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.63414913C>A | CA409646090 | KCNQ2 | c.1461G>T (p.Gln487His) c.1515G>T (p.Gln505His) c.912G>T (p.Gln304His) c.1425G>T (p.Gln475His) c.1083G>T (p.Gln361His) c.1431G>T (p.Gln477His) c.1395G>T (p.Gln465His) c.575G>T c.123G>T (p.Gln41His) c.1485G>T (p.Gln495His) c.1389G>T (p.Gln463His) c.996G>T (p.Gln332His) c.1392G>T (p.Gln464His) c.423G>T (p.Gln141His) | |
| 20 | g.63414913C>G | CA409646093 | KCNQ2 | c.1461G>C (p.Gln487His) c.1515G>C (p.Gln505His) c.912G>C (p.Gln304His) c.1425G>C (p.Gln475His) c.1083G>C (p.Gln361His) c.1431G>C (p.Gln477His) c.1395G>C (p.Gln465His) c.575G>C c.123G>C (p.Gln41His) c.1485G>C (p.Gln495His) c.1389G>C (p.Gln463His) c.996G>C (p.Gln332His) c.1392G>C (p.Gln464His) c.423G>C (p.Gln141His) | |
| 20 | g.63414913C>T | CA511339615 | KCNQ2 | c.1461G>A (p.Gln487=) c.1515G>A (p.Gln505=) c.912G>A (p.Gln304=) c.1425G>A (p.Gln475=) c.1083G>A (p.Gln361=) c.1431G>A (p.Gln477=) c.1395G>A (p.Gln465=) c.575G>A c.123G>A (p.Gln41=) c.1485G>A (p.Gln495=) c.1389G>A (p.Gln463=) c.996G>A (p.Gln332=) c.1392G>A (p.Gln464=) c.423G>A (p.Gln141=) | gnomAD v4 |
| 20 | g.63414914T>A | CA409646096 | KCNQ2 | c.1460A>T (p.Gln487Leu) c.1514A>T (p.Gln505Leu) c.911A>T (p.Gln304Leu) c.1424A>T (p.Gln475Leu) c.1082A>T (p.Gln361Leu) c.1430A>T (p.Gln477Leu) c.1394A>T (p.Gln465Leu) c.574A>T c.122A>T (p.Gln41Leu) c.1484A>T (p.Gln495Leu) c.1388A>T (p.Gln463Leu) c.995A>T (p.Gln332Leu) c.1391A>T (p.Gln464Leu) c.422A>T (p.Gln141Leu) | COSMIC COSMIC COSMIC |
| 20 | g.63414914T>C | CA409646101 | KCNQ2 | c.1460A>G (p.Gln487Arg) c.1514A>G (p.Gln505Arg) c.911A>G (p.Gln304Arg) c.1424A>G (p.Gln475Arg) c.1082A>G (p.Gln361Arg) c.1430A>G (p.Gln477Arg) c.1394A>G (p.Gln465Arg) c.574A>G c.122A>G (p.Gln41Arg) c.1484A>G (p.Gln495Arg) c.1388A>G (p.Gln463Arg) c.995A>G (p.Gln332Arg) c.1391A>G (p.Gln464Arg) c.422A>G (p.Gln141Arg) | gnomAD v4 |
| 20 | g.63414914T>G | CA409646104 | KCNQ2 | c.1460A>C (p.Gln487Pro) c.1514A>C (p.Gln505Pro) c.911A>C (p.Gln304Pro) c.1424A>C (p.Gln475Pro) c.1082A>C (p.Gln361Pro) c.1430A>C (p.Gln477Pro) c.1394A>C (p.Gln465Pro) c.574A>C c.122A>C (p.Gln41Pro) c.1484A>C (p.Gln495Pro) c.1388A>C (p.Gln463Pro) c.995A>C (p.Gln332Pro) c.1391A>C (p.Gln464Pro) c.422A>C (p.Gln141Pro) | |
| 20 | g.63414915G>A | CA409646108 | KCNQ2 | c.1459C>T (p.Gln487Ter) c.1513C>T (p.Gln505Ter) c.910C>T (p.Gln304Ter) c.1423C>T (p.Gln475Ter) c.1081C>T (p.Gln361Ter) c.1429C>T (p.Gln477Ter) c.1393C>T (p.Gln465Ter) c.573C>T c.121C>T (p.Gln41Ter) c.1483C>T (p.Gln495Ter) c.1387C>T (p.Gln463Ter) c.994C>T (p.Gln332Ter) c.1390C>T (p.Gln464Ter) c.421C>T (p.Gln141Ter) | |
| 20 | g.63414915G>C | CA409646110 | KCNQ2 | c.1459C>G (p.Gln487Glu) c.1513C>G (p.Gln505Glu) c.910C>G (p.Gln304Glu) c.1423C>G (p.Gln475Glu) c.1081C>G (p.Gln361Glu) c.1429C>G (p.Gln477Glu) c.1393C>G (p.Gln465Glu) c.573C>G c.121C>G (p.Gln41Glu) c.1483C>G (p.Gln495Glu) c.1387C>G (p.Gln463Glu) c.994C>G (p.Gln332Glu) c.1390C>G (p.Gln464Glu) c.421C>G (p.Gln141Glu) | |
| 20 | g.63414915G= | CA2374778760 | KCNQ2 | c.1459C= (p.Gln487=) c.1513C= (p.Gln505=) c.910C= (p.Gln304=) c.1423C= (p.Gln475=) c.1081C= (p.Gln361=) c.1429C= (p.Gln477=) c.1393C= (p.Gln465=) c.573C= c.121C= (p.Gln41=) c.1483C= (p.Gln495=) c.1387C= (p.Gln463=) c.994C= (p.Gln332=) c.1390C= (p.Gln464=) c.421C= (p.Gln141=) | |
| 20 | g.63414915G>T | CA9958443 | KCNQ2 | c.1459C>A (p.Gln487Lys) c.1513C>A (p.Gln505Lys) c.910C>A (p.Gln304Lys) c.1423C>A (p.Gln475Lys) c.1081C>A (p.Gln361Lys) c.1429C>A (p.Gln477Lys) c.1393C>A (p.Gln465Lys) c.573C>A c.121C>A (p.Gln41Lys) c.1483C>A (p.Gln495Lys) c.1387C>A (p.Gln463Lys) c.994C>A (p.Gln332Lys) c.1390C>A (p.Gln464Lys) c.421C>A (p.Gln141Lys) | dbSNP ExAC |
| 20 | g.63414916C>A | CA511339618 | KCNQ2 | c.1458G>T (p.Arg486=) c.1512G>T (p.Arg504=) c.909G>T (p.Arg303=) c.1422G>T (p.Arg474=) c.1080G>T (p.Arg360=) c.1428G>T (p.Arg476=) c.1392G>T (p.Arg464=) c.572G>T c.120G>T (p.Arg40=) c.1482G>T (p.Arg494=) c.1386G>T (p.Arg462=) c.993G>T (p.Arg331=) c.1389G>T (p.Arg463=) c.420G>T (p.Arg140=) | |
| 20 | g.63414916C= | CA2374778761 | KCNQ2 | c.1458G= (p.Arg486=) c.1512G= (p.Arg504=) c.909G= (p.Arg303=) c.1422G= (p.Arg474=) c.1080G= (p.Arg360=) c.1428G= (p.Arg476=) c.1392G= (p.Arg464=) c.572G= c.120G= (p.Arg40=) c.1482G= (p.Arg494=) c.1386G= (p.Arg462=) c.993G= (p.Arg331=) c.1389G= (p.Arg463=) c.420G= (p.Arg140=) | |
| 20 | g.63414916C>G | CA511339620 | KCNQ2 | c.1458G>C (p.Arg486=) c.1512G>C (p.Arg504=) c.909G>C (p.Arg303=) c.1422G>C (p.Arg474=) c.1080G>C (p.Arg360=) c.1428G>C (p.Arg476=) c.1392G>C (p.Arg464=) c.572G>C c.120G>C (p.Arg40=) c.1482G>C (p.Arg494=) c.1386G>C (p.Arg462=) c.993G>C (p.Arg331=) c.1389G>C (p.Arg463=) c.420G>C (p.Arg140=) | |
| 20 | g.63414916C>T | CA9958444 | KCNQ2 | c.1458G>A (p.Arg486=) c.1512G>A (p.Arg504=) c.909G>A (p.Arg303=) c.1422G>A (p.Arg474=) c.1080G>A (p.Arg360=) c.1428G>A (p.Arg476=) c.1392G>A (p.Arg464=) c.572G>A c.120G>A (p.Arg40=) c.1482G>A (p.Arg494=) c.1386G>A (p.Arg462=) c.993G>A (p.Arg331=) c.1389G>A (p.Arg463=) c.420G>A (p.Arg140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414917C>A | CA409646119 | KCNQ2 | c.1457G>T (p.Arg486Leu) c.1511G>T (p.Arg504Leu) c.908G>T (p.Arg303Leu) c.1421G>T (p.Arg474Leu) c.1079G>T (p.Arg360Leu) c.1427G>T (p.Arg476Leu) c.1391G>T (p.Arg464Leu) c.571G>T c.119G>T (p.Arg40Leu) c.1481G>T (p.Arg494Leu) c.1385G>T (p.Arg462Leu) c.992G>T (p.Arg331Leu) c.1388G>T (p.Arg463Leu) c.419G>T (p.Arg140Leu) | |
| 20 | g.63414917C= | CA2374778762 | KCNQ2 | c.1457G= (p.Arg486=) c.1511G= (p.Arg504=) c.908G= (p.Arg303=) c.1421G= (p.Arg474=) c.1079G= (p.Arg360=) c.1427G= (p.Arg476=) c.1391G= (p.Arg464=) c.571G= c.119G= (p.Arg40=) c.1481G= (p.Arg494=) c.1385G= (p.Arg462=) c.992G= (p.Arg331=) c.1388G= (p.Arg463=) c.419G= (p.Arg140=) | |
| 20 | g.63414917C>G | CA409646114 | KCNQ2 | c.1457G>C (p.Arg486Pro) c.1511G>C (p.Arg504Pro) c.908G>C (p.Arg303Pro) c.1421G>C (p.Arg474Pro) c.1079G>C (p.Arg360Pro) c.1427G>C (p.Arg476Pro) c.1391G>C (p.Arg464Pro) c.571G>C c.119G>C (p.Arg40Pro) c.1481G>C (p.Arg494Pro) c.1385G>C (p.Arg462Pro) c.992G>C (p.Arg331Pro) c.1388G>C (p.Arg463Pro) c.419G>C (p.Arg140Pro) | |
| 20 | g.63414917C>T | CA9958445 | KCNQ2 | c.1457G>A (p.Arg486Gln) c.1511G>A (p.Arg504Gln) c.908G>A (p.Arg303Gln) c.1421G>A (p.Arg474Gln) c.1079G>A (p.Arg360Gln) c.1427G>A (p.Arg476Gln) c.1391G>A (p.Arg464Gln) c.571G>A c.119G>A (p.Arg40Gln) c.1481G>A (p.Arg494Gln) c.1385G>A (p.Arg462Gln) c.992G>A (p.Arg331Gln) c.1388G>A (p.Arg463Gln) c.419G>A (p.Arg140Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.63414918G>A | CA409646122 | KCNQ2 | c.1456C>T (p.Arg486Trp) c.1510C>T (p.Arg504Trp) c.907C>T (p.Arg303Trp) c.1420C>T (p.Arg474Trp) c.1078C>T (p.Arg360Trp) c.1426C>T (p.Arg476Trp) c.1390C>T (p.Arg464Trp) c.570C>T c.118C>T (p.Arg40Trp) c.1480C>T (p.Arg494Trp) c.1384C>T (p.Arg462Trp) c.991C>T (p.Arg331Trp) c.1387C>T (p.Arg463Trp) c.418C>T (p.Arg140Trp) | dbSNP gnomAD v4 |
| 20 | g.63414918G>C | CA409646129 | KCNQ2 | c.1456C>G (p.Arg486Gly) c.1510C>G (p.Arg504Gly) c.907C>G (p.Arg303Gly) c.1420C>G (p.Arg474Gly) c.1078C>G (p.Arg360Gly) c.1426C>G (p.Arg476Gly) c.1390C>G (p.Arg464Gly) c.570C>G c.118C>G (p.Arg40Gly) c.1480C>G (p.Arg494Gly) c.1384C>G (p.Arg462Gly) c.991C>G (p.Arg331Gly) c.1387C>G (p.Arg463Gly) c.418C>G (p.Arg140Gly) | |
| 20 | g.63414918G= | CA2374778763 | KCNQ2 | c.1456C= (p.Arg486=) c.1510C= (p.Arg504=) c.907C= (p.Arg303=) c.1420C= (p.Arg474=) c.1078C= (p.Arg360=) c.1426C= (p.Arg476=) c.1390C= (p.Arg464=) c.570C= c.118C= (p.Arg40=) c.1480C= (p.Arg494=) c.1384C= (p.Arg462=) c.991C= (p.Arg331=) c.1387C= (p.Arg463=) c.418C= (p.Arg140=) | |
| 20 | g.63414918G>T | CA511339625 | KCNQ2 | c.1456C>A (p.Arg486=) c.1510C>A (p.Arg504=) c.907C>A (p.Arg303=) c.1420C>A (p.Arg474=) c.1078C>A (p.Arg360=) c.1426C>A (p.Arg476=) c.1390C>A (p.Arg464=) c.570C>A c.118C>A (p.Arg40=) c.1480C>A (p.Arg494=) c.1384C>A (p.Arg462=) c.991C>A (p.Arg331=) c.1387C>A (p.Arg463=) c.418C>A (p.Arg140=) | |
| 20 | g.63414919T>A | CA511339627 | KCNQ2 | c.1455A>T (p.Ser485=) c.1509A>T (p.Ser503=) c.906A>T (p.Ser302=) c.1419A>T (p.Ser473=) c.1077A>T (p.Ser359=) c.1425A>T (p.Ser475=) c.1389A>T (p.Ser463=) c.569A>T c.117A>T (p.Ser39=) c.1479A>T (p.Ser493=) c.1383A>T (p.Ser461=) c.990A>T (p.Ser330=) c.1386A>T (p.Ser462=) c.417A>T (p.Ser139=) | |
| 20 | g.63414919T>C | CA511339628 | KCNQ2 | c.1455A>G (p.Ser485=) c.1509A>G (p.Ser503=) c.906A>G (p.Ser302=) c.1419A>G (p.Ser473=) c.1077A>G (p.Ser359=) c.1425A>G (p.Ser475=) c.1389A>G (p.Ser463=) c.569A>G c.117A>G (p.Ser39=) c.1479A>G (p.Ser493=) c.1383A>G (p.Ser461=) c.990A>G (p.Ser330=) c.1386A>G (p.Ser462=) c.417A>G (p.Ser139=) | gnomAD v4 |
| 20 | g.63414919T>G | CA511339629 | KCNQ2 | c.1455A>C (p.Ser485=) c.1509A>C (p.Ser503=) c.906A>C (p.Ser302=) c.1419A>C (p.Ser473=) c.1077A>C (p.Ser359=) c.1425A>C (p.Ser475=) c.1389A>C (p.Ser463=) c.569A>C c.117A>C (p.Ser39=) c.1479A>C (p.Ser493=) c.1383A>C (p.Ser461=) c.990A>C (p.Ser330=) c.1386A>C (p.Ser462=) c.417A>C (p.Ser139=) | gnomAD v4 |
| 20 | g.63414920G>A | CA409646132 | KCNQ2 | c.1454C>T (p.Ser485Leu) c.1508C>T (p.Ser503Leu) c.905C>T (p.Ser302Leu) c.1418C>T (p.Ser473Leu) c.1076C>T (p.Ser359Leu) c.1424C>T (p.Ser475Leu) c.1388C>T (p.Ser463Leu) c.568C>T c.116C>T (p.Ser39Leu) c.1478C>T (p.Ser493Leu) c.1382C>T (p.Ser461Leu) c.989C>T (p.Ser330Leu) c.1385C>T (p.Ser462Leu) c.416C>T (p.Ser139Leu) | COSMIC COSMIC COSMIC |
| 20 | g.63414920G>C | CA409646133 | KCNQ2 | c.1454C>G (p.Ser485Ter) c.1508C>G (p.Ser503Ter) c.905C>G (p.Ser302Ter) c.1418C>G (p.Ser473Ter) c.1076C>G (p.Ser359Ter) c.1424C>G (p.Ser475Ter) c.1388C>G (p.Ser463Ter) c.568C>G c.116C>G (p.Ser39Ter) c.1478C>G (p.Ser493Ter) c.1382C>G (p.Ser461Ter) c.989C>G (p.Ser330Ter) c.1385C>G (p.Ser462Ter) c.416C>G (p.Ser139Ter) | ClinVar dbSNP |
| 20 | g.63414920G= | CA2374778764 | KCNQ2 | c.1454C= (p.Ser485=) c.1508C= (p.Ser503=) c.905C= (p.Ser302=) c.1418C= (p.Ser473=) c.1076C= (p.Ser359=) c.1424C= (p.Ser475=) c.1388C= (p.Ser463=) c.568C= c.116C= (p.Ser39=) c.1478C= (p.Ser493=) c.1382C= (p.Ser461=) c.989C= (p.Ser330=) c.1385C= (p.Ser462=) c.416C= (p.Ser139=) | |
| 20 | g.63414920G>T | CA409646134 | KCNQ2 | c.1454C>A (p.Ser485Ter) c.1508C>A (p.Ser503Ter) c.905C>A (p.Ser302Ter) c.1418C>A (p.Ser473Ter) c.1076C>A (p.Ser359Ter) c.1424C>A (p.Ser475Ter) c.1388C>A (p.Ser463Ter) c.568C>A c.116C>A (p.Ser39Ter) c.1478C>A (p.Ser493Ter) c.1382C>A (p.Ser461Ter) c.989C>A (p.Ser330Ter) c.1385C>A (p.Ser462Ter) c.416C>A (p.Ser139Ter) | |
| 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 |