| 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 | |
| 20 | g.63415008_63415010delinsCGA | CA2374778807 | KCNQ2 | c.1364_1366delinsTCG (p.Leu455=) c.1418_1420delinsTCG (p.Leu473=) c.815_817delinsTCG (p.Leu272=) c.1328_1330delinsTCG (p.Leu443=) c.986_988delinsTCG (p.Leu329=) c.1334_1336delinsTCG (p.Leu445=) c.1298_1300delinsTCG (p.Leu433=) c.478_480delinsTCG c.26_28delinsTCG (p.Leu9=) c.1388_1390delinsTCG (p.Leu463=) c.1292_1294delinsTCG (p.Leu431=) c.899_901delinsTCG (p.Leu300=) c.1295_1297delinsTCG (p.Leu432=) c.326_328delinsTCG (p.Leu109=) | |
| 20 | g.63415009G>A | CA291795 | KCNQ2 | c.1365C>T (p.Leu455=) c.1419C>T (p.Leu473=) c.816C>T (p.Leu272=) c.1329C>T (p.Leu443=) c.987C>T (p.Leu329=) c.1335C>T (p.Leu445=) c.1299C>T (p.Leu433=) c.479C>T c.27C>T (p.Leu9=) c.1389C>T (p.Leu463=) c.1293C>T (p.Leu431=) c.900C>T (p.Leu300=) c.1296C>T (p.Leu432=) c.327C>T (p.Leu109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415009G>C | CA511339718 | KCNQ2 | c.1365C>G (p.Leu455=) c.1419C>G (p.Leu473=) c.816C>G (p.Leu272=) c.1329C>G (p.Leu443=) c.987C>G (p.Leu329=) c.1335C>G (p.Leu445=) c.1299C>G (p.Leu433=) c.479C>G c.27C>G (p.Leu9=) c.1389C>G (p.Leu463=) c.1293C>G (p.Leu431=) c.900C>G (p.Leu300=) c.1296C>G (p.Leu432=) c.327C>G (p.Leu109=) | gnomAD v4 |
| 20 | g.63415009G= | CA2374778808 | KCNQ2 | c.1365C= (p.Leu455=) c.1419C= (p.Leu473=) c.816C= (p.Leu272=) c.1329C= (p.Leu443=) c.987C= (p.Leu329=) c.1335C= (p.Leu445=) c.1299C= (p.Leu433=) c.479C= c.27C= (p.Leu9=) c.1389C= (p.Leu463=) c.1293C= (p.Leu431=) c.900C= (p.Leu300=) c.1296C= (p.Leu432=) c.327C= (p.Leu109=) | |
| 20 | g.63415009G>T | CA511339719 | KCNQ2 | c.1365C>A (p.Leu455=) c.1419C>A (p.Leu473=) c.816C>A (p.Leu272=) c.1329C>A (p.Leu443=) c.987C>A (p.Leu329=) c.1335C>A (p.Leu445=) c.1299C>A (p.Leu433=) c.479C>A c.27C>A (p.Leu9=) c.1389C>A (p.Leu463=) c.1293C>A (p.Leu431=) c.900C>A (p.Leu300=) c.1296C>A (p.Leu432=) c.327C>A (p.Leu109=) | |
| 20 | g.63415010_63415011del | CA10654789 | KCNQ2 | c.1364_1365del (p.Leu455ArgfsTer?) c.1418_1419del (p.Leu473ArgfsTer?) c.815_816del (p.Leu272ArgfsTer?) c.1328_1329del (p.Leu443ArgfsTer?) c.986_987del (p.Leu329ArgfsTer?) c.1334_1335del (p.Leu445ArgfsTer?) c.1298_1299del (p.Leu433ArgfsTer?) c.478_479del c.26_27del (p.Leu9ArgfsTer?) c.1388_1389del (p.Leu463ArgfsTer?) c.1292_1293del (p.Leu431ArgfsTer?) c.899_900del (p.Leu300ArgfsTer?) c.1295_1296del (p.Leu432ArgfsTer?) c.326_327del (p.Leu109ArgfsTer?) | ClinVar dbSNP |
| 20 | g.63415010A>C | CA409646610 | KCNQ2 | c.1364T>G (p.Leu455Arg) c.1418T>G (p.Leu473Arg) c.815T>G (p.Leu272Arg) c.1328T>G (p.Leu443Arg) c.986T>G (p.Leu329Arg) c.1334T>G (p.Leu445Arg) c.1298T>G (p.Leu433Arg) c.478T>G c.26T>G (p.Leu9Arg) c.1388T>G (p.Leu463Arg) c.1292T>G (p.Leu431Arg) c.899T>G (p.Leu300Arg) c.1295T>G (p.Leu432Arg) c.326T>G (p.Leu109Arg) | |
| 20 | g.63415010A>G | CA409646612 | KCNQ2 | c.1364T>C (p.Leu455Pro) c.1418T>C (p.Leu473Pro) c.815T>C (p.Leu272Pro) c.1328T>C (p.Leu443Pro) c.986T>C (p.Leu329Pro) c.1334T>C (p.Leu445Pro) c.1298T>C (p.Leu433Pro) c.478T>C c.26T>C (p.Leu9Pro) c.1388T>C (p.Leu463Pro) c.1292T>C (p.Leu431Pro) c.899T>C (p.Leu300Pro) c.1295T>C (p.Leu432Pro) c.326T>C (p.Leu109Pro) | dbSNP |
| 20 | g.63415010A>T | CA409646614 | KCNQ2 | c.1364T>A (p.Leu455His) c.1418T>A (p.Leu473His) c.815T>A (p.Leu272His) c.1328T>A (p.Leu443His) c.986T>A (p.Leu329His) c.1334T>A (p.Leu445His) c.1298T>A (p.Leu433His) c.478T>A c.26T>A (p.Leu9His) c.1388T>A (p.Leu463His) c.1292T>A (p.Leu431His) c.899T>A (p.Leu300His) c.1295T>A (p.Leu432His) c.326T>A (p.Leu109His) | dbSNP |
| 20 | g.63415011G>A | CA409646616 | KCNQ2 | c.1363C>T (p.Leu455Phe) c.1417C>T (p.Leu473Phe) c.814C>T (p.Leu272Phe) c.1327C>T (p.Leu443Phe) c.985C>T (p.Leu329Phe) c.1333C>T (p.Leu445Phe) c.1297C>T (p.Leu433Phe) c.477C>T c.25C>T (p.Leu9Phe) c.1387C>T (p.Leu463Phe) c.1291C>T (p.Leu431Phe) c.898C>T (p.Leu300Phe) c.1294C>T (p.Leu432Phe) c.325C>T (p.Leu109Phe) | |
| 20 | g.63415011G>C | CA409646617 | KCNQ2 | c.1363C>G (p.Leu455Val) c.1417C>G (p.Leu473Val) c.814C>G (p.Leu272Val) c.1327C>G (p.Leu443Val) c.985C>G (p.Leu329Val) c.1333C>G (p.Leu445Val) c.1297C>G (p.Leu433Val) c.477C>G c.25C>G (p.Leu9Val) c.1387C>G (p.Leu463Val) c.1291C>G (p.Leu431Val) c.898C>G (p.Leu300Val) c.1294C>G (p.Leu432Val) c.325C>G (p.Leu109Val) | |
| 20 | g.63415011G>T | CA409646618 | KCNQ2 | c.1363C>A (p.Leu455Ile) c.1417C>A (p.Leu473Ile) c.814C>A (p.Leu272Ile) c.1327C>A (p.Leu443Ile) c.985C>A (p.Leu329Ile) c.1333C>A (p.Leu445Ile) c.1297C>A (p.Leu433Ile) c.477C>A c.25C>A (p.Leu9Ile) c.1387C>A (p.Leu463Ile) c.1291C>A (p.Leu431Ile) c.898C>A (p.Leu300Ile) c.1294C>A (p.Leu432Ile) c.325C>A (p.Leu109Ile) | |
| 20 | g.63415012G>A | CA511339720 | KCNQ2 | c.1362C>T (p.Ser454=) c.1416C>T (p.Ser472=) c.813C>T (p.Ser271=) c.1326C>T (p.Ser442=) c.984C>T (p.Ser328=) c.1332C>T (p.Ser444=) c.1296C>T (p.Ser432=) c.476C>T c.24C>T (p.Ser8=) c.1386C>T (p.Ser462=) c.1290C>T (p.Ser430=) c.897C>T (p.Ser299=) c.1293C>T (p.Ser431=) c.324C>T (p.Ser108=) | |
| 20 | g.63415012G>C | CA409646621 | KCNQ2 | c.1362C>G (p.Ser454Arg) c.1416C>G (p.Ser472Arg) c.813C>G (p.Ser271Arg) c.1326C>G (p.Ser442Arg) c.984C>G (p.Ser328Arg) c.1332C>G (p.Ser444Arg) c.1296C>G (p.Ser432Arg) c.476C>G c.24C>G (p.Ser8Arg) c.1386C>G (p.Ser462Arg) c.1290C>G (p.Ser430Arg) c.897C>G (p.Ser299Arg) c.1293C>G (p.Ser431Arg) c.324C>G (p.Ser108Arg) | |
| 20 | g.63415012G>T | CA409646622 | KCNQ2 | c.1362C>A (p.Ser454Arg) c.1416C>A (p.Ser472Arg) c.813C>A (p.Ser271Arg) c.1326C>A (p.Ser442Arg) c.984C>A (p.Ser328Arg) c.1332C>A (p.Ser444Arg) c.1296C>A (p.Ser432Arg) c.476C>A c.24C>A (p.Ser8Arg) c.1386C>A (p.Ser462Arg) c.1290C>A (p.Ser430Arg) c.897C>A (p.Ser299Arg) c.1293C>A (p.Ser431Arg) c.324C>A (p.Ser108Arg) | gnomAD v4 |
| 20 | g.63415013C>A | CA409646624 | KCNQ2 | c.1361G>T (p.Ser454Ile) c.1415G>T (p.Ser472Ile) c.812G>T (p.Ser271Ile) c.1325G>T (p.Ser442Ile) c.983G>T (p.Ser328Ile) c.1331G>T (p.Ser444Ile) c.1295G>T (p.Ser432Ile) c.475G>T c.23G>T (p.Ser8Ile) c.1385G>T (p.Ser462Ile) c.1289G>T (p.Ser430Ile) c.896G>T (p.Ser299Ile) c.1292G>T (p.Ser431Ile) c.323G>T (p.Ser108Ile) | gnomAD v4 |
| 20 | g.63415013C= | CA2374778809 | KCNQ2 | c.1361G= (p.Ser454=) c.1415G= (p.Ser472=) c.812G= (p.Ser271=) c.1325G= (p.Ser442=) c.983G= (p.Ser328=) c.1331G= (p.Ser444=) c.1295G= (p.Ser432=) c.475G= c.23G= (p.Ser8=) c.1385G= (p.Ser462=) c.1289G= (p.Ser430=) c.896G= (p.Ser299=) c.1292G= (p.Ser431=) c.323G= (p.Ser108=) | |
| 20 | g.63415013C>G | CA409646626 | KCNQ2 | c.1361G>C (p.Ser454Thr) c.1415G>C (p.Ser472Thr) c.812G>C (p.Ser271Thr) c.1325G>C (p.Ser442Thr) c.983G>C (p.Ser328Thr) c.1331G>C (p.Ser444Thr) c.1295G>C (p.Ser432Thr) c.475G>C c.23G>C (p.Ser8Thr) c.1385G>C (p.Ser462Thr) c.1289G>C (p.Ser430Thr) c.896G>C (p.Ser299Thr) c.1292G>C (p.Ser431Thr) c.323G>C (p.Ser108Thr) | |
| 20 | g.63415013C>T | CA409646627 | KCNQ2 | c.1361G>A (p.Ser454Asn) c.1415G>A (p.Ser472Asn) c.812G>A (p.Ser271Asn) c.1325G>A (p.Ser442Asn) c.983G>A (p.Ser328Asn) c.1331G>A (p.Ser444Asn) c.1295G>A (p.Ser432Asn) c.475G>A c.23G>A (p.Ser8Asn) c.1385G>A (p.Ser462Asn) c.1289G>A (p.Ser430Asn) c.896G>A (p.Ser299Asn) c.1292G>A (p.Ser431Asn) c.323G>A (p.Ser108Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63415014T>A | CA409646629 | KCNQ2 | c.1360A>T (p.Ser454Cys) c.1414A>T (p.Ser472Cys) c.811A>T (p.Ser271Cys) c.1324A>T (p.Ser442Cys) c.982A>T (p.Ser328Cys) c.1330A>T (p.Ser444Cys) c.1294A>T (p.Ser432Cys) c.474A>T c.22A>T (p.Ser8Cys) c.1384A>T (p.Ser462Cys) c.1288A>T (p.Ser430Cys) c.895A>T (p.Ser299Cys) c.1291A>T (p.Ser431Cys) c.322A>T (p.Ser108Cys) | gnomAD v4 COSMIC |
| 20 | g.63415014T>C | CA409646630 | KCNQ2 | c.1360A>G (p.Ser454Gly) c.1414A>G (p.Ser472Gly) c.811A>G (p.Ser271Gly) c.1324A>G (p.Ser442Gly) c.982A>G (p.Ser328Gly) c.1330A>G (p.Ser444Gly) c.1294A>G (p.Ser432Gly) c.474A>G c.22A>G (p.Ser8Gly) c.1384A>G (p.Ser462Gly) c.1288A>G (p.Ser430Gly) c.895A>G (p.Ser299Gly) c.1291A>G (p.Ser431Gly) c.322A>G (p.Ser108Gly) | ClinVar |
| 20 | g.63415014T>G | CA409646632 | KCNQ2 | c.1360A>C (p.Ser454Arg) c.1414A>C (p.Ser472Arg) c.811A>C (p.Ser271Arg) c.1324A>C (p.Ser442Arg) c.982A>C (p.Ser328Arg) c.1330A>C (p.Ser444Arg) c.1294A>C (p.Ser432Arg) c.474A>C c.22A>C (p.Ser8Arg) c.1384A>C (p.Ser462Arg) c.1288A>C (p.Ser430Arg) c.895A>C (p.Ser299Arg) c.1291A>C (p.Ser431Arg) c.322A>C (p.Ser108Arg) | |
| 20 | g.63415015C>A | CA409646634 | KCNQ2 | c.1359G>T (p.Gln453His) c.1413G>T (p.Gln471His) c.810G>T (p.Gln270His) c.1323G>T (p.Gln441His) c.981G>T (p.Gln327His) c.1329G>T (p.Gln443His) c.1293G>T (p.Gln431His) c.473G>T c.21G>T (p.Gln7His) c.1383G>T (p.Gln461His) c.1287G>T (p.Gln429His) c.894G>T (p.Gln298His) c.1290G>T (p.Gln430His) c.321G>T (p.Gln107His) | |
| 20 | g.63415015C= | CA2374778810 | KCNQ2 | c.1359G= (p.Gln453=) c.1413G= (p.Gln471=) c.810G= (p.Gln270=) c.1323G= (p.Gln441=) c.981G= (p.Gln327=) c.1329G= (p.Gln443=) c.1293G= (p.Gln431=) c.473G= c.21G= (p.Gln7=) c.1383G= (p.Gln461=) c.1287G= (p.Gln429=) c.894G= (p.Gln298=) c.1290G= (p.Gln430=) c.321G= (p.Gln107=) | |
| 20 | g.63415015C>G | CA409646636 | KCNQ2 | c.1359G>C (p.Gln453His) c.1413G>C (p.Gln471His) c.810G>C (p.Gln270His) c.1323G>C (p.Gln441His) c.981G>C (p.Gln327His) c.1329G>C (p.Gln443His) c.1293G>C (p.Gln431His) c.473G>C c.21G>C (p.Gln7His) c.1383G>C (p.Gln461His) c.1287G>C (p.Gln429His) c.894G>C (p.Gln298His) c.1290G>C (p.Gln430His) c.321G>C (p.Gln107His) | |
| 20 | g.63415015C>T | CA317431041 | KCNQ2 | c.1359G>A (p.Gln453=) c.1413G>A (p.Gln471=) c.810G>A (p.Gln270=) c.1323G>A (p.Gln441=) c.981G>A (p.Gln327=) c.1329G>A (p.Gln443=) c.1293G>A (p.Gln431=) c.473G>A c.21G>A (p.Gln7=) c.1383G>A (p.Gln461=) c.1287G>A (p.Gln429=) c.894G>A (p.Gln298=) c.1290G>A (p.Gln430=) c.321G>A (p.Gln107=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63415016T>A | CA409646638 | KCNQ2 | c.1358A>T (p.Gln453Leu) c.1412A>T (p.Gln471Leu) c.809A>T (p.Gln270Leu) c.1322A>T (p.Gln441Leu) c.980A>T (p.Gln327Leu) c.1328A>T (p.Gln443Leu) c.1292A>T (p.Gln431Leu) c.472A>T c.20A>T (p.Gln7Leu) c.1382A>T (p.Gln461Leu) c.1286A>T (p.Gln429Leu) c.893A>T (p.Gln298Leu) c.1289A>T (p.Gln430Leu) c.320A>T (p.Gln107Leu) | |
| 20 | g.63415016T>C | CA409646639 | KCNQ2 | c.1358A>G (p.Gln453Arg) c.1412A>G (p.Gln471Arg) c.809A>G (p.Gln270Arg) c.1322A>G (p.Gln441Arg) c.980A>G (p.Gln327Arg) c.1328A>G (p.Gln443Arg) c.1292A>G (p.Gln431Arg) c.472A>G c.20A>G (p.Gln7Arg) c.1382A>G (p.Gln461Arg) c.1286A>G (p.Gln429Arg) c.893A>G (p.Gln298Arg) c.1289A>G (p.Gln430Arg) c.320A>G (p.Gln107Arg) | |
| 20 | g.63415016T>G | CA409646641 | KCNQ2 | c.1358A>C (p.Gln453Pro) c.1412A>C (p.Gln471Pro) c.809A>C (p.Gln270Pro) c.1322A>C (p.Gln441Pro) c.980A>C (p.Gln327Pro) c.1328A>C (p.Gln443Pro) c.1292A>C (p.Gln431Pro) c.472A>C c.20A>C (p.Gln7Pro) c.1382A>C (p.Gln461Pro) c.1286A>C (p.Gln429Pro) c.893A>C (p.Gln298Pro) c.1289A>C (p.Gln430Pro) c.320A>C (p.Gln107Pro) | |
| 20 | g.63415017G>A | CA409646645 | KCNQ2 | c.1357C>T (p.Gln453Ter) c.1411C>T (p.Gln471Ter) c.808C>T (p.Gln270Ter) c.1321C>T (p.Gln441Ter) c.979C>T (p.Gln327Ter) c.1327C>T (p.Gln443Ter) c.1291C>T (p.Gln431Ter) c.471C>T c.19C>T (p.Gln7Ter) c.1381C>T (p.Gln461Ter) c.1285C>T (p.Gln429Ter) c.892C>T (p.Gln298Ter) c.1288C>T (p.Gln430Ter) c.319C>T (p.Gln107Ter) | ClinVar |
| 20 | g.63415017G>C | CA409646644 | KCNQ2 | c.1357C>G (p.Gln453Glu) c.1411C>G (p.Gln471Glu) c.808C>G (p.Gln270Glu) c.1321C>G (p.Gln441Glu) c.979C>G (p.Gln327Glu) c.1327C>G (p.Gln443Glu) c.1291C>G (p.Gln431Glu) c.471C>G c.19C>G (p.Gln7Glu) c.1381C>G (p.Gln461Glu) c.1285C>G (p.Gln429Glu) c.892C>G (p.Gln298Glu) c.1288C>G (p.Gln430Glu) c.319C>G (p.Gln107Glu) | |
| 20 | g.63415017G>T | CA409646643 | KCNQ2 | c.1357C>A (p.Gln453Lys) c.1411C>A (p.Gln471Lys) c.808C>A (p.Gln270Lys) c.1321C>A (p.Gln441Lys) c.979C>A (p.Gln327Lys) c.1327C>A (p.Gln443Lys) c.1291C>A (p.Gln431Lys) c.471C>A c.19C>A (p.Gln7Lys) c.1381C>A (p.Gln461Lys) c.1285C>A (p.Gln429Lys) c.892C>A (p.Gln298Lys) c.1288C>A (p.Gln430Lys) c.319C>A (p.Gln107Lys) | |
| 20 | g.63415018G>A | CA511339721 | KCNQ2 | c.1356C>T (p.Asp452=) c.1410C>T (p.Asp470=) c.807C>T (p.Asp269=) c.1320C>T (p.Asp440=) c.978C>T (p.Asp326=) c.1326C>T (p.Asp442=) c.1290C>T (p.Asp430=) c.470C>T c.18C>T (p.Asp6=) c.1380C>T (p.Asp460=) c.1284C>T (p.Asp428=) c.891C>T (p.Asp297=) c.1287C>T (p.Asp429=) c.318C>T (p.Asp106=) | gnomAD v4 |
| 20 | g.63415018G>C | CA409646646 | KCNQ2 | c.1356C>G (p.Asp452Glu) c.1410C>G (p.Asp470Glu) c.807C>G (p.Asp269Glu) c.1320C>G (p.Asp440Glu) c.978C>G (p.Asp326Glu) c.1326C>G (p.Asp442Glu) c.1290C>G (p.Asp430Glu) c.470C>G c.18C>G (p.Asp6Glu) c.1380C>G (p.Asp460Glu) c.1284C>G (p.Asp428Glu) c.891C>G (p.Asp297Glu) c.1287C>G (p.Asp429Glu) c.318C>G (p.Asp106Glu) | ClinVar |
| 20 | g.63415018G= | CA2374778811 | KCNQ2 | c.1356C= (p.Asp452=) c.1410C= (p.Asp470=) c.807C= (p.Asp269=) c.1320C= (p.Asp440=) c.978C= (p.Asp326=) c.1326C= (p.Asp442=) c.1290C= (p.Asp430=) c.470C= c.18C= (p.Asp6=) c.1380C= (p.Asp460=) c.1284C= (p.Asp428=) c.891C= (p.Asp297=) c.1287C= (p.Asp429=) c.318C= (p.Asp106=) | |
| 20 | g.63415018G>T | CA409646647 | KCNQ2 | c.1356C>A (p.Asp452Glu) c.1410C>A (p.Asp470Glu) c.807C>A (p.Asp269Glu) c.1320C>A (p.Asp440Glu) c.978C>A (p.Asp326Glu) c.1326C>A (p.Asp442Glu) c.1290C>A (p.Asp430Glu) c.470C>A c.18C>A (p.Asp6Glu) c.1380C>A (p.Asp460Glu) c.1284C>A (p.Asp428Glu) c.891C>A (p.Asp297Glu) c.1287C>A (p.Asp429Glu) c.318C>A (p.Asp106Glu) | dbSNP |
| 20 | g.63415019T>A | CA409646648 | KCNQ2 | c.1355A>T (p.Asp452Val) c.1409A>T (p.Asp470Val) c.806A>T (p.Asp269Val) c.1319A>T (p.Asp440Val) c.977A>T (p.Asp326Val) c.1325A>T (p.Asp442Val) c.1289A>T (p.Asp430Val) c.469A>T c.17A>T (p.Asp6Val) c.1379A>T (p.Asp460Val) c.1283A>T (p.Asp428Val) c.890A>T (p.Asp297Val) c.1286A>T (p.Asp429Val) c.317A>T (p.Asp106Val) | |
| 20 | g.63415019T>C | CA409646650 | KCNQ2 | c.1355A>G (p.Asp452Gly) c.1409A>G (p.Asp470Gly) c.806A>G (p.Asp269Gly) c.1319A>G (p.Asp440Gly) c.977A>G (p.Asp326Gly) c.1325A>G (p.Asp442Gly) c.1289A>G (p.Asp430Gly) c.469A>G c.17A>G (p.Asp6Gly) c.1379A>G (p.Asp460Gly) c.1283A>G (p.Asp428Gly) c.890A>G (p.Asp297Gly) c.1286A>G (p.Asp429Gly) c.317A>G (p.Asp106Gly) | dbSNP |
| 20 | g.63415019T>G | CA409646649 | KCNQ2 | c.1355A>C (p.Asp452Ala) c.1409A>C (p.Asp470Ala) c.806A>C (p.Asp269Ala) c.1319A>C (p.Asp440Ala) c.977A>C (p.Asp326Ala) c.1325A>C (p.Asp442Ala) c.1289A>C (p.Asp430Ala) c.469A>C c.17A>C (p.Asp6Ala) c.1379A>C (p.Asp460Ala) c.1283A>C (p.Asp428Ala) c.890A>C (p.Asp297Ala) c.1286A>C (p.Asp429Ala) c.317A>C (p.Asp106Ala) | |
| 20 | g.63415020C>A | CA409646651 | KCNQ2 | c.1354G>T (p.Asp452Tyr) c.1408G>T (p.Asp470Tyr) c.805G>T (p.Asp269Tyr) c.1318G>T (p.Asp440Tyr) c.976G>T (p.Asp326Tyr) c.1324G>T (p.Asp442Tyr) c.1288G>T (p.Asp430Tyr) c.468G>T c.16G>T (p.Asp6Tyr) c.1378G>T (p.Asp460Tyr) c.1282G>T (p.Asp428Tyr) c.889G>T (p.Asp297Tyr) c.1285G>T (p.Asp429Tyr) c.316G>T (p.Asp106Tyr) | |
| 20 | g.63415020C= | CA2374778812 | KCNQ2 | c.1354G= (p.Asp452=) c.1408G= (p.Asp470=) c.805G= (p.Asp269=) c.1318G= (p.Asp440=) c.976G= (p.Asp326=) c.1324G= (p.Asp442=) c.1288G= (p.Asp430=) c.468G= c.16G= (p.Asp6=) c.1378G= (p.Asp460=) c.1282G= (p.Asp428=) c.889G= (p.Asp297=) c.1285G= (p.Asp429=) c.316G= (p.Asp106=) | |
| 20 | g.63415020C>G | CA409646652 | KCNQ2 | c.1354G>C (p.Asp452His) c.1408G>C (p.Asp470His) c.805G>C (p.Asp269His) c.1318G>C (p.Asp440His) c.976G>C (p.Asp326His) c.1324G>C (p.Asp442His) c.1288G>C (p.Asp430His) c.468G>C c.16G>C (p.Asp6His) c.1378G>C (p.Asp460His) c.1282G>C (p.Asp428His) c.889G>C (p.Asp297His) c.1285G>C (p.Asp429His) c.316G>C (p.Asp106His) | ClinVar dbSNP |
| 20 | g.63415020C>T | CA9958459 | KCNQ2 | c.1354G>A (p.Asp452Asn) c.1408G>A (p.Asp470Asn) c.805G>A (p.Asp269Asn) c.1318G>A (p.Asp440Asn) c.976G>A (p.Asp326Asn) c.1324G>A (p.Asp442Asn) c.1288G>A (p.Asp430Asn) c.468G>A c.16G>A (p.Asp6Asn) c.1378G>A (p.Asp460Asn) c.1282G>A (p.Asp428Asn) c.889G>A (p.Asp297Asn) c.1285G>A (p.Asp429Asn) c.316G>A (p.Asp106Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415021G>A | CA9958460 | KCNQ2 | c.1353C>T (p.Ala451=) c.1407C>T (p.Ala469=) c.804C>T (p.Ala268=) c.1317C>T (p.Ala439=) c.975C>T (p.Ala325=) c.1323C>T (p.Ala441=) c.1287C>T (p.Ala429=) c.467C>T c.15C>T (p.Ala5=) c.1377C>T (p.Ala459=) c.1281C>T (p.Ala427=) c.888C>T (p.Ala296=) c.1284C>T (p.Ala428=) c.315C>T (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63415021G>C | CA511339724 | KCNQ2 | c.1353C>G (p.Ala451=) c.1407C>G (p.Ala469=) c.804C>G (p.Ala268=) c.1317C>G (p.Ala439=) c.975C>G (p.Ala325=) c.1323C>G (p.Ala441=) c.1287C>G (p.Ala429=) c.467C>G c.15C>G (p.Ala5=) c.1377C>G (p.Ala459=) c.1281C>G (p.Ala427=) c.888C>G (p.Ala296=) c.1284C>G (p.Ala428=) c.315C>G (p.Ala105=) | |
| 20 | g.63415021G= | CA2374778813 | KCNQ2 | c.1353C= (p.Ala451=) c.1407C= (p.Ala469=) c.804C= (p.Ala268=) c.1317C= (p.Ala439=) c.975C= (p.Ala325=) c.1323C= (p.Ala441=) c.1287C= (p.Ala429=) c.467C= c.15C= (p.Ala5=) c.1377C= (p.Ala459=) c.1281C= (p.Ala427=) c.888C= (p.Ala296=) c.1284C= (p.Ala428=) c.315C= (p.Ala105=) | |
| 20 | g.63415021G>T | CA511339726 | KCNQ2 | c.1353C>A (p.Ala451=) c.1407C>A (p.Ala469=) c.804C>A (p.Ala268=) c.1317C>A (p.Ala439=) c.975C>A (p.Ala325=) c.1323C>A (p.Ala441=) c.1287C>A (p.Ala429=) c.467C>A c.15C>A (p.Ala5=) c.1377C>A (p.Ala459=) c.1281C>A (p.Ala427=) c.888C>A (p.Ala296=) c.1284C>A (p.Ala428=) c.315C>A (p.Ala105=) | |
| 20 | g.63415022G>A | CA409646653 | KCNQ2 | c.1352C>T (p.Ala451Val) c.1406C>T (p.Ala469Val) c.803C>T (p.Ala268Val) c.1316C>T (p.Ala439Val) c.974C>T (p.Ala325Val) c.1322C>T (p.Ala441Val) c.1286C>T (p.Ala429Val) c.466C>T c.14C>T (p.Ala5Val) c.1376C>T (p.Ala459Val) c.1280C>T (p.Ala427Val) c.887C>T (p.Ala296Val) c.1283C>T (p.Ala428Val) c.314C>T (p.Ala105Val) | |
| 20 | g.63415022G>C | CA409646654 | KCNQ2 | c.1352C>G (p.Ala451Gly) c.1406C>G (p.Ala469Gly) c.803C>G (p.Ala268Gly) c.1316C>G (p.Ala439Gly) c.974C>G (p.Ala325Gly) c.1322C>G (p.Ala441Gly) c.1286C>G (p.Ala429Gly) c.466C>G c.14C>G (p.Ala5Gly) c.1376C>G (p.Ala459Gly) c.1280C>G (p.Ala427Gly) c.887C>G (p.Ala296Gly) c.1283C>G (p.Ala428Gly) c.314C>G (p.Ala105Gly) |