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.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) | ClinVar 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) | |
| 20 | g.63415022G>T | CA409646655 | KCNQ2 | c.1352C>A (p.Ala451Asp) c.1406C>A (p.Ala469Asp) c.803C>A (p.Ala268Asp) c.1316C>A (p.Ala439Asp) c.974C>A (p.Ala325Asp) c.1322C>A (p.Ala441Asp) c.1286C>A (p.Ala429Asp) c.466C>A c.14C>A (p.Ala5Asp) c.1376C>A (p.Ala459Asp) c.1280C>A (p.Ala427Asp) c.887C>A (p.Ala296Asp) c.1283C>A (p.Ala428Asp) c.314C>A (p.Ala105Asp) | |
| 20 | g.63415023C>A | CA409646656 | KCNQ2 | c.1351G>T (p.Ala451Ser) c.1405G>T (p.Ala469Ser) c.802G>T (p.Ala268Ser) c.1315G>T (p.Ala439Ser) c.973G>T (p.Ala325Ser) c.1321G>T (p.Ala441Ser) c.1285G>T (p.Ala429Ser) c.465G>T c.13G>T (p.Ala5Ser) c.1375G>T (p.Ala459Ser) c.1279G>T (p.Ala427Ser) c.886G>T (p.Ala296Ser) c.1282G>T (p.Ala428Ser) c.313G>T (p.Ala105Ser) | |
| 20 | g.63415023C= | CA2374778814 | KCNQ2 | c.1351G= (p.Ala451=) c.1405G= (p.Ala469=) c.802G= (p.Ala268=) c.1315G= (p.Ala439=) c.973G= (p.Ala325=) c.1321G= (p.Ala441=) c.1285G= (p.Ala429=) c.465G= c.13G= (p.Ala5=) c.1375G= (p.Ala459=) c.1279G= (p.Ala427=) c.886G= (p.Ala296=) c.1282G= (p.Ala428=) c.313G= (p.Ala105=) | |
| 20 | g.63415023C>G | CA409646657 | KCNQ2 | c.1351G>C (p.Ala451Pro) c.1405G>C (p.Ala469Pro) c.802G>C (p.Ala268Pro) c.1315G>C (p.Ala439Pro) c.973G>C (p.Ala325Pro) c.1321G>C (p.Ala441Pro) c.1285G>C (p.Ala429Pro) c.465G>C c.13G>C (p.Ala5Pro) c.1375G>C (p.Ala459Pro) c.1279G>C (p.Ala427Pro) c.886G>C (p.Ala296Pro) c.1282G>C (p.Ala428Pro) c.313G>C (p.Ala105Pro) | |
| 20 | g.63415023C>T | CA315445 | KCNQ2 | c.1351G>A (p.Ala451Thr) c.1405G>A (p.Ala469Thr) c.802G>A (p.Ala268Thr) c.1315G>A (p.Ala439Thr) c.973G>A (p.Ala325Thr) c.1321G>A (p.Ala441Thr) c.1285G>A (p.Ala429Thr) c.465G>A c.13G>A (p.Ala5Thr) c.1375G>A (p.Ala459Thr) c.1279G>A (p.Ala427Thr) c.886G>A (p.Ala296Thr) c.1282G>A (p.Ala428Thr) c.313G>A (p.Ala105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63415024G>A | CA9958461 | KCNQ2 | c.1350C>T (p.Ser450=) c.1404C>T (p.Ser468=) c.801C>T (p.Ser267=) c.1314C>T (p.Ser438=) c.972C>T (p.Ser324=) c.1320C>T (p.Ser440=) c.1284C>T (p.Ser428=) c.464C>T c.12C>T (p.Ser4=) c.1374C>T (p.Ser458=) c.1278C>T (p.Ser426=) c.885C>T (p.Ser295=) c.1281C>T (p.Ser427=) c.312C>T (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415024G>C | CA409646658 | KCNQ2 | c.1350C>G (p.Ser450Arg) c.1404C>G (p.Ser468Arg) c.801C>G (p.Ser267Arg) c.1314C>G (p.Ser438Arg) c.972C>G (p.Ser324Arg) c.1320C>G (p.Ser440Arg) c.1284C>G (p.Ser428Arg) c.464C>G c.12C>G (p.Ser4Arg) c.1374C>G (p.Ser458Arg) c.1278C>G (p.Ser426Arg) c.885C>G (p.Ser295Arg) c.1281C>G (p.Ser427Arg) c.312C>G (p.Ser104Arg) | |
| 20 | g.63415024G= | CA2374778815 | KCNQ2 | c.1350C= (p.Ser450=) c.1404C= (p.Ser468=) c.801C= (p.Ser267=) c.1314C= (p.Ser438=) c.972C= (p.Ser324=) c.1320C= (p.Ser440=) c.1284C= (p.Ser428=) c.464C= c.12C= (p.Ser4=) c.1374C= (p.Ser458=) c.1278C= (p.Ser426=) c.885C= (p.Ser295=) c.1281C= (p.Ser427=) c.312C= (p.Ser104=) | |
| 20 | g.63415024G>T | CA409646659 | KCNQ2 | c.1350C>A (p.Ser450Arg) c.1404C>A (p.Ser468Arg) c.801C>A (p.Ser267Arg) c.1314C>A (p.Ser438Arg) c.972C>A (p.Ser324Arg) c.1320C>A (p.Ser440Arg) c.1284C>A (p.Ser428Arg) c.464C>A c.12C>A (p.Ser4Arg) c.1374C>A (p.Ser458Arg) c.1278C>A (p.Ser426Arg) c.885C>A (p.Ser295Arg) c.1281C>A (p.Ser427Arg) c.312C>A (p.Ser104Arg) | gnomAD v4 |
| 20 | g.63415025C>A | CA409646660 | KCNQ2 | c.1349G>T (p.Ser450Ile) c.1403G>T (p.Ser468Ile) c.800G>T (p.Ser267Ile) c.1313G>T (p.Ser438Ile) c.971G>T (p.Ser324Ile) c.1319G>T (p.Ser440Ile) c.1283G>T (p.Ser428Ile) c.463G>T c.11G>T (p.Ser4Ile) c.1373G>T (p.Ser458Ile) c.1277G>T (p.Ser426Ile) c.884G>T (p.Ser295Ile) c.1280G>T (p.Ser427Ile) c.311G>T (p.Ser104Ile) | |
| 20 | g.63415025C>G | CA409646662 | KCNQ2 | c.1349G>C (p.Ser450Thr) c.1403G>C (p.Ser468Thr) c.800G>C (p.Ser267Thr) c.1313G>C (p.Ser438Thr) c.971G>C (p.Ser324Thr) c.1319G>C (p.Ser440Thr) c.1283G>C (p.Ser428Thr) c.463G>C c.11G>C (p.Ser4Thr) c.1373G>C (p.Ser458Thr) c.1277G>C (p.Ser426Thr) c.884G>C (p.Ser295Thr) c.1280G>C (p.Ser427Thr) c.311G>C (p.Ser104Thr) | |
| 20 | g.63415025C>T | CA409646661 | KCNQ2 | c.1349G>A (p.Ser450Asn) c.1403G>A (p.Ser468Asn) c.800G>A (p.Ser267Asn) c.1313G>A (p.Ser438Asn) c.971G>A (p.Ser324Asn) c.1319G>A (p.Ser440Asn) c.1283G>A (p.Ser428Asn) c.463G>A c.11G>A (p.Ser4Asn) c.1373G>A (p.Ser458Asn) c.1277G>A (p.Ser426Asn) c.884G>A (p.Ser295Asn) c.1280G>A (p.Ser427Asn) c.311G>A (p.Ser104Asn) | |
| 20 | g.63415025dup | CA2697547458 | KCNQ2 | c.1349dup (p.Ser450ArgfsTer?) c.1403dup (p.Ser468ArgfsTer?) c.800dup (p.Ser267ArgfsTer?) c.1313dup (p.Ser438ArgfsTer?) c.971dup (p.Ser324ArgfsTer?) c.1319dup (p.Ser440ArgfsTer?) c.1283dup (p.Ser428ArgfsTer?) c.463dup c.11dup (p.Ser4ArgfsTer?) c.1373dup (p.Ser458ArgfsTer?) c.1277dup (p.Ser426ArgfsTer?) c.884dup (p.Ser295ArgfsTer?) c.1280dup (p.Ser427ArgfsTer?) c.311dup (p.Ser104ArgfsTer?) | ClinVar |
| 20 | g.63415026T>A | CA409646663 | KCNQ2 | c.1348A>T (p.Ser450Cys) c.1402A>T (p.Ser468Cys) c.799A>T (p.Ser267Cys) c.1312A>T (p.Ser438Cys) c.970A>T (p.Ser324Cys) c.1318A>T (p.Ser440Cys) c.1282A>T (p.Ser428Cys) c.462A>T c.10A>T (p.Ser4Cys) c.1372A>T (p.Ser458Cys) c.1276A>T (p.Ser426Cys) c.883A>T (p.Ser295Cys) c.1279A>T (p.Ser427Cys) c.310A>T (p.Ser104Cys) | |
| 20 | g.63415026T>C | CA409646664 | KCNQ2 | c.1348A>G (p.Ser450Gly) c.1402A>G (p.Ser468Gly) c.799A>G (p.Ser267Gly) c.1312A>G (p.Ser438Gly) c.970A>G (p.Ser324Gly) c.1318A>G (p.Ser440Gly) c.1282A>G (p.Ser428Gly) c.462A>G c.10A>G (p.Ser4Gly) c.1372A>G (p.Ser458Gly) c.1276A>G (p.Ser426Gly) c.883A>G (p.Ser295Gly) c.1279A>G (p.Ser427Gly) c.310A>G (p.Ser104Gly) |