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.63415082_63415104del | CA2580098422 | KCNQ2 | c.1274_1296del (p.Val425GlyfsTer?) c.1328_1350del (p.Val443GlyfsTer?) c.725_747del (p.Val242GlyfsTer?) n.75-10_87del c.1248-10_1260del c.906-10_918del c.1244_1266del (p.Val415GlyfsTer?) c.1218-10_1230del c.388_410del c.1298_1320del (p.Val433GlyfsTer?) c.1202_1224del (p.Val401GlyfsTer?) c.809_831del (p.Val270GlyfsTer?) c.1205_1227del (p.Val402GlyfsTer?) c.236_258del (p.Val79GlyfsTer?) | ClinVar |
| 20 | g.63415093G>A | CA511339595 | KCNQ2 | c.1281C>T (p.Ser427=) c.1335C>T (p.Ser445=) c.732C>T (p.Ser244=) n.75-3C>T c.1248-3C>T (n.1248-3C>T) c.906-3C>T (n.906-3C>T) c.1251C>T (p.Ser417=) c.1218-3C>T (n.1218-3C>T) c.395C>T c.1305C>T (p.Ser435=) c.1209C>T (p.Ser403=) c.816C>T (p.Ser272=) c.1212C>T (p.Ser404=) c.243C>T (p.Ser81=) | ClinVar dbSNP gnomAD v2 |
| 20 | g.63415093G>C | CA511339596 | KCNQ2 | c.1281C>G (p.Ser427=) c.1335C>G (p.Ser445=) c.732C>G (p.Ser244=) n.75-3C>G c.1248-3C>G (n.1248-3C>G) c.906-3C>G (n.906-3C>G) c.1251C>G (p.Ser417=) c.1218-3C>G (n.1218-3C>G) c.395C>G c.1305C>G (p.Ser435=) c.1209C>G (p.Ser403=) c.816C>G (p.Ser272=) c.1212C>G (p.Ser404=) c.243C>G (p.Ser81=) | |
| 20 | g.63415093G= | CA2374778853 | KCNQ2 | c.1281C= (p.Ser427=) c.1335C= (p.Ser445=) c.732C= (p.Ser244=) n.75-3C= c.1248-3C= (n.1248-3C=) c.906-3C= (n.906-3C=) c.1251C= (p.Ser417=) c.1218-3C= (n.1218-3C=) c.395C= c.1305C= (p.Ser435=) c.1209C= (p.Ser403=) c.816C= (p.Ser272=) c.1212C= (p.Ser404=) c.243C= (p.Ser81=) | |
| 20 | g.63415093G>T | CA511339597 | KCNQ2 | c.1281C>A (p.Ser427=) c.1335C>A (p.Ser445=) c.732C>A (p.Ser244=) n.75-3C>A c.1248-3C>A (n.1248-3C>A) c.906-3C>A (n.906-3C>A) c.1251C>A (p.Ser417=) c.1218-3C>A (n.1218-3C>A) c.395C>A c.1305C>A (p.Ser435=) c.1209C>A (p.Ser403=) c.816C>A (p.Ser272=) c.1212C>A (p.Ser404=) c.243C>A (p.Ser81=) | gnomAD v4 |
| 20 | g.63415094_63415096del | CA2653800739 | KCNQ2 | c.1279_1281del (p.Ser427del) c.1333_1335del (p.Ser445del) c.730_732del (p.Ser244del) n.75-5_75-3del c.1248-5_1248-3del (n.1248-5_1248-3del) c.906-5_906-3del (n.906-5_906-3del) c.1249_1251del (p.Ser417del) c.1218-5_1218-3del (n.1218-5_1218-3del) c.393_395del c.1303_1305del (p.Ser435del) c.1207_1209del (p.Ser403del) c.814_816del (p.Ser272del) c.1210_1212del (p.Ser404del) c.241_243del (p.Ser81del) | gnomAD v4 |
| 20 | g.63415094G>A | CA409646796 | KCNQ2 | c.1280C>T (p.Ser427Phe) c.1334C>T (p.Ser445Phe) c.731C>T (p.Ser244Phe) n.75-4C>T c.1248-4C>T (n.1248-4C>T) c.906-4C>T (n.906-4C>T) c.1250C>T (p.Ser417Phe) c.1218-4C>T (n.1218-4C>T) c.394C>T c.1304C>T (p.Ser435Phe) c.1208C>T (p.Ser403Phe) c.815C>T (p.Ser272Phe) c.1211C>T (p.Ser404Phe) c.242C>T (p.Ser81Phe) | dbSNP gnomAD v4 |
| 20 | g.63415094G>C | CA409646797 | KCNQ2 | c.1280C>G (p.Ser427Cys) c.1334C>G (p.Ser445Cys) c.731C>G (p.Ser244Cys) n.75-4C>G c.1248-4C>G (n.1248-4C>G) c.906-4C>G (n.906-4C>G) c.1250C>G (p.Ser417Cys) c.1218-4C>G (n.1218-4C>G) c.394C>G c.1304C>G (p.Ser435Cys) c.1208C>G (p.Ser403Cys) c.815C>G (p.Ser272Cys) c.1211C>G (p.Ser404Cys) c.242C>G (p.Ser81Cys) | dbSNP |
| 20 | g.63415094G= | CA2374778854 | KCNQ2 | c.1280C= (p.Ser427=) c.1334C= (p.Ser445=) c.731C= (p.Ser244=) n.75-4C= c.1248-4C= (n.1248-4C=) c.906-4C= (n.906-4C=) c.1250C= (p.Ser417=) c.1218-4C= (n.1218-4C=) c.394C= c.1304C= (p.Ser435=) c.1208C= (p.Ser403=) c.815C= (p.Ser272=) c.1211C= (p.Ser404=) c.242C= (p.Ser81=) | |
| 20 | g.63415094G>T | CA409646798 | KCNQ2 | c.1280C>A (p.Ser427Tyr) c.1334C>A (p.Ser445Tyr) c.731C>A (p.Ser244Tyr) n.75-4C>A c.1248-4C>A (n.1248-4C>A) c.906-4C>A (n.906-4C>A) c.1250C>A (p.Ser417Tyr) c.1218-4C>A (n.1218-4C>A) c.394C>A c.1304C>A (p.Ser435Tyr) c.1208C>A (p.Ser403Tyr) c.815C>A (p.Ser272Tyr) c.1211C>A (p.Ser404Tyr) c.242C>A (p.Ser81Tyr) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63415095A= | CA2374778855 | KCNQ2 | c.1279T= (p.Ser427=) c.1333T= (p.Ser445=) c.730T= (p.Ser244=) n.75-5T= c.1248-5T= (n.1248-5T=) c.906-5T= (n.906-5T=) c.1249T= (p.Ser417=) c.1218-5T= (n.1218-5T=) c.393T= c.1303T= (p.Ser435=) c.1207T= (p.Ser403=) c.814T= (p.Ser272=) c.1210T= (p.Ser404=) c.241T= (p.Ser81=) | |
| 20 | g.63415095A>C | CA409646799 | KCNQ2 | c.1279T>G (p.Ser427Ala) c.1333T>G (p.Ser445Ala) c.730T>G (p.Ser244Ala) n.75-5T>G c.1248-5T>G (n.1248-5T>G) c.906-5T>G (n.906-5T>G) c.1249T>G (p.Ser417Ala) c.1218-5T>G (n.1218-5T>G) c.393T>G c.1303T>G (p.Ser435Ala) c.1207T>G (p.Ser403Ala) c.814T>G (p.Ser272Ala) c.1210T>G (p.Ser404Ala) c.241T>G (p.Ser81Ala) | |
| 20 | g.63415095A>G | CA409646800 | KCNQ2 | c.1279T>C (p.Ser427Pro) c.1333T>C (p.Ser445Pro) c.730T>C (p.Ser244Pro) n.75-5T>C c.1248-5T>C (n.1248-5T>C) c.906-5T>C (n.906-5T>C) c.1249T>C (p.Ser417Pro) c.1218-5T>C (n.1218-5T>C) c.393T>C c.1303T>C (p.Ser435Pro) c.1207T>C (p.Ser403Pro) c.814T>C (p.Ser272Pro) c.1210T>C (p.Ser404Pro) c.241T>C (p.Ser81Pro) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63415095A>T | CA409646802 | KCNQ2 | c.1279T>A (p.Ser427Thr) c.1333T>A (p.Ser445Thr) c.730T>A (p.Ser244Thr) n.75-5T>A c.1248-5T>A (n.1248-5T>A) c.906-5T>A (n.906-5T>A) c.1249T>A (p.Ser417Thr) c.1218-5T>A (n.1218-5T>A) c.393T>A c.1303T>A (p.Ser435Thr) c.1207T>A (p.Ser403Thr) c.814T>A (p.Ser272Thr) c.1210T>A (p.Ser404Thr) c.241T>A (p.Ser81Thr) | |
| 20 | g.63415096G>A | CA511339599 | KCNQ2 | c.1278C>T (p.Phe426=) c.1332C>T (p.Phe444=) c.729C>T (p.Phe243=) n.75-6C>T c.1248-6C>T (n.1248-6C>T) c.906-6C>T (n.906-6C>T) c.1248C>T (p.Phe416=) c.1218-6C>T (n.1218-6C>T) c.392C>T c.1302C>T (p.Phe434=) c.1206C>T (p.Phe402=) c.813C>T (p.Phe271=) c.1209C>T (p.Phe403=) c.240C>T (p.Phe80=) | |
| 20 | g.63415096G>C | CA409646807 | KCNQ2 | c.1278C>G (p.Phe426Leu) c.1332C>G (p.Phe444Leu) c.729C>G (p.Phe243Leu) n.75-6C>G c.1248-6C>G (n.1248-6C>G) c.906-6C>G (n.906-6C>G) c.1248C>G (p.Phe416Leu) c.1218-6C>G (n.1218-6C>G) c.392C>G c.1302C>G (p.Phe434Leu) c.1206C>G (p.Phe402Leu) c.813C>G (p.Phe271Leu) c.1209C>G (p.Phe403Leu) c.240C>G (p.Phe80Leu) | |
| 20 | g.63415096G>T | CA409646804 | KCNQ2 | c.1278C>A (p.Phe426Leu) c.1332C>A (p.Phe444Leu) c.729C>A (p.Phe243Leu) n.75-6C>A c.1248-6C>A (n.1248-6C>A) c.906-6C>A (n.906-6C>A) c.1248C>A (p.Phe416Leu) c.1218-6C>A (n.1218-6C>A) c.392C>A c.1302C>A (p.Phe434Leu) c.1206C>A (p.Phe402Leu) c.813C>A (p.Phe271Leu) c.1209C>A (p.Phe403Leu) c.240C>A (p.Phe80Leu) | gnomAD v4 |
| 20 | g.63415097A>C | CA409646809 | KCNQ2 | c.1277T>G (p.Phe426Cys) c.1331T>G (p.Phe444Cys) c.728T>G (p.Phe243Cys) n.75-7T>G c.1248-7T>G (n.1248-7T>G) c.906-7T>G (n.906-7T>G) c.1247T>G (p.Phe416Cys) c.1218-7T>G (n.1218-7T>G) c.391T>G c.1301T>G (p.Phe434Cys) c.1205T>G (p.Phe402Cys) c.812T>G (p.Phe271Cys) c.1208T>G (p.Phe403Cys) c.239T>G (p.Phe80Cys) | |
| 20 | g.63415097A>G | CA409646810 | KCNQ2 | c.1277T>C (p.Phe426Ser) c.1331T>C (p.Phe444Ser) c.728T>C (p.Phe243Ser) n.75-7T>C c.1248-7T>C (n.1248-7T>C) c.906-7T>C (n.906-7T>C) c.1247T>C (p.Phe416Ser) c.1218-7T>C (n.1218-7T>C) c.391T>C c.1301T>C (p.Phe434Ser) c.1205T>C (p.Phe402Ser) c.812T>C (p.Phe271Ser) c.1208T>C (p.Phe403Ser) c.239T>C (p.Phe80Ser) | |
| 20 | g.63415097A>T | CA409646813 | KCNQ2 | c.1277T>A (p.Phe426Tyr) c.1331T>A (p.Phe444Tyr) c.728T>A (p.Phe243Tyr) n.75-7T>A c.1248-7T>A (n.1248-7T>A) c.906-7T>A (n.906-7T>A) c.1247T>A (p.Phe416Tyr) c.1218-7T>A (n.1218-7T>A) c.391T>A c.1301T>A (p.Phe434Tyr) c.1205T>A (p.Phe402Tyr) c.812T>A (p.Phe271Tyr) c.1208T>A (p.Phe403Tyr) c.239T>A (p.Phe80Tyr) | |
| 20 | g.63415098A>C | CA409646816 | KCNQ2 | c.1276T>G (p.Phe426Val) c.1330T>G (p.Phe444Val) c.727T>G (p.Phe243Val) n.75-8T>G c.1248-8T>G (n.1248-8T>G) c.906-8T>G (n.906-8T>G) c.1246T>G (p.Phe416Val) c.1218-8T>G (n.1218-8T>G) c.390T>G c.1300T>G (p.Phe434Val) c.1204T>G (p.Phe402Val) c.811T>G (p.Phe271Val) c.1207T>G (p.Phe403Val) c.238T>G (p.Phe80Val) | |
| 20 | g.63415098A>G | CA409646823 | KCNQ2 | c.1276T>C (p.Phe426Leu) c.1330T>C (p.Phe444Leu) c.727T>C (p.Phe243Leu) n.75-8T>C c.1248-8T>C (n.1248-8T>C) c.906-8T>C (n.906-8T>C) c.1246T>C (p.Phe416Leu) c.1218-8T>C (n.1218-8T>C) c.390T>C c.1300T>C (p.Phe434Leu) c.1204T>C (p.Phe402Leu) c.811T>C (p.Phe271Leu) c.1207T>C (p.Phe403Leu) c.238T>C (p.Phe80Leu) | |
| 20 | g.63415098A>T | CA409646826 | KCNQ2 | c.1276T>A (p.Phe426Ile) c.1330T>A (p.Phe444Ile) c.727T>A (p.Phe243Ile) n.75-8T>A c.1248-8T>A (n.1248-8T>A) c.906-8T>A (n.906-8T>A) c.1246T>A (p.Phe416Ile) c.1218-8T>A (n.1218-8T>A) c.390T>A c.1300T>A (p.Phe434Ile) c.1204T>A (p.Phe402Ile) c.811T>A (p.Phe271Ile) c.1207T>A (p.Phe403Ile) c.238T>A (p.Phe80Ile) | |
| 20 | g.63415099G>A | CA511339603 | KCNQ2 | c.1275C>T (p.Val425=) c.1329C>T (p.Val443=) c.726C>T (p.Val242=) n.75-9C>T c.1248-9C>T (n.1248-9C>T) c.906-9C>T (n.906-9C>T) c.1245C>T (p.Val415=) c.1218-9C>T (n.1218-9C>T) c.389C>T c.1299C>T (p.Val433=) c.1203C>T (p.Val401=) c.810C>T (p.Val270=) c.1206C>T (p.Val402=) c.237C>T (p.Val79=) | |
| 20 | g.63415099G>C | CA16608505 | KCNQ2 | c.1275C>G (p.Val425=) c.1329C>G (p.Val443=) c.726C>G (p.Val242=) n.75-9C>G c.1248-9C>G (n.1248-9C>G) c.906-9C>G (n.906-9C>G) c.1245C>G (p.Val415=) c.1218-9C>G (n.1218-9C>G) c.389C>G c.1299C>G (p.Val433=) c.1203C>G (p.Val401=) c.810C>G (p.Val270=) c.1206C>G (p.Val402=) c.237C>G (p.Val79=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63415099G= | CA2374778856 | KCNQ2 | c.1275C= (p.Val425=) c.1329C= (p.Val443=) c.726C= (p.Val242=) n.75-9C= c.1248-9C= (n.1248-9C=) c.906-9C= (n.906-9C=) c.1245C= (p.Val415=) c.1218-9C= (n.1218-9C=) c.389C= c.1299C= (p.Val433=) c.1203C= (p.Val401=) c.810C= (p.Val270=) c.1206C= (p.Val402=) c.237C= (p.Val79=) | |
| 20 | g.63415099G>T | CA511339607 | KCNQ2 | c.1275C>A (p.Val425=) c.1329C>A (p.Val443=) c.726C>A (p.Val242=) n.75-9C>A c.1248-9C>A (n.1248-9C>A) c.906-9C>A (n.906-9C>A) c.1245C>A (p.Val415=) c.1218-9C>A (n.1218-9C>A) c.389C>A c.1299C>A (p.Val433=) c.1203C>A (p.Val401=) c.810C>A (p.Val270=) c.1206C>A (p.Val402=) c.237C>A (p.Val79=) | gnomAD v4 |
| 20 | g.63415100A>C | CA409646828 | KCNQ2 | c.1274T>G (p.Val425Gly) c.1328T>G (p.Val443Gly) c.725T>G (p.Val242Gly) n.75-10T>G c.1248-10T>G (n.1248-10T>G) c.906-10T>G (n.906-10T>G) c.1244T>G (p.Val415Gly) c.1218-10T>G (n.1218-10T>G) c.388T>G c.1298T>G (p.Val433Gly) c.1202T>G (p.Val401Gly) c.809T>G (p.Val270Gly) c.1205T>G (p.Val402Gly) c.236T>G (p.Val79Gly) | |
| 20 | g.63415100A>G | CA409646829 | KCNQ2 | c.1274T>C (p.Val425Ala) c.1328T>C (p.Val443Ala) c.725T>C (p.Val242Ala) n.75-10T>C c.1248-10T>C (n.1248-10T>C) c.906-10T>C (n.906-10T>C) c.1244T>C (p.Val415Ala) c.1218-10T>C (n.1218-10T>C) c.388T>C c.1298T>C (p.Val433Ala) c.1202T>C (p.Val401Ala) c.809T>C (p.Val270Ala) c.1205T>C (p.Val402Ala) c.236T>C (p.Val79Ala) | |
| 20 | g.63415100A>T | CA409646831 | KCNQ2 | c.1274T>A (p.Val425Asp) c.1328T>A (p.Val443Asp) c.725T>A (p.Val242Asp) n.75-10T>A c.1248-10T>A (n.1248-10T>A) c.906-10T>A (n.906-10T>A) c.1244T>A (p.Val415Asp) c.1218-10T>A (n.1218-10T>A) c.388T>A c.1298T>A (p.Val433Asp) c.1202T>A (p.Val401Asp) c.809T>A (p.Val270Asp) c.1205T>A (p.Val402Asp) c.236T>A (p.Val79Asp) | |
| 20 | g.63415101C>A | CA409646834 | KCNQ2 | c.1273G>T (p.Val425Phe) c.1327G>T (p.Val443Phe) c.724G>T (p.Val242Phe) n.75-11G>T c.1248-11G>T (n.1248-11G>T) c.906-11G>T (n.906-11G>T) c.1243G>T (p.Val415Phe) c.1218-11G>T (n.1218-11G>T) c.387G>T c.1297G>T (p.Val433Phe) c.1201G>T (p.Val401Phe) c.808G>T (p.Val270Phe) c.1204G>T (p.Val402Phe) c.235G>T (p.Val79Phe) | |
| 20 | g.63415101C= | CA2374778857 | KCNQ2 | c.1273G= (p.Val425=) c.1327G= (p.Val443=) c.724G= (p.Val242=) n.75-11G= c.1248-11G= (n.1248-11G=) c.906-11G= (n.906-11G=) c.1243G= (p.Val415=) c.1218-11G= (n.1218-11G=) c.387G= c.1297G= (p.Val433=) c.1201G= (p.Val401=) c.808G= (p.Val270=) c.1204G= (p.Val402=) c.235G= (p.Val79=) | |
| 20 | g.63415101C>G | CA409646835 | KCNQ2 | c.1273G>C (p.Val425Leu) c.1327G>C (p.Val443Leu) c.724G>C (p.Val242Leu) n.75-11G>C c.1248-11G>C (n.1248-11G>C) c.906-11G>C (n.906-11G>C) c.1243G>C (p.Val415Leu) c.1218-11G>C (n.1218-11G>C) c.387G>C c.1297G>C (p.Val433Leu) c.1201G>C (p.Val401Leu) c.808G>C (p.Val270Leu) c.1204G>C (p.Val402Leu) c.235G>C (p.Val79Leu) | |
| 20 | g.63415101C>T | CA409646837 | KCNQ2 | c.1273G>A (p.Val425Ile) c.1327G>A (p.Val443Ile) c.724G>A (p.Val242Ile) n.75-11G>A c.1248-11G>A (n.1248-11G>A) c.906-11G>A (n.906-11G>A) c.1243G>A (p.Val415Ile) c.1218-11G>A (n.1218-11G>A) c.387G>A c.1297G>A (p.Val433Ile) c.1201G>A (p.Val401Ile) c.808G>A (p.Val270Ile) c.1204G>A (p.Val402Ile) c.235G>A (p.Val79Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63415102A>C | CA511339608 | KCNQ2 | c.1272T>G (p.Arg424=) c.1326T>G (p.Arg442=) c.723T>G (p.Arg241=) n.75-12T>G c.1248-12T>G (n.1248-12T>G) c.906-12T>G (n.906-12T>G) c.1242T>G (p.Arg414=) c.1218-12T>G (n.1218-12T>G) c.386T>G c.1296T>G (p.Arg432=) c.1200T>G (p.Arg400=) c.807T>G (p.Arg269=) c.1203T>G (p.Arg401=) c.234T>G (p.Arg78=) | |
| 20 | g.63415102A>G | CA511339610 | KCNQ2 | c.1272T>C (p.Arg424=) c.1326T>C (p.Arg442=) c.723T>C (p.Arg241=) n.75-12T>C c.1248-12T>C (n.1248-12T>C) c.906-12T>C (n.906-12T>C) c.1242T>C (p.Arg414=) c.1218-12T>C (n.1218-12T>C) c.386T>C c.1296T>C (p.Arg432=) c.1200T>C (p.Arg400=) c.807T>C (p.Arg269=) c.1203T>C (p.Arg401=) c.234T>C (p.Arg78=) | |
| 20 | g.63415102A>T | CA511339611 | KCNQ2 | c.1272T>A (p.Arg424=) c.1326T>A (p.Arg442=) c.723T>A (p.Arg241=) n.75-12T>A c.1248-12T>A (n.1248-12T>A) c.906-12T>A (n.906-12T>A) c.1242T>A (p.Arg414=) c.1218-12T>A (n.1218-12T>A) c.386T>A c.1296T>A (p.Arg432=) c.1200T>A (p.Arg400=) c.807T>A (p.Arg269=) c.1203T>A (p.Arg401=) c.234T>A (p.Arg78=) | |
| 20 | g.63415103C>A | CA409646844 | KCNQ2 | c.1271G>T (p.Arg424Leu) c.1325G>T (p.Arg442Leu) c.722G>T (p.Arg241Leu) n.75-13G>T c.1248-13G>T (n.1248-13G>T) c.906-13G>T (n.906-13G>T) c.1241G>T (p.Arg414Leu) c.1218-13G>T (n.1218-13G>T) c.385G>T c.1295G>T (p.Arg432Leu) c.1199G>T (p.Arg400Leu) c.806G>T (p.Arg269Leu) c.1202G>T (p.Arg401Leu) c.233G>T (p.Arg78Leu) | |
| 20 | g.63415103C= | CA2374778858 | KCNQ2 | c.1271G= (p.Arg424=) c.1325G= (p.Arg442=) c.722G= (p.Arg241=) n.75-13G= c.1248-13G= (n.1248-13G=) c.906-13G= (n.906-13G=) c.1241G= (p.Arg414=) c.1218-13G= (n.1218-13G=) c.385G= c.1295G= (p.Arg432=) c.1199G= (p.Arg400=) c.806G= (p.Arg269=) c.1202G= (p.Arg401=) c.233G= (p.Arg78=) | |
| 20 | g.63415103C>G | CA409646843 | KCNQ2 | c.1271G>C (p.Arg424Pro) c.1325G>C (p.Arg442Pro) c.722G>C (p.Arg241Pro) n.75-13G>C c.1248-13G>C (n.1248-13G>C) c.906-13G>C (n.906-13G>C) c.1241G>C (p.Arg414Pro) c.1218-13G>C (n.1218-13G>C) c.385G>C c.1295G>C (p.Arg432Pro) c.1199G>C (p.Arg400Pro) c.806G>C (p.Arg269Pro) c.1202G>C (p.Arg401Pro) c.233G>C (p.Arg78Pro) | |
| 20 | g.63415103C>T | CA409646840 | KCNQ2 | c.1271G>A (p.Arg424His) c.1325G>A (p.Arg442His) c.722G>A (p.Arg241His) n.75-13G>A c.1248-13G>A (n.1248-13G>A) c.906-13G>A (n.906-13G>A) c.1241G>A (p.Arg414His) c.1218-13G>A (n.1218-13G>A) c.385G>A c.1295G>A (p.Arg432His) c.1199G>A (p.Arg400His) c.806G>A (p.Arg269His) c.1202G>A (p.Arg401His) c.233G>A (p.Arg78His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63415104G>A | CA409646846 | KCNQ2 | c.1270C>T (p.Arg424Cys) c.1324C>T (p.Arg442Cys) c.721C>T (p.Arg241Cys) n.75-14C>T c.1248-14C>T (n.1248-14C>T) c.906-14C>T (n.906-14C>T) c.1240C>T (p.Arg414Cys) c.1218-14C>T (n.1218-14C>T) c.384C>T c.1294C>T (p.Arg432Cys) c.1198C>T (p.Arg400Cys) c.805C>T (p.Arg269Cys) c.1201C>T (p.Arg401Cys) c.232C>T (p.Arg78Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415104G>C | CA409646852 | KCNQ2 | c.1270C>G (p.Arg424Gly) c.1324C>G (p.Arg442Gly) c.721C>G (p.Arg241Gly) n.75-14C>G c.1248-14C>G (n.1248-14C>G) c.906-14C>G (n.906-14C>G) c.1240C>G (p.Arg414Gly) c.1218-14C>G (n.1218-14C>G) c.384C>G c.1294C>G (p.Arg432Gly) c.1198C>G (p.Arg400Gly) c.805C>G (p.Arg269Gly) c.1201C>G (p.Arg401Gly) c.232C>G (p.Arg78Gly) | |
| 20 | g.63415104G= | CA2374778859 | KCNQ2 | c.1270C= (p.Arg424=) c.1324C= (p.Arg442=) c.721C= (p.Arg241=) n.75-14C= c.1248-14C= (n.1248-14C=) c.906-14C= (n.906-14C=) c.1240C= (p.Arg414=) c.1218-14C= (n.1218-14C=) c.384C= c.1294C= (p.Arg432=) c.1198C= (p.Arg400=) c.805C= (p.Arg269=) c.1201C= (p.Arg401=) c.232C= (p.Arg78=) | |
| 20 | g.63415104G>T | CA409646849 | KCNQ2 | c.1270C>A (p.Arg424Ser) c.1324C>A (p.Arg442Ser) c.721C>A (p.Arg241Ser) n.75-14C>A c.1248-14C>A (n.1248-14C>A) c.906-14C>A (n.906-14C>A) c.1240C>A (p.Arg414Ser) c.1218-14C>A (n.1218-14C>A) c.384C>A c.1294C>A (p.Arg432Ser) c.1198C>A (p.Arg400Ser) c.805C>A (p.Arg269Ser) c.1201C>A (p.Arg401Ser) c.232C>A (p.Arg78Ser) | |
| 20 | g.63415105A>C | CA409646855 | KCNQ2 | c.1269T>G (p.Asp423Glu) c.1323T>G (p.Asp441Glu) c.720T>G (p.Asp240Glu) n.75-15T>G c.1248-15T>G (n.1248-15T>G) c.906-15T>G (n.906-15T>G) c.1239T>G (p.Asp413Glu) c.1218-15T>G (n.1218-15T>G) c.383T>G c.1293T>G (p.Asp431Glu) c.1197T>G (p.Asp399Glu) c.804T>G (p.Asp268Glu) c.1200T>G (p.Asp400Glu) c.231T>G (p.Asp77Glu) | gnomAD v4 |
| 20 | g.63415105A>G | CA511339617 | KCNQ2 | c.1269T>C (p.Asp423=) c.1323T>C (p.Asp441=) c.720T>C (p.Asp240=) n.75-15T>C c.1248-15T>C (n.1248-15T>C) c.906-15T>C (n.906-15T>C) c.1239T>C (p.Asp413=) c.1218-15T>C (n.1218-15T>C) c.383T>C c.1293T>C (p.Asp431=) c.1197T>C (p.Asp399=) c.804T>C (p.Asp268=) c.1200T>C (p.Asp400=) c.231T>C (p.Asp77=) | gnomAD v4 |
| 20 | g.63415105A>T | CA409646857 | KCNQ2 | c.1269T>A (p.Asp423Glu) c.1323T>A (p.Asp441Glu) c.720T>A (p.Asp240Glu) n.75-15T>A c.1248-15T>A (n.1248-15T>A) c.906-15T>A (n.906-15T>A) c.1239T>A (p.Asp413Glu) c.1218-15T>A (n.1218-15T>A) c.383T>A c.1293T>A (p.Asp431Glu) c.1197T>A (p.Asp399Glu) c.804T>A (p.Asp268Glu) c.1200T>A (p.Asp400Glu) c.231T>A (p.Asp77Glu) | |
| 20 | g.63415106T>A | CA409646861 | KCNQ2 | c.1268A>T (p.Asp423Val) c.1322A>T (p.Asp441Val) c.719A>T (p.Asp240Val) n.75-16A>T c.1248-16A>T (n.1248-16A>T) c.906-16A>T (n.906-16A>T) c.1238A>T (p.Asp413Val) c.1218-16A>T (n.1218-16A>T) c.382A>T c.1292A>T (p.Asp431Val) c.1196A>T (p.Asp399Val) c.803A>T (p.Asp268Val) c.1199A>T (p.Asp400Val) c.230A>T (p.Asp77Val) |