Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2662001T>A | CA379479505 | KCNQ1,KCNQ1OT1 | c.1077T>A (p.His359Gln) c.894T>A (p.His298Gln) c.1434T>A (p.His478Gln) c.1053T>A (p.His351Gln) c.540T>A (p.His180Gln) n.37998A>T | |
11 | g.2662001T>C | CA472236286 | KCNQ1,KCNQ1OT1 | c.1077T>C (p.His359=) c.894T>C (p.His298=) c.1434T>C (p.His478=) c.1053T>C (p.His351=) c.540T>C (p.His180=) n.37998A>G | gnomAD v4 |
11 | g.2662001T>G | CA379479507 | KCNQ1,KCNQ1OT1 | c.1077T>G (p.His359Gln) c.894T>G (p.His298Gln) c.1434T>G (p.His478Gln) c.1053T>G (p.His351Gln) c.540T>G (p.His180Gln) n.37998A>C | |
11 | g.2662002T>A | CA379479509 | KCNQ1,KCNQ1OT1 | c.1078T>A (p.Phe360Ile) c.895T>A (p.Phe299Ile) c.1435T>A (p.Phe479Ile) c.1054T>A (p.Phe352Ile) c.541T>A (p.Phe181Ile) n.37997A>T | |
11 | g.2662002T>C | CA379479510 | KCNQ1,KCNQ1OT1 | c.1078T>C (p.Phe360Leu) c.895T>C (p.Phe299Leu) c.1435T>C (p.Phe479Leu) c.1054T>C (p.Phe352Leu) c.541T>C (p.Phe181Leu) n.37997A>G | gnomAD v4 |
11 | g.2662002T>G | CA379479511 | KCNQ1,KCNQ1OT1 | c.1078T>G (p.Phe360Val) c.895T>G (p.Phe299Val) c.1435T>G (p.Phe479Val) c.1054T>G (p.Phe352Val) c.541T>G (p.Phe181Val) n.37997A>C | |
11 | g.2662003T>A | CA379479513 | KCNQ1,KCNQ1OT1 | c.1079T>A (p.Phe360Tyr) c.896T>A (p.Phe299Tyr) c.1436T>A (p.Phe479Tyr) c.1055T>A (p.Phe352Tyr) c.542T>A (p.Phe181Tyr) n.37996A>T | ClinVar dbSNP |
11 | g.2662003T>C | CA379479515 | KCNQ1,KCNQ1OT1 | c.1079T>C (p.Phe360Ser) c.896T>C (p.Phe299Ser) c.1436T>C (p.Phe479Ser) c.1055T>C (p.Phe352Ser) c.542T>C (p.Phe181Ser) n.37996A>G | |
11 | g.2662003T>G | CA379479517 | KCNQ1,KCNQ1OT1 | c.1079T>G (p.Phe360Cys) c.896T>G (p.Phe299Cys) c.1436T>G (p.Phe479Cys) c.1055T>G (p.Phe352Cys) c.542T>G (p.Phe181Cys) n.37996A>C | |
11 | g.2662003T= | CA1948247677 | KCNQ1,KCNQ1OT1 | c.1079T= (p.Phe360=) c.896T= (p.Phe299=) c.1436T= (p.Phe479=) c.1055T= (p.Phe352=) c.542T= (p.Phe181=) n.37996A= | |
11 | g.2662004C>A | CA379479520 | KCNQ1,KCNQ1OT1 | c.1080C>A (p.Phe360Leu) c.897C>A (p.Phe299Leu) c.1437C>A (p.Phe479Leu) c.1056C>A (p.Phe352Leu) c.543C>A (p.Phe181Leu) n.37995G>T | ClinVar dbSNP gnomAD v4 |
11 | g.2662004C= | CA1948247683 | KCNQ1,KCNQ1OT1 | c.1080C= (p.Phe360=) c.897C= (p.Phe299=) c.1437C= (p.Phe479=) c.1056C= (p.Phe352=) c.543C= (p.Phe181=) n.37995G= | |
11 | g.2662004C>G | CA379479521 | KCNQ1,KCNQ1OT1 | c.1080C>G (p.Phe360Leu) c.897C>G (p.Phe299Leu) c.1437C>G (p.Phe479Leu) c.1056C>G (p.Phe352Leu) c.543C>G (p.Phe181Leu) n.37995G>C | ClinVar |
11 | g.2662004C>T | CA472236288 | KCNQ1,KCNQ1OT1 | c.1080C>T (p.Phe360=) c.897C>T (p.Phe299=) c.1437C>T (p.Phe479=) c.1056C>T (p.Phe352=) c.543C>T (p.Phe181=) n.37995G>A | gnomAD v4 |
11 | g.2662005A>C | CA379479526 | KCNQ1,KCNQ1OT1 | c.1081A>C (p.Met361Leu) c.898A>C (p.Met300Leu) c.1438A>C (p.Met480Leu) c.1057A>C (p.Met353Leu) c.544A>C (p.Met182Leu) n.37994T>G | |
11 | g.2662005A>G | CA379479528 | KCNQ1,KCNQ1OT1 | c.1081A>G (p.Met361Val) c.898A>G (p.Met300Val) c.1438A>G (p.Met480Val) c.1057A>G (p.Met353Val) c.544A>G (p.Met182Val) n.37994T>C | gnomAD v4 |
11 | g.2662005A>T | CA379479524 | KCNQ1,KCNQ1OT1 | c.1081A>T (p.Met361Leu) c.898A>T (p.Met300Leu) c.1438A>T (p.Met480Leu) c.1057A>T (p.Met353Leu) c.544A>T (p.Met182Leu) n.37994T>A | |
11 | g.2662006T>A | CA379479536 | KCNQ1,KCNQ1OT1 | c.1082T>A (p.Met361Lys) c.899T>A (p.Met300Lys) c.1439T>A (p.Met480Lys) c.1058T>A (p.Met353Lys) c.545T>A (p.Met182Lys) n.37993A>T | |
11 | g.2662006T>C | CA216170771 | KCNQ1,KCNQ1OT1 | c.1082T>C (p.Met361Thr) c.899T>C (p.Met300Thr) c.1439T>C (p.Met480Thr) c.1058T>C (p.Met353Thr) c.545T>C (p.Met182Thr) n.37993A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662006T>G | CA379479534 | KCNQ1,KCNQ1OT1 | c.1082T>G (p.Met361Arg) c.899T>G (p.Met300Arg) c.1439T>G (p.Met480Arg) c.1058T>G (p.Met353Arg) c.545T>G (p.Met182Arg) n.37993A>C | dbSNP gnomAD v4 |
11 | g.2662006T= | CA1948247689 | KCNQ1,KCNQ1OT1 | c.1082T= (p.Met361=) c.899T= (p.Met300=) c.1439T= (p.Met480=) c.1058T= (p.Met353=) c.545T= (p.Met182=) n.37993A= | |
11 | g.2662007G>A | CA379479539 | KCNQ1,KCNQ1OT1 | c.1083G>A (p.Met361Ile) c.900G>A (p.Met300Ile) c.1440G>A (p.Met480Ile) c.1059G>A (p.Met353Ile) c.546G>A (p.Met182Ile) n.37992C>T | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.2662007G>C | CA379479540 | KCNQ1,KCNQ1OT1 | c.1083G>C (p.Met361Ile) c.900G>C (p.Met300Ile) c.1440G>C (p.Met480Ile) c.1059G>C (p.Met353Ile) c.546G>C (p.Met182Ile) n.37992C>G | |
11 | g.2662007G= | CA1948247698 | KCNQ1,KCNQ1OT1 | c.1083G= (p.Met361=) c.900G= (p.Met300=) c.1440G= (p.Met480=) c.1059G= (p.Met353=) c.546G= (p.Met182=) n.37992C= | |
11 | g.2662007G>T | CA379479542 | KCNQ1,KCNQ1OT1 | c.1083G>T (p.Met361Ile) c.900G>T (p.Met300Ile) c.1440G>T (p.Met480Ile) c.1059G>T (p.Met353Ile) c.546G>T (p.Met182Ile) n.37992C>A | |
11 | g.2662010_2662028dup | CA1139661785 | KCNQ1,KCNQ1OT1 | c.1086_1104dup (p.Asp369AsnfsTer34) c.903_921dup (p.Asp308AsnfsTer34) c.1443_1461dup (p.Asp488AsnfsTer34) c.1062_1080dup (p.Asp361AsnfsTer34) c.549_567dup (p.Asp190AsnfsTer34) n.37974_37992dup | ClinVar dbSNP |
11 | g.2662008A>C | CA472236289 | KCNQ1,KCNQ1OT1 | c.1084A>C (p.Arg362=) c.901A>C (p.Arg301=) c.1441A>C (p.Arg481=) c.1060A>C (p.Arg354=) c.547A>C (p.Arg183=) n.37991T>G | |
11 | g.2662008A>G | CA379479543 | KCNQ1,KCNQ1OT1 | c.1084A>G (p.Arg362Gly) c.901A>G (p.Arg301Gly) c.1441A>G (p.Arg481Gly) c.1060A>G (p.Arg354Gly) c.547A>G (p.Arg183Gly) n.37991T>C | |
11 | g.2662008A>T | CA379479545 | KCNQ1,KCNQ1OT1 | c.1084A>T (p.Arg362Ter) c.901A>T (p.Arg301Ter) c.1441A>T (p.Arg481Ter) c.1060A>T (p.Arg354Ter) c.547A>T (p.Arg183Ter) n.37991T>A | |
11 | g.2662009G>A | CA379479546 | KCNQ1,KCNQ1OT1 | c.1085G>A (p.Arg362Lys) c.902G>A (p.Arg301Lys) c.1442G>A (p.Arg481Lys) c.1061G>A (p.Arg354Lys) c.548G>A (p.Arg183Lys) n.37990C>T | ClinVar dbSNP |
11 | g.2662009G>C | CA379479548 | KCNQ1,KCNQ1OT1 | c.1085G>C (p.Arg362Thr) c.902G>C (p.Arg301Thr) c.1442G>C (p.Arg481Thr) c.1061G>C (p.Arg354Thr) c.548G>C (p.Arg183Thr) n.37990C>G | dbSNP |
11 | g.2662009G= | CA1948247704 | KCNQ1,KCNQ1OT1 | c.1085G= (p.Arg362=) c.902G= (p.Arg301=) c.1442G= (p.Arg481=) c.1061G= (p.Arg354=) c.548G= (p.Arg183=) n.37990C= | |
11 | g.2662009G>T | CA379479550 | KCNQ1,KCNQ1OT1 | c.1085G>T (p.Arg362Ile) c.902G>T (p.Arg301Ile) c.1442G>T (p.Arg481Ile) c.1061G>T (p.Arg354Ile) c.548G>T (p.Arg183Ile) n.37990C>A | |
11 | g.2662010A= | CA1948247710 | KCNQ1,KCNQ1OT1 | c.1086A= (p.Arg362=) c.903A= (p.Arg301=) c.1443A= (p.Arg481=) c.1062A= (p.Arg354=) c.549A= (p.Arg183=) n.37989T= | |
11 | g.2662010A>C | CA379479552 | KCNQ1,KCNQ1OT1 | c.1086A>C (p.Arg362Ser) c.903A>C (p.Arg301Ser) c.1443A>C (p.Arg481Ser) c.1062A>C (p.Arg354Ser) c.549A>C (p.Arg183Ser) n.37989T>G | |
11 | g.2662010A>G | CA472236290 | KCNQ1,KCNQ1OT1 | c.1086A>G (p.Arg362=) c.903A>G (p.Arg301=) c.1443A>G (p.Arg481=) c.1062A>G (p.Arg354=) c.549A>G (p.Arg183=) n.37989T>C | ClinVar dbSNP |
11 | g.2662010A>T | CA379479553 | KCNQ1,KCNQ1OT1 | c.1086A>T (p.Arg362Ser) c.903A>T (p.Arg301Ser) c.1443A>T (p.Arg481Ser) c.1062A>T (p.Arg354Ser) c.549A>T (p.Arg183Ser) n.37989T>A | gnomAD v4 |
11 | g.2662011A= | CA1948247725 | KCNQ1,KCNQ1OT1 | c.1087A= (p.Thr363=) c.904A= (p.Thr302=) c.1444A= (p.Thr482=) c.1063A= (p.Thr355=) c.550A= (p.Thr184=) n.37988T= | |
11 | g.2662011A>C | CA379479556 | KCNQ1,KCNQ1OT1 | c.1087A>C (p.Thr363Pro) c.904A>C (p.Thr302Pro) c.1444A>C (p.Thr482Pro) c.1063A>C (p.Thr355Pro) c.550A>C (p.Thr184Pro) n.37988T>G | |
11 | g.2662011A>G | CA379479555 | KCNQ1,KCNQ1OT1 | c.1087A>G (p.Thr363Ala) c.904A>G (p.Thr302Ala) c.1444A>G (p.Thr482Ala) c.1063A>G (p.Thr355Ala) c.550A>G (p.Thr184Ala) n.37988T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662011A>T | CA379479554 | KCNQ1,KCNQ1OT1 | c.1087A>T (p.Thr363Ser) c.904A>T (p.Thr302Ser) c.1444A>T (p.Thr482Ser) c.1063A>T (p.Thr355Ser) c.550A>T (p.Thr184Ser) n.37988T>A | |
11 | g.2662011_2662012delinsAC | CA1948247724 | KCNQ1,KCNQ1OT1 | c.1087_1088delinsAC (p.Thr363=) c.904_905delinsAC (p.Thr302=) c.1444_1445delinsAC (p.Thr482=) c.1063_1064delinsAC (p.Thr355=) c.550_551delinsAC (p.Thr184=) n.37987_37988delinsGT | |
11 | g.2662012C>A | CA029931 | KCNQ1,KCNQ1OT1 | c.1088C>A (p.Thr363Asn) c.905C>A (p.Thr302Asn) c.1445C>A (p.Thr482Asn) c.1064C>A (p.Thr355Asn) c.551C>A (p.Thr184Asn) n.37987G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662012C= | CA1948247730 | KCNQ1,KCNQ1OT1 | c.1088C= (p.Thr363=) c.905C= (p.Thr302=) c.1445C= (p.Thr482=) c.1064C= (p.Thr355=) c.551C= (p.Thr184=) n.37987G= | |
11 | g.2662012C>G | CA379479558 | KCNQ1,KCNQ1OT1 | c.1088C>G (p.Thr363Ser) c.905C>G (p.Thr302Ser) c.1445C>G (p.Thr482Ser) c.1064C>G (p.Thr355Ser) c.551C>G (p.Thr184Ser) n.37987G>C | dbSNP gnomAD v2 |
11 | g.2662012C>T | CA379479561 | KCNQ1,KCNQ1OT1 | c.1088C>T (p.Thr363Ile) c.905C>T (p.Thr302Ile) c.1445C>T (p.Thr482Ile) c.1064C>T (p.Thr355Ile) c.551C>T (p.Thr184Ile) n.37987G>A | dbSNP |
11 | g.2662013del | CA005767 | KCNQ1,KCNQ1OT1 | c.1089del (p.Asn364ThrfsTer15) c.906del (p.Asn303ThrfsTer15) c.1446del (p.Asn483ThrfsTer15) c.1065del (p.Asn356ThrfsTer15) c.552del (p.Asn185ThrfsTer15) n.37987del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662013C>A | CA472236292 | KCNQ1,KCNQ1OT1 | c.1089C>A (p.Thr363=) c.906C>A (p.Thr302=) c.1446C>A (p.Thr482=) c.1065C>A (p.Thr355=) c.552C>A (p.Thr184=) n.37986G>T | dbSNP gnomAD v4 |
11 | g.2662013C= | CA1948247734 | KCNQ1,KCNQ1OT1 | c.1089C= (p.Thr363=) c.906C= (p.Thr302=) c.1446C= (p.Thr482=) c.1065C= (p.Thr355=) c.552C= (p.Thr184=) n.37986G= | |
11 | g.2662013C>G | CA472236291 | KCNQ1,KCNQ1OT1 | c.1089C>G (p.Thr363=) c.906C>G (p.Thr302=) c.1446C>G (p.Thr482=) c.1065C>G (p.Thr355=) c.552C>G (p.Thr184=) n.37986G>C | |
11 | g.2662013C>T | CA16613532 | KCNQ1,KCNQ1OT1 | c.1089C>T (p.Thr363=) c.906C>T (p.Thr302=) c.1446C>T (p.Thr482=) c.1065C>T (p.Thr355=) c.552C>T (p.Thr184=) n.37986G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662014A>C | CA379479562 | KCNQ1,KCNQ1OT1 | c.1090A>C (p.Asn364His) c.907A>C (p.Asn303His) c.1447A>C (p.Asn483His) c.1066A>C (p.Asn356His) c.553A>C (p.Asn185His) n.37985T>G | |
11 | g.2662014A>G | CA379479563 | KCNQ1,KCNQ1OT1 | c.1090A>G (p.Asn364Asp) c.907A>G (p.Asn303Asp) c.1447A>G (p.Asn483Asp) c.1066A>G (p.Asn356Asp) c.553A>G (p.Asn185Asp) n.37985T>C | |
11 | g.2662014A>T | CA379479564 | KCNQ1,KCNQ1OT1 | c.1090A>T (p.Asn364Tyr) c.907A>T (p.Asn303Tyr) c.1447A>T (p.Asn483Tyr) c.1066A>T (p.Asn356Tyr) c.553A>T (p.Asn185Tyr) n.37985T>A | |
11 | g.2662015A= | CA1948247736 | KCNQ1,KCNQ1OT1 | c.1091A= (p.Asn364=) c.908A= (p.Asn303=) c.1448A= (p.Asn483=) c.1067A= (p.Asn356=) c.554A= (p.Asn185=) n.37984T= | |
11 | g.2662015A>C | CA379479565 | KCNQ1,KCNQ1OT1 | c.1091A>C (p.Asn364Thr) c.908A>C (p.Asn303Thr) c.1448A>C (p.Asn483Thr) c.1067A>C (p.Asn356Thr) c.554A>C (p.Asn185Thr) n.37984T>G | |
11 | g.2662015A>G | CA216170778 | KCNQ1,KCNQ1OT1 | c.1091A>G (p.Asn364Ser) c.908A>G (p.Asn303Ser) c.1448A>G (p.Asn483Ser) c.1067A>G (p.Asn356Ser) c.554A>G (p.Asn185Ser) n.37984T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2662015A>T | CA379479569 | KCNQ1,KCNQ1OT1 | c.1091A>T (p.Asn364Ile) c.908A>T (p.Asn303Ile) c.1448A>T (p.Asn483Ile) c.1067A>T (p.Asn356Ile) c.554A>T (p.Asn185Ile) n.37984T>A | |
11 | g.2662016C>A | CA379479571 | KCNQ1,KCNQ1OT1 | c.1092C>A (p.Asn364Lys) c.909C>A (p.Asn303Lys) c.1449C>A (p.Asn483Lys) c.1068C>A (p.Asn356Lys) c.555C>A (p.Asn185Lys) n.37983G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662016C= | CA1948247740 | KCNQ1,KCNQ1OT1 | c.1092C= (p.Asn364=) c.909C= (p.Asn303=) c.1449C= (p.Asn483=) c.1068C= (p.Asn356=) c.555C= (p.Asn185=) n.37983G= | |
11 | g.2662016C>G | CA379479573 | KCNQ1,KCNQ1OT1 | c.1092C>G (p.Asn364Lys) c.909C>G (p.Asn303Lys) c.1449C>G (p.Asn483Lys) c.1068C>G (p.Asn356Lys) c.555C>G (p.Asn185Lys) n.37983G>C | |
11 | g.2662016C>T | CA472236293 | KCNQ1,KCNQ1OT1 | c.1092C>T (p.Asn364=) c.909C>T (p.Asn303=) c.1449C>T (p.Asn483=) c.1068C>T (p.Asn356=) c.555C>T (p.Asn185=) n.37983G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662017A>C | CA379479578 | KCNQ1,KCNQ1OT1 | c.1093A>C (p.Ser365Arg) c.910A>C (p.Ser304Arg) c.1450A>C (p.Ser484Arg) c.1069A>C (p.Ser357Arg) c.556A>C (p.Ser186Arg) n.37982T>G | |
11 | g.2662017A>G | CA379479576 | KCNQ1,KCNQ1OT1 | c.1093A>G (p.Ser365Gly) c.910A>G (p.Ser304Gly) c.1450A>G (p.Ser484Gly) c.1069A>G (p.Ser357Gly) c.556A>G (p.Ser186Gly) n.37982T>C | |
11 | g.2662017A>T | CA379479575 | KCNQ1,KCNQ1OT1 | c.1093A>T (p.Ser365Cys) c.910A>T (p.Ser304Cys) c.1450A>T (p.Ser484Cys) c.1069A>T (p.Ser357Cys) c.556A>T (p.Ser186Cys) n.37982T>A | |
11 | g.2662018G>A | CA379479580 | KCNQ1,KCNQ1OT1 | c.1094G>A (p.Ser365Asn) c.911G>A (p.Ser304Asn) c.1451G>A (p.Ser484Asn) c.1070G>A (p.Ser357Asn) c.557G>A (p.Ser186Asn) n.37981C>T | COSMIC COSMIC |
11 | g.2662018G>C | CA005774 | KCNQ1,KCNQ1OT1 | c.1094G>C (p.Ser365Thr) c.911G>C (p.Ser304Thr) c.1451G>C (p.Ser484Thr) c.1070G>C (p.Ser357Thr) c.557G>C (p.Ser186Thr) n.37981C>G | ClinVar dbSNP gnomAD v4 |
11 | g.2662018G= | CA1948247744 | KCNQ1,KCNQ1OT1 | c.1094G= (p.Ser365=) c.911G= (p.Ser304=) c.1451G= (p.Ser484=) c.1070G= (p.Ser357=) c.557G= (p.Ser186=) n.37981C= | |
11 | g.2662018G>T | CA379479584 | KCNQ1,KCNQ1OT1 | c.1094G>T (p.Ser365Ile) c.911G>T (p.Ser304Ile) c.1451G>T (p.Ser484Ile) c.1070G>T (p.Ser357Ile) c.557G>T (p.Ser186Ile) n.37981C>A | |
11 | g.2662019C>A | CA379479585 | KCNQ1,KCNQ1OT1 | c.1095C>A (p.Ser365Arg) c.912C>A (p.Ser304Arg) c.1452C>A (p.Ser484Arg) c.1071C>A (p.Ser357Arg) c.558C>A (p.Ser186Arg) n.37980G>T | |
11 | g.2662019C>G | CA379479586 | KCNQ1,KCNQ1OT1 | c.1095C>G (p.Ser365Arg) c.912C>G (p.Ser304Arg) c.1452C>G (p.Ser484Arg) c.1071C>G (p.Ser357Arg) c.558C>G (p.Ser186Arg) n.37980G>C | |
11 | g.2662019C>T | CA472236294 | KCNQ1,KCNQ1OT1 | c.1095C>T (p.Ser365=) c.912C>T (p.Ser304=) c.1452C>T (p.Ser484=) c.1071C>T (p.Ser357=) c.558C>T (p.Ser186=) n.37980G>A | gnomAD v4 |
11 | g.2662020T>A | CA379479590 | KCNQ1,KCNQ1OT1 | c.1096T>A (p.Phe366Ile) c.913T>A (p.Phe305Ile) c.1453T>A (p.Phe485Ile) c.1072T>A (p.Phe358Ile) c.559T>A (p.Phe187Ile) n.37979A>T | |
11 | g.2662020T>C | CA379479588 | KCNQ1,KCNQ1OT1 | c.1096T>C (p.Phe366Leu) c.913T>C (p.Phe305Leu) c.1453T>C (p.Phe485Leu) c.1072T>C (p.Phe358Leu) c.559T>C (p.Phe187Leu) n.37979A>G | |
11 | g.2662020T>G | CA379479587 | KCNQ1,KCNQ1OT1 | c.1096T>G (p.Phe366Val) c.913T>G (p.Phe305Val) c.1453T>G (p.Phe485Val) c.1072T>G (p.Phe358Val) c.559T>G (p.Phe187Val) n.37979A>C | |
11 | g.2662021T>A | CA379479592 | KCNQ1,KCNQ1OT1 | c.1097T>A (p.Phe366Tyr) c.914T>A (p.Phe305Tyr) c.1454T>A (p.Phe485Tyr) c.1073T>A (p.Phe358Tyr) c.560T>A (p.Phe187Tyr) n.37978A>T | |
11 | g.2662021T>C | CA379479594 | KCNQ1,KCNQ1OT1 | c.1097T>C (p.Phe366Ser) c.914T>C (p.Phe305Ser) c.1454T>C (p.Phe485Ser) c.1073T>C (p.Phe358Ser) c.560T>C (p.Phe187Ser) n.37978A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662021T>G | CA379479595 | KCNQ1,KCNQ1OT1 | c.1097T>G (p.Phe366Cys) c.914T>G (p.Phe305Cys) c.1454T>G (p.Phe485Cys) c.1073T>G (p.Phe358Cys) c.560T>G (p.Phe187Cys) n.37978A>C | |
11 | g.2662021T= | CA1948247750 | KCNQ1,KCNQ1OT1 | c.1097T= (p.Phe366=) c.914T= (p.Phe305=) c.1454T= (p.Phe485=) c.1073T= (p.Phe358=) c.560T= (p.Phe187=) n.37978A= | |
11 | g.2662022C>A | CA379479597 | KCNQ1,KCNQ1OT1 | c.1098C>A (p.Phe366Leu) c.915C>A (p.Phe305Leu) c.1455C>A (p.Phe485Leu) c.1074C>A (p.Phe358Leu) c.561C>A (p.Phe187Leu) n.37977G>T | |
11 | g.2662022C= | CA1948247760 | KCNQ1,KCNQ1OT1 | c.1098C= (p.Phe366=) c.915C= (p.Phe305=) c.1455C= (p.Phe485=) c.1074C= (p.Phe358=) c.561C= (p.Phe187=) n.37977G= | |
11 | g.2662022C>G | CA379479599 | KCNQ1,KCNQ1OT1 | c.1098C>G (p.Phe366Leu) c.915C>G (p.Phe305Leu) c.1455C>G (p.Phe485Leu) c.1074C>G (p.Phe358Leu) c.561C>G (p.Phe187Leu) n.37977G>C | |
11 | g.2662022C>T | CA005779 | KCNQ1,KCNQ1OT1 | c.1098C>T (p.Phe366=) c.915C>T (p.Phe305=) c.1455C>T (p.Phe485=) c.1074C>T (p.Phe358=) c.561C>T (p.Phe187=) n.37977G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662023G>A | CA029975 | KCNQ1,KCNQ1OT1 | c.1099G>A (p.Ala367Thr) c.916G>A (p.Ala306Thr) c.1456G>A (p.Ala486Thr) c.1075G>A (p.Ala359Thr) c.562G>A (p.Ala188Thr) n.37976C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662023G>C | CA349428 | KCNQ1,KCNQ1OT1 | c.1099G>C (p.Ala367Pro) c.916G>C (p.Ala306Pro) c.1456G>C (p.Ala486Pro) c.1075G>C (p.Ala359Pro) c.562G>C (p.Ala188Pro) n.37976C>G | ClinVar dbSNP |
11 | g.2662023G= | CA1948247774 | KCNQ1,KCNQ1OT1 | c.1099G= (p.Ala367=) c.916G= (p.Ala306=) c.1456G= (p.Ala486=) c.1075G= (p.Ala359=) c.562G= (p.Ala188=) n.37976C= | |
11 | g.2662023G>T | CA379479603 | KCNQ1,KCNQ1OT1 | c.1099G>T (p.Ala367Ser) c.916G>T (p.Ala306Ser) c.1456G>T (p.Ala486Ser) c.1075G>T (p.Ala359Ser) c.562G>T (p.Ala188Ser) n.37976C>A | |
11 | g.2662024C>A | CA379479606 | KCNQ1,KCNQ1OT1 | c.1100C>A (p.Ala367Asp) c.917C>A (p.Ala306Asp) c.1457C>A (p.Ala486Asp) c.1076C>A (p.Ala359Asp) c.563C>A (p.Ala188Asp) n.37975G>T | |
11 | g.2662024C>G | CA379479609 | KCNQ1,KCNQ1OT1 | c.1100C>G (p.Ala367Gly) c.917C>G (p.Ala306Gly) c.1457C>G (p.Ala486Gly) c.1076C>G (p.Ala359Gly) c.563C>G (p.Ala188Gly) n.37975G>C | |
11 | g.2662024C>T | CA379479611 | KCNQ1,KCNQ1OT1 | c.1100C>T (p.Ala367Val) c.917C>T (p.Ala306Val) c.1457C>T (p.Ala486Val) c.1076C>T (p.Ala359Val) c.563C>T (p.Ala188Val) n.37975G>A | ClinVar gnomAD v4 |
11 | g.2662025C>A | CA472236295 | KCNQ1,KCNQ1OT1 | c.1101C>A (p.Ala367=) c.918C>A (p.Ala306=) c.1458C>A (p.Ala486=) c.1077C>A (p.Ala359=) c.564C>A (p.Ala188=) n.37974G>T | |
11 | g.2662025C= | CA1948247778 | KCNQ1,KCNQ1OT1 | c.1101C= (p.Ala367=) c.918C= (p.Ala306=) c.1458C= (p.Ala486=) c.1077C= (p.Ala359=) c.564C= (p.Ala188=) n.37974G= | |
11 | g.2662025C>G | CA472236296 | KCNQ1,KCNQ1OT1 | c.1101C>G (p.Ala367=) c.918C>G (p.Ala306=) c.1458C>G (p.Ala486=) c.1077C>G (p.Ala359=) c.564C>G (p.Ala188=) n.37974G>C | |
11 | g.2662025C>T | CA029993 | KCNQ1,KCNQ1OT1 | c.1101C>T (p.Ala367=) c.918C>T (p.Ala306=) c.1458C>T (p.Ala486=) c.1077C>T (p.Ala359=) c.564C>T (p.Ala188=) n.37974G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662026G>A | CA379479615 | KCNQ1,KCNQ1OT1 | c.1102G>A (p.Glu368Lys) c.919G>A (p.Glu307Lys) c.1459G>A (p.Glu487Lys) c.1078G>A (p.Glu360Lys) c.565G>A (p.Glu189Lys) n.37973C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662026G>C | CA379479617 | KCNQ1,KCNQ1OT1 | c.1102G>C (p.Glu368Gln) c.919G>C (p.Glu307Gln) c.1459G>C (p.Glu487Gln) c.1078G>C (p.Glu360Gln) c.565G>C (p.Glu189Gln) n.37973C>G | |
11 | g.2662026G= | CA1948247783 | KCNQ1,KCNQ1OT1 | c.1102G= (p.Glu368=) c.919G= (p.Glu307=) c.1459G= (p.Glu487=) c.1078G= (p.Glu360=) c.565G= (p.Glu189=) n.37973C= | |
11 | g.2662026G>T | CA379479619 | KCNQ1,KCNQ1OT1 | c.1102G>T (p.Glu368Ter) c.919G>T (p.Glu307Ter) c.1459G>T (p.Glu487Ter) c.1078G>T (p.Glu360Ter) c.565G>T (p.Glu189Ter) n.37973C>A | ClinVar |
11 | g.2662027A= | CA1948247789 | KCNQ1,KCNQ1OT1 | c.1103A= (p.Glu368=) c.920A= (p.Glu307=) c.1460A= (p.Glu487=) c.1079A= (p.Glu360=) c.566A= (p.Glu189=) n.37972T= | |
11 | g.2662027A>C | CA379479621 | KCNQ1,KCNQ1OT1 | c.1103A>C (p.Glu368Ala) c.920A>C (p.Glu307Ala) c.1460A>C (p.Glu487Ala) c.1079A>C (p.Glu360Ala) c.566A>C (p.Glu189Ala) n.37972T>G | |
11 | g.2662027A>G | CA379479624 | KCNQ1,KCNQ1OT1 | c.1103A>G (p.Glu368Gly) c.920A>G (p.Glu307Gly) c.1460A>G (p.Glu487Gly) c.1079A>G (p.Glu360Gly) c.566A>G (p.Glu189Gly) n.37972T>C | |
11 | g.2662027A>T | CA379479625 | KCNQ1,KCNQ1OT1 | c.1103A>T (p.Glu368Val) c.920A>T (p.Glu307Val) c.1460A>T (p.Glu487Val) c.1079A>T (p.Glu360Val) c.566A>T (p.Glu189Val) n.37972T>A | |
11 | g.2662027_2662032dup | CA2612007045 | KCNQ1,KCNQ1OT1 | c.1103_1108dup (p.Asp369_Leu370insGlnAsp) c.920_925dup (p.Asp308_Leu309insGlnAsp) c.1460_1465dup (p.Asp488_Leu489insGlnAsp) c.1079_1084dup (p.Asp361_Leu362insGlnAsp) c.566_571dup (p.Asp190_Leu191insGlnAsp) n.37967_37972dup | gnomAD v4 |
11 | g.2662028G>A | CA472236297 | KCNQ1,KCNQ1OT1 | c.1104G>A (p.Glu368=) c.921G>A (p.Glu307=) c.1461G>A (p.Glu487=) c.1080G>A (p.Glu360=) c.567G>A (p.Glu189=) n.37971C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662028G>C | CA379479626 | KCNQ1,KCNQ1OT1 | c.1104G>C (p.Glu368Asp) c.921G>C (p.Glu307Asp) c.1461G>C (p.Glu487Asp) c.1080G>C (p.Glu360Asp) c.567G>C (p.Glu189Asp) n.37971C>G | |
11 | g.2662028G= | CA1948247793 | KCNQ1,KCNQ1OT1 | c.1104G= (p.Glu368=) c.921G= (p.Glu307=) c.1461G= (p.Glu487=) c.1080G= (p.Glu360=) c.567G= (p.Glu189=) n.37971C= | |
11 | g.2662028G>T | CA379479627 | KCNQ1,KCNQ1OT1 | c.1104G>T (p.Glu368Asp) c.921G>T (p.Glu307Asp) c.1461G>T (p.Glu487Asp) c.1080G>T (p.Glu360Asp) c.567G>T (p.Glu189Asp) n.37971C>A | |
11 | g.2662029del | CA658761332 | KCNQ1,KCNQ1OT1 | c.1105del (p.Asp369ThrfsTer10) c.922del (p.Asp308ThrfsTer10) c.1462del (p.Asp488ThrfsTer10) c.1081del (p.Asp361ThrfsTer10) c.568del (p.Asp190ThrfsTer10) n.37971del | |
11 | g.2662037_2662042dup | CA597443115 | KCNQ1,KCNQ1OT1 | c.1113_1118dup (p.Leu372_Glu373insAspLeu) c.930_935dup (p.Leu311_Glu312insAspLeu) c.1470_1475dup (p.Leu491_Glu492insAspLeu) c.1089_1094dup (p.Leu364_Glu365insAspLeu) c.576_581dup (p.Leu193_Glu194insAspLeu) n.37966_37971dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662029G>A | CA379479630 | KCNQ1,KCNQ1OT1 | c.1105G>A (p.Asp369Asn) c.922G>A (p.Asp308Asn) c.1462G>A (p.Asp488Asn) c.1081G>A (p.Asp361Asn) c.568G>A (p.Asp190Asn) n.37970C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2662029G>C | CA379479632 | KCNQ1,KCNQ1OT1 | c.1105G>C (p.Asp369His) c.922G>C (p.Asp308His) c.1462G>C (p.Asp488His) c.1081G>C (p.Asp361His) c.568G>C (p.Asp190His) n.37970C>G | ClinVar dbSNP |
11 | g.2662029G>T | CA379479628 | KCNQ1,KCNQ1OT1 | c.1105G>T (p.Asp369Tyr) c.922G>T (p.Asp308Tyr) c.1462G>T (p.Asp488Tyr) c.1081G>T (p.Asp361Tyr) c.568G>T (p.Asp190Tyr) n.37970C>A | |
11 | g.2662030A>C | CA379479637 | KCNQ1,KCNQ1OT1 | c.1106A>C (p.Asp369Ala) c.923A>C (p.Asp308Ala) c.1463A>C (p.Asp488Ala) c.1082A>C (p.Asp361Ala) c.569A>C (p.Asp190Ala) n.37969T>G | |
11 | g.2662030A>G | CA379479634 | KCNQ1,KCNQ1OT1 | c.1106A>G (p.Asp369Gly) c.923A>G (p.Asp308Gly) c.1463A>G (p.Asp488Gly) c.1082A>G (p.Asp361Gly) c.569A>G (p.Asp190Gly) n.37969T>C | |
11 | g.2662030A>T | CA379479639 | KCNQ1,KCNQ1OT1 | c.1106A>T (p.Asp369Val) c.923A>T (p.Asp308Val) c.1463A>T (p.Asp488Val) c.1082A>T (p.Asp361Val) c.569A>T (p.Asp190Val) n.37969T>A | |
11 | g.2662031C>A | CA005784 | KCNQ1,KCNQ1OT1 | c.1107C>A (p.Asp369Glu) c.924C>A (p.Asp308Glu) c.1464C>A (p.Asp488Glu) c.1083C>A (p.Asp361Glu) c.570C>A (p.Asp190Glu) n.37968G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662031C= | CA1948247800 | KCNQ1,KCNQ1OT1 | c.1107C= (p.Asp369=) c.924C= (p.Asp308=) c.1464C= (p.Asp488=) c.1083C= (p.Asp361=) c.570C= (p.Asp190=) n.37968G= | |
11 | g.2662031C>G | CA379479642 | KCNQ1,KCNQ1OT1 | c.1107C>G (p.Asp369Glu) c.924C>G (p.Asp308Glu) c.1464C>G (p.Asp488Glu) c.1083C>G (p.Asp361Glu) c.570C>G (p.Asp190Glu) n.37968G>C | |
11 | g.2662031C>T | CA472236298 | KCNQ1,KCNQ1OT1 | c.1107C>T (p.Asp369=) c.924C>T (p.Asp308=) c.1464C>T (p.Asp488=) c.1083C>T (p.Asp361=) c.570C>T (p.Asp190=) n.37968G>A | gnomAD v4 |
11 | g.2662032C>A | CA379479644 | KCNQ1,KCNQ1OT1 | c.1108C>A (p.Leu370Met) c.925C>A (p.Leu309Met) c.1465C>A (p.Leu489Met) c.1084C>A (p.Leu362Met) c.571C>A (p.Leu191Met) n.37967G>T | |
11 | g.2662032C>G | CA379479647 | KCNQ1,KCNQ1OT1 | c.1108C>G (p.Leu370Val) c.925C>G (p.Leu309Val) c.1465C>G (p.Leu489Val) c.1084C>G (p.Leu362Val) c.571C>G (p.Leu191Val) n.37967G>C | |
11 | g.2662032C>T | CA472236299 | KCNQ1,KCNQ1OT1 | c.1108C>T (p.Leu370=) c.925C>T (p.Leu309=) c.1465C>T (p.Leu489=) c.1084C>T (p.Leu362=) c.571C>T (p.Leu191=) n.37967G>A | gnomAD v4 |
11 | g.2662033T>A | CA379479650 | KCNQ1,KCNQ1OT1 | c.1109T>A (p.Leu370Gln) c.926T>A (p.Leu309Gln) c.1466T>A (p.Leu489Gln) c.1085T>A (p.Leu362Gln) c.572T>A (p.Leu191Gln) n.37966A>T | |
11 | g.2662033T>C | CA379479652 | KCNQ1,KCNQ1OT1 | c.1109T>C (p.Leu370Pro) c.926T>C (p.Leu309Pro) c.1466T>C (p.Leu489Pro) c.1085T>C (p.Leu362Pro) c.572T>C (p.Leu191Pro) n.37966A>G | gnomAD v4 |
11 | g.2662033T>G | CA379479655 | KCNQ1,KCNQ1OT1 | c.1109T>G (p.Leu370Arg) c.926T>G (p.Leu309Arg) c.1466T>G (p.Leu489Arg) c.1085T>G (p.Leu362Arg) c.572T>G (p.Leu191Arg) n.37966A>C | dbSNP |
11 | g.2662033T= | CA1948247804 | KCNQ1,KCNQ1OT1 | c.1109T= (p.Leu370=) c.926T= (p.Leu309=) c.1466T= (p.Leu489=) c.1085T= (p.Leu362=) c.572T= (p.Leu191=) n.37966A= | |
11 | g.2662034G>A | CA472236302 | KCNQ1,KCNQ1OT1 | c.1110G>A (p.Leu370=) c.927G>A (p.Leu309=) c.1467G>A (p.Leu489=) c.1086G>A (p.Leu362=) c.573G>A (p.Leu191=) n.37965C>T | |
11 | g.2662034G>C | CA472236300 | KCNQ1,KCNQ1OT1 | c.1110G>C (p.Leu370=) c.927G>C (p.Leu309=) c.1467G>C (p.Leu489=) c.1086G>C (p.Leu362=) c.573G>C (p.Leu191=) n.37965C>G | ClinVar dbSNP |
11 | g.2662034G= | CA1948247809 | KCNQ1,KCNQ1OT1 | c.1110G= (p.Leu370=) c.927G= (p.Leu309=) c.1467G= (p.Leu489=) c.1086G= (p.Leu362=) c.573G= (p.Leu191=) n.37965C= | |
11 | g.2662034G>T | CA472236301 | KCNQ1,KCNQ1OT1 | c.1110G>T (p.Leu370=) c.927G>T (p.Leu309=) c.1467G>T (p.Leu489=) c.1086G>T (p.Leu362=) c.573G>T (p.Leu191=) n.37965C>A | |
11 | g.2662035G>A | CA379479658 | KCNQ1,KCNQ1OT1 | c.1111G>A (p.Asp371Asn) c.928G>A (p.Asp310Asn) c.1468G>A (p.Asp490Asn) c.1087G>A (p.Asp363Asn) c.574G>A (p.Asp192Asn) n.37964C>T | |
11 | g.2662035G>C | CA379479660 | KCNQ1,KCNQ1OT1 | c.1111G>C (p.Asp371His) c.928G>C (p.Asp310His) c.1468G>C (p.Asp490His) c.1087G>C (p.Asp363His) c.574G>C (p.Asp192His) n.37964C>G | |
11 | g.2662035G>T | CA379479663 | KCNQ1,KCNQ1OT1 | c.1111G>T (p.Asp371Tyr) c.928G>T (p.Asp310Tyr) c.1468G>T (p.Asp490Tyr) c.1087G>T (p.Asp363Tyr) c.574G>T (p.Asp192Tyr) n.37964C>A | |
11 | g.2662036A= | CA1948247818 | KCNQ1,KCNQ1OT1 | c.1112A= (p.Asp371=) c.929A= (p.Asp310=) c.1469A= (p.Asp490=) c.1088A= (p.Asp363=) c.575A= (p.Asp192=) n.37963T= | |
11 | g.2662036A>C | CA379479665 | KCNQ1,KCNQ1OT1 | c.1112A>C (p.Asp371Ala) c.929A>C (p.Asp310Ala) c.1469A>C (p.Asp490Ala) c.1088A>C (p.Asp363Ala) c.575A>C (p.Asp192Ala) n.37963T>G | |
11 | g.2662036A>G | CA379479666 | KCNQ1,KCNQ1OT1 | c.1112A>G (p.Asp371Gly) c.929A>G (p.Asp310Gly) c.1469A>G (p.Asp490Gly) c.1088A>G (p.Asp363Gly) c.575A>G (p.Asp192Gly) n.37963T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2662036A>T | CA379479668 | KCNQ1,KCNQ1OT1 | c.1112A>T (p.Asp371Val) c.929A>T (p.Asp310Val) c.1469A>T (p.Asp490Val) c.1088A>T (p.Asp363Val) c.575A>T (p.Asp192Val) n.37963T>A | |
11 | g.2662037C>A | CA379479678 | KCNQ1,KCNQ1OT1 | c.1113C>A (p.Asp371Glu) c.930C>A (p.Asp310Glu) c.1470C>A (p.Asp490Glu) c.1089C>A (p.Asp363Glu) c.576C>A (p.Asp192Glu) n.37962G>T | |
11 | g.2662037C>G | CA379479680 | KCNQ1,KCNQ1OT1 | c.1113C>G (p.Asp371Glu) c.930C>G (p.Asp310Glu) c.1470C>G (p.Asp490Glu) c.1089C>G (p.Asp363Glu) c.576C>G (p.Asp192Glu) n.37962G>C | |
11 | g.2662037C>T | CA472236303 | KCNQ1,KCNQ1OT1 | c.1113C>T (p.Asp371=) c.930C>T (p.Asp310=) c.1470C>T (p.Asp490=) c.1089C>T (p.Asp363=) c.576C>T (p.Asp192=) n.37962G>A | |
11 | g.2662038C>A | CA379479683 | KCNQ1,KCNQ1OT1 | c.1114C>A (p.Leu372Met) c.931C>A (p.Leu311Met) c.1471C>A (p.Leu491Met) c.1090C>A (p.Leu364Met) c.577C>A (p.Leu193Met) n.37961G>T | |
11 | g.2662038C>G | CA379479685 | KCNQ1,KCNQ1OT1 | c.1114C>G (p.Leu372Val) c.931C>G (p.Leu311Val) c.1471C>G (p.Leu491Val) c.1090C>G (p.Leu364Val) c.577C>G (p.Leu193Val) n.37961G>C | ClinVar |
11 | g.2662038C>T | CA472236304 | KCNQ1,KCNQ1OT1 | c.1114C>T (p.Leu372=) c.931C>T (p.Leu311=) c.1471C>T (p.Leu491=) c.1090C>T (p.Leu364=) c.577C>T (p.Leu193=) n.37961G>A | gnomAD v4 |
11 | g.2662038_2662058del | CA645569427 | KCNQ1,KCNQ1OT1 | c.1114_1134del (p.Leu372_Leu378del) c.931_951del (p.Leu311_Leu317del) c.1471_1491del (p.Leu491_Leu497del) c.1090_1110del (p.Leu364_Leu370del) c.577_597del (p.Leu193_Leu199del) n.37941_37961del | COSMIC COSMIC |
11 | g.2662039T>A | CA379479686 | KCNQ1,KCNQ1OT1 | c.1115T>A (p.Leu372Gln) c.932T>A (p.Leu311Gln) c.1472T>A (p.Leu491Gln) c.1091T>A (p.Leu364Gln) c.578T>A (p.Leu193Gln) n.37960A>T | |
11 | g.2662039T>C | CA379479687 | KCNQ1,KCNQ1OT1 | c.1115T>C (p.Leu372Pro) c.932T>C (p.Leu311Pro) c.1472T>C (p.Leu491Pro) c.1091T>C (p.Leu364Pro) c.578T>C (p.Leu193Pro) n.37960A>G | gnomAD v4 |
11 | g.2662039T>G | CA379479688 | KCNQ1,KCNQ1OT1 | c.1115T>G (p.Leu372Arg) c.932T>G (p.Leu311Arg) c.1472T>G (p.Leu491Arg) c.1091T>G (p.Leu364Arg) c.578T>G (p.Leu193Arg) n.37960A>C | |
11 | g.2662040G>A | CA472236305 | KCNQ1,KCNQ1OT1 | c.1116G>A (p.Leu372=) c.933G>A (p.Leu311=) c.1473G>A (p.Leu491=) c.1092G>A (p.Leu364=) c.579G>A (p.Leu193=) n.37959C>T | |
11 | g.2662040G>C | CA472236306 | KCNQ1,KCNQ1OT1 | c.1116G>C (p.Leu372=) c.933G>C (p.Leu311=) c.1473G>C (p.Leu491=) c.1092G>C (p.Leu364=) c.579G>C (p.Leu193=) n.37959C>G | COSMIC COSMIC |
11 | g.2662040G>T | CA472236307 | KCNQ1,KCNQ1OT1 | c.1116G>T (p.Leu372=) c.933G>T (p.Leu311=) c.1473G>T (p.Leu491=) c.1092G>T (p.Leu364=) c.579G>T (p.Leu193=) n.37959C>A | |
11 | g.2662041G>A | CA379479689 | KCNQ1,KCNQ1OT1 | c.1117G>A (p.Glu373Lys) c.934G>A (p.Glu312Lys) c.1474G>A (p.Glu492Lys) c.1093G>A (p.Glu365Lys) c.580G>A (p.Glu194Lys) n.37958C>T | |
11 | g.2662041G>C | CA379479690 | KCNQ1,KCNQ1OT1 | c.1117G>C (p.Glu373Gln) c.934G>C (p.Glu312Gln) c.1474G>C (p.Glu492Gln) c.1093G>C (p.Glu365Gln) c.580G>C (p.Glu194Gln) n.37958C>G | |
11 | g.2662041G>T | CA379479692 | KCNQ1,KCNQ1OT1 | c.1117G>T (p.Glu373Ter) c.934G>T (p.Glu312Ter) c.1474G>T (p.Glu492Ter) c.1093G>T (p.Glu365Ter) c.580G>T (p.Glu194Ter) n.37958C>A | |
11 | g.2662042A>C | CA379479694 | KCNQ1,KCNQ1OT1 | c.1118A>C (p.Glu373Ala) c.935A>C (p.Glu312Ala) c.1475A>C (p.Glu492Ala) c.1094A>C (p.Glu365Ala) c.581A>C (p.Glu194Ala) n.37957T>G | |
11 | g.2662042A>G | CA379479697 | KCNQ1,KCNQ1OT1 | c.1118A>G (p.Glu373Gly) c.935A>G (p.Glu312Gly) c.1475A>G (p.Glu492Gly) c.1094A>G (p.Glu365Gly) c.581A>G (p.Glu194Gly) n.37957T>C | |
11 | g.2662042A>T | CA379479698 | KCNQ1,KCNQ1OT1 | c.1118A>T (p.Glu373Val) c.935A>T (p.Glu312Val) c.1475A>T (p.Glu492Val) c.1094A>T (p.Glu365Val) c.581A>T (p.Glu194Val) n.37957T>A | |
11 | g.2662043del | CA2697558903 | KCNQ1,KCNQ1OT1 | c.1119del (p.Glu375ArgfsTer4) c.936del (p.Glu314ArgfsTer4) c.1476del (p.Glu494ArgfsTer4) c.1095del (p.Glu367ArgfsTer4) c.582del (p.Glu196ArgfsTer4) n.37957del | ClinVar |
11 | g.2662043A= | CA1948247823 | KCNQ1,KCNQ1OT1 | c.1119A= (p.Glu373=) c.936A= (p.Glu312=) c.1476A= (p.Glu492=) c.1095A= (p.Glu365=) c.582A= (p.Glu194=) n.37956T= | |
11 | g.2662043A>C | CA379479703 | KCNQ1,KCNQ1OT1 | c.1119A>C (p.Glu373Asp) c.936A>C (p.Glu312Asp) c.1476A>C (p.Glu492Asp) c.1095A>C (p.Glu365Asp) c.582A>C (p.Glu194Asp) n.37956T>G | |
11 | g.2662043A>G | CA005791 | KCNQ1,KCNQ1OT1 | c.1119A>G (p.Glu373=) c.936A>G (p.Glu312=) c.1476A>G (p.Glu492=) c.1095A>G (p.Glu365=) c.582A>G (p.Glu194=) n.37956T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662043A>T | CA379479700 | KCNQ1,KCNQ1OT1 | c.1119A>T (p.Glu373Asp) c.936A>T (p.Glu312Asp) c.1476A>T (p.Glu492Asp) c.1095A>T (p.Glu365Asp) c.582A>T (p.Glu194Asp) n.37956T>A | |
11 | g.2662044G>A | CA379479708 | KCNQ1,KCNQ1OT1 | c.1120G>A (p.Gly374Arg) c.937G>A (p.Gly313Arg) c.1477G>A (p.Gly493Arg) c.1096G>A (p.Gly366Arg) c.583G>A (p.Gly195Arg) n.37955C>T | |
11 | g.2662044G>C | CA379479709 | KCNQ1,KCNQ1OT1 | c.1120G>C (p.Gly374Arg) c.937G>C (p.Gly313Arg) c.1477G>C (p.Gly493Arg) c.1096G>C (p.Gly366Arg) c.583G>C (p.Gly195Arg) n.37955C>G | |
11 | g.2662044G>T | CA379479711 | KCNQ1,KCNQ1OT1 | c.1120G>T (p.Gly374Trp) c.937G>T (p.Gly313Trp) c.1477G>T (p.Gly493Trp) c.1096G>T (p.Gly366Trp) c.583G>T (p.Gly195Trp) n.37955C>A | |
11 | g.2662047dup | CA10575753 | KCNQ1,KCNQ1OT1 | c.1123dup (p.Glu375GlyfsTer22) c.940dup (p.Glu314GlyfsTer22) c.1480dup (p.Glu494GlyfsTer22) c.1099dup (p.Glu367GlyfsTer22) c.586dup (p.Glu196GlyfsTer22) n.37955dup | ClinVar dbSNP |
11 | g.2662045G>A | CA379479713 | KCNQ1,KCNQ1OT1 | c.1121G>A (p.Gly374Glu) c.938G>A (p.Gly313Glu) c.1478G>A (p.Gly493Glu) c.1097G>A (p.Gly366Glu) c.584G>A (p.Gly195Glu) n.37954C>T | ClinVar |
11 | g.2662045G>C | CA030046 | KCNQ1,KCNQ1OT1 | c.1121G>C (p.Gly374Ala) c.938G>C (p.Gly313Ala) c.1478G>C (p.Gly493Ala) c.1097G>C (p.Gly366Ala) c.584G>C (p.Gly195Ala) n.37954C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662045G= | CA1948247835 | KCNQ1,KCNQ1OT1 | c.1121G= (p.Gly374=) c.938G= (p.Gly313=) c.1478G= (p.Gly493=) c.1097G= (p.Gly366=) c.584G= (p.Gly195=) n.37954C= | |
11 | g.2662045G>T | CA379479717 | KCNQ1,KCNQ1OT1 | c.1121G>T (p.Gly374Val) c.938G>T (p.Gly313Val) c.1478G>T (p.Gly493Val) c.1097G>T (p.Gly366Val) c.584G>T (p.Gly195Val) n.37954C>A | |
11 | g.2662046G>A | CA472236310 | KCNQ1,KCNQ1OT1 | c.1122G>A (p.Gly374=) c.939G>A (p.Gly313=) c.1479G>A (p.Gly493=) c.1098G>A (p.Gly366=) c.585G>A (p.Gly195=) n.37953C>T | |
11 | g.2662046G>C | CA472236308 | KCNQ1,KCNQ1OT1 | c.1122G>C (p.Gly374=) c.939G>C (p.Gly313=) c.1479G>C (p.Gly493=) c.1098G>C (p.Gly366=) c.585G>C (p.Gly195=) n.37953C>G | |
11 | g.2662046G>T | CA472236309 | KCNQ1,KCNQ1OT1 | c.1122G>T (p.Gly374=) c.939G>T (p.Gly313=) c.1479G>T (p.Gly493=) c.1098G>T (p.Gly366=) c.585G>T (p.Gly195=) n.37953C>A | |
11 | g.2662047G>A | CA379479720 | KCNQ1,KCNQ1OT1 | c.1123G>A (p.Glu375Lys) c.940G>A (p.Glu314Lys) c.1480G>A (p.Glu494Lys) c.1099G>A (p.Glu367Lys) c.586G>A (p.Glu196Lys) n.37952C>T | |
11 | g.2662047G>C | CA379479718 | KCNQ1,KCNQ1OT1 | c.1123G>C (p.Glu375Gln) c.940G>C (p.Glu314Gln) c.1480G>C (p.Glu494Gln) c.1099G>C (p.Glu367Gln) c.586G>C (p.Glu196Gln) n.37952C>G | |
11 | g.2662047G>T | CA379479719 | KCNQ1,KCNQ1OT1 | c.1123G>T (p.Glu375Ter) c.940G>T (p.Glu314Ter) c.1480G>T (p.Glu494Ter) c.1099G>T (p.Glu367Ter) c.586G>T (p.Glu196Ter) n.37952C>A | ClinVar gnomAD v4 |
11 | g.2662048A>C | CA379479721 | KCNQ1,KCNQ1OT1 | c.1124A>C (p.Glu375Ala) c.941A>C (p.Glu314Ala) c.1481A>C (p.Glu494Ala) c.1100A>C (p.Glu367Ala) c.587A>C (p.Glu196Ala) n.37951T>G | |
11 | g.2662048A>G | CA379479722 | KCNQ1,KCNQ1OT1 | c.1124A>G (p.Glu375Gly) c.941A>G (p.Glu314Gly) c.1481A>G (p.Glu494Gly) c.1100A>G (p.Glu367Gly) c.587A>G (p.Glu196Gly) n.37951T>C | ClinVar |
11 | g.2662048A>T | CA379479723 | KCNQ1,KCNQ1OT1 | c.1124A>T (p.Glu375Val) c.941A>T (p.Glu314Val) c.1481A>T (p.Glu494Val) c.1100A>T (p.Glu367Val) c.587A>T (p.Glu196Val) n.37951T>A | |
11 | g.2662049G>A | CA472236311 | KCNQ1,KCNQ1OT1 | c.1125G>A (p.Glu375=) c.942G>A (p.Glu314=) c.1482G>A (p.Glu494=) c.1101G>A (p.Glu367=) c.588G>A (p.Glu196=) n.37950C>T | gnomAD v4 |
11 | g.2662049G>C | CA379479726 | KCNQ1,KCNQ1OT1 | c.1125G>C (p.Glu375Asp) c.942G>C (p.Glu314Asp) c.1482G>C (p.Glu494Asp) c.1101G>C (p.Glu367Asp) c.588G>C (p.Glu196Asp) n.37950C>G | |
11 | g.2662049G>T | CA379479728 | KCNQ1,KCNQ1OT1 | c.1125G>T (p.Glu375Asp) c.942G>T (p.Glu314Asp) c.1482G>T (p.Glu494Asp) c.1101G>T (p.Glu367Asp) c.588G>T (p.Glu196Asp) n.37950C>A | ClinVar |
11 | g.2662050A= | CA1948247843 | KCNQ1,KCNQ1OT1 | c.1126A= (p.Thr376=) c.943A= (p.Thr315=) c.1483A= (p.Thr495=) c.1102A= (p.Thr368=) c.589A= (p.Thr197=) n.37949T= | |
11 | g.2662050A>C | CA379479731 | KCNQ1,KCNQ1OT1 | c.1126A>C (p.Thr376Pro) c.943A>C (p.Thr315Pro) c.1483A>C (p.Thr495Pro) c.1102A>C (p.Thr368Pro) c.589A>C (p.Thr197Pro) n.37949T>G | |
11 | g.2662050A>G | CA030084 | KCNQ1,KCNQ1OT1 | c.1126A>G (p.Thr376Ala) c.943A>G (p.Thr315Ala) c.1483A>G (p.Thr495Ala) c.1102A>G (p.Thr368Ala) c.589A>G (p.Thr197Ala) n.37949T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662050A>T | CA379479736 | KCNQ1,KCNQ1OT1 | c.1126A>T (p.Thr376Ser) c.943A>T (p.Thr315Ser) c.1483A>T (p.Thr495Ser) c.1102A>T (p.Thr368Ser) c.589A>T (p.Thr197Ser) n.37949T>A | |
11 | g.2662050_2662052delinsACT | CA1948247842 | KCNQ1,KCNQ1OT1 | c.1126_1128delinsACT (p.Thr376=) c.943_945delinsACT (p.Thr315=) c.1483_1485delinsACT (p.Thr495=) c.1102_1104delinsACT (p.Thr368=) c.589_591delinsACT (p.Thr197=) n.37947_37949delinsAGT | |
11 | g.2662051C>A | CA379479739 | KCNQ1,KCNQ1OT1 | c.1127C>A (p.Thr376Asn) c.944C>A (p.Thr315Asn) c.1484C>A (p.Thr495Asn) c.1103C>A (p.Thr368Asn) c.590C>A (p.Thr197Asn) n.37948G>T | |
11 | g.2662051C= | CA1948247849 | KCNQ1,KCNQ1OT1 | c.1127C= (p.Thr376=) c.944C= (p.Thr315=) c.1484C= (p.Thr495=) c.1103C= (p.Thr368=) c.590C= (p.Thr197=) n.37948G= | |
11 | g.2662051C>G | CA030102 | KCNQ1,KCNQ1OT1 | c.1127C>G (p.Thr376Ser) c.944C>G (p.Thr315Ser) c.1484C>G (p.Thr495Ser) c.1103C>G (p.Thr368Ser) c.590C>G (p.Thr197Ser) n.37948G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662051C>T | CA379479741 | KCNQ1,KCNQ1OT1 | c.1127C>T (p.Thr376Ile) c.944C>T (p.Thr315Ile) c.1484C>T (p.Thr495Ile) c.1103C>T (p.Thr368Ile) c.590C>T (p.Thr197Ile) n.37948G>A | |
11 | g.2662053_2662054del | CA005794 | KCNQ1,KCNQ1OT1 | c.1129_1130del (p.Leu377AlafsTer19) c.946_947del (p.Leu316AlafsTer19) c.1486_1487del (p.Leu496AlafsTer19) c.1105_1106del (p.Leu369AlafsTer19) c.592_593del (p.Leu198AlafsTer19) n.37947_37948del | ClinVar dbSNP gnomAD v4 |
11 | g.2662052T>A | CA472236312 | KCNQ1,KCNQ1OT1 | c.1128T>A (p.Thr376=) c.945T>A (p.Thr315=) c.1485T>A (p.Thr495=) c.1104T>A (p.Thr368=) c.591T>A (p.Thr197=) n.37947A>T | |
11 | g.2662052T>C | CA472236313 | KCNQ1,KCNQ1OT1 | c.1128T>C (p.Thr376=) c.945T>C (p.Thr315=) c.1485T>C (p.Thr495=) c.1104T>C (p.Thr368=) c.591T>C (p.Thr197=) n.37947A>G | |
11 | g.2662052T>G | CA472236314 | KCNQ1,KCNQ1OT1 | c.1128T>G (p.Thr376=) c.945T>G (p.Thr315=) c.1485T>G (p.Thr495=) c.1104T>G (p.Thr368=) c.591T>G (p.Thr197=) n.37947A>C | gnomAD v4 |
11 | g.2662053C>A | CA379479745 | KCNQ1,KCNQ1OT1 | c.1129C>A (p.Leu377Met) c.946C>A (p.Leu316Met) c.1486C>A (p.Leu496Met) c.1105C>A (p.Leu369Met) c.592C>A (p.Leu198Met) n.37946G>T | |
11 | g.2662053C>G | CA379479748 | KCNQ1,KCNQ1OT1 | c.1129C>G (p.Leu377Val) c.946C>G (p.Leu316Val) c.1486C>G (p.Leu496Val) c.1105C>G (p.Leu369Val) c.592C>G (p.Leu198Val) n.37946G>C | |
11 | g.2662053C>T | CA472236315 | KCNQ1,KCNQ1OT1 | c.1129C>T (p.Leu377=) c.946C>T (p.Leu316=) c.1486C>T (p.Leu496=) c.1105C>T (p.Leu369=) c.592C>T (p.Leu198=) n.37946G>A | |
11 | g.2662054del | CA2580615605 | KCNQ1,KCNQ1OT1 | c.1130del (p.Leu377ArgfsTer2) c.947del (p.Leu316ArgfsTer2) c.1487del (p.Leu496ArgfsTer2) c.1106del (p.Leu369ArgfsTer2) c.593del (p.Leu198ArgfsTer2) n.37945del | ClinVar |
11 | g.2662054T>A | CA379479750 | KCNQ1,KCNQ1OT1 | c.1130T>A (p.Leu377Gln) c.947T>A (p.Leu316Gln) c.1487T>A (p.Leu496Gln) c.1106T>A (p.Leu369Gln) c.593T>A (p.Leu198Gln) n.37945A>T | ClinVar dbSNP gnomAD v4 |
11 | g.2662054T>C | CA379479752 | KCNQ1,KCNQ1OT1 | c.1130T>C (p.Leu377Pro) c.947T>C (p.Leu316Pro) c.1487T>C (p.Leu496Pro) c.1106T>C (p.Leu369Pro) c.593T>C (p.Leu198Pro) n.37945A>G | dbSNP |
11 | g.2662054T>G | CA379479754 | KCNQ1,KCNQ1OT1 | c.1130T>G (p.Leu377Arg) c.947T>G (p.Leu316Arg) c.1487T>G (p.Leu496Arg) c.1106T>G (p.Leu369Arg) c.593T>G (p.Leu198Arg) n.37945A>C | |
11 | g.2662054T= | CA1948247859 | KCNQ1,KCNQ1OT1 | c.1130T= (p.Leu377=) c.947T= (p.Leu316=) c.1487T= (p.Leu496=) c.1106T= (p.Leu369=) c.593T= (p.Leu198=) n.37945A= | |
11 | g.2662055G>A | CA472236318 | KCNQ1,KCNQ1OT1 | c.1131G>A (p.Leu377=) c.948G>A (p.Leu316=) c.1488G>A (p.Leu496=) c.1107G>A (p.Leu369=) c.594G>A (p.Leu198=) n.37944C>T | |
11 | g.2662055G>C | CA472236316 | KCNQ1,KCNQ1OT1 | c.1131G>C (p.Leu377=) c.948G>C (p.Leu316=) c.1488G>C (p.Leu496=) c.1107G>C (p.Leu369=) c.594G>C (p.Leu198=) n.37944C>G | |
11 | g.2662055G>T | CA472236317 | KCNQ1,KCNQ1OT1 | c.1131G>T (p.Leu377=) c.948G>T (p.Leu316=) c.1488G>T (p.Leu496=) c.1107G>T (p.Leu369=) c.594G>T (p.Leu198=) n.37944C>A | |
11 | g.2662056C>A | CA379479756 | KCNQ1,KCNQ1OT1 | c.1132C>A (p.Leu378Met) c.949C>A (p.Leu317Met) c.1489C>A (p.Leu497Met) c.1108C>A (p.Leu370Met) c.595C>A (p.Leu199Met) n.37943G>T | |
11 | g.2662056C= | CA1948247864 | KCNQ1,KCNQ1OT1 | c.1132C= (p.Leu378=) c.949C= (p.Leu317=) c.1489C= (p.Leu497=) c.1108C= (p.Leu370=) c.595C= (p.Leu199=) n.37943G= | |
11 | g.2662056C>G | CA379479757 | KCNQ1,KCNQ1OT1 | c.1132C>G (p.Leu378Val) c.949C>G (p.Leu317Val) c.1489C>G (p.Leu497Val) c.1108C>G (p.Leu370Val) c.595C>G (p.Leu199Val) n.37943G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662056C>T | CA472236319 | KCNQ1,KCNQ1OT1 | c.1132C>T (p.Leu378=) c.949C>T (p.Leu317=) c.1489C>T (p.Leu497=) c.1108C>T (p.Leu370=) c.595C>T (p.Leu199=) n.37943G>A | |
11 | g.2662057T>A | CA379479769 | KCNQ1,KCNQ1OT1 | c.1133T>A (p.Leu378Gln) c.950T>A (p.Leu317Gln) c.1490T>A (p.Leu497Gln) c.1109T>A (p.Leu370Gln) c.596T>A (p.Leu199Gln) n.37942A>T | |
11 | g.2662057T>C | CA379479767 | KCNQ1,KCNQ1OT1 | c.1133T>C (p.Leu378Pro) c.950T>C (p.Leu317Pro) c.1490T>C (p.Leu497Pro) c.1109T>C (p.Leu370Pro) c.596T>C (p.Leu199Pro) n.37942A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662057T>G | CA379479764 | KCNQ1,KCNQ1OT1 | c.1133T>G (p.Leu378Arg) c.950T>G (p.Leu317Arg) c.1490T>G (p.Leu497Arg) c.1109T>G (p.Leu370Arg) c.596T>G (p.Leu199Arg) n.37942A>C | |
11 | g.2662057T= | CA1948247866 | KCNQ1,KCNQ1OT1 | c.1133T= (p.Leu378=) c.950T= (p.Leu317=) c.1490T= (p.Leu497=) c.1109T= (p.Leu370=) c.596T= (p.Leu199=) n.37942A= | |
11 | g.2662058G>A | CA472236320 | KCNQ1,KCNQ1OT1 | c.1134G>A (p.Leu378=) c.951G>A (p.Leu317=) c.1491G>A (p.Leu497=) c.1110G>A (p.Leu370=) c.597G>A (p.Leu199=) n.37941C>T | |
11 | g.2662058G>C | CA472236321 | KCNQ1,KCNQ1OT1 | c.1134G>C (p.Leu378=) c.951G>C (p.Leu317=) c.1491G>C (p.Leu497=) c.1110G>C (p.Leu370=) c.597G>C (p.Leu199=) n.37941C>G | |
11 | g.2662058G>T | CA472236322 | KCNQ1,KCNQ1OT1 | c.1134G>T (p.Leu378=) c.951G>T (p.Leu317=) c.1491G>T (p.Leu497=) c.1110G>T (p.Leu370=) c.597G>T (p.Leu199=) n.37941C>A | |
11 | g.2662059A>C | CA379479771 | KCNQ1,KCNQ1OT1 | c.1135A>C (p.Thr379Pro) c.952A>C (p.Thr318Pro) c.1492A>C (p.Thr498Pro) c.1111A>C (p.Thr371Pro) c.598A>C (p.Thr200Pro) n.37940T>G | |
11 | g.2662059A>G | CA379479775 | KCNQ1,KCNQ1OT1 | c.1135A>G (p.Thr379Ala) c.952A>G (p.Thr318Ala) c.1492A>G (p.Thr498Ala) c.1111A>G (p.Thr371Ala) c.598A>G (p.Thr200Ala) n.37940T>C | |
11 | g.2662059A>T | CA379479773 | KCNQ1,KCNQ1OT1 | c.1135A>T (p.Thr379Ser) c.952A>T (p.Thr318Ser) c.1492A>T (p.Thr498Ser) c.1111A>T (p.Thr371Ser) c.598A>T (p.Thr200Ser) n.37940T>A | |
11 | g.2662060C>A | CA379479777 | KCNQ1,KCNQ1OT1 | c.1136C>A (p.Thr379Lys) c.953C>A (p.Thr318Lys) c.1493C>A (p.Thr498Lys) c.1112C>A (p.Thr371Lys) c.599C>A (p.Thr200Lys) n.37939G>T | |
11 | g.2662060C= | CA1948247871 | KCNQ1,KCNQ1OT1 | c.1136C= (p.Thr379=) c.953C= (p.Thr318=) c.1493C= (p.Thr498=) c.1112C= (p.Thr371=) c.599C= (p.Thr200=) n.37939G= | |
11 | g.2662060C>G | CA379479779 | KCNQ1,KCNQ1OT1 | c.1136C>G (p.Thr379Arg) c.953C>G (p.Thr318Arg) c.1493C>G (p.Thr498Arg) c.1112C>G (p.Thr371Arg) c.599C>G (p.Thr200Arg) n.37939G>C | |
11 | g.2662060C>T | CA379479780 | KCNQ1,KCNQ1OT1 | c.1136C>T (p.Thr379Ile) c.953C>T (p.Thr318Ile) c.1493C>T (p.Thr498Ile) c.1112C>T (p.Thr371Ile) c.599C>T (p.Thr200Ile) n.37939G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662061A>C | CA472236323 | KCNQ1,KCNQ1OT1 | c.1137A>C (p.Thr379=) c.954A>C (p.Thr318=) c.1494A>C (p.Thr498=) c.1113A>C (p.Thr371=) c.600A>C (p.Thr200=) n.37938T>G | |
11 | g.2662061A>G | CA472236324 | KCNQ1,KCNQ1OT1 | c.1137A>G (p.Thr379=) c.954A>G (p.Thr318=) c.1494A>G (p.Thr498=) c.1113A>G (p.Thr371=) c.600A>G (p.Thr200=) n.37938T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2662061A>T | CA472236325 | KCNQ1,KCNQ1OT1 | c.1137A>T (p.Thr379=) c.954A>T (p.Thr318=) c.1494A>T (p.Thr498=) c.1113A>T (p.Thr371=) c.600A>T (p.Thr200=) n.37938T>A | |
11 | g.2662062C>A | CA379479781 | KCNQ1,KCNQ1OT1 | c.1138C>A (p.Pro380Thr) c.955C>A (p.Pro319Thr) c.1495C>A (p.Pro499Thr) c.1114C>A (p.Pro372Thr) c.601C>A (p.Pro201Thr) n.37937G>T | gnomAD v4 |
11 | g.2662062C= | CA1948247874 | KCNQ1,KCNQ1OT1 | c.1138C= (p.Pro380=) c.955C= (p.Pro319=) c.1495C= (p.Pro499=) c.1114C= (p.Pro372=) c.601C= (p.Pro201=) n.37937G= | |
11 | g.2662062C>G | CA379479783 | KCNQ1,KCNQ1OT1 | c.1138C>G (p.Pro380Ala) c.955C>G (p.Pro319Ala) c.1495C>G (p.Pro499Ala) c.1114C>G (p.Pro372Ala) c.601C>G (p.Pro201Ala) n.37937G>C | gnomAD v4 |
11 | g.2662062C>T | CA030127 | KCNQ1,KCNQ1OT1 | c.1138C>T (p.Pro380Ser) c.955C>T (p.Pro319Ser) c.1495C>T (p.Pro499Ser) c.1114C>T (p.Pro372Ser) c.601C>T (p.Pro201Ser) n.37937G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662063C>A | CA379479786 | KCNQ1,KCNQ1OT1 | c.1139C>A (p.Pro380His) c.956C>A (p.Pro319His) c.1496C>A (p.Pro499His) c.1115C>A (p.Pro372His) c.602C>A (p.Pro201His) n.37936G>T | |
11 | g.2662063C>G | CA379479788 | KCNQ1,KCNQ1OT1 | c.1139C>G (p.Pro380Arg) c.956C>G (p.Pro319Arg) c.1496C>G (p.Pro499Arg) c.1115C>G (p.Pro372Arg) c.602C>G (p.Pro201Arg) n.37936G>C | |
11 | g.2662063C>T | CA379479790 | KCNQ1,KCNQ1OT1 | c.1139C>T (p.Pro380Leu) c.956C>T (p.Pro319Leu) c.1496C>T (p.Pro499Leu) c.1115C>T (p.Pro372Leu) c.602C>T (p.Pro201Leu) n.37936G>A | |
11 | g.2662063_2662064insAACCAACCAAA | CA2790204326 | KCNQ1,KCNQ1OT1 | c.1139_1140insAACCAACCAAA (p.Ile381ThrfsTer?) c.956_957insAACCAACCAAA (p.Ile320ThrfsTer?) c.1496_1497insAACCAACCAAA (p.Ile500ThrfsTer?) c.1115_1116insAACCAACCAAA (p.Ile373ThrfsTer?) c.602_603insAACCAACCAAA (p.Ile202ThrfsTer?) n.37935_37936insTTTGGTTGGTT | |
11 | g.2662064C>A | CA472236326 | KCNQ1,KCNQ1OT1 | c.1140C>A (p.Pro380=) c.957C>A (p.Pro319=) c.1497C>A (p.Pro499=) c.1116C>A (p.Pro372=) c.603C>A (p.Pro201=) n.37935G>T | |
11 | g.2662064C= | CA1948247879 | KCNQ1,KCNQ1OT1 | c.1140C= (p.Pro380=) c.957C= (p.Pro319=) c.1497C= (p.Pro499=) c.1116C= (p.Pro372=) c.603C= (p.Pro201=) n.37935G= | |
11 | g.2662064C>G | CA472236327 | KCNQ1,KCNQ1OT1 | c.1140C>G (p.Pro380=) c.957C>G (p.Pro319=) c.1497C>G (p.Pro499=) c.1116C>G (p.Pro372=) c.603C>G (p.Pro201=) n.37935G>C | |
11 | g.2662064C>T | CA472236328 | KCNQ1,KCNQ1OT1 | c.1140C>T (p.Pro380=) c.957C>T (p.Pro319=) c.1497C>T (p.Pro499=) c.1116C>T (p.Pro372=) c.603C>T (p.Pro201=) n.37935G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2662065A= | CA1948247893 | KCNQ1,KCNQ1OT1 | c.1141A= (p.Ile381=) c.958A= (p.Ile320=) c.1498A= (p.Ile500=) c.1117A= (p.Ile373=) c.604A= (p.Ile202=) n.37934T= | |
11 | g.2662065A>C | CA030145 | KCNQ1,KCNQ1OT1 | c.1141A>C (p.Ile381Leu) c.958A>C (p.Ile320Leu) c.1498A>C (p.Ile500Leu) c.1117A>C (p.Ile373Leu) c.604A>C (p.Ile202Leu) n.37934T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662065A>G | CA379479793 | KCNQ1,KCNQ1OT1 | c.1141A>G (p.Ile381Val) c.958A>G (p.Ile320Val) c.1498A>G (p.Ile500Val) c.1117A>G (p.Ile373Val) c.604A>G (p.Ile202Val) n.37934T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662065A>T | CA379479795 | KCNQ1,KCNQ1OT1 | c.1141A>T (p.Ile381Phe) c.958A>T (p.Ile320Phe) c.1498A>T (p.Ile500Phe) c.1117A>T (p.Ile373Phe) c.604A>T (p.Ile202Phe) n.37934T>A | |
11 | g.2662066del | CA2790204327 | KCNQ1,KCNQ1OT1 | c.1142del (p.Ile381ThrfsTer?) c.959del (p.Ile320ThrfsTer?) c.1499del (p.Ile500ThrfsTer?) c.1118del (p.Ile373ThrfsTer?) c.605del (p.Ile202ThrfsTer?) n.37933del | |
11 | g.2662066T>A | CA379479798 | KCNQ1,KCNQ1OT1 | c.1142T>A (p.Ile381Asn) c.959T>A (p.Ile320Asn) c.1499T>A (p.Ile500Asn) c.1118T>A (p.Ile373Asn) c.605T>A (p.Ile202Asn) n.37933A>T | |
11 | g.2662066T>C | CA379479803 | KCNQ1,KCNQ1OT1 | c.1142T>C (p.Ile381Thr) c.959T>C (p.Ile320Thr) c.1499T>C (p.Ile500Thr) c.1118T>C (p.Ile373Thr) c.605T>C (p.Ile202Thr) n.37933A>G | ClinVar |
11 | g.2662066T>G | CA379479800 | KCNQ1,KCNQ1OT1 | c.1142T>G (p.Ile381Ser) c.959T>G (p.Ile320Ser) c.1499T>G (p.Ile500Ser) c.1118T>G (p.Ile373Ser) c.605T>G (p.Ile202Ser) n.37933A>C | |
11 | g.2662067C>A | CA472236330 | KCNQ1,KCNQ1OT1 | c.1143C>A (p.Ile381=) c.960C>A (p.Ile320=) c.1500C>A (p.Ile500=) c.1119C>A (p.Ile373=) c.606C>A (p.Ile202=) n.37932G>T | |
11 | g.2662067C>G | CA379479805 | KCNQ1,KCNQ1OT1 | c.1143C>G (p.Ile381Met) c.960C>G (p.Ile320Met) c.1500C>G (p.Ile500Met) c.1119C>G (p.Ile373Met) c.606C>G (p.Ile202Met) n.37932G>C | |
11 | g.2662067C>T | CA472236329 | KCNQ1,KCNQ1OT1 | c.1143C>T (p.Ile381=) c.960C>T (p.Ile320=) c.1500C>T (p.Ile500=) c.1119C>T (p.Ile373=) c.606C>T (p.Ile202=) n.37932G>A | ClinVar |
11 | g.2662068A= | CA1948247902 | KCNQ1,KCNQ1OT1 | c.1144A= (p.Thr382=) c.961A= (p.Thr321=) c.1501A= (p.Thr501=) c.1120A= (p.Thr374=) c.607A= (p.Thr203=) n.37931T= | |
11 | g.2662068A>C | CA379479808 | KCNQ1,KCNQ1OT1 | c.1144A>C (p.Thr382Pro) c.961A>C (p.Thr321Pro) c.1501A>C (p.Thr501Pro) c.1120A>C (p.Thr374Pro) c.607A>C (p.Thr203Pro) n.37931T>G | |
11 | g.2662068A>G | CA030170 | KCNQ1,KCNQ1OT1 | c.1144A>G (p.Thr382Ala) c.961A>G (p.Thr321Ala) c.1501A>G (p.Thr501Ala) c.1120A>G (p.Thr374Ala) c.607A>G (p.Thr203Ala) n.37931T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662068A>T | CA379479810 | KCNQ1,KCNQ1OT1 | c.1144A>T (p.Thr382Ser) c.961A>T (p.Thr321Ser) c.1501A>T (p.Thr501Ser) c.1120A>T (p.Thr374Ser) c.607A>T (p.Thr203Ser) n.37931T>A | |
11 | g.2662069C>A | CA379479813 | KCNQ1,KCNQ1OT1 | c.1145C>A (p.Thr382Asn) c.962C>A (p.Thr321Asn) c.1502C>A (p.Thr501Asn) c.1121C>A (p.Thr374Asn) c.608C>A (p.Thr203Asn) n.37930G>T | gnomAD v4 |
11 | g.2662069C>G | CA379479815 | KCNQ1,KCNQ1OT1 | c.1145C>G (p.Thr382Ser) c.962C>G (p.Thr321Ser) c.1502C>G (p.Thr501Ser) c.1121C>G (p.Thr374Ser) c.608C>G (p.Thr203Ser) n.37930G>C | |
11 | g.2662069C>T | CA379479817 | KCNQ1,KCNQ1OT1 | c.1145C>T (p.Thr382Ile) c.962C>T (p.Thr321Ile) c.1502C>T (p.Thr501Ile) c.1121C>T (p.Thr374Ile) c.608C>T (p.Thr203Ile) n.37930G>A | gnomAD v4 |
11 | g.2662070C>A | CA472236331 | KCNQ1,KCNQ1OT1 | c.1146C>A (p.Thr382=) c.963C>A (p.Thr321=) c.1503C>A (p.Thr501=) c.1122C>A (p.Thr374=) c.609C>A (p.Thr203=) n.37929G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662070C= | CA1948247903 | KCNQ1,KCNQ1OT1 | c.1146C= (p.Thr382=) c.963C= (p.Thr321=) c.1503C= (p.Thr501=) c.1122C= (p.Thr374=) c.609C= (p.Thr203=) n.37929G= | |
11 | g.2662070C>G | CA472236332 | KCNQ1,KCNQ1OT1 | c.1146C>G (p.Thr382=) c.963C>G (p.Thr321=) c.1503C>G (p.Thr501=) c.1122C>G (p.Thr374=) c.609C>G (p.Thr203=) n.37929G>C | |
11 | g.2662070C>T | CA472236333 | KCNQ1,KCNQ1OT1 | c.1146C>T (p.Thr382=) c.963C>T (p.Thr321=) c.1503C>T (p.Thr501=) c.1122C>T (p.Thr374=) c.609C>T (p.Thr203=) n.37929G>A | |
11 | g.2662070_2662071insAAACACACCCAA | CA2790204328 | KCNQ1,KCNQ1OT1 | c.1146_1147insAAACACACCCAA (p.Thr382_His383insLysHisThrGln) c.963_964insAAACACACCCAA (p.Thr321_His322insLysHisThrGln) c.1503_1504insAAACACACCCAA (p.Thr501_His502insLysHisThrGln) c.1122_1123insAAACACACCCAA (p.Thr374_His375insLysHisThrGln) c.609_610insAAACACACCCAA (p.Thr203_His204insLysHisThrGln) n.37928_37929insTTGGGTGTGTTT | |
11 | g.2662071C>A | CA379479819 | KCNQ1,KCNQ1OT1 | c.1147C>A (p.His383Asn) c.964C>A (p.His322Asn) c.1504C>A (p.His502Asn) c.1123C>A (p.His375Asn) c.610C>A (p.His204Asn) n.37928G>T | |
11 | g.2662071C>G | CA379479822 | KCNQ1,KCNQ1OT1 | c.1147C>G (p.His383Asp) c.964C>G (p.His322Asp) c.1504C>G (p.His502Asp) c.1123C>G (p.His375Asp) c.610C>G (p.His204Asp) n.37928G>C | |
11 | g.2662071C>T | CA379479824 | KCNQ1,KCNQ1OT1 | c.1147C>T (p.His383Tyr) c.964C>T (p.His322Tyr) c.1504C>T (p.His502Tyr) c.1123C>T (p.His375Tyr) c.610C>T (p.His204Tyr) n.37928G>A | |
11 | g.2662072A= | CA1948247905 | KCNQ1,KCNQ1OT1 | c.1148A= (p.His383=) c.965A= (p.His322=) c.1505A= (p.His502=) c.1124A= (p.His375=) c.611A= (p.His204=) n.37927T= | |
11 | g.2662072A>C | CA379479829 | KCNQ1,KCNQ1OT1 | c.1148A>C (p.His383Pro) c.965A>C (p.His322Pro) c.1505A>C (p.His502Pro) c.1124A>C (p.His375Pro) c.611A>C (p.His204Pro) n.37927T>G | ClinVar |
11 | g.2662072A>G | CA379479831 | KCNQ1,KCNQ1OT1 | c.1148A>G (p.His383Arg) c.965A>G (p.His322Arg) c.1505A>G (p.His502Arg) c.1124A>G (p.His375Arg) c.611A>G (p.His204Arg) n.37927T>C | dbSNP |
11 | g.2662072A>T | CA379479827 | KCNQ1,KCNQ1OT1 | c.1148A>T (p.His383Leu) c.965A>T (p.His322Leu) c.1505A>T (p.His502Leu) c.1124A>T (p.His375Leu) c.611A>T (p.His204Leu) n.37927T>A | |
11 | g.2662072dup | CA2790204329 | KCNQ1,KCNQ1OT1 | c.1148dup (p.His383GlnfsTer14) c.965dup (p.His322GlnfsTer14) c.1505dup (p.His502GlnfsTer14) c.1124dup (p.His375GlnfsTer14) c.611dup (p.His204GlnfsTer14) n.37927dup | |
11 | g.2662072_2662073insAACACACC | CA2790204330 | KCNQ1,KCNQ1OT1 | c.1148_1149insAACACACC (p.His383GlnfsTer?) c.965_966insAACACACC (p.His322GlnfsTer?) c.1505_1506insAACACACC (p.His502GlnfsTer?) c.1124_1125insAACACACC (p.His375GlnfsTer?) c.611_612insAACACACC (p.His204GlnfsTer?) n.37926_37927insGGTGTGTT | |
11 | g.2662073C>A | CA379479833 | KCNQ1,KCNQ1OT1 | c.1149C>A (p.His383Gln) c.966C>A (p.His322Gln) c.1506C>A (p.His502Gln) c.1125C>A (p.His375Gln) c.612C>A (p.His204Gln) n.37926G>T | |
11 | g.2662073C= | CA1948247909 | KCNQ1,KCNQ1OT1 | c.1149C= (p.His383=) c.966C= (p.His322=) c.1506C= (p.His502=) c.1125C= (p.His375=) c.612C= (p.His204=) n.37926G= | |
11 | g.2662073C>G | CA379479835 | KCNQ1,KCNQ1OT1 | c.1149C>G (p.His383Gln) c.966C>G (p.His322Gln) c.1506C>G (p.His502Gln) c.1125C>G (p.His375Gln) c.612C>G (p.His204Gln) n.37926G>C | |
11 | g.2662073C>T | CA472236334 | KCNQ1,KCNQ1OT1 | c.1149C>T (p.His383=) c.966C>T (p.His322=) c.1506C>T (p.His502=) c.1125C>T (p.His375=) c.612C>T (p.His204=) n.37926G>A | ClinVar dbSNP |
11 | g.2662074A>C | CA379479838 | KCNQ1,KCNQ1OT1 | c.1150A>C (p.Ile384Leu) c.967A>C (p.Ile323Leu) c.1507A>C (p.Ile503Leu) c.1126A>C (p.Ile376Leu) c.613A>C (p.Ile205Leu) n.37925T>G | |
11 | g.2662074A>G | CA379479840 | KCNQ1,KCNQ1OT1 | c.1150A>G (p.Ile384Val) c.967A>G (p.Ile323Val) c.1507A>G (p.Ile503Val) c.1126A>G (p.Ile376Val) c.613A>G (p.Ile205Val) n.37925T>C | |
11 | g.2662074A>T | CA379479841 | KCNQ1,KCNQ1OT1 | c.1150A>T (p.Ile384Phe) c.967A>T (p.Ile323Phe) c.1507A>T (p.Ile503Phe) c.1126A>T (p.Ile376Phe) c.613A>T (p.Ile205Phe) n.37925T>A | |
11 | g.2662075T>A | CA379479843 | KCNQ1,KCNQ1OT1 | c.1151T>A (p.Ile384Asn) c.968T>A (p.Ile323Asn) c.1508T>A (p.Ile503Asn) c.1127T>A (p.Ile376Asn) c.614T>A (p.Ile205Asn) n.37924A>T | |
11 | g.2662075T>C | CA379479845 | KCNQ1,KCNQ1OT1 | c.1151T>C (p.Ile384Thr) c.968T>C (p.Ile323Thr) c.1508T>C (p.Ile503Thr) c.1127T>C (p.Ile376Thr) c.614T>C (p.Ile205Thr) n.37924A>G | |
11 | g.2662075T>G | CA379479846 | KCNQ1,KCNQ1OT1 | c.1151T>G (p.Ile384Ser) c.968T>G (p.Ile323Ser) c.1508T>G (p.Ile503Ser) c.1127T>G (p.Ile376Ser) c.614T>G (p.Ile205Ser) n.37924A>C | |
11 | g.2662075_2662077del | CA2790204331 | KCNQ1,KCNQ1OT1 | c.1151_1153del (p.Ile384_Ser385delinsThr) c.968_970del (p.Ile323_Ser324delinsThr) c.1508_1510del (p.Ile503_Ser504delinsThr) c.1127_1129del (p.Ile376_Ser377delinsThr) c.614_616del (p.Ile205_Ser206delinsThr) n.37922_37924del | |
11 | g.2662076C>A | CA472236335 | KCNQ1,KCNQ1OT1 | c.1152C>A (p.Ile384=) c.969C>A (p.Ile323=) c.1509C>A (p.Ile503=) c.1128C>A (p.Ile376=) c.615C>A (p.Ile205=) n.37923G>T | |
11 | g.2662076C>G | CA379479849 | KCNQ1,KCNQ1OT1 | c.1152C>G (p.Ile384Met) c.969C>G (p.Ile323Met) c.1509C>G (p.Ile503Met) c.1128C>G (p.Ile376Met) c.615C>G (p.Ile205Met) n.37923G>C | |
11 | g.2662076C>T | CA472236336 | KCNQ1,KCNQ1OT1 | c.1152C>T (p.Ile384=) c.969C>T (p.Ile323=) c.1509C>T (p.Ile503=) c.1128C>T (p.Ile376=) c.615C>T (p.Ile205=) n.37923G>A | gnomAD v4 |
11 | g.2662077T>A | CA379479850 | KCNQ1,KCNQ1OT1 | c.1153T>A (p.Ser385Thr) c.970T>A (p.Ser324Thr) c.1510T>A (p.Ser504Thr) c.1129T>A (p.Ser377Thr) c.616T>A (p.Ser206Thr) n.37922A>T | |
11 | g.2662077T>C | CA379479852 | KCNQ1,KCNQ1OT1 | c.1153T>C (p.Ser385Pro) c.970T>C (p.Ser324Pro) c.1510T>C (p.Ser504Pro) c.1129T>C (p.Ser377Pro) c.616T>C (p.Ser206Pro) n.37922A>G | |
11 | g.2662077T>G | CA379479854 | KCNQ1,KCNQ1OT1 | c.1153T>G (p.Ser385Ala) c.970T>G (p.Ser324Ala) c.1510T>G (p.Ser504Ala) c.1129T>G (p.Ser377Ala) c.616T>G (p.Ser206Ala) n.37922A>C | |
11 | g.2662077_2662079delinsTCA | CA1948247914 | KCNQ1,KCNQ1OT1 | c.1153_1155delinsTCA (p.Ser385=) c.970_972delinsTCA (p.Ser324=) c.1510_1512delinsTCA (p.Ser504=) c.1129_1131delinsTCA (p.Ser377=) c.616_618delinsTCA (p.Ser206=) n.37920_37922delinsTGA | |
11 | g.2662078C>A | CA379479859 | KCNQ1,KCNQ1OT1 | c.1154C>A (p.Ser385Ter) c.971C>A (p.Ser324Ter) c.1511C>A (p.Ser504Ter) c.1130C>A (p.Ser377Ter) c.617C>A (p.Ser206Ter) n.37921G>T | |
11 | g.2662078C>G | CA379479861 | KCNQ1,KCNQ1OT1 | c.1154C>G (p.Ser385Ter) c.971C>G (p.Ser324Ter) c.1511C>G (p.Ser504Ter) c.1130C>G (p.Ser377Ter) c.617C>G (p.Ser206Ter) n.37921G>C | |
11 | g.2662078C>T | CA379479858 | KCNQ1,KCNQ1OT1 | c.1154C>T (p.Ser385Leu) c.971C>T (p.Ser324Leu) c.1511C>T (p.Ser504Leu) c.1130C>T (p.Ser377Leu) c.617C>T (p.Ser206Leu) n.37921G>A | |
11 | g.2662080_2662081del | CA005811 | KCNQ1,KCNQ1OT1 | c.1156_1157del (p.Gln386AlafsTer10) c.973_974del (p.Gln325AlafsTer10) c.1513_1514del (p.Gln505AlafsTer10) c.1132_1133del (p.Gln378AlafsTer10) c.619_620del (p.Gln207AlafsTer10) n.37920_37921del | ClinVar dbSNP |
11 | g.2662079A= | CA1948247925 | KCNQ1,KCNQ1OT1 | c.1155A= (p.Ser385=) c.972A= (p.Ser324=) c.1512A= (p.Ser504=) c.1131A= (p.Ser377=) c.618A= (p.Ser206=) n.37920T= | |
11 | g.2662079A>C | CA472236339 | KCNQ1,KCNQ1OT1 | c.1155A>C (p.Ser385=) c.972A>C (p.Ser324=) c.1512A>C (p.Ser504=) c.1131A>C (p.Ser377=) c.618A>C (p.Ser206=) n.37920T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662079A>G | CA472236337 | KCNQ1,KCNQ1OT1 | c.1155A>G (p.Ser385=) c.972A>G (p.Ser324=) c.1512A>G (p.Ser504=) c.1131A>G (p.Ser377=) c.618A>G (p.Ser206=) n.37920T>C | gnomAD v4 |
11 | g.2662079A>T | CA472236338 | KCNQ1,KCNQ1OT1 | c.1155A>T (p.Ser385=) c.972A>T (p.Ser324=) c.1512A>T (p.Ser504=) c.1131A>T (p.Ser377=) c.618A>T (p.Ser206=) n.37920T>A | |
11 | g.2662080C>A | CA379479864 | KCNQ1,KCNQ1OT1 | c.1156C>A (p.Gln386Lys) c.973C>A (p.Gln325Lys) c.1513C>A (p.Gln505Lys) c.1132C>A (p.Gln378Lys) c.619C>A (p.Gln207Lys) n.37919G>T | gnomAD v4 |
11 | g.2662080C= | CA1948247930 | KCNQ1,KCNQ1OT1 | c.1156C= (p.Gln386=) c.973C= (p.Gln325=) c.1513C= (p.Gln505=) c.1132C= (p.Gln378=) c.619C= (p.Gln207=) n.37919G= | |
11 | g.2662080C>G | CA379479865 | KCNQ1,KCNQ1OT1 | c.1156C>G (p.Gln386Glu) c.973C>G (p.Gln325Glu) c.1513C>G (p.Gln505Glu) c.1132C>G (p.Gln378Glu) c.619C>G (p.Gln207Glu) n.37919G>C | |
11 | g.2662080C>T | CA005820 | KCNQ1,KCNQ1OT1 | c.1156C>T (p.Gln386Ter) c.973C>T (p.Gln325Ter) c.1513C>T (p.Gln505Ter) c.1132C>T (p.Gln378Ter) c.619C>T (p.Gln207Ter) n.37919G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662080_2662081delinsTGTGC | CA2695212963 | KCNQ1,KCNQ1OT1 | c.1156_1157delinsTGTGC (p.Gln386delinsCysAla) c.973_974delinsTGTGC (p.Gln325delinsCysAla) c.1513_1514delinsTGTGC (p.Gln505delinsCysAla) c.1132_1133delinsTGTGC (p.Gln378delinsCysAla) c.619_620delinsTGTGC (p.Gln207delinsCysAla) n.37918_37919delinsGCACA | |
11 | g.2662081A= | CA1948247948 | KCNQ1,KCNQ1OT1 | c.1157A= (p.Gln386=) c.974A= (p.Gln325=) c.1514A= (p.Gln505=) c.1133A= (p.Gln378=) c.620A= (p.Gln207=) n.37918T= | |
11 | g.2662081A>C | CA379479869 | KCNQ1,KCNQ1OT1 | c.1157A>C (p.Gln386Pro) c.974A>C (p.Gln325Pro) c.1514A>C (p.Gln505Pro) c.1133A>C (p.Gln378Pro) c.620A>C (p.Gln207Pro) n.37918T>G | |
11 | g.2662081A>G | CA030431 | KCNQ1,KCNQ1OT1 | c.1157A>G (p.Gln386Arg) c.974A>G (p.Gln325Arg) c.1514A>G (p.Gln505Arg) c.1133A>G (p.Gln378Arg) c.620A>G (p.Gln207Arg) n.37918T>C | dbSNP ExAC gnomAD v2 |
11 | g.2662081A>T | CA379479873 | KCNQ1,KCNQ1OT1 | c.1157A>T (p.Gln386Leu) c.974A>T (p.Gln325Leu) c.1514A>T (p.Gln505Leu) c.1133A>T (p.Gln378Leu) c.620A>T (p.Gln207Leu) n.37918T>A | |
11 | g.2662082G>A | CA005829 | KCNQ1,KCNQ1OT1 | c.1157+1G>A (n.1157+1G>A) c.974+1G>A (n.974+1G>A) c.1514+1G>A (n.1514+1G>A) c.1133+1G>A (n.1133+1G>A) c.620+1G>A (n.620+1G>A) n.37917C>T | ClinVar dbSNP |
11 | g.2662082G>C | CA379479878 | KCNQ1,KCNQ1OT1 | c.1157+1G>C (n.1157+1G>C) c.974+1G>C (n.974+1G>C) c.1514+1G>C (n.1514+1G>C) c.1133+1G>C (n.1133+1G>C) c.620+1G>C (n.620+1G>C) n.37917C>G | |
11 | g.2662082G= | CA1948247950 | KCNQ1,KCNQ1OT1 | c.1157+1G= (n.1157+1G=) c.974+1G= (n.974+1G=) c.1514+1G= (n.1514+1G=) c.1133+1G= (n.1133+1G=) c.620+1G= (n.620+1G=) n.37917C= | |
11 | g.2662082G>T | CA379479877 | KCNQ1,KCNQ1OT1 | c.1157+1G>T (n.1157+1G>T) c.974+1G>T (n.974+1G>T) c.1514+1G>T (n.1514+1G>T) c.1133+1G>T (n.1133+1G>T) c.620+1G>T (n.620+1G>T) n.37917C>A | |
11 | g.2662083T>A | CA379479880 | KCNQ1,KCNQ1OT1 | c.1157+2T>A (n.1157+2T>A) c.974+2T>A (n.974+2T>A) c.1514+2T>A (n.1514+2T>A) c.1133+2T>A (n.1133+2T>A) c.620+2T>A (n.620+2T>A) n.37916A>T | |
11 | g.2662083T>C | CA379479882 | KCNQ1,KCNQ1OT1 | c.1157+2T>C (n.1157+2T>C) c.974+2T>C (n.974+2T>C) c.1514+2T>C (n.1514+2T>C) c.1133+2T>C (n.1133+2T>C) c.620+2T>C (n.620+2T>C) n.37916A>G | |
11 | g.2662083T>G | CA379479884 | KCNQ1,KCNQ1OT1 | c.1157+2T>G (n.1157+2T>G) c.974+2T>G (n.974+2T>G) c.1514+2T>G (n.1514+2T>G) c.1133+2T>G (n.1133+2T>G) c.620+2T>G (n.620+2T>G) n.37916A>C | |
11 | g.2662084G>A | CA030306 | KCNQ1,KCNQ1OT1 | c.1157+3G>A (n.1157+3G>A) c.974+3G>A (n.974+3G>A) c.1514+3G>A (n.1514+3G>A) c.1133+3G>A (n.1133+3G>A) c.620+3G>A (n.620+3G>A) n.37915C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662084G>C | CA472236340 | KCNQ1,KCNQ1OT1 | c.1157+3G>C (n.1157+3G>C) c.974+3G>C (n.974+3G>C) c.1514+3G>C (n.1514+3G>C) c.1133+3G>C (n.1133+3G>C) c.620+3G>C (n.620+3G>C) n.37915C>G | |
11 | g.2662084G= | CA1948247956 | KCNQ1,KCNQ1OT1 | c.1157+3G= (n.1157+3G=) c.974+3G= (n.974+3G=) c.1514+3G= (n.1514+3G=) c.1133+3G= (n.1133+3G=) c.620+3G= (n.620+3G=) n.37915C= | |
11 | g.2662084G>T | CA472236341 | KCNQ1,KCNQ1OT1 | c.1157+3G>T (n.1157+3G>T) c.974+3G>T (n.974+3G>T) c.1514+3G>T (n.1514+3G>T) c.1133+3G>T (n.1133+3G>T) c.620+3G>T (n.620+3G>T) n.37915C>A | |
11 | g.2662085A>C | CA472236342 | KCNQ1,KCNQ1OT1 | c.1157+4A>C (n.1157+4A>C) c.974+4A>C (n.974+4A>C) c.1514+4A>C (n.1514+4A>C) c.1133+4A>C (n.1133+4A>C) c.620+4A>C (n.620+4A>C) n.37914T>G | |
11 | g.2662085A>G | CA472236343 | KCNQ1,KCNQ1OT1 | c.1157+4A>G (n.1157+4A>G) c.974+4A>G (n.974+4A>G) c.1514+4A>G (n.1514+4A>G) c.1133+4A>G (n.1133+4A>G) c.620+4A>G (n.620+4A>G) n.37914T>C | |
11 | g.2662085A>T | CA472236344 | KCNQ1,KCNQ1OT1 | c.1157+4A>T (n.1157+4A>T) c.974+4A>T (n.974+4A>T) c.1514+4A>T (n.1514+4A>T) c.1133+4A>T (n.1133+4A>T) c.620+4A>T (n.620+4A>T) n.37914T>A | |
11 | g.2662086G>A | CA472236345 | KCNQ1,KCNQ1OT1 | c.1157+5G>A (n.1157+5G>A) c.974+5G>A (n.974+5G>A) c.1514+5G>A (n.1514+5G>A) c.1133+5G>A (n.1133+5G>A) c.620+5G>A (n.620+5G>A) n.37913C>T | ClinVar dbSNP |
11 | g.2662086G>C | CA472236346 | KCNQ1,KCNQ1OT1 | c.1157+5G>C (n.1157+5G>C) c.974+5G>C (n.974+5G>C) c.1514+5G>C (n.1514+5G>C) c.1133+5G>C (n.1133+5G>C) c.620+5G>C (n.620+5G>C) n.37913C>G | |
11 | g.2662086G>T | CA472236347 | KCNQ1,KCNQ1OT1 | c.1157+5G>T (n.1157+5G>T) c.974+5G>T (n.974+5G>T) c.1514+5G>T (n.1514+5G>T) c.1133+5G>T (n.1133+5G>T) c.620+5G>T (n.620+5G>T) n.37913C>A | |
11 | g.2662087T>A | CA472236348 | KCNQ1,KCNQ1OT1 | c.1157+6T>A (n.1157+6T>A) c.974+6T>A (n.974+6T>A) c.1514+6T>A (n.1514+6T>A) c.1133+6T>A (n.1133+6T>A) c.620+6T>A (n.620+6T>A) n.37912A>T | |
11 | g.2662087T>C | CA472236349 | KCNQ1,KCNQ1OT1 | c.1157+6T>C (n.1157+6T>C) c.974+6T>C (n.974+6T>C) c.1514+6T>C (n.1514+6T>C) c.1133+6T>C (n.1133+6T>C) c.620+6T>C (n.620+6T>C) n.37912A>G | gnomAD v4 |
11 | g.2662087T>G | CA472236350 | KCNQ1,KCNQ1OT1 | c.1157+6T>G (n.1157+6T>G) c.974+6T>G (n.974+6T>G) c.1514+6T>G (n.1514+6T>G) c.1133+6T>G (n.1133+6T>G) c.620+6T>G (n.620+6T>G) n.37912A>C | |
11 | g.2662088G>A | CA472236352 | KCNQ1,KCNQ1OT1 | c.1157+7G>A (n.1157+7G>A) c.974+7G>A (n.974+7G>A) c.1514+7G>A (n.1514+7G>A) c.1133+7G>A (n.1133+7G>A) c.620+7G>A (n.620+7G>A) n.37911C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662088G>C | CA472236351 | KCNQ1,KCNQ1OT1 | c.1157+7G>C (n.1157+7G>C) c.974+7G>C (n.974+7G>C) c.1514+7G>C (n.1514+7G>C) c.1133+7G>C (n.1133+7G>C) c.620+7G>C (n.620+7G>C) n.37911C>G | |
11 | g.2662088G= | CA1948247965 | KCNQ1,KCNQ1OT1 | c.1157+7G= (n.1157+7G=) c.974+7G= (n.974+7G=) c.1514+7G= (n.1514+7G=) c.1133+7G= (n.1133+7G=) c.620+7G= (n.620+7G=) n.37911C= | |
11 | g.2662088G>T | CA030418 | KCNQ1,KCNQ1OT1 | c.1157+7G>T (n.1157+7G>T) c.974+7G>T (n.974+7G>T) c.1514+7G>T (n.1514+7G>T) c.1133+7G>T (n.1133+7G>T) c.620+7G>T (n.620+7G>T) n.37911C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662089C>A | CA472236353 | KCNQ1,KCNQ1OT1 | c.1157+8C>A (n.1157+8C>A) c.974+8C>A (n.974+8C>A) c.1514+8C>A (n.1514+8C>A) c.1133+8C>A (n.1133+8C>A) c.620+8C>A (n.620+8C>A) n.37910G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662089C= | CA1948247976 | KCNQ1,KCNQ1OT1 | c.1157+8C= (n.1157+8C=) c.974+8C= (n.974+8C=) c.1514+8C= (n.1514+8C=) c.1133+8C= (n.1133+8C=) c.620+8C= (n.620+8C=) n.37910G= | |
11 | g.2662089C>G | CA472236355 | KCNQ1,KCNQ1OT1 | c.1157+8C>G (n.1157+8C>G) c.974+8C>G (n.974+8C>G) c.1514+8C>G (n.1514+8C>G) c.1133+8C>G (n.1133+8C>G) c.620+8C>G (n.620+8C>G) n.37910G>C | dbSNP |
11 | g.2662089C>T | CA472236354 | KCNQ1,KCNQ1OT1 | c.1157+8C>T (n.1157+8C>T) c.974+8C>T (n.974+8C>T) c.1514+8C>T (n.1514+8C>T) c.1133+8C>T (n.1133+8C>T) c.620+8C>T (n.620+8C>T) n.37910G>A | |
11 | g.2662090C>A | CA472236356 | KCNQ1,KCNQ1OT1 | c.1157+9C>A (n.1157+9C>A) c.974+9C>A (n.974+9C>A) c.1514+9C>A (n.1514+9C>A) c.1133+9C>A (n.1133+9C>A) c.620+9C>A (n.620+9C>A) n.37909G>T | |
11 | g.2662090C= | CA1948247983 | KCNQ1,KCNQ1OT1 | c.1157+9C= (n.1157+9C=) c.974+9C= (n.974+9C=) c.1514+9C= (n.1514+9C=) c.1133+9C= (n.1133+9C=) c.620+9C= (n.620+9C=) n.37909G= | |
11 | g.2662090C>G | CA472236357 | KCNQ1,KCNQ1OT1 | c.1157+9C>G (n.1157+9C>G) c.974+9C>G (n.974+9C>G) c.1514+9C>G (n.1514+9C>G) c.1133+9C>G (n.1133+9C>G) c.620+9C>G (n.620+9C>G) n.37909G>C | |
11 | g.2662090C>T | CA10630689 | KCNQ1,KCNQ1OT1 | c.1157+9C>T (n.1157+9C>T) c.974+9C>T (n.974+9C>T) c.1514+9C>T (n.1514+9C>T) c.1133+9C>T (n.1133+9C>T) c.620+9C>T (n.620+9C>T) n.37909G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662091T>A | CA472236358 | KCNQ1,KCNQ1OT1 | c.1157+10T>A (n.1157+10T>A) c.974+10T>A (n.974+10T>A) c.1514+10T>A (n.1514+10T>A) c.1133+10T>A (n.1133+10T>A) c.620+10T>A (n.620+10T>A) n.37908A>T | |
11 | g.2662091T>C | CA472236359 | KCNQ1,KCNQ1OT1 | c.1157+10T>C (n.1157+10T>C) c.974+10T>C (n.974+10T>C) c.1514+10T>C (n.1514+10T>C) c.1133+10T>C (n.1133+10T>C) c.620+10T>C (n.620+10T>C) n.37908A>G | ClinVar dbSNP gnomAD v4 |
11 | g.2662091T>G | CA472236360 | KCNQ1,KCNQ1OT1 | c.1157+10T>G (n.1157+10T>G) c.974+10T>G (n.974+10T>G) c.1514+10T>G (n.1514+10T>G) c.1133+10T>G (n.1133+10T>G) c.620+10T>G (n.620+10T>G) n.37908A>C | |
11 | g.2662092A= | CA1948247990 | KCNQ1,KCNQ1OT1 | c.1157+11A= (n.1157+11A=) c.974+11A= (n.974+11A=) c.1514+11A= (n.1514+11A=) c.1133+11A= (n.1133+11A=) c.620+11A= (n.620+11A=) n.37907T= | |
11 | g.2662092A>C | CA216170918 | KCNQ1,KCNQ1OT1 | c.1157+11A>C (n.1157+11A>C) c.974+11A>C (n.974+11A>C) c.1514+11A>C (n.1514+11A>C) c.1133+11A>C (n.1133+11A>C) c.620+11A>C (n.620+11A>C) n.37907T>G | dbSNP |
11 | g.2662092A>G | CA472236361 | KCNQ1,KCNQ1OT1 | c.1157+11A>G (n.1157+11A>G) c.974+11A>G (n.974+11A>G) c.1514+11A>G (n.1514+11A>G) c.1133+11A>G (n.1133+11A>G) c.620+11A>G (n.620+11A>G) n.37907T>C | gnomAD v4 |
11 | g.2662092A>T | CA472236362 | KCNQ1,KCNQ1OT1 | c.1157+11A>T (n.1157+11A>T) c.974+11A>T (n.974+11A>T) c.1514+11A>T (n.1514+11A>T) c.1133+11A>T (n.1133+11A>T) c.620+11A>T (n.620+11A>T) n.37907T>A | |
11 | g.2662093C>A | CA472236363 | KCNQ1,KCNQ1OT1 | c.1157+12C>A (n.1157+12C>A) c.974+12C>A (n.974+12C>A) c.1514+12C>A (n.1514+12C>A) c.1133+12C>A (n.1133+12C>A) c.620+12C>A (n.620+12C>A) n.37906G>T | |
11 | g.2662093C= | CA1948247998 | KCNQ1,KCNQ1OT1 | c.1157+12C= (n.1157+12C=) c.974+12C= (n.974+12C=) c.1514+12C= (n.1514+12C=) c.1133+12C= (n.1133+12C=) c.620+12C= (n.620+12C=) n.37906G= | |
11 | g.2662093C>G | CA472236364 | KCNQ1,KCNQ1OT1 | c.1157+12C>G (n.1157+12C>G) c.974+12C>G (n.974+12C>G) c.1514+12C>G (n.1514+12C>G) c.1133+12C>G (n.1133+12C>G) c.620+12C>G (n.620+12C>G) n.37906G>C | |
11 | g.2662093C>T | CA216170926 | KCNQ1,KCNQ1OT1 | c.1157+12C>T (n.1157+12C>T) c.974+12C>T (n.974+12C>T) c.1514+12C>T (n.1514+12C>T) c.1133+12C>T (n.1133+12C>T) c.620+12C>T (n.620+12C>T) n.37906G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662094A= | CA1948248005 | KCNQ1,KCNQ1OT1 | c.1157+13A= (n.1157+13A=) c.974+13A= (n.974+13A=) c.1514+13A= (n.1514+13A=) c.1133+13A= (n.1133+13A=) c.620+13A= (n.620+13A=) n.37905T= | |
11 | g.2662094A>C | CA472236365 | KCNQ1,KCNQ1OT1 | c.1157+13A>C (n.1157+13A>C) c.974+13A>C (n.974+13A>C) c.1514+13A>C (n.1514+13A>C) c.1133+13A>C (n.1133+13A>C) c.620+13A>C (n.620+13A>C) n.37905T>G | gnomAD v4 |
11 | g.2662094A>G | CA030190 | KCNQ1,KCNQ1OT1 | c.1157+13A>G (n.1157+13A>G) c.974+13A>G (n.974+13A>G) c.1514+13A>G (n.1514+13A>G) c.1133+13A>G (n.1133+13A>G) c.620+13A>G (n.620+13A>G) n.37905T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662094A>T | CA472236366 | KCNQ1,KCNQ1OT1 | c.1157+13A>T (n.1157+13A>T) c.974+13A>T (n.974+13A>T) c.1514+13A>T (n.1514+13A>T) c.1133+13A>T (n.1133+13A>T) c.620+13A>T (n.620+13A>T) n.37905T>A | gnomAD v4 |
11 | g.2662095T>A | CA472236367 | KCNQ1,KCNQ1OT1 | c.1157+14T>A (n.1157+14T>A) c.974+14T>A (n.974+14T>A) c.1514+14T>A (n.1514+14T>A) c.1133+14T>A (n.1133+14T>A) c.620+14T>A (n.620+14T>A) n.37904A>T | |
11 | g.2662095T>C | CA472236368 | KCNQ1,KCNQ1OT1 | c.1157+14T>C (n.1157+14T>C) c.974+14T>C (n.974+14T>C) c.1514+14T>C (n.1514+14T>C) c.1133+14T>C (n.1133+14T>C) c.620+14T>C (n.620+14T>C) n.37904A>G | gnomAD v4 |
11 | g.2662095T>G | CA472236369 | KCNQ1,KCNQ1OT1 | c.1157+14T>G (n.1157+14T>G) c.974+14T>G (n.974+14T>G) c.1514+14T>G (n.1514+14T>G) c.1133+14T>G (n.1133+14T>G) c.620+14T>G (n.620+14T>G) n.37904A>C | |
11 | g.2662096G>A | CA472236370 | KCNQ1,KCNQ1OT1 | c.1157+15G>A (n.1157+15G>A) c.974+15G>A (n.974+15G>A) c.1514+15G>A (n.1514+15G>A) c.1133+15G>A (n.1133+15G>A) c.620+15G>A (n.620+15G>A) n.37903C>T | |
11 | g.2662096G>C | CA472236371 | KCNQ1,KCNQ1OT1 | c.1157+15G>C (n.1157+15G>C) c.974+15G>C (n.974+15G>C) c.1514+15G>C (n.1514+15G>C) c.1133+15G>C (n.1133+15G>C) c.620+15G>C (n.620+15G>C) n.37903C>G | |
11 | g.2662096G>T | CA472236372 | KCNQ1,KCNQ1OT1 | c.1157+15G>T (n.1157+15G>T) c.974+15G>T (n.974+15G>T) c.1514+15G>T (n.1514+15G>T) c.1133+15G>T (n.1133+15G>T) c.620+15G>T (n.620+15G>T) n.37903C>A | |
11 | g.2662099_2662102dup | CA2612007067 | KCNQ1,KCNQ1OT1 | c.1157+18_1157+21dup (n.1157+18_1157+21dup) c.974+18_974+21dup (n.974+18_974+21dup) c.1514+18_1514+21dup (n.1514+18_1514+21dup) c.1133+18_1133+21dup (n.1133+18_1133+21dup) c.620+18_620+21dup (n.620+18_620+21dup) n.37900_37903dup | gnomAD v4 |
11 | g.2662097T>A | CA472236373 | KCNQ1,KCNQ1OT1 | c.1157+16T>A (n.1157+16T>A) c.974+16T>A (n.974+16T>A) c.1514+16T>A (n.1514+16T>A) c.1133+16T>A (n.1133+16T>A) c.620+16T>A (n.620+16T>A) n.37902A>T | |
11 | g.2662097T>C | CA472236375 | KCNQ1,KCNQ1OT1 | c.1157+16T>C (n.1157+16T>C) c.974+16T>C (n.974+16T>C) c.1514+16T>C (n.1514+16T>C) c.1133+16T>C (n.1133+16T>C) c.620+16T>C (n.620+16T>C) n.37902A>G | |
11 | g.2662097T>G | CA472236374 | KCNQ1,KCNQ1OT1 | c.1157+16T>G (n.1157+16T>G) c.974+16T>G (n.974+16T>G) c.1514+16T>G (n.1514+16T>G) c.1133+16T>G (n.1133+16T>G) c.620+16T>G (n.620+16T>G) n.37902A>C | |
11 | g.2662098G>A | CA472236376 | KCNQ1,KCNQ1OT1 | c.1157+17G>A (n.1157+17G>A) c.974+17G>A (n.974+17G>A) c.1514+17G>A (n.1514+17G>A) c.1133+17G>A (n.1133+17G>A) c.620+17G>A (n.620+17G>A) n.37901C>T | dbSNP gnomAD v4 |
11 | g.2662098G>C | CA472236377 | KCNQ1,KCNQ1OT1 | c.1157+17G>C (n.1157+17G>C) c.974+17G>C (n.974+17G>C) c.1514+17G>C (n.1514+17G>C) c.1133+17G>C (n.1133+17G>C) c.620+17G>C (n.620+17G>C) n.37901C>G | gnomAD v4 |
11 | g.2662098G= | CA1948248010 | KCNQ1,KCNQ1OT1 | c.1157+17G= (n.1157+17G=) c.974+17G= (n.974+17G=) c.1514+17G= (n.1514+17G=) c.1133+17G= (n.1133+17G=) c.620+17G= (n.620+17G=) n.37901C= | |
11 | g.2662098G>T | CA216170935 | KCNQ1,KCNQ1OT1 | c.1157+17G>T (n.1157+17G>T) c.974+17G>T (n.974+17G>T) c.1514+17G>T (n.1514+17G>T) c.1133+17G>T (n.1133+17G>T) c.620+17G>T (n.620+17G>T) n.37901C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662100_2662108del | CA2612007068 | KCNQ1,KCNQ1OT1 | c.1157+19_1157+27del (n.1157+19_1157+27del) c.974+19_974+27del (n.974+19_974+27del) c.1514+19_1514+27del (n.1514+19_1514+27del) c.1133+19_1133+27del (n.1133+19_1133+27del) c.620+19_620+27del (n.620+19_620+27del) n.37893_37901del | gnomAD v4 |
11 | g.2662099C>A | CA472236378 | KCNQ1,KCNQ1OT1 | c.1157+18C>A (n.1157+18C>A) c.974+18C>A (n.974+18C>A) c.1514+18C>A (n.1514+18C>A) c.1133+18C>A (n.1133+18C>A) c.620+18C>A (n.620+18C>A) n.37900G>T | |
11 | g.2662099C= | CA1948248013 | KCNQ1,KCNQ1OT1 | c.1157+18C= (n.1157+18C=) c.974+18C= (n.974+18C=) c.1514+18C= (n.1514+18C=) c.1133+18C= (n.1133+18C=) c.620+18C= (n.620+18C=) n.37900G= | |
11 | g.2662099C>G | CA472236379 | KCNQ1,KCNQ1OT1 | c.1157+18C>G (n.1157+18C>G) c.974+18C>G (n.974+18C>G) c.1514+18C>G (n.1514+18C>G) c.1133+18C>G (n.1133+18C>G) c.620+18C>G (n.620+18C>G) n.37900G>C | |
11 | g.2662099C>T | CA005828 | KCNQ1,KCNQ1OT1 | c.1157+18C>T (n.1157+18C>T) c.974+18C>T (n.974+18C>T) c.1514+18C>T (n.1514+18C>T) c.1133+18C>T (n.1133+18C>T) c.620+18C>T (n.620+18C>T) n.37900G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662100G>A | CA030217 | KCNQ1,KCNQ1OT1 | c.1157+19G>A (n.1157+19G>A) c.974+19G>A (n.974+19G>A) c.1514+19G>A (n.1514+19G>A) c.1133+19G>A (n.1133+19G>A) c.620+19G>A (n.620+19G>A) n.37899C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662100G>C | CA472236380 | KCNQ1,KCNQ1OT1 | c.1157+19G>C (n.1157+19G>C) c.974+19G>C (n.974+19G>C) c.1514+19G>C (n.1514+19G>C) c.1133+19G>C (n.1133+19G>C) c.620+19G>C (n.620+19G>C) n.37899C>G | |
11 | g.2662100G= | CA1948248020 | KCNQ1,KCNQ1OT1 | c.1157+19G= (n.1157+19G=) c.974+19G= (n.974+19G=) c.1514+19G= (n.1514+19G=) c.1133+19G= (n.1133+19G=) c.620+19G= (n.620+19G=) n.37899C= | |
11 | g.2662100G>T | CA472236381 | KCNQ1,KCNQ1OT1 | c.1157+19G>T (n.1157+19G>T) c.974+19G>T (n.974+19G>T) c.1514+19G>T (n.1514+19G>T) c.1133+19G>T (n.1133+19G>T) c.620+19G>T (n.620+19G>T) n.37899C>A | |
11 | g.2662101T>A | CA472236382 | KCNQ1,KCNQ1OT1 | c.1157+20T>A (n.1157+20T>A) c.974+20T>A (n.974+20T>A) c.1514+20T>A (n.1514+20T>A) c.1133+20T>A (n.1133+20T>A) c.620+20T>A (n.620+20T>A) n.37898A>T | |
11 | g.2662101T>C | CA472236383 | KCNQ1,KCNQ1OT1 | c.1157+20T>C (n.1157+20T>C) c.974+20T>C (n.974+20T>C) c.1514+20T>C (n.1514+20T>C) c.1133+20T>C (n.1133+20T>C) c.620+20T>C (n.620+20T>C) n.37898A>G | |
11 | g.2662101T>G | CA472236384 | KCNQ1,KCNQ1OT1 | c.1157+20T>G (n.1157+20T>G) c.974+20T>G (n.974+20T>G) c.1514+20T>G (n.1514+20T>G) c.1133+20T>G (n.1133+20T>G) c.620+20T>G (n.620+20T>G) n.37898A>C |