UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414917_63415288delinsT | CA2739277255 | KCNQ2 | c.1248-162_1457delinsA c.1302-162_1511delinsA c.699-162_908delinsA c.1248-198_1421delinsA c.906-198_1079delinsA c.1218-162_1427delinsA c.1218-198_1391delinsA c.362-162_571delinsA c.1272-162_1481delinsA c.1176-162_1385delinsA c.783-162_992delinsA c.1179-162_1388delinsA c.210-162_419delinsA | ClinVar |
| 20 | g.63414921A>C | CA409646136 | KCNQ2 | c.1453T>G (p.Ser485Ala) c.1507T>G (p.Ser503Ala) c.904T>G (p.Ser302Ala) c.1417T>G (p.Ser473Ala) c.1075T>G (p.Ser359Ala) c.1423T>G (p.Ser475Ala) c.1387T>G (p.Ser463Ala) c.567T>G c.115T>G (p.Ser39Ala) c.1477T>G (p.Ser493Ala) c.1381T>G (p.Ser461Ala) c.988T>G (p.Ser330Ala) c.1384T>G (p.Ser462Ala) c.415T>G (p.Ser139Ala) | |
| 20 | g.63414921A>G | CA409646142 | KCNQ2 | c.1453T>C (p.Ser485Pro) c.1507T>C (p.Ser503Pro) c.904T>C (p.Ser302Pro) c.1417T>C (p.Ser473Pro) c.1075T>C (p.Ser359Pro) c.1423T>C (p.Ser475Pro) c.1387T>C (p.Ser463Pro) c.567T>C c.115T>C (p.Ser39Pro) c.1477T>C (p.Ser493Pro) c.1381T>C (p.Ser461Pro) c.988T>C (p.Ser330Pro) c.1384T>C (p.Ser462Pro) c.415T>C (p.Ser139Pro) | |
| 20 | g.63414921A>T | CA409646138 | KCNQ2 | c.1453T>A (p.Ser485Thr) c.1507T>A (p.Ser503Thr) c.904T>A (p.Ser302Thr) c.1417T>A (p.Ser473Thr) c.1075T>A (p.Ser359Thr) c.1423T>A (p.Ser475Thr) c.1387T>A (p.Ser463Thr) c.567T>A c.115T>A (p.Ser39Thr) c.1477T>A (p.Ser493Thr) c.1381T>A (p.Ser461Thr) c.988T>A (p.Ser330Thr) c.1384T>A (p.Ser462Thr) c.415T>A (p.Ser139Thr) | dbSNP |
| 20 | g.63414922C>A | CA511339634 | KCNQ2 | c.1452G>T (p.Ala484=) c.1506G>T (p.Ala502=) c.903G>T (p.Ala301=) c.1416G>T (p.Ala472=) c.1074G>T (p.Ala358=) c.1422G>T (p.Ala474=) c.1386G>T (p.Ala462=) c.566G>T c.114G>T (p.Ala38=) c.1476G>T (p.Ala492=) c.1380G>T (p.Ala460=) c.987G>T (p.Ala329=) c.1383G>T (p.Ala461=) c.414G>T (p.Ala138=) | |
| 20 | g.63414922C= | CA2374778765 | KCNQ2 | c.1452G= (p.Ala484=) c.1506G= (p.Ala502=) c.903G= (p.Ala301=) c.1416G= (p.Ala472=) c.1074G= (p.Ala358=) c.1422G= (p.Ala474=) c.1386G= (p.Ala462=) c.566G= c.114G= (p.Ala38=) c.1476G= (p.Ala492=) c.1380G= (p.Ala460=) c.987G= (p.Ala329=) c.1383G= (p.Ala461=) c.414G= (p.Ala138=) | |
| 20 | g.63414922C>G | CA511339635 | KCNQ2 | c.1452G>C (p.Ala484=) c.1506G>C (p.Ala502=) c.903G>C (p.Ala301=) c.1416G>C (p.Ala472=) c.1074G>C (p.Ala358=) c.1422G>C (p.Ala474=) c.1386G>C (p.Ala462=) c.566G>C c.114G>C (p.Ala38=) c.1476G>C (p.Ala492=) c.1380G>C (p.Ala460=) c.987G>C (p.Ala329=) c.1383G>C (p.Ala461=) c.414G>C (p.Ala138=) | dbSNP |
| 20 | g.63414922C>T | CA9958446 | KCNQ2 | c.1452G>A (p.Ala484=) c.1506G>A (p.Ala502=) c.903G>A (p.Ala301=) c.1416G>A (p.Ala472=) c.1074G>A (p.Ala358=) c.1422G>A (p.Ala474=) c.1386G>A (p.Ala462=) c.566G>A c.114G>A (p.Ala38=) c.1476G>A (p.Ala492=) c.1380G>A (p.Ala460=) c.987G>A (p.Ala329=) c.1383G>A (p.Ala461=) c.414G>A (p.Ala138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63414923G>A | CA315447 | KCNQ2 | c.1451C>T (p.Ala484Val) c.1505C>T (p.Ala502Val) c.902C>T (p.Ala301Val) c.1415C>T (p.Ala472Val) c.1073C>T (p.Ala358Val) c.1421C>T (p.Ala474Val) c.1385C>T (p.Ala462Val) c.565C>T c.113C>T (p.Ala38Val) c.1475C>T (p.Ala492Val) c.1379C>T (p.Ala460Val) c.986C>T (p.Ala329Val) c.1382C>T (p.Ala461Val) c.413C>T (p.Ala138Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63414923G>C | CA409646144 | KCNQ2 | c.1451C>G (p.Ala484Gly) c.1505C>G (p.Ala502Gly) c.902C>G (p.Ala301Gly) c.1415C>G (p.Ala472Gly) c.1073C>G (p.Ala358Gly) c.1421C>G (p.Ala474Gly) c.1385C>G (p.Ala462Gly) c.565C>G c.113C>G (p.Ala38Gly) c.1475C>G (p.Ala492Gly) c.1379C>G (p.Ala460Gly) c.986C>G (p.Ala329Gly) c.1382C>G (p.Ala461Gly) c.413C>G (p.Ala138Gly) | |
| 20 | g.63414923G= | CA2374778766 | KCNQ2 | c.1451C= (p.Ala484=) c.1505C= (p.Ala502=) c.902C= (p.Ala301=) c.1415C= (p.Ala472=) c.1073C= (p.Ala358=) c.1421C= (p.Ala474=) c.1385C= (p.Ala462=) c.565C= c.113C= (p.Ala38=) c.1475C= (p.Ala492=) c.1379C= (p.Ala460=) c.986C= (p.Ala329=) c.1382C= (p.Ala461=) c.413C= (p.Ala138=) | |
| 20 | g.63414923G>T | CA409646145 | KCNQ2 | c.1451C>A (p.Ala484Glu) c.1505C>A (p.Ala502Glu) c.902C>A (p.Ala301Glu) c.1415C>A (p.Ala472Glu) c.1073C>A (p.Ala358Glu) c.1421C>A (p.Ala474Glu) c.1385C>A (p.Ala462Glu) c.565C>A c.113C>A (p.Ala38Glu) c.1475C>A (p.Ala492Glu) c.1379C>A (p.Ala460Glu) c.986C>A (p.Ala329Glu) c.1382C>A (p.Ala461Glu) c.413C>A (p.Ala138Glu) | |
| 20 | g.63414924C>A | CA409646147 | KCNQ2 | c.1450G>T (p.Ala484Ser) c.1504G>T (p.Ala502Ser) c.901G>T (p.Ala301Ser) c.1414G>T (p.Ala472Ser) c.1072G>T (p.Ala358Ser) c.1420G>T (p.Ala474Ser) c.1384G>T (p.Ala462Ser) c.564G>T c.112G>T (p.Ala38Ser) c.1474G>T (p.Ala492Ser) c.1378G>T (p.Ala460Ser) c.985G>T (p.Ala329Ser) c.1381G>T (p.Ala461Ser) c.412G>T (p.Ala138Ser) | ClinVar dbSNP |
| 20 | g.63414924C= | CA2374778767 | KCNQ2 | c.1450G= (p.Ala484=) c.1504G= (p.Ala502=) c.901G= (p.Ala301=) c.1414G= (p.Ala472=) c.1072G= (p.Ala358=) c.1420G= (p.Ala474=) c.1384G= (p.Ala462=) c.564G= c.112G= (p.Ala38=) c.1474G= (p.Ala492=) c.1378G= (p.Ala460=) c.985G= (p.Ala329=) c.1381G= (p.Ala461=) c.412G= (p.Ala138=) | |
| 20 | g.63414924C>G | CA409646149 | KCNQ2 | c.1450G>C (p.Ala484Pro) c.1504G>C (p.Ala502Pro) c.901G>C (p.Ala301Pro) c.1414G>C (p.Ala472Pro) c.1072G>C (p.Ala358Pro) c.1420G>C (p.Ala474Pro) c.1384G>C (p.Ala462Pro) c.564G>C c.112G>C (p.Ala38Pro) c.1474G>C (p.Ala492Pro) c.1378G>C (p.Ala460Pro) c.985G>C (p.Ala329Pro) c.1381G>C (p.Ala461Pro) c.412G>C (p.Ala138Pro) | |
| 20 | g.63414924C>T | CA9958447 | KCNQ2 | c.1450G>A (p.Ala484Thr) c.1504G>A (p.Ala502Thr) c.901G>A (p.Ala301Thr) c.1414G>A (p.Ala472Thr) c.1072G>A (p.Ala358Thr) c.1420G>A (p.Ala474Thr) c.1384G>A (p.Ala462Thr) c.564G>A c.112G>A (p.Ala38Thr) c.1474G>A (p.Ala492Thr) c.1378G>A (p.Ala460Thr) c.985G>A (p.Ala329Thr) c.1381G>A (p.Ala461Thr) c.412G>A (p.Ala138Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414925G>A | CA240167 | KCNQ2 | c.1449C>T (p.Ala483=) c.1503C>T (p.Ala501=) c.900C>T (p.Ala300=) c.1413C>T (p.Ala471=) c.1071C>T (p.Ala357=) c.1419C>T (p.Ala473=) c.1383C>T (p.Ala461=) c.563C>T c.111C>T (p.Ala37=) c.1473C>T (p.Ala491=) c.1377C>T (p.Ala459=) c.984C>T (p.Ala328=) c.1380C>T (p.Ala460=) c.411C>T (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414925G>C | CA153290 | KCNQ2 | c.1449C>G (p.Ala483=) c.1503C>G (p.Ala501=) c.900C>G (p.Ala300=) c.1413C>G (p.Ala471=) c.1071C>G (p.Ala357=) c.1419C>G (p.Ala473=) c.1383C>G (p.Ala461=) c.563C>G c.111C>G (p.Ala37=) c.1473C>G (p.Ala491=) c.1377C>G (p.Ala459=) c.984C>G (p.Ala328=) c.1380C>G (p.Ala460=) c.411C>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414925G= | CA2374778768 | KCNQ2 | c.1449C= (p.Ala483=) c.1503C= (p.Ala501=) c.900C= (p.Ala300=) c.1413C= (p.Ala471=) c.1071C= (p.Ala357=) c.1419C= (p.Ala473=) c.1383C= (p.Ala461=) c.563C= c.111C= (p.Ala37=) c.1473C= (p.Ala491=) c.1377C= (p.Ala459=) c.984C= (p.Ala328=) c.1380C= (p.Ala460=) c.411C= (p.Ala137=) | |
| 20 | g.63414925G>T | CA511339640 | KCNQ2 | c.1449C>A (p.Ala483=) c.1503C>A (p.Ala501=) c.900C>A (p.Ala300=) c.1413C>A (p.Ala471=) c.1071C>A (p.Ala357=) c.1419C>A (p.Ala473=) c.1383C>A (p.Ala461=) c.563C>A c.111C>A (p.Ala37=) c.1473C>A (p.Ala491=) c.1377C>A (p.Ala459=) c.984C>A (p.Ala328=) c.1380C>A (p.Ala460=) c.411C>A (p.Ala137=) | dbSNP |
| 20 | g.63414925_63414926delinsCA | CA916083768 | KCNQ2 | c.1448_1449delinsTG (p.Ala483Val) c.1502_1503delinsTG (p.Ala501Val) c.899_900delinsTG (p.Ala300Val) c.1412_1413delinsTG (p.Ala471Val) c.1070_1071delinsTG (p.Ala357Val) c.1418_1419delinsTG (p.Ala473Val) c.1382_1383delinsTG (p.Ala461Val) c.562_563delinsTG c.110_111delinsTG (p.Ala37Val) c.1472_1473delinsTG (p.Ala491Val) c.1376_1377delinsTG (p.Ala459Val) c.983_984delinsTG (p.Ala328Val) c.1379_1380delinsTG (p.Ala460Val) c.410_411delinsTG (p.Ala137Val) | ClinVar dbSNP |
| 20 | g.63414925_63414926delinsGG | CA2374778769 | KCNQ2 | c.1448_1449delinsCC (p.Ala483=) c.1502_1503delinsCC (p.Ala501=) c.899_900delinsCC (p.Ala300=) c.1412_1413delinsCC (p.Ala471=) c.1070_1071delinsCC (p.Ala357=) c.1418_1419delinsCC (p.Ala473=) c.1382_1383delinsCC (p.Ala461=) c.562_563delinsCC c.110_111delinsCC (p.Ala37=) c.1472_1473delinsCC (p.Ala491=) c.1376_1377delinsCC (p.Ala459=) c.983_984delinsCC (p.Ala328=) c.1379_1380delinsCC (p.Ala460=) c.410_411delinsCC (p.Ala137=) | |
| 20 | g.63414926G>A | CA409646161 | KCNQ2 | c.1448C>T (p.Ala483Val) c.1502C>T (p.Ala501Val) c.899C>T (p.Ala300Val) c.1412C>T (p.Ala471Val) c.1070C>T (p.Ala357Val) c.1418C>T (p.Ala473Val) c.1382C>T (p.Ala461Val) c.562C>T c.110C>T (p.Ala37Val) c.1472C>T (p.Ala491Val) c.1376C>T (p.Ala459Val) c.983C>T (p.Ala328Val) c.1379C>T (p.Ala460Val) c.410C>T (p.Ala137Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63414926G>C | CA409646165 | KCNQ2 | c.1448C>G (p.Ala483Gly) c.1502C>G (p.Ala501Gly) c.899C>G (p.Ala300Gly) c.1412C>G (p.Ala471Gly) c.1070C>G (p.Ala357Gly) c.1418C>G (p.Ala473Gly) c.1382C>G (p.Ala461Gly) c.562C>G c.110C>G (p.Ala37Gly) c.1472C>G (p.Ala491Gly) c.1376C>G (p.Ala459Gly) c.983C>G (p.Ala328Gly) c.1379C>G (p.Ala460Gly) c.410C>G (p.Ala137Gly) | |
| 20 | g.63414926G= | CA2374778770 | KCNQ2 | c.1448C= (p.Ala483=) c.1502C= (p.Ala501=) c.899C= (p.Ala300=) c.1412C= (p.Ala471=) c.1070C= (p.Ala357=) c.1418C= (p.Ala473=) c.1382C= (p.Ala461=) c.562C= c.110C= (p.Ala37=) c.1472C= (p.Ala491=) c.1376C= (p.Ala459=) c.983C= (p.Ala328=) c.1379C= (p.Ala460=) c.410C= (p.Ala137=) | |
| 20 | g.63414926G>T | CA409646167 | KCNQ2 | c.1448C>A (p.Ala483Asp) c.1502C>A (p.Ala501Asp) c.899C>A (p.Ala300Asp) c.1412C>A (p.Ala471Asp) c.1070C>A (p.Ala357Asp) c.1418C>A (p.Ala473Asp) c.1382C>A (p.Ala461Asp) c.562C>A c.110C>A (p.Ala37Asp) c.1472C>A (p.Ala491Asp) c.1376C>A (p.Ala459Asp) c.983C>A (p.Ala328Asp) c.1379C>A (p.Ala460Asp) c.410C>A (p.Ala137Asp) | gnomAD v4 |
| 20 | g.63414927C>A | CA409646174 | KCNQ2 | c.1447G>T (p.Ala483Ser) c.1501G>T (p.Ala501Ser) c.898G>T (p.Ala300Ser) c.1411G>T (p.Ala471Ser) c.1069G>T (p.Ala357Ser) c.1417G>T (p.Ala473Ser) c.1381G>T (p.Ala461Ser) c.561G>T c.109G>T (p.Ala37Ser) c.1471G>T (p.Ala491Ser) c.1375G>T (p.Ala459Ser) c.982G>T (p.Ala328Ser) c.1378G>T (p.Ala460Ser) c.409G>T (p.Ala137Ser) | |
| 20 | g.63414927C= | CA2374778771 | KCNQ2 | c.1447G= (p.Ala483=) c.1501G= (p.Ala501=) c.898G= (p.Ala300=) c.1411G= (p.Ala471=) c.1069G= (p.Ala357=) c.1417G= (p.Ala473=) c.1381G= (p.Ala461=) c.561G= c.109G= (p.Ala37=) c.1471G= (p.Ala491=) c.1375G= (p.Ala459=) c.982G= (p.Ala328=) c.1378G= (p.Ala460=) c.409G= (p.Ala137=) | |
| 20 | g.63414927C>G | CA10654788 | KCNQ2 | c.1447G>C (p.Ala483Pro) c.1501G>C (p.Ala501Pro) c.898G>C (p.Ala300Pro) c.1411G>C (p.Ala471Pro) c.1069G>C (p.Ala357Pro) c.1417G>C (p.Ala473Pro) c.1381G>C (p.Ala461Pro) c.561G>C c.109G>C (p.Ala37Pro) c.1471G>C (p.Ala491Pro) c.1375G>C (p.Ala459Pro) c.982G>C (p.Ala328Pro) c.1378G>C (p.Ala460Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 20 | g.63414927C>T | CA409646171 | KCNQ2 | c.1447G>A (p.Ala483Thr) c.1501G>A (p.Ala501Thr) c.898G>A (p.Ala300Thr) c.1411G>A (p.Ala471Thr) c.1069G>A (p.Ala357Thr) c.1417G>A (p.Ala473Thr) c.1381G>A (p.Ala461Thr) c.561G>A c.109G>A (p.Ala37Thr) c.1471G>A (p.Ala491Thr) c.1375G>A (p.Ala459Thr) c.982G>A (p.Ala328Thr) c.1378G>A (p.Ala460Thr) c.409G>A (p.Ala137Thr) | dbSNP |
| 20 | g.63414928A>C | CA511339646 | KCNQ2 | c.1446T>G (p.Gly482=) c.1500T>G (p.Gly500=) c.897T>G (p.Gly299=) c.1410T>G (p.Gly470=) c.1068T>G (p.Gly356=) c.1416T>G (p.Gly472=) c.1380T>G (p.Gly460=) c.560T>G c.108T>G (p.Gly36=) c.1470T>G (p.Gly490=) c.1374T>G (p.Gly458=) c.981T>G (p.Gly327=) c.1377T>G (p.Gly459=) c.408T>G (p.Gly136=) | |
| 20 | g.63414928A>G | CA511339643 | KCNQ2 | c.1446T>C (p.Gly482=) c.1500T>C (p.Gly500=) c.897T>C (p.Gly299=) c.1410T>C (p.Gly470=) c.1068T>C (p.Gly356=) c.1416T>C (p.Gly472=) c.1380T>C (p.Gly460=) c.560T>C c.108T>C (p.Gly36=) c.1470T>C (p.Gly490=) c.1374T>C (p.Gly458=) c.981T>C (p.Gly327=) c.1377T>C (p.Gly459=) c.408T>C (p.Gly136=) | dbSNP |
| 20 | g.63414928A>T | CA511339642 | KCNQ2 | c.1446T>A (p.Gly482=) c.1500T>A (p.Gly500=) c.897T>A (p.Gly299=) c.1410T>A (p.Gly470=) c.1068T>A (p.Gly356=) c.1416T>A (p.Gly472=) c.1380T>A (p.Gly460=) c.560T>A c.108T>A (p.Gly36=) c.1470T>A (p.Gly490=) c.1374T>A (p.Gly458=) c.981T>A (p.Gly327=) c.1377T>A (p.Gly459=) c.408T>A (p.Gly136=) | |
| 20 | g.63414929C>A | CA409646180 | KCNQ2 | c.1445G>T (p.Gly482Val) c.1499G>T (p.Gly500Val) c.896G>T (p.Gly299Val) c.1409G>T (p.Gly470Val) c.1067G>T (p.Gly356Val) c.1415G>T (p.Gly472Val) c.1379G>T (p.Gly460Val) c.559G>T c.107G>T (p.Gly36Val) c.1469G>T (p.Gly490Val) c.1373G>T (p.Gly458Val) c.980G>T (p.Gly327Val) c.1376G>T (p.Gly459Val) c.407G>T (p.Gly136Val) | |
| 20 | g.63414929C>G | CA409646183 | KCNQ2 | c.1445G>C (p.Gly482Ala) c.1499G>C (p.Gly500Ala) c.896G>C (p.Gly299Ala) c.1409G>C (p.Gly470Ala) c.1067G>C (p.Gly356Ala) c.1415G>C (p.Gly472Ala) c.1379G>C (p.Gly460Ala) c.559G>C c.107G>C (p.Gly36Ala) c.1469G>C (p.Gly490Ala) c.1373G>C (p.Gly458Ala) c.980G>C (p.Gly327Ala) c.1376G>C (p.Gly459Ala) c.407G>C (p.Gly136Ala) | gnomAD v4 |
| 20 | g.63414929C>T | CA409646186 | KCNQ2 | c.1445G>A (p.Gly482Asp) c.1499G>A (p.Gly500Asp) c.896G>A (p.Gly299Asp) c.1409G>A (p.Gly470Asp) c.1067G>A (p.Gly356Asp) c.1415G>A (p.Gly472Asp) c.1379G>A (p.Gly460Asp) c.559G>A c.107G>A (p.Gly36Asp) c.1469G>A (p.Gly490Asp) c.1373G>A (p.Gly458Asp) c.980G>A (p.Gly327Asp) c.1376G>A (p.Gly459Asp) c.407G>A (p.Gly136Asp) | ClinVar |
| 20 | g.63414930C>A | CA409646187 | KCNQ2 | c.1444G>T (p.Gly482Cys) c.1498G>T (p.Gly500Cys) c.895G>T (p.Gly299Cys) c.1408G>T (p.Gly470Cys) c.1066G>T (p.Gly356Cys) c.1414G>T (p.Gly472Cys) c.1378G>T (p.Gly460Cys) c.558G>T c.106G>T (p.Gly36Cys) c.1468G>T (p.Gly490Cys) c.1372G>T (p.Gly458Cys) c.979G>T (p.Gly327Cys) c.1375G>T (p.Gly459Cys) c.406G>T (p.Gly136Cys) | |
| 20 | g.63414930C= | CA2374778772 | KCNQ2 | c.1444G= (p.Gly482=) c.1498G= (p.Gly500=) c.895G= (p.Gly299=) c.1408G= (p.Gly470=) c.1066G= (p.Gly356=) c.1414G= (p.Gly472=) c.1378G= (p.Gly460=) c.558G= c.106G= (p.Gly36=) c.1468G= (p.Gly490=) c.1372G= (p.Gly458=) c.979G= (p.Gly327=) c.1375G= (p.Gly459=) c.406G= (p.Gly136=) | |
| 20 | g.63414930C>G | CA409646189 | KCNQ2 | c.1444G>C (p.Gly482Arg) c.1498G>C (p.Gly500Arg) c.895G>C (p.Gly299Arg) c.1408G>C (p.Gly470Arg) c.1066G>C (p.Gly356Arg) c.1414G>C (p.Gly472Arg) c.1378G>C (p.Gly460Arg) c.558G>C c.106G>C (p.Gly36Arg) c.1468G>C (p.Gly490Arg) c.1372G>C (p.Gly458Arg) c.979G>C (p.Gly327Arg) c.1375G>C (p.Gly459Arg) c.406G>C (p.Gly136Arg) | |
| 20 | g.63414930C>T | CA409646190 | KCNQ2 | c.1444G>A (p.Gly482Ser) c.1498G>A (p.Gly500Ser) c.895G>A (p.Gly299Ser) c.1408G>A (p.Gly470Ser) c.1066G>A (p.Gly356Ser) c.1414G>A (p.Gly472Ser) c.1378G>A (p.Gly460Ser) c.558G>A c.106G>A (p.Gly36Ser) c.1468G>A (p.Gly490Ser) c.1372G>A (p.Gly458Ser) c.979G>A (p.Gly327Ser) c.1375G>A (p.Gly459Ser) c.406G>A (p.Gly136Ser) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63414931C>A | CA409646191 | KCNQ2 | c.1443G>T (p.Lys481Asn) c.1497G>T (p.Lys499Asn) c.894G>T (p.Lys298Asn) c.1407G>T (p.Lys469Asn) c.1065G>T (p.Lys355Asn) c.1413G>T (p.Lys471Asn) c.1377G>T (p.Lys459Asn) c.557G>T c.105G>T (p.Lys35Asn) c.1467G>T (p.Lys489Asn) c.1371G>T (p.Lys457Asn) c.978G>T (p.Lys326Asn) c.1374G>T (p.Lys458Asn) c.405G>T (p.Lys135Asn) | COSMIC COSMIC COSMIC |
| 20 | g.63414931C= | CA2374778773 | KCNQ2 | c.1443G= (p.Lys481=) c.1497G= (p.Lys499=) c.894G= (p.Lys298=) c.1407G= (p.Lys469=) c.1065G= (p.Lys355=) c.1413G= (p.Lys471=) c.1377G= (p.Lys459=) c.557G= c.105G= (p.Lys35=) c.1467G= (p.Lys489=) c.1371G= (p.Lys457=) c.978G= (p.Lys326=) c.1374G= (p.Lys458=) c.405G= (p.Lys135=) | |
| 20 | g.63414931C>G | CA409646193 | KCNQ2 | c.1443G>C (p.Lys481Asn) c.1497G>C (p.Lys499Asn) c.894G>C (p.Lys298Asn) c.1407G>C (p.Lys469Asn) c.1065G>C (p.Lys355Asn) c.1413G>C (p.Lys471Asn) c.1377G>C (p.Lys459Asn) c.557G>C c.105G>C (p.Lys35Asn) c.1467G>C (p.Lys489Asn) c.1371G>C (p.Lys457Asn) c.978G>C (p.Lys326Asn) c.1374G>C (p.Lys458Asn) c.405G>C (p.Lys135Asn) | COSMIC COSMIC COSMIC |
| 20 | g.63414931C>T | CA511339650 | KCNQ2 | c.1443G>A (p.Lys481=) c.1497G>A (p.Lys499=) c.894G>A (p.Lys298=) c.1407G>A (p.Lys469=) c.1065G>A (p.Lys355=) c.1413G>A (p.Lys471=) c.1377G>A (p.Lys459=) c.557G>A c.105G>A (p.Lys35=) c.1467G>A (p.Lys489=) c.1371G>A (p.Lys457=) c.978G>A (p.Lys326=) c.1374G>A (p.Lys458=) c.405G>A (p.Lys135=) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 20 | g.63414932T>A | CA409646196 | KCNQ2 | c.1442A>T (p.Lys481Met) c.1496A>T (p.Lys499Met) c.893A>T (p.Lys298Met) c.1406A>T (p.Lys469Met) c.1064A>T (p.Lys355Met) c.1412A>T (p.Lys471Met) c.1376A>T (p.Lys459Met) c.556A>T c.104A>T (p.Lys35Met) c.1466A>T (p.Lys489Met) c.1370A>T (p.Lys457Met) c.977A>T (p.Lys326Met) c.1373A>T (p.Lys458Met) c.404A>T (p.Lys135Met) | |
| 20 | g.63414932T>C | CA317430923 | KCNQ2 | c.1442A>G (p.Lys481Arg) c.1496A>G (p.Lys499Arg) c.893A>G (p.Lys298Arg) c.1406A>G (p.Lys469Arg) c.1064A>G (p.Lys355Arg) c.1412A>G (p.Lys471Arg) c.1376A>G (p.Lys459Arg) c.556A>G c.104A>G (p.Lys35Arg) c.1466A>G (p.Lys489Arg) c.1370A>G (p.Lys457Arg) c.977A>G (p.Lys326Arg) c.1373A>G (p.Lys458Arg) c.404A>G (p.Lys135Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63414932T>G | CA409646197 | KCNQ2 | c.1442A>C (p.Lys481Thr) c.1496A>C (p.Lys499Thr) c.893A>C (p.Lys298Thr) c.1406A>C (p.Lys469Thr) c.1064A>C (p.Lys355Thr) c.1412A>C (p.Lys471Thr) c.1376A>C (p.Lys459Thr) c.556A>C c.104A>C (p.Lys35Thr) c.1466A>C (p.Lys489Thr) c.1370A>C (p.Lys457Thr) c.977A>C (p.Lys326Thr) c.1373A>C (p.Lys458Thr) c.404A>C (p.Lys135Thr) | |
| 20 | g.63414932T= | CA2374778774 | KCNQ2 | c.1442A= (p.Lys481=) c.1496A= (p.Lys499=) c.893A= (p.Lys298=) c.1406A= (p.Lys469=) c.1064A= (p.Lys355=) c.1412A= (p.Lys471=) c.1376A= (p.Lys459=) c.556A= c.104A= (p.Lys35=) c.1466A= (p.Lys489=) c.1370A= (p.Lys457=) c.977A= (p.Lys326=) c.1373A= (p.Lys458=) c.404A= (p.Lys135=) | |
| 20 | g.63414933T>A | CA409646198 | KCNQ2 | c.1441A>T (p.Lys481Ter) c.1495A>T (p.Lys499Ter) c.892A>T (p.Lys298Ter) c.1405A>T (p.Lys469Ter) c.1063A>T (p.Lys355Ter) c.1411A>T (p.Lys471Ter) c.1375A>T (p.Lys459Ter) c.555A>T c.103A>T (p.Lys35Ter) c.1465A>T (p.Lys489Ter) c.1369A>T (p.Lys457Ter) c.976A>T (p.Lys326Ter) c.1372A>T (p.Lys458Ter) c.403A>T (p.Lys135Ter) | |
| 20 | g.63414933T>C | CA409646200 | KCNQ2 | c.1441A>G (p.Lys481Glu) c.1495A>G (p.Lys499Glu) c.892A>G (p.Lys298Glu) c.1405A>G (p.Lys469Glu) c.1063A>G (p.Lys355Glu) c.1411A>G (p.Lys471Glu) c.1375A>G (p.Lys459Glu) c.555A>G c.103A>G (p.Lys35Glu) c.1465A>G (p.Lys489Glu) c.1369A>G (p.Lys457Glu) c.976A>G (p.Lys326Glu) c.1372A>G (p.Lys458Glu) c.403A>G (p.Lys135Glu) |