646G>A) c.3547+1185G>A (n.3547+1185G>A) c.2871G>A (p.Pro957=) c.2838G>A (p.Pro946=) c.3051G>A (p.Pro1017=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235137dup | CA2693794623 | IQSEC2 | c.3708dup (p.Pro1237AlafsTer?) c.1453+646dup c.962+646dup c.316+1185dup (n.316+1185dup) c.514+1185dup (n.514+1185dup) n.529dup c.*34dup (n.*34dup) c.3549dup (p.Pro1184AlafsTer?) c.3519dup (p.Pro1174AlafsTer?) c.3645dup (p.Pro1216AlafsTer?) c.2934dup (p.Pro979AlafsTer?) c.3597+646dup (n.3597+646dup) c.3547+1185dup (n.3547+1185dup) c.2871dup (p.Pro958AlafsTer?) c.2838dup (p.Pro947AlafsTer?) c.3051dup (p.Pro1018AlafsTer?) | gnomAD v4 |
X | g.53235138G>A | CA413142507 | IQSEC2 | c.3707C>T (p.Pro1236Leu) c.1453+645C>T c.962+645C>T c.316+1184C>T (n.316+1184C>T) c.514+1184C>T (n.514+1184C>T) n.528C>T c.*33C>T (n.*33C>T) c.3548C>T (p.Pro1183Leu) c.3518C>T (p.Pro1173Leu) c.3644C>T (p.Pro1215Leu) c.2933C>T (p.Pro978Leu) c.3597+645C>T (n.3597+645C>T) c.3547+1184C>T (n.3547+1184C>T) c.2870C>T (p.Pro957Leu) c.2837C>T (p.Pro946Leu) c.3050C>T (p.Pro1017Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235138G>C | CA413142516 | IQSEC2 | c.3707C>G (p.Pro1236Arg) c.1453+645C>G c.962+645C>G c.316+1184C>G (n.316+1184C>G) c.514+1184C>G (n.514+1184C>G) n.528C>G c.*33C>G (n.*33C>G) c.3548C>G (p.Pro1183Arg) c.3518C>G (p.Pro1173Arg) c.3644C>G (p.Pro1215Arg) c.2933C>G (p.Pro978Arg) c.3597+645C>G (n.3597+645C>G) c.3547+1184C>G (n.3547+1184C>G) c.2870C>G (p.Pro957Arg) c.2837C>G (p.Pro946Arg) c.3050C>G (p.Pro1017Arg) | gnomAD v4 |
X | g.53235138G= | CA2429770710 | IQSEC2 | c.3707C= (p.Pro1236=) c.1453+645C= c.962+645C= c.316+1184C= (n.316+1184C=) c.514+1184C= (n.514+1184C=) n.528C= c.*33C= (n.*33C=) c.3548C= (p.Pro1183=) c.3518C= (p.Pro1173=) c.3644C= (p.Pro1215=) c.2933C= (p.Pro978=) c.3597+645C= (n.3597+645C=) c.3547+1184C= (n.3547+1184C=) c.2870C= (p.Pro957=) c.2837C= (p.Pro946=) c.3050C= (p.Pro1017=) | |
X | g.53235138G>T | CA413142511 | IQSEC2 | c.3707C>A (p.Pro1236Gln) c.1453+645C>A c.962+645C>A c.316+1184C>A (n.316+1184C>A) c.514+1184C>A (n.514+1184C>A) n.528C>A c.*33C>A (n.*33C>A) c.3548C>A (p.Pro1183Gln) c.3518C>A (p.Pro1173Gln) c.3644C>A (p.Pro1215Gln) c.2933C>A (p.Pro978Gln) c.3597+645C>A (n.3597+645C>A) c.3547+1184C>A (n.3547+1184C>A) c.2870C>A (p.Pro957Gln) c.2837C>A (p.Pro946Gln) c.3050C>A (p.Pro1017Gln) | gnomAD v4 |
X | g.53235139G>A | CA413142519 | IQSEC2 | c.3706C>T (p.Pro1236Ser) c.1453+644C>T c.962+644C>T c.316+1183C>T (n.316+1183C>T) c.514+1183C>T (n.514+1183C>T) n.527C>T c.*32C>T (n.*32C>T) c.3547C>T (p.Pro1183Ser) c.3517C>T (p.Pro1173Ser) c.3643C>T (p.Pro1215Ser) c.2932C>T (p.Pro978Ser) c.3597+644C>T (n.3597+644C>T) c.3547+1183C>T (n.3547+1183C>T) c.2869C>T (p.Pro957Ser) c.2836C>T (p.Pro946Ser) c.3049C>T (p.Pro1017Ser) | |
X | g.53235139G>C | CA413142522 | IQSEC2 | c.3706C>G (p.Pro1236Ala) c.1453+644C>G c.962+644C>G c.316+1183C>G (n.316+1183C>G) c.514+1183C>G (n.514+1183C>G) n.527C>G c.*32C>G (n.*32C>G) c.3547C>G (p.Pro1183Ala) c.3517C>G (p.Pro1173Ala) c.3643C>G (p.Pro1215Ala) c.2932C>G (p.Pro978Ala) c.3597+644C>G (n.3597+644C>G) c.3547+1183C>G (n.3547+1183C>G) c.2869C>G (p.Pro957Ala) c.2836C>G (p.Pro946Ala) c.3049C>G (p.Pro1017Ala) | gnomAD v4 |
X | g.53235139G>T | CA413142524 | IQSEC2 | c.3706C>A (p.Pro1236Thr) c.1453+644C>A c.962+644C>A c.316+1183C>A (n.316+1183C>A) c.514+1183C>A (n.514+1183C>A) n.527C>A c.*32C>A (n.*32C>A) c.3547C>A (p.Pro1183Thr) c.3517C>A (p.Pro1173Thr) c.3643C>A (p.Pro1215Thr) c.2932C>A (p.Pro978Thr) c.3597+644C>A (n.3597+644C>A) c.3547+1183C>A (n.3547+1183C>A) c.2869C>A (p.Pro957Thr) c.2836C>A (p.Pro946Thr) c.3049C>A (p.Pro1017Thr) | gnomAD v4 |
X | g.53235140A= | CA2429770711 | IQSEC2 | c.3705T= (p.Pro1235=) c.1453+643T= c.962+643T= c.316+1182T= (n.316+1182T=) c.514+1182T= (n.514+1182T=) n.526T= c.*31T= (n.*31T=) c.3546T= (p.Pro1182=) c.3516T= (p.Pro1172=) c.3642T= (p.Pro1214=) c.2931T= (p.Pro977=) c.3597+643T= (n.3597+643T=) c.3547+1182T= (n.3547+1182T=) c.2868T= (p.Pro956=) c.2835T= (p.Pro945=) c.3048T= (p.Pro1016=) | |
X | g.53235140A>C | CA516674059 | IQSEC2 | c.3705T>G (p.Pro1235=) c.1453+643T>G c.962+643T>G c.316+1182T>G (n.316+1182T>G) c.514+1182T>G (n.514+1182T>G) n.526T>G c.*31T>G (n.*31T>G) c.3546T>G (p.Pro1182=) c.3516T>G (p.Pro1172=) c.3642T>G (p.Pro1214=) c.2931T>G (p.Pro977=) c.3597+643T>G (n.3597+643T>G) c.3547+1182T>G (n.3547+1182T>G) c.2868T>G (p.Pro956=) c.2835T>G (p.Pro945=) c.3048T>G (p.Pro1016=) | ClinVar dbSNP gnomAD v4 |
X | g.53235140A>G | CA516674061 | IQSEC2 | c.3705T>C (p.Pro1235=) c.1453+643T>C c.962+643T>C c.316+1182T>C (n.316+1182T>C) c.514+1182T>C (n.514+1182T>C) n.526T>C c.*31T>C (n.*31T>C) c.3546T>C (p.Pro1182=) c.3516T>C (p.Pro1172=) c.3642T>C (p.Pro1214=) c.2931T>C (p.Pro977=) c.3597+643T>C (n.3597+643T>C) c.3547+1182T>C (n.3547+1182T>C) c.2868T>C (p.Pro956=) c.2835T>C (p.Pro945=) c.3048T>C (p.Pro1016=) | gnomAD v3 gnomAD v4 |
X | g.53235140A>T | CA516674063 | IQSEC2 | c.3705T>A (p.Pro1235=) c.1453+643T>A c.962+643T>A c.316+1182T>A (n.316+1182T>A) c.514+1182T>A (n.514+1182T>A) n.526T>A c.*31T>A (n.*31T>A) c.3546T>A (p.Pro1182=) c.3516T>A (p.Pro1172=) c.3642T>A (p.Pro1214=) c.2931T>A (p.Pro977=) c.3597+643T>A (n.3597+643T>A) c.3547+1182T>A (n.3547+1182T>A) c.2868T>A (p.Pro956=) c.2835T>A (p.Pro945=) c.3048T>A (p.Pro1016=) | gnomAD v4 |
X | g.53235141G>A | CA413142530 | IQSEC2 | c.3704C>T (p.Pro1235Leu) c.1453+642C>T c.962+642C>T c.316+1181C>T (n.316+1181C>T) c.514+1181C>T (n.514+1181C>T) n.525C>T c.*30C>T (n.*30C>T) c.3545C>T (p.Pro1182Leu) c.3515C>T (p.Pro1172Leu) c.3641C>T (p.Pro1214Leu) c.2930C>T (p.Pro977Leu) c.3597+642C>T (n.3597+642C>T) c.3547+1181C>T (n.3547+1181C>T) c.2867C>T (p.Pro956Leu) c.2834C>T (p.Pro945Leu) c.3047C>T (p.Pro1016Leu) | |
X | g.53235141G>C | CA413142534 | IQSEC2 | c.3704C>G (p.Pro1235Arg) c.1453+642C>G c.962+642C>G c.316+1181C>G (n.316+1181C>G) c.514+1181C>G (n.514+1181C>G) n.525C>G c.*30C>G (n.*30C>G) c.3545C>G (p.Pro1182Arg) c.3515C>G (p.Pro1172Arg) c.3641C>G (p.Pro1214Arg) c.2930C>G (p.Pro977Arg) c.3597+642C>G (n.3597+642C>G) c.3547+1181C>G (n.3547+1181C>G) c.2867C>G (p.Pro956Arg) c.2834C>G (p.Pro945Arg) c.3047C>G (p.Pro1016Arg) | |
X | g.53235141G>T | CA413142538 | IQSEC2 | c.3704C>A (p.Pro1235His) c.1453+642C>A c.962+642C>A c.316+1181C>A (n.316+1181C>A) c.514+1181C>A (n.514+1181C>A) n.525C>A c.*30C>A (n.*30C>A) c.3545C>A (p.Pro1182His) c.3515C>A (p.Pro1172His) c.3641C>A (p.Pro1214His) c.2930C>A (p.Pro977His) c.3597+642C>A (n.3597+642C>A) c.3547+1181C>A (n.3547+1181C>A) c.2867C>A (p.Pro956His) c.2834C>A (p.Pro945His) c.3047C>A (p.Pro1016His) | gnomAD v4 |
X | g.53235142G>A | CA413142546 | IQSEC2 | c.3703C>T (p.Pro1235Ser) c.1453+641C>T c.962+641C>T c.316+1180C>T (n.316+1180C>T) c.514+1180C>T (n.514+1180C>T) n.524C>T c.*29C>T (n.*29C>T) c.3544C>T (p.Pro1182Ser) c.3514C>T (p.Pro1172Ser) c.3640C>T (p.Pro1214Ser) c.2929C>T (p.Pro977Ser) c.3597+641C>T (n.3597+641C>T) c.3547+1180C>T (n.3547+1180C>T) c.2866C>T (p.Pro956Ser) c.2833C>T (p.Pro945Ser) c.3046C>T (p.Pro1016Ser) | |
X | g.53235142G>C | CA413142548 | IQSEC2 | c.3703C>G (p.Pro1235Ala) c.1453+641C>G c.962+641C>G c.316+1180C>G (n.316+1180C>G) c.514+1180C>G (n.514+1180C>G) n.524C>G c.*29C>G (n.*29C>G) c.3544C>G (p.Pro1182Ala) c.3514C>G (p.Pro1172Ala) c.3640C>G (p.Pro1214Ala) c.2929C>G (p.Pro977Ala) c.3597+641C>G (n.3597+641C>G) c.3547+1180C>G (n.3547+1180C>G) c.2866C>G (p.Pro956Ala) c.2833C>G (p.Pro945Ala) c.3046C>G (p.Pro1016Ala) | |
X | g.53235142G>T | CA413142550 | IQSEC2 | c.3703C>A (p.Pro1235Thr) c.1453+641C>A c.962+641C>A c.316+1180C>A (n.316+1180C>A) c.514+1180C>A (n.514+1180C>A) n.524C>A c.*29C>A (n.*29C>A) c.3544C>A (p.Pro1182Thr) c.3514C>A (p.Pro1172Thr) c.3640C>A (p.Pro1214Thr) c.2929C>A (p.Pro977Thr) c.3597+641C>A (n.3597+641C>A) c.3547+1180C>A (n.3547+1180C>A) c.2866C>A (p.Pro956Thr) c.2833C>A (p.Pro945Thr) c.3046C>A (p.Pro1016Thr) | gnomAD v4 |
X | g.53235143T>A | CA516674065 | IQSEC2 | c.3702A>T (p.Pro1234=) c.1453+640A>T c.962+640A>T c.316+1179A>T (n.316+1179A>T) c.514+1179A>T (n.514+1179A>T) n.523A>T c.*28A>T (n.*28A>T) c.3543A>T (p.Pro1181=) c.3513A>T (p.Pro1171=) c.3639A>T (p.Pro1213=) c.2928A>T (p.Pro976=) c.3597+640A>T (n.3597+640A>T) c.3547+1179A>T (n.3547+1179A>T) c.2865A>T (p.Pro955=) c.2832A>T (p.Pro944=) c.3045A>T (p.Pro1015=) | gnomAD v4 |
X | g.53235143T>C | CA516674067 | IQSEC2 | c.3702A>G (p.Pro1234=) c.1453+640A>G c.962+640A>G c.316+1179A>G (n.316+1179A>G) c.514+1179A>G (n.514+1179A>G) n.523A>G c.*28A>G (n.*28A>G) c.3543A>G (p.Pro1181=) c.3513A>G (p.Pro1171=) c.3639A>G (p.Pro1213=) c.2928A>G (p.Pro976=) c.3597+640A>G (n.3597+640A>G) c.3547+1179A>G (n.3547+1179A>G) c.2865A>G (p.Pro955=) c.2832A>G (p.Pro944=) c.3045A>G (p.Pro1015=) | gnomAD v4 |
X | g.53235143T>G | CA516674068 | IQSEC2 | c.3702A>C (p.Pro1234=) c.1453+640A>C c.962+640A>C c.316+1179A>C (n.316+1179A>C) c.514+1179A>C (n.514+1179A>C) n.523A>C c.*28A>C (n.*28A>C) c.3543A>C (p.Pro1181=) c.3513A>C (p.Pro1171=) c.3639A>C (p.Pro1213=) c.2928A>C (p.Pro976=) c.3597+640A>C (n.3597+640A>C) c.3547+1179A>C (n.3547+1179A>C) c.2865A>C (p.Pro955=) c.2832A>C (p.Pro944=) c.3045A>C (p.Pro1015=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.53235144G>A | CA413142577 | IQSEC2 | c.3701C>T (p.Pro1234Leu) c.1453+639C>T c.962+639C>T c.316+1178C>T (n.316+1178C>T) c.514+1178C>T (n.514+1178C>T) n.522C>T c.*27C>T (n.*27C>T) c.3542C>T (p.Pro1181Leu) c.3512C>T (p.Pro1171Leu) c.3638C>T (p.Pro1213Leu) c.2927C>T (p.Pro976Leu) c.3597+639C>T (n.3597+639C>T) c.3547+1178C>T (n.3547+1178C>T) c.2864C>T (p.Pro955Leu) c.2831C>T (p.Pro944Leu) c.3044C>T (p.Pro1015Leu) | gnomAD v4 |
X | g.53235144G>C | CA413142573 | IQSEC2 | c.3701C>G (p.Pro1234Arg) c.1453+639C>G c.962+639C>G c.316+1178C>G (n.316+1178C>G) c.514+1178C>G (n.514+1178C>G) n.522C>G c.*27C>G (n.*27C>G) c.3542C>G (p.Pro1181Arg) c.3512C>G (p.Pro1171Arg) c.3638C>G (p.Pro1213Arg) c.2927C>G (p.Pro976Arg) c.3597+639C>G (n.3597+639C>G) c.3547+1178C>G (n.3547+1178C>G) c.2864C>G (p.Pro955Arg) c.2831C>G (p.Pro944Arg) c.3044C>G (p.Pro1015Arg) | |
X | g.53235144G>T | CA413142570 | IQSEC2 | c.3701C>A (p.Pro1234Gln) c.1453+639C>A c.962+639C>A c.316+1178C>A (n.316+1178C>A) c.514+1178C>A (n.514+1178C>A) n.522C>A c.*27C>A (n.*27C>A) c.3542C>A (p.Pro1181Gln) c.3512C>A (p.Pro1171Gln) c.3638C>A (p.Pro1213Gln) c.2927C>A (p.Pro976Gln) c.3597+639C>A (n.3597+639C>A) c.3547+1178C>A (n.3547+1178C>A) c.2864C>A (p.Pro955Gln) c.2831C>A (p.Pro944Gln) c.3044C>A (p.Pro1015Gln) | gnomAD v4 |
X | g.53235145_53235146insGGG | CA2693794636 | IQSEC2 | c.3701_3702insCCC (p.Pro1234_Pro1235insPro) c.1453+639_1453+640insCCC c.962+639_962+640insCCC c.316+1178_316+1179insCCC (n.316+1178_316+1179insCCC) c.514+1178_514+1179insCCC (n.514+1178_514+1179insCCC) n.522_523insCCC c.*27_*28insCCC (n.*27_*28insCCC) c.3542_3543insCCC (p.Pro1181_Pro1182insPro) c.3512_3513insCCC (p.Pro1171_Pro1172insPro) c.3638_3639insCCC (p.Pro1213_Pro1214insPro) c.2927_2928insCCC (p.Pro976_Pro977insPro) c.3597+639_3597+640insCCC (n.3597+639_3597+640insCCC) c.3547+1178_3547+1179insCCC (n.3547+1178_3547+1179insCCC) c.2864_2865insCCC (p.Pro955_Pro956insPro) c.2831_2832insCCC (p.Pro944_Pro945insPro) c.3044_3045insCCC (p.Pro1015_Pro1016insPro) | gnomAD v4 |
X | g.53235145G>A | CA10419783 | IQSEC2 | c.3700C>T (p.Pro1234Ser) c.1453+638C>T c.962+638C>T c.316+1177C>T (n.316+1177C>T) c.514+1177C>T (n.514+1177C>T) n.521C>T c.*26C>T (n.*26C>T) c.3541C>T (p.Pro1181Ser) c.3511C>T (p.Pro1171Ser) c.3637C>T (p.Pro1213Ser) c.2926C>T (p.Pro976Ser) c.3597+638C>T (n.3597+638C>T) c.3547+1177C>T (n.3547+1177C>T) c.2863C>T (p.Pro955Ser) c.2830C>T (p.Pro944Ser) c.3043C>T (p.Pro1015Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235145G>C | CA413142586 | IQSEC2 | c.3700C>G (p.Pro1234Ala) c.1453+638C>G c.962+638C>G c.316+1177C>G (n.316+1177C>G) c.514+1177C>G (n.514+1177C>G) n.521C>G c.*26C>G (n.*26C>G) c.3541C>G (p.Pro1181Ala) c.3511C>G (p.Pro1171Ala) c.3637C>G (p.Pro1213Ala) c.2926C>G (p.Pro976Ala) c.3597+638C>G (n.3597+638C>G) c.3547+1177C>G (n.3547+1177C>G) c.2863C>G (p.Pro955Ala) c.2830C>G (p.Pro944Ala) c.3043C>G (p.Pro1015Ala) | gnomAD v4 |
X | g.53235145G= | CA2429770712 | IQSEC2 | c.3700C= (p.Pro1234=) c.1453+638C= c.962+638C= c.316+1177C= (n.316+1177C=) c.514+1177C= (n.514+1177C=) n.521C= c.*26C= (n.*26C=) c.3541C= (p.Pro1181=) c.3511C= (p.Pro1171=) c.3637C= (p.Pro1213=) c.2926C= (p.Pro976=) c.3597+638C= (n.3597+638C=) c.3547+1177C= (n.3547+1177C=) c.2863C= (p.Pro955=) c.2830C= (p.Pro944=) c.3043C= (p.Pro1015=) | |
X | g.53235145G>T | CA413142591 | IQSEC2 | c.3700C>A (p.Pro1234Thr) c.1453+638C>A c.962+638C>A c.316+1177C>A (n.316+1177C>A) c.514+1177C>A (n.514+1177C>A) n.521C>A c.*26C>A (n.*26C>A) c.3541C>A (p.Pro1181Thr) c.3511C>A (p.Pro1171Thr) c.3637C>A (p.Pro1213Thr) c.2926C>A (p.Pro976Thr) c.3597+638C>A (n.3597+638C>A) c.3547+1177C>A (n.3547+1177C>A) c.2863C>A (p.Pro955Thr) c.2830C>A (p.Pro944Thr) c.3043C>A (p.Pro1015Thr) | gnomAD v4 |
X | g.53235146C>A | CA413142596 | IQSEC2 | c.3699G>T (p.Met1233Ile) c.1453+637G>T c.962+637G>T c.316+1176G>T (n.316+1176G>T) c.514+1176G>T (n.514+1176G>T) n.520G>T c.*25G>T (n.*25G>T) c.3540G>T (p.Met1180Ile) c.3510G>T (p.Met1170Ile) c.3636G>T (p.Met1212Ile) c.2925G>T (p.Met975Ile) c.3597+637G>T (n.3597+637G>T) c.3547+1176G>T (n.3547+1176G>T) c.2862G>T (p.Met954Ile) c.2829G>T (p.Met943Ile) c.3042G>T (p.Met1014Ile) | dbSNP |
X | g.53235146C= | CA2429770713 | IQSEC2 | c.3699G= (p.Met1233=) c.1453+637G= c.962+637G= c.316+1176G= (n.316+1176G=) c.514+1176G= (n.514+1176G=) n.520G= c.*25G= (n.*25G=) c.3540G= (p.Met1180=) c.3510G= (p.Met1170=) c.3636G= (p.Met1212=) c.2925G= (p.Met975=) c.3597+637G= (n.3597+637G=) c.3547+1176G= (n.3547+1176G=) c.2862G= (p.Met954=) c.2829G= (p.Met943=) c.3042G= (p.Met1014=) | |
X | g.53235146C>G | CA413142597 | IQSEC2 | c.3699G>C (p.Met1233Ile) c.1453+637G>C c.962+637G>C c.316+1176G>C (n.316+1176G>C) c.514+1176G>C (n.514+1176G>C) n.520G>C c.*25G>C (n.*25G>C) c.3540G>C (p.Met1180Ile) c.3510G>C (p.Met1170Ile) c.3636G>C (p.Met1212Ile) c.2925G>C (p.Met975Ile) c.3597+637G>C (n.3597+637G>C) c.3547+1176G>C (n.3547+1176G>C) c.2862G>C (p.Met954Ile) c.2829G>C (p.Met943Ile) c.3042G>C (p.Met1014Ile) | |
X | g.53235146C>T | CA413142598 | IQSEC2 | c.3699G>A (p.Met1233Ile) c.1453+637G>A c.962+637G>A c.316+1176G>A (n.316+1176G>A) c.514+1176G>A (n.514+1176G>A) n.520G>A c.*25G>A (n.*25G>A) c.3540G>A (p.Met1180Ile) c.3510G>A (p.Met1170Ile) c.3636G>A (p.Met1212Ile) c.2925G>A (p.Met975Ile) c.3597+637G>A (n.3597+637G>A) c.3547+1176G>A (n.3547+1176G>A) c.2862G>A (p.Met954Ile) c.2829G>A (p.Met943Ile) c.3042G>A (p.Met1014Ile) | gnomAD v4 |
X | g.53235147A= | CA2429770714 | IQSEC2 | c.3698T= (p.Met1233=) c.1453+636T= c.962+636T= c.316+1175T= (n.316+1175T=) c.514+1175T= (n.514+1175T=) n.519T= c.*24T= (n.*24T=) c.3539T= (p.Met1180=) c.3509T= (p.Met1170=) c.3635T= (p.Met1212=) c.2924T= (p.Met975=) c.3597+636T= (n.3597+636T=) c.3547+1175T= (n.3547+1175T=) c.2861T= (p.Met954=) c.2828T= (p.Met943=) c.3041T= (p.Met1014=) | |
X | g.53235147A>C | CA413142602 | IQSEC2 | c.3698T>G (p.Met1233Arg) c.1453+636T>G c.962+636T>G c.316+1175T>G (n.316+1175T>G) c.514+1175T>G (n.514+1175T>G) n.519T>G c.*24T>G (n.*24T>G) c.3539T>G (p.Met1180Arg) c.3509T>G (p.Met1170Arg) c.3635T>G (p.Met1212Arg) c.2924T>G (p.Met975Arg) c.3597+636T>G (n.3597+636T>G) c.3547+1175T>G (n.3547+1175T>G) c.2861T>G (p.Met954Arg) c.2828T>G (p.Met943Arg) c.3041T>G (p.Met1014Arg) | |
X | g.53235147A>G | CA413142606 | IQSEC2 | c.3698T>C (p.Met1233Thr) c.1453+636T>C c.962+636T>C c.316+1175T>C (n.316+1175T>C) c.514+1175T>C (n.514+1175T>C) n.519T>C c.*24T>C (n.*24T>C) c.3539T>C (p.Met1180Thr) c.3509T>C (p.Met1170Thr) c.3635T>C (p.Met1212Thr) c.2924T>C (p.Met975Thr) c.3597+636T>C (n.3597+636T>C) c.3547+1175T>C (n.3547+1175T>C) c.2861T>C (p.Met954Thr) c.2828T>C (p.Met943Thr) c.3041T>C (p.Met1014Thr) | gnomAD v4 |
X | g.53235147A>T | CA413142608 | IQSEC2 | c.3698T>A (p.Met1233Lys) c.1453+636T>A c.962+636T>A c.316+1175T>A (n.316+1175T>A) c.514+1175T>A (n.514+1175T>A) n.519T>A c.*24T>A (n.*24T>A) c.3539T>A (p.Met1180Lys) c.3509T>A (p.Met1170Lys) c.3635T>A (p.Met1212Lys) c.2924T>A (p.Met975Lys) c.3597+636T>A (n.3597+636T>A) c.3547+1175T>A (n.3547+1175T>A) c.2861T>A (p.Met954Lys) c.2828T>A (p.Met943Lys) c.3041T>A (p.Met1014Lys) | dbSNP |
X | g.53235148T>A | CA413142611 | IQSEC2 | c.3697A>T (p.Met1233Leu) c.1453+635A>T c.962+635A>T c.316+1174A>T (n.316+1174A>T) c.514+1174A>T (n.514+1174A>T) n.518A>T c.*23A>T (n.*23A>T) c.3538A>T (p.Met1180Leu) c.3508A>T (p.Met1170Leu) c.3634A>T (p.Met1212Leu) c.2923A>T (p.Met975Leu) c.3597+635A>T (n.3597+635A>T) c.3547+1174A>T (n.3547+1174A>T) c.2860A>T (p.Met954Leu) c.2827A>T (p.Met943Leu) c.3040A>T (p.Met1014Leu) | gnomAD v4 |
X | g.53235148T>C | CA413142614 | IQSEC2 | c.3697A>G (p.Met1233Val) c.1453+635A>G c.962+635A>G c.316+1174A>G (n.316+1174A>G) c.514+1174A>G (n.514+1174A>G) n.518A>G c.*23A>G (n.*23A>G) c.3538A>G (p.Met1180Val) c.3508A>G (p.Met1170Val) c.3634A>G (p.Met1212Val) c.2923A>G (p.Met975Val) c.3597+635A>G (n.3597+635A>G) c.3547+1174A>G (n.3547+1174A>G) c.2860A>G (p.Met954Val) c.2827A>G (p.Met943Val) c.3040A>G (p.Met1014Val) | |
X | g.53235148T>G | CA413142619 | IQSEC2 | c.3697A>C (p.Met1233Leu) c.1453+635A>C c.962+635A>C c.316+1174A>C (n.316+1174A>C) c.514+1174A>C (n.514+1174A>C) n.518A>C c.*23A>C (n.*23A>C) c.3538A>C (p.Met1180Leu) c.3508A>C (p.Met1170Leu) c.3634A>C (p.Met1212Leu) c.2923A>C (p.Met975Leu) c.3597+635A>C (n.3597+635A>C) c.3547+1174A>C (n.3547+1174A>C) c.2860A>C (p.Met954Leu) c.2827A>C (p.Met943Leu) c.3040A>C (p.Met1014Leu) | gnomAD v4 |
X | g.53235149C>A | CA413142624 | IQSEC2 | c.3696G>T (p.Arg1232Ser) c.1453+634G>T c.962+634G>T c.316+1173G>T (n.316+1173G>T) c.514+1173G>T (n.514+1173G>T) n.517G>T c.*22G>T (n.*22G>T) c.3537G>T (p.Arg1179Ser) c.3507G>T (p.Arg1169Ser) c.3633G>T (p.Arg1211Ser) c.2922G>T (p.Arg974Ser) c.3597+634G>T (n.3597+634G>T) c.3547+1173G>T (n.3547+1173G>T) c.2859G>T (p.Arg953Ser) c.2826G>T (p.Arg942Ser) c.3039G>T (p.Arg1013Ser) | gnomAD v4 |
X | g.53235149C>G | CA413142623 | IQSEC2 | c.3696G>C (p.Arg1232Ser) c.1453+634G>C c.962+634G>C c.316+1173G>C (n.316+1173G>C) c.514+1173G>C (n.514+1173G>C) n.517G>C c.*22G>C (n.*22G>C) c.3537G>C (p.Arg1179Ser) c.3507G>C (p.Arg1169Ser) c.3633G>C (p.Arg1211Ser) c.2922G>C (p.Arg974Ser) c.3597+634G>C (n.3597+634G>C) c.3547+1173G>C (n.3547+1173G>C) c.2859G>C (p.Arg953Ser) c.2826G>C (p.Arg942Ser) c.3039G>C (p.Arg1013Ser) | |
X | g.53235149C>T | CA516674076 | IQSEC2 | c.3696G>A (p.Arg1232=) c.1453+634G>A c.962+634G>A c.316+1173G>A (n.316+1173G>A) c.514+1173G>A (n.514+1173G>A) n.517G>A c.*22G>A (n.*22G>A) c.3537G>A (p.Arg1179=) c.3507G>A (p.Arg1169=) c.3633G>A (p.Arg1211=) c.2922G>A (p.Arg974=) c.3597+634G>A (n.3597+634G>A) c.3547+1173G>A (n.3547+1173G>A) c.2859G>A (p.Arg953=) c.2826G>A (p.Arg942=) c.3039G>A (p.Arg1013=) | gnomAD v4 |
X | g.53235150C>A | CA413142635 | IQSEC2 | c.3695G>T (p.Arg1232Met) c.1453+633G>T c.962+633G>T c.316+1172G>T (n.316+1172G>T) c.514+1172G>T (n.514+1172G>T) n.516G>T c.*21G>T (n.*21G>T) c.3536G>T (p.Arg1179Met) c.3506G>T (p.Arg1169Met) c.3632G>T (p.Arg1211Met) c.2921G>T (p.Arg974Met) c.3597+633G>T (n.3597+633G>T) c.3547+1172G>T (n.3547+1172G>T) c.2858G>T (p.Arg953Met) c.2825G>T (p.Arg942Met) c.3038G>T (p.Arg1013Met) | gnomAD v4 |
X | g.53235150C>G | CA413142638 | IQSEC2 | c.3695G>C (p.Arg1232Thr) c.1453+633G>C c.962+633G>C c.316+1172G>C (n.316+1172G>C) c.514+1172G>C (n.514+1172G>C) n.516G>C c.*21G>C (n.*21G>C) c.3536G>C (p.Arg1179Thr) c.3506G>C (p.Arg1169Thr) c.3632G>C (p.Arg1211Thr) c.2921G>C (p.Arg974Thr) c.3597+633G>C (n.3597+633G>C) c.3547+1172G>C (n.3547+1172G>C) c.2858G>C (p.Arg953Thr) c.2825G>C (p.Arg942Thr) c.3038G>C (p.Arg1013Thr) | |
X | g.53235150C>T | CA413142640 | IQSEC2 | c.3695G>A (p.Arg1232Lys) c.1453+633G>A c.962+633G>A c.316+1172G>A (n.316+1172G>A) c.514+1172G>A (n.514+1172G>A) n.516G>A c.*21G>A (n.*21G>A) c.3536G>A (p.Arg1179Lys) c.3506G>A (p.Arg1169Lys) c.3632G>A (p.Arg1211Lys) c.2921G>A (p.Arg974Lys) c.3597+633G>A (n.3597+633G>A) c.3547+1172G>A (n.3547+1172G>A) c.2858G>A (p.Arg953Lys) c.2825G>A (p.Arg942Lys) c.3038G>A (p.Arg1013Lys) | |
X | g.53235151T>A | CA413142643 | IQSEC2 | c.3694A>T (p.Arg1232Trp) c.1453+632A>T c.962+632A>T c.316+1171A>T (n.316+1171A>T) c.514+1171A>T (n.514+1171A>T) n.515A>T c.*20A>T (n.*20A>T) c.3535A>T (p.Arg1179Trp) c.3505A>T (p.Arg1169Trp) c.3631A>T (p.Arg1211Trp) c.2920A>T (p.Arg974Trp) c.3597+632A>T (n.3597+632A>T) c.3547+1171A>T (n.3547+1171A>T) c.2857A>T (p.Arg953Trp) c.2824A>T (p.Arg942Trp) c.3037A>T (p.Arg1013Trp) | |
X | g.53235151T>C | CA413142645 | IQSEC2 | c.3694A>G (p.Arg1232Gly) c.1453+632A>G c.962+632A>G c.316+1171A>G (n.316+1171A>G) c.514+1171A>G (n.514+1171A>G) n.515A>G c.*20A>G (n.*20A>G) c.3535A>G (p.Arg1179Gly) c.3505A>G (p.Arg1169Gly) c.3631A>G (p.Arg1211Gly) c.2920A>G (p.Arg974Gly) c.3597+632A>G (n.3597+632A>G) c.3547+1171A>G (n.3547+1171A>G) c.2857A>G (p.Arg953Gly) c.2824A>G (p.Arg942Gly) c.3037A>G (p.Arg1013Gly) | |
X | g.53235151T>G | CA516416129 | IQSEC2 | c.3694A>C (p.Arg1232=) c.1453+632A>C c.962+632A>C c.316+1171A>C (n.316+1171A>C) c.514+1171A>C (n.514+1171A>C) n.515A>C c.*20A>C (n.*20A>C) c.3535A>C (p.Arg1179=) c.3505A>C (p.Arg1169=) c.3631A>C (p.Arg1211=) c.2920A>C (p.Arg974=) c.3597+632A>C (n.3597+632A>C) c.3547+1171A>C (n.3547+1171A>C) c.2857A>C (p.Arg953=) c.2824A>C (p.Arg942=) c.3037A>C (p.Arg1013=) |