Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53255956dup | CA1139556213 | IQSEC2 | c.1007dup (p.Ala339CysfsTer?) c.137dup (p.Ala49CysfsTer?) c.848dup (p.Ala286CysfsTer?) c.818dup (p.Ala276CysfsTer?) c.233dup (p.Ala81CysfsTer?) c.944dup (p.Ala318CysfsTer?) c.170dup (p.Ala60CysfsTer?) n.1171dup c.350dup (p.Ala120CysfsTer?) n.1165dup | ClinVar dbSNP |
X | g.53255956del | CA10420135 | IQSEC2 | c.1007del (p.Gly336AlafsTer23) c.137del (p.Gly46AlafsTer23) c.848del (p.Gly283AlafsTer23) c.818del (p.Gly273AlafsTer23) c.233del (p.Gly78AlafsTer23) c.944del (p.Gly315AlafsTer23) c.170del (p.Gly57AlafsTer23) n.1171del c.350del (p.Gly117AlafsTer23) n.1165del | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255955_53255956del | CA2693789923 | IQSEC2 | c.1006_1007del (p.Gly336ProfsTer?) c.136_137del (p.Gly46ProfsTer?) c.847_848del (p.Gly283ProfsTer?) c.817_818del (p.Gly273ProfsTer?) c.232_233del (p.Gly78ProfsTer?) c.943_944del (p.Gly315ProfsTer?) c.169_170del (p.Gly57ProfsTer?) n.1170_1171del c.349_350del (p.Gly117ProfsTer?) n.1164_1165del | gnomAD v4 |
X | g.53255953C>A | CA516674561 | IQSEC2 | c.1005G>T (p.Gly335=) c.135G>T (p.Gly45=) c.846G>T (p.Gly282=) c.816G>T (p.Gly272=) c.231G>T (p.Gly77=) c.942G>T (p.Gly314=) c.168G>T (p.Gly56=) n.1169G>T c.348G>T (p.Gly116=) n.1163G>T | |
X | g.53255953C>G | CA516674562 | IQSEC2 | c.1005G>C (p.Gly335=) c.135G>C (p.Gly45=) c.846G>C (p.Gly282=) c.816G>C (p.Gly272=) c.231G>C (p.Gly77=) c.942G>C (p.Gly314=) c.168G>C (p.Gly56=) n.1169G>C c.348G>C (p.Gly116=) n.1163G>C | |
X | g.53255953C>T | CA516674563 | IQSEC2 | c.1005G>A (p.Gly335=) c.135G>A (p.Gly45=) c.846G>A (p.Gly282=) c.816G>A (p.Gly272=) c.231G>A (p.Gly77=) c.942G>A (p.Gly314=) c.168G>A (p.Gly56=) n.1169G>A c.348G>A (p.Gly116=) n.1163G>A | |
X | g.53255954C>A | CA413171841 | IQSEC2 | c.1004G>T (p.Gly335Val) c.134G>T (p.Gly45Val) c.845G>T (p.Gly282Val) c.815G>T (p.Gly272Val) c.230G>T (p.Gly77Val) c.941G>T (p.Gly314Val) c.167G>T (p.Gly56Val) n.1168G>T c.347G>T (p.Gly116Val) n.1162G>T | |
X | g.53255954C>G | CA413171843 | IQSEC2 | c.1004G>C (p.Gly335Ala) c.134G>C (p.Gly45Ala) c.845G>C (p.Gly282Ala) c.815G>C (p.Gly272Ala) c.230G>C (p.Gly77Ala) c.941G>C (p.Gly314Ala) c.167G>C (p.Gly56Ala) n.1168G>C c.347G>C (p.Gly116Ala) n.1162G>C | |
X | g.53255954C>T | CA413171849 | IQSEC2 | c.1004G>A (p.Gly335Glu) c.134G>A (p.Gly45Glu) c.845G>A (p.Gly282Glu) c.815G>A (p.Gly272Glu) c.230G>A (p.Gly77Glu) c.941G>A (p.Gly314Glu) c.167G>A (p.Gly56Glu) n.1168G>A c.347G>A (p.Gly116Glu) n.1162G>A | |
X | g.53255955C>A | CA413171852 | IQSEC2 | c.1003G>T (p.Gly335Trp) c.133G>T (p.Gly45Trp) c.844G>T (p.Gly282Trp) c.814G>T (p.Gly272Trp) c.229G>T (p.Gly77Trp) c.940G>T (p.Gly314Trp) c.166G>T (p.Gly56Trp) n.1167G>T c.346G>T (p.Gly116Trp) n.1161G>T | |
X | g.53255955C>G | CA413171855 | IQSEC2 | c.1003G>C (p.Gly335Arg) c.133G>C (p.Gly45Arg) c.844G>C (p.Gly282Arg) c.814G>C (p.Gly272Arg) c.229G>C (p.Gly77Arg) c.940G>C (p.Gly314Arg) c.166G>C (p.Gly56Arg) n.1167G>C c.346G>C (p.Gly116Arg) n.1161G>C | |
X | g.53255955C>T | CA413171857 | IQSEC2 | c.1003G>A (p.Gly335Arg) c.133G>A (p.Gly45Arg) c.844G>A (p.Gly282Arg) c.814G>A (p.Gly272Arg) c.229G>A (p.Gly77Arg) c.940G>A (p.Gly314Arg) c.166G>A (p.Gly56Arg) n.1167G>A c.346G>A (p.Gly116Arg) n.1161G>A | |
X | g.53255956C>A | CA413171860 | IQSEC2 | c.1002G>T (p.Met334Ile) c.132G>T (p.Met44Ile) c.843G>T (p.Met281Ile) c.813G>T (p.Met271Ile) c.228G>T (p.Met76Ile) c.939G>T (p.Met313Ile) c.165G>T (p.Met55Ile) n.1166G>T c.345G>T (p.Met115Ile) n.1160G>T | |
X | g.53255956C>G | CA413171863 | IQSEC2 | c.1002G>C (p.Met334Ile) c.132G>C (p.Met44Ile) c.843G>C (p.Met281Ile) c.813G>C (p.Met271Ile) c.228G>C (p.Met76Ile) c.939G>C (p.Met313Ile) c.165G>C (p.Met55Ile) n.1166G>C c.345G>C (p.Met115Ile) n.1160G>C | |
X | g.53255956C>T | CA413171866 | IQSEC2 | c.1002G>A (p.Met334Ile) c.132G>A (p.Met44Ile) c.843G>A (p.Met281Ile) c.813G>A (p.Met271Ile) c.228G>A (p.Met76Ile) c.939G>A (p.Met313Ile) c.165G>A (p.Met55Ile) n.1166G>A c.345G>A (p.Met115Ile) n.1160G>A | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255957A>C | CA413171869 | IQSEC2 | c.1001T>G (p.Met334Arg) c.131T>G (p.Met44Arg) c.842T>G (p.Met281Arg) c.812T>G (p.Met271Arg) c.227T>G (p.Met76Arg) c.938T>G (p.Met313Arg) c.164T>G (p.Met55Arg) n.1165T>G c.344T>G (p.Met115Arg) n.1159T>G | |
X | g.53255957A>G | CA413171871 | IQSEC2 | c.1001T>C (p.Met334Thr) c.131T>C (p.Met44Thr) c.842T>C (p.Met281Thr) c.812T>C (p.Met271Thr) c.227T>C (p.Met76Thr) c.938T>C (p.Met313Thr) c.164T>C (p.Met55Thr) n.1165T>C c.344T>C (p.Met115Thr) n.1159T>C | gnomAD v4 |
X | g.53255957A>T | CA413171874 | IQSEC2 | c.1001T>A (p.Met334Lys) c.131T>A (p.Met44Lys) c.842T>A (p.Met281Lys) c.812T>A (p.Met271Lys) c.227T>A (p.Met76Lys) c.938T>A (p.Met313Lys) c.164T>A (p.Met55Lys) n.1165T>A c.344T>A (p.Met115Lys) n.1159T>A | |
X | g.53255958T>A | CA413171882 | IQSEC2 | c.1000A>T (p.Met334Leu) c.130A>T (p.Met44Leu) c.841A>T (p.Met281Leu) c.811A>T (p.Met271Leu) c.226A>T (p.Met76Leu) c.937A>T (p.Met313Leu) c.163A>T (p.Met55Leu) n.1164A>T c.343A>T (p.Met115Leu) n.1158A>T | |
X | g.53255958T>C | CA413171885 | IQSEC2 | c.1000A>G (p.Met334Val) c.130A>G (p.Met44Val) c.841A>G (p.Met281Val) c.811A>G (p.Met271Val) c.226A>G (p.Met76Val) c.937A>G (p.Met313Val) c.163A>G (p.Met55Val) n.1164A>G c.343A>G (p.Met115Val) n.1158A>G | |
X | g.53255958T>G | CA413171878 | IQSEC2 | c.1000A>C (p.Met334Leu) c.130A>C (p.Met44Leu) c.841A>C (p.Met281Leu) c.811A>C (p.Met271Leu) c.226A>C (p.Met76Leu) c.937A>C (p.Met313Leu) c.163A>C (p.Met55Leu) n.1164A>C c.343A>C (p.Met115Leu) n.1158A>C | |
X | g.53255959G>A | CA516674565 | IQSEC2 | c.999C>T (p.His333=) c.129C>T (p.His43=) c.840C>T (p.His280=) c.810C>T (p.His270=) c.225C>T (p.His75=) c.936C>T (p.His312=) c.162C>T (p.His54=) n.1163C>T c.342C>T (p.His114=) n.1157C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255959G>C | CA413171886 | IQSEC2 | c.999C>G (p.His333Gln) c.129C>G (p.His43Gln) c.840C>G (p.His280Gln) c.810C>G (p.His270Gln) c.225C>G (p.His75Gln) c.936C>G (p.His312Gln) c.162C>G (p.His54Gln) n.1163C>G c.342C>G (p.His114Gln) n.1157C>G | |
X | g.53255959G= | CA2429777205 | IQSEC2 | c.999C= (p.His333=) c.129C= (p.His43=) c.840C= (p.His280=) c.810C= (p.His270=) c.225C= (p.His75=) c.936C= (p.His312=) c.162C= (p.His54=) n.1163C= c.342C= (p.His114=) n.1157C= | |
X | g.53255959G>T | CA413171888 | IQSEC2 | c.999C>A (p.His333Gln) c.129C>A (p.His43Gln) c.840C>A (p.His280Gln) c.810C>A (p.His270Gln) c.225C>A (p.His75Gln) c.936C>A (p.His312Gln) c.162C>A (p.His54Gln) n.1163C>A c.342C>A (p.His114Gln) n.1157C>A | |
X | g.53255960T>A | CA413171895 | IQSEC2 | c.998A>T (p.His333Leu) c.128A>T (p.His43Leu) c.839A>T (p.His280Leu) c.809A>T (p.His270Leu) c.224A>T (p.His75Leu) c.935A>T (p.His312Leu) c.161A>T (p.His54Leu) n.1162A>T c.341A>T (p.His114Leu) n.1156A>T | |
X | g.53255960T>C | CA413171898 | IQSEC2 | c.998A>G (p.His333Arg) c.128A>G (p.His43Arg) c.839A>G (p.His280Arg) c.809A>G (p.His270Arg) c.224A>G (p.His75Arg) c.935A>G (p.His312Arg) c.161A>G (p.His54Arg) n.1162A>G c.341A>G (p.His114Arg) n.1156A>G | |
X | g.53255960T>G | CA413171899 | IQSEC2 | c.998A>C (p.His333Pro) c.128A>C (p.His43Pro) c.839A>C (p.His280Pro) c.809A>C (p.His270Pro) c.224A>C (p.His75Pro) c.935A>C (p.His312Pro) c.161A>C (p.His54Pro) n.1162A>C c.341A>C (p.His114Pro) n.1156A>C | |
X | g.53255961G>A | CA413171907 | IQSEC2 | c.997C>T (p.His333Tyr) c.127C>T (p.His43Tyr) c.838C>T (p.His280Tyr) c.808C>T (p.His270Tyr) c.223C>T (p.His75Tyr) c.934C>T (p.His312Tyr) c.160C>T (p.His54Tyr) n.1161C>T c.340C>T (p.His114Tyr) n.1155C>T | ClinVar dbSNP |
X | g.53255961G>C | CA413171906 | IQSEC2 | c.997C>G (p.His333Asp) c.127C>G (p.His43Asp) c.838C>G (p.His280Asp) c.808C>G (p.His270Asp) c.223C>G (p.His75Asp) c.934C>G (p.His312Asp) c.160C>G (p.His54Asp) n.1161C>G c.340C>G (p.His114Asp) n.1155C>G | gnomAD v4 |
X | g.53255961G= | CA2429777206 | IQSEC2 | c.997C= (p.His333=) c.127C= (p.His43=) c.838C= (p.His280=) c.808C= (p.His270=) c.223C= (p.His75=) c.934C= (p.His312=) c.160C= (p.His54=) n.1161C= c.340C= (p.His114=) n.1155C= | |
X | g.53255961G>T | CA413171904 | IQSEC2 | c.997C>A (p.His333Asn) c.127C>A (p.His43Asn) c.838C>A (p.His280Asn) c.808C>A (p.His270Asn) c.223C>A (p.His75Asn) c.934C>A (p.His312Asn) c.160C>A (p.His54Asn) n.1161C>A c.340C>A (p.His114Asn) n.1155C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255962G>A | CA10420137 | IQSEC2 | c.996C>T (p.Ser332=) c.126C>T (p.Ser42=) c.837C>T (p.Ser279=) c.807C>T (p.Ser269=) c.222C>T (p.Ser74=) c.933C>T (p.Ser311=) c.159C>T (p.Ser53=) n.1160C>T c.339C>T (p.Ser113=) n.1154C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255962G>C | CA413171908 | IQSEC2 | c.996C>G (p.Ser332Arg) c.126C>G (p.Ser42Arg) c.837C>G (p.Ser279Arg) c.807C>G (p.Ser269Arg) c.222C>G (p.Ser74Arg) c.933C>G (p.Ser311Arg) c.159C>G (p.Ser53Arg) n.1160C>G c.339C>G (p.Ser113Arg) n.1154C>G | |
X | g.53255962G= | CA2429777207 | IQSEC2 | c.996C= (p.Ser332=) c.126C= (p.Ser42=) c.837C= (p.Ser279=) c.807C= (p.Ser269=) c.222C= (p.Ser74=) c.933C= (p.Ser311=) c.159C= (p.Ser53=) n.1160C= c.339C= (p.Ser113=) n.1154C= | |
X | g.53255962G>T | CA413171910 | IQSEC2 | c.996C>A (p.Ser332Arg) c.126C>A (p.Ser42Arg) c.837C>A (p.Ser279Arg) c.807C>A (p.Ser269Arg) c.222C>A (p.Ser74Arg) c.933C>A (p.Ser311Arg) c.159C>A (p.Ser53Arg) n.1160C>A c.339C>A (p.Ser113Arg) n.1154C>A | |
X | g.53255963C>A | CA413171912 | IQSEC2 | c.995G>T (p.Ser332Ile) c.125G>T (p.Ser42Ile) c.836G>T (p.Ser279Ile) c.806G>T (p.Ser269Ile) c.221G>T (p.Ser74Ile) c.932G>T (p.Ser311Ile) c.158G>T (p.Ser53Ile) n.1159G>T c.338G>T (p.Ser113Ile) n.1153G>T | |
X | g.53255963C>G | CA413171914 | IQSEC2 | c.995G>C (p.Ser332Thr) c.125G>C (p.Ser42Thr) c.836G>C (p.Ser279Thr) c.806G>C (p.Ser269Thr) c.221G>C (p.Ser74Thr) c.932G>C (p.Ser311Thr) c.158G>C (p.Ser53Thr) n.1159G>C c.338G>C (p.Ser113Thr) n.1153G>C | |
X | g.53255963C>T | CA413171917 | IQSEC2 | c.995G>A (p.Ser332Asn) c.125G>A (p.Ser42Asn) c.836G>A (p.Ser279Asn) c.806G>A (p.Ser269Asn) c.221G>A (p.Ser74Asn) c.932G>A (p.Ser311Asn) c.158G>A (p.Ser53Asn) n.1159G>A c.338G>A (p.Ser113Asn) n.1153G>A | ClinVar dbSNP |
X | g.53255964T>A | CA413171922 | IQSEC2 | c.994A>T (p.Ser332Cys) c.124A>T (p.Ser42Cys) c.835A>T (p.Ser279Cys) c.805A>T (p.Ser269Cys) c.220A>T (p.Ser74Cys) c.931A>T (p.Ser311Cys) c.157A>T (p.Ser53Cys) n.1158A>T c.337A>T (p.Ser113Cys) n.1152A>T | |
X | g.53255964T>C | CA413171920 | IQSEC2 | c.994A>G (p.Ser332Gly) c.124A>G (p.Ser42Gly) c.835A>G (p.Ser279Gly) c.805A>G (p.Ser269Gly) c.220A>G (p.Ser74Gly) c.931A>G (p.Ser311Gly) c.157A>G (p.Ser53Gly) n.1158A>G c.337A>G (p.Ser113Gly) n.1152A>G | |
X | g.53255964T>G | CA413171921 | IQSEC2 | c.994A>C (p.Ser332Arg) c.124A>C (p.Ser42Arg) c.835A>C (p.Ser279Arg) c.805A>C (p.Ser269Arg) c.220A>C (p.Ser74Arg) c.931A>C (p.Ser311Arg) c.157A>C (p.Ser53Arg) n.1158A>C c.337A>C (p.Ser113Arg) n.1152A>C | |
X | g.53255965G>A | CA516674569 | IQSEC2 | c.993C>T (p.Ser331=) c.123C>T (p.Ser41=) c.834C>T (p.Ser278=) c.804C>T (p.Ser268=) c.219C>T (p.Ser73=) c.930C>T (p.Ser310=) c.156C>T (p.Ser52=) n.1157C>T c.336C>T (p.Ser112=) n.1151C>T | |
X | g.53255965G>C | CA413171923 | IQSEC2 | c.993C>G (p.Ser331Arg) c.123C>G (p.Ser41Arg) c.834C>G (p.Ser278Arg) c.804C>G (p.Ser268Arg) c.219C>G (p.Ser73Arg) c.930C>G (p.Ser310Arg) c.156C>G (p.Ser52Arg) n.1157C>G c.336C>G (p.Ser112Arg) n.1151C>G | |
X | g.53255965G>T | CA413171925 | IQSEC2 | c.993C>A (p.Ser331Arg) c.123C>A (p.Ser41Arg) c.834C>A (p.Ser278Arg) c.804C>A (p.Ser268Arg) c.219C>A (p.Ser73Arg) c.930C>A (p.Ser310Arg) c.156C>A (p.Ser52Arg) n.1157C>A c.336C>A (p.Ser112Arg) n.1151C>A | |
X | g.53255966C>A | CA413171930 | IQSEC2 | c.992G>T (p.Ser331Ile) c.122G>T (p.Ser41Ile) c.833G>T (p.Ser278Ile) c.803G>T (p.Ser268Ile) c.218G>T (p.Ser73Ile) c.929G>T (p.Ser310Ile) c.155G>T (p.Ser52Ile) n.1156G>T c.335G>T (p.Ser112Ile) n.1150G>T | |
X | g.53255966C>G | CA413171933 | IQSEC2 | c.992G>C (p.Ser331Thr) c.122G>C (p.Ser41Thr) c.833G>C (p.Ser278Thr) c.803G>C (p.Ser268Thr) c.218G>C (p.Ser73Thr) c.929G>C (p.Ser310Thr) c.155G>C (p.Ser52Thr) n.1156G>C c.335G>C (p.Ser112Thr) n.1150G>C | |
X | g.53255966C>T | CA413171935 | IQSEC2 | c.992G>A (p.Ser331Asn) c.122G>A (p.Ser41Asn) c.833G>A (p.Ser278Asn) c.803G>A (p.Ser268Asn) c.218G>A (p.Ser73Asn) c.929G>A (p.Ser310Asn) c.155G>A (p.Ser52Asn) n.1156G>A c.335G>A (p.Ser112Asn) n.1150G>A | |
X | g.53255967T>A | CA413171945 | IQSEC2 | c.991A>T (p.Ser331Cys) c.121A>T (p.Ser41Cys) c.832A>T (p.Ser278Cys) c.802A>T (p.Ser268Cys) c.217A>T (p.Ser73Cys) c.928A>T (p.Ser310Cys) c.154A>T (p.Ser52Cys) n.1155A>T c.334A>T (p.Ser112Cys) n.1149A>T | |
X | g.53255967T>C | CA413171941 | IQSEC2 | c.991A>G (p.Ser331Gly) c.121A>G (p.Ser41Gly) c.832A>G (p.Ser278Gly) c.802A>G (p.Ser268Gly) c.217A>G (p.Ser73Gly) c.928A>G (p.Ser310Gly) c.154A>G (p.Ser52Gly) n.1155A>G c.334A>G (p.Ser112Gly) n.1149A>G | |
X | g.53255967T>G | CA413171939 | IQSEC2 | c.991A>C (p.Ser331Arg) c.121A>C (p.Ser41Arg) c.832A>C (p.Ser278Arg) c.802A>C (p.Ser268Arg) c.217A>C (p.Ser73Arg) c.928A>C (p.Ser310Arg) c.154A>C (p.Ser52Arg) n.1155A>C c.334A>C (p.Ser112Arg) n.1149A>C | |
X | g.53255968G>A | CA516674570 | IQSEC2 | c.990C>T (p.Ser330=) c.120C>T (p.Ser40=) c.831C>T (p.Ser277=) c.801C>T (p.Ser267=) c.216C>T (p.Ser72=) c.927C>T (p.Ser309=) c.153C>T (p.Ser51=) n.1154C>T c.333C>T (p.Ser111=) n.1148C>T | |
X | g.53255968G>C | CA516674571 | IQSEC2 | c.990C>G (p.Ser330=) c.120C>G (p.Ser40=) c.831C>G (p.Ser277=) c.801C>G (p.Ser267=) c.216C>G (p.Ser72=) c.927C>G (p.Ser309=) c.153C>G (p.Ser51=) n.1154C>G c.333C>G (p.Ser111=) n.1148C>G | |
X | g.53255968G>T | CA516674572 | IQSEC2 | c.990C>A (p.Ser330=) c.120C>A (p.Ser40=) c.831C>A (p.Ser277=) c.801C>A (p.Ser267=) c.216C>A (p.Ser72=) c.927C>A (p.Ser309=) c.153C>A (p.Ser51=) n.1154C>A c.333C>A (p.Ser111=) n.1148C>A | |
X | g.53255969G>A | CA413171947 | IQSEC2 | c.989C>T (p.Ser330Phe) c.119C>T (p.Ser40Phe) c.830C>T (p.Ser277Phe) c.800C>T (p.Ser267Phe) c.215C>T (p.Ser72Phe) c.926C>T (p.Ser309Phe) c.152C>T (p.Ser51Phe) n.1153C>T c.332C>T (p.Ser111Phe) n.1147C>T | |
X | g.53255969G>C | CA413171948 | IQSEC2 | c.989C>G (p.Ser330Cys) c.119C>G (p.Ser40Cys) c.830C>G (p.Ser277Cys) c.800C>G (p.Ser267Cys) c.215C>G (p.Ser72Cys) c.926C>G (p.Ser309Cys) c.152C>G (p.Ser51Cys) n.1153C>G c.332C>G (p.Ser111Cys) n.1147C>G | |
X | g.53255969G>T | CA413171950 | IQSEC2 | c.989C>A (p.Ser330Tyr) c.119C>A (p.Ser40Tyr) c.830C>A (p.Ser277Tyr) c.800C>A (p.Ser267Tyr) c.215C>A (p.Ser72Tyr) c.926C>A (p.Ser309Tyr) c.152C>A (p.Ser51Tyr) n.1153C>A c.332C>A (p.Ser111Tyr) n.1147C>A | |
X | g.53255970A>C | CA413171957 | IQSEC2 | c.988T>G (p.Ser330Ala) c.118T>G (p.Ser40Ala) c.829T>G (p.Ser277Ala) c.799T>G (p.Ser267Ala) c.214T>G (p.Ser72Ala) c.925T>G (p.Ser309Ala) c.151T>G (p.Ser51Ala) n.1152T>G c.331T>G (p.Ser111Ala) n.1146T>G | |
X | g.53255970A>G | CA413171959 | IQSEC2 | c.988T>C (p.Ser330Pro) c.118T>C (p.Ser40Pro) c.829T>C (p.Ser277Pro) c.799T>C (p.Ser267Pro) c.214T>C (p.Ser72Pro) c.925T>C (p.Ser309Pro) c.151T>C (p.Ser51Pro) n.1152T>C c.331T>C (p.Ser111Pro) n.1146T>C | gnomAD v4 |
X | g.53255970A>T | CA413171962 | IQSEC2 | c.988T>A (p.Ser330Thr) c.118T>A (p.Ser40Thr) c.829T>A (p.Ser277Thr) c.799T>A (p.Ser267Thr) c.214T>A (p.Ser72Thr) c.925T>A (p.Ser309Thr) c.151T>A (p.Ser51Thr) n.1152T>A c.331T>A (p.Ser111Thr) n.1146T>A | |
X | g.53255970_53255971delinsAG | CA2429777208 | IQSEC2 | c.987_988delinsCT (p.Pro329=) c.117_118delinsCT (p.Pro39=) c.828_829delinsCT (p.Pro276=) c.798_799delinsCT (p.Pro266=) c.213_214delinsCT (p.Pro71=) c.924_925delinsCT (p.Pro308=) c.150_151delinsCT (p.Pro50=) n.1151_1152delinsCT c.330_331delinsCT (p.Pro110=) n.1145_1146delinsCT | |
X | g.53255971G>A | CA516674573 | IQSEC2 | c.987C>T (p.Pro329=) c.117C>T (p.Pro39=) c.828C>T (p.Pro276=) c.798C>T (p.Pro266=) c.213C>T (p.Pro71=) c.924C>T (p.Pro308=) c.150C>T (p.Pro50=) n.1151C>T c.330C>T (p.Pro110=) n.1145C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53255971G>C | CA516674574 | IQSEC2 | c.987C>G (p.Pro329=) c.117C>G (p.Pro39=) c.828C>G (p.Pro276=) c.798C>G (p.Pro266=) c.213C>G (p.Pro71=) c.924C>G (p.Pro308=) c.150C>G (p.Pro50=) n.1151C>G c.330C>G (p.Pro110=) n.1145C>G | |
X | g.53255971G= | CA2429777209 | IQSEC2 | c.987C= (p.Pro329=) c.117C= (p.Pro39=) c.828C= (p.Pro276=) c.798C= (p.Pro266=) c.213C= (p.Pro71=) c.924C= (p.Pro308=) c.150C= (p.Pro50=) n.1151C= c.330C= (p.Pro110=) n.1145C= | |
X | g.53255971G>T | CA516674575 | IQSEC2 | c.987C>A (p.Pro329=) c.117C>A (p.Pro39=) c.828C>A (p.Pro276=) c.798C>A (p.Pro266=) c.213C>A (p.Pro71=) c.924C>A (p.Pro308=) c.150C>A (p.Pro50=) n.1151C>A c.330C>A (p.Pro110=) n.1145C>A | dbSNP |
X | g.53255976dup | CA2820946108 | IQSEC2 | c.987dup (p.Ser330LeufsTer?) c.117dup (p.Ser40LeufsTer?) c.828dup (p.Ser277LeufsTer?) c.798dup (p.Ser267LeufsTer?) c.213dup (p.Ser72LeufsTer?) c.924dup (p.Ser309LeufsTer?) c.150dup (p.Ser51LeufsTer?) n.1151dup c.330dup (p.Ser111LeufsTer?) n.1145dup | |
X | g.53255976del | CA641903998 | IQSEC2 | c.987del (p.Ser330ProfsTer29) c.117del (p.Ser40ProfsTer29) c.828del (p.Ser277ProfsTer29) c.798del (p.Ser267ProfsTer29) c.213del (p.Ser72ProfsTer29) c.924del (p.Ser309ProfsTer29) c.150del (p.Ser51ProfsTer29) n.1151del c.330del (p.Ser111ProfsTer29) n.1145del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255972G>A | CA413171966 | IQSEC2 | c.986C>T (p.Pro329Leu) c.116C>T (p.Pro39Leu) c.827C>T (p.Pro276Leu) c.797C>T (p.Pro266Leu) c.212C>T (p.Pro71Leu) c.923C>T (p.Pro308Leu) c.149C>T (p.Pro50Leu) n.1150C>T c.329C>T (p.Pro110Leu) n.1144C>T | gnomAD v4 |
X | g.53255972G>C | CA413171969 | IQSEC2 | c.986C>G (p.Pro329Arg) c.116C>G (p.Pro39Arg) c.827C>G (p.Pro276Arg) c.797C>G (p.Pro266Arg) c.212C>G (p.Pro71Arg) c.923C>G (p.Pro308Arg) c.149C>G (p.Pro50Arg) n.1150C>G c.329C>G (p.Pro110Arg) n.1144C>G | |
X | g.53255972G= | CA2429777210 | IQSEC2 | c.986C= (p.Pro329=) c.116C= (p.Pro39=) c.827C= (p.Pro276=) c.797C= (p.Pro266=) c.212C= (p.Pro71=) c.923C= (p.Pro308=) c.149C= (p.Pro50=) n.1150C= c.329C= (p.Pro110=) n.1144C= | |
X | g.53255972G>T | CA10420138 | IQSEC2 | c.986C>A (p.Pro329His) c.116C>A (p.Pro39His) c.827C>A (p.Pro276His) c.797C>A (p.Pro266His) c.212C>A (p.Pro71His) c.923C>A (p.Pro308His) c.149C>A (p.Pro50His) n.1150C>A c.329C>A (p.Pro110His) n.1144C>A | ClinVar dbSNP ExAC gnomAD v4 |
X | g.53255973G>A | CA413171972 | IQSEC2 | c.985C>T (p.Pro329Ser) c.115C>T (p.Pro39Ser) c.826C>T (p.Pro276Ser) c.796C>T (p.Pro266Ser) c.211C>T (p.Pro71Ser) c.922C>T (p.Pro308Ser) c.148C>T (p.Pro50Ser) n.1149C>T c.328C>T (p.Pro110Ser) n.1143C>T | ClinVar |
X | g.53255973G>C | CA413171975 | IQSEC2 | c.985C>G (p.Pro329Ala) c.115C>G (p.Pro39Ala) c.826C>G (p.Pro276Ala) c.796C>G (p.Pro266Ala) c.211C>G (p.Pro71Ala) c.922C>G (p.Pro308Ala) c.148C>G (p.Pro50Ala) n.1149C>G c.328C>G (p.Pro110Ala) n.1143C>G | ClinVar gnomAD v4 |
X | g.53255973G= | CA2429777211 | IQSEC2 | c.985C= (p.Pro329=) c.115C= (p.Pro39=) c.826C= (p.Pro276=) c.796C= (p.Pro266=) c.211C= (p.Pro71=) c.922C= (p.Pro308=) c.148C= (p.Pro50=) n.1149C= c.328C= (p.Pro110=) n.1143C= | |
X | g.53255973G>T | CA413171978 | IQSEC2 | c.985C>A (p.Pro329Thr) c.115C>A (p.Pro39Thr) c.826C>A (p.Pro276Thr) c.796C>A (p.Pro266Thr) c.211C>A (p.Pro71Thr) c.922C>A (p.Pro308Thr) c.148C>A (p.Pro50Thr) n.1149C>A c.328C>A (p.Pro110Thr) n.1143C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53255974G>A | CA516674578 | IQSEC2 | c.984C>T (p.Pro328=) c.114C>T (p.Pro38=) c.825C>T (p.Pro275=) c.795C>T (p.Pro265=) c.210C>T (p.Pro70=) c.921C>T (p.Pro307=) c.147C>T (p.Pro49=) n.1148C>T c.327C>T (p.Pro109=) n.1142C>T | gnomAD v4 |
X | g.53255974G>C | CA516674577 | IQSEC2 | c.984C>G (p.Pro328=) c.114C>G (p.Pro38=) c.825C>G (p.Pro275=) c.795C>G (p.Pro265=) c.210C>G (p.Pro70=) c.921C>G (p.Pro307=) c.147C>G (p.Pro49=) n.1148C>G c.327C>G (p.Pro109=) n.1142C>G | |
X | g.53255974G>T | CA516674576 | IQSEC2 | c.984C>A (p.Pro328=) c.114C>A (p.Pro38=) c.825C>A (p.Pro275=) c.795C>A (p.Pro265=) c.210C>A (p.Pro70=) c.921C>A (p.Pro307=) c.147C>A (p.Pro49=) n.1148C>A c.327C>A (p.Pro109=) n.1142C>A | |
X | g.53255975G>A | CA413171980 | IQSEC2 | c.983C>T (p.Pro328Leu) c.113C>T (p.Pro38Leu) c.824C>T (p.Pro275Leu) c.794C>T (p.Pro265Leu) c.209C>T (p.Pro70Leu) c.920C>T (p.Pro307Leu) c.146C>T (p.Pro49Leu) n.1147C>T c.326C>T (p.Pro109Leu) n.1141C>T | |
X | g.53255975G>C | CA413171982 | IQSEC2 | c.983C>G (p.Pro328Arg) c.113C>G (p.Pro38Arg) c.824C>G (p.Pro275Arg) c.794C>G (p.Pro265Arg) c.209C>G (p.Pro70Arg) c.920C>G (p.Pro307Arg) c.146C>G (p.Pro49Arg) n.1147C>G c.326C>G (p.Pro109Arg) n.1141C>G | |
X | g.53255975G>T | CA413171984 | IQSEC2 | c.983C>A (p.Pro328His) c.113C>A (p.Pro38His) c.824C>A (p.Pro275His) c.794C>A (p.Pro265His) c.209C>A (p.Pro70His) c.920C>A (p.Pro307His) c.146C>A (p.Pro49His) n.1147C>A c.326C>A (p.Pro109His) n.1141C>A | |
X | g.53255976G>A | CA10420140 | IQSEC2 | c.982C>T (p.Pro328Ser) c.112C>T (p.Pro38Ser) c.823C>T (p.Pro275Ser) c.793C>T (p.Pro265Ser) c.208C>T (p.Pro70Ser) c.919C>T (p.Pro307Ser) c.145C>T (p.Pro49Ser) n.1146C>T c.325C>T (p.Pro109Ser) n.1140C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255976G>C | CA413171988 | IQSEC2 | c.982C>G (p.Pro328Ala) c.112C>G (p.Pro38Ala) c.823C>G (p.Pro275Ala) c.793C>G (p.Pro265Ala) c.208C>G (p.Pro70Ala) c.919C>G (p.Pro307Ala) c.145C>G (p.Pro49Ala) n.1146C>G c.325C>G (p.Pro109Ala) n.1140C>G | |
X | g.53255976G= | CA2429777212 | IQSEC2 | c.982C= (p.Pro328=) c.112C= (p.Pro38=) c.823C= (p.Pro275=) c.793C= (p.Pro265=) c.208C= (p.Pro70=) c.919C= (p.Pro307=) c.145C= (p.Pro49=) n.1146C= c.325C= (p.Pro109=) n.1140C= | |
X | g.53255976G>T | CA10420139 | IQSEC2 | c.982C>A (p.Pro328Thr) c.112C>A (p.Pro38Thr) c.823C>A (p.Pro275Thr) c.793C>A (p.Pro265Thr) c.208C>A (p.Pro70Thr) c.919C>A (p.Pro307Thr) c.145C>A (p.Pro49Thr) n.1146C>A c.325C>A (p.Pro109Thr) n.1140C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255977C>A | CA516674579 | IQSEC2 | c.981G>T (p.Leu327=) c.111G>T (p.Leu37=) c.822G>T (p.Leu274=) c.792G>T (p.Leu264=) c.207G>T (p.Leu69=) c.918G>T (p.Leu306=) c.144G>T (p.Leu48=) n.1145G>T c.324G>T (p.Leu108=) n.1139G>T | |
X | g.53255977C= | CA2429777213 | IQSEC2 | c.981G= (p.Leu327=) c.111G= (p.Leu37=) c.822G= (p.Leu274=) c.792G= (p.Leu264=) c.207G= (p.Leu69=) c.918G= (p.Leu306=) c.144G= (p.Leu48=) n.1145G= c.324G= (p.Leu108=) n.1139G= | |
X | g.53255977C>G | CA10420141 | IQSEC2 | c.981G>C (p.Leu327=) c.111G>C (p.Leu37=) c.822G>C (p.Leu274=) c.792G>C (p.Leu264=) c.207G>C (p.Leu69=) c.918G>C (p.Leu306=) c.144G>C (p.Leu48=) n.1145G>C c.324G>C (p.Leu108=) n.1139G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255977C>T | CA516674580 | IQSEC2 | c.981G>A (p.Leu327=) c.111G>A (p.Leu37=) c.822G>A (p.Leu274=) c.792G>A (p.Leu264=) c.207G>A (p.Leu69=) c.918G>A (p.Leu306=) c.144G>A (p.Leu48=) n.1145G>A c.324G>A (p.Leu108=) n.1139G>A | ClinVar dbSNP |
X | g.53255978A>C | CA413171994 | IQSEC2 | c.980T>G (p.Leu327Arg) c.110T>G (p.Leu37Arg) c.821T>G (p.Leu274Arg) c.791T>G (p.Leu264Arg) c.206T>G (p.Leu69Arg) c.917T>G (p.Leu306Arg) c.143T>G (p.Leu48Arg) n.1144T>G c.323T>G (p.Leu108Arg) n.1138T>G | |
X | g.53255978A>G | CA413171996 | IQSEC2 | c.980T>C (p.Leu327Pro) c.110T>C (p.Leu37Pro) c.821T>C (p.Leu274Pro) c.791T>C (p.Leu264Pro) c.206T>C (p.Leu69Pro) c.917T>C (p.Leu306Pro) c.143T>C (p.Leu48Pro) n.1144T>C c.323T>C (p.Leu108Pro) n.1138T>C | |
X | g.53255978A>T | CA413171997 | IQSEC2 | c.980T>A (p.Leu327Gln) c.110T>A (p.Leu37Gln) c.821T>A (p.Leu274Gln) c.791T>A (p.Leu264Gln) c.206T>A (p.Leu69Gln) c.917T>A (p.Leu306Gln) c.143T>A (p.Leu48Gln) n.1144T>A c.323T>A (p.Leu108Gln) n.1138T>A | |
X | g.53255979G>A | CA516674581 | IQSEC2 | c.979C>T (p.Leu327=) c.109C>T (p.Leu37=) c.820C>T (p.Leu274=) c.790C>T (p.Leu264=) c.205C>T (p.Leu69=) c.916C>T (p.Leu306=) c.142C>T (p.Leu48=) n.1143C>T c.322C>T (p.Leu108=) n.1137C>T | gnomAD v4 |
X | g.53255979G>C | CA413172000 | IQSEC2 | c.979C>G (p.Leu327Val) c.109C>G (p.Leu37Val) c.820C>G (p.Leu274Val) c.790C>G (p.Leu264Val) c.205C>G (p.Leu69Val) c.916C>G (p.Leu306Val) c.142C>G (p.Leu48Val) n.1143C>G c.322C>G (p.Leu108Val) n.1137C>G | gnomAD v4 |
X | g.53255979G>T | CA413171999 | IQSEC2 | c.979C>A (p.Leu327Met) c.109C>A (p.Leu37Met) c.820C>A (p.Leu274Met) c.790C>A (p.Leu264Met) c.205C>A (p.Leu69Met) c.916C>A (p.Leu306Met) c.142C>A (p.Leu48Met) n.1143C>A c.322C>A (p.Leu108Met) n.1137C>A | |
X | g.53255980C>A | CA413172003 | IQSEC2 | c.978G>T (p.Gln326His) c.108G>T (p.Gln36His) c.819G>T (p.Gln273His) c.789G>T (p.Gln263His) c.204G>T (p.Gln68His) c.915G>T (p.Gln305His) c.141G>T (p.Gln47His) n.1142G>T c.321G>T (p.Gln107His) n.1136G>T | |
X | g.53255980C>G | CA413172006 | IQSEC2 | c.978G>C (p.Gln326His) c.108G>C (p.Gln36His) c.819G>C (p.Gln273His) c.789G>C (p.Gln263His) c.204G>C (p.Gln68His) c.915G>C (p.Gln305His) c.141G>C (p.Gln47His) n.1142G>C c.321G>C (p.Gln107His) n.1136G>C | |
X | g.53255980C>T | CA516674582 | IQSEC2 | c.978G>A (p.Gln326=) c.108G>A (p.Gln36=) c.819G>A (p.Gln273=) c.789G>A (p.Gln263=) c.204G>A (p.Gln68=) c.915G>A (p.Gln305=) c.141G>A (p.Gln47=) n.1142G>A c.321G>A (p.Gln107=) n.1136G>A | |
X | g.53255981T>A | CA413172009 | IQSEC2 | c.977A>T (p.Gln326Leu) c.107A>T (p.Gln36Leu) c.818A>T (p.Gln273Leu) c.788A>T (p.Gln263Leu) c.203A>T (p.Gln68Leu) c.914A>T (p.Gln305Leu) c.140A>T (p.Gln47Leu) n.1141A>T c.320A>T (p.Gln107Leu) n.1135A>T | |
X | g.53255981T>C | CA413172011 | IQSEC2 | c.977A>G (p.Gln326Arg) c.107A>G (p.Gln36Arg) c.818A>G (p.Gln273Arg) c.788A>G (p.Gln263Arg) c.203A>G (p.Gln68Arg) c.914A>G (p.Gln305Arg) c.140A>G (p.Gln47Arg) n.1141A>G c.320A>G (p.Gln107Arg) n.1135A>G | |
X | g.53255981T>G | CA413172014 | IQSEC2 | c.977A>C (p.Gln326Pro) c.107A>C (p.Gln36Pro) c.818A>C (p.Gln273Pro) c.788A>C (p.Gln263Pro) c.203A>C (p.Gln68Pro) c.914A>C (p.Gln305Pro) c.140A>C (p.Gln47Pro) n.1141A>C c.320A>C (p.Gln107Pro) n.1135A>C | |
X | g.53255982G>A | CA413172019 | IQSEC2 | c.976C>T (p.Gln326Ter) c.106C>T (p.Gln36Ter) c.817C>T (p.Gln273Ter) c.787C>T (p.Gln263Ter) c.202C>T (p.Gln68Ter) c.913C>T (p.Gln305Ter) c.139C>T (p.Gln47Ter) n.1140C>T c.319C>T (p.Gln107Ter) n.1134C>T | |
X | g.53255982G>C | CA413172020 | IQSEC2 | c.976C>G (p.Gln326Glu) c.106C>G (p.Gln36Glu) c.817C>G (p.Gln273Glu) c.787C>G (p.Gln263Glu) c.202C>G (p.Gln68Glu) c.913C>G (p.Gln305Glu) c.139C>G (p.Gln47Glu) n.1140C>G c.319C>G (p.Gln107Glu) n.1134C>G | |
X | g.53255982G>T | CA413172023 | IQSEC2 | c.976C>A (p.Gln326Lys) c.106C>A (p.Gln36Lys) c.817C>A (p.Gln273Lys) c.787C>A (p.Gln263Lys) c.202C>A (p.Gln68Lys) c.913C>A (p.Gln305Lys) c.139C>A (p.Gln47Lys) n.1140C>A c.319C>A (p.Gln107Lys) n.1134C>A | |
X | g.53255983G>A | CA516674583 | IQSEC2 | c.975C>T (p.Ser325=) c.105C>T (p.Ser35=) c.816C>T (p.Ser272=) c.786C>T (p.Ser262=) c.201C>T (p.Ser67=) c.912C>T (p.Ser304=) c.138C>T (p.Ser46=) n.1139C>T c.318C>T (p.Ser106=) n.1133C>T | |
X | g.53255983G>C | CA413172025 | IQSEC2 | c.975C>G (p.Ser325Arg) c.105C>G (p.Ser35Arg) c.816C>G (p.Ser272Arg) c.786C>G (p.Ser262Arg) c.201C>G (p.Ser67Arg) c.912C>G (p.Ser304Arg) c.138C>G (p.Ser46Arg) n.1139C>G c.318C>G (p.Ser106Arg) n.1133C>G | |
X | g.53255983G>T | CA413172028 | IQSEC2 | c.975C>A (p.Ser325Arg) c.105C>A (p.Ser35Arg) c.816C>A (p.Ser272Arg) c.786C>A (p.Ser262Arg) c.201C>A (p.Ser67Arg) c.912C>A (p.Ser304Arg) c.138C>A (p.Ser46Arg) n.1139C>A c.318C>A (p.Ser106Arg) n.1133C>A | gnomAD v4 |
X | g.53255984C>A | CA413172031 | IQSEC2 | c.974G>T (p.Ser325Ile) c.104G>T (p.Ser35Ile) c.815G>T (p.Ser272Ile) c.785G>T (p.Ser262Ile) c.200G>T (p.Ser67Ile) c.911G>T (p.Ser304Ile) c.137G>T (p.Ser46Ile) n.1138G>T c.317G>T (p.Ser106Ile) n.1132G>T | |
X | g.53255984C>G | CA413172034 | IQSEC2 | c.974G>C (p.Ser325Thr) c.104G>C (p.Ser35Thr) c.815G>C (p.Ser272Thr) c.785G>C (p.Ser262Thr) c.200G>C (p.Ser67Thr) c.911G>C (p.Ser304Thr) c.137G>C (p.Ser46Thr) n.1138G>C c.317G>C (p.Ser106Thr) n.1132G>C | |
X | g.53255984C>T | CA413172035 | IQSEC2 | c.974G>A (p.Ser325Asn) c.104G>A (p.Ser35Asn) c.815G>A (p.Ser272Asn) c.785G>A (p.Ser262Asn) c.200G>A (p.Ser67Asn) c.911G>A (p.Ser304Asn) c.137G>A (p.Ser46Asn) n.1138G>A c.317G>A (p.Ser106Asn) n.1132G>A | |
X | g.53255985T>A | CA413172042 | IQSEC2 | c.973A>T (p.Ser325Cys) c.103A>T (p.Ser35Cys) c.814A>T (p.Ser272Cys) c.784A>T (p.Ser262Cys) c.199A>T (p.Ser67Cys) c.910A>T (p.Ser304Cys) c.136A>T (p.Ser46Cys) n.1137A>T c.316A>T (p.Ser106Cys) n.1131A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53255985T>C | CA10420142 | IQSEC2 | c.973A>G (p.Ser325Gly) c.103A>G (p.Ser35Gly) c.814A>G (p.Ser272Gly) c.784A>G (p.Ser262Gly) c.199A>G (p.Ser67Gly) c.910A>G (p.Ser304Gly) c.136A>G (p.Ser46Gly) n.1137A>G c.316A>G (p.Ser106Gly) n.1131A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255985T>G | CA413172039 | IQSEC2 | c.973A>C (p.Ser325Arg) c.103A>C (p.Ser35Arg) c.814A>C (p.Ser272Arg) c.784A>C (p.Ser262Arg) c.199A>C (p.Ser67Arg) c.910A>C (p.Ser304Arg) c.136A>C (p.Ser46Arg) n.1137A>C c.316A>C (p.Ser106Arg) n.1131A>C | |
X | g.53255985T= | CA2429777214 | IQSEC2 | c.973A= (p.Ser325=) c.103A= (p.Ser35=) c.814A= (p.Ser272=) c.784A= (p.Ser262=) c.199A= (p.Ser67=) c.910A= (p.Ser304=) c.136A= (p.Ser46=) n.1137A= c.316A= (p.Ser106=) n.1131A= | |
X | g.53255986C>A | CA516674584 | IQSEC2 | c.972G>T (p.Leu324=) c.102G>T (p.Leu34=) c.813G>T (p.Leu271=) c.783G>T (p.Leu261=) c.198G>T (p.Leu66=) c.909G>T (p.Leu303=) c.135G>T (p.Leu45=) n.1136G>T c.315G>T (p.Leu105=) n.1130G>T | |
X | g.53255986C>G | CA516674585 | IQSEC2 | c.972G>C (p.Leu324=) c.102G>C (p.Leu34=) c.813G>C (p.Leu271=) c.783G>C (p.Leu261=) c.198G>C (p.Leu66=) c.909G>C (p.Leu303=) c.135G>C (p.Leu45=) n.1136G>C c.315G>C (p.Leu105=) n.1130G>C | |
X | g.53255986C>T | CA516674586 | IQSEC2 | c.972G>A (p.Leu324=) c.102G>A (p.Leu34=) c.813G>A (p.Leu271=) c.783G>A (p.Leu261=) c.198G>A (p.Leu66=) c.909G>A (p.Leu303=) c.135G>A (p.Leu45=) n.1136G>A c.315G>A (p.Leu105=) n.1130G>A | |
X | g.53255987A>C | CA413172045 | IQSEC2 | c.971T>G (p.Leu324Arg) c.101T>G (p.Leu34Arg) c.812T>G (p.Leu271Arg) c.782T>G (p.Leu261Arg) c.197T>G (p.Leu66Arg) c.908T>G (p.Leu303Arg) c.134T>G (p.Leu45Arg) n.1135T>G c.314T>G (p.Leu105Arg) n.1129T>G | |
X | g.53255987A>G | CA413172050 | IQSEC2 | c.971T>C (p.Leu324Pro) c.101T>C (p.Leu34Pro) c.812T>C (p.Leu271Pro) c.782T>C (p.Leu261Pro) c.197T>C (p.Leu66Pro) c.908T>C (p.Leu303Pro) c.134T>C (p.Leu45Pro) n.1135T>C c.314T>C (p.Leu105Pro) n.1129T>C | |
X | g.53255987A>T | CA413172047 | IQSEC2 | c.971T>A (p.Leu324Gln) c.101T>A (p.Leu34Gln) c.812T>A (p.Leu271Gln) c.782T>A (p.Leu261Gln) c.197T>A (p.Leu66Gln) c.908T>A (p.Leu303Gln) c.134T>A (p.Leu45Gln) n.1135T>A c.314T>A (p.Leu105Gln) n.1129T>A | |
X | g.53255988G>A | CA516674587 | IQSEC2 | c.970C>T (p.Leu324=) c.100C>T (p.Leu34=) c.811C>T (p.Leu271=) c.781C>T (p.Leu261=) c.196C>T (p.Leu66=) c.907C>T (p.Leu303=) c.133C>T (p.Leu45=) n.1134C>T c.313C>T (p.Leu105=) n.1128C>T | |
X | g.53255988G>C | CA413172053 | IQSEC2 | c.970C>G (p.Leu324Val) c.100C>G (p.Leu34Val) c.811C>G (p.Leu271Val) c.781C>G (p.Leu261Val) c.196C>G (p.Leu66Val) c.907C>G (p.Leu303Val) c.133C>G (p.Leu45Val) n.1134C>G c.313C>G (p.Leu105Val) n.1128C>G | |
X | g.53255988G>T | CA413172056 | IQSEC2 | c.970C>A (p.Leu324Met) c.100C>A (p.Leu34Met) c.811C>A (p.Leu271Met) c.781C>A (p.Leu261Met) c.196C>A (p.Leu66Met) c.907C>A (p.Leu303Met) c.133C>A (p.Leu45Met) n.1134C>A c.313C>A (p.Leu105Met) n.1128C>A | |
X | g.53255989C>A | CA516674588 | IQSEC2 | c.969G>T (p.Arg323=) c.99G>T (p.Arg33=) c.810G>T (p.Arg270=) c.780G>T (p.Arg260=) c.195G>T (p.Arg65=) c.906G>T (p.Arg302=) c.132G>T (p.Arg44=) n.1133G>T c.312G>T (p.Arg104=) n.1127G>T | gnomAD v4 |
X | g.53255989C= | CA2429777215 | IQSEC2 | c.969G= (p.Arg323=) c.99G= (p.Arg33=) c.810G= (p.Arg270=) c.780G= (p.Arg260=) c.195G= (p.Arg65=) c.906G= (p.Arg302=) c.132G= (p.Arg44=) n.1133G= c.312G= (p.Arg104=) n.1127G= | |
X | g.53255989C>G | CA516674589 | IQSEC2 | c.969G>C (p.Arg323=) c.99G>C (p.Arg33=) c.810G>C (p.Arg270=) c.780G>C (p.Arg260=) c.195G>C (p.Arg65=) c.906G>C (p.Arg302=) c.132G>C (p.Arg44=) n.1133G>C c.312G>C (p.Arg104=) n.1127G>C | |
X | g.53255989C>T | CA516674590 | IQSEC2 | c.969G>A (p.Arg323=) c.99G>A (p.Arg33=) c.810G>A (p.Arg270=) c.780G>A (p.Arg260=) c.195G>A (p.Arg65=) c.906G>A (p.Arg302=) c.132G>A (p.Arg44=) n.1133G>A c.312G>A (p.Arg104=) n.1127G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53255990C>A | CA413172059 | IQSEC2 | c.968G>T (p.Arg323Leu) c.98G>T (p.Arg33Leu) c.809G>T (p.Arg270Leu) c.779G>T (p.Arg260Leu) c.194G>T (p.Arg65Leu) c.905G>T (p.Arg302Leu) c.131G>T (p.Arg44Leu) n.1132G>T c.311G>T (p.Arg104Leu) n.1126G>T | |
X | g.53255990C= | CA2429777216 | IQSEC2 | c.968G= (p.Arg323=) c.98G= (p.Arg33=) c.809G= (p.Arg270=) c.779G= (p.Arg260=) c.194G= (p.Arg65=) c.905G= (p.Arg302=) c.131G= (p.Arg44=) n.1132G= c.311G= (p.Arg104=) n.1126G= | |
X | g.53255990C>G | CA413172062 | IQSEC2 | c.968G>C (p.Arg323Pro) c.98G>C (p.Arg33Pro) c.809G>C (p.Arg270Pro) c.779G>C (p.Arg260Pro) c.194G>C (p.Arg65Pro) c.905G>C (p.Arg302Pro) c.131G>C (p.Arg44Pro) n.1132G>C c.311G>C (p.Arg104Pro) n.1126G>C | |
X | g.53255990C>T | CA10420143 | IQSEC2 | c.968G>A (p.Arg323Gln) c.98G>A (p.Arg33Gln) c.809G>A (p.Arg270Gln) c.779G>A (p.Arg260Gln) c.194G>A (p.Arg65Gln) c.905G>A (p.Arg302Gln) c.131G>A (p.Arg44Gln) n.1132G>A c.311G>A (p.Arg104Gln) n.1126G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255991G>A | CA413172066 | IQSEC2 | c.967C>T (p.Arg323Trp) c.97C>T (p.Arg33Trp) c.808C>T (p.Arg270Trp) c.778C>T (p.Arg260Trp) c.193C>T (p.Arg65Trp) c.904C>T (p.Arg302Trp) c.130C>T (p.Arg44Trp) n.1131C>T c.310C>T (p.Arg104Trp) n.1125C>T | ClinVar dbSNP gnomAD v4 |
X | g.53255991G>C | CA413172069 | IQSEC2 | c.967C>G (p.Arg323Gly) c.97C>G (p.Arg33Gly) c.808C>G (p.Arg270Gly) c.778C>G (p.Arg260Gly) c.193C>G (p.Arg65Gly) c.904C>G (p.Arg302Gly) c.130C>G (p.Arg44Gly) n.1131C>G c.310C>G (p.Arg104Gly) n.1125C>G | |
X | g.53255991G= | CA2429777217 | IQSEC2 | c.967C= (p.Arg323=) c.97C= (p.Arg33=) c.808C= (p.Arg270=) c.778C= (p.Arg260=) c.193C= (p.Arg65=) c.904C= (p.Arg302=) c.130C= (p.Arg44=) n.1131C= c.310C= (p.Arg104=) n.1125C= | |
X | g.53255991G>T | CA516674591 | IQSEC2 | c.967C>A (p.Arg323=) c.97C>A (p.Arg33=) c.808C>A (p.Arg270=) c.778C>A (p.Arg260=) c.193C>A (p.Arg65=) c.904C>A (p.Arg302=) c.130C>A (p.Arg44=) n.1131C>A c.310C>A (p.Arg104=) n.1125C>A | gnomAD v4 |
X | g.53255992G>A | CA516674592 | IQSEC2 | c.966C>T (p.Tyr322=) c.96C>T (p.Tyr32=) c.807C>T (p.Tyr269=) c.777C>T (p.Tyr259=) c.192C>T (p.Tyr64=) c.903C>T (p.Tyr301=) c.129C>T (p.Tyr43=) n.1130C>T c.309C>T (p.Tyr103=) n.1124C>T | |
X | g.53255992G>C | CA413172071 | IQSEC2 | c.966C>G (p.Tyr322Ter) c.96C>G (p.Tyr32Ter) c.807C>G (p.Tyr269Ter) c.777C>G (p.Tyr259Ter) c.192C>G (p.Tyr64Ter) c.903C>G (p.Tyr301Ter) c.129C>G (p.Tyr43Ter) n.1130C>G c.309C>G (p.Tyr103Ter) n.1124C>G | |
X | g.53255992G= | CA2429777218 | IQSEC2 | c.966C= (p.Tyr322=) c.96C= (p.Tyr32=) c.807C= (p.Tyr269=) c.777C= (p.Tyr259=) c.192C= (p.Tyr64=) c.903C= (p.Tyr301=) c.129C= (p.Tyr43=) n.1130C= c.309C= (p.Tyr103=) n.1124C= | |
X | g.53255992G>T | CA413172075 | IQSEC2 | c.966C>A (p.Tyr322Ter) c.96C>A (p.Tyr32Ter) c.807C>A (p.Tyr269Ter) c.777C>A (p.Tyr259Ter) c.192C>A (p.Tyr64Ter) c.903C>A (p.Tyr301Ter) c.129C>A (p.Tyr43Ter) n.1130C>A c.309C>A (p.Tyr103Ter) n.1124C>A | |
X | g.53255993T>A | CA413172078 | IQSEC2 | c.965A>T (p.Tyr322Phe) c.95A>T (p.Tyr32Phe) c.806A>T (p.Tyr269Phe) c.776A>T (p.Tyr259Phe) c.191A>T (p.Tyr64Phe) c.902A>T (p.Tyr301Phe) c.128A>T (p.Tyr43Phe) n.1129A>T c.308A>T (p.Tyr103Phe) n.1123A>T | |
X | g.53255993T>C | CA413172081 | IQSEC2 | c.965A>G (p.Tyr322Cys) c.95A>G (p.Tyr32Cys) c.806A>G (p.Tyr269Cys) c.776A>G (p.Tyr259Cys) c.191A>G (p.Tyr64Cys) c.902A>G (p.Tyr301Cys) c.128A>G (p.Tyr43Cys) n.1129A>G c.308A>G (p.Tyr103Cys) n.1123A>G | |
X | g.53255993T>G | CA413172084 | IQSEC2 | c.965A>C (p.Tyr322Ser) c.95A>C (p.Tyr32Ser) c.806A>C (p.Tyr269Ser) c.776A>C (p.Tyr259Ser) c.191A>C (p.Tyr64Ser) c.902A>C (p.Tyr301Ser) c.128A>C (p.Tyr43Ser) n.1129A>C c.308A>C (p.Tyr103Ser) n.1123A>C | |
X | g.53255993_53256002dup | CA915951104 | IQSEC2 | c.956_965dup (p.Tyr322Ter) c.86_95dup (p.Tyr32Ter) c.797_806dup (p.Tyr269Ter) c.767_776dup (p.Tyr259Ter) c.182_191dup (p.Tyr64Ter) c.893_902dup (p.Tyr301Ter) c.119_128dup (p.Tyr43Ter) n.1120_1129dup c.299_308dup (p.Tyr103Ter) n.1114_1123dup | ClinVar dbSNP |
X | g.53255994A>C | CA413172092 | IQSEC2 | c.964T>G (p.Tyr322Asp) c.94T>G (p.Tyr32Asp) c.805T>G (p.Tyr269Asp) c.775T>G (p.Tyr259Asp) c.190T>G (p.Tyr64Asp) c.901T>G (p.Tyr301Asp) c.127T>G (p.Tyr43Asp) n.1128T>G c.307T>G (p.Tyr103Asp) n.1122T>G | |
X | g.53255994A>G | CA413172091 | IQSEC2 | c.964T>C (p.Tyr322His) c.94T>C (p.Tyr32His) c.805T>C (p.Tyr269His) c.775T>C (p.Tyr259His) c.190T>C (p.Tyr64His) c.901T>C (p.Tyr301His) c.127T>C (p.Tyr43His) n.1128T>C c.307T>C (p.Tyr103His) n.1122T>C | |
X | g.53255994A>T | CA413172087 | IQSEC2 | c.964T>A (p.Tyr322Asn) c.94T>A (p.Tyr32Asn) c.805T>A (p.Tyr269Asn) c.775T>A (p.Tyr259Asn) c.190T>A (p.Tyr64Asn) c.901T>A (p.Tyr301Asn) c.127T>A (p.Tyr43Asn) n.1128T>A c.307T>A (p.Tyr103Asn) n.1122T>A | |
X | g.53255994_53255995delinsAG | CA2429777219 | IQSEC2 | c.963_964delinsCT (p.Pro321=) c.93_94delinsCT (p.Pro31=) c.804_805delinsCT (p.Pro268=) c.774_775delinsCT (p.Pro258=) c.189_190delinsCT (p.Pro63=) c.900_901delinsCT (p.Pro300=) c.126_127delinsCT (p.Pro42=) n.1127_1128delinsCT c.306_307delinsCT (p.Pro102=) n.1121_1122delinsCT | |
X | g.53255995G>A | CA516674594 | IQSEC2 | c.963C>T (p.Pro321=) c.93C>T (p.Pro31=) c.804C>T (p.Pro268=) c.774C>T (p.Pro258=) c.189C>T (p.Pro63=) c.900C>T (p.Pro300=) c.126C>T (p.Pro42=) n.1127C>T c.306C>T (p.Pro102=) n.1121C>T | |
X | g.53255995G>C | CA516674593 | IQSEC2 | c.963C>G (p.Pro321=) c.93C>G (p.Pro31=) c.804C>G (p.Pro268=) c.774C>G (p.Pro258=) c.189C>G (p.Pro63=) c.900C>G (p.Pro300=) c.126C>G (p.Pro42=) n.1127C>G c.306C>G (p.Pro102=) n.1121C>G | |
X | g.53255995G= | CA2429777220 | IQSEC2 | c.963C= (p.Pro321=) c.93C= (p.Pro31=) c.804C= (p.Pro268=) c.774C= (p.Pro258=) c.189C= (p.Pro63=) c.900C= (p.Pro300=) c.126C= (p.Pro42=) n.1127C= c.306C= (p.Pro102=) n.1121C= | |
X | g.53255995G>T | CA516674595 | IQSEC2 | c.963C>A (p.Pro321=) c.93C>A (p.Pro31=) c.804C>A (p.Pro268=) c.774C>A (p.Pro258=) c.189C>A (p.Pro63=) c.900C>A (p.Pro300=) c.126C>A (p.Pro42=) n.1127C>A c.306C>A (p.Pro102=) n.1121C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53256000del | CA10603504 | IQSEC2 | c.963del (p.Tyr322ThrfsTer3) c.93del (p.Tyr32ThrfsTer3) c.804del (p.Tyr269ThrfsTer3) c.774del (p.Tyr259ThrfsTer3) c.189del (p.Tyr64ThrfsTer3) c.900del (p.Tyr301ThrfsTer3) c.126del (p.Tyr43ThrfsTer3) n.1127del c.306del (p.Tyr103ThrfsTer3) n.1121del | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.53255996G>A | CA413172099 | IQSEC2 | c.962C>T (p.Pro321Leu) c.92C>T (p.Pro31Leu) c.803C>T (p.Pro268Leu) c.773C>T (p.Pro258Leu) c.188C>T (p.Pro63Leu) c.899C>T (p.Pro300Leu) c.125C>T (p.Pro42Leu) n.1126C>T c.305C>T (p.Pro102Leu) n.1120C>T | gnomAD v4 |
X | g.53255996G>C | CA413172102 | IQSEC2 | c.962C>G (p.Pro321Arg) c.92C>G (p.Pro31Arg) c.803C>G (p.Pro268Arg) c.773C>G (p.Pro258Arg) c.188C>G (p.Pro63Arg) c.899C>G (p.Pro300Arg) c.125C>G (p.Pro42Arg) n.1126C>G c.305C>G (p.Pro102Arg) n.1120C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255996G= | CA2429777221 | IQSEC2 | c.962C= (p.Pro321=) c.92C= (p.Pro31=) c.803C= (p.Pro268=) c.773C= (p.Pro258=) c.188C= (p.Pro63=) c.899C= (p.Pro300=) c.125C= (p.Pro42=) n.1126C= c.305C= (p.Pro102=) n.1120C= | |
X | g.53255996G>T | CA10420144 | IQSEC2 | c.962C>A (p.Pro321His) c.92C>A (p.Pro31His) c.803C>A (p.Pro268His) c.773C>A (p.Pro258His) c.188C>A (p.Pro63His) c.899C>A (p.Pro300His) c.125C>A (p.Pro42His) n.1126C>A c.305C>A (p.Pro102His) n.1120C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255997G>A | CA413172105 | IQSEC2 | c.961C>T (p.Pro321Ser) c.91C>T (p.Pro31Ser) c.802C>T (p.Pro268Ser) c.772C>T (p.Pro258Ser) c.187C>T (p.Pro63Ser) c.898C>T (p.Pro300Ser) c.124C>T (p.Pro42Ser) n.1125C>T c.304C>T (p.Pro102Ser) n.1119C>T | gnomAD v4 |
X | g.53255997G>C | CA413172107 | IQSEC2 | c.961C>G (p.Pro321Ala) c.91C>G (p.Pro31Ala) c.802C>G (p.Pro268Ala) c.772C>G (p.Pro258Ala) c.187C>G (p.Pro63Ala) c.898C>G (p.Pro300Ala) c.124C>G (p.Pro42Ala) n.1125C>G c.304C>G (p.Pro102Ala) n.1119C>G | |
X | g.53255997G>T | CA413172110 | IQSEC2 | c.961C>A (p.Pro321Thr) c.91C>A (p.Pro31Thr) c.802C>A (p.Pro268Thr) c.772C>A (p.Pro258Thr) c.187C>A (p.Pro63Thr) c.898C>A (p.Pro300Thr) c.124C>A (p.Pro42Thr) n.1125C>A c.304C>A (p.Pro102Thr) n.1119C>A | gnomAD v4 |
X | g.53255998G>A | CA516674596 | IQSEC2 | c.960C>T (p.Pro320=) c.90C>T (p.Pro30=) c.801C>T (p.Pro267=) c.771C>T (p.Pro257=) c.186C>T (p.Pro62=) c.897C>T (p.Pro299=) c.123C>T (p.Pro41=) n.1124C>T c.303C>T (p.Pro101=) n.1118C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53255998G>C | CA516674597 | IQSEC2 | c.960C>G (p.Pro320=) c.90C>G (p.Pro30=) c.801C>G (p.Pro267=) c.771C>G (p.Pro257=) c.186C>G (p.Pro62=) c.897C>G (p.Pro299=) c.123C>G (p.Pro41=) n.1124C>G c.303C>G (p.Pro101=) n.1118C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53255998G= | CA2429777222 | IQSEC2 | c.960C= (p.Pro320=) c.90C= (p.Pro30=) c.801C= (p.Pro267=) c.771C= (p.Pro257=) c.186C= (p.Pro62=) c.897C= (p.Pro299=) c.123C= (p.Pro41=) n.1124C= c.303C= (p.Pro101=) n.1118C= | |
X | g.53255998G>T | CA516674598 | IQSEC2 | c.960C>A (p.Pro320=) c.90C>A (p.Pro30=) c.801C>A (p.Pro267=) c.771C>A (p.Pro257=) c.186C>A (p.Pro62=) c.897C>A (p.Pro299=) c.123C>A (p.Pro41=) n.1124C>A c.303C>A (p.Pro101=) n.1118C>A | |
X | g.53255999G>A | CA413172113 | IQSEC2 | c.959C>T (p.Pro320Leu) c.89C>T (p.Pro30Leu) c.800C>T (p.Pro267Leu) c.770C>T (p.Pro257Leu) c.185C>T (p.Pro62Leu) c.896C>T (p.Pro299Leu) c.122C>T (p.Pro41Leu) n.1123C>T c.302C>T (p.Pro101Leu) n.1117C>T | ClinVar dbSNP gnomAD v4 |
X | g.53255999G>C | CA413172115 | IQSEC2 | c.959C>G (p.Pro320Arg) c.89C>G (p.Pro30Arg) c.800C>G (p.Pro267Arg) c.770C>G (p.Pro257Arg) c.185C>G (p.Pro62Arg) c.896C>G (p.Pro299Arg) c.122C>G (p.Pro41Arg) n.1123C>G c.302C>G (p.Pro101Arg) n.1117C>G | |
X | g.53255999G= | CA2429777223 | IQSEC2 | c.959C= (p.Pro320=) c.89C= (p.Pro30=) c.800C= (p.Pro267=) c.770C= (p.Pro257=) c.185C= (p.Pro62=) c.896C= (p.Pro299=) c.122C= (p.Pro41=) n.1123C= c.302C= (p.Pro101=) n.1117C= | |
X | g.53255999G>T | CA413172118 | IQSEC2 | c.959C>A (p.Pro320His) c.89C>A (p.Pro30His) c.800C>A (p.Pro267His) c.770C>A (p.Pro257His) c.185C>A (p.Pro62His) c.896C>A (p.Pro299His) c.122C>A (p.Pro41His) n.1123C>A c.302C>A (p.Pro101His) n.1117C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53256000G>A | CA413172121 | IQSEC2 | c.958C>T (p.Pro320Ser) c.88C>T (p.Pro30Ser) c.799C>T (p.Pro267Ser) c.769C>T (p.Pro257Ser) c.184C>T (p.Pro62Ser) c.895C>T (p.Pro299Ser) c.121C>T (p.Pro41Ser) n.1122C>T c.301C>T (p.Pro101Ser) n.1116C>T | gnomAD v4 |
X | g.53256000G>C | CA413172124 | IQSEC2 | c.958C>G (p.Pro320Ala) c.88C>G (p.Pro30Ala) c.799C>G (p.Pro267Ala) c.769C>G (p.Pro257Ala) c.184C>G (p.Pro62Ala) c.895C>G (p.Pro299Ala) c.121C>G (p.Pro41Ala) n.1122C>G c.301C>G (p.Pro101Ala) n.1116C>G | |
X | g.53256000G>T | CA413172127 | IQSEC2 | c.958C>A (p.Pro320Thr) c.88C>A (p.Pro30Thr) c.799C>A (p.Pro267Thr) c.769C>A (p.Pro257Thr) c.184C>A (p.Pro62Thr) c.895C>A (p.Pro299Thr) c.121C>A (p.Pro41Thr) n.1122C>A c.301C>A (p.Pro101Thr) n.1116C>A | |
X | g.53256001T>A | CA413172130 | IQSEC2 | c.957A>T (p.Gln319His) c.87A>T (p.Gln29His) c.798A>T (p.Gln266His) c.768A>T (p.Gln256His) c.183A>T (p.Gln61His) c.894A>T (p.Gln298His) c.120A>T (p.Gln40His) n.1121A>T c.300A>T (p.Gln100His) n.1115A>T | |
X | g.53256001T>C | CA516674599 | IQSEC2 | c.957A>G (p.Gln319=) c.87A>G (p.Gln29=) c.798A>G (p.Gln266=) c.768A>G (p.Gln256=) c.183A>G (p.Gln61=) c.894A>G (p.Gln298=) c.120A>G (p.Gln40=) n.1121A>G c.300A>G (p.Gln100=) n.1115A>G | gnomAD v4 |
X | g.53256001T>G | CA413172132 | IQSEC2 | c.957A>C (p.Gln319His) c.87A>C (p.Gln29His) c.798A>C (p.Gln266His) c.768A>C (p.Gln256His) c.183A>C (p.Gln61His) c.894A>C (p.Gln298His) c.120A>C (p.Gln40His) n.1121A>C c.300A>C (p.Gln100His) n.1115A>C | dbSNP gnomAD v4 |
X | g.53256001T= | CA2429777224 | IQSEC2 | c.957A= (p.Gln319=) c.87A= (p.Gln29=) c.798A= (p.Gln266=) c.768A= (p.Gln256=) c.183A= (p.Gln61=) c.894A= (p.Gln298=) c.120A= (p.Gln40=) n.1121A= c.300A= (p.Gln100=) n.1115A= | |
X | g.53256002T>A | CA413172134 | IQSEC2 | c.956A>T (p.Gln319Leu) c.86A>T (p.Gln29Leu) c.797A>T (p.Gln266Leu) c.767A>T (p.Gln256Leu) c.182A>T (p.Gln61Leu) c.893A>T (p.Gln298Leu) c.119A>T (p.Gln40Leu) n.1120A>T c.299A>T (p.Gln100Leu) n.1114A>T | |
X | g.53256002T>C | CA413172137 | IQSEC2 | c.956A>G (p.Gln319Arg) c.86A>G (p.Gln29Arg) c.797A>G (p.Gln266Arg) c.767A>G (p.Gln256Arg) c.182A>G (p.Gln61Arg) c.893A>G (p.Gln298Arg) c.119A>G (p.Gln40Arg) n.1120A>G c.299A>G (p.Gln100Arg) n.1114A>G | gnomAD v4 |
X | g.53256002T>G | CA413172139 | IQSEC2 | c.956A>C (p.Gln319Pro) c.86A>C (p.Gln29Pro) c.797A>C (p.Gln266Pro) c.767A>C (p.Gln256Pro) c.182A>C (p.Gln61Pro) c.893A>C (p.Gln298Pro) c.119A>C (p.Gln40Pro) n.1120A>C c.299A>C (p.Gln100Pro) n.1114A>C | |
X | g.53256003G>A | CA413172142 | IQSEC2 | c.955C>T (p.Gln319Ter) c.85C>T (p.Gln29Ter) c.796C>T (p.Gln266Ter) c.766C>T (p.Gln256Ter) c.181C>T (p.Gln61Ter) c.892C>T (p.Gln298Ter) c.118C>T (p.Gln40Ter) n.1119C>T c.298C>T (p.Gln100Ter) n.1113C>T | |
X | g.53256003G>C | CA413172143 | IQSEC2 | c.955C>G (p.Gln319Glu) c.85C>G (p.Gln29Glu) c.796C>G (p.Gln266Glu) c.766C>G (p.Gln256Glu) c.181C>G (p.Gln61Glu) c.892C>G (p.Gln298Glu) c.118C>G (p.Gln40Glu) n.1119C>G c.298C>G (p.Gln100Glu) n.1113C>G | |
X | g.53256003G>T | CA413172146 | IQSEC2 | c.955C>A (p.Gln319Lys) c.85C>A (p.Gln29Lys) c.796C>A (p.Gln266Lys) c.766C>A (p.Gln256Lys) c.181C>A (p.Gln61Lys) c.892C>A (p.Gln298Lys) c.118C>A (p.Gln40Lys) n.1119C>A c.298C>A (p.Gln100Lys) n.1113C>A | |
X | g.53256004G>A | CA516674600 | IQSEC2 | c.954C>T (p.Ser318=) c.84C>T (p.Ser28=) c.795C>T (p.Ser265=) c.765C>T (p.Ser255=) c.180C>T (p.Ser60=) c.891C>T (p.Ser297=) c.117C>T (p.Ser39=) n.1118C>T c.297C>T (p.Ser99=) n.1112C>T | gnomAD v4 |
X | g.53256004G>C | CA413172153 | IQSEC2 | c.954C>G (p.Ser318Arg) c.84C>G (p.Ser28Arg) c.795C>G (p.Ser265Arg) c.765C>G (p.Ser255Arg) c.180C>G (p.Ser60Arg) c.891C>G (p.Ser297Arg) c.117C>G (p.Ser39Arg) n.1118C>G c.297C>G (p.Ser99Arg) n.1112C>G | |
X | g.53256004G>T | CA413172150 | IQSEC2 | c.954C>A (p.Ser318Arg) c.84C>A (p.Ser28Arg) c.795C>A (p.Ser265Arg) c.765C>A (p.Ser255Arg) c.180C>A (p.Ser60Arg) c.891C>A (p.Ser297Arg) c.117C>A (p.Ser39Arg) n.1118C>A c.297C>A (p.Ser99Arg) n.1112C>A | |
X | g.53256005C>A | CA413172155 | IQSEC2 | c.953G>T (p.Ser318Ile) c.83G>T (p.Ser28Ile) c.794G>T (p.Ser265Ile) c.764G>T (p.Ser255Ile) c.179G>T (p.Ser60Ile) c.890G>T (p.Ser297Ile) c.116G>T (p.Ser39Ile) n.1117G>T c.296G>T (p.Ser99Ile) n.1111G>T | |
X | g.53256005C= | CA2429777225 | IQSEC2 | c.953G= (p.Ser318=) c.83G= (p.Ser28=) c.794G= (p.Ser265=) c.764G= (p.Ser255=) c.179G= (p.Ser60=) c.890G= (p.Ser297=) c.116G= (p.Ser39=) n.1117G= c.296G= (p.Ser99=) n.1111G= | |
X | g.53256005C>G | CA413172157 | IQSEC2 | c.953G>C (p.Ser318Thr) c.83G>C (p.Ser28Thr) c.794G>C (p.Ser265Thr) c.764G>C (p.Ser255Thr) c.179G>C (p.Ser60Thr) c.890G>C (p.Ser297Thr) c.116G>C (p.Ser39Thr) n.1117G>C c.296G>C (p.Ser99Thr) n.1111G>C | |
X | g.53256005C>T | CA413172160 | IQSEC2 | c.953G>A (p.Ser318Asn) c.83G>A (p.Ser28Asn) c.794G>A (p.Ser265Asn) c.764G>A (p.Ser255Asn) c.179G>A (p.Ser60Asn) c.890G>A (p.Ser297Asn) c.116G>A (p.Ser39Asn) n.1117G>A c.296G>A (p.Ser99Asn) n.1111G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256006T>A | CA413172165 | IQSEC2 | c.952A>T (p.Ser318Cys) c.82A>T (p.Ser28Cys) c.793A>T (p.Ser265Cys) c.763A>T (p.Ser255Cys) c.178A>T (p.Ser60Cys) c.889A>T (p.Ser297Cys) c.115A>T (p.Ser39Cys) n.1116A>T c.295A>T (p.Ser99Cys) n.1110A>T | |
X | g.53256006T>C | CA413172167 | IQSEC2 | c.952A>G (p.Ser318Gly) c.82A>G (p.Ser28Gly) c.793A>G (p.Ser265Gly) c.763A>G (p.Ser255Gly) c.178A>G (p.Ser60Gly) c.889A>G (p.Ser297Gly) c.115A>G (p.Ser39Gly) n.1116A>G c.295A>G (p.Ser99Gly) n.1110A>G | |
X | g.53256006T>G | CA413172169 | IQSEC2 | c.952A>C (p.Ser318Arg) c.82A>C (p.Ser28Arg) c.793A>C (p.Ser265Arg) c.763A>C (p.Ser255Arg) c.178A>C (p.Ser60Arg) c.889A>C (p.Ser297Arg) c.115A>C (p.Ser39Arg) n.1116A>C c.295A>C (p.Ser99Arg) n.1110A>C | |
X | g.53256007C>A | CA516674601 | IQSEC2 | c.951G>T (p.Gly317=) c.81G>T (p.Gly27=) c.792G>T (p.Gly264=) c.762G>T (p.Gly254=) c.177G>T (p.Gly59=) c.888G>T (p.Gly296=) c.114G>T (p.Gly38=) n.1115G>T c.294G>T (p.Gly98=) n.1109G>T | |
X | g.53256007C>G | CA516674602 | IQSEC2 | c.951G>C (p.Gly317=) c.81G>C (p.Gly27=) c.792G>C (p.Gly264=) c.762G>C (p.Gly254=) c.177G>C (p.Gly59=) c.888G>C (p.Gly296=) c.114G>C (p.Gly38=) n.1115G>C c.294G>C (p.Gly98=) n.1109G>C | |
X | g.53256007C>T | CA516674603 | IQSEC2 | c.951G>A (p.Gly317=) c.81G>A (p.Gly27=) c.792G>A (p.Gly264=) c.762G>A (p.Gly254=) c.177G>A (p.Gly59=) c.888G>A (p.Gly296=) c.114G>A (p.Gly38=) n.1115G>A c.294G>A (p.Gly98=) n.1109G>A | |
X | g.53256008C>A | CA413172172 | IQSEC2 | c.950G>T (p.Gly317Val) c.80G>T (p.Gly27Val) c.791G>T (p.Gly264Val) c.761G>T (p.Gly254Val) c.176G>T (p.Gly59Val) c.887G>T (p.Gly296Val) c.113G>T (p.Gly38Val) n.1114G>T c.293G>T (p.Gly98Val) n.1108G>T | |
X | g.53256008C>G | CA413172177 | IQSEC2 | c.950G>C (p.Gly317Ala) c.80G>C (p.Gly27Ala) c.791G>C (p.Gly264Ala) c.761G>C (p.Gly254Ala) c.176G>C (p.Gly59Ala) c.887G>C (p.Gly296Ala) c.113G>C (p.Gly38Ala) n.1114G>C c.293G>C (p.Gly98Ala) n.1108G>C | |
X | g.53256008C>T | CA413172175 | IQSEC2 | c.950G>A (p.Gly317Glu) c.80G>A (p.Gly27Glu) c.791G>A (p.Gly264Glu) c.761G>A (p.Gly254Glu) c.176G>A (p.Gly59Glu) c.887G>A (p.Gly296Glu) c.113G>A (p.Gly38Glu) n.1114G>A c.293G>A (p.Gly98Glu) n.1108G>A | |
X | g.53256009C>A | CA413172180 | IQSEC2 | c.949G>T (p.Gly317Trp) c.79G>T (p.Gly27Trp) c.790G>T (p.Gly264Trp) c.760G>T (p.Gly254Trp) c.175G>T (p.Gly59Trp) c.886G>T (p.Gly296Trp) c.112G>T (p.Gly38Trp) n.1113G>T c.292G>T (p.Gly98Trp) n.1107G>T | gnomAD v4 |
X | g.53256009C>G | CA413172184 | IQSEC2 | c.949G>C (p.Gly317Arg) c.79G>C (p.Gly27Arg) c.790G>C (p.Gly264Arg) c.760G>C (p.Gly254Arg) c.175G>C (p.Gly59Arg) c.886G>C (p.Gly296Arg) c.112G>C (p.Gly38Arg) n.1113G>C c.292G>C (p.Gly98Arg) n.1107G>C | |
X | g.53256009C>T | CA413172193 | IQSEC2 | c.949G>A (p.Gly317Arg) c.79G>A (p.Gly27Arg) c.790G>A (p.Gly264Arg) c.760G>A (p.Gly254Arg) c.175G>A (p.Gly59Arg) c.886G>A (p.Gly296Arg) c.112G>A (p.Gly38Arg) n.1113G>A c.292G>A (p.Gly98Arg) n.1107G>A | gnomAD v4 |
X | g.53256010A>C | CA516674604 | IQSEC2 | c.948T>G (p.Pro316=) c.78T>G (p.Pro26=) c.789T>G (p.Pro263=) c.759T>G (p.Pro253=) c.174T>G (p.Pro58=) c.885T>G (p.Pro295=) c.111T>G (p.Pro37=) n.1112T>G c.291T>G (p.Pro97=) n.1106T>G | |
X | g.53256010A>G | CA516674605 | IQSEC2 | c.948T>C (p.Pro316=) c.78T>C (p.Pro26=) c.789T>C (p.Pro263=) c.759T>C (p.Pro253=) c.174T>C (p.Pro58=) c.885T>C (p.Pro295=) c.111T>C (p.Pro37=) n.1112T>C c.291T>C (p.Pro97=) n.1106T>C | |
X | g.53256010A>T | CA516674606 | IQSEC2 | c.948T>A (p.Pro316=) c.78T>A (p.Pro26=) c.789T>A (p.Pro263=) c.759T>A (p.Pro253=) c.174T>A (p.Pro58=) c.885T>A (p.Pro295=) c.111T>A (p.Pro37=) n.1112T>A c.291T>A (p.Pro97=) n.1106T>A | |
X | g.53256011G>A | CA413172194 | IQSEC2 | c.947C>T (p.Pro316Leu) c.77C>T (p.Pro26Leu) c.788C>T (p.Pro263Leu) c.758C>T (p.Pro253Leu) c.173C>T (p.Pro58Leu) c.884C>T (p.Pro295Leu) c.110C>T (p.Pro37Leu) n.1111C>T c.290C>T (p.Pro97Leu) n.1105C>T | |
X | g.53256011G>C | CA413172196 | IQSEC2 | c.947C>G (p.Pro316Arg) c.77C>G (p.Pro26Arg) c.788C>G (p.Pro263Arg) c.758C>G (p.Pro253Arg) c.173C>G (p.Pro58Arg) c.884C>G (p.Pro295Arg) c.110C>G (p.Pro37Arg) n.1111C>G c.290C>G (p.Pro97Arg) n.1105C>G | |
X | g.53256011G>T | CA413172198 | IQSEC2 | c.947C>A (p.Pro316His) c.77C>A (p.Pro26His) c.788C>A (p.Pro263His) c.758C>A (p.Pro253His) c.173C>A (p.Pro58His) c.884C>A (p.Pro295His) c.110C>A (p.Pro37His) n.1111C>A c.290C>A (p.Pro97His) n.1105C>A | gnomAD v4 |
X | g.53256012G>A | CA413172202 | IQSEC2 | c.946C>T (p.Pro316Ser) c.76C>T (p.Pro26Ser) c.787C>T (p.Pro263Ser) c.757C>T (p.Pro253Ser) c.172C>T (p.Pro58Ser) c.883C>T (p.Pro295Ser) c.109C>T (p.Pro37Ser) n.1110C>T c.289C>T (p.Pro97Ser) n.1104C>T | gnomAD v4 |
X | g.53256012G>C | CA413172203 | IQSEC2 | c.946C>G (p.Pro316Ala) c.76C>G (p.Pro26Ala) c.787C>G (p.Pro263Ala) c.757C>G (p.Pro253Ala) c.172C>G (p.Pro58Ala) c.883C>G (p.Pro295Ala) c.109C>G (p.Pro37Ala) n.1110C>G c.289C>G (p.Pro97Ala) n.1104C>G | |
X | g.53256012G>T | CA413172205 | IQSEC2 | c.946C>A (p.Pro316Thr) c.76C>A (p.Pro26Thr) c.787C>A (p.Pro263Thr) c.757C>A (p.Pro253Thr) c.172C>A (p.Pro58Thr) c.883C>A (p.Pro295Thr) c.109C>A (p.Pro37Thr) n.1110C>A c.289C>A (p.Pro97Thr) n.1104C>A | gnomAD v4 |
X | g.53256013A>C | CA413172207 | IQSEC2 | c.945T>G (p.Ser315Arg) c.75T>G (p.Ser25Arg) c.786T>G (p.Ser262Arg) c.756T>G (p.Ser252Arg) c.171T>G (p.Ser57Arg) c.882T>G (p.Ser294Arg) c.108T>G (p.Ser36Arg) n.1109T>G c.288T>G (p.Ser96Arg) n.1103T>G | |
X | g.53256013A>G | CA516674607 | IQSEC2 | c.945T>C (p.Ser315=) c.75T>C (p.Ser25=) c.786T>C (p.Ser262=) c.756T>C (p.Ser252=) c.171T>C (p.Ser57=) c.882T>C (p.Ser294=) c.108T>C (p.Ser36=) n.1109T>C c.288T>C (p.Ser96=) n.1103T>C | |
X | g.53256013A>T | CA413172209 | IQSEC2 | c.945T>A (p.Ser315Arg) c.75T>A (p.Ser25Arg) c.786T>A (p.Ser262Arg) c.756T>A (p.Ser252Arg) c.171T>A (p.Ser57Arg) c.882T>A (p.Ser294Arg) c.108T>A (p.Ser36Arg) n.1109T>A c.288T>A (p.Ser96Arg) n.1103T>A | |
X | g.53256014C>A | CA413172214 | IQSEC2 | c.944G>T (p.Ser315Ile) c.74G>T (p.Ser25Ile) c.785G>T (p.Ser262Ile) c.755G>T (p.Ser252Ile) c.170G>T (p.Ser57Ile) c.881G>T (p.Ser294Ile) c.107G>T (p.Ser36Ile) n.1108G>T c.287G>T (p.Ser96Ile) n.1102G>T | COSMIC COSMIC COSMIC |
X | g.53256014C>G | CA413172219 | IQSEC2 | c.944G>C (p.Ser315Thr) c.74G>C (p.Ser25Thr) c.785G>C (p.Ser262Thr) c.755G>C (p.Ser252Thr) c.170G>C (p.Ser57Thr) c.881G>C (p.Ser294Thr) c.107G>C (p.Ser36Thr) n.1108G>C c.287G>C (p.Ser96Thr) n.1102G>C | |
X | g.53256014C>T | CA413172216 | IQSEC2 | c.944G>A (p.Ser315Asn) c.74G>A (p.Ser25Asn) c.785G>A (p.Ser262Asn) c.755G>A (p.Ser252Asn) c.170G>A (p.Ser57Asn) c.881G>A (p.Ser294Asn) c.107G>A (p.Ser36Asn) n.1108G>A c.287G>A (p.Ser96Asn) n.1102G>A | |
X | g.53256015T>A | CA413172222 | IQSEC2 | c.943A>T (p.Ser315Cys) c.73A>T (p.Ser25Cys) c.784A>T (p.Ser262Cys) c.754A>T (p.Ser252Cys) c.169A>T (p.Ser57Cys) c.880A>T (p.Ser294Cys) c.106A>T (p.Ser36Cys) n.1107A>T c.286A>T (p.Ser96Cys) n.1101A>T | |
X | g.53256015T>C | CA413172225 | IQSEC2 | c.943A>G (p.Ser315Gly) c.73A>G (p.Ser25Gly) c.784A>G (p.Ser262Gly) c.754A>G (p.Ser252Gly) c.169A>G (p.Ser57Gly) c.880A>G (p.Ser294Gly) c.106A>G (p.Ser36Gly) n.1107A>G c.286A>G (p.Ser96Gly) n.1101A>G | gnomAD v4 |
X | g.53256015T>G | CA413172228 | IQSEC2 | c.943A>C (p.Ser315Arg) c.73A>C (p.Ser25Arg) c.784A>C (p.Ser262Arg) c.754A>C (p.Ser252Arg) c.169A>C (p.Ser57Arg) c.880A>C (p.Ser294Arg) c.106A>C (p.Ser36Arg) n.1107A>C c.286A>C (p.Ser96Arg) n.1101A>C | |
X | g.53256016A>C | CA413172231 | IQSEC2 | c.942T>G (p.Asp314Glu) c.72T>G (p.Asp24Glu) c.783T>G (p.Asp261Glu) c.753T>G (p.Asp251Glu) c.168T>G (p.Asp56Glu) c.879T>G (p.Asp293Glu) c.105T>G (p.Asp35Glu) n.1106T>G c.285T>G (p.Asp95Glu) n.1100T>G | |
X | g.53256016A>G | CA516674608 | IQSEC2 | c.942T>C (p.Asp314=) c.72T>C (p.Asp24=) c.783T>C (p.Asp261=) c.753T>C (p.Asp251=) c.168T>C (p.Asp56=) c.879T>C (p.Asp293=) c.105T>C (p.Asp35=) n.1106T>C c.285T>C (p.Asp95=) n.1100T>C | |
X | g.53256016A>T | CA413172232 | IQSEC2 | c.942T>A (p.Asp314Glu) c.72T>A (p.Asp24Glu) c.783T>A (p.Asp261Glu) c.753T>A (p.Asp251Glu) c.168T>A (p.Asp56Glu) c.879T>A (p.Asp293Glu) c.105T>A (p.Asp35Glu) n.1106T>A c.285T>A (p.Asp95Glu) n.1100T>A | |
X | g.53256017T>A | CA413172237 | IQSEC2 | c.941A>T (p.Asp314Val) c.71A>T (p.Asp24Val) c.782A>T (p.Asp261Val) c.752A>T (p.Asp251Val) c.167A>T (p.Asp56Val) c.878A>T (p.Asp293Val) c.104A>T (p.Asp35Val) n.1105A>T c.284A>T (p.Asp95Val) n.1099A>T | |
X | g.53256017T>C | CA413172239 | IQSEC2 | c.941A>G (p.Asp314Gly) c.71A>G (p.Asp24Gly) c.782A>G (p.Asp261Gly) c.752A>G (p.Asp251Gly) c.167A>G (p.Asp56Gly) c.878A>G (p.Asp293Gly) c.104A>G (p.Asp35Gly) n.1105A>G c.284A>G (p.Asp95Gly) n.1099A>G | gnomAD v4 |
X | g.53256017T>G | CA413172242 | IQSEC2 | c.941A>C (p.Asp314Ala) c.71A>C (p.Asp24Ala) c.782A>C (p.Asp261Ala) c.752A>C (p.Asp251Ala) c.167A>C (p.Asp56Ala) c.878A>C (p.Asp293Ala) c.104A>C (p.Asp35Ala) n.1105A>C c.284A>C (p.Asp95Ala) n.1099A>C | |
X | g.53256018C>A | CA413172245 | IQSEC2 | c.940G>T (p.Asp314Tyr) c.70G>T (p.Asp24Tyr) c.781G>T (p.Asp261Tyr) c.751G>T (p.Asp251Tyr) c.166G>T (p.Asp56Tyr) c.877G>T (p.Asp293Tyr) c.103G>T (p.Asp35Tyr) n.1104G>T c.283G>T (p.Asp95Tyr) n.1098G>T | |
X | g.53256018C= | CA2429777226 | IQSEC2 | c.940G= (p.Asp314=) c.70G= (p.Asp24=) c.781G= (p.Asp261=) c.751G= (p.Asp251=) c.166G= (p.Asp56=) c.877G= (p.Asp293=) c.103G= (p.Asp35=) n.1104G= c.283G= (p.Asp95=) n.1098G= | |
X | g.53256018C>G | CA10420145 | IQSEC2 | c.940G>C (p.Asp314His) c.70G>C (p.Asp24His) c.781G>C (p.Asp261His) c.751G>C (p.Asp251His) c.166G>C (p.Asp56His) c.877G>C (p.Asp293His) c.103G>C (p.Asp35His) n.1104G>C c.283G>C (p.Asp95His) n.1098G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53256018C>T | CA413172250 | IQSEC2 | c.940G>A (p.Asp314Asn) c.70G>A (p.Asp24Asn) c.781G>A (p.Asp261Asn) c.751G>A (p.Asp251Asn) c.166G>A (p.Asp56Asn) c.877G>A (p.Asp293Asn) c.103G>A (p.Asp35Asn) n.1104G>A c.283G>A (p.Asp95Asn) n.1098G>A | gnomAD v4 |
X | g.53256019A>C | CA516674609 | IQSEC2 | c.939T>G (p.Val313=) c.69T>G (p.Val23=) c.780T>G (p.Val260=) c.750T>G (p.Val250=) c.165T>G (p.Val55=) c.876T>G (p.Val292=) c.102T>G (p.Val34=) n.1103T>G c.282T>G (p.Val94=) n.1097T>G | |
X | g.53256019A>G | CA516674610 | IQSEC2 | c.939T>C (p.Val313=) c.69T>C (p.Val23=) c.780T>C (p.Val260=) c.750T>C (p.Val250=) c.165T>C (p.Val55=) c.876T>C (p.Val292=) c.102T>C (p.Val34=) n.1103T>C c.282T>C (p.Val94=) n.1097T>C | |
X | g.53256019A>T | CA516674611 | IQSEC2 | c.939T>A (p.Val313=) c.69T>A (p.Val23=) c.780T>A (p.Val260=) c.750T>A (p.Val250=) c.165T>A (p.Val55=) c.876T>A (p.Val292=) c.102T>A (p.Val34=) n.1103T>A c.282T>A (p.Val94=) n.1097T>A | |
X | g.53256020A>C | CA413172254 | IQSEC2 | c.938T>G (p.Val313Gly) c.68T>G (p.Val23Gly) c.779T>G (p.Val260Gly) c.749T>G (p.Val250Gly) c.164T>G (p.Val55Gly) c.875T>G (p.Val292Gly) c.101T>G (p.Val34Gly) n.1102T>G c.281T>G (p.Val94Gly) n.1096T>G | |
X | g.53256020A>G | CA413172257 | IQSEC2 | c.938T>C (p.Val313Ala) c.68T>C (p.Val23Ala) c.779T>C (p.Val260Ala) c.749T>C (p.Val250Ala) c.164T>C (p.Val55Ala) c.875T>C (p.Val292Ala) c.101T>C (p.Val34Ala) n.1102T>C c.281T>C (p.Val94Ala) n.1096T>C | |
X | g.53256020A>T | CA413172260 | IQSEC2 | c.938T>A (p.Val313Asp) c.68T>A (p.Val23Asp) c.779T>A (p.Val260Asp) c.749T>A (p.Val250Asp) c.164T>A (p.Val55Asp) c.875T>A (p.Val292Asp) c.101T>A (p.Val34Asp) n.1102T>A c.281T>A (p.Val94Asp) n.1096T>A | |
X | g.53256021C>A | CA413172267 | IQSEC2 | c.937G>T (p.Val313Phe) c.67G>T (p.Val23Phe) c.778G>T (p.Val260Phe) c.748G>T (p.Val250Phe) c.163G>T (p.Val55Phe) c.874G>T (p.Val292Phe) c.100G>T (p.Val34Phe) n.1101G>T c.280G>T (p.Val94Phe) n.1095G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53256021C= | CA2429777227 | IQSEC2 | c.937G= (p.Val313=) c.67G= (p.Val23=) c.778G= (p.Val260=) c.748G= (p.Val250=) c.163G= (p.Val55=) c.874G= (p.Val292=) c.100G= (p.Val34=) n.1101G= c.280G= (p.Val94=) n.1095G= | |
X | g.53256021C>G | CA413172265 | IQSEC2 | c.937G>C (p.Val313Leu) c.67G>C (p.Val23Leu) c.778G>C (p.Val260Leu) c.748G>C (p.Val250Leu) c.163G>C (p.Val55Leu) c.874G>C (p.Val292Leu) c.100G>C (p.Val34Leu) n.1101G>C c.280G>C (p.Val94Leu) n.1095G>C | |
X | g.53256021C>T | CA413172263 | IQSEC2 | c.937G>A (p.Val313Ile) c.67G>A (p.Val23Ile) c.778G>A (p.Val260Ile) c.748G>A (p.Val250Ile) c.163G>A (p.Val55Ile) c.874G>A (p.Val292Ile) c.100G>A (p.Val34Ile) n.1101G>A c.280G>A (p.Val94Ile) n.1095G>A | ClinVar dbSNP |
X | g.53256022C>A | CA516674612 | IQSEC2 | c.936G>T (p.Ala312=) c.66G>T (p.Ala22=) c.777G>T (p.Ala259=) c.747G>T (p.Ala249=) c.162G>T (p.Ala54=) c.873G>T (p.Ala291=) c.99G>T (p.Ala33=) n.1100G>T c.279G>T (p.Ala93=) n.1094G>T | |
X | g.53256022C= | CA2429777228 | IQSEC2 | c.936G= (p.Ala312=) c.66G= (p.Ala22=) c.777G= (p.Ala259=) c.747G= (p.Ala249=) c.162G= (p.Ala54=) c.873G= (p.Ala291=) c.99G= (p.Ala33=) n.1100G= c.279G= (p.Ala93=) n.1094G= | |
X | g.53256022C>G | CA516674613 | IQSEC2 | c.936G>C (p.Ala312=) c.66G>C (p.Ala22=) c.777G>C (p.Ala259=) c.747G>C (p.Ala249=) c.162G>C (p.Ala54=) c.873G>C (p.Ala291=) c.99G>C (p.Ala33=) n.1100G>C c.279G>C (p.Ala93=) n.1094G>C | |
X | g.53256022C>T | CA329167452 | IQSEC2 | c.936G>A (p.Ala312=) c.66G>A (p.Ala22=) c.777G>A (p.Ala259=) c.747G>A (p.Ala249=) c.162G>A (p.Ala54=) c.873G>A (p.Ala291=) c.99G>A (p.Ala33=) n.1100G>A c.279G>A (p.Ala93=) n.1094G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256023G>A | CA10420146 | IQSEC2 | c.935C>T (p.Ala312Val) c.65C>T (p.Ala22Val) c.776C>T (p.Ala259Val) c.746C>T (p.Ala249Val) c.161C>T (p.Ala54Val) c.872C>T (p.Ala291Val) c.98C>T (p.Ala33Val) n.1099C>T c.278C>T (p.Ala93Val) n.1093C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53256023G>C | CA413172271 | IQSEC2 | c.935C>G (p.Ala312Gly) c.65C>G (p.Ala22Gly) c.776C>G (p.Ala259Gly) c.746C>G (p.Ala249Gly) c.161C>G (p.Ala54Gly) c.872C>G (p.Ala291Gly) c.98C>G (p.Ala33Gly) n.1099C>G c.278C>G (p.Ala93Gly) n.1093C>G | |
X | g.53256023G= | CA2429777229 | IQSEC2 | c.935C= (p.Ala312=) c.65C= (p.Ala22=) c.776C= (p.Ala259=) c.746C= (p.Ala249=) c.161C= (p.Ala54=) c.872C= (p.Ala291=) c.98C= (p.Ala33=) n.1099C= c.278C= (p.Ala93=) n.1093C= | |
X | g.53256023G>T | CA413172274 | IQSEC2 | c.935C>A (p.Ala312Glu) c.65C>A (p.Ala22Glu) c.776C>A (p.Ala259Glu) c.746C>A (p.Ala249Glu) c.161C>A (p.Ala54Glu) c.872C>A (p.Ala291Glu) c.98C>A (p.Ala33Glu) n.1099C>A c.278C>A (p.Ala93Glu) n.1093C>A | gnomAD v4 |
X | g.53256024C>A | CA413172277 | IQSEC2 | c.934G>T (p.Ala312Ser) c.64G>T (p.Ala22Ser) c.775G>T (p.Ala259Ser) c.745G>T (p.Ala249Ser) c.160G>T (p.Ala54Ser) c.871G>T (p.Ala291Ser) c.97G>T (p.Ala33Ser) n.1098G>T c.277G>T (p.Ala93Ser) n.1092G>T | gnomAD v4 |
X | g.53256024C>G | CA413172279 | IQSEC2 | c.934G>C (p.Ala312Pro) c.64G>C (p.Ala22Pro) c.775G>C (p.Ala259Pro) c.745G>C (p.Ala249Pro) c.160G>C (p.Ala54Pro) c.871G>C (p.Ala291Pro) c.97G>C (p.Ala33Pro) n.1098G>C c.277G>C (p.Ala93Pro) n.1092G>C | |
X | g.53256024C>T | CA413172282 | IQSEC2 | c.934G>A (p.Ala312Thr) c.64G>A (p.Ala22Thr) c.775G>A (p.Ala259Thr) c.745G>A (p.Ala249Thr) c.160G>A (p.Ala54Thr) c.871G>A (p.Ala291Thr) c.97G>A (p.Ala33Thr) n.1098G>A c.277G>A (p.Ala93Thr) n.1092G>A | ClinVar dbSNP |
X | g.53256025T>A | CA516674614 | IQSEC2 | c.933A>T (p.Thr311=) c.63A>T (p.Thr21=) c.774A>T (p.Thr258=) c.744A>T (p.Thr248=) c.159A>T (p.Thr53=) c.870A>T (p.Thr290=) c.96A>T (p.Thr32=) n.1097A>T c.276A>T (p.Thr92=) n.1091A>T | |
X | g.53256025T>C | CA516674615 | IQSEC2 | c.933A>G (p.Thr311=) c.63A>G (p.Thr21=) c.774A>G (p.Thr258=) c.744A>G (p.Thr248=) c.159A>G (p.Thr53=) c.870A>G (p.Thr290=) c.96A>G (p.Thr32=) n.1097A>G c.276A>G (p.Thr92=) n.1091A>G | |
X | g.53256025T>G | CA516674616 | IQSEC2 | c.933A>C (p.Thr311=) c.63A>C (p.Thr21=) c.774A>C (p.Thr258=) c.744A>C (p.Thr248=) c.159A>C (p.Thr53=) c.870A>C (p.Thr290=) c.96A>C (p.Thr32=) n.1097A>C c.276A>C (p.Thr92=) n.1091A>C | |
X | g.53256026G>A | CA413172285 | IQSEC2 | c.932C>T (p.Thr311Ile) c.62C>T (p.Thr21Ile) c.773C>T (p.Thr258Ile) c.743C>T (p.Thr248Ile) c.158C>T (p.Thr53Ile) c.869C>T (p.Thr290Ile) c.95C>T (p.Thr32Ile) n.1096C>T c.275C>T (p.Thr92Ile) n.1090C>T | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53256026G>C | CA413172288 | IQSEC2 | c.932C>G (p.Thr311Arg) c.62C>G (p.Thr21Arg) c.773C>G (p.Thr258Arg) c.743C>G (p.Thr248Arg) c.158C>G (p.Thr53Arg) c.869C>G (p.Thr290Arg) c.95C>G (p.Thr32Arg) n.1096C>G c.275C>G (p.Thr92Arg) n.1090C>G | |
X | g.53256026G= | CA2429777230 | IQSEC2 | c.932C= (p.Thr311=) c.62C= (p.Thr21=) c.773C= (p.Thr258=) c.743C= (p.Thr248=) c.158C= (p.Thr53=) c.869C= (p.Thr290=) c.95C= (p.Thr32=) n.1096C= c.275C= (p.Thr92=) n.1090C= | |
X | g.53256026G>T | CA413172289 | IQSEC2 | c.932C>A (p.Thr311Lys) c.62C>A (p.Thr21Lys) c.773C>A (p.Thr258Lys) c.743C>A (p.Thr248Lys) c.158C>A (p.Thr53Lys) c.869C>A (p.Thr290Lys) c.95C>A (p.Thr32Lys) n.1096C>A c.275C>A (p.Thr92Lys) n.1090C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53256027T>A | CA413172292 | IQSEC2 | c.931A>T (p.Thr311Ser) c.61A>T (p.Thr21Ser) c.772A>T (p.Thr258Ser) c.742A>T (p.Thr248Ser) c.157A>T (p.Thr53Ser) c.868A>T (p.Thr290Ser) c.94A>T (p.Thr32Ser) n.1095A>T c.274A>T (p.Thr92Ser) n.1089A>T | |
X | g.53256027T>C | CA10420147 | IQSEC2 | c.931A>G (p.Thr311Ala) c.61A>G (p.Thr21Ala) c.772A>G (p.Thr258Ala) c.742A>G (p.Thr248Ala) c.157A>G (p.Thr53Ala) c.868A>G (p.Thr290Ala) c.94A>G (p.Thr32Ala) n.1095A>G c.274A>G (p.Thr92Ala) n.1089A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256027T>G | CA413172296 | IQSEC2 | c.931A>C (p.Thr311Pro) c.61A>C (p.Thr21Pro) c.772A>C (p.Thr258Pro) c.742A>C (p.Thr248Pro) c.157A>C (p.Thr53Pro) c.868A>C (p.Thr290Pro) c.94A>C (p.Thr32Pro) n.1095A>C c.274A>C (p.Thr92Pro) n.1089A>C | |
X | g.53256027T= | CA2429777231 | IQSEC2 | c.931A= (p.Thr311=) c.61A= (p.Thr21=) c.772A= (p.Thr258=) c.742A= (p.Thr248=) c.157A= (p.Thr53=) c.868A= (p.Thr290=) c.94A= (p.Thr32=) n.1095A= c.274A= (p.Thr92=) n.1089A= | |
X | g.53256028G>A | CA516674617 | IQSEC2 | c.930C>T (p.Ser310=) c.60C>T (p.Ser20=) c.771C>T (p.Ser257=) c.741C>T (p.Ser247=) c.156C>T (p.Ser52=) c.867C>T (p.Ser289=) c.93C>T (p.Ser31=) n.1094C>T c.273C>T (p.Ser91=) n.1088C>T | gnomAD v4 |
X | g.53256028G>C | CA413172304 | IQSEC2 | c.930C>G (p.Ser310Arg) c.60C>G (p.Ser20Arg) c.771C>G (p.Ser257Arg) c.741C>G (p.Ser247Arg) c.156C>G (p.Ser52Arg) c.867C>G (p.Ser289Arg) c.93C>G (p.Ser31Arg) n.1094C>G c.273C>G (p.Ser91Arg) n.1088C>G | |
X | g.53256028G= | CA2429777232 | IQSEC2 | c.930C= (p.Ser310=) c.60C= (p.Ser20=) c.771C= (p.Ser257=) c.741C= (p.Ser247=) c.156C= (p.Ser52=) c.867C= (p.Ser289=) c.93C= (p.Ser31=) n.1094C= c.273C= (p.Ser91=) n.1088C= | |
X | g.53256028G>T | CA413172306 | IQSEC2 | c.930C>A (p.Ser310Arg) c.60C>A (p.Ser20Arg) c.771C>A (p.Ser257Arg) c.741C>A (p.Ser247Arg) c.156C>A (p.Ser52Arg) c.867C>A (p.Ser289Arg) c.93C>A (p.Ser31Arg) n.1094C>A c.273C>A (p.Ser91Arg) n.1088C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53256029C>A | CA413172311 | IQSEC2 | c.929G>T (p.Ser310Ile) c.59G>T (p.Ser20Ile) c.770G>T (p.Ser257Ile) c.740G>T (p.Ser247Ile) c.155G>T (p.Ser52Ile) c.866G>T (p.Ser289Ile) c.92G>T (p.Ser31Ile) n.1093G>T c.272G>T (p.Ser91Ile) n.1087G>T | gnomAD v4 |
X | g.53256029C= | CA2429777233 | IQSEC2 | c.929G= (p.Ser310=) c.59G= (p.Ser20=) c.770G= (p.Ser257=) c.740G= (p.Ser247=) c.155G= (p.Ser52=) c.866G= (p.Ser289=) c.92G= (p.Ser31=) n.1093G= c.272G= (p.Ser91=) n.1087G= | |
X | g.53256029C>G | CA413172314 | IQSEC2 | c.929G>C (p.Ser310Thr) c.59G>C (p.Ser20Thr) c.770G>C (p.Ser257Thr) c.740G>C (p.Ser247Thr) c.155G>C (p.Ser52Thr) c.866G>C (p.Ser289Thr) c.92G>C (p.Ser31Thr) n.1093G>C c.272G>C (p.Ser91Thr) n.1087G>C | |
X | g.53256029C>T | CA413172310 | IQSEC2 | c.929G>A (p.Ser310Asn) c.59G>A (p.Ser20Asn) c.770G>A (p.Ser257Asn) c.740G>A (p.Ser247Asn) c.155G>A (p.Ser52Asn) c.866G>A (p.Ser289Asn) c.92G>A (p.Ser31Asn) n.1093G>A c.272G>A (p.Ser91Asn) n.1087G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256030T>A | CA413172317 | IQSEC2 | c.928A>T (p.Ser310Cys) c.58A>T (p.Ser20Cys) c.769A>T (p.Ser257Cys) c.739A>T (p.Ser247Cys) c.154A>T (p.Ser52Cys) c.865A>T (p.Ser289Cys) c.91A>T (p.Ser31Cys) n.1092A>T c.271A>T (p.Ser91Cys) n.1086A>T | |
X | g.53256030T>C | CA413172319 | IQSEC2 | c.928A>G (p.Ser310Gly) c.58A>G (p.Ser20Gly) c.769A>G (p.Ser257Gly) c.739A>G (p.Ser247Gly) c.154A>G (p.Ser52Gly) c.865A>G (p.Ser289Gly) c.91A>G (p.Ser31Gly) n.1092A>G c.271A>G (p.Ser91Gly) n.1086A>G | gnomAD v4 |
X | g.53256030T>G | CA413172322 | IQSEC2 | c.928A>C (p.Ser310Arg) c.58A>C (p.Ser20Arg) c.769A>C (p.Ser257Arg) c.739A>C (p.Ser247Arg) c.154A>C (p.Ser52Arg) c.865A>C (p.Ser289Arg) c.91A>C (p.Ser31Arg) n.1092A>C c.271A>C (p.Ser91Arg) n.1086A>C | |
X | g.53256031C>A | CA516674618 | IQSEC2 | c.927G>T (p.Leu309=) c.57G>T (p.Leu19=) c.768G>T (p.Leu256=) c.738G>T (p.Leu246=) c.153G>T (p.Leu51=) c.864G>T (p.Leu288=) c.90G>T (p.Leu30=) n.1091G>T c.270G>T (p.Leu90=) n.1085G>T | |
X | g.53256031C>G | CA516674620 | IQSEC2 | c.927G>C (p.Leu309=) c.57G>C (p.Leu19=) c.768G>C (p.Leu256=) c.738G>C (p.Leu246=) c.153G>C (p.Leu51=) c.864G>C (p.Leu288=) c.90G>C (p.Leu30=) n.1091G>C c.270G>C (p.Leu90=) n.1085G>C | |
X | g.53256031C>T | CA516674619 | IQSEC2 | c.927G>A (p.Leu309=) c.57G>A (p.Leu19=) c.768G>A (p.Leu256=) c.738G>A (p.Leu246=) c.153G>A (p.Leu51=) c.864G>A (p.Leu288=) c.90G>A (p.Leu30=) n.1091G>A c.270G>A (p.Leu90=) n.1085G>A | gnomAD v4 |
X | g.53256032A>C | CA413172325 | IQSEC2 | c.926T>G (p.Leu309Arg) c.56T>G (p.Leu19Arg) c.767T>G (p.Leu256Arg) c.737T>G (p.Leu246Arg) c.152T>G (p.Leu51Arg) c.863T>G (p.Leu288Arg) c.89T>G (p.Leu30Arg) n.1090T>G c.269T>G (p.Leu90Arg) n.1084T>G | |
X | g.53256032A>G | CA413172328 | IQSEC2 | c.926T>C (p.Leu309Pro) c.56T>C (p.Leu19Pro) c.767T>C (p.Leu256Pro) c.737T>C (p.Leu246Pro) c.152T>C (p.Leu51Pro) c.863T>C (p.Leu288Pro) c.89T>C (p.Leu30Pro) n.1090T>C c.269T>C (p.Leu90Pro) n.1084T>C | gnomAD v4 |
X | g.53256032A>T | CA413172331 | IQSEC2 | c.926T>A (p.Leu309Gln) c.56T>A (p.Leu19Gln) c.767T>A (p.Leu256Gln) c.737T>A (p.Leu246Gln) c.152T>A (p.Leu51Gln) c.863T>A (p.Leu288Gln) c.89T>A (p.Leu30Gln) n.1090T>A c.269T>A (p.Leu90Gln) n.1084T>A | |
X | g.53256033G>A | CA10420148 | IQSEC2 | c.925C>T (p.Leu309=) c.55C>T (p.Leu19=) c.766C>T (p.Leu256=) c.736C>T (p.Leu246=) c.151C>T (p.Leu51=) c.862C>T (p.Leu288=) c.88C>T (p.Leu30=) n.1089C>T c.268C>T (p.Leu90=) n.1083C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256033G>C | CA413172333 | IQSEC2 | c.925C>G (p.Leu309Val) c.55C>G (p.Leu19Val) c.766C>G (p.Leu256Val) c.736C>G (p.Leu246Val) c.151C>G (p.Leu51Val) c.862C>G (p.Leu288Val) c.88C>G (p.Leu30Val) n.1089C>G c.268C>G (p.Leu90Val) n.1083C>G | |
X | g.53256033G= | CA2429777234 | IQSEC2 | c.925C= (p.Leu309=) c.55C= (p.Leu19=) c.766C= (p.Leu256=) c.736C= (p.Leu246=) c.151C= (p.Leu51=) c.862C= (p.Leu288=) c.88C= (p.Leu30=) n.1089C= c.268C= (p.Leu90=) n.1083C= | |
X | g.53256033G>T | CA413172335 | IQSEC2 | c.925C>A (p.Leu309Met) c.55C>A (p.Leu19Met) c.766C>A (p.Leu256Met) c.736C>A (p.Leu246Met) c.151C>A (p.Leu51Met) c.862C>A (p.Leu288Met) c.88C>A (p.Leu30Met) n.1089C>A c.268C>A (p.Leu90Met) n.1083C>A | gnomAD v4 |
X | g.53256034del | CA2579615041 | IQSEC2 | c.925del (p.Leu309Ter) c.55del (p.Leu19Ter) c.766del (p.Leu256Ter) c.736del (p.Leu246Ter) c.151del (p.Leu51Ter) c.862del (p.Leu288Ter) c.88del (p.Leu30Ter) n.1089del c.268del (p.Leu90Ter) n.1083del | |
X | g.53256034G>A | CA516674621 | IQSEC2 | c.924C>T (p.Asp308=) c.54C>T (p.Asp18=) c.765C>T (p.Asp255=) c.735C>T (p.Asp245=) c.150C>T (p.Asp50=) c.861C>T (p.Asp287=) c.87C>T (p.Asp29=) n.1088C>T c.267C>T (p.Asp89=) n.1082C>T | ClinVar |
X | g.53256034G>C | CA413172341 | IQSEC2 | c.924C>G (p.Asp308Glu) c.54C>G (p.Asp18Glu) c.765C>G (p.Asp255Glu) c.735C>G (p.Asp245Glu) c.150C>G (p.Asp50Glu) c.861C>G (p.Asp287Glu) c.87C>G (p.Asp29Glu) n.1088C>G c.267C>G (p.Asp89Glu) n.1082C>G | |
X | g.53256034G>T | CA413172343 | IQSEC2 | c.924C>A (p.Asp308Glu) c.54C>A (p.Asp18Glu) c.765C>A (p.Asp255Glu) c.735C>A (p.Asp245Glu) c.150C>A (p.Asp50Glu) c.861C>A (p.Asp287Glu) c.87C>A (p.Asp29Glu) n.1088C>A c.267C>A (p.Asp89Glu) n.1082C>A | ClinVar |
X | g.53256035T>A | CA413172353 | IQSEC2 | c.923A>T (p.Asp308Val) c.53A>T (p.Asp18Val) c.764A>T (p.Asp255Val) c.734A>T (p.Asp245Val) c.149A>T (p.Asp50Val) c.860A>T (p.Asp287Val) c.86A>T (p.Asp29Val) n.1087A>T c.266A>T (p.Asp89Val) n.1081A>T | |
X | g.53256035T>C | CA413172355 | IQSEC2 | c.923A>G (p.Asp308Gly) c.53A>G (p.Asp18Gly) c.764A>G (p.Asp255Gly) c.734A>G (p.Asp245Gly) c.149A>G (p.Asp50Gly) c.860A>G (p.Asp287Gly) c.86A>G (p.Asp29Gly) n.1087A>G c.266A>G (p.Asp89Gly) n.1081A>G | |
X | g.53256035T>G | CA413172359 | IQSEC2 | c.923A>C (p.Asp308Ala) c.53A>C (p.Asp18Ala) c.764A>C (p.Asp255Ala) c.734A>C (p.Asp245Ala) c.149A>C (p.Asp50Ala) c.860A>C (p.Asp287Ala) c.86A>C (p.Asp29Ala) n.1087A>C c.266A>C (p.Asp89Ala) n.1081A>C | |
X | g.53256036C>A | CA413172361 | IQSEC2 | c.922G>T (p.Asp308Tyr) c.52G>T (p.Asp18Tyr) c.763G>T (p.Asp255Tyr) c.733G>T (p.Asp245Tyr) c.148G>T (p.Asp50Tyr) c.859G>T (p.Asp287Tyr) c.85G>T (p.Asp29Tyr) n.1086G>T c.265G>T (p.Asp89Tyr) n.1080G>T | gnomAD v4 |
X | g.53256036C>G | CA413172364 | IQSEC2 | c.922G>C (p.Asp308His) c.52G>C (p.Asp18His) c.763G>C (p.Asp255His) c.733G>C (p.Asp245His) c.148G>C (p.Asp50His) c.859G>C (p.Asp287His) c.85G>C (p.Asp29His) n.1086G>C c.265G>C (p.Asp89His) n.1080G>C | |
X | g.53256036C>T | CA413172362 | IQSEC2 | c.922G>A (p.Asp308Asn) c.52G>A (p.Asp18Asn) c.763G>A (p.Asp255Asn) c.733G>A (p.Asp245Asn) c.148G>A (p.Asp50Asn) c.859G>A (p.Asp287Asn) c.85G>A (p.Asp29Asn) n.1086G>A c.265G>A (p.Asp89Asn) n.1080G>A | |
X | g.53256037A= | CA2429777235 | IQSEC2 | c.921T= (p.Ser307=) c.51T= (p.Ser17=) c.762T= (p.Ser254=) c.732T= (p.Ser244=) c.147T= (p.Ser49=) c.858T= (p.Ser286=) c.84T= (p.Ser28=) n.1085T= c.264T= (p.Ser88=) n.1079T= | |
X | g.53256037A>C | CA413172367 | IQSEC2 | c.921T>G (p.Ser307Arg) c.51T>G (p.Ser17Arg) c.762T>G (p.Ser254Arg) c.732T>G (p.Ser244Arg) c.147T>G (p.Ser49Arg) c.858T>G (p.Ser286Arg) c.84T>G (p.Ser28Arg) n.1085T>G c.264T>G (p.Ser88Arg) n.1079T>G | |
X | g.53256037A>G | CA516674622 | IQSEC2 | c.921T>C (p.Ser307=) c.51T>C (p.Ser17=) c.762T>C (p.Ser254=) c.732T>C (p.Ser244=) c.147T>C (p.Ser49=) c.858T>C (p.Ser286=) c.84T>C (p.Ser28=) n.1085T>C c.264T>C (p.Ser88=) n.1079T>C | dbSNP |
X | g.53256037A>T | CA413172369 | IQSEC2 | c.921T>A (p.Ser307Arg) c.51T>A (p.Ser17Arg) c.762T>A (p.Ser254Arg) c.732T>A (p.Ser244Arg) c.147T>A (p.Ser49Arg) c.858T>A (p.Ser286Arg) c.84T>A (p.Ser28Arg) n.1085T>A c.264T>A (p.Ser88Arg) n.1079T>A | |
X | g.53256038C>A | CA413172373 | IQSEC2 | c.920G>T (p.Ser307Ile) c.50G>T (p.Ser17Ile) c.761G>T (p.Ser254Ile) c.731G>T (p.Ser244Ile) c.146G>T (p.Ser49Ile) c.857G>T (p.Ser286Ile) c.83G>T (p.Ser28Ile) n.1084G>T c.263G>T (p.Ser88Ile) n.1078G>T | gnomAD v4 |
X | g.53256038C>G | CA413172375 | IQSEC2 | c.920G>C (p.Ser307Thr) c.50G>C (p.Ser17Thr) c.761G>C (p.Ser254Thr) c.731G>C (p.Ser244Thr) c.146G>C (p.Ser49Thr) c.857G>C (p.Ser286Thr) c.83G>C (p.Ser28Thr) n.1084G>C c.263G>C (p.Ser88Thr) n.1078G>C | |
X | g.53256038C>T | CA413172378 | IQSEC2 | c.920G>A (p.Ser307Asn) c.50G>A (p.Ser17Asn) c.761G>A (p.Ser254Asn) c.731G>A (p.Ser244Asn) c.146G>A (p.Ser49Asn) c.857G>A (p.Ser286Asn) c.83G>A (p.Ser28Asn) n.1084G>A c.263G>A (p.Ser88Asn) n.1078G>A | gnomAD v4 |
X | g.53256039T>A | CA413172382 | IQSEC2 | c.919A>T (p.Ser307Cys) c.49A>T (p.Ser17Cys) c.760A>T (p.Ser254Cys) c.730A>T (p.Ser244Cys) c.145A>T (p.Ser49Cys) c.856A>T (p.Ser286Cys) c.82A>T (p.Ser28Cys) n.1083A>T c.262A>T (p.Ser88Cys) n.1077A>T | |
X | g.53256039T>C | CA413172385 | IQSEC2 | c.919A>G (p.Ser307Gly) c.49A>G (p.Ser17Gly) c.760A>G (p.Ser254Gly) c.730A>G (p.Ser244Gly) c.145A>G (p.Ser49Gly) c.856A>G (p.Ser286Gly) c.82A>G (p.Ser28Gly) n.1083A>G c.262A>G (p.Ser88Gly) n.1077A>G | |
X | g.53256039T>G | CA413172386 | IQSEC2 | c.919A>C (p.Ser307Arg) c.49A>C (p.Ser17Arg) c.760A>C (p.Ser254Arg) c.730A>C (p.Ser244Arg) c.145A>C (p.Ser49Arg) c.856A>C (p.Ser286Arg) c.82A>C (p.Ser28Arg) n.1083A>C c.262A>C (p.Ser88Arg) n.1077A>C | |
X | g.53256040G>A | CA516674623 | IQSEC2 | c.918C>T (p.Gly306=) c.48C>T (p.Gly16=) c.759C>T (p.Gly253=) c.729C>T (p.Gly243=) c.144C>T (p.Gly48=) c.855C>T (p.Gly285=) c.81C>T (p.Gly27=) n.1082C>T c.261C>T (p.Gly87=) n.1076C>T | |
X | g.53256040G>C | CA516674624 | IQSEC2 | c.918C>G (p.Gly306=) c.48C>G (p.Gly16=) c.759C>G (p.Gly253=) c.729C>G (p.Gly243=) c.144C>G (p.Gly48=) c.855C>G (p.Gly285=) c.81C>G (p.Gly27=) n.1082C>G c.261C>G (p.Gly87=) n.1076C>G | |
X | g.53256040G>T | CA516674625 | IQSEC2 | c.918C>A (p.Gly306=) c.48C>A (p.Gly16=) c.759C>A (p.Gly253=) c.729C>A (p.Gly243=) c.144C>A (p.Gly48=) c.855C>A (p.Gly285=) c.81C>A (p.Gly27=) n.1082C>A c.261C>A (p.Gly87=) n.1076C>A | gnomAD v4 |
X | g.53256041C>A | CA413172390 | IQSEC2 | c.917G>T (p.Gly306Val) c.47G>T (p.Gly16Val) c.758G>T (p.Gly253Val) c.728G>T (p.Gly243Val) c.143G>T (p.Gly48Val) c.854G>T (p.Gly285Val) c.80G>T (p.Gly27Val) n.1081G>T c.260G>T (p.Gly87Val) n.1075G>T | gnomAD v4 |
X | g.53256041C>G | CA413172392 | IQSEC2 | c.917G>C (p.Gly306Ala) c.47G>C (p.Gly16Ala) c.758G>C (p.Gly253Ala) c.728G>C (p.Gly243Ala) c.143G>C (p.Gly48Ala) c.854G>C (p.Gly285Ala) c.80G>C (p.Gly27Ala) n.1081G>C c.260G>C (p.Gly87Ala) n.1075G>C | |
X | g.53256041C>T | CA413172396 | IQSEC2 | c.917G>A (p.Gly306Asp) c.47G>A (p.Gly16Asp) c.758G>A (p.Gly253Asp) c.728G>A (p.Gly243Asp) c.143G>A (p.Gly48Asp) c.854G>A (p.Gly285Asp) c.80G>A (p.Gly27Asp) n.1081G>A c.260G>A (p.Gly87Asp) n.1075G>A | gnomAD v4 |
X | g.53256042C>A | CA413172400 | IQSEC2 | c.916G>T (p.Gly306Cys) c.46G>T (p.Gly16Cys) c.757G>T (p.Gly253Cys) c.727G>T (p.Gly243Cys) c.142G>T (p.Gly48Cys) c.853G>T (p.Gly285Cys) c.79G>T (p.Gly27Cys) n.1080G>T c.259G>T (p.Gly87Cys) n.1074G>T | |
X | g.53256042C>G | CA413172404 | IQSEC2 | c.916G>C (p.Gly306Arg) c.46G>C (p.Gly16Arg) c.757G>C (p.Gly253Arg) c.727G>C (p.Gly243Arg) c.142G>C (p.Gly48Arg) c.853G>C (p.Gly285Arg) c.79G>C (p.Gly27Arg) n.1080G>C c.259G>C (p.Gly87Arg) n.1074G>C | gnomAD v4 |
X | g.53256042C>T | CA413172402 | IQSEC2 | c.916G>A (p.Gly306Ser) c.46G>A (p.Gly16Ser) c.757G>A (p.Gly253Ser) c.727G>A (p.Gly243Ser) c.142G>A (p.Gly48Ser) c.853G>A (p.Gly285Ser) c.79G>A (p.Gly27Ser) n.1080G>A c.259G>A (p.Gly87Ser) n.1074G>A | gnomAD v4 |
X | g.53256043T>A | CA516674626 | IQSEC2 | c.915A>T (p.Pro305=) c.45A>T (p.Pro15=) c.756A>T (p.Pro252=) c.726A>T (p.Pro242=) c.141A>T (p.Pro47=) c.852A>T (p.Pro284=) c.78A>T (p.Pro26=) n.1079A>T c.258A>T (p.Pro86=) n.1073A>T | |
X | g.53256043T>C | CA516674628 | IQSEC2 | c.915A>G (p.Pro305=) c.45A>G (p.Pro15=) c.756A>G (p.Pro252=) c.726A>G (p.Pro242=) c.141A>G (p.Pro47=) c.852A>G (p.Pro284=) c.78A>G (p.Pro26=) n.1079A>G c.258A>G (p.Pro86=) n.1073A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256043T>G | CA516674627 | IQSEC2 | c.915A>C (p.Pro305=) c.45A>C (p.Pro15=) c.756A>C (p.Pro252=) c.726A>C (p.Pro242=) c.141A>C (p.Pro47=) c.852A>C (p.Pro284=) c.78A>C (p.Pro26=) n.1079A>C c.258A>C (p.Pro86=) n.1073A>C | |
X | g.53256043T= | CA2429777236 | IQSEC2 | c.915A= (p.Pro305=) c.45A= (p.Pro15=) c.756A= (p.Pro252=) c.726A= (p.Pro242=) c.141A= (p.Pro47=) c.852A= (p.Pro284=) c.78A= (p.Pro26=) n.1079A= c.258A= (p.Pro86=) n.1073A= | |
X | g.53256044G>A | CA413172407 | IQSEC2 | c.914C>T (p.Pro305Leu) c.44C>T (p.Pro15Leu) c.755C>T (p.Pro252Leu) c.725C>T (p.Pro242Leu) c.140C>T (p.Pro47Leu) c.851C>T (p.Pro284Leu) c.77C>T (p.Pro26Leu) n.1078C>T c.257C>T (p.Pro86Leu) n.1072C>T | |
X | g.53256044G>C | CA413172408 | IQSEC2 | c.914C>G (p.Pro305Arg) c.44C>G (p.Pro15Arg) c.755C>G (p.Pro252Arg) c.725C>G (p.Pro242Arg) c.140C>G (p.Pro47Arg) c.851C>G (p.Pro284Arg) c.77C>G (p.Pro26Arg) n.1078C>G c.257C>G (p.Pro86Arg) n.1072C>G | |
X | g.53256044G>T | CA413172410 | IQSEC2 | c.914C>A (p.Pro305Gln) c.44C>A (p.Pro15Gln) c.755C>A (p.Pro252Gln) c.725C>A (p.Pro242Gln) c.140C>A (p.Pro47Gln) c.851C>A (p.Pro284Gln) c.77C>A (p.Pro26Gln) n.1078C>A c.257C>A (p.Pro86Gln) n.1072C>A | |
X | g.53256047del | CA2523324195 | IQSEC2 | c.914del (p.Pro305GlnfsTer5) c.44del (p.Pro15GlnfsTer5) c.755del (p.Pro252GlnfsTer5) c.725del (p.Pro242GlnfsTer5) c.140del (p.Pro47GlnfsTer5) c.851del (p.Pro284GlnfsTer5) c.77del (p.Pro26GlnfsTer5) n.1078del c.257del (p.Pro86GlnfsTer5) n.1072del | |
X | g.53256045G>A | CA413172412 | IQSEC2 | c.913C>T (p.Pro305Ser) c.43C>T (p.Pro15Ser) c.754C>T (p.Pro252Ser) c.724C>T (p.Pro242Ser) c.139C>T (p.Pro47Ser) c.850C>T (p.Pro284Ser) c.76C>T (p.Pro26Ser) n.1077C>T c.256C>T (p.Pro86Ser) n.1071C>T | gnomAD v4 |
X | g.53256045G>C | CA413172415 | IQSEC2 | c.913C>G (p.Pro305Ala) c.43C>G (p.Pro15Ala) c.754C>G (p.Pro252Ala) c.724C>G (p.Pro242Ala) c.139C>G (p.Pro47Ala) c.850C>G (p.Pro284Ala) c.76C>G (p.Pro26Ala) n.1077C>G c.256C>G (p.Pro86Ala) n.1071C>G | |
X | g.53256045G>T | CA413172417 | IQSEC2 | c.913C>A (p.Pro305Thr) c.43C>A (p.Pro15Thr) c.754C>A (p.Pro252Thr) c.724C>A (p.Pro242Thr) c.139C>A (p.Pro47Thr) c.850C>A (p.Pro284Thr) c.76C>A (p.Pro26Thr) n.1077C>A c.256C>A (p.Pro86Thr) n.1071C>A | gnomAD v4 |
X | g.53256046G>A | CA516674629 | IQSEC2 | c.912C>T (p.Ala304=) c.42C>T (p.Ala14=) c.753C>T (p.Ala251=) c.723C>T (p.Ala241=) c.138C>T (p.Ala46=) c.849C>T (p.Ala283=) c.75C>T (p.Ala25=) n.1076C>T c.255C>T (p.Ala85=) n.1070C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53256046G>C | CA516674630 | IQSEC2 | c.912C>G (p.Ala304=) c.42C>G (p.Ala14=) c.753C>G (p.Ala251=) c.723C>G (p.Ala241=) c.138C>G (p.Ala46=) c.849C>G (p.Ala283=) c.75C>G (p.Ala25=) n.1076C>G c.255C>G (p.Ala85=) n.1070C>G | |
X | g.53256046G= | CA2429777237 | IQSEC2 | c.912C= (p.Ala304=) c.42C= (p.Ala14=) c.753C= (p.Ala251=) c.723C= (p.Ala241=) c.138C= (p.Ala46=) c.849C= (p.Ala283=) c.75C= (p.Ala25=) n.1076C= c.255C= (p.Ala85=) n.1070C= | |
X | g.53256046G>T | CA516674631 | IQSEC2 | c.912C>A (p.Ala304=) c.42C>A (p.Ala14=) c.753C>A (p.Ala251=) c.723C>A (p.Ala241=) c.138C>A (p.Ala46=) c.849C>A (p.Ala283=) c.75C>A (p.Ala25=) n.1076C>A c.255C>A (p.Ala85=) n.1070C>A | gnomAD v4 |
X | g.53256047G>A | CA413172426 | IQSEC2 | c.911C>T (p.Ala304Val) c.41C>T (p.Ala14Val) c.752C>T (p.Ala251Val) c.722C>T (p.Ala241Val) c.137C>T (p.Ala46Val) c.848C>T (p.Ala283Val) c.74C>T (p.Ala25Val) n.1075C>T c.254C>T (p.Ala85Val) n.1069C>T | gnomAD v4 |
X | g.53256047G>C | CA413172423 | IQSEC2 | c.911C>G (p.Ala304Gly) c.41C>G (p.Ala14Gly) c.752C>G (p.Ala251Gly) c.722C>G (p.Ala241Gly) c.137C>G (p.Ala46Gly) c.848C>G (p.Ala283Gly) c.74C>G (p.Ala25Gly) n.1075C>G c.254C>G (p.Ala85Gly) n.1069C>G | |
X | g.53256047G>T | CA413172420 | IQSEC2 | c.911C>A (p.Ala304Asp) c.41C>A (p.Ala14Asp) c.752C>A (p.Ala251Asp) c.722C>A (p.Ala241Asp) c.137C>A (p.Ala46Asp) c.848C>A (p.Ala283Asp) c.74C>A (p.Ala25Asp) n.1075C>A c.254C>A (p.Ala85Asp) n.1069C>A | gnomAD v4 |
X | g.53256048C>A | CA413172429 | IQSEC2 | c.910G>T (p.Ala304Ser) c.40G>T (p.Ala14Ser) c.751G>T (p.Ala251Ser) c.721G>T (p.Ala241Ser) c.136G>T (p.Ala46Ser) c.847G>T (p.Ala283Ser) c.73G>T (p.Ala25Ser) n.1074G>T c.253G>T (p.Ala85Ser) n.1068G>T | gnomAD v4 |
X | g.53256048C>G | CA413172432 | IQSEC2 | c.910G>C (p.Ala304Pro) c.40G>C (p.Ala14Pro) c.751G>C (p.Ala251Pro) c.721G>C (p.Ala241Pro) c.136G>C (p.Ala46Pro) c.847G>C (p.Ala283Pro) c.73G>C (p.Ala25Pro) n.1074G>C c.253G>C (p.Ala85Pro) n.1068G>C | |
X | g.53256048C>T | CA413172434 | IQSEC2 | c.910G>A (p.Ala304Thr) c.40G>A (p.Ala14Thr) c.751G>A (p.Ala251Thr) c.721G>A (p.Ala241Thr) c.136G>A (p.Ala46Thr) c.847G>A (p.Ala283Thr) c.73G>A (p.Ala25Thr) n.1074G>A c.253G>A (p.Ala85Thr) n.1068G>A | |
X | g.53256049A= | CA2429777238 | IQSEC2 | c.909T= (p.Asp303=) c.39T= (p.Asp13=) c.750T= (p.Asp250=) c.720T= (p.Asp240=) c.135T= (p.Asp45=) c.846T= (p.Asp282=) c.72T= (p.Asp24=) n.1073T= c.252T= (p.Asp84=) n.1067T= | |
X | g.53256049A>C | CA413172437 | IQSEC2 | c.909T>G (p.Asp303Glu) c.39T>G (p.Asp13Glu) c.750T>G (p.Asp250Glu) c.720T>G (p.Asp240Glu) c.135T>G (p.Asp45Glu) c.846T>G (p.Asp282Glu) c.72T>G (p.Asp24Glu) n.1073T>G c.252T>G (p.Asp84Glu) n.1067T>G | |
X | g.53256049A>G | CA10420149 | IQSEC2 | c.909T>C (p.Asp303=) c.39T>C (p.Asp13=) c.750T>C (p.Asp250=) c.720T>C (p.Asp240=) c.135T>C (p.Asp45=) c.846T>C (p.Asp282=) c.72T>C (p.Asp24=) n.1073T>C c.252T>C (p.Asp84=) n.1067T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53256049A>T | CA413172440 | IQSEC2 | c.909T>A (p.Asp303Glu) c.39T>A (p.Asp13Glu) c.750T>A (p.Asp250Glu) c.720T>A (p.Asp240Glu) c.135T>A (p.Asp45Glu) c.846T>A (p.Asp282Glu) c.72T>A (p.Asp24Glu) n.1073T>A c.252T>A (p.Asp84Glu) n.1067T>A | |
X | g.53256050T>A | CA413172444 | IQSEC2 | c.908A>T (p.Asp303Val) c.38A>T (p.Asp13Val) c.749A>T (p.Asp250Val) c.719A>T (p.Asp240Val) c.134A>T (p.Asp45Val) c.845A>T (p.Asp282Val) c.71A>T (p.Asp24Val) n.1072A>T c.251A>T (p.Asp84Val) n.1066A>T | |
X | g.53256050T>C | CA413172451 | IQSEC2 | c.908A>G (p.Asp303Gly) c.38A>G (p.Asp13Gly) c.749A>G (p.Asp250Gly) c.719A>G (p.Asp240Gly) c.134A>G (p.Asp45Gly) c.845A>G (p.Asp282Gly) c.71A>G (p.Asp24Gly) n.1072A>G c.251A>G (p.Asp84Gly) n.1066A>G | |
X | g.53256050T>G | CA413172446 | IQSEC2 | c.908A>C (p.Asp303Ala) c.38A>C (p.Asp13Ala) c.749A>C (p.Asp250Ala) c.719A>C (p.Asp240Ala) c.134A>C (p.Asp45Ala) c.845A>C (p.Asp282Ala) c.71A>C (p.Asp24Ala) n.1072A>C c.251A>C (p.Asp84Ala) n.1066A>C | |
X | g.53256051C>A | CA413172454 | IQSEC2 | c.907G>T (p.Asp303Tyr) c.37G>T (p.Asp13Tyr) c.748G>T (p.Asp250Tyr) c.718G>T (p.Asp240Tyr) c.133G>T (p.Asp45Tyr) c.844G>T (p.Asp282Tyr) c.70G>T (p.Asp24Tyr) n.1071G>T c.250G>T (p.Asp84Tyr) n.1065G>T | gnomAD v4 |
X | g.53256051C>G | CA413172457 | IQSEC2 | c.907G>C (p.Asp303His) c.37G>C (p.Asp13His) c.748G>C (p.Asp250His) c.718G>C (p.Asp240His) c.133G>C (p.Asp45His) c.844G>C (p.Asp282His) c.70G>C (p.Asp24His) n.1071G>C c.250G>C (p.Asp84His) n.1065G>C | |
X | g.53256051C>T | CA413172460 | IQSEC2 | c.907G>A (p.Asp303Asn) c.37G>A (p.Asp13Asn) c.748G>A (p.Asp250Asn) c.718G>A (p.Asp240Asn) c.133G>A (p.Asp45Asn) c.844G>A (p.Asp282Asn) c.70G>A (p.Asp24Asn) n.1071G>A c.250G>A (p.Asp84Asn) n.1065G>A | |
X | g.53256052A>C | CA516674632 | IQSEC2 | c.906T>G (p.Gly302=) c.36T>G (p.Gly12=) c.747T>G (p.Gly249=) c.717T>G (p.Gly239=) c.132T>G (p.Gly44=) c.843T>G (p.Gly281=) c.69T>G (p.Gly23=) n.1070T>G c.249T>G (p.Gly83=) n.1064T>G | |
X | g.53256052A>G | CA516674633 | IQSEC2 | c.906T>C (p.Gly302=) c.36T>C (p.Gly12=) c.747T>C (p.Gly249=) c.717T>C (p.Gly239=) c.132T>C (p.Gly44=) c.843T>C (p.Gly281=) c.69T>C (p.Gly23=) n.1070T>C c.249T>C (p.Gly83=) n.1064T>C | gnomAD v4 |
X | g.53256052A>T | CA516674634 | IQSEC2 | c.906T>A (p.Gly302=) c.36T>A (p.Gly12=) c.747T>A (p.Gly249=) c.717T>A (p.Gly239=) c.132T>A (p.Gly44=) c.843T>A (p.Gly281=) c.69T>A (p.Gly23=) n.1070T>A c.249T>A (p.Gly83=) n.1064T>A | |
X | g.53256053C>A | CA413172461 | IQSEC2 | c.905G>T (p.Gly302Val) c.35G>T (p.Gly12Val) c.746G>T (p.Gly249Val) c.716G>T (p.Gly239Val) c.131G>T (p.Gly44Val) c.842G>T (p.Gly281Val) c.68G>T (p.Gly23Val) n.1069G>T c.248G>T (p.Gly83Val) n.1063G>T | gnomAD v4 |
X | g.53256053C= | CA2429777239 | IQSEC2 | c.905G= (p.Gly302=) c.35G= (p.Gly12=) c.746G= (p.Gly249=) c.716G= (p.Gly239=) c.131G= (p.Gly44=) c.842G= (p.Gly281=) c.68G= (p.Gly23=) n.1069G= c.248G= (p.Gly83=) n.1063G= | |
X | g.53256053C>G | CA413172464 | IQSEC2 | c.905G>C (p.Gly302Ala) c.35G>C (p.Gly12Ala) c.746G>C (p.Gly249Ala) c.716G>C (p.Gly239Ala) c.131G>C (p.Gly44Ala) c.842G>C (p.Gly281Ala) c.68G>C (p.Gly23Ala) n.1069G>C c.248G>C (p.Gly83Ala) n.1063G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53256053C>T | CA413172466 | IQSEC2 | c.905G>A (p.Gly302Asp) c.35G>A (p.Gly12Asp) c.746G>A (p.Gly249Asp) c.716G>A (p.Gly239Asp) c.131G>A (p.Gly44Asp) c.842G>A (p.Gly281Asp) c.68G>A (p.Gly23Asp) n.1069G>A c.248G>A (p.Gly83Asp) n.1063G>A |