Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2777990C>A | CA379139641 | KCNQ1 | c.1390C>A (p.Arg464Ser) c.1207C>A (p.Arg403Ser) c.1747C>A (p.Arg583Ser) c.1366C>A (p.Arg456Ser) c.151C>A (p.Arg51Ser) c.853C>A (p.Arg285Ser) n.254C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2777990C= | CA1948315093 | KCNQ1 | c.1390C= (p.Arg464=) c.1207C= (p.Arg403=) c.1747C= (p.Arg583=) c.1366C= (p.Arg456=) c.151C= (p.Arg51=) c.853C= (p.Arg285=) n.254C= | |
11 | g.2777990C>G | CA379139643 | KCNQ1 | c.1390C>G (p.Arg464Gly) c.1207C>G (p.Arg403Gly) c.1747C>G (p.Arg583Gly) c.1366C>G (p.Arg456Gly) c.151C>G (p.Arg51Gly) c.853C>G (p.Arg285Gly) n.254C>G | |
11 | g.2777990C>T | CA006297 | KCNQ1 | c.1390C>T (p.Arg464Cys) c.1207C>T (p.Arg403Cys) c.1747C>T (p.Arg583Cys) c.1366C>T (p.Arg456Cys) c.151C>T (p.Arg51Cys) c.853C>T (p.Arg285Cys) n.254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777991G>A | CA006304 | KCNQ1 | c.1391G>A (p.Arg464His) c.1208G>A (p.Arg403His) c.1748G>A (p.Arg583His) c.1367G>A (p.Arg456His) c.152G>A (p.Arg51His) c.854G>A (p.Arg285His) n.255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777991G>C | CA379139646 | KCNQ1 | c.1391G>C (p.Arg464Pro) c.1208G>C (p.Arg403Pro) c.1748G>C (p.Arg583Pro) c.1367G>C (p.Arg456Pro) c.152G>C (p.Arg51Pro) c.854G>C (p.Arg285Pro) n.255G>C | dbSNP |
11 | g.2777991G= | CA1948315094 | KCNQ1 | c.1391G= (p.Arg464=) c.1208G= (p.Arg403=) c.1748G= (p.Arg583=) c.1367G= (p.Arg456=) c.152G= (p.Arg51=) c.854G= (p.Arg285=) n.255G= | |
11 | g.2777991G>T | CA379139648 | KCNQ1 | c.1391G>T (p.Arg464Leu) c.1208G>T (p.Arg403Leu) c.1748G>T (p.Arg583Leu) c.1367G>T (p.Arg456Leu) c.152G>T (p.Arg51Leu) c.854G>T (p.Arg285Leu) n.255G>T | |
11 | g.2777992C>A | CA472465541 | KCNQ1 | c.1392C>A (p.Arg464=) c.1209C>A (p.Arg403=) c.1749C>A (p.Arg583=) c.1368C>A (p.Arg456=) c.153C>A (p.Arg51=) c.855C>A (p.Arg285=) n.256C>A | |
11 | g.2777992C= | CA1948315095 | KCNQ1 | c.1392C= (p.Arg464=) c.1209C= (p.Arg403=) c.1749C= (p.Arg583=) c.1368C= (p.Arg456=) c.153C= (p.Arg51=) c.855C= (p.Arg285=) n.256C= | |
11 | g.2777992C>G | CA472465542 | KCNQ1 | c.1392C>G (p.Arg464=) c.1209C>G (p.Arg403=) c.1749C>G (p.Arg583=) c.1368C>G (p.Arg456=) c.153C>G (p.Arg51=) c.855C>G (p.Arg285=) n.256C>G | |
11 | g.2777992C>T | CA006310 | KCNQ1 | c.1392C>T (p.Arg464=) c.1209C>T (p.Arg403=) c.1749C>T (p.Arg583=) c.1368C>T (p.Arg456=) c.153C>T (p.Arg51=) c.855C>T (p.Arg285=) n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777993G>A | CA006316 | KCNQ1 | c.1393G>A (p.Gly465Ser) c.1210G>A (p.Gly404Ser) c.1750G>A (p.Gly584Ser) c.1369G>A (p.Gly457Ser) c.154G>A (p.Gly52Ser) c.856G>A (p.Gly286Ser) n.257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777993G>C | CA379139652 | KCNQ1 | c.1393G>C (p.Gly465Arg) c.1210G>C (p.Gly404Arg) c.1750G>C (p.Gly584Arg) c.1369G>C (p.Gly457Arg) c.154G>C (p.Gly52Arg) c.856G>C (p.Gly286Arg) n.257G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2777993G= | CA1948315096 | KCNQ1 | c.1393G= (p.Gly465=) c.1210G= (p.Gly404=) c.1750G= (p.Gly584=) c.1369G= (p.Gly457=) c.154G= (p.Gly52=) c.856G= (p.Gly286=) n.257G= | |
11 | g.2777993G>T | CA379139654 | KCNQ1 | c.1393G>T (p.Gly465Cys) c.1210G>T (p.Gly404Cys) c.1750G>T (p.Gly584Cys) c.1369G>T (p.Gly457Cys) c.154G>T (p.Gly52Cys) c.856G>T (p.Gly286Cys) n.257G>T | |
11 | g.2777993_2777996delinsGGCA | CA1948315097 | KCNQ1 | c.1393_1396delinsGGCA (p.Gly465=) c.1210_1213delinsGGCA (p.Gly404=) c.1750_1753delinsGGCA (p.Gly584=) c.1369_1372delinsGGCA (p.Gly457=) c.154_157delinsGGCA (p.Gly52=) c.856_859delinsGGCA (p.Gly286=) n.257_260delinsGGCA | |
11 | g.2777994G>A | CA379139661 | KCNQ1 | c.1394G>A (p.Gly465Asp) c.1211G>A (p.Gly404Asp) c.1751G>A (p.Gly584Asp) c.1370G>A (p.Gly457Asp) c.155G>A (p.Gly52Asp) c.857G>A (p.Gly286Asp) n.258G>A | |
11 | g.2777994G>C | CA379139659 | KCNQ1 | c.1394G>C (p.Gly465Ala) c.1211G>C (p.Gly404Ala) c.1751G>C (p.Gly584Ala) c.1370G>C (p.Gly457Ala) c.155G>C (p.Gly52Ala) c.857G>C (p.Gly286Ala) n.258G>C | |
11 | g.2777994G>T | CA379139657 | KCNQ1 | c.1394G>T (p.Gly465Val) c.1211G>T (p.Gly404Val) c.1751G>T (p.Gly584Val) c.1370G>T (p.Gly457Val) c.155G>T (p.Gly52Val) c.857G>T (p.Gly286Val) n.258G>T | gnomAD v4 |
11 | g.2777997_2777999del | CA1948315098 | KCNQ1 | c.1397_1399del (p.Ser466del) c.1214_1216del (p.Ser405del) c.1754_1756del (p.Ser585del) c.1373_1375del (p.Ser458del) c.158_160del (p.Ser53del) c.860_862del (p.Ser287del) n.261_263del | dbSNP |
11 | g.2777995C>A | CA472465551 | KCNQ1 | c.1395C>A (p.Gly465=) c.1212C>A (p.Gly404=) c.1752C>A (p.Gly584=) c.1371C>A (p.Gly457=) c.156C>A (p.Gly52=) c.858C>A (p.Gly286=) n.259C>A | |
11 | g.2777995C>G | CA472465553 | KCNQ1 | c.1395C>G (p.Gly465=) c.1212C>G (p.Gly404=) c.1752C>G (p.Gly584=) c.1371C>G (p.Gly457=) c.156C>G (p.Gly52=) c.858C>G (p.Gly286=) n.259C>G | |
11 | g.2777995C>T | CA472465550 | KCNQ1 | c.1395C>T (p.Gly465=) c.1212C>T (p.Gly404=) c.1752C>T (p.Gly584=) c.1371C>T (p.Gly457=) c.156C>T (p.Gly52=) c.858C>T (p.Gly286=) n.259C>T | |
11 | g.2777996A>C | CA379139668 | KCNQ1 | c.1396A>C (p.Ser466Arg) c.1213A>C (p.Ser405Arg) c.1753A>C (p.Ser585Arg) c.1372A>C (p.Ser458Arg) c.157A>C (p.Ser53Arg) c.859A>C (p.Ser287Arg) n.260A>C | |
11 | g.2777996A>G | CA379139664 | KCNQ1 | c.1396A>G (p.Ser466Gly) c.1213A>G (p.Ser405Gly) c.1753A>G (p.Ser585Gly) c.1372A>G (p.Ser458Gly) c.157A>G (p.Ser53Gly) c.859A>G (p.Ser287Gly) n.260A>G | |
11 | g.2777996A>T | CA379139665 | KCNQ1 | c.1396A>T (p.Ser466Cys) c.1213A>T (p.Ser405Cys) c.1753A>T (p.Ser585Cys) c.1372A>T (p.Ser458Cys) c.157A>T (p.Ser53Cys) c.859A>T (p.Ser287Cys) n.260A>T | |
11 | g.2777997G>A | CA032645 | KCNQ1 | c.1397G>A (p.Ser466Asn) c.1214G>A (p.Ser405Asn) c.1754G>A (p.Ser585Asn) c.1373G>A (p.Ser458Asn) c.158G>A (p.Ser53Asn) c.860G>A (p.Ser287Asn) n.261G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777997G>C | CA379139671 | KCNQ1 | c.1397G>C (p.Ser466Thr) c.1214G>C (p.Ser405Thr) c.1754G>C (p.Ser585Thr) c.1373G>C (p.Ser458Thr) c.158G>C (p.Ser53Thr) c.860G>C (p.Ser287Thr) n.261G>C | |
11 | g.2777997G= | CA1948315099 | KCNQ1 | c.1397G= (p.Ser466=) c.1214G= (p.Ser405=) c.1754G= (p.Ser585=) c.1373G= (p.Ser458=) c.158G= (p.Ser53=) c.860G= (p.Ser287=) n.261G= | |
11 | g.2777997G>T | CA379139673 | KCNQ1 | c.1397G>T (p.Ser466Ile) c.1214G>T (p.Ser405Ile) c.1754G>T (p.Ser585Ile) c.1373G>T (p.Ser458Ile) c.158G>T (p.Ser53Ile) c.860G>T (p.Ser287Ile) n.261G>T | |
11 | g.2777998C>A | CA379139676 | KCNQ1 | c.1398C>A (p.Ser466Arg) c.1215C>A (p.Ser405Arg) c.1755C>A (p.Ser585Arg) c.1374C>A (p.Ser458Arg) c.159C>A (p.Ser53Arg) c.861C>A (p.Ser287Arg) n.262C>A | |
11 | g.2777998C= | CA1948315100 | KCNQ1 | c.1398C= (p.Ser466=) c.1215C= (p.Ser405=) c.1755C= (p.Ser585=) c.1374C= (p.Ser458=) c.159C= (p.Ser53=) c.861C= (p.Ser287=) n.262C= | |
11 | g.2777998C>G | CA379139677 | KCNQ1 | c.1398C>G (p.Ser466Arg) c.1215C>G (p.Ser405Arg) c.1755C>G (p.Ser585Arg) c.1374C>G (p.Ser458Arg) c.159C>G (p.Ser53Arg) c.861C>G (p.Ser287Arg) n.262C>G | ClinVar dbSNP |
11 | g.2777998C>T | CA472465561 | KCNQ1 | c.1398C>T (p.Ser466=) c.1215C>T (p.Ser405=) c.1755C>T (p.Ser585=) c.1374C>T (p.Ser458=) c.159C>T (p.Ser53=) c.861C>T (p.Ser287=) n.262C>T | |
11 | g.2777999A= | CA1948315101 | KCNQ1 | c.1399A= (p.Asn467=) c.1216A= (p.Asn406=) c.1756A= (p.Asn586=) c.1375A= (p.Asn459=) c.160A= (p.Asn54=) c.862A= (p.Asn288=) n.263A= | |
11 | g.2777999A>C | CA379139681 | KCNQ1 | c.1399A>C (p.Asn467His) c.1216A>C (p.Asn406His) c.1756A>C (p.Asn586His) c.1375A>C (p.Asn459His) c.160A>C (p.Asn54His) c.862A>C (p.Asn288His) n.263A>C | |
11 | g.2777999A>G | CA006321 | KCNQ1 | c.1399A>G (p.Asn467Asp) c.1216A>G (p.Asn406Asp) c.1756A>G (p.Asn586Asp) c.1375A>G (p.Asn459Asp) c.160A>G (p.Asn54Asp) c.862A>G (p.Asn288Asp) n.263A>G | ClinVar dbSNP |
11 | g.2777999A>T | CA379139679 | KCNQ1 | c.1399A>T (p.Asn467Tyr) c.1216A>T (p.Asn406Tyr) c.1756A>T (p.Asn586Tyr) c.1375A>T (p.Asn459Tyr) c.160A>T (p.Asn54Tyr) c.862A>T (p.Asn288Tyr) n.263A>T | |
11 | g.2778000A= | CA1948315102 | KCNQ1 | c.1400A= (p.Asn467=) c.1217A= (p.Asn406=) c.1757A= (p.Asn586=) c.1376A= (p.Asn459=) c.161A= (p.Asn54=) c.863A= (p.Asn288=) n.264A= | |
11 | g.2778000A>C | CA379139683 | KCNQ1 | c.1400A>C (p.Asn467Thr) c.1217A>C (p.Asn406Thr) c.1757A>C (p.Asn586Thr) c.1376A>C (p.Asn459Thr) c.161A>C (p.Asn54Thr) c.863A>C (p.Asn288Thr) n.264A>C | |
11 | g.2778000A>G | CA379139685 | KCNQ1 | c.1400A>G (p.Asn467Ser) c.1217A>G (p.Asn406Ser) c.1757A>G (p.Asn586Ser) c.1376A>G (p.Asn459Ser) c.161A>G (p.Asn54Ser) c.863A>G (p.Asn288Ser) n.264A>G | dbSNP gnomAD v4 |
11 | g.2778000A>T | CA379139687 | KCNQ1 | c.1400A>T (p.Asn467Ile) c.1217A>T (p.Asn406Ile) c.1757A>T (p.Asn586Ile) c.1376A>T (p.Asn459Ile) c.161A>T (p.Asn54Ile) c.863A>T (p.Asn288Ile) n.264A>T | |
11 | g.2778001C>A | CA379139689 | KCNQ1 | c.1401C>A (p.Asn467Lys) c.1218C>A (p.Asn406Lys) c.1758C>A (p.Asn586Lys) c.1377C>A (p.Asn459Lys) c.162C>A (p.Asn54Lys) c.864C>A (p.Asn288Lys) n.265C>A | |
11 | g.2778001C>G | CA379139691 | KCNQ1 | c.1401C>G (p.Asn467Lys) c.1218C>G (p.Asn406Lys) c.1758C>G (p.Asn586Lys) c.1377C>G (p.Asn459Lys) c.162C>G (p.Asn54Lys) c.864C>G (p.Asn288Lys) n.265C>G | |
11 | g.2778001C>T | CA472465571 | KCNQ1 | c.1401C>T (p.Asn467=) c.1218C>T (p.Asn406=) c.1758C>T (p.Asn586=) c.1377C>T (p.Asn459=) c.162C>T (p.Asn54=) c.864C>T (p.Asn288=) n.265C>T | |
11 | g.2778002A>C | CA379139693 | KCNQ1 | c.1402A>C (p.Thr468Pro) c.1219A>C (p.Thr407Pro) c.1759A>C (p.Thr587Pro) c.1378A>C (p.Thr460Pro) c.163A>C (p.Thr55Pro) c.865A>C (p.Thr289Pro) n.266A>C | |
11 | g.2778002A>G | CA379139696 | KCNQ1 | c.1402A>G (p.Thr468Ala) c.1219A>G (p.Thr407Ala) c.1759A>G (p.Thr587Ala) c.1378A>G (p.Thr460Ala) c.163A>G (p.Thr55Ala) c.865A>G (p.Thr289Ala) n.266A>G | |
11 | g.2778002A>T | CA379139694 | KCNQ1 | c.1402A>T (p.Thr468Ser) c.1219A>T (p.Thr407Ser) c.1759A>T (p.Thr587Ser) c.1378A>T (p.Thr460Ser) c.163A>T (p.Thr55Ser) c.865A>T (p.Thr289Ser) n.266A>T | |
11 | g.2778003C>A | CA379139698 | KCNQ1 | c.1403C>A (p.Thr468Lys) c.1220C>A (p.Thr407Lys) c.1760C>A (p.Thr587Lys) c.1379C>A (p.Thr460Lys) c.164C>A (p.Thr55Lys) c.866C>A (p.Thr289Lys) n.267C>A |