Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406844T>A | CA409637166 | KCNQ2 | c.2473A>T (p.Ile825Phe) c.2419A>T (p.Ile807Phe) c.1816A>T (p.Ile606Phe) c.2326A>T (p.Ile776Phe) c.1987A>T (p.Ile663Phe) c.2335A>T (p.Ile779Phe) c.2241+202A>T (n.2241+202A>T) c.2205+202A>T (n.2205+202A>T) c.2365A>T (p.Ile789Phe) c.2133+202A>T (n.2133+202A>T) c.1680-6001A>T (n.1680-6001A>T) c.2461A>T (p.Ile821Phe) c.2527A>T (p.Ile843Phe) c.2524A>T (p.Ile842Phe) c.2497A>T (p.Ile833Phe) c.2443A>T (p.Ile815Phe) c.2416A>T (p.Ile806Phe) c.2401A>T (p.Ile801Phe) c.2008A>T (p.Ile670Phe) c.2470A>T (p.Ile824Phe) c.2407A>T (p.Ile803Phe) c.2404A>T (p.Ile802Phe) c.2362A>T (p.Ile788Phe) c.1435A>T (p.Ile479Phe) | |
20 | g.63406844T>C | CA409637168 | KCNQ2 | c.2473A>G (p.Ile825Val) c.2419A>G (p.Ile807Val) c.1816A>G (p.Ile606Val) c.2326A>G (p.Ile776Val) c.1987A>G (p.Ile663Val) c.2335A>G (p.Ile779Val) c.2241+202A>G (n.2241+202A>G) c.2205+202A>G (n.2205+202A>G) c.2365A>G (p.Ile789Val) c.2133+202A>G (n.2133+202A>G) c.1680-6001A>G (n.1680-6001A>G) c.2461A>G (p.Ile821Val) c.2527A>G (p.Ile843Val) c.2524A>G (p.Ile842Val) c.2497A>G (p.Ile833Val) c.2443A>G (p.Ile815Val) c.2416A>G (p.Ile806Val) c.2401A>G (p.Ile801Val) c.2008A>G (p.Ile670Val) c.2470A>G (p.Ile824Val) c.2407A>G (p.Ile803Val) c.2404A>G (p.Ile802Val) c.2362A>G (p.Ile788Val) c.1435A>G (p.Ile479Val) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406844T>G | CA409637169 | KCNQ2 | c.2473A>C (p.Ile825Leu) c.2419A>C (p.Ile807Leu) c.1816A>C (p.Ile606Leu) c.2326A>C (p.Ile776Leu) c.1987A>C (p.Ile663Leu) c.2335A>C (p.Ile779Leu) c.2241+202A>C (n.2241+202A>C) c.2205+202A>C (n.2205+202A>C) c.2365A>C (p.Ile789Leu) c.2133+202A>C (n.2133+202A>C) c.1680-6001A>C (n.1680-6001A>C) c.2461A>C (p.Ile821Leu) c.2527A>C (p.Ile843Leu) c.2524A>C (p.Ile842Leu) c.2497A>C (p.Ile833Leu) c.2443A>C (p.Ile815Leu) c.2416A>C (p.Ile806Leu) c.2401A>C (p.Ile801Leu) c.2008A>C (p.Ile670Leu) c.2470A>C (p.Ile824Leu) c.2407A>C (p.Ile803Leu) c.2404A>C (p.Ile802Leu) c.2362A>C (p.Ile788Leu) c.1435A>C (p.Ile479Leu) | ClinVar dbSNP |
20 | g.63406844T= | CA2374774269 | KCNQ2 | c.2473A= (p.Ile825=) c.2419A= (p.Ile807=) c.1816A= (p.Ile606=) c.2326A= (p.Ile776=) c.1987A= (p.Ile663=) c.2335A= (p.Ile779=) c.2241+202A= (n.2241+202A=) c.2205+202A= (n.2205+202A=) c.2365A= (p.Ile789=) c.2133+202A= (n.2133+202A=) c.1680-6001A= (n.1680-6001A=) c.2461A= (p.Ile821=) c.2527A= (p.Ile843=) c.2524A= (p.Ile842=) c.2497A= (p.Ile833=) c.2443A= (p.Ile815=) c.2416A= (p.Ile806=) c.2401A= (p.Ile801=) c.2008A= (p.Ile670=) c.2470A= (p.Ile824=) c.2407A= (p.Ile803=) c.2404A= (p.Ile802=) c.2362A= (p.Ile788=) c.1435A= (p.Ile479=) | |
20 | g.63406845del | CA2573157287 | KCNQ2 | c.2472del (p.Ser824ArgfsTer?) c.2418del (p.Ser806ArgfsTer?) c.1815del (p.Ser605ArgfsTer?) c.2325del (p.Ser775ArgfsTer?) c.1986del (p.Ser662ArgfsTer?) c.2334del (p.Ser778ArgfsTer?) c.2241+201del (n.2241+201del) c.2205+201del (n.2205+201del) c.2364del (p.Ser788ArgfsTer?) c.2133+201del (n.2133+201del) c.1680-6002del (n.1680-6002del) c.2460del (p.Ser820ArgfsTer?) c.2526del (p.Ser842ArgfsTer?) c.2523del (p.Ser841ArgfsTer?) c.2496del (p.Ser832ArgfsTer?) c.2442del (p.Ser814ArgfsTer?) c.2415del (p.Ser805ArgfsTer?) c.2400del (p.Ser800ArgfsTer?) c.2007del (p.Ser669ArgfsTer?) c.2469del (p.Ser823ArgfsTer?) c.2406del (p.Ser802ArgfsTer?) c.2403del (p.Ser801ArgfsTer?) c.2361del (p.Ser787ArgfsTer?) c.1434del (p.Ser478ArgfsTer?) | ClinVar dbSNP |
20 | g.63406845G>A | CA511339409 | KCNQ2 | c.2472C>T (p.Ser824=) c.2418C>T (p.Ser806=) c.1815C>T (p.Ser605=) c.2325C>T (p.Ser775=) c.1986C>T (p.Ser662=) c.2334C>T (p.Ser778=) c.2241+201C>T (n.2241+201C>T) c.2205+201C>T (n.2205+201C>T) c.2364C>T (p.Ser788=) c.2133+201C>T (n.2133+201C>T) c.1680-6002C>T (n.1680-6002C>T) c.2460C>T (p.Ser820=) c.2526C>T (p.Ser842=) c.2523C>T (p.Ser841=) c.2496C>T (p.Ser832=) c.2442C>T (p.Ser814=) c.2415C>T (p.Ser805=) c.2400C>T (p.Ser800=) c.2007C>T (p.Ser669=) c.2469C>T (p.Ser823=) c.2406C>T (p.Ser802=) c.2403C>T (p.Ser801=) c.2361C>T (p.Ser787=) c.1434C>T (p.Ser478=) | gnomAD v4 |
20 | g.63406845G>C | CA409637173 | KCNQ2 | c.2472C>G (p.Ser824Arg) c.2418C>G (p.Ser806Arg) c.1815C>G (p.Ser605Arg) c.2325C>G (p.Ser775Arg) c.1986C>G (p.Ser662Arg) c.2334C>G (p.Ser778Arg) c.2241+201C>G (n.2241+201C>G) c.2205+201C>G (n.2205+201C>G) c.2364C>G (p.Ser788Arg) c.2133+201C>G (n.2133+201C>G) c.1680-6002C>G (n.1680-6002C>G) c.2460C>G (p.Ser820Arg) c.2526C>G (p.Ser842Arg) c.2523C>G (p.Ser841Arg) c.2496C>G (p.Ser832Arg) c.2442C>G (p.Ser814Arg) c.2415C>G (p.Ser805Arg) c.2400C>G (p.Ser800Arg) c.2007C>G (p.Ser669Arg) c.2469C>G (p.Ser823Arg) c.2406C>G (p.Ser802Arg) c.2403C>G (p.Ser801Arg) c.2361C>G (p.Ser787Arg) c.1434C>G (p.Ser478Arg) | |
20 | g.63406845G>T | CA409637172 | KCNQ2 | c.2472C>A (p.Ser824Arg) c.2418C>A (p.Ser806Arg) c.1815C>A (p.Ser605Arg) c.2325C>A (p.Ser775Arg) c.1986C>A (p.Ser662Arg) c.2334C>A (p.Ser778Arg) c.2241+201C>A (n.2241+201C>A) c.2205+201C>A (n.2205+201C>A) c.2364C>A (p.Ser788Arg) c.2133+201C>A (n.2133+201C>A) c.1680-6002C>A (n.1680-6002C>A) c.2460C>A (p.Ser820Arg) c.2526C>A (p.Ser842Arg) c.2523C>A (p.Ser841Arg) c.2496C>A (p.Ser832Arg) c.2442C>A (p.Ser814Arg) c.2415C>A (p.Ser805Arg) c.2400C>A (p.Ser800Arg) c.2007C>A (p.Ser669Arg) c.2469C>A (p.Ser823Arg) c.2406C>A (p.Ser802Arg) c.2403C>A (p.Ser801Arg) c.2361C>A (p.Ser787Arg) c.1434C>A (p.Ser478Arg) | |
20 | g.63406846C>A | CA409637174 | KCNQ2 | c.2471G>T (p.Ser824Ile) c.2417G>T (p.Ser806Ile) c.1814G>T (p.Ser605Ile) c.2324G>T (p.Ser775Ile) c.1985G>T (p.Ser662Ile) c.2333G>T (p.Ser778Ile) c.2241+200G>T (n.2241+200G>T) c.2205+200G>T (n.2205+200G>T) c.2363G>T (p.Ser788Ile) c.2133+200G>T (n.2133+200G>T) c.1680-6003G>T (n.1680-6003G>T) c.2459G>T (p.Ser820Ile) c.2525G>T (p.Ser842Ile) c.2522G>T (p.Ser841Ile) c.2495G>T (p.Ser832Ile) c.2441G>T (p.Ser814Ile) c.2414G>T (p.Ser805Ile) c.2399G>T (p.Ser800Ile) c.2006G>T (p.Ser669Ile) c.2468G>T (p.Ser823Ile) c.2405G>T (p.Ser802Ile) c.2402G>T (p.Ser801Ile) c.2360G>T (p.Ser787Ile) c.1433G>T (p.Ser478Ile) | gnomAD v4 |
20 | g.63406846C>G | CA409637177 | KCNQ2 | c.2471G>C (p.Ser824Thr) c.2417G>C (p.Ser806Thr) c.1814G>C (p.Ser605Thr) c.2324G>C (p.Ser775Thr) c.1985G>C (p.Ser662Thr) c.2333G>C (p.Ser778Thr) c.2241+200G>C (n.2241+200G>C) c.2205+200G>C (n.2205+200G>C) c.2363G>C (p.Ser788Thr) c.2133+200G>C (n.2133+200G>C) c.1680-6003G>C (n.1680-6003G>C) c.2459G>C (p.Ser820Thr) c.2525G>C (p.Ser842Thr) c.2522G>C (p.Ser841Thr) c.2495G>C (p.Ser832Thr) c.2441G>C (p.Ser814Thr) c.2414G>C (p.Ser805Thr) c.2399G>C (p.Ser800Thr) c.2006G>C (p.Ser669Thr) c.2468G>C (p.Ser823Thr) c.2405G>C (p.Ser802Thr) c.2402G>C (p.Ser801Thr) c.2360G>C (p.Ser787Thr) c.1433G>C (p.Ser478Thr) | |
20 | g.63406846C>T | CA409637183 | KCNQ2 | c.2471G>A (p.Ser824Asn) c.2417G>A (p.Ser806Asn) c.1814G>A (p.Ser605Asn) c.2324G>A (p.Ser775Asn) c.1985G>A (p.Ser662Asn) c.2333G>A (p.Ser778Asn) c.2241+200G>A (n.2241+200G>A) c.2205+200G>A (n.2205+200G>A) c.2363G>A (p.Ser788Asn) c.2133+200G>A (n.2133+200G>A) c.1680-6003G>A (n.1680-6003G>A) c.2459G>A (p.Ser820Asn) c.2525G>A (p.Ser842Asn) c.2522G>A (p.Ser841Asn) c.2495G>A (p.Ser832Asn) c.2441G>A (p.Ser814Asn) c.2414G>A (p.Ser805Asn) c.2399G>A (p.Ser800Asn) c.2006G>A (p.Ser669Asn) c.2468G>A (p.Ser823Asn) c.2405G>A (p.Ser802Asn) c.2402G>A (p.Ser801Asn) c.2360G>A (p.Ser787Asn) c.1433G>A (p.Ser478Asn) | |
20 | g.63406847T>A | CA409637185 | KCNQ2 | c.2470A>T (p.Ser824Cys) c.2416A>T (p.Ser806Cys) c.1813A>T (p.Ser605Cys) c.2323A>T (p.Ser775Cys) c.1984A>T (p.Ser662Cys) c.2332A>T (p.Ser778Cys) c.2241+199A>T (n.2241+199A>T) c.2205+199A>T (n.2205+199A>T) c.2362A>T (p.Ser788Cys) c.2133+199A>T (n.2133+199A>T) c.1680-6004A>T (n.1680-6004A>T) c.2458A>T (p.Ser820Cys) c.2524A>T (p.Ser842Cys) c.2521A>T (p.Ser841Cys) c.2494A>T (p.Ser832Cys) c.2440A>T (p.Ser814Cys) c.2413A>T (p.Ser805Cys) c.2398A>T (p.Ser800Cys) c.2005A>T (p.Ser669Cys) c.2467A>T (p.Ser823Cys) c.2404A>T (p.Ser802Cys) c.2401A>T (p.Ser801Cys) c.2359A>T (p.Ser787Cys) c.1432A>T (p.Ser478Cys) | |
20 | g.63406847T>C | CA409637186 | KCNQ2 | c.2470A>G (p.Ser824Gly) c.2416A>G (p.Ser806Gly) c.1813A>G (p.Ser605Gly) c.2323A>G (p.Ser775Gly) c.1984A>G (p.Ser662Gly) c.2332A>G (p.Ser778Gly) c.2241+199A>G (n.2241+199A>G) c.2205+199A>G (n.2205+199A>G) c.2362A>G (p.Ser788Gly) c.2133+199A>G (n.2133+199A>G) c.1680-6004A>G (n.1680-6004A>G) c.2458A>G (p.Ser820Gly) c.2524A>G (p.Ser842Gly) c.2521A>G (p.Ser841Gly) c.2494A>G (p.Ser832Gly) c.2440A>G (p.Ser814Gly) c.2413A>G (p.Ser805Gly) c.2398A>G (p.Ser800Gly) c.2005A>G (p.Ser669Gly) c.2467A>G (p.Ser823Gly) c.2404A>G (p.Ser802Gly) c.2401A>G (p.Ser801Gly) c.2359A>G (p.Ser787Gly) c.1432A>G (p.Ser478Gly) | |
20 | g.63406847T>G | CA409637187 | KCNQ2 | c.2470A>C (p.Ser824Arg) c.2416A>C (p.Ser806Arg) c.1813A>C (p.Ser605Arg) c.2323A>C (p.Ser775Arg) c.1984A>C (p.Ser662Arg) c.2332A>C (p.Ser778Arg) c.2241+199A>C (n.2241+199A>C) c.2205+199A>C (n.2205+199A>C) c.2362A>C (p.Ser788Arg) c.2133+199A>C (n.2133+199A>C) c.1680-6004A>C (n.1680-6004A>C) c.2458A>C (p.Ser820Arg) c.2524A>C (p.Ser842Arg) c.2521A>C (p.Ser841Arg) c.2494A>C (p.Ser832Arg) c.2440A>C (p.Ser814Arg) c.2413A>C (p.Ser805Arg) c.2398A>C (p.Ser800Arg) c.2005A>C (p.Ser669Arg) c.2467A>C (p.Ser823Arg) c.2404A>C (p.Ser802Arg) c.2401A>C (p.Ser801Arg) c.2359A>C (p.Ser787Arg) c.1432A>C (p.Ser478Arg) | |
20 | g.63406848G>A | CA511339411 | KCNQ2 | c.2469C>T (p.Phe823=) c.2415C>T (p.Phe805=) c.1812C>T (p.Phe604=) c.2322C>T (p.Phe774=) c.1983C>T (p.Phe661=) c.2331C>T (p.Phe777=) c.2241+198C>T (n.2241+198C>T) c.2205+198C>T (n.2205+198C>T) c.2361C>T (p.Phe787=) c.2133+198C>T (n.2133+198C>T) c.1680-6005C>T (n.1680-6005C>T) c.2457C>T (p.Phe819=) c.2523C>T (p.Phe841=) c.2520C>T (p.Phe840=) c.2493C>T (p.Phe831=) c.2439C>T (p.Phe813=) c.2412C>T (p.Phe804=) c.2397C>T (p.Phe799=) c.2004C>T (p.Phe668=) c.2466C>T (p.Phe822=) c.2403C>T (p.Phe801=) c.2400C>T (p.Phe800=) c.2358C>T (p.Phe786=) c.1431C>T (p.Phe477=) | dbSNP gnomAD v4 |
20 | g.63406848G>C | CA409637189 | KCNQ2 | c.2469C>G (p.Phe823Leu) c.2415C>G (p.Phe805Leu) c.1812C>G (p.Phe604Leu) c.2322C>G (p.Phe774Leu) c.1983C>G (p.Phe661Leu) c.2331C>G (p.Phe777Leu) c.2241+198C>G (n.2241+198C>G) c.2205+198C>G (n.2205+198C>G) c.2361C>G (p.Phe787Leu) c.2133+198C>G (n.2133+198C>G) c.1680-6005C>G (n.1680-6005C>G) c.2457C>G (p.Phe819Leu) c.2523C>G (p.Phe841Leu) c.2520C>G (p.Phe840Leu) c.2493C>G (p.Phe831Leu) c.2439C>G (p.Phe813Leu) c.2412C>G (p.Phe804Leu) c.2397C>G (p.Phe799Leu) c.2004C>G (p.Phe668Leu) c.2466C>G (p.Phe822Leu) c.2403C>G (p.Phe801Leu) c.2400C>G (p.Phe800Leu) c.2358C>G (p.Phe786Leu) c.1431C>G (p.Phe477Leu) | |
20 | g.63406848G= | CA2374774270 | KCNQ2 | c.2469C= (p.Phe823=) c.2415C= (p.Phe805=) c.1812C= (p.Phe604=) c.2322C= (p.Phe774=) c.1983C= (p.Phe661=) c.2331C= (p.Phe777=) c.2241+198C= (n.2241+198C=) c.2205+198C= (n.2205+198C=) c.2361C= (p.Phe787=) c.2133+198C= (n.2133+198C=) c.1680-6005C= (n.1680-6005C=) c.2457C= (p.Phe819=) c.2523C= (p.Phe841=) c.2520C= (p.Phe840=) c.2493C= (p.Phe831=) c.2439C= (p.Phe813=) c.2412C= (p.Phe804=) c.2397C= (p.Phe799=) c.2004C= (p.Phe668=) c.2466C= (p.Phe822=) c.2403C= (p.Phe801=) c.2400C= (p.Phe800=) c.2358C= (p.Phe786=) c.1431C= (p.Phe477=) | |
20 | g.63406848G>T | CA409637188 | KCNQ2 | c.2469C>A (p.Phe823Leu) c.2415C>A (p.Phe805Leu) c.1812C>A (p.Phe604Leu) c.2322C>A (p.Phe774Leu) c.1983C>A (p.Phe661Leu) c.2331C>A (p.Phe777Leu) c.2241+198C>A (n.2241+198C>A) c.2205+198C>A (n.2205+198C>A) c.2361C>A (p.Phe787Leu) c.2133+198C>A (n.2133+198C>A) c.1680-6005C>A (n.1680-6005C>A) c.2457C>A (p.Phe819Leu) c.2523C>A (p.Phe841Leu) c.2520C>A (p.Phe840Leu) c.2493C>A (p.Phe831Leu) c.2439C>A (p.Phe813Leu) c.2412C>A (p.Phe804Leu) c.2397C>A (p.Phe799Leu) c.2004C>A (p.Phe668Leu) c.2466C>A (p.Phe822Leu) c.2403C>A (p.Phe801Leu) c.2400C>A (p.Phe800Leu) c.2358C>A (p.Phe786Leu) c.1431C>A (p.Phe477Leu) | |
20 | g.63406849A>C | CA409637190 | KCNQ2 | c.2468T>G (p.Phe823Cys) c.2414T>G (p.Phe805Cys) c.1811T>G (p.Phe604Cys) c.2321T>G (p.Phe774Cys) c.1982T>G (p.Phe661Cys) c.2330T>G (p.Phe777Cys) c.2241+197T>G (n.2241+197T>G) c.2205+197T>G (n.2205+197T>G) c.2360T>G (p.Phe787Cys) c.2133+197T>G (n.2133+197T>G) c.1680-6006T>G (n.1680-6006T>G) c.2456T>G (p.Phe819Cys) c.2522T>G (p.Phe841Cys) c.2519T>G (p.Phe840Cys) c.2492T>G (p.Phe831Cys) c.2438T>G (p.Phe813Cys) c.2411T>G (p.Phe804Cys) c.2396T>G (p.Phe799Cys) c.2003T>G (p.Phe668Cys) c.2465T>G (p.Phe822Cys) c.2402T>G (p.Phe801Cys) c.2399T>G (p.Phe800Cys) c.2357T>G (p.Phe786Cys) c.1430T>G (p.Phe477Cys) | |
20 | g.63406849A>G | CA409637191 | KCNQ2 | c.2468T>C (p.Phe823Ser) c.2414T>C (p.Phe805Ser) c.1811T>C (p.Phe604Ser) c.2321T>C (p.Phe774Ser) c.1982T>C (p.Phe661Ser) c.2330T>C (p.Phe777Ser) c.2241+197T>C (n.2241+197T>C) c.2205+197T>C (n.2205+197T>C) c.2360T>C (p.Phe787Ser) c.2133+197T>C (n.2133+197T>C) c.1680-6006T>C (n.1680-6006T>C) c.2456T>C (p.Phe819Ser) c.2522T>C (p.Phe841Ser) c.2519T>C (p.Phe840Ser) c.2492T>C (p.Phe831Ser) c.2438T>C (p.Phe813Ser) c.2411T>C (p.Phe804Ser) c.2396T>C (p.Phe799Ser) c.2003T>C (p.Phe668Ser) c.2465T>C (p.Phe822Ser) c.2402T>C (p.Phe801Ser) c.2399T>C (p.Phe800Ser) c.2357T>C (p.Phe786Ser) c.1430T>C (p.Phe477Ser) | |
20 | g.63406849A>T | CA409637193 | KCNQ2 | c.2468T>A (p.Phe823Tyr) c.2414T>A (p.Phe805Tyr) c.1811T>A (p.Phe604Tyr) c.2321T>A (p.Phe774Tyr) c.1982T>A (p.Phe661Tyr) c.2330T>A (p.Phe777Tyr) c.2241+197T>A (n.2241+197T>A) c.2205+197T>A (n.2205+197T>A) c.2360T>A (p.Phe787Tyr) c.2133+197T>A (n.2133+197T>A) c.1680-6006T>A (n.1680-6006T>A) c.2456T>A (p.Phe819Tyr) c.2522T>A (p.Phe841Tyr) c.2519T>A (p.Phe840Tyr) c.2492T>A (p.Phe831Tyr) c.2438T>A (p.Phe813Tyr) c.2411T>A (p.Phe804Tyr) c.2396T>A (p.Phe799Tyr) c.2003T>A (p.Phe668Tyr) c.2465T>A (p.Phe822Tyr) c.2402T>A (p.Phe801Tyr) c.2399T>A (p.Phe800Tyr) c.2357T>A (p.Phe786Tyr) c.1430T>A (p.Phe477Tyr) | |
20 | g.63406850A>C | CA409637199 | KCNQ2 | c.2467T>G (p.Phe823Val) c.2413T>G (p.Phe805Val) c.1810T>G (p.Phe604Val) c.2320T>G (p.Phe774Val) c.1981T>G (p.Phe661Val) c.2329T>G (p.Phe777Val) c.2241+196T>G (n.2241+196T>G) c.2205+196T>G (n.2205+196T>G) c.2359T>G (p.Phe787Val) c.2133+196T>G (n.2133+196T>G) c.1680-6007T>G (n.1680-6007T>G) c.2455T>G (p.Phe819Val) c.2521T>G (p.Phe841Val) c.2518T>G (p.Phe840Val) c.2491T>G (p.Phe831Val) c.2437T>G (p.Phe813Val) c.2410T>G (p.Phe804Val) c.2395T>G (p.Phe799Val) c.2002T>G (p.Phe668Val) c.2464T>G (p.Phe822Val) c.2401T>G (p.Phe801Val) c.2398T>G (p.Phe800Val) c.2356T>G (p.Phe786Val) c.1429T>G (p.Phe477Val) | gnomAD v4 |
20 | g.63406850A>G | CA409637200 | KCNQ2 | c.2467T>C (p.Phe823Leu) c.2413T>C (p.Phe805Leu) c.1810T>C (p.Phe604Leu) c.2320T>C (p.Phe774Leu) c.1981T>C (p.Phe661Leu) c.2329T>C (p.Phe777Leu) c.2241+196T>C (n.2241+196T>C) c.2205+196T>C (n.2205+196T>C) c.2359T>C (p.Phe787Leu) c.2133+196T>C (n.2133+196T>C) c.1680-6007T>C (n.1680-6007T>C) c.2455T>C (p.Phe819Leu) c.2521T>C (p.Phe841Leu) c.2518T>C (p.Phe840Leu) c.2491T>C (p.Phe831Leu) c.2437T>C (p.Phe813Leu) c.2410T>C (p.Phe804Leu) c.2395T>C (p.Phe799Leu) c.2002T>C (p.Phe668Leu) c.2464T>C (p.Phe822Leu) c.2401T>C (p.Phe801Leu) c.2398T>C (p.Phe800Leu) c.2356T>C (p.Phe786Leu) c.1429T>C (p.Phe477Leu) | |
20 | g.63406850A>T | CA409637203 | KCNQ2 | c.2467T>A (p.Phe823Ile) c.2413T>A (p.Phe805Ile) c.1810T>A (p.Phe604Ile) c.2320T>A (p.Phe774Ile) c.1981T>A (p.Phe661Ile) c.2329T>A (p.Phe777Ile) c.2241+196T>A (n.2241+196T>A) c.2205+196T>A (n.2205+196T>A) c.2359T>A (p.Phe787Ile) c.2133+196T>A (n.2133+196T>A) c.1680-6007T>A (n.1680-6007T>A) c.2455T>A (p.Phe819Ile) c.2521T>A (p.Phe841Ile) c.2518T>A (p.Phe840Ile) c.2491T>A (p.Phe831Ile) c.2437T>A (p.Phe813Ile) c.2410T>A (p.Phe804Ile) c.2395T>A (p.Phe799Ile) c.2002T>A (p.Phe668Ile) c.2464T>A (p.Phe822Ile) c.2401T>A (p.Phe801Ile) c.2398T>A (p.Phe800Ile) c.2356T>A (p.Phe786Ile) c.1429T>A (p.Phe477Ile) | |
20 | g.63406851G>A | CA317421760 | KCNQ2 | c.2466C>T (p.Gly822=) c.2412C>T (p.Gly804=) c.1809C>T (p.Gly603=) c.2319C>T (p.Gly773=) c.1980C>T (p.Gly660=) c.2328C>T (p.Gly776=) c.2241+195C>T (n.2241+195C>T) c.2205+195C>T (n.2205+195C>T) c.2358C>T (p.Gly786=) c.2133+195C>T (n.2133+195C>T) c.1680-6008C>T (n.1680-6008C>T) c.2454C>T (p.Gly818=) c.2520C>T (p.Gly840=) c.2517C>T (p.Gly839=) c.2490C>T (p.Gly830=) c.2436C>T (p.Gly812=) c.2409C>T (p.Gly803=) c.2394C>T (p.Gly798=) c.2001C>T (p.Gly667=) c.2463C>T (p.Gly821=) c.2400C>T (p.Gly800=) c.2397C>T (p.Gly799=) c.2355C>T (p.Gly785=) c.1428C>T (p.Gly476=) | dbSNP |
20 | g.63406851G>C | CA511339415 | KCNQ2 | c.2466C>G (p.Gly822=) c.2412C>G (p.Gly804=) c.1809C>G (p.Gly603=) c.2319C>G (p.Gly773=) c.1980C>G (p.Gly660=) c.2328C>G (p.Gly776=) c.2241+195C>G (n.2241+195C>G) c.2205+195C>G (n.2205+195C>G) c.2358C>G (p.Gly786=) c.2133+195C>G (n.2133+195C>G) c.1680-6008C>G (n.1680-6008C>G) c.2454C>G (p.Gly818=) c.2520C>G (p.Gly840=) c.2517C>G (p.Gly839=) c.2490C>G (p.Gly830=) c.2436C>G (p.Gly812=) c.2409C>G (p.Gly803=) c.2394C>G (p.Gly798=) c.2001C>G (p.Gly667=) c.2463C>G (p.Gly821=) c.2400C>G (p.Gly800=) c.2397C>G (p.Gly799=) c.2355C>G (p.Gly785=) c.1428C>G (p.Gly476=) | |
20 | g.63406851G= | CA2374774271 | KCNQ2 | c.2466C= (p.Gly822=) c.2412C= (p.Gly804=) c.1809C= (p.Gly603=) c.2319C= (p.Gly773=) c.1980C= (p.Gly660=) c.2328C= (p.Gly776=) c.2241+195C= (n.2241+195C=) c.2205+195C= (n.2205+195C=) c.2358C= (p.Gly786=) c.2133+195C= (n.2133+195C=) c.1680-6008C= (n.1680-6008C=) c.2454C= (p.Gly818=) c.2520C= (p.Gly840=) c.2517C= (p.Gly839=) c.2490C= (p.Gly830=) c.2436C= (p.Gly812=) c.2409C= (p.Gly803=) c.2394C= (p.Gly798=) c.2001C= (p.Gly667=) c.2463C= (p.Gly821=) c.2400C= (p.Gly800=) c.2397C= (p.Gly799=) c.2355C= (p.Gly785=) c.1428C= (p.Gly476=) | |
20 | g.63406851G>T | CA511339414 | KCNQ2 | c.2466C>A (p.Gly822=) c.2412C>A (p.Gly804=) c.1809C>A (p.Gly603=) c.2319C>A (p.Gly773=) c.1980C>A (p.Gly660=) c.2328C>A (p.Gly776=) c.2241+195C>A (n.2241+195C>A) c.2205+195C>A (n.2205+195C>A) c.2358C>A (p.Gly786=) c.2133+195C>A (n.2133+195C>A) c.1680-6008C>A (n.1680-6008C>A) c.2454C>A (p.Gly818=) c.2520C>A (p.Gly840=) c.2517C>A (p.Gly839=) c.2490C>A (p.Gly830=) c.2436C>A (p.Gly812=) c.2409C>A (p.Gly803=) c.2394C>A (p.Gly798=) c.2001C>A (p.Gly667=) c.2463C>A (p.Gly821=) c.2400C>A (p.Gly800=) c.2397C>A (p.Gly799=) c.2355C>A (p.Gly785=) c.1428C>A (p.Gly476=) | gnomAD v4 |
20 | g.63406852C>A | CA409637205 | KCNQ2 | c.2465G>T (p.Gly822Val) c.2411G>T (p.Gly804Val) c.1808G>T (p.Gly603Val) c.2318G>T (p.Gly773Val) c.1979G>T (p.Gly660Val) c.2327G>T (p.Gly776Val) c.2241+194G>T (n.2241+194G>T) c.2205+194G>T (n.2205+194G>T) c.2357G>T (p.Gly786Val) c.2133+194G>T (n.2133+194G>T) c.1680-6009G>T (n.1680-6009G>T) c.2453G>T (p.Gly818Val) c.2519G>T (p.Gly840Val) c.2516G>T (p.Gly839Val) c.2489G>T (p.Gly830Val) c.2435G>T (p.Gly812Val) c.2408G>T (p.Gly803Val) c.2393G>T (p.Gly798Val) c.2000G>T (p.Gly667Val) c.2462G>T (p.Gly821Val) c.2399G>T (p.Gly800Val) c.2396G>T (p.Gly799Val) c.2354G>T (p.Gly785Val) c.1427G>T (p.Gly476Val) | |
20 | g.63406852C>G | CA409637209 | KCNQ2 | c.2465G>C (p.Gly822Ala) c.2411G>C (p.Gly804Ala) c.1808G>C (p.Gly603Ala) c.2318G>C (p.Gly773Ala) c.1979G>C (p.Gly660Ala) c.2327G>C (p.Gly776Ala) c.2241+194G>C (n.2241+194G>C) c.2205+194G>C (n.2205+194G>C) c.2357G>C (p.Gly786Ala) c.2133+194G>C (n.2133+194G>C) c.1680-6009G>C (n.1680-6009G>C) c.2453G>C (p.Gly818Ala) c.2519G>C (p.Gly840Ala) c.2516G>C (p.Gly839Ala) c.2489G>C (p.Gly830Ala) c.2435G>C (p.Gly812Ala) c.2408G>C (p.Gly803Ala) c.2393G>C (p.Gly798Ala) c.2000G>C (p.Gly667Ala) c.2462G>C (p.Gly821Ala) c.2399G>C (p.Gly800Ala) c.2396G>C (p.Gly799Ala) c.2354G>C (p.Gly785Ala) c.1427G>C (p.Gly476Ala) | |
20 | g.63406852C>T | CA409637207 | KCNQ2 | c.2465G>A (p.Gly822Asp) c.2411G>A (p.Gly804Asp) c.1808G>A (p.Gly603Asp) c.2318G>A (p.Gly773Asp) c.1979G>A (p.Gly660Asp) c.2327G>A (p.Gly776Asp) c.2241+194G>A (n.2241+194G>A) c.2205+194G>A (n.2205+194G>A) c.2357G>A (p.Gly786Asp) c.2133+194G>A (n.2133+194G>A) c.1680-6009G>A (n.1680-6009G>A) c.2453G>A (p.Gly818Asp) c.2519G>A (p.Gly840Asp) c.2516G>A (p.Gly839Asp) c.2489G>A (p.Gly830Asp) c.2435G>A (p.Gly812Asp) c.2408G>A (p.Gly803Asp) c.2393G>A (p.Gly798Asp) c.2000G>A (p.Gly667Asp) c.2462G>A (p.Gly821Asp) c.2399G>A (p.Gly800Asp) c.2396G>A (p.Gly799Asp) c.2354G>A (p.Gly785Asp) c.1427G>A (p.Gly476Asp) | |
20 | g.63406853C>A | CA409637212 | KCNQ2 | c.2464G>T (p.Gly822Cys) c.2410G>T (p.Gly804Cys) c.1807G>T (p.Gly603Cys) c.2317G>T (p.Gly773Cys) c.1978G>T (p.Gly660Cys) c.2326G>T (p.Gly776Cys) c.2241+193G>T (n.2241+193G>T) c.2205+193G>T (n.2205+193G>T) c.2356G>T (p.Gly786Cys) c.2133+193G>T (n.2133+193G>T) c.1680-6010G>T (n.1680-6010G>T) c.2452G>T (p.Gly818Cys) c.2518G>T (p.Gly840Cys) c.2515G>T (p.Gly839Cys) c.2488G>T (p.Gly830Cys) c.2434G>T (p.Gly812Cys) c.2407G>T (p.Gly803Cys) c.2392G>T (p.Gly798Cys) c.1999G>T (p.Gly667Cys) c.2461G>T (p.Gly821Cys) c.2398G>T (p.Gly800Cys) c.2395G>T (p.Gly799Cys) c.2353G>T (p.Gly785Cys) c.1426G>T (p.Gly476Cys) | |
20 | g.63406853C= | CA2374774272 | KCNQ2 | c.2464G= (p.Gly822=) c.2410G= (p.Gly804=) c.1807G= (p.Gly603=) c.2317G= (p.Gly773=) c.1978G= (p.Gly660=) c.2326G= (p.Gly776=) c.2241+193G= (n.2241+193G=) c.2205+193G= (n.2205+193G=) c.2356G= (p.Gly786=) c.2133+193G= (n.2133+193G=) c.1680-6010G= (n.1680-6010G=) c.2452G= (p.Gly818=) c.2518G= (p.Gly840=) c.2515G= (p.Gly839=) c.2488G= (p.Gly830=) c.2434G= (p.Gly812=) c.2407G= (p.Gly803=) c.2392G= (p.Gly798=) c.1999G= (p.Gly667=) c.2461G= (p.Gly821=) c.2398G= (p.Gly800=) c.2395G= (p.Gly799=) c.2353G= (p.Gly785=) c.1426G= (p.Gly476=) | |
20 | g.63406853C>G | CA409637214 | KCNQ2 | c.2464G>C (p.Gly822Arg) c.2410G>C (p.Gly804Arg) c.1807G>C (p.Gly603Arg) c.2317G>C (p.Gly773Arg) c.1978G>C (p.Gly660Arg) c.2326G>C (p.Gly776Arg) c.2241+193G>C (n.2241+193G>C) c.2205+193G>C (n.2205+193G>C) c.2356G>C (p.Gly786Arg) c.2133+193G>C (n.2133+193G>C) c.1680-6010G>C (n.1680-6010G>C) c.2452G>C (p.Gly818Arg) c.2518G>C (p.Gly840Arg) c.2515G>C (p.Gly839Arg) c.2488G>C (p.Gly830Arg) c.2434G>C (p.Gly812Arg) c.2407G>C (p.Gly803Arg) c.2392G>C (p.Gly798Arg) c.1999G>C (p.Gly667Arg) c.2461G>C (p.Gly821Arg) c.2398G>C (p.Gly800Arg) c.2395G>C (p.Gly799Arg) c.2353G>C (p.Gly785Arg) c.1426G>C (p.Gly476Arg) | |
20 | g.63406853C>T | CA409637216 | KCNQ2 | c.2464G>A (p.Gly822Ser) c.2410G>A (p.Gly804Ser) c.1807G>A (p.Gly603Ser) c.2317G>A (p.Gly773Ser) c.1978G>A (p.Gly660Ser) c.2326G>A (p.Gly776Ser) c.2241+193G>A (n.2241+193G>A) c.2205+193G>A (n.2205+193G>A) c.2356G>A (p.Gly786Ser) c.2133+193G>A (n.2133+193G>A) c.1680-6010G>A (n.1680-6010G>A) c.2452G>A (p.Gly818Ser) c.2518G>A (p.Gly840Ser) c.2515G>A (p.Gly839Ser) c.2488G>A (p.Gly830Ser) c.2434G>A (p.Gly812Ser) c.2407G>A (p.Gly803Ser) c.2392G>A (p.Gly798Ser) c.1999G>A (p.Gly667Ser) c.2461G>A (p.Gly821Ser) c.2398G>A (p.Gly800Ser) c.2395G>A (p.Gly799Ser) c.2353G>A (p.Gly785Ser) c.1426G>A (p.Gly476Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.63406854G>A | CA9958079 | KCNQ2 | c.2463C>T (p.Ser821=) c.2409C>T (p.Ser803=) c.1806C>T (p.Ser602=) c.2316C>T (p.Ser772=) c.1977C>T (p.Ser659=) c.2325C>T (p.Ser775=) c.2241+192C>T (n.2241+192C>T) c.2205+192C>T (n.2205+192C>T) c.2355C>T (p.Ser785=) c.2133+192C>T (n.2133+192C>T) c.1680-6011C>T (n.1680-6011C>T) c.2451C>T (p.Ser817=) c.2517C>T (p.Ser839=) c.2514C>T (p.Ser838=) c.2487C>T (p.Ser829=) c.2433C>T (p.Ser811=) c.2406C>T (p.Ser802=) c.2391C>T (p.Ser797=) c.1998C>T (p.Ser666=) c.2460C>T (p.Ser820=) c.2397C>T (p.Ser799=) c.2394C>T (p.Ser798=) c.2352C>T (p.Ser784=) c.1425C>T (p.Ser475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406854G>C | CA409637218 | KCNQ2 | c.2463C>G (p.Ser821Arg) c.2409C>G (p.Ser803Arg) c.1806C>G (p.Ser602Arg) c.2316C>G (p.Ser772Arg) c.1977C>G (p.Ser659Arg) c.2325C>G (p.Ser775Arg) c.2241+192C>G (n.2241+192C>G) c.2205+192C>G (n.2205+192C>G) c.2355C>G (p.Ser785Arg) c.2133+192C>G (n.2133+192C>G) c.1680-6011C>G (n.1680-6011C>G) c.2451C>G (p.Ser817Arg) c.2517C>G (p.Ser839Arg) c.2514C>G (p.Ser838Arg) c.2487C>G (p.Ser829Arg) c.2433C>G (p.Ser811Arg) c.2406C>G (p.Ser802Arg) c.2391C>G (p.Ser797Arg) c.1998C>G (p.Ser666Arg) c.2460C>G (p.Ser820Arg) c.2397C>G (p.Ser799Arg) c.2394C>G (p.Ser798Arg) c.2352C>G (p.Ser784Arg) c.1425C>G (p.Ser475Arg) | |
20 | g.63406854G= | CA2374774273 | KCNQ2 | c.2463C= (p.Ser821=) c.2409C= (p.Ser803=) c.1806C= (p.Ser602=) c.2316C= (p.Ser772=) c.1977C= (p.Ser659=) c.2325C= (p.Ser775=) c.2241+192C= (n.2241+192C=) c.2205+192C= (n.2205+192C=) c.2355C= (p.Ser785=) c.2133+192C= (n.2133+192C=) c.1680-6011C= (n.1680-6011C=) c.2451C= (p.Ser817=) c.2517C= (p.Ser839=) c.2514C= (p.Ser838=) c.2487C= (p.Ser829=) c.2433C= (p.Ser811=) c.2406C= (p.Ser802=) c.2391C= (p.Ser797=) c.1998C= (p.Ser666=) c.2460C= (p.Ser820=) c.2397C= (p.Ser799=) c.2394C= (p.Ser798=) c.2352C= (p.Ser784=) c.1425C= (p.Ser475=) | |
20 | g.63406854G>T | CA409637220 | KCNQ2 | c.2463C>A (p.Ser821Arg) c.2409C>A (p.Ser803Arg) c.1806C>A (p.Ser602Arg) c.2316C>A (p.Ser772Arg) c.1977C>A (p.Ser659Arg) c.2325C>A (p.Ser775Arg) c.2241+192C>A (n.2241+192C>A) c.2205+192C>A (n.2205+192C>A) c.2355C>A (p.Ser785Arg) c.2133+192C>A (n.2133+192C>A) c.1680-6011C>A (n.1680-6011C>A) c.2451C>A (p.Ser817Arg) c.2517C>A (p.Ser839Arg) c.2514C>A (p.Ser838Arg) c.2487C>A (p.Ser829Arg) c.2433C>A (p.Ser811Arg) c.2406C>A (p.Ser802Arg) c.2391C>A (p.Ser797Arg) c.1998C>A (p.Ser666Arg) c.2460C>A (p.Ser820Arg) c.2397C>A (p.Ser799Arg) c.2394C>A (p.Ser798Arg) c.2352C>A (p.Ser784Arg) c.1425C>A (p.Ser475Arg) | COSMIC COSMIC |
20 | g.63406855C>A | CA409637223 | KCNQ2 | c.2462G>T (p.Ser821Ile) c.2408G>T (p.Ser803Ile) c.1805G>T (p.Ser602Ile) c.2315G>T (p.Ser772Ile) c.1976G>T (p.Ser659Ile) c.2324G>T (p.Ser775Ile) c.2241+191G>T (n.2241+191G>T) c.2205+191G>T (n.2205+191G>T) c.2354G>T (p.Ser785Ile) c.2133+191G>T (n.2133+191G>T) c.1680-6012G>T (n.1680-6012G>T) c.2450G>T (p.Ser817Ile) c.2516G>T (p.Ser839Ile) c.2513G>T (p.Ser838Ile) c.2486G>T (p.Ser829Ile) c.2432G>T (p.Ser811Ile) c.2405G>T (p.Ser802Ile) c.2390G>T (p.Ser797Ile) c.1997G>T (p.Ser666Ile) c.2459G>T (p.Ser820Ile) c.2396G>T (p.Ser799Ile) c.2393G>T (p.Ser798Ile) c.2351G>T (p.Ser784Ile) c.1424G>T (p.Ser475Ile) | |
20 | g.63406855C>G | CA409637224 | KCNQ2 | c.2462G>C (p.Ser821Thr) c.2408G>C (p.Ser803Thr) c.1805G>C (p.Ser602Thr) c.2315G>C (p.Ser772Thr) c.1976G>C (p.Ser659Thr) c.2324G>C (p.Ser775Thr) c.2241+191G>C (n.2241+191G>C) c.2205+191G>C (n.2205+191G>C) c.2354G>C (p.Ser785Thr) c.2133+191G>C (n.2133+191G>C) c.1680-6012G>C (n.1680-6012G>C) c.2450G>C (p.Ser817Thr) c.2516G>C (p.Ser839Thr) c.2513G>C (p.Ser838Thr) c.2486G>C (p.Ser829Thr) c.2432G>C (p.Ser811Thr) c.2405G>C (p.Ser802Thr) c.2390G>C (p.Ser797Thr) c.1997G>C (p.Ser666Thr) c.2459G>C (p.Ser820Thr) c.2396G>C (p.Ser799Thr) c.2393G>C (p.Ser798Thr) c.2351G>C (p.Ser784Thr) c.1424G>C (p.Ser475Thr) | |
20 | g.63406855C>T | CA409637226 | KCNQ2 | c.2462G>A (p.Ser821Asn) c.2408G>A (p.Ser803Asn) c.1805G>A (p.Ser602Asn) c.2315G>A (p.Ser772Asn) c.1976G>A (p.Ser659Asn) c.2324G>A (p.Ser775Asn) c.2241+191G>A (n.2241+191G>A) c.2205+191G>A (n.2205+191G>A) c.2354G>A (p.Ser785Asn) c.2133+191G>A (n.2133+191G>A) c.1680-6012G>A (n.1680-6012G>A) c.2450G>A (p.Ser817Asn) c.2516G>A (p.Ser839Asn) c.2513G>A (p.Ser838Asn) c.2486G>A (p.Ser829Asn) c.2432G>A (p.Ser811Asn) c.2405G>A (p.Ser802Asn) c.2390G>A (p.Ser797Asn) c.1997G>A (p.Ser666Asn) c.2459G>A (p.Ser820Asn) c.2396G>A (p.Ser799Asn) c.2393G>A (p.Ser798Asn) c.2351G>A (p.Ser784Asn) c.1424G>A (p.Ser475Asn) | dbSNP |
20 | g.63406856T>A | CA409637229 | KCNQ2 | c.2461A>T (p.Ser821Cys) c.2407A>T (p.Ser803Cys) c.1804A>T (p.Ser602Cys) c.2314A>T (p.Ser772Cys) c.1975A>T (p.Ser659Cys) c.2323A>T (p.Ser775Cys) c.2241+190A>T (n.2241+190A>T) c.2205+190A>T (n.2205+190A>T) c.2353A>T (p.Ser785Cys) c.2133+190A>T (n.2133+190A>T) c.1680-6013A>T (n.1680-6013A>T) c.2449A>T (p.Ser817Cys) c.2515A>T (p.Ser839Cys) c.2512A>T (p.Ser838Cys) c.2485A>T (p.Ser829Cys) c.2431A>T (p.Ser811Cys) c.2404A>T (p.Ser802Cys) c.2389A>T (p.Ser797Cys) c.1996A>T (p.Ser666Cys) c.2458A>T (p.Ser820Cys) c.2395A>T (p.Ser799Cys) c.2392A>T (p.Ser798Cys) c.2350A>T (p.Ser784Cys) c.1423A>T (p.Ser475Cys) | |
20 | g.63406856T>C | CA409637230 | KCNQ2 | c.2461A>G (p.Ser821Gly) c.2407A>G (p.Ser803Gly) c.1804A>G (p.Ser602Gly) c.2314A>G (p.Ser772Gly) c.1975A>G (p.Ser659Gly) c.2323A>G (p.Ser775Gly) c.2241+190A>G (n.2241+190A>G) c.2205+190A>G (n.2205+190A>G) c.2353A>G (p.Ser785Gly) c.2133+190A>G (n.2133+190A>G) c.1680-6013A>G (n.1680-6013A>G) c.2449A>G (p.Ser817Gly) c.2515A>G (p.Ser839Gly) c.2512A>G (p.Ser838Gly) c.2485A>G (p.Ser829Gly) c.2431A>G (p.Ser811Gly) c.2404A>G (p.Ser802Gly) c.2389A>G (p.Ser797Gly) c.1996A>G (p.Ser666Gly) c.2458A>G (p.Ser820Gly) c.2395A>G (p.Ser799Gly) c.2392A>G (p.Ser798Gly) c.2350A>G (p.Ser784Gly) c.1423A>G (p.Ser475Gly) | |
20 | g.63406856T>G | CA409637232 | KCNQ2 | c.2461A>C (p.Ser821Arg) c.2407A>C (p.Ser803Arg) c.1804A>C (p.Ser602Arg) c.2314A>C (p.Ser772Arg) c.1975A>C (p.Ser659Arg) c.2323A>C (p.Ser775Arg) c.2241+190A>C (n.2241+190A>C) c.2205+190A>C (n.2205+190A>C) c.2353A>C (p.Ser785Arg) c.2133+190A>C (n.2133+190A>C) c.1680-6013A>C (n.1680-6013A>C) c.2449A>C (p.Ser817Arg) c.2515A>C (p.Ser839Arg) c.2512A>C (p.Ser838Arg) c.2485A>C (p.Ser829Arg) c.2431A>C (p.Ser811Arg) c.2404A>C (p.Ser802Arg) c.2389A>C (p.Ser797Arg) c.1996A>C (p.Ser666Arg) c.2458A>C (p.Ser820Arg) c.2395A>C (p.Ser799Arg) c.2392A>C (p.Ser798Arg) c.2350A>C (p.Ser784Arg) c.1423A>C (p.Ser475Arg) | |
20 | g.63406857G>A | CA511339417 | KCNQ2 | c.2460C>T (p.Phe820=) c.2406C>T (p.Phe802=) c.1803C>T (p.Phe601=) c.2313C>T (p.Phe771=) c.1974C>T (p.Phe658=) c.2322C>T (p.Phe774=) c.2241+189C>T (n.2241+189C>T) c.2205+189C>T (n.2205+189C>T) c.2352C>T (p.Phe784=) c.2133+189C>T (n.2133+189C>T) c.1680-6014C>T (n.1680-6014C>T) c.2448C>T (p.Phe816=) c.2514C>T (p.Phe838=) c.2511C>T (p.Phe837=) c.2484C>T (p.Phe828=) c.2430C>T (p.Phe810=) c.2403C>T (p.Phe801=) c.2388C>T (p.Phe796=) c.1995C>T (p.Phe665=) c.2457C>T (p.Phe819=) c.2394C>T (p.Phe798=) c.2391C>T (p.Phe797=) c.2349C>T (p.Phe783=) c.1422C>T (p.Phe474=) | dbSNP COSMIC COSMIC COSMIC |
20 | g.63406857G>C | CA409637235 | KCNQ2 | c.2460C>G (p.Phe820Leu) c.2406C>G (p.Phe802Leu) c.1803C>G (p.Phe601Leu) c.2313C>G (p.Phe771Leu) c.1974C>G (p.Phe658Leu) c.2322C>G (p.Phe774Leu) c.2241+189C>G (n.2241+189C>G) c.2205+189C>G (n.2205+189C>G) c.2352C>G (p.Phe784Leu) c.2133+189C>G (n.2133+189C>G) c.1680-6014C>G (n.1680-6014C>G) c.2448C>G (p.Phe816Leu) c.2514C>G (p.Phe838Leu) c.2511C>G (p.Phe837Leu) c.2484C>G (p.Phe828Leu) c.2430C>G (p.Phe810Leu) c.2403C>G (p.Phe801Leu) c.2388C>G (p.Phe796Leu) c.1995C>G (p.Phe665Leu) c.2457C>G (p.Phe819Leu) c.2394C>G (p.Phe798Leu) c.2391C>G (p.Phe797Leu) c.2349C>G (p.Phe783Leu) c.1422C>G (p.Phe474Leu) | |
20 | g.63406857G= | CA2374774274 | KCNQ2 | c.2460C= (p.Phe820=) c.2406C= (p.Phe802=) c.1803C= (p.Phe601=) c.2313C= (p.Phe771=) c.1974C= (p.Phe658=) c.2322C= (p.Phe774=) c.2241+189C= (n.2241+189C=) c.2205+189C= (n.2205+189C=) c.2352C= (p.Phe784=) c.2133+189C= (n.2133+189C=) c.1680-6014C= (n.1680-6014C=) c.2448C= (p.Phe816=) c.2514C= (p.Phe838=) c.2511C= (p.Phe837=) c.2484C= (p.Phe828=) c.2430C= (p.Phe810=) c.2403C= (p.Phe801=) c.2388C= (p.Phe796=) c.1995C= (p.Phe665=) c.2457C= (p.Phe819=) c.2394C= (p.Phe798=) c.2391C= (p.Phe797=) c.2349C= (p.Phe783=) c.1422C= (p.Phe474=) | |
20 | g.63406857G>T | CA409637234 | KCNQ2 | c.2460C>A (p.Phe820Leu) c.2406C>A (p.Phe802Leu) c.1803C>A (p.Phe601Leu) c.2313C>A (p.Phe771Leu) c.1974C>A (p.Phe658Leu) c.2322C>A (p.Phe774Leu) c.2241+189C>A (n.2241+189C>A) c.2205+189C>A (n.2205+189C>A) c.2352C>A (p.Phe784Leu) c.2133+189C>A (n.2133+189C>A) c.1680-6014C>A (n.1680-6014C>A) c.2448C>A (p.Phe816Leu) c.2514C>A (p.Phe838Leu) c.2511C>A (p.Phe837Leu) c.2484C>A (p.Phe828Leu) c.2430C>A (p.Phe810Leu) c.2403C>A (p.Phe801Leu) c.2388C>A (p.Phe796Leu) c.1995C>A (p.Phe665Leu) c.2457C>A (p.Phe819Leu) c.2394C>A (p.Phe798Leu) c.2391C>A (p.Phe797Leu) c.2349C>A (p.Phe783Leu) c.1422C>A (p.Phe474Leu) | |
20 | g.63406858A>C | CA409637238 | KCNQ2 | c.2459T>G (p.Phe820Cys) c.2405T>G (p.Phe802Cys) c.1802T>G (p.Phe601Cys) c.2312T>G (p.Phe771Cys) c.1973T>G (p.Phe658Cys) c.2321T>G (p.Phe774Cys) c.2241+188T>G (n.2241+188T>G) c.2205+188T>G (n.2205+188T>G) c.2351T>G (p.Phe784Cys) c.2133+188T>G (n.2133+188T>G) c.1680-6015T>G (n.1680-6015T>G) c.2447T>G (p.Phe816Cys) c.2513T>G (p.Phe838Cys) c.2510T>G (p.Phe837Cys) c.2483T>G (p.Phe828Cys) c.2429T>G (p.Phe810Cys) c.2402T>G (p.Phe801Cys) c.2387T>G (p.Phe796Cys) c.1994T>G (p.Phe665Cys) c.2456T>G (p.Phe819Cys) c.2393T>G (p.Phe798Cys) c.2390T>G (p.Phe797Cys) c.2348T>G (p.Phe783Cys) c.1421T>G (p.Phe474Cys) | |
20 | g.63406858A>G | CA409637242 | KCNQ2 | c.2459T>C (p.Phe820Ser) c.2405T>C (p.Phe802Ser) c.1802T>C (p.Phe601Ser) c.2312T>C (p.Phe771Ser) c.1973T>C (p.Phe658Ser) c.2321T>C (p.Phe774Ser) c.2241+188T>C (n.2241+188T>C) c.2205+188T>C (n.2205+188T>C) c.2351T>C (p.Phe784Ser) c.2133+188T>C (n.2133+188T>C) c.1680-6015T>C (n.1680-6015T>C) c.2447T>C (p.Phe816Ser) c.2513T>C (p.Phe838Ser) c.2510T>C (p.Phe837Ser) c.2483T>C (p.Phe828Ser) c.2429T>C (p.Phe810Ser) c.2402T>C (p.Phe801Ser) c.2387T>C (p.Phe796Ser) c.1994T>C (p.Phe665Ser) c.2456T>C (p.Phe819Ser) c.2393T>C (p.Phe798Ser) c.2390T>C (p.Phe797Ser) c.2348T>C (p.Phe783Ser) c.1421T>C (p.Phe474Ser) | |
20 | g.63406858A>T | CA409637240 | KCNQ2 | c.2459T>A (p.Phe820Tyr) c.2405T>A (p.Phe802Tyr) c.1802T>A (p.Phe601Tyr) c.2312T>A (p.Phe771Tyr) c.1973T>A (p.Phe658Tyr) c.2321T>A (p.Phe774Tyr) c.2241+188T>A (n.2241+188T>A) c.2205+188T>A (n.2205+188T>A) c.2351T>A (p.Phe784Tyr) c.2133+188T>A (n.2133+188T>A) c.1680-6015T>A (n.1680-6015T>A) c.2447T>A (p.Phe816Tyr) c.2513T>A (p.Phe838Tyr) c.2510T>A (p.Phe837Tyr) c.2483T>A (p.Phe828Tyr) c.2429T>A (p.Phe810Tyr) c.2402T>A (p.Phe801Tyr) c.2387T>A (p.Phe796Tyr) c.1994T>A (p.Phe665Tyr) c.2456T>A (p.Phe819Tyr) c.2393T>A (p.Phe798Tyr) c.2390T>A (p.Phe797Tyr) c.2348T>A (p.Phe783Tyr) c.1421T>A (p.Phe474Tyr) | |
20 | g.63406859A= | CA2374774275 | KCNQ2 | c.2458T= (p.Phe820=) c.2404T= (p.Phe802=) c.1801T= (p.Phe601=) c.2311T= (p.Phe771=) c.1972T= (p.Phe658=) c.2320T= (p.Phe774=) c.2241+187T= (n.2241+187T=) c.2205+187T= (n.2205+187T=) c.2350T= (p.Phe784=) c.2133+187T= (n.2133+187T=) c.1680-6016T= (n.1680-6016T=) c.2446T= (p.Phe816=) c.2512T= (p.Phe838=) c.2509T= (p.Phe837=) c.2482T= (p.Phe828=) c.2428T= (p.Phe810=) c.2401T= (p.Phe801=) c.2386T= (p.Phe796=) c.1993T= (p.Phe665=) c.2455T= (p.Phe819=) c.2392T= (p.Phe798=) c.2389T= (p.Phe797=) c.2347T= (p.Phe783=) c.1420T= (p.Phe474=) | |
20 | g.63406859A>C | CA409637245 | KCNQ2 | c.2458T>G (p.Phe820Val) c.2404T>G (p.Phe802Val) c.1801T>G (p.Phe601Val) c.2311T>G (p.Phe771Val) c.1972T>G (p.Phe658Val) c.2320T>G (p.Phe774Val) c.2241+187T>G (n.2241+187T>G) c.2205+187T>G (n.2205+187T>G) c.2350T>G (p.Phe784Val) c.2133+187T>G (n.2133+187T>G) c.1680-6016T>G (n.1680-6016T>G) c.2446T>G (p.Phe816Val) c.2512T>G (p.Phe838Val) c.2509T>G (p.Phe837Val) c.2482T>G (p.Phe828Val) c.2428T>G (p.Phe810Val) c.2401T>G (p.Phe801Val) c.2386T>G (p.Phe796Val) c.1993T>G (p.Phe665Val) c.2455T>G (p.Phe819Val) c.2392T>G (p.Phe798Val) c.2389T>G (p.Phe797Val) c.2347T>G (p.Phe783Val) c.1420T>G (p.Phe474Val) | dbSNP gnomAD v4 |
20 | g.63406859A>G | CA315525 | KCNQ2 | c.2458T>C (p.Phe820Leu) c.2404T>C (p.Phe802Leu) c.1801T>C (p.Phe601Leu) c.2311T>C (p.Phe771Leu) c.1972T>C (p.Phe658Leu) c.2320T>C (p.Phe774Leu) c.2241+187T>C (n.2241+187T>C) c.2205+187T>C (n.2205+187T>C) c.2350T>C (p.Phe784Leu) c.2133+187T>C (n.2133+187T>C) c.1680-6016T>C (n.1680-6016T>C) c.2446T>C (p.Phe816Leu) c.2512T>C (p.Phe838Leu) c.2509T>C (p.Phe837Leu) c.2482T>C (p.Phe828Leu) c.2428T>C (p.Phe810Leu) c.2401T>C (p.Phe801Leu) c.2386T>C (p.Phe796Leu) c.1993T>C (p.Phe665Leu) c.2455T>C (p.Phe819Leu) c.2392T>C (p.Phe798Leu) c.2389T>C (p.Phe797Leu) c.2347T>C (p.Phe783Leu) c.1420T>C (p.Phe474Leu) | ClinVar dbSNP |
20 | g.63406859A>T | CA409637248 | KCNQ2 | c.2458T>A (p.Phe820Ile) c.2404T>A (p.Phe802Ile) c.1801T>A (p.Phe601Ile) c.2311T>A (p.Phe771Ile) c.1972T>A (p.Phe658Ile) c.2320T>A (p.Phe774Ile) c.2241+187T>A (n.2241+187T>A) c.2205+187T>A (n.2205+187T>A) c.2350T>A (p.Phe784Ile) c.2133+187T>A (n.2133+187T>A) c.1680-6016T>A (n.1680-6016T>A) c.2446T>A (p.Phe816Ile) c.2512T>A (p.Phe838Ile) c.2509T>A (p.Phe837Ile) c.2482T>A (p.Phe828Ile) c.2428T>A (p.Phe810Ile) c.2401T>A (p.Phe801Ile) c.2386T>A (p.Phe796Ile) c.1993T>A (p.Phe665Ile) c.2455T>A (p.Phe819Ile) c.2392T>A (p.Phe798Ile) c.2389T>A (p.Phe797Ile) c.2347T>A (p.Phe783Ile) c.1420T>A (p.Phe474Ile) | |
20 | g.63406860G>A | CA511339420 | KCNQ2 | c.2457C>T (p.Ser819=) c.2403C>T (p.Ser801=) c.1800C>T (p.Ser600=) c.2310C>T (p.Ser770=) c.1971C>T (p.Ser657=) c.2319C>T (p.Ser773=) c.2241+186C>T (n.2241+186C>T) c.2205+186C>T (n.2205+186C>T) c.2349C>T (p.Ser783=) c.2133+186C>T (n.2133+186C>T) c.1680-6017C>T (n.1680-6017C>T) c.2445C>T (p.Ser815=) c.2511C>T (p.Ser837=) c.2508C>T (p.Ser836=) c.2481C>T (p.Ser827=) c.2427C>T (p.Ser809=) c.2400C>T (p.Ser800=) c.2385C>T (p.Ser795=) c.1992C>T (p.Ser664=) c.2454C>T (p.Ser818=) c.2391C>T (p.Ser797=) c.2388C>T (p.Ser796=) c.2346C>T (p.Ser782=) c.1419C>T (p.Ser473=) | |
20 | g.63406860G>C | CA511339421 | KCNQ2 | c.2457C>G (p.Ser819=) c.2403C>G (p.Ser801=) c.1800C>G (p.Ser600=) c.2310C>G (p.Ser770=) c.1971C>G (p.Ser657=) c.2319C>G (p.Ser773=) c.2241+186C>G (n.2241+186C>G) c.2205+186C>G (n.2205+186C>G) c.2349C>G (p.Ser783=) c.2133+186C>G (n.2133+186C>G) c.1680-6017C>G (n.1680-6017C>G) c.2445C>G (p.Ser815=) c.2511C>G (p.Ser837=) c.2508C>G (p.Ser836=) c.2481C>G (p.Ser827=) c.2427C>G (p.Ser809=) c.2400C>G (p.Ser800=) c.2385C>G (p.Ser795=) c.1992C>G (p.Ser664=) c.2454C>G (p.Ser818=) c.2391C>G (p.Ser797=) c.2388C>G (p.Ser796=) c.2346C>G (p.Ser782=) c.1419C>G (p.Ser473=) | ClinVar |
20 | g.63406860G>T | CA511339422 | KCNQ2 | c.2457C>A (p.Ser819=) c.2403C>A (p.Ser801=) c.1800C>A (p.Ser600=) c.2310C>A (p.Ser770=) c.1971C>A (p.Ser657=) c.2319C>A (p.Ser773=) c.2241+186C>A (n.2241+186C>A) c.2205+186C>A (n.2205+186C>A) c.2349C>A (p.Ser783=) c.2133+186C>A (n.2133+186C>A) c.1680-6017C>A (n.1680-6017C>A) c.2445C>A (p.Ser815=) c.2511C>A (p.Ser837=) c.2508C>A (p.Ser836=) c.2481C>A (p.Ser827=) c.2427C>A (p.Ser809=) c.2400C>A (p.Ser800=) c.2385C>A (p.Ser795=) c.1992C>A (p.Ser664=) c.2454C>A (p.Ser818=) c.2391C>A (p.Ser797=) c.2388C>A (p.Ser796=) c.2346C>A (p.Ser782=) c.1419C>A (p.Ser473=) | |
20 | g.63406861del | CA2499225799 | KCNQ2 | c.2457del (p.Phe820SerfsTer?) c.2403del (p.Phe802SerfsTer?) c.1800del (p.Phe601SerfsTer?) c.2310del (p.Phe771SerfsTer?) c.1971del (p.Phe658SerfsTer?) c.2319del (p.Phe774SerfsTer?) c.2241+186del (n.2241+186del) c.2205+186del (n.2205+186del) c.2349del (p.Phe784SerfsTer?) c.2133+186del (n.2133+186del) c.1680-6017del (n.1680-6017del) c.2445del (p.Phe816SerfsTer?) c.2511del (p.Phe838SerfsTer?) c.2508del (p.Phe837SerfsTer?) c.2481del (p.Phe828SerfsTer?) c.2427del (p.Phe810SerfsTer?) c.2400del (p.Phe801SerfsTer?) c.2385del (p.Phe796SerfsTer?) c.1992del (p.Phe665SerfsTer?) c.2454del (p.Phe819SerfsTer?) c.2391del (p.Phe798SerfsTer?) c.2388del (p.Phe797SerfsTer?) c.2346del (p.Phe783SerfsTer?) c.1419del (p.Phe474SerfsTer?) | ClinVar dbSNP |
20 | g.63406861G>A | CA409637250 | KCNQ2 | c.2456C>T (p.Ser819Phe) c.2402C>T (p.Ser801Phe) c.1799C>T (p.Ser600Phe) c.2309C>T (p.Ser770Phe) c.1970C>T (p.Ser657Phe) c.2318C>T (p.Ser773Phe) c.2241+185C>T (n.2241+185C>T) c.2205+185C>T (n.2205+185C>T) c.2348C>T (p.Ser783Phe) c.2133+185C>T (n.2133+185C>T) c.1680-6018C>T (n.1680-6018C>T) c.2444C>T (p.Ser815Phe) c.2510C>T (p.Ser837Phe) c.2507C>T (p.Ser836Phe) c.2480C>T (p.Ser827Phe) c.2426C>T (p.Ser809Phe) c.2399C>T (p.Ser800Phe) c.2384C>T (p.Ser795Phe) c.1991C>T (p.Ser664Phe) c.2453C>T (p.Ser818Phe) c.2390C>T (p.Ser797Phe) c.2387C>T (p.Ser796Phe) c.2345C>T (p.Ser782Phe) c.1418C>T (p.Ser473Phe) | |
20 | g.63406861G>C | CA409637252 | KCNQ2 | c.2456C>G (p.Ser819Cys) c.2402C>G (p.Ser801Cys) c.1799C>G (p.Ser600Cys) c.2309C>G (p.Ser770Cys) c.1970C>G (p.Ser657Cys) c.2318C>G (p.Ser773Cys) c.2241+185C>G (n.2241+185C>G) c.2205+185C>G (n.2205+185C>G) c.2348C>G (p.Ser783Cys) c.2133+185C>G (n.2133+185C>G) c.1680-6018C>G (n.1680-6018C>G) c.2444C>G (p.Ser815Cys) c.2510C>G (p.Ser837Cys) c.2507C>G (p.Ser836Cys) c.2480C>G (p.Ser827Cys) c.2426C>G (p.Ser809Cys) c.2399C>G (p.Ser800Cys) c.2384C>G (p.Ser795Cys) c.1991C>G (p.Ser664Cys) c.2453C>G (p.Ser818Cys) c.2390C>G (p.Ser797Cys) c.2387C>G (p.Ser796Cys) c.2345C>G (p.Ser782Cys) c.1418C>G (p.Ser473Cys) | |
20 | g.63406861G>T | CA409637254 | KCNQ2 | c.2456C>A (p.Ser819Tyr) c.2402C>A (p.Ser801Tyr) c.1799C>A (p.Ser600Tyr) c.2309C>A (p.Ser770Tyr) c.1970C>A (p.Ser657Tyr) c.2318C>A (p.Ser773Tyr) c.2241+185C>A (n.2241+185C>A) c.2205+185C>A (n.2205+185C>A) c.2348C>A (p.Ser783Tyr) c.2133+185C>A (n.2133+185C>A) c.1680-6018C>A (n.1680-6018C>A) c.2444C>A (p.Ser815Tyr) c.2510C>A (p.Ser837Tyr) c.2507C>A (p.Ser836Tyr) c.2480C>A (p.Ser827Tyr) c.2426C>A (p.Ser809Tyr) c.2399C>A (p.Ser800Tyr) c.2384C>A (p.Ser795Tyr) c.1991C>A (p.Ser664Tyr) c.2453C>A (p.Ser818Tyr) c.2390C>A (p.Ser797Tyr) c.2387C>A (p.Ser796Tyr) c.2345C>A (p.Ser782Tyr) c.1418C>A (p.Ser473Tyr) | |
20 | g.63406861_63406862delinsGA | CA2374774276 | KCNQ2 | c.2455_2456delinsTC (p.Ser819=) c.2401_2402delinsTC (p.Ser801=) c.1798_1799delinsTC (p.Ser600=) c.2308_2309delinsTC (p.Ser770=) c.1969_1970delinsTC (p.Ser657=) c.2317_2318delinsTC (p.Ser773=) c.2241+184_2241+185delinsTC (n.2241+184_2241+185delinsTC) c.2205+184_2205+185delinsTC (n.2205+184_2205+185delinsTC) c.2347_2348delinsTC (p.Ser783=) c.2133+184_2133+185delinsTC (n.2133+184_2133+185delinsTC) c.1680-6019_1680-6018delinsTC (n.1680-6019_1680-6018delinsTC) c.2443_2444delinsTC (p.Ser815=) c.2509_2510delinsTC (p.Ser837=) c.2506_2507delinsTC (p.Ser836=) c.2479_2480delinsTC (p.Ser827=) c.2425_2426delinsTC (p.Ser809=) c.2398_2399delinsTC (p.Ser800=) c.2383_2384delinsTC (p.Ser795=) c.1990_1991delinsTC (p.Ser664=) c.2452_2453delinsTC (p.Ser818=) c.2389_2390delinsTC (p.Ser797=) c.2386_2387delinsTC (p.Ser796=) c.2344_2345delinsTC (p.Ser782=) c.1417_1418delinsTC (p.Ser473=) | |
20 | g.63406862A>C | CA409637256 | KCNQ2 | c.2455T>G (p.Ser819Ala) c.2401T>G (p.Ser801Ala) c.1798T>G (p.Ser600Ala) c.2308T>G (p.Ser770Ala) c.1969T>G (p.Ser657Ala) c.2317T>G (p.Ser773Ala) c.2241+184T>G (n.2241+184T>G) c.2205+184T>G (n.2205+184T>G) c.2347T>G (p.Ser783Ala) c.2133+184T>G (n.2133+184T>G) c.1680-6019T>G (n.1680-6019T>G) c.2443T>G (p.Ser815Ala) c.2509T>G (p.Ser837Ala) c.2506T>G (p.Ser836Ala) c.2479T>G (p.Ser827Ala) c.2425T>G (p.Ser809Ala) c.2398T>G (p.Ser800Ala) c.2383T>G (p.Ser795Ala) c.1990T>G (p.Ser664Ala) c.2452T>G (p.Ser818Ala) c.2389T>G (p.Ser797Ala) c.2386T>G (p.Ser796Ala) c.2344T>G (p.Ser782Ala) c.1417T>G (p.Ser473Ala) | |
20 | g.63406862A>G | CA409637258 | KCNQ2 | c.2455T>C (p.Ser819Pro) c.2401T>C (p.Ser801Pro) c.1798T>C (p.Ser600Pro) c.2308T>C (p.Ser770Pro) c.1969T>C (p.Ser657Pro) c.2317T>C (p.Ser773Pro) c.2241+184T>C (n.2241+184T>C) c.2205+184T>C (n.2205+184T>C) c.2347T>C (p.Ser783Pro) c.2133+184T>C (n.2133+184T>C) c.1680-6019T>C (n.1680-6019T>C) c.2443T>C (p.Ser815Pro) c.2509T>C (p.Ser837Pro) c.2506T>C (p.Ser836Pro) c.2479T>C (p.Ser827Pro) c.2425T>C (p.Ser809Pro) c.2398T>C (p.Ser800Pro) c.2383T>C (p.Ser795Pro) c.1990T>C (p.Ser664Pro) c.2452T>C (p.Ser818Pro) c.2389T>C (p.Ser797Pro) c.2386T>C (p.Ser796Pro) c.2344T>C (p.Ser782Pro) c.1417T>C (p.Ser473Pro) | |
20 | g.63406862A>T | CA409637260 | KCNQ2 | c.2455T>A (p.Ser819Thr) c.2401T>A (p.Ser801Thr) c.1798T>A (p.Ser600Thr) c.2308T>A (p.Ser770Thr) c.1969T>A (p.Ser657Thr) c.2317T>A (p.Ser773Thr) c.2241+184T>A (n.2241+184T>A) c.2205+184T>A (n.2205+184T>A) c.2347T>A (p.Ser783Thr) c.2133+184T>A (n.2133+184T>A) c.1680-6019T>A (n.1680-6019T>A) c.2443T>A (p.Ser815Thr) c.2509T>A (p.Ser837Thr) c.2506T>A (p.Ser836Thr) c.2479T>A (p.Ser827Thr) c.2425T>A (p.Ser809Thr) c.2398T>A (p.Ser800Thr) c.2383T>A (p.Ser795Thr) c.1990T>A (p.Ser664Thr) c.2452T>A (p.Ser818Thr) c.2389T>A (p.Ser797Thr) c.2386T>A (p.Ser796Thr) c.2344T>A (p.Ser782Thr) c.1417T>A (p.Ser473Thr) | |
20 | g.63406863del | CA16620960 | KCNQ2 | c.2455del (p.Ser819ProfsTer?) c.2401del (p.Ser801ProfsTer?) c.1798del (p.Ser600ProfsTer?) c.2308del (p.Ser770ProfsTer?) c.1969del (p.Ser657ProfsTer?) c.2317del (p.Ser773ProfsTer?) c.2241+184del (n.2241+184del) c.2205+184del (n.2205+184del) c.2347del (p.Ser783ProfsTer?) c.2133+184del (n.2133+184del) c.1680-6019del (n.1680-6019del) c.2443del (p.Ser815ProfsTer?) c.2509del (p.Ser837ProfsTer?) c.2506del (p.Ser836ProfsTer?) c.2479del (p.Ser827ProfsTer?) c.2425del (p.Ser809ProfsTer?) c.2398del (p.Ser800ProfsTer?) c.2383del (p.Ser795ProfsTer?) c.1990del (p.Ser664ProfsTer?) c.2452del (p.Ser818ProfsTer?) c.2389del (p.Ser797ProfsTer?) c.2386del (p.Ser796ProfsTer?) c.2344del (p.Ser782ProfsTer?) c.1417del (p.Ser473ProfsTer?) | ClinVar dbSNP |
20 | g.63406863A= | CA2374774277 | KCNQ2 | c.2454T= (p.Arg818=) c.2400T= (p.Arg800=) c.1797T= (p.Arg599=) c.2307T= (p.Arg769=) c.1968T= (p.Arg656=) c.2316T= (p.Arg772=) c.2241+183T= (n.2241+183T=) c.2205+183T= (n.2205+183T=) c.2346T= (p.Arg782=) c.2133+183T= (n.2133+183T=) c.1680-6020T= (n.1680-6020T=) c.2442T= (p.Arg814=) c.2508T= (p.Arg836=) c.2505T= (p.Arg835=) c.2478T= (p.Arg826=) c.2424T= (p.Arg808=) c.2397T= (p.Arg799=) c.2382T= (p.Arg794=) c.1989T= (p.Arg663=) c.2451T= (p.Arg817=) c.2388T= (p.Arg796=) c.2385T= (p.Arg795=) c.2343T= (p.Arg781=) c.1416T= (p.Arg472=) | |
20 | g.63406863A>C | CA511339424 | KCNQ2 | c.2454T>G (p.Arg818=) c.2400T>G (p.Arg800=) c.1797T>G (p.Arg599=) c.2307T>G (p.Arg769=) c.1968T>G (p.Arg656=) c.2316T>G (p.Arg772=) c.2241+183T>G (n.2241+183T>G) c.2205+183T>G (n.2205+183T>G) c.2346T>G (p.Arg782=) c.2133+183T>G (n.2133+183T>G) c.1680-6020T>G (n.1680-6020T>G) c.2442T>G (p.Arg814=) c.2508T>G (p.Arg836=) c.2505T>G (p.Arg835=) c.2478T>G (p.Arg826=) c.2424T>G (p.Arg808=) c.2397T>G (p.Arg799=) c.2382T>G (p.Arg794=) c.1989T>G (p.Arg663=) c.2451T>G (p.Arg817=) c.2388T>G (p.Arg796=) c.2385T>G (p.Arg795=) c.2343T>G (p.Arg781=) c.1416T>G (p.Arg472=) | |
20 | g.63406863A>G | CA511339426 | KCNQ2 | c.2454T>C (p.Arg818=) c.2400T>C (p.Arg800=) c.1797T>C (p.Arg599=) c.2307T>C (p.Arg769=) c.1968T>C (p.Arg656=) c.2316T>C (p.Arg772=) c.2241+183T>C (n.2241+183T>C) c.2205+183T>C (n.2205+183T>C) c.2346T>C (p.Arg782=) c.2133+183T>C (n.2133+183T>C) c.1680-6020T>C (n.1680-6020T>C) c.2442T>C (p.Arg814=) c.2508T>C (p.Arg836=) c.2505T>C (p.Arg835=) c.2478T>C (p.Arg826=) c.2424T>C (p.Arg808=) c.2397T>C (p.Arg799=) c.2382T>C (p.Arg794=) c.1989T>C (p.Arg663=) c.2451T>C (p.Arg817=) c.2388T>C (p.Arg796=) c.2385T>C (p.Arg795=) c.2343T>C (p.Arg781=) c.1416T>C (p.Arg472=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406863A>T | CA511339425 | KCNQ2 | c.2454T>A (p.Arg818=) c.2400T>A (p.Arg800=) c.1797T>A (p.Arg599=) c.2307T>A (p.Arg769=) c.1968T>A (p.Arg656=) c.2316T>A (p.Arg772=) c.2241+183T>A (n.2241+183T>A) c.2205+183T>A (n.2205+183T>A) c.2346T>A (p.Arg782=) c.2133+183T>A (n.2133+183T>A) c.1680-6020T>A (n.1680-6020T>A) c.2442T>A (p.Arg814=) c.2508T>A (p.Arg836=) c.2505T>A (p.Arg835=) c.2478T>A (p.Arg826=) c.2424T>A (p.Arg808=) c.2397T>A (p.Arg799=) c.2382T>A (p.Arg794=) c.1989T>A (p.Arg663=) c.2451T>A (p.Arg817=) c.2388T>A (p.Arg796=) c.2385T>A (p.Arg795=) c.2343T>A (p.Arg781=) c.1416T>A (p.Arg472=) | |
20 | g.63406864del | CA2697547447 | KCNQ2 | c.2453del (p.Arg818LeufsTer?) c.2399del (p.Arg800LeufsTer?) c.1796del (p.Arg599LeufsTer?) c.2306del (p.Arg769LeufsTer?) c.1967del (p.Arg656LeufsTer?) c.2315del (p.Arg772LeufsTer?) c.2241+182del (n.2241+182del) c.2205+182del (n.2205+182del) c.2345del (p.Arg782LeufsTer?) c.2133+182del (n.2133+182del) c.1680-6021del (n.1680-6021del) c.2441del (p.Arg814LeufsTer?) c.2507del (p.Arg836LeufsTer?) c.2504del (p.Arg835LeufsTer?) c.2477del (p.Arg826LeufsTer?) c.2423del (p.Arg808LeufsTer?) c.2396del (p.Arg799LeufsTer?) c.2381del (p.Arg794LeufsTer?) c.1988del (p.Arg663LeufsTer?) c.2450del (p.Arg817LeufsTer?) c.2387del (p.Arg796LeufsTer?) c.2384del (p.Arg795LeufsTer?) c.2342del (p.Arg781LeufsTer?) c.1415del (p.Arg472LeufsTer?) | ClinVar |
20 | g.63406864C>A | CA409637262 | KCNQ2 | c.2453G>T (p.Arg818Leu) c.2399G>T (p.Arg800Leu) c.1796G>T (p.Arg599Leu) c.2306G>T (p.Arg769Leu) c.1967G>T (p.Arg656Leu) c.2315G>T (p.Arg772Leu) c.2241+182G>T (n.2241+182G>T) c.2205+182G>T (n.2205+182G>T) c.2345G>T (p.Arg782Leu) c.2133+182G>T (n.2133+182G>T) c.1680-6021G>T (n.1680-6021G>T) c.2441G>T (p.Arg814Leu) c.2507G>T (p.Arg836Leu) c.2504G>T (p.Arg835Leu) c.2477G>T (p.Arg826Leu) c.2423G>T (p.Arg808Leu) c.2396G>T (p.Arg799Leu) c.2381G>T (p.Arg794Leu) c.1988G>T (p.Arg663Leu) c.2450G>T (p.Arg817Leu) c.2387G>T (p.Arg796Leu) c.2384G>T (p.Arg795Leu) c.2342G>T (p.Arg781Leu) c.1415G>T (p.Arg472Leu) | ClinVar |
20 | g.63406864C= | CA2374774278 | KCNQ2 | c.2453G= (p.Arg818=) c.2399G= (p.Arg800=) c.1796G= (p.Arg599=) c.2306G= (p.Arg769=) c.1967G= (p.Arg656=) c.2315G= (p.Arg772=) c.2241+182G= (n.2241+182G=) c.2205+182G= (n.2205+182G=) c.2345G= (p.Arg782=) c.2133+182G= (n.2133+182G=) c.1680-6021G= (n.1680-6021G=) c.2441G= (p.Arg814=) c.2507G= (p.Arg836=) c.2504G= (p.Arg835=) c.2477G= (p.Arg826=) c.2423G= (p.Arg808=) c.2396G= (p.Arg799=) c.2381G= (p.Arg794=) c.1988G= (p.Arg663=) c.2450G= (p.Arg817=) c.2387G= (p.Arg796=) c.2384G= (p.Arg795=) c.2342G= (p.Arg781=) c.1415G= (p.Arg472=) | |
20 | g.63406864C>G | CA409637264 | KCNQ2 | c.2453G>C (p.Arg818Pro) c.2399G>C (p.Arg800Pro) c.1796G>C (p.Arg599Pro) c.2306G>C (p.Arg769Pro) c.1967G>C (p.Arg656Pro) c.2315G>C (p.Arg772Pro) c.2241+182G>C (n.2241+182G>C) c.2205+182G>C (n.2205+182G>C) c.2345G>C (p.Arg782Pro) c.2133+182G>C (n.2133+182G>C) c.1680-6021G>C (n.1680-6021G>C) c.2441G>C (p.Arg814Pro) c.2507G>C (p.Arg836Pro) c.2504G>C (p.Arg835Pro) c.2477G>C (p.Arg826Pro) c.2423G>C (p.Arg808Pro) c.2396G>C (p.Arg799Pro) c.2381G>C (p.Arg794Pro) c.1988G>C (p.Arg663Pro) c.2450G>C (p.Arg817Pro) c.2387G>C (p.Arg796Pro) c.2384G>C (p.Arg795Pro) c.2342G>C (p.Arg781Pro) c.1415G>C (p.Arg472Pro) | |
20 | g.63406864C>T | CA9958080 | KCNQ2 | c.2453G>A (p.Arg818His) c.2399G>A (p.Arg800His) c.1796G>A (p.Arg599His) c.2306G>A (p.Arg769His) c.1967G>A (p.Arg656His) c.2315G>A (p.Arg772His) c.2241+182G>A (n.2241+182G>A) c.2205+182G>A (n.2205+182G>A) c.2345G>A (p.Arg782His) c.2133+182G>A (n.2133+182G>A) c.1680-6021G>A (n.1680-6021G>A) c.2441G>A (p.Arg814His) c.2507G>A (p.Arg836His) c.2504G>A (p.Arg835His) c.2477G>A (p.Arg826His) c.2423G>A (p.Arg808His) c.2396G>A (p.Arg799His) c.2381G>A (p.Arg794His) c.1988G>A (p.Arg663His) c.2450G>A (p.Arg817His) c.2387G>A (p.Arg796His) c.2384G>A (p.Arg795His) c.2342G>A (p.Arg781His) c.1415G>A (p.Arg472His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406865G>A | CA409637270 | KCNQ2 | c.2452C>T (p.Arg818Cys) c.2398C>T (p.Arg800Cys) c.1795C>T (p.Arg599Cys) c.2305C>T (p.Arg769Cys) c.1966C>T (p.Arg656Cys) c.2314C>T (p.Arg772Cys) c.2241+181C>T (n.2241+181C>T) c.2205+181C>T (n.2205+181C>T) c.2344C>T (p.Arg782Cys) c.2133+181C>T (n.2133+181C>T) c.1680-6022C>T (n.1680-6022C>T) c.2440C>T (p.Arg814Cys) c.2506C>T (p.Arg836Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) c.2422C>T (p.Arg808Cys) c.2395C>T (p.Arg799Cys) c.2380C>T (p.Arg794Cys) c.1987C>T (p.Arg663Cys) c.2449C>T (p.Arg817Cys) c.2386C>T (p.Arg796Cys) c.2383C>T (p.Arg795Cys) c.2341C>T (p.Arg781Cys) c.1414C>T (p.Arg472Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406865G>C | CA409637272 | KCNQ2 | c.2452C>G (p.Arg818Gly) c.2398C>G (p.Arg800Gly) c.1795C>G (p.Arg599Gly) c.2305C>G (p.Arg769Gly) c.1966C>G (p.Arg656Gly) c.2314C>G (p.Arg772Gly) c.2241+181C>G (n.2241+181C>G) c.2205+181C>G (n.2205+181C>G) c.2344C>G (p.Arg782Gly) c.2133+181C>G (n.2133+181C>G) c.1680-6022C>G (n.1680-6022C>G) c.2440C>G (p.Arg814Gly) c.2506C>G (p.Arg836Gly) c.2503C>G (p.Arg835Gly) c.2476C>G (p.Arg826Gly) c.2422C>G (p.Arg808Gly) c.2395C>G (p.Arg799Gly) c.2380C>G (p.Arg794Gly) c.1987C>G (p.Arg663Gly) c.2449C>G (p.Arg817Gly) c.2386C>G (p.Arg796Gly) c.2383C>G (p.Arg795Gly) c.2341C>G (p.Arg781Gly) c.1414C>G (p.Arg472Gly) | |
20 | g.63406865G= | CA2374774279 | KCNQ2 | c.2452C= (p.Arg818=) c.2398C= (p.Arg800=) c.1795C= (p.Arg599=) c.2305C= (p.Arg769=) c.1966C= (p.Arg656=) c.2314C= (p.Arg772=) c.2241+181C= (n.2241+181C=) c.2205+181C= (n.2205+181C=) c.2344C= (p.Arg782=) c.2133+181C= (n.2133+181C=) c.1680-6022C= (n.1680-6022C=) c.2440C= (p.Arg814=) c.2506C= (p.Arg836=) c.2503C= (p.Arg835=) c.2476C= (p.Arg826=) c.2422C= (p.Arg808=) c.2395C= (p.Arg799=) c.2380C= (p.Arg794=) c.1987C= (p.Arg663=) c.2449C= (p.Arg817=) c.2386C= (p.Arg796=) c.2383C= (p.Arg795=) c.2341C= (p.Arg781=) c.1414C= (p.Arg472=) | |
20 | g.63406865G>T | CA409637268 | KCNQ2 | c.2452C>A (p.Arg818Ser) c.2398C>A (p.Arg800Ser) c.1795C>A (p.Arg599Ser) c.2305C>A (p.Arg769Ser) c.1966C>A (p.Arg656Ser) c.2314C>A (p.Arg772Ser) c.2241+181C>A (n.2241+181C>A) c.2205+181C>A (n.2205+181C>A) c.2344C>A (p.Arg782Ser) c.2133+181C>A (n.2133+181C>A) c.1680-6022C>A (n.1680-6022C>A) c.2440C>A (p.Arg814Ser) c.2506C>A (p.Arg836Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) c.2422C>A (p.Arg808Ser) c.2395C>A (p.Arg799Ser) c.2380C>A (p.Arg794Ser) c.1987C>A (p.Arg663Ser) c.2449C>A (p.Arg817Ser) c.2386C>A (p.Arg796Ser) c.2383C>A (p.Arg795Ser) c.2341C>A (p.Arg781Ser) c.1414C>A (p.Arg472Ser) | |
20 | g.63406866C>A | CA409637274 | KCNQ2 | c.2451G>T (p.Glu817Asp) c.2397G>T (p.Glu799Asp) c.1794G>T (p.Glu598Asp) c.2304G>T (p.Glu768Asp) c.1965G>T (p.Glu655Asp) c.2313G>T (p.Glu771Asp) c.2241+180G>T (n.2241+180G>T) c.2205+180G>T (n.2205+180G>T) c.2343G>T (p.Glu781Asp) c.2133+180G>T (n.2133+180G>T) c.1680-6023G>T (n.1680-6023G>T) c.2439G>T (p.Glu813Asp) c.2505G>T (p.Glu835Asp) c.2502G>T (p.Glu834Asp) c.2475G>T (p.Glu825Asp) c.2421G>T (p.Glu807Asp) c.2394G>T (p.Glu798Asp) c.2379G>T (p.Glu793Asp) c.1986G>T (p.Glu662Asp) c.2448G>T (p.Glu816Asp) c.2385G>T (p.Glu795Asp) c.2382G>T (p.Glu794Asp) c.2340G>T (p.Glu780Asp) c.1413G>T (p.Glu471Asp) | |
20 | g.63406866C>G | CA409637276 | KCNQ2 | c.2451G>C (p.Glu817Asp) c.2397G>C (p.Glu799Asp) c.1794G>C (p.Glu598Asp) c.2304G>C (p.Glu768Asp) c.1965G>C (p.Glu655Asp) c.2313G>C (p.Glu771Asp) c.2241+180G>C (n.2241+180G>C) c.2205+180G>C (n.2205+180G>C) c.2343G>C (p.Glu781Asp) c.2133+180G>C (n.2133+180G>C) c.1680-6023G>C (n.1680-6023G>C) c.2439G>C (p.Glu813Asp) c.2505G>C (p.Glu835Asp) c.2502G>C (p.Glu834Asp) c.2475G>C (p.Glu825Asp) c.2421G>C (p.Glu807Asp) c.2394G>C (p.Glu798Asp) c.2379G>C (p.Glu793Asp) c.1986G>C (p.Glu662Asp) c.2448G>C (p.Glu816Asp) c.2385G>C (p.Glu795Asp) c.2382G>C (p.Glu794Asp) c.2340G>C (p.Glu780Asp) c.1413G>C (p.Glu471Asp) | |
20 | g.63406866C>T | CA511339428 | KCNQ2 | c.2451G>A (p.Glu817=) c.2397G>A (p.Glu799=) c.1794G>A (p.Glu598=) c.2304G>A (p.Glu768=) c.1965G>A (p.Glu655=) c.2313G>A (p.Glu771=) c.2241+180G>A (n.2241+180G>A) c.2205+180G>A (n.2205+180G>A) c.2343G>A (p.Glu781=) c.2133+180G>A (n.2133+180G>A) c.1680-6023G>A (n.1680-6023G>A) c.2439G>A (p.Glu813=) c.2505G>A (p.Glu835=) c.2502G>A (p.Glu834=) c.2475G>A (p.Glu825=) c.2421G>A (p.Glu807=) c.2394G>A (p.Glu798=) c.2379G>A (p.Glu793=) c.1986G>A (p.Glu662=) c.2448G>A (p.Glu816=) c.2385G>A (p.Glu795=) c.2382G>A (p.Glu794=) c.2340G>A (p.Glu780=) c.1413G>A (p.Glu471=) | |
20 | g.63406866dup | CA2839809648 | KCNQ2 | c.2451dup (p.Arg818AlafsTer?) c.2397dup (p.Arg800AlafsTer?) c.1794dup (p.Arg599AlafsTer?) c.2304dup (p.Arg769AlafsTer?) c.1965dup (p.Arg656AlafsTer?) c.2313dup (p.Arg772AlafsTer?) c.2241+180dup (n.2241+180dup) c.2205+180dup (n.2205+180dup) c.2343dup (p.Arg782AlafsTer?) c.2133+180dup (n.2133+180dup) c.1680-6023dup (n.1680-6023dup) c.2439dup (p.Arg814AlafsTer?) c.2505dup (p.Arg836AlafsTer?) c.2502dup (p.Arg835AlafsTer?) c.2475dup (p.Arg826AlafsTer?) c.2421dup (p.Arg808AlafsTer?) c.2394dup (p.Arg799AlafsTer?) c.2379dup (p.Arg794AlafsTer?) c.1986dup (p.Arg663AlafsTer?) c.2448dup (p.Arg817AlafsTer?) c.2385dup (p.Arg796AlafsTer?) c.2382dup (p.Arg795AlafsTer?) c.2340dup (p.Arg781AlafsTer?) c.1413dup (p.Arg472AlafsTer?) | |
20 | g.63406867T>A | CA409637278 | KCNQ2 | c.2450A>T (p.Glu817Val) c.2396A>T (p.Glu799Val) c.1793A>T (p.Glu598Val) c.2303A>T (p.Glu768Val) c.1964A>T (p.Glu655Val) c.2312A>T (p.Glu771Val) c.2241+179A>T (n.2241+179A>T) c.2205+179A>T (n.2205+179A>T) c.2342A>T (p.Glu781Val) c.2133+179A>T (n.2133+179A>T) c.1680-6024A>T (n.1680-6024A>T) c.2438A>T (p.Glu813Val) c.2504A>T (p.Glu835Val) c.2501A>T (p.Glu834Val) c.2474A>T (p.Glu825Val) c.2420A>T (p.Glu807Val) c.2393A>T (p.Glu798Val) c.2378A>T (p.Glu793Val) c.1985A>T (p.Glu662Val) c.2447A>T (p.Glu816Val) c.2384A>T (p.Glu795Val) c.2381A>T (p.Glu794Val) c.2339A>T (p.Glu780Val) c.1412A>T (p.Glu471Val) | |
20 | g.63406867T>C | CA409637280 | KCNQ2 | c.2450A>G (p.Glu817Gly) c.2396A>G (p.Glu799Gly) c.1793A>G (p.Glu598Gly) c.2303A>G (p.Glu768Gly) c.1964A>G (p.Glu655Gly) c.2312A>G (p.Glu771Gly) c.2241+179A>G (n.2241+179A>G) c.2205+179A>G (n.2205+179A>G) c.2342A>G (p.Glu781Gly) c.2133+179A>G (n.2133+179A>G) c.1680-6024A>G (n.1680-6024A>G) c.2438A>G (p.Glu813Gly) c.2504A>G (p.Glu835Gly) c.2501A>G (p.Glu834Gly) c.2474A>G (p.Glu825Gly) c.2420A>G (p.Glu807Gly) c.2393A>G (p.Glu798Gly) c.2378A>G (p.Glu793Gly) c.1985A>G (p.Glu662Gly) c.2447A>G (p.Glu816Gly) c.2384A>G (p.Glu795Gly) c.2381A>G (p.Glu794Gly) c.2339A>G (p.Glu780Gly) c.1412A>G (p.Glu471Gly) | |
20 | g.63406867T>G | CA409637282 | KCNQ2 | c.2450A>C (p.Glu817Ala) c.2396A>C (p.Glu799Ala) c.1793A>C (p.Glu598Ala) c.2303A>C (p.Glu768Ala) c.1964A>C (p.Glu655Ala) c.2312A>C (p.Glu771Ala) c.2241+179A>C (n.2241+179A>C) c.2205+179A>C (n.2205+179A>C) c.2342A>C (p.Glu781Ala) c.2133+179A>C (n.2133+179A>C) c.1680-6024A>C (n.1680-6024A>C) c.2438A>C (p.Glu813Ala) c.2504A>C (p.Glu835Ala) c.2501A>C (p.Glu834Ala) c.2474A>C (p.Glu825Ala) c.2420A>C (p.Glu807Ala) c.2393A>C (p.Glu798Ala) c.2378A>C (p.Glu793Ala) c.1985A>C (p.Glu662Ala) c.2447A>C (p.Glu816Ala) c.2384A>C (p.Glu795Ala) c.2381A>C (p.Glu794Ala) c.2339A>C (p.Glu780Ala) c.1412A>C (p.Glu471Ala) | |
20 | g.63406868C>A | CA409637290 | KCNQ2 | c.2449G>T (p.Glu817Ter) c.2395G>T (p.Glu799Ter) c.1792G>T (p.Glu598Ter) c.2302G>T (p.Glu768Ter) c.1963G>T (p.Glu655Ter) c.2311G>T (p.Glu771Ter) c.2241+178G>T (n.2241+178G>T) c.2205+178G>T (n.2205+178G>T) c.2341G>T (p.Glu781Ter) c.2133+178G>T (n.2133+178G>T) c.1680-6025G>T (n.1680-6025G>T) c.2437G>T (p.Glu813Ter) c.2503G>T (p.Glu835Ter) c.2500G>T (p.Glu834Ter) c.2473G>T (p.Glu825Ter) c.2419G>T (p.Glu807Ter) c.2392G>T (p.Glu798Ter) c.2377G>T (p.Glu793Ter) c.1984G>T (p.Glu662Ter) c.2446G>T (p.Glu816Ter) c.2383G>T (p.Glu795Ter) c.2380G>T (p.Glu794Ter) c.2338G>T (p.Glu780Ter) c.1411G>T (p.Glu471Ter) | |
20 | g.63406868C>G | CA409637284 | KCNQ2 | c.2449G>C (p.Glu817Gln) c.2395G>C (p.Glu799Gln) c.1792G>C (p.Glu598Gln) c.2302G>C (p.Glu768Gln) c.1963G>C (p.Glu655Gln) c.2311G>C (p.Glu771Gln) c.2241+178G>C (n.2241+178G>C) c.2205+178G>C (n.2205+178G>C) c.2341G>C (p.Glu781Gln) c.2133+178G>C (n.2133+178G>C) c.1680-6025G>C (n.1680-6025G>C) c.2437G>C (p.Glu813Gln) c.2503G>C (p.Glu835Gln) c.2500G>C (p.Glu834Gln) c.2473G>C (p.Glu825Gln) c.2419G>C (p.Glu807Gln) c.2392G>C (p.Glu798Gln) c.2377G>C (p.Glu793Gln) c.1984G>C (p.Glu662Gln) c.2446G>C (p.Glu816Gln) c.2383G>C (p.Glu795Gln) c.2380G>C (p.Glu794Gln) c.2338G>C (p.Glu780Gln) c.1411G>C (p.Glu471Gln) | |
20 | g.63406868C>T | CA409637287 | KCNQ2 | c.2449G>A (p.Glu817Lys) c.2395G>A (p.Glu799Lys) c.1792G>A (p.Glu598Lys) c.2302G>A (p.Glu768Lys) c.1963G>A (p.Glu655Lys) c.2311G>A (p.Glu771Lys) c.2241+178G>A (n.2241+178G>A) c.2205+178G>A (n.2205+178G>A) c.2341G>A (p.Glu781Lys) c.2133+178G>A (n.2133+178G>A) c.1680-6025G>A (n.1680-6025G>A) c.2437G>A (p.Glu813Lys) c.2503G>A (p.Glu835Lys) c.2500G>A (p.Glu834Lys) c.2473G>A (p.Glu825Lys) c.2419G>A (p.Glu807Lys) c.2392G>A (p.Glu798Lys) c.2377G>A (p.Glu793Lys) c.1984G>A (p.Glu662Lys) c.2446G>A (p.Glu816Lys) c.2383G>A (p.Glu795Lys) c.2380G>A (p.Glu794Lys) c.2338G>A (p.Glu780Lys) c.1411G>A (p.Glu471Lys) | |
20 | g.63406869del | CA2839809649 | KCNQ2 | c.2449del (p.Glu817SerfsTer?) c.2395del (p.Glu799SerfsTer?) c.1792del (p.Glu598SerfsTer?) c.2302del (p.Glu768SerfsTer?) c.1963del (p.Glu655SerfsTer?) c.2311del (p.Glu771SerfsTer?) c.2241+178del (n.2241+178del) c.2205+178del (n.2205+178del) c.2341del (p.Glu781SerfsTer?) c.2133+178del (n.2133+178del) c.1680-6025del (n.1680-6025del) c.2437del (p.Glu813SerfsTer?) c.2503del (p.Glu835SerfsTer?) c.2500del (p.Glu834SerfsTer?) c.2473del (p.Glu825SerfsTer?) c.2419del (p.Glu807SerfsTer?) c.2392del (p.Glu798SerfsTer?) c.2377del (p.Glu793SerfsTer?) c.1984del (p.Glu662SerfsTer?) c.2446del (p.Glu816SerfsTer?) c.2383del (p.Glu795SerfsTer?) c.2380del (p.Glu794SerfsTer?) c.2338del (p.Glu780SerfsTer?) c.1411del (p.Glu471SerfsTer?) | |
20 | g.63406869C>A | CA511339430 | KCNQ2 | c.2448G>T (p.Leu816=) c.2394G>T (p.Leu798=) c.1791G>T (p.Leu597=) c.2301G>T (p.Leu767=) c.1962G>T (p.Leu654=) c.2310G>T (p.Leu770=) c.2241+177G>T (n.2241+177G>T) c.2205+177G>T (n.2205+177G>T) c.2340G>T (p.Leu780=) c.2133+177G>T (n.2133+177G>T) c.1680-6026G>T (n.1680-6026G>T) c.2436G>T (p.Leu812=) c.2502G>T (p.Leu834=) c.2499G>T (p.Leu833=) c.2472G>T (p.Leu824=) c.2418G>T (p.Leu806=) c.2391G>T (p.Leu797=) c.2376G>T (p.Leu792=) c.1983G>T (p.Leu661=) c.2445G>T (p.Leu815=) c.2382G>T (p.Leu794=) c.2379G>T (p.Leu793=) c.2337G>T (p.Leu779=) c.1410G>T (p.Leu470=) | |
20 | g.63406869C= | CA2374774280 | KCNQ2 | c.2448G= (p.Leu816=) c.2394G= (p.Leu798=) c.1791G= (p.Leu597=) c.2301G= (p.Leu767=) c.1962G= (p.Leu654=) c.2310G= (p.Leu770=) c.2241+177G= (n.2241+177G=) c.2205+177G= (n.2205+177G=) c.2340G= (p.Leu780=) c.2133+177G= (n.2133+177G=) c.1680-6026G= (n.1680-6026G=) c.2436G= (p.Leu812=) c.2502G= (p.Leu834=) c.2499G= (p.Leu833=) c.2472G= (p.Leu824=) c.2418G= (p.Leu806=) c.2391G= (p.Leu797=) c.2376G= (p.Leu792=) c.1983G= (p.Leu661=) c.2445G= (p.Leu815=) c.2382G= (p.Leu794=) c.2379G= (p.Leu793=) c.2337G= (p.Leu779=) c.1410G= (p.Leu470=) | |
20 | g.63406869C>G | CA511339431 | KCNQ2 | c.2448G>C (p.Leu816=) c.2394G>C (p.Leu798=) c.1791G>C (p.Leu597=) c.2301G>C (p.Leu767=) c.1962G>C (p.Leu654=) c.2310G>C (p.Leu770=) c.2241+177G>C (n.2241+177G>C) c.2205+177G>C (n.2205+177G>C) c.2340G>C (p.Leu780=) c.2133+177G>C (n.2133+177G>C) c.1680-6026G>C (n.1680-6026G>C) c.2436G>C (p.Leu812=) c.2502G>C (p.Leu834=) c.2499G>C (p.Leu833=) c.2472G>C (p.Leu824=) c.2418G>C (p.Leu806=) c.2391G>C (p.Leu797=) c.2376G>C (p.Leu792=) c.1983G>C (p.Leu661=) c.2445G>C (p.Leu815=) c.2382G>C (p.Leu794=) c.2379G>C (p.Leu793=) c.2337G>C (p.Leu779=) c.1410G>C (p.Leu470=) | |
20 | g.63406869C>T | CA9958081 | KCNQ2 | c.2448G>A (p.Leu816=) c.2394G>A (p.Leu798=) c.1791G>A (p.Leu597=) c.2301G>A (p.Leu767=) c.1962G>A (p.Leu654=) c.2310G>A (p.Leu770=) c.2241+177G>A (n.2241+177G>A) c.2205+177G>A (n.2205+177G>A) c.2340G>A (p.Leu780=) c.2133+177G>A (n.2133+177G>A) c.1680-6026G>A (n.1680-6026G>A) c.2436G>A (p.Leu812=) c.2502G>A (p.Leu834=) c.2499G>A (p.Leu833=) c.2472G>A (p.Leu824=) c.2418G>A (p.Leu806=) c.2391G>A (p.Leu797=) c.2376G>A (p.Leu792=) c.1983G>A (p.Leu661=) c.2445G>A (p.Leu815=) c.2382G>A (p.Leu794=) c.2379G>A (p.Leu793=) c.2337G>A (p.Leu779=) c.1410G>A (p.Leu470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406870A>C | CA409637296 | KCNQ2 | c.2447T>G (p.Leu816Arg) c.2393T>G (p.Leu798Arg) c.1790T>G (p.Leu597Arg) c.2300T>G (p.Leu767Arg) c.1961T>G (p.Leu654Arg) c.2309T>G (p.Leu770Arg) c.2241+176T>G (n.2241+176T>G) c.2205+176T>G (n.2205+176T>G) c.2339T>G (p.Leu780Arg) c.2133+176T>G (n.2133+176T>G) c.1680-6027T>G (n.1680-6027T>G) c.2435T>G (p.Leu812Arg) c.2501T>G (p.Leu834Arg) c.2498T>G (p.Leu833Arg) c.2471T>G (p.Leu824Arg) c.2417T>G (p.Leu806Arg) c.2390T>G (p.Leu797Arg) c.2375T>G (p.Leu792Arg) c.1982T>G (p.Leu661Arg) c.2444T>G (p.Leu815Arg) c.2381T>G (p.Leu794Arg) c.2378T>G (p.Leu793Arg) c.2336T>G (p.Leu779Arg) c.1409T>G (p.Leu470Arg) | |
20 | g.63406870A>G | CA409637298 | KCNQ2 | c.2447T>C (p.Leu816Pro) c.2393T>C (p.Leu798Pro) c.1790T>C (p.Leu597Pro) c.2300T>C (p.Leu767Pro) c.1961T>C (p.Leu654Pro) c.2309T>C (p.Leu770Pro) c.2241+176T>C (n.2241+176T>C) c.2205+176T>C (n.2205+176T>C) c.2339T>C (p.Leu780Pro) c.2133+176T>C (n.2133+176T>C) c.1680-6027T>C (n.1680-6027T>C) c.2435T>C (p.Leu812Pro) c.2501T>C (p.Leu834Pro) c.2498T>C (p.Leu833Pro) c.2471T>C (p.Leu824Pro) c.2417T>C (p.Leu806Pro) c.2390T>C (p.Leu797Pro) c.2375T>C (p.Leu792Pro) c.1982T>C (p.Leu661Pro) c.2444T>C (p.Leu815Pro) c.2381T>C (p.Leu794Pro) c.2378T>C (p.Leu793Pro) c.2336T>C (p.Leu779Pro) c.1409T>C (p.Leu470Pro) | |
20 | g.63406870A>T | CA409637300 | KCNQ2 | c.2447T>A (p.Leu816Gln) c.2393T>A (p.Leu798Gln) c.1790T>A (p.Leu597Gln) c.2300T>A (p.Leu767Gln) c.1961T>A (p.Leu654Gln) c.2309T>A (p.Leu770Gln) c.2241+176T>A (n.2241+176T>A) c.2205+176T>A (n.2205+176T>A) c.2339T>A (p.Leu780Gln) c.2133+176T>A (n.2133+176T>A) c.1680-6027T>A (n.1680-6027T>A) c.2435T>A (p.Leu812Gln) c.2501T>A (p.Leu834Gln) c.2498T>A (p.Leu833Gln) c.2471T>A (p.Leu824Gln) c.2417T>A (p.Leu806Gln) c.2390T>A (p.Leu797Gln) c.2375T>A (p.Leu792Gln) c.1982T>A (p.Leu661Gln) c.2444T>A (p.Leu815Gln) c.2381T>A (p.Leu794Gln) c.2378T>A (p.Leu793Gln) c.2336T>A (p.Leu779Gln) c.1409T>A (p.Leu470Gln) | |
20 | g.63406871G>A | CA511339434 | KCNQ2 | c.2446C>T (p.Leu816=) c.2392C>T (p.Leu798=) c.1789C>T (p.Leu597=) c.2299C>T (p.Leu767=) c.1960C>T (p.Leu654=) c.2308C>T (p.Leu770=) c.2241+175C>T (n.2241+175C>T) c.2205+175C>T (n.2205+175C>T) c.2338C>T (p.Leu780=) c.2133+175C>T (n.2133+175C>T) c.1680-6028C>T (n.1680-6028C>T) c.2434C>T (p.Leu812=) c.2500C>T (p.Leu834=) c.2497C>T (p.Leu833=) c.2470C>T (p.Leu824=) c.2416C>T (p.Leu806=) c.2389C>T (p.Leu797=) c.2374C>T (p.Leu792=) c.1981C>T (p.Leu661=) c.2443C>T (p.Leu815=) c.2380C>T (p.Leu794=) c.2377C>T (p.Leu793=) c.2335C>T (p.Leu779=) c.1408C>T (p.Leu470=) | |
20 | g.63406871G>C | CA409637304 | KCNQ2 | c.2446C>G (p.Leu816Val) c.2392C>G (p.Leu798Val) c.1789C>G (p.Leu597Val) c.2299C>G (p.Leu767Val) c.1960C>G (p.Leu654Val) c.2308C>G (p.Leu770Val) c.2241+175C>G (n.2241+175C>G) c.2205+175C>G (n.2205+175C>G) c.2338C>G (p.Leu780Val) c.2133+175C>G (n.2133+175C>G) c.1680-6028C>G (n.1680-6028C>G) c.2434C>G (p.Leu812Val) c.2500C>G (p.Leu834Val) c.2497C>G (p.Leu833Val) c.2470C>G (p.Leu824Val) c.2416C>G (p.Leu806Val) c.2389C>G (p.Leu797Val) c.2374C>G (p.Leu792Val) c.1981C>G (p.Leu661Val) c.2443C>G (p.Leu815Val) c.2380C>G (p.Leu794Val) c.2377C>G (p.Leu793Val) c.2335C>G (p.Leu779Val) c.1408C>G (p.Leu470Val) | |
20 | g.63406871G>T | CA409637306 | KCNQ2 | c.2446C>A (p.Leu816Met) c.2392C>A (p.Leu798Met) c.1789C>A (p.Leu597Met) c.2299C>A (p.Leu767Met) c.1960C>A (p.Leu654Met) c.2308C>A (p.Leu770Met) c.2241+175C>A (n.2241+175C>A) c.2205+175C>A (n.2205+175C>A) c.2338C>A (p.Leu780Met) c.2133+175C>A (n.2133+175C>A) c.1680-6028C>A (n.1680-6028C>A) c.2434C>A (p.Leu812Met) c.2500C>A (p.Leu834Met) c.2497C>A (p.Leu833Met) c.2470C>A (p.Leu824Met) c.2416C>A (p.Leu806Met) c.2389C>A (p.Leu797Met) c.2374C>A (p.Leu792Met) c.1981C>A (p.Leu661Met) c.2443C>A (p.Leu815Met) c.2380C>A (p.Leu794Met) c.2377C>A (p.Leu793Met) c.2335C>A (p.Leu779Met) c.1408C>A (p.Leu470Met) | gnomAD v4 |
20 | g.63406871_63406885delinsGCTCCTCGTGGTCCA | CA2374774281 | KCNQ2 | c.2432_2446delinsTGGACCACGAGGAGC (p.Val811=) c.2378_2392delinsTGGACCACGAGGAGC (p.Val793=) c.1775_1789delinsTGGACCACGAGGAGC (p.Val592=) c.2285_2299delinsTGGACCACGAGGAGC (p.Val762=) c.1946_1960delinsTGGACCACGAGGAGC (p.Val649=) c.2294_2308delinsTGGACCACGAGGAGC (p.Val765=) c.2241+161_2241+175delinsTGGACCACGAGGAGC (n.2241+161_2241+175delinsTGGACCACGAGGAGC) c.2205+161_2205+175delinsTGGACCACGAGGAGC (n.2205+161_2205+175delinsTGGACCACGAGGAGC) c.2324_2338delinsTGGACCACGAGGAGC (p.Val775=) c.2133+161_2133+175delinsTGGACCACGAGGAGC (n.2133+161_2133+175delinsTGGACCACGAGGAGC) c.1680-6042_1680-6028delinsTGGACCACGAGGAGC (n.1680-6042_1680-6028delinsTGGACCACGAGGAGC) c.2420_2434delinsTGGACCACGAGGAGC (p.Val807=) c.2486_2500delinsTGGACCACGAGGAGC (p.Val829=) c.2483_2497delinsTGGACCACGAGGAGC (p.Val828=) c.2456_2470delinsTGGACCACGAGGAGC (p.Val819=) c.2402_2416delinsTGGACCACGAGGAGC (p.Val801=) c.2375_2389delinsTGGACCACGAGGAGC (p.Val792=) c.2360_2374delinsTGGACCACGAGGAGC (p.Val787=) c.1967_1981delinsTGGACCACGAGGAGC (p.Val656=) c.2429_2443delinsTGGACCACGAGGAGC (p.Val810=) c.2366_2380delinsTGGACCACGAGGAGC (p.Val789=) c.2363_2377delinsTGGACCACGAGGAGC (p.Val788=) c.2321_2335delinsTGGACCACGAGGAGC (p.Val774=) c.1394_1408delinsTGGACCACGAGGAGC (p.Val465=) | |
20 | g.63406872C>A | CA409637310 | KCNQ2 | c.2445G>T (p.Glu815Asp) c.2391G>T (p.Glu797Asp) c.1788G>T (p.Glu596Asp) c.2298G>T (p.Glu766Asp) c.1959G>T (p.Glu653Asp) c.2307G>T (p.Glu769Asp) c.2241+174G>T (n.2241+174G>T) c.2205+174G>T (n.2205+174G>T) c.2337G>T (p.Glu779Asp) c.2133+174G>T (n.2133+174G>T) c.1680-6029G>T (n.1680-6029G>T) c.2433G>T (p.Glu811Asp) c.2499G>T (p.Glu833Asp) c.2496G>T (p.Glu832Asp) c.2469G>T (p.Glu823Asp) c.2415G>T (p.Glu805Asp) c.2388G>T (p.Glu796Asp) c.2373G>T (p.Glu791Asp) c.1980G>T (p.Glu660Asp) c.2442G>T (p.Glu814Asp) c.2379G>T (p.Glu793Asp) c.2376G>T (p.Glu792Asp) c.2334G>T (p.Glu778Asp) c.1407G>T (p.Glu469Asp) | |
20 | g.63406872C>G | CA409637313 | KCNQ2 | c.2445G>C (p.Glu815Asp) c.2391G>C (p.Glu797Asp) c.1788G>C (p.Glu596Asp) c.2298G>C (p.Glu766Asp) c.1959G>C (p.Glu653Asp) c.2307G>C (p.Glu769Asp) c.2241+174G>C (n.2241+174G>C) c.2205+174G>C (n.2205+174G>C) c.2337G>C (p.Glu779Asp) c.2133+174G>C (n.2133+174G>C) c.1680-6029G>C (n.1680-6029G>C) c.2433G>C (p.Glu811Asp) c.2499G>C (p.Glu833Asp) c.2496G>C (p.Glu832Asp) c.2469G>C (p.Glu823Asp) c.2415G>C (p.Glu805Asp) c.2388G>C (p.Glu796Asp) c.2373G>C (p.Glu791Asp) c.1980G>C (p.Glu660Asp) c.2442G>C (p.Glu814Asp) c.2379G>C (p.Glu793Asp) c.2376G>C (p.Glu792Asp) c.2334G>C (p.Glu778Asp) c.1407G>C (p.Glu469Asp) | |
20 | g.63406872C>T | CA511339435 | KCNQ2 | c.2445G>A (p.Glu815=) c.2391G>A (p.Glu797=) c.1788G>A (p.Glu596=) c.2298G>A (p.Glu766=) c.1959G>A (p.Glu653=) c.2307G>A (p.Glu769=) c.2241+174G>A (n.2241+174G>A) c.2205+174G>A (n.2205+174G>A) c.2337G>A (p.Glu779=) c.2133+174G>A (n.2133+174G>A) c.1680-6029G>A (n.1680-6029G>A) c.2433G>A (p.Glu811=) c.2499G>A (p.Glu833=) c.2496G>A (p.Glu832=) c.2469G>A (p.Glu823=) c.2415G>A (p.Glu805=) c.2388G>A (p.Glu796=) c.2373G>A (p.Glu791=) c.1980G>A (p.Glu660=) c.2442G>A (p.Glu814=) c.2379G>A (p.Glu793=) c.2376G>A (p.Glu792=) c.2334G>A (p.Glu778=) c.1407G>A (p.Glu469=) | gnomAD v4 |
20 | g.63406873_63406886del | CA658799396 | KCNQ2 | c.2432_2445del (p.Val811AlafsTer?) c.2378_2391del (p.Val793AlafsTer?) c.1775_1788del (p.Val592AlafsTer?) c.2285_2298del (p.Val762AlafsTer?) c.1946_1959del (p.Val649AlafsTer?) c.2294_2307del (p.Val765AlafsTer?) c.2241+161_2241+174del (n.2241+161_2241+174del) c.2205+161_2205+174del (n.2205+161_2205+174del) c.2324_2337del (p.Val775AlafsTer?) c.2133+161_2133+174del (n.2133+161_2133+174del) c.1680-6042_1680-6029del (n.1680-6042_1680-6029del) c.2420_2433del (p.Val807AlafsTer?) c.2486_2499del (p.Val829AlafsTer?) c.2483_2496del (p.Val828AlafsTer?) c.2456_2469del (p.Val819AlafsTer?) c.2402_2415del (p.Val801AlafsTer?) c.2375_2388del (p.Val792AlafsTer?) c.2360_2373del (p.Val787AlafsTer?) c.1967_1980del (p.Val656AlafsTer?) c.2429_2442del (p.Val810AlafsTer?) c.2366_2379del (p.Val789AlafsTer?) c.2363_2376del (p.Val788AlafsTer?) c.2321_2334del (p.Val774AlafsTer?) c.1394_1407del (p.Val465AlafsTer?) | ClinVar dbSNP |
20 | g.63406873T>A | CA409637316 | KCNQ2 | c.2444A>T (p.Glu815Val) c.2390A>T (p.Glu797Val) c.1787A>T (p.Glu596Val) c.2297A>T (p.Glu766Val) c.1958A>T (p.Glu653Val) c.2306A>T (p.Glu769Val) c.2241+173A>T (n.2241+173A>T) c.2205+173A>T (n.2205+173A>T) c.2336A>T (p.Glu779Val) c.2133+173A>T (n.2133+173A>T) c.1680-6030A>T (n.1680-6030A>T) c.2432A>T (p.Glu811Val) c.2498A>T (p.Glu833Val) c.2495A>T (p.Glu832Val) c.2468A>T (p.Glu823Val) c.2414A>T (p.Glu805Val) c.2387A>T (p.Glu796Val) c.2372A>T (p.Glu791Val) c.1979A>T (p.Glu660Val) c.2441A>T (p.Glu814Val) c.2378A>T (p.Glu793Val) c.2375A>T (p.Glu792Val) c.2333A>T (p.Glu778Val) c.1406A>T (p.Glu469Val) | |
20 | g.63406873T>C | CA409637319 | KCNQ2 | c.2444A>G (p.Glu815Gly) c.2390A>G (p.Glu797Gly) c.1787A>G (p.Glu596Gly) c.2297A>G (p.Glu766Gly) c.1958A>G (p.Glu653Gly) c.2306A>G (p.Glu769Gly) c.2241+173A>G (n.2241+173A>G) c.2205+173A>G (n.2205+173A>G) c.2336A>G (p.Glu779Gly) c.2133+173A>G (n.2133+173A>G) c.1680-6030A>G (n.1680-6030A>G) c.2432A>G (p.Glu811Gly) c.2498A>G (p.Glu833Gly) c.2495A>G (p.Glu832Gly) c.2468A>G (p.Glu823Gly) c.2414A>G (p.Glu805Gly) c.2387A>G (p.Glu796Gly) c.2372A>G (p.Glu791Gly) c.1979A>G (p.Glu660Gly) c.2441A>G (p.Glu814Gly) c.2378A>G (p.Glu793Gly) c.2375A>G (p.Glu792Gly) c.2333A>G (p.Glu778Gly) c.1406A>G (p.Glu469Gly) | |
20 | g.63406873T>G | CA409637322 | KCNQ2 | c.2444A>C (p.Glu815Ala) c.2390A>C (p.Glu797Ala) c.1787A>C (p.Glu596Ala) c.2297A>C (p.Glu766Ala) c.1958A>C (p.Glu653Ala) c.2306A>C (p.Glu769Ala) c.2241+173A>C (n.2241+173A>C) c.2205+173A>C (n.2205+173A>C) c.2336A>C (p.Glu779Ala) c.2133+173A>C (n.2133+173A>C) c.1680-6030A>C (n.1680-6030A>C) c.2432A>C (p.Glu811Ala) c.2498A>C (p.Glu833Ala) c.2495A>C (p.Glu832Ala) c.2468A>C (p.Glu823Ala) c.2414A>C (p.Glu805Ala) c.2387A>C (p.Glu796Ala) c.2372A>C (p.Glu791Ala) c.1979A>C (p.Glu660Ala) c.2441A>C (p.Glu814Ala) c.2378A>C (p.Glu793Ala) c.2375A>C (p.Glu792Ala) c.2333A>C (p.Glu778Ala) c.1406A>C (p.Glu469Ala) | |
20 | g.63406874C>A | CA409637324 | KCNQ2 | c.2443G>T (p.Glu815Ter) c.2389G>T (p.Glu797Ter) c.1786G>T (p.Glu596Ter) c.2296G>T (p.Glu766Ter) c.1957G>T (p.Glu653Ter) c.2305G>T (p.Glu769Ter) c.2241+172G>T (n.2241+172G>T) c.2205+172G>T (n.2205+172G>T) c.2335G>T (p.Glu779Ter) c.2133+172G>T (n.2133+172G>T) c.1680-6031G>T (n.1680-6031G>T) c.2431G>T (p.Glu811Ter) c.2497G>T (p.Glu833Ter) c.2494G>T (p.Glu832Ter) c.2467G>T (p.Glu823Ter) c.2413G>T (p.Glu805Ter) c.2386G>T (p.Glu796Ter) c.2371G>T (p.Glu791Ter) c.1978G>T (p.Glu660Ter) c.2440G>T (p.Glu814Ter) c.2377G>T (p.Glu793Ter) c.2374G>T (p.Glu792Ter) c.2332G>T (p.Glu778Ter) c.1405G>T (p.Glu469Ter) | |
20 | g.63406874C>G | CA409637326 | KCNQ2 | c.2443G>C (p.Glu815Gln) c.2389G>C (p.Glu797Gln) c.1786G>C (p.Glu596Gln) c.2296G>C (p.Glu766Gln) c.1957G>C (p.Glu653Gln) c.2305G>C (p.Glu769Gln) c.2241+172G>C (n.2241+172G>C) c.2205+172G>C (n.2205+172G>C) c.2335G>C (p.Glu779Gln) c.2133+172G>C (n.2133+172G>C) c.1680-6031G>C (n.1680-6031G>C) c.2431G>C (p.Glu811Gln) c.2497G>C (p.Glu833Gln) c.2494G>C (p.Glu832Gln) c.2467G>C (p.Glu823Gln) c.2413G>C (p.Glu805Gln) c.2386G>C (p.Glu796Gln) c.2371G>C (p.Glu791Gln) c.1978G>C (p.Glu660Gln) c.2440G>C (p.Glu814Gln) c.2377G>C (p.Glu793Gln) c.2374G>C (p.Glu792Gln) c.2332G>C (p.Glu778Gln) c.1405G>C (p.Glu469Gln) | |
20 | g.63406874C>T | CA409637329 | KCNQ2 | c.2443G>A (p.Glu815Lys) c.2389G>A (p.Glu797Lys) c.1786G>A (p.Glu596Lys) c.2296G>A (p.Glu766Lys) c.1957G>A (p.Glu653Lys) c.2305G>A (p.Glu769Lys) c.2241+172G>A (n.2241+172G>A) c.2205+172G>A (n.2205+172G>A) c.2335G>A (p.Glu779Lys) c.2133+172G>A (n.2133+172G>A) c.1680-6031G>A (n.1680-6031G>A) c.2431G>A (p.Glu811Lys) c.2497G>A (p.Glu833Lys) c.2494G>A (p.Glu832Lys) c.2467G>A (p.Glu823Lys) c.2413G>A (p.Glu805Lys) c.2386G>A (p.Glu796Lys) c.2371G>A (p.Glu791Lys) c.1978G>A (p.Glu660Lys) c.2440G>A (p.Glu814Lys) c.2377G>A (p.Glu793Lys) c.2374G>A (p.Glu792Lys) c.2332G>A (p.Glu778Lys) c.1405G>A (p.Glu469Lys) | gnomAD v4 |
20 | g.63406875C>A | CA409637336 | KCNQ2 | c.2442G>T (p.Glu814Asp) c.2388G>T (p.Glu796Asp) c.1785G>T (p.Glu595Asp) c.2295G>T (p.Glu765Asp) c.1956G>T (p.Glu652Asp) c.2304G>T (p.Glu768Asp) c.2241+171G>T (n.2241+171G>T) c.2205+171G>T (n.2205+171G>T) c.2334G>T (p.Glu778Asp) c.2133+171G>T (n.2133+171G>T) c.1680-6032G>T (n.1680-6032G>T) c.2430G>T (p.Glu810Asp) c.2496G>T (p.Glu832Asp) c.2493G>T (p.Glu831Asp) c.2466G>T (p.Glu822Asp) c.2412G>T (p.Glu804Asp) c.2385G>T (p.Glu795Asp) c.2370G>T (p.Glu790Asp) c.1977G>T (p.Glu659Asp) c.2439G>T (p.Glu813Asp) c.2376G>T (p.Glu792Asp) c.2373G>T (p.Glu791Asp) c.2331G>T (p.Glu777Asp) c.1404G>T (p.Glu468Asp) | |
20 | g.63406875C= | CA2374774282 | KCNQ2 | c.2442G= (p.Glu814=) c.2388G= (p.Glu796=) c.1785G= (p.Glu595=) c.2295G= (p.Glu765=) c.1956G= (p.Glu652=) c.2304G= (p.Glu768=) c.2241+171G= (n.2241+171G=) c.2205+171G= (n.2205+171G=) c.2334G= (p.Glu778=) c.2133+171G= (n.2133+171G=) c.1680-6032G= (n.1680-6032G=) c.2430G= (p.Glu810=) c.2496G= (p.Glu832=) c.2493G= (p.Glu831=) c.2466G= (p.Glu822=) c.2412G= (p.Glu804=) c.2385G= (p.Glu795=) c.2370G= (p.Glu790=) c.1977G= (p.Glu659=) c.2439G= (p.Glu813=) c.2376G= (p.Glu792=) c.2373G= (p.Glu791=) c.2331G= (p.Glu777=) c.1404G= (p.Glu468=) | |
20 | g.63406875C>G | CA409637333 | KCNQ2 | c.2442G>C (p.Glu814Asp) c.2388G>C (p.Glu796Asp) c.1785G>C (p.Glu595Asp) c.2295G>C (p.Glu765Asp) c.1956G>C (p.Glu652Asp) c.2304G>C (p.Glu768Asp) c.2241+171G>C (n.2241+171G>C) c.2205+171G>C (n.2205+171G>C) c.2334G>C (p.Glu778Asp) c.2133+171G>C (n.2133+171G>C) c.1680-6032G>C (n.1680-6032G>C) c.2430G>C (p.Glu810Asp) c.2496G>C (p.Glu832Asp) c.2493G>C (p.Glu831Asp) c.2466G>C (p.Glu822Asp) c.2412G>C (p.Glu804Asp) c.2385G>C (p.Glu795Asp) c.2370G>C (p.Glu790Asp) c.1977G>C (p.Glu659Asp) c.2439G>C (p.Glu813Asp) c.2376G>C (p.Glu792Asp) c.2373G>C (p.Glu791Asp) c.2331G>C (p.Glu777Asp) c.1404G>C (p.Glu468Asp) | |
20 | g.63406875C>T | CA9958082 | KCNQ2 | c.2442G>A (p.Glu814=) c.2388G>A (p.Glu796=) c.1785G>A (p.Glu595=) c.2295G>A (p.Glu765=) c.1956G>A (p.Glu652=) c.2304G>A (p.Glu768=) c.2241+171G>A (n.2241+171G>A) c.2205+171G>A (n.2205+171G>A) c.2334G>A (p.Glu778=) c.2133+171G>A (n.2133+171G>A) c.1680-6032G>A (n.1680-6032G>A) c.2430G>A (p.Glu810=) c.2496G>A (p.Glu832=) c.2493G>A (p.Glu831=) c.2466G>A (p.Glu822=) c.2412G>A (p.Glu804=) c.2385G>A (p.Glu795=) c.2370G>A (p.Glu790=) c.1977G>A (p.Glu659=) c.2439G>A (p.Glu813=) c.2376G>A (p.Glu792=) c.2373G>A (p.Glu791=) c.2331G>A (p.Glu777=) c.1404G>A (p.Glu468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406876T>A | CA409637340 | KCNQ2 | c.2441A>T (p.Glu814Val) c.2387A>T (p.Glu796Val) c.1784A>T (p.Glu595Val) c.2294A>T (p.Glu765Val) c.1955A>T (p.Glu652Val) c.2303A>T (p.Glu768Val) c.2241+170A>T (n.2241+170A>T) c.2205+170A>T (n.2205+170A>T) c.2333A>T (p.Glu778Val) c.2133+170A>T (n.2133+170A>T) c.1680-6033A>T (n.1680-6033A>T) c.2429A>T (p.Glu810Val) c.2495A>T (p.Glu832Val) c.2492A>T (p.Glu831Val) c.2465A>T (p.Glu822Val) c.2411A>T (p.Glu804Val) c.2384A>T (p.Glu795Val) c.2369A>T (p.Glu790Val) c.1976A>T (p.Glu659Val) c.2438A>T (p.Glu813Val) c.2375A>T (p.Glu792Val) c.2372A>T (p.Glu791Val) c.2330A>T (p.Glu777Val) c.1403A>T (p.Glu468Val) | |
20 | g.63406876T>C | CA409637343 | KCNQ2 | c.2441A>G (p.Glu814Gly) c.2387A>G (p.Glu796Gly) c.1784A>G (p.Glu595Gly) c.2294A>G (p.Glu765Gly) c.1955A>G (p.Glu652Gly) c.2303A>G (p.Glu768Gly) c.2241+170A>G (n.2241+170A>G) c.2205+170A>G (n.2205+170A>G) c.2333A>G (p.Glu778Gly) c.2133+170A>G (n.2133+170A>G) c.1680-6033A>G (n.1680-6033A>G) c.2429A>G (p.Glu810Gly) c.2495A>G (p.Glu832Gly) c.2492A>G (p.Glu831Gly) c.2465A>G (p.Glu822Gly) c.2411A>G (p.Glu804Gly) c.2384A>G (p.Glu795Gly) c.2369A>G (p.Glu790Gly) c.1976A>G (p.Glu659Gly) c.2438A>G (p.Glu813Gly) c.2375A>G (p.Glu792Gly) c.2372A>G (p.Glu791Gly) c.2330A>G (p.Glu777Gly) c.1403A>G (p.Glu468Gly) | |
20 | g.63406876T>G | CA409637344 | KCNQ2 | c.2441A>C (p.Glu814Ala) c.2387A>C (p.Glu796Ala) c.1784A>C (p.Glu595Ala) c.2294A>C (p.Glu765Ala) c.1955A>C (p.Glu652Ala) c.2303A>C (p.Glu768Ala) c.2241+170A>C (n.2241+170A>C) c.2205+170A>C (n.2205+170A>C) c.2333A>C (p.Glu778Ala) c.2133+170A>C (n.2133+170A>C) c.1680-6033A>C (n.1680-6033A>C) c.2429A>C (p.Glu810Ala) c.2495A>C (p.Glu832Ala) c.2492A>C (p.Glu831Ala) c.2465A>C (p.Glu822Ala) c.2411A>C (p.Glu804Ala) c.2384A>C (p.Glu795Ala) c.2369A>C (p.Glu790Ala) c.1976A>C (p.Glu659Ala) c.2438A>C (p.Glu813Ala) c.2375A>C (p.Glu792Ala) c.2372A>C (p.Glu791Ala) c.2330A>C (p.Glu777Ala) c.1403A>C (p.Glu468Ala) | |
20 | g.63406877C>A | CA409637348 | KCNQ2 | c.2440G>T (p.Glu814Ter) c.2386G>T (p.Glu796Ter) c.1783G>T (p.Glu595Ter) c.2293G>T (p.Glu765Ter) c.1954G>T (p.Glu652Ter) c.2302G>T (p.Glu768Ter) c.2241+169G>T (n.2241+169G>T) c.2205+169G>T (n.2205+169G>T) c.2332G>T (p.Glu778Ter) c.2133+169G>T (n.2133+169G>T) c.1680-6034G>T (n.1680-6034G>T) c.2428G>T (p.Glu810Ter) c.2494G>T (p.Glu832Ter) c.2491G>T (p.Glu831Ter) c.2464G>T (p.Glu822Ter) c.2410G>T (p.Glu804Ter) c.2383G>T (p.Glu795Ter) c.2368G>T (p.Glu790Ter) c.1975G>T (p.Glu659Ter) c.2437G>T (p.Glu813Ter) c.2374G>T (p.Glu792Ter) c.2371G>T (p.Glu791Ter) c.2329G>T (p.Glu777Ter) c.1402G>T (p.Glu468Ter) | |
20 | g.63406877C= | CA2374774283 | KCNQ2 | c.2440G= (p.Glu814=) c.2386G= (p.Glu796=) c.1783G= (p.Glu595=) c.2293G= (p.Glu765=) c.1954G= (p.Glu652=) c.2302G= (p.Glu768=) c.2241+169G= (n.2241+169G=) c.2205+169G= (n.2205+169G=) c.2332G= (p.Glu778=) c.2133+169G= (n.2133+169G=) c.1680-6034G= (n.1680-6034G=) c.2428G= (p.Glu810=) c.2494G= (p.Glu832=) c.2491G= (p.Glu831=) c.2464G= (p.Glu822=) c.2410G= (p.Glu804=) c.2383G= (p.Glu795=) c.2368G= (p.Glu790=) c.1975G= (p.Glu659=) c.2437G= (p.Glu813=) c.2374G= (p.Glu792=) c.2371G= (p.Glu791=) c.2329G= (p.Glu777=) c.1402G= (p.Glu468=) | |
20 | g.63406877C>G | CA409637350 | KCNQ2 | c.2440G>C (p.Glu814Gln) c.2386G>C (p.Glu796Gln) c.1783G>C (p.Glu595Gln) c.2293G>C (p.Glu765Gln) c.1954G>C (p.Glu652Gln) c.2302G>C (p.Glu768Gln) c.2241+169G>C (n.2241+169G>C) c.2205+169G>C (n.2205+169G>C) c.2332G>C (p.Glu778Gln) c.2133+169G>C (n.2133+169G>C) c.1680-6034G>C (n.1680-6034G>C) c.2428G>C (p.Glu810Gln) c.2494G>C (p.Glu832Gln) c.2491G>C (p.Glu831Gln) c.2464G>C (p.Glu822Gln) c.2410G>C (p.Glu804Gln) c.2383G>C (p.Glu795Gln) c.2368G>C (p.Glu790Gln) c.1975G>C (p.Glu659Gln) c.2437G>C (p.Glu813Gln) c.2374G>C (p.Glu792Gln) c.2371G>C (p.Glu791Gln) c.2329G>C (p.Glu777Gln) c.1402G>C (p.Glu468Gln) | |
20 | g.63406877C>T | CA409637353 | KCNQ2 | c.2440G>A (p.Glu814Lys) c.2386G>A (p.Glu796Lys) c.1783G>A (p.Glu595Lys) c.2293G>A (p.Glu765Lys) c.1954G>A (p.Glu652Lys) c.2302G>A (p.Glu768Lys) c.2241+169G>A (n.2241+169G>A) c.2205+169G>A (n.2205+169G>A) c.2332G>A (p.Glu778Lys) c.2133+169G>A (n.2133+169G>A) c.1680-6034G>A (n.1680-6034G>A) c.2428G>A (p.Glu810Lys) c.2494G>A (p.Glu832Lys) c.2491G>A (p.Glu831Lys) c.2464G>A (p.Glu822Lys) c.2410G>A (p.Glu804Lys) c.2383G>A (p.Glu795Lys) c.2368G>A (p.Glu790Lys) c.1975G>A (p.Glu659Lys) c.2437G>A (p.Glu813Lys) c.2374G>A (p.Glu792Lys) c.2371G>A (p.Glu791Lys) c.2329G>A (p.Glu777Lys) c.1402G>A (p.Glu468Lys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406878G>A | CA291812 | KCNQ2 | c.2439C>T (p.His813=) c.2385C>T (p.His795=) c.1782C>T (p.His594=) c.2292C>T (p.His764=) c.1953C>T (p.His651=) c.2301C>T (p.His767=) c.2241+168C>T (n.2241+168C>T) c.2205+168C>T (n.2205+168C>T) c.2331C>T (p.His777=) c.2133+168C>T (n.2133+168C>T) c.1680-6035C>T (n.1680-6035C>T) c.2427C>T (p.His809=) c.2493C>T (p.His831=) c.2490C>T (p.His830=) c.2463C>T (p.His821=) c.2409C>T (p.His803=) c.2382C>T (p.His794=) c.2367C>T (p.His789=) c.1974C>T (p.His658=) c.2436C>T (p.His812=) c.2373C>T (p.His791=) c.2370C>T (p.His790=) c.2328C>T (p.His776=) c.1401C>T (p.His467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406878G>C | CA409637361 | KCNQ2 | c.2439C>G (p.His813Gln) c.2385C>G (p.His795Gln) c.1782C>G (p.His594Gln) c.2292C>G (p.His764Gln) c.1953C>G (p.His651Gln) c.2301C>G (p.His767Gln) c.2241+168C>G (n.2241+168C>G) c.2205+168C>G (n.2205+168C>G) c.2331C>G (p.His777Gln) c.2133+168C>G (n.2133+168C>G) c.1680-6035C>G (n.1680-6035C>G) c.2427C>G (p.His809Gln) c.2493C>G (p.His831Gln) c.2490C>G (p.His830Gln) c.2463C>G (p.His821Gln) c.2409C>G (p.His803Gln) c.2382C>G (p.His794Gln) c.2367C>G (p.His789Gln) c.1974C>G (p.His658Gln) c.2436C>G (p.His812Gln) c.2373C>G (p.His791Gln) c.2370C>G (p.His790Gln) c.2328C>G (p.His776Gln) c.1401C>G (p.His467Gln) | |
20 | g.63406878G= | CA2374774284 | KCNQ2 | c.2439C= (p.His813=) c.2385C= (p.His795=) c.1782C= (p.His594=) c.2292C= (p.His764=) c.1953C= (p.His651=) c.2301C= (p.His767=) c.2241+168C= (n.2241+168C=) c.2205+168C= (n.2205+168C=) c.2331C= (p.His777=) c.2133+168C= (n.2133+168C=) c.1680-6035C= (n.1680-6035C=) c.2427C= (p.His809=) c.2493C= (p.His831=) c.2490C= (p.His830=) c.2463C= (p.His821=) c.2409C= (p.His803=) c.2382C= (p.His794=) c.2367C= (p.His789=) c.1974C= (p.His658=) c.2436C= (p.His812=) c.2373C= (p.His791=) c.2370C= (p.His790=) c.2328C= (p.His776=) c.1401C= (p.His467=) | |
20 | g.63406878G>T | CA409637358 | KCNQ2 | c.2439C>A (p.His813Gln) c.2385C>A (p.His795Gln) c.1782C>A (p.His594Gln) c.2292C>A (p.His764Gln) c.1953C>A (p.His651Gln) c.2301C>A (p.His767Gln) c.2241+168C>A (n.2241+168C>A) c.2205+168C>A (n.2205+168C>A) c.2331C>A (p.His777Gln) c.2133+168C>A (n.2133+168C>A) c.1680-6035C>A (n.1680-6035C>A) c.2427C>A (p.His809Gln) c.2493C>A (p.His831Gln) c.2490C>A (p.His830Gln) c.2463C>A (p.His821Gln) c.2409C>A (p.His803Gln) c.2382C>A (p.His794Gln) c.2367C>A (p.His789Gln) c.1974C>A (p.His658Gln) c.2436C>A (p.His812Gln) c.2373C>A (p.His791Gln) c.2370C>A (p.His790Gln) c.2328C>A (p.His776Gln) c.1401C>A (p.His467Gln) | |
20 | g.63406879T>A | CA409637363 | KCNQ2 | c.2438A>T (p.His813Leu) c.2384A>T (p.His795Leu) c.1781A>T (p.His594Leu) c.2291A>T (p.His764Leu) c.1952A>T (p.His651Leu) c.2300A>T (p.His767Leu) c.2241+167A>T (n.2241+167A>T) c.2205+167A>T (n.2205+167A>T) c.2330A>T (p.His777Leu) c.2133+167A>T (n.2133+167A>T) c.1680-6036A>T (n.1680-6036A>T) c.2426A>T (p.His809Leu) c.2492A>T (p.His831Leu) c.2489A>T (p.His830Leu) c.2462A>T (p.His821Leu) c.2408A>T (p.His803Leu) c.2381A>T (p.His794Leu) c.2366A>T (p.His789Leu) c.1973A>T (p.His658Leu) c.2435A>T (p.His812Leu) c.2372A>T (p.His791Leu) c.2369A>T (p.His790Leu) c.2327A>T (p.His776Leu) c.1400A>T (p.His467Leu) | |
20 | g.63406879T>C | CA409637367 | KCNQ2 | c.2438A>G (p.His813Arg) c.2384A>G (p.His795Arg) c.1781A>G (p.His594Arg) c.2291A>G (p.His764Arg) c.1952A>G (p.His651Arg) c.2300A>G (p.His767Arg) c.2241+167A>G (n.2241+167A>G) c.2205+167A>G (n.2205+167A>G) c.2330A>G (p.His777Arg) c.2133+167A>G (n.2133+167A>G) c.1680-6036A>G (n.1680-6036A>G) c.2426A>G (p.His809Arg) c.2492A>G (p.His831Arg) c.2489A>G (p.His830Arg) c.2462A>G (p.His821Arg) c.2408A>G (p.His803Arg) c.2381A>G (p.His794Arg) c.2366A>G (p.His789Arg) c.1973A>G (p.His658Arg) c.2435A>G (p.His812Arg) c.2372A>G (p.His791Arg) c.2369A>G (p.His790Arg) c.2327A>G (p.His776Arg) c.1400A>G (p.His467Arg) | |
20 | g.63406879T>G | CA409637370 | KCNQ2 | c.2438A>C (p.His813Pro) c.2384A>C (p.His795Pro) c.1781A>C (p.His594Pro) c.2291A>C (p.His764Pro) c.1952A>C (p.His651Pro) c.2300A>C (p.His767Pro) c.2241+167A>C (n.2241+167A>C) c.2205+167A>C (n.2205+167A>C) c.2330A>C (p.His777Pro) c.2133+167A>C (n.2133+167A>C) c.1680-6036A>C (n.1680-6036A>C) c.2426A>C (p.His809Pro) c.2492A>C (p.His831Pro) c.2489A>C (p.His830Pro) c.2462A>C (p.His821Pro) c.2408A>C (p.His803Pro) c.2381A>C (p.His794Pro) c.2366A>C (p.His789Pro) c.1973A>C (p.His658Pro) c.2435A>C (p.His812Pro) c.2372A>C (p.His791Pro) c.2369A>C (p.His790Pro) c.2327A>C (p.His776Pro) c.1400A>C (p.His467Pro) | |
20 | g.63406880G>A | CA409637374 | KCNQ2 | c.2437C>T (p.His813Tyr) c.2383C>T (p.His795Tyr) c.1780C>T (p.His594Tyr) c.2290C>T (p.His764Tyr) c.1951C>T (p.His651Tyr) c.2299C>T (p.His767Tyr) c.2241+166C>T (n.2241+166C>T) c.2205+166C>T (n.2205+166C>T) c.2329C>T (p.His777Tyr) c.2133+166C>T (n.2133+166C>T) c.1680-6037C>T (n.1680-6037C>T) c.2425C>T (p.His809Tyr) c.2491C>T (p.His831Tyr) c.2488C>T (p.His830Tyr) c.2461C>T (p.His821Tyr) c.2407C>T (p.His803Tyr) c.2380C>T (p.His794Tyr) c.2365C>T (p.His789Tyr) c.1972C>T (p.His658Tyr) c.2434C>T (p.His812Tyr) c.2371C>T (p.His791Tyr) c.2368C>T (p.His790Tyr) c.2326C>T (p.His776Tyr) c.1399C>T (p.His467Tyr) | |
20 | g.63406880G>C | CA409637375 | KCNQ2 | c.2437C>G (p.His813Asp) c.2383C>G (p.His795Asp) c.1780C>G (p.His594Asp) c.2290C>G (p.His764Asp) c.1951C>G (p.His651Asp) c.2299C>G (p.His767Asp) c.2241+166C>G (n.2241+166C>G) c.2205+166C>G (n.2205+166C>G) c.2329C>G (p.His777Asp) c.2133+166C>G (n.2133+166C>G) c.1680-6037C>G (n.1680-6037C>G) c.2425C>G (p.His809Asp) c.2491C>G (p.His831Asp) c.2488C>G (p.His830Asp) c.2461C>G (p.His821Asp) c.2407C>G (p.His803Asp) c.2380C>G (p.His794Asp) c.2365C>G (p.His789Asp) c.1972C>G (p.His658Asp) c.2434C>G (p.His812Asp) c.2371C>G (p.His791Asp) c.2368C>G (p.His790Asp) c.2326C>G (p.His776Asp) c.1399C>G (p.His467Asp) | |
20 | g.63406880G= | CA2374774285 | KCNQ2 | c.2437C= (p.His813=) c.2383C= (p.His795=) c.1780C= (p.His594=) c.2290C= (p.His764=) c.1951C= (p.His651=) c.2299C= (p.His767=) c.2241+166C= (n.2241+166C=) c.2205+166C= (n.2205+166C=) c.2329C= (p.His777=) c.2133+166C= (n.2133+166C=) c.1680-6037C= (n.1680-6037C=) c.2425C= (p.His809=) c.2491C= (p.His831=) c.2488C= (p.His830=) c.2461C= (p.His821=) c.2407C= (p.His803=) c.2380C= (p.His794=) c.2365C= (p.His789=) c.1972C= (p.His658=) c.2434C= (p.His812=) c.2371C= (p.His791=) c.2368C= (p.His790=) c.2326C= (p.His776=) c.1399C= (p.His467=) | |
20 | g.63406880G>T | CA409637377 | KCNQ2 | c.2437C>A (p.His813Asn) c.2383C>A (p.His795Asn) c.1780C>A (p.His594Asn) c.2290C>A (p.His764Asn) c.1951C>A (p.His651Asn) c.2299C>A (p.His767Asn) c.2241+166C>A (n.2241+166C>A) c.2205+166C>A (n.2205+166C>A) c.2329C>A (p.His777Asn) c.2133+166C>A (n.2133+166C>A) c.1680-6037C>A (n.1680-6037C>A) c.2425C>A (p.His809Asn) c.2491C>A (p.His831Asn) c.2488C>A (p.His830Asn) c.2461C>A (p.His821Asn) c.2407C>A (p.His803Asn) c.2380C>A (p.His794Asn) c.2365C>A (p.His789Asn) c.1972C>A (p.His658Asn) c.2434C>A (p.His812Asn) c.2371C>A (p.His791Asn) c.2368C>A (p.His790Asn) c.2326C>A (p.His776Asn) c.1399C>A (p.His467Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406881G>A | CA511339236 | KCNQ2 | c.2436C>T (p.Asp812=) c.2382C>T (p.Asp794=) c.1779C>T (p.Asp593=) c.2289C>T (p.Asp763=) c.1950C>T (p.Asp650=) c.2298C>T (p.Asp766=) c.2241+165C>T (n.2241+165C>T) c.2205+165C>T (n.2205+165C>T) c.2328C>T (p.Asp776=) c.2133+165C>T (n.2133+165C>T) c.1680-6038C>T (n.1680-6038C>T) c.2424C>T (p.Asp808=) c.2490C>T (p.Asp830=) c.2487C>T (p.Asp829=) c.2460C>T (p.Asp820=) c.2406C>T (p.Asp802=) c.2379C>T (p.Asp793=) c.2364C>T (p.Asp788=) c.1971C>T (p.Asp657=) c.2433C>T (p.Asp811=) c.2370C>T (p.Asp790=) c.2367C>T (p.Asp789=) c.2325C>T (p.Asp775=) c.1398C>T (p.Asp466=) | |
20 | g.63406881G>C | CA409637380 | KCNQ2 | c.2436C>G (p.Asp812Glu) c.2382C>G (p.Asp794Glu) c.1779C>G (p.Asp593Glu) c.2289C>G (p.Asp763Glu) c.1950C>G (p.Asp650Glu) c.2298C>G (p.Asp766Glu) c.2241+165C>G (n.2241+165C>G) c.2205+165C>G (n.2205+165C>G) c.2328C>G (p.Asp776Glu) c.2133+165C>G (n.2133+165C>G) c.1680-6038C>G (n.1680-6038C>G) c.2424C>G (p.Asp808Glu) c.2490C>G (p.Asp830Glu) c.2487C>G (p.Asp829Glu) c.2460C>G (p.Asp820Glu) c.2406C>G (p.Asp802Glu) c.2379C>G (p.Asp793Glu) c.2364C>G (p.Asp788Glu) c.1971C>G (p.Asp657Glu) c.2433C>G (p.Asp811Glu) c.2370C>G (p.Asp790Glu) c.2367C>G (p.Asp789Glu) c.2325C>G (p.Asp775Glu) c.1398C>G (p.Asp466Glu) | |
20 | g.63406881G>T | CA409637383 | KCNQ2 | c.2436C>A (p.Asp812Glu) c.2382C>A (p.Asp794Glu) c.1779C>A (p.Asp593Glu) c.2289C>A (p.Asp763Glu) c.1950C>A (p.Asp650Glu) c.2298C>A (p.Asp766Glu) c.2241+165C>A (n.2241+165C>A) c.2205+165C>A (n.2205+165C>A) c.2328C>A (p.Asp776Glu) c.2133+165C>A (n.2133+165C>A) c.1680-6038C>A (n.1680-6038C>A) c.2424C>A (p.Asp808Glu) c.2490C>A (p.Asp830Glu) c.2487C>A (p.Asp829Glu) c.2460C>A (p.Asp820Glu) c.2406C>A (p.Asp802Glu) c.2379C>A (p.Asp793Glu) c.2364C>A (p.Asp788Glu) c.1971C>A (p.Asp657Glu) c.2433C>A (p.Asp811Glu) c.2370C>A (p.Asp790Glu) c.2367C>A (p.Asp789Glu) c.2325C>A (p.Asp775Glu) c.1398C>A (p.Asp466Glu) | |
20 | g.63406882T>A | CA409637385 | KCNQ2 | c.2435A>T (p.Asp812Val) c.2381A>T (p.Asp794Val) c.1778A>T (p.Asp593Val) c.2288A>T (p.Asp763Val) c.1949A>T (p.Asp650Val) c.2297A>T (p.Asp766Val) c.2241+164A>T (n.2241+164A>T) c.2205+164A>T (n.2205+164A>T) c.2327A>T (p.Asp776Val) c.2133+164A>T (n.2133+164A>T) c.1680-6039A>T (n.1680-6039A>T) c.2423A>T (p.Asp808Val) c.2489A>T (p.Asp830Val) c.2486A>T (p.Asp829Val) c.2459A>T (p.Asp820Val) c.2405A>T (p.Asp802Val) c.2378A>T (p.Asp793Val) c.2363A>T (p.Asp788Val) c.1970A>T (p.Asp657Val) c.2432A>T (p.Asp811Val) c.2369A>T (p.Asp790Val) c.2366A>T (p.Asp789Val) c.2324A>T (p.Asp775Val) c.1397A>T (p.Asp466Val) | |
20 | g.63406882T>C | CA409637386 | KCNQ2 | c.2435A>G (p.Asp812Gly) c.2381A>G (p.Asp794Gly) c.1778A>G (p.Asp593Gly) c.2288A>G (p.Asp763Gly) c.1949A>G (p.Asp650Gly) c.2297A>G (p.Asp766Gly) c.2241+164A>G (n.2241+164A>G) c.2205+164A>G (n.2205+164A>G) c.2327A>G (p.Asp776Gly) c.2133+164A>G (n.2133+164A>G) c.1680-6039A>G (n.1680-6039A>G) c.2423A>G (p.Asp808Gly) c.2489A>G (p.Asp830Gly) c.2486A>G (p.Asp829Gly) c.2459A>G (p.Asp820Gly) c.2405A>G (p.Asp802Gly) c.2378A>G (p.Asp793Gly) c.2363A>G (p.Asp788Gly) c.1970A>G (p.Asp657Gly) c.2432A>G (p.Asp811Gly) c.2369A>G (p.Asp790Gly) c.2366A>G (p.Asp789Gly) c.2324A>G (p.Asp775Gly) c.1397A>G (p.Asp466Gly) | |
20 | g.63406882T>G | CA409637388 | KCNQ2 | c.2435A>C (p.Asp812Ala) c.2381A>C (p.Asp794Ala) c.1778A>C (p.Asp593Ala) c.2288A>C (p.Asp763Ala) c.1949A>C (p.Asp650Ala) c.2297A>C (p.Asp766Ala) c.2241+164A>C (n.2241+164A>C) c.2205+164A>C (n.2205+164A>C) c.2327A>C (p.Asp776Ala) c.2133+164A>C (n.2133+164A>C) c.1680-6039A>C (n.1680-6039A>C) c.2423A>C (p.Asp808Ala) c.2489A>C (p.Asp830Ala) c.2486A>C (p.Asp829Ala) c.2459A>C (p.Asp820Ala) c.2405A>C (p.Asp802Ala) c.2378A>C (p.Asp793Ala) c.2363A>C (p.Asp788Ala) c.1970A>C (p.Asp657Ala) c.2432A>C (p.Asp811Ala) c.2369A>C (p.Asp790Ala) c.2366A>C (p.Asp789Ala) c.2324A>C (p.Asp775Ala) c.1397A>C (p.Asp466Ala) | |
20 | g.63406883C>A | CA409637391 | KCNQ2 | c.2434G>T (p.Asp812Tyr) c.2380G>T (p.Asp794Tyr) c.1777G>T (p.Asp593Tyr) c.2287G>T (p.Asp763Tyr) c.1948G>T (p.Asp650Tyr) c.2296G>T (p.Asp766Tyr) c.2241+163G>T (n.2241+163G>T) c.2205+163G>T (n.2205+163G>T) c.2326G>T (p.Asp776Tyr) c.2133+163G>T (n.2133+163G>T) c.1680-6040G>T (n.1680-6040G>T) c.2422G>T (p.Asp808Tyr) c.2488G>T (p.Asp830Tyr) c.2485G>T (p.Asp829Tyr) c.2458G>T (p.Asp820Tyr) c.2404G>T (p.Asp802Tyr) c.2377G>T (p.Asp793Tyr) c.2362G>T (p.Asp788Tyr) c.1969G>T (p.Asp657Tyr) c.2431G>T (p.Asp811Tyr) c.2368G>T (p.Asp790Tyr) c.2365G>T (p.Asp789Tyr) c.2323G>T (p.Asp775Tyr) c.1396G>T (p.Asp466Tyr) | |
20 | g.63406883C>G | CA409637397 | KCNQ2 | c.2434G>C (p.Asp812His) c.2380G>C (p.Asp794His) c.1777G>C (p.Asp593His) c.2287G>C (p.Asp763His) c.1948G>C (p.Asp650His) c.2296G>C (p.Asp766His) c.2241+163G>C (n.2241+163G>C) c.2205+163G>C (n.2205+163G>C) c.2326G>C (p.Asp776His) c.2133+163G>C (n.2133+163G>C) c.1680-6040G>C (n.1680-6040G>C) c.2422G>C (p.Asp808His) c.2488G>C (p.Asp830His) c.2485G>C (p.Asp829His) c.2458G>C (p.Asp820His) c.2404G>C (p.Asp802His) c.2377G>C (p.Asp793His) c.2362G>C (p.Asp788His) c.1969G>C (p.Asp657His) c.2431G>C (p.Asp811His) c.2368G>C (p.Asp790His) c.2365G>C (p.Asp789His) c.2323G>C (p.Asp775His) c.1396G>C (p.Asp466His) | |
20 | g.63406883C>T | CA409637394 | KCNQ2 | c.2434G>A (p.Asp812Asn) c.2380G>A (p.Asp794Asn) c.1777G>A (p.Asp593Asn) c.2287G>A (p.Asp763Asn) c.1948G>A (p.Asp650Asn) c.2296G>A (p.Asp766Asn) c.2241+163G>A (n.2241+163G>A) c.2205+163G>A (n.2205+163G>A) c.2326G>A (p.Asp776Asn) c.2133+163G>A (n.2133+163G>A) c.1680-6040G>A (n.1680-6040G>A) c.2422G>A (p.Asp808Asn) c.2488G>A (p.Asp830Asn) c.2485G>A (p.Asp829Asn) c.2458G>A (p.Asp820Asn) c.2404G>A (p.Asp802Asn) c.2377G>A (p.Asp793Asn) c.2362G>A (p.Asp788Asn) c.1969G>A (p.Asp657Asn) c.2431G>A (p.Asp811Asn) c.2368G>A (p.Asp790Asn) c.2365G>A (p.Asp789Asn) c.2323G>A (p.Asp775Asn) c.1396G>A (p.Asp466Asn) | |
20 | g.63406884C>A | CA511339239 | KCNQ2 | c.2433G>T (p.Val811=) c.2379G>T (p.Val793=) c.1776G>T (p.Val592=) c.2286G>T (p.Val762=) c.1947G>T (p.Val649=) c.2295G>T (p.Val765=) c.2241+162G>T (n.2241+162G>T) c.2205+162G>T (n.2205+162G>T) c.2325G>T (p.Val775=) c.2133+162G>T (n.2133+162G>T) c.1680-6041G>T (n.1680-6041G>T) c.2421G>T (p.Val807=) c.2487G>T (p.Val829=) c.2484G>T (p.Val828=) c.2457G>T (p.Val819=) c.2403G>T (p.Val801=) c.2376G>T (p.Val792=) c.2361G>T (p.Val787=) c.1968G>T (p.Val656=) c.2430G>T (p.Val810=) c.2367G>T (p.Val789=) c.2364G>T (p.Val788=) c.2322G>T (p.Val774=) c.1395G>T (p.Val465=) | gnomAD v4 |
20 | g.63406884C>G | CA511339241 | KCNQ2 | c.2433G>C (p.Val811=) c.2379G>C (p.Val793=) c.1776G>C (p.Val592=) c.2286G>C (p.Val762=) c.1947G>C (p.Val649=) c.2295G>C (p.Val765=) c.2241+162G>C (n.2241+162G>C) c.2205+162G>C (n.2205+162G>C) c.2325G>C (p.Val775=) c.2133+162G>C (n.2133+162G>C) c.1680-6041G>C (n.1680-6041G>C) c.2421G>C (p.Val807=) c.2487G>C (p.Val829=) c.2484G>C (p.Val828=) c.2457G>C (p.Val819=) c.2403G>C (p.Val801=) c.2376G>C (p.Val792=) c.2361G>C (p.Val787=) c.1968G>C (p.Val656=) c.2430G>C (p.Val810=) c.2367G>C (p.Val789=) c.2364G>C (p.Val788=) c.2322G>C (p.Val774=) c.1395G>C (p.Val465=) | |
20 | g.63406884C>T | CA511339240 | KCNQ2 | c.2433G>A (p.Val811=) c.2379G>A (p.Val793=) c.1776G>A (p.Val592=) c.2286G>A (p.Val762=) c.1947G>A (p.Val649=) c.2295G>A (p.Val765=) c.2241+162G>A (n.2241+162G>A) c.2205+162G>A (n.2205+162G>A) c.2325G>A (p.Val775=) c.2133+162G>A (n.2133+162G>A) c.1680-6041G>A (n.1680-6041G>A) c.2421G>A (p.Val807=) c.2487G>A (p.Val829=) c.2484G>A (p.Val828=) c.2457G>A (p.Val819=) c.2403G>A (p.Val801=) c.2376G>A (p.Val792=) c.2361G>A (p.Val787=) c.1968G>A (p.Val656=) c.2430G>A (p.Val810=) c.2367G>A (p.Val789=) c.2364G>A (p.Val788=) c.2322G>A (p.Val774=) c.1395G>A (p.Val465=) | gnomAD v4 |
20 | g.63406885A>C | CA409637399 | KCNQ2 | c.2432T>G (p.Val811Gly) c.2378T>G (p.Val793Gly) c.1775T>G (p.Val592Gly) c.2285T>G (p.Val762Gly) c.1946T>G (p.Val649Gly) c.2294T>G (p.Val765Gly) c.2241+161T>G (n.2241+161T>G) c.2205+161T>G (n.2205+161T>G) c.2324T>G (p.Val775Gly) c.2133+161T>G (n.2133+161T>G) c.1680-6042T>G (n.1680-6042T>G) c.2420T>G (p.Val807Gly) c.2486T>G (p.Val829Gly) c.2483T>G (p.Val828Gly) c.2456T>G (p.Val819Gly) c.2402T>G (p.Val801Gly) c.2375T>G (p.Val792Gly) c.2360T>G (p.Val787Gly) c.1967T>G (p.Val656Gly) c.2429T>G (p.Val810Gly) c.2366T>G (p.Val789Gly) c.2363T>G (p.Val788Gly) c.2321T>G (p.Val774Gly) c.1394T>G (p.Val465Gly) | |
20 | g.63406885A>G | CA409637405 | KCNQ2 | c.2432T>C (p.Val811Ala) c.2378T>C (p.Val793Ala) c.1775T>C (p.Val592Ala) c.2285T>C (p.Val762Ala) c.1946T>C (p.Val649Ala) c.2294T>C (p.Val765Ala) c.2241+161T>C (n.2241+161T>C) c.2205+161T>C (n.2205+161T>C) c.2324T>C (p.Val775Ala) c.2133+161T>C (n.2133+161T>C) c.1680-6042T>C (n.1680-6042T>C) c.2420T>C (p.Val807Ala) c.2486T>C (p.Val829Ala) c.2483T>C (p.Val828Ala) c.2456T>C (p.Val819Ala) c.2402T>C (p.Val801Ala) c.2375T>C (p.Val792Ala) c.2360T>C (p.Val787Ala) c.1967T>C (p.Val656Ala) c.2429T>C (p.Val810Ala) c.2366T>C (p.Val789Ala) c.2363T>C (p.Val788Ala) c.2321T>C (p.Val774Ala) c.1394T>C (p.Val465Ala) | |
20 | g.63406885A>T | CA409637403 | KCNQ2 | c.2432T>A (p.Val811Glu) c.2378T>A (p.Val793Glu) c.1775T>A (p.Val592Glu) c.2285T>A (p.Val762Glu) c.1946T>A (p.Val649Glu) c.2294T>A (p.Val765Glu) c.2241+161T>A (n.2241+161T>A) c.2205+161T>A (n.2205+161T>A) c.2324T>A (p.Val775Glu) c.2133+161T>A (n.2133+161T>A) c.1680-6042T>A (n.1680-6042T>A) c.2420T>A (p.Val807Glu) c.2486T>A (p.Val829Glu) c.2483T>A (p.Val828Glu) c.2456T>A (p.Val819Glu) c.2402T>A (p.Val801Glu) c.2375T>A (p.Val792Glu) c.2360T>A (p.Val787Glu) c.1967T>A (p.Val656Glu) c.2429T>A (p.Val810Glu) c.2366T>A (p.Val789Glu) c.2363T>A (p.Val788Glu) c.2321T>A (p.Val774Glu) c.1394T>A (p.Val465Glu) | |
20 | g.63406886C>A | CA9958084 | KCNQ2 | c.2431G>T (p.Val811Leu) c.2377G>T (p.Val793Leu) c.1774G>T (p.Val592Leu) c.2284G>T (p.Val762Leu) c.1945G>T (p.Val649Leu) c.2293G>T (p.Val765Leu) c.2241+160G>T (n.2241+160G>T) c.2205+160G>T (n.2205+160G>T) c.2323G>T (p.Val775Leu) c.2133+160G>T (n.2133+160G>T) c.1680-6043G>T (n.1680-6043G>T) c.2419G>T (p.Val807Leu) c.2485G>T (p.Val829Leu) c.2482G>T (p.Val828Leu) c.2455G>T (p.Val819Leu) c.2401G>T (p.Val801Leu) c.2374G>T (p.Val792Leu) c.2359G>T (p.Val787Leu) c.1966G>T (p.Val656Leu) c.2428G>T (p.Val810Leu) c.2365G>T (p.Val789Leu) c.2362G>T (p.Val788Leu) c.2320G>T (p.Val774Leu) c.1393G>T (p.Val465Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406886C= | CA2374774286 | KCNQ2 | c.2431G= (p.Val811=) c.2377G= (p.Val793=) c.1774G= (p.Val592=) c.2284G= (p.Val762=) c.1945G= (p.Val649=) c.2293G= (p.Val765=) c.2241+160G= (n.2241+160G=) c.2205+160G= (n.2205+160G=) c.2323G= (p.Val775=) c.2133+160G= (n.2133+160G=) c.1680-6043G= (n.1680-6043G=) c.2419G= (p.Val807=) c.2485G= (p.Val829=) c.2482G= (p.Val828=) c.2455G= (p.Val819=) c.2401G= (p.Val801=) c.2374G= (p.Val792=) c.2359G= (p.Val787=) c.1966G= (p.Val656=) c.2428G= (p.Val810=) c.2365G= (p.Val789=) c.2362G= (p.Val788=) c.2320G= (p.Val774=) c.1393G= (p.Val465=) | |
20 | g.63406886C>G | CA409637410 | KCNQ2 | c.2431G>C (p.Val811Leu) c.2377G>C (p.Val793Leu) c.1774G>C (p.Val592Leu) c.2284G>C (p.Val762Leu) c.1945G>C (p.Val649Leu) c.2293G>C (p.Val765Leu) c.2241+160G>C (n.2241+160G>C) c.2205+160G>C (n.2205+160G>C) c.2323G>C (p.Val775Leu) c.2133+160G>C (n.2133+160G>C) c.1680-6043G>C (n.1680-6043G>C) c.2419G>C (p.Val807Leu) c.2485G>C (p.Val829Leu) c.2482G>C (p.Val828Leu) c.2455G>C (p.Val819Leu) c.2401G>C (p.Val801Leu) c.2374G>C (p.Val792Leu) c.2359G>C (p.Val787Leu) c.1966G>C (p.Val656Leu) c.2428G>C (p.Val810Leu) c.2365G>C (p.Val789Leu) c.2362G>C (p.Val788Leu) c.2320G>C (p.Val774Leu) c.1393G>C (p.Val465Leu) | ClinVar dbSNP |
20 | g.63406886C>T | CA9958083 | KCNQ2 | c.2431G>A (p.Val811Met) c.2377G>A (p.Val793Met) c.1774G>A (p.Val592Met) c.2284G>A (p.Val762Met) c.1945G>A (p.Val649Met) c.2293G>A (p.Val765Met) c.2241+160G>A (n.2241+160G>A) c.2205+160G>A (n.2205+160G>A) c.2323G>A (p.Val775Met) c.2133+160G>A (n.2133+160G>A) c.1680-6043G>A (n.1680-6043G>A) c.2419G>A (p.Val807Met) c.2485G>A (p.Val829Met) c.2482G>A (p.Val828Met) c.2455G>A (p.Val819Met) c.2401G>A (p.Val801Met) c.2374G>A (p.Val792Met) c.2359G>A (p.Val787Met) c.1966G>A (p.Val656Met) c.2428G>A (p.Val810Met) c.2365G>A (p.Val789Met) c.2362G>A (p.Val788Met) c.2320G>A (p.Val774Met) c.1393G>A (p.Val465Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406889_63407267del | CA2739277253 | KCNQ2 | c.2053_2431del (p.Ala685TrpfsTer?) c.1999_2377del (p.Ala667TrpfsTer?) c.1396_1774del (p.Ala466TrpfsTer?) c.1906_2284del (p.Ala636TrpfsTer?) c.1567_1945del (p.Ala523TrpfsTer?) c.1915_2293del (p.Ala639TrpfsTer?) c.2023_2241+160del c.1987_2205+160del c.1945_2323del (p.Ala649TrpfsTer?) c.1915_2133+160del c.1679+6186_1680-6043del (n.1679+6186_1680-6043del) c.2041_2419del (p.Ala681TrpfsTer?) c.2107_2485del (p.Ala703TrpfsTer?) c.2104_2482del (p.Ala702TrpfsTer?) c.2077_2455del (p.Ala693TrpfsTer?) c.2023_2401del (p.Ala675TrpfsTer?) c.1996_2374del (p.Ala666TrpfsTer?) c.1981_2359del (p.Ala661TrpfsTer?) c.1588_1966del (p.Ala530TrpfsTer?) c.2050_2428del (p.Ala684TrpfsTer?) c.1987_2365del (p.Ala663TrpfsTer?) c.1984_2362del (p.Ala662TrpfsTer?) c.1942_2320del (p.Ala648TrpfsTer?) c.1015_1393del (p.Ala339TrpfsTer?) | ClinVar |
20 | g.63406887G>A | CA9958085 | KCNQ2 | c.2430C>T (p.Ser810=) c.2376C>T (p.Ser792=) c.1773C>T (p.Ser591=) c.2283C>T (p.Ser761=) c.1944C>T (p.Ser648=) c.2292C>T (p.Ser764=) c.2241+159C>T (n.2241+159C>T) c.2205+159C>T (n.2205+159C>T) c.2322C>T (p.Ser774=) c.2133+159C>T (n.2133+159C>T) c.1680-6044C>T (n.1680-6044C>T) c.2418C>T (p.Ser806=) c.2484C>T (p.Ser828=) c.2481C>T (p.Ser827=) c.2454C>T (p.Ser818=) c.2400C>T (p.Ser800=) c.2373C>T (p.Ser791=) c.2358C>T (p.Ser786=) c.1965C>T (p.Ser655=) c.2427C>T (p.Ser809=) c.2364C>T (p.Ser788=) c.2361C>T (p.Ser787=) c.2319C>T (p.Ser773=) c.1392C>T (p.Ser464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406887G>C | CA511339243 | KCNQ2 | c.2430C>G (p.Ser810=) c.2376C>G (p.Ser792=) c.1773C>G (p.Ser591=) c.2283C>G (p.Ser761=) c.1944C>G (p.Ser648=) c.2292C>G (p.Ser764=) c.2241+159C>G (n.2241+159C>G) c.2205+159C>G (n.2205+159C>G) c.2322C>G (p.Ser774=) c.2133+159C>G (n.2133+159C>G) c.1680-6044C>G (n.1680-6044C>G) c.2418C>G (p.Ser806=) c.2484C>G (p.Ser828=) c.2481C>G (p.Ser827=) c.2454C>G (p.Ser818=) c.2400C>G (p.Ser800=) c.2373C>G (p.Ser791=) c.2358C>G (p.Ser786=) c.1965C>G (p.Ser655=) c.2427C>G (p.Ser809=) c.2364C>G (p.Ser788=) c.2361C>G (p.Ser787=) c.2319C>G (p.Ser773=) c.1392C>G (p.Ser464=) | |
20 | g.63406887G= | CA2374774287 | KCNQ2 | c.2430C= (p.Ser810=) c.2376C= (p.Ser792=) c.1773C= (p.Ser591=) c.2283C= (p.Ser761=) c.1944C= (p.Ser648=) c.2292C= (p.Ser764=) c.2241+159C= (n.2241+159C=) c.2205+159C= (n.2205+159C=) c.2322C= (p.Ser774=) c.2133+159C= (n.2133+159C=) c.1680-6044C= (n.1680-6044C=) c.2418C= (p.Ser806=) c.2484C= (p.Ser828=) c.2481C= (p.Ser827=) c.2454C= (p.Ser818=) c.2400C= (p.Ser800=) c.2373C= (p.Ser791=) c.2358C= (p.Ser786=) c.1965C= (p.Ser655=) c.2427C= (p.Ser809=) c.2364C= (p.Ser788=) c.2361C= (p.Ser787=) c.2319C= (p.Ser773=) c.1392C= (p.Ser464=) | |
20 | g.63406887G>T | CA511339244 | KCNQ2 | c.2430C>A (p.Ser810=) c.2376C>A (p.Ser792=) c.1773C>A (p.Ser591=) c.2283C>A (p.Ser761=) c.1944C>A (p.Ser648=) c.2292C>A (p.Ser764=) c.2241+159C>A (n.2241+159C>A) c.2205+159C>A (n.2205+159C>A) c.2322C>A (p.Ser774=) c.2133+159C>A (n.2133+159C>A) c.1680-6044C>A (n.1680-6044C>A) c.2418C>A (p.Ser806=) c.2484C>A (p.Ser828=) c.2481C>A (p.Ser827=) c.2454C>A (p.Ser818=) c.2400C>A (p.Ser800=) c.2373C>A (p.Ser791=) c.2358C>A (p.Ser786=) c.1965C>A (p.Ser655=) c.2427C>A (p.Ser809=) c.2364C>A (p.Ser788=) c.2361C>A (p.Ser787=) c.2319C>A (p.Ser773=) c.1392C>A (p.Ser464=) | gnomAD v4 |
20 | g.63406888G>A | CA409637417 | KCNQ2 | c.2429C>T (p.Ser810Phe) c.2375C>T (p.Ser792Phe) c.1772C>T (p.Ser591Phe) c.2282C>T (p.Ser761Phe) c.1943C>T (p.Ser648Phe) c.2291C>T (p.Ser764Phe) c.2241+158C>T (n.2241+158C>T) c.2205+158C>T (n.2205+158C>T) c.2321C>T (p.Ser774Phe) c.2133+158C>T (n.2133+158C>T) c.1680-6045C>T (n.1680-6045C>T) c.2417C>T (p.Ser806Phe) c.2483C>T (p.Ser828Phe) c.2480C>T (p.Ser827Phe) c.2453C>T (p.Ser818Phe) c.2399C>T (p.Ser800Phe) c.2372C>T (p.Ser791Phe) c.2357C>T (p.Ser786Phe) c.1964C>T (p.Ser655Phe) c.2426C>T (p.Ser809Phe) c.2363C>T (p.Ser788Phe) c.2360C>T (p.Ser787Phe) c.2318C>T (p.Ser773Phe) c.1391C>T (p.Ser464Phe) | |
20 | g.63406888G>C | CA409637421 | KCNQ2 | c.2429C>G (p.Ser810Cys) c.2375C>G (p.Ser792Cys) c.1772C>G (p.Ser591Cys) c.2282C>G (p.Ser761Cys) c.1943C>G (p.Ser648Cys) c.2291C>G (p.Ser764Cys) c.2241+158C>G (n.2241+158C>G) c.2205+158C>G (n.2205+158C>G) c.2321C>G (p.Ser774Cys) c.2133+158C>G (n.2133+158C>G) c.1680-6045C>G (n.1680-6045C>G) c.2417C>G (p.Ser806Cys) c.2483C>G (p.Ser828Cys) c.2480C>G (p.Ser827Cys) c.2453C>G (p.Ser818Cys) c.2399C>G (p.Ser800Cys) c.2372C>G (p.Ser791Cys) c.2357C>G (p.Ser786Cys) c.1964C>G (p.Ser655Cys) c.2426C>G (p.Ser809Cys) c.2363C>G (p.Ser788Cys) c.2360C>G (p.Ser787Cys) c.2318C>G (p.Ser773Cys) c.1391C>G (p.Ser464Cys) | |
20 | g.63406888G>T | CA409637424 | KCNQ2 | c.2429C>A (p.Ser810Tyr) c.2375C>A (p.Ser792Tyr) c.1772C>A (p.Ser591Tyr) c.2282C>A (p.Ser761Tyr) c.1943C>A (p.Ser648Tyr) c.2291C>A (p.Ser764Tyr) c.2241+158C>A (n.2241+158C>A) c.2205+158C>A (n.2205+158C>A) c.2321C>A (p.Ser774Tyr) c.2133+158C>A (n.2133+158C>A) c.1680-6045C>A (n.1680-6045C>A) c.2417C>A (p.Ser806Tyr) c.2483C>A (p.Ser828Tyr) c.2480C>A (p.Ser827Tyr) c.2453C>A (p.Ser818Tyr) c.2399C>A (p.Ser800Tyr) c.2372C>A (p.Ser791Tyr) c.2357C>A (p.Ser786Tyr) c.1964C>A (p.Ser655Tyr) c.2426C>A (p.Ser809Tyr) c.2363C>A (p.Ser788Tyr) c.2360C>A (p.Ser787Tyr) c.2318C>A (p.Ser773Tyr) c.1391C>A (p.Ser464Tyr) | |
20 | g.63406889A>C | CA409637427 | KCNQ2 | c.2428T>G (p.Ser810Ala) c.2374T>G (p.Ser792Ala) c.1771T>G (p.Ser591Ala) c.2281T>G (p.Ser761Ala) c.1942T>G (p.Ser648Ala) c.2290T>G (p.Ser764Ala) c.2241+157T>G (n.2241+157T>G) c.2205+157T>G (n.2205+157T>G) c.2320T>G (p.Ser774Ala) c.2133+157T>G (n.2133+157T>G) c.1680-6046T>G (n.1680-6046T>G) c.2416T>G (p.Ser806Ala) c.2482T>G (p.Ser828Ala) c.2479T>G (p.Ser827Ala) c.2452T>G (p.Ser818Ala) c.2398T>G (p.Ser800Ala) c.2371T>G (p.Ser791Ala) c.2356T>G (p.Ser786Ala) c.1963T>G (p.Ser655Ala) c.2425T>G (p.Ser809Ala) c.2362T>G (p.Ser788Ala) c.2359T>G (p.Ser787Ala) c.2317T>G (p.Ser773Ala) c.1390T>G (p.Ser464Ala) | |
20 | g.63406889A>G | CA409637430 | KCNQ2 | c.2428T>C (p.Ser810Pro) c.2374T>C (p.Ser792Pro) c.1771T>C (p.Ser591Pro) c.2281T>C (p.Ser761Pro) c.1942T>C (p.Ser648Pro) c.2290T>C (p.Ser764Pro) c.2241+157T>C (n.2241+157T>C) c.2205+157T>C (n.2205+157T>C) c.2320T>C (p.Ser774Pro) c.2133+157T>C (n.2133+157T>C) c.1680-6046T>C (n.1680-6046T>C) c.2416T>C (p.Ser806Pro) c.2482T>C (p.Ser828Pro) c.2479T>C (p.Ser827Pro) c.2452T>C (p.Ser818Pro) c.2398T>C (p.Ser800Pro) c.2371T>C (p.Ser791Pro) c.2356T>C (p.Ser786Pro) c.1963T>C (p.Ser655Pro) c.2425T>C (p.Ser809Pro) c.2362T>C (p.Ser788Pro) c.2359T>C (p.Ser787Pro) c.2317T>C (p.Ser773Pro) c.1390T>C (p.Ser464Pro) | |
20 | g.63406889A>T | CA409637431 | KCNQ2 | c.2428T>A (p.Ser810Thr) c.2374T>A (p.Ser792Thr) c.1771T>A (p.Ser591Thr) c.2281T>A (p.Ser761Thr) c.1942T>A (p.Ser648Thr) c.2290T>A (p.Ser764Thr) c.2241+157T>A (n.2241+157T>A) c.2205+157T>A (n.2205+157T>A) c.2320T>A (p.Ser774Thr) c.2133+157T>A (n.2133+157T>A) c.1680-6046T>A (n.1680-6046T>A) c.2416T>A (p.Ser806Thr) c.2482T>A (p.Ser828Thr) c.2479T>A (p.Ser827Thr) c.2452T>A (p.Ser818Thr) c.2398T>A (p.Ser800Thr) c.2371T>A (p.Ser791Thr) c.2356T>A (p.Ser786Thr) c.1963T>A (p.Ser655Thr) c.2425T>A (p.Ser809Thr) c.2362T>A (p.Ser788Thr) c.2359T>A (p.Ser787Thr) c.2317T>A (p.Ser773Thr) c.1390T>A (p.Ser464Thr) | |
20 | g.63406890C>A | CA511339246 | KCNQ2 | c.2427G>T (p.Pro809=) c.2373G>T (p.Pro791=) c.1770G>T (p.Pro590=) c.2280G>T (p.Pro760=) c.1941G>T (p.Pro647=) c.2289G>T (p.Pro763=) c.2241+156G>T (n.2241+156G>T) c.2205+156G>T (n.2205+156G>T) c.2319G>T (p.Pro773=) c.2133+156G>T (n.2133+156G>T) c.1680-6047G>T (n.1680-6047G>T) c.2415G>T (p.Pro805=) c.2481G>T (p.Pro827=) c.2478G>T (p.Pro826=) c.2451G>T (p.Pro817=) c.2397G>T (p.Pro799=) c.2370G>T (p.Pro790=) c.2355G>T (p.Pro785=) c.1962G>T (p.Pro654=) c.2424G>T (p.Pro808=) c.2361G>T (p.Pro787=) c.2358G>T (p.Pro786=) c.2316G>T (p.Pro772=) c.1389G>T (p.Pro463=) | dbSNP |
20 | g.63406890C= | CA2374774288 | KCNQ2 | c.2427G= (p.Pro809=) c.2373G= (p.Pro791=) c.1770G= (p.Pro590=) c.2280G= (p.Pro760=) c.1941G= (p.Pro647=) c.2289G= (p.Pro763=) c.2241+156G= (n.2241+156G=) c.2205+156G= (n.2205+156G=) c.2319G= (p.Pro773=) c.2133+156G= (n.2133+156G=) c.1680-6047G= (n.1680-6047G=) c.2415G= (p.Pro805=) c.2481G= (p.Pro827=) c.2478G= (p.Pro826=) c.2451G= (p.Pro817=) c.2397G= (p.Pro799=) c.2370G= (p.Pro790=) c.2355G= (p.Pro785=) c.1962G= (p.Pro654=) c.2424G= (p.Pro808=) c.2361G= (p.Pro787=) c.2358G= (p.Pro786=) c.2316G= (p.Pro772=) c.1389G= (p.Pro463=) | |
20 | g.63406890C>G | CA511339247 | KCNQ2 | c.2427G>C (p.Pro809=) c.2373G>C (p.Pro791=) c.1770G>C (p.Pro590=) c.2280G>C (p.Pro760=) c.1941G>C (p.Pro647=) c.2289G>C (p.Pro763=) c.2241+156G>C (n.2241+156G>C) c.2205+156G>C (n.2205+156G>C) c.2319G>C (p.Pro773=) c.2133+156G>C (n.2133+156G>C) c.1680-6047G>C (n.1680-6047G>C) c.2415G>C (p.Pro805=) c.2481G>C (p.Pro827=) c.2478G>C (p.Pro826=) c.2451G>C (p.Pro817=) c.2397G>C (p.Pro799=) c.2370G>C (p.Pro790=) c.2355G>C (p.Pro785=) c.1962G>C (p.Pro654=) c.2424G>C (p.Pro808=) c.2361G>C (p.Pro787=) c.2358G>C (p.Pro786=) c.2316G>C (p.Pro772=) c.1389G>C (p.Pro463=) | |
20 | g.63406890C>T | CA9958086 | KCNQ2 | c.2427G>A (p.Pro809=) c.2373G>A (p.Pro791=) c.1770G>A (p.Pro590=) c.2280G>A (p.Pro760=) c.1941G>A (p.Pro647=) c.2289G>A (p.Pro763=) c.2241+156G>A (n.2241+156G>A) c.2205+156G>A (n.2205+156G>A) c.2319G>A (p.Pro773=) c.2133+156G>A (n.2133+156G>A) c.1680-6047G>A (n.1680-6047G>A) c.2415G>A (p.Pro805=) c.2481G>A (p.Pro827=) c.2478G>A (p.Pro826=) c.2451G>A (p.Pro817=) c.2397G>A (p.Pro799=) c.2370G>A (p.Pro790=) c.2355G>A (p.Pro785=) c.1962G>A (p.Pro654=) c.2424G>A (p.Pro808=) c.2361G>A (p.Pro787=) c.2358G>A (p.Pro786=) c.2316G>A (p.Pro772=) c.1389G>A (p.Pro463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406891G>A | CA409637442 | KCNQ2 | c.2426C>T (p.Pro809Leu) c.2372C>T (p.Pro791Leu) c.1769C>T (p.Pro590Leu) c.2279C>T (p.Pro760Leu) c.1940C>T (p.Pro647Leu) c.2288C>T (p.Pro763Leu) c.2241+155C>T (n.2241+155C>T) c.2205+155C>T (n.2205+155C>T) c.2318C>T (p.Pro773Leu) c.2133+155C>T (n.2133+155C>T) c.1680-6048C>T (n.1680-6048C>T) c.2414C>T (p.Pro805Leu) c.2480C>T (p.Pro827Leu) c.2477C>T (p.Pro826Leu) c.2450C>T (p.Pro817Leu) c.2396C>T (p.Pro799Leu) c.2369C>T (p.Pro790Leu) c.2354C>T (p.Pro785Leu) c.1961C>T (p.Pro654Leu) c.2423C>T (p.Pro808Leu) c.2360C>T (p.Pro787Leu) c.2357C>T (p.Pro786Leu) c.2315C>T (p.Pro772Leu) c.1388C>T (p.Pro463Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406891G>C | CA409637436 | KCNQ2 | c.2426C>G (p.Pro809Arg) c.2372C>G (p.Pro791Arg) c.1769C>G (p.Pro590Arg) c.2279C>G (p.Pro760Arg) c.1940C>G (p.Pro647Arg) c.2288C>G (p.Pro763Arg) c.2241+155C>G (n.2241+155C>G) c.2205+155C>G (n.2205+155C>G) c.2318C>G (p.Pro773Arg) c.2133+155C>G (n.2133+155C>G) c.1680-6048C>G (n.1680-6048C>G) c.2414C>G (p.Pro805Arg) c.2480C>G (p.Pro827Arg) c.2477C>G (p.Pro826Arg) c.2450C>G (p.Pro817Arg) c.2396C>G (p.Pro799Arg) c.2369C>G (p.Pro790Arg) c.2354C>G (p.Pro785Arg) c.1961C>G (p.Pro654Arg) c.2423C>G (p.Pro808Arg) c.2360C>G (p.Pro787Arg) c.2357C>G (p.Pro786Arg) c.2315C>G (p.Pro772Arg) c.1388C>G (p.Pro463Arg) | |
20 | g.63406891G= | CA2374774289 | KCNQ2 | c.2426C= (p.Pro809=) c.2372C= (p.Pro791=) c.1769C= (p.Pro590=) c.2279C= (p.Pro760=) c.1940C= (p.Pro647=) c.2288C= (p.Pro763=) c.2241+155C= (n.2241+155C=) c.2205+155C= (n.2205+155C=) c.2318C= (p.Pro773=) c.2133+155C= (n.2133+155C=) c.1680-6048C= (n.1680-6048C=) c.2414C= (p.Pro805=) c.2480C= (p.Pro827=) c.2477C= (p.Pro826=) c.2450C= (p.Pro817=) c.2396C= (p.Pro799=) c.2369C= (p.Pro790=) c.2354C= (p.Pro785=) c.1961C= (p.Pro654=) c.2423C= (p.Pro808=) c.2360C= (p.Pro787=) c.2357C= (p.Pro786=) c.2315C= (p.Pro772=) c.1388C= (p.Pro463=) | |
20 | g.63406891G>T | CA409637439 | KCNQ2 | c.2426C>A (p.Pro809Gln) c.2372C>A (p.Pro791Gln) c.1769C>A (p.Pro590Gln) c.2279C>A (p.Pro760Gln) c.1940C>A (p.Pro647Gln) c.2288C>A (p.Pro763Gln) c.2241+155C>A (n.2241+155C>A) c.2205+155C>A (n.2205+155C>A) c.2318C>A (p.Pro773Gln) c.2133+155C>A (n.2133+155C>A) c.1680-6048C>A (n.1680-6048C>A) c.2414C>A (p.Pro805Gln) c.2480C>A (p.Pro827Gln) c.2477C>A (p.Pro826Gln) c.2450C>A (p.Pro817Gln) c.2396C>A (p.Pro799Gln) c.2369C>A (p.Pro790Gln) c.2354C>A (p.Pro785Gln) c.1961C>A (p.Pro654Gln) c.2423C>A (p.Pro808Gln) c.2360C>A (p.Pro787Gln) c.2357C>A (p.Pro786Gln) c.2315C>A (p.Pro772Gln) c.1388C>A (p.Pro463Gln) | |
20 | g.63406892G>A | CA409637445 | KCNQ2 | c.2425C>T (p.Pro809Ser) c.2371C>T (p.Pro791Ser) c.1768C>T (p.Pro590Ser) c.2278C>T (p.Pro760Ser) c.1939C>T (p.Pro647Ser) c.2287C>T (p.Pro763Ser) c.2241+154C>T (n.2241+154C>T) c.2205+154C>T (n.2205+154C>T) c.2317C>T (p.Pro773Ser) c.2133+154C>T (n.2133+154C>T) c.1680-6049C>T (n.1680-6049C>T) c.2413C>T (p.Pro805Ser) c.2479C>T (p.Pro827Ser) c.2476C>T (p.Pro826Ser) c.2449C>T (p.Pro817Ser) c.2395C>T (p.Pro799Ser) c.2368C>T (p.Pro790Ser) c.2353C>T (p.Pro785Ser) c.1960C>T (p.Pro654Ser) c.2422C>T (p.Pro808Ser) c.2359C>T (p.Pro787Ser) c.2356C>T (p.Pro786Ser) c.2314C>T (p.Pro772Ser) c.1387C>T (p.Pro463Ser) | COSMIC COSMIC COSMIC |
20 | g.63406892G>C | CA409637447 | KCNQ2 | c.2425C>G (p.Pro809Ala) c.2371C>G (p.Pro791Ala) c.1768C>G (p.Pro590Ala) c.2278C>G (p.Pro760Ala) c.1939C>G (p.Pro647Ala) c.2287C>G (p.Pro763Ala) c.2241+154C>G (n.2241+154C>G) c.2205+154C>G (n.2205+154C>G) c.2317C>G (p.Pro773Ala) c.2133+154C>G (n.2133+154C>G) c.1680-6049C>G (n.1680-6049C>G) c.2413C>G (p.Pro805Ala) c.2479C>G (p.Pro827Ala) c.2476C>G (p.Pro826Ala) c.2449C>G (p.Pro817Ala) c.2395C>G (p.Pro799Ala) c.2368C>G (p.Pro790Ala) c.2353C>G (p.Pro785Ala) c.1960C>G (p.Pro654Ala) c.2422C>G (p.Pro808Ala) c.2359C>G (p.Pro787Ala) c.2356C>G (p.Pro786Ala) c.2314C>G (p.Pro772Ala) c.1387C>G (p.Pro463Ala) | |
20 | g.63406892G>T | CA409637450 | KCNQ2 | c.2425C>A (p.Pro809Thr) c.2371C>A (p.Pro791Thr) c.1768C>A (p.Pro590Thr) c.2278C>A (p.Pro760Thr) c.1939C>A (p.Pro647Thr) c.2287C>A (p.Pro763Thr) c.2241+154C>A (n.2241+154C>A) c.2205+154C>A (n.2205+154C>A) c.2317C>A (p.Pro773Thr) c.2133+154C>A (n.2133+154C>A) c.1680-6049C>A (n.1680-6049C>A) c.2413C>A (p.Pro805Thr) c.2479C>A (p.Pro827Thr) c.2476C>A (p.Pro826Thr) c.2449C>A (p.Pro817Thr) c.2395C>A (p.Pro799Thr) c.2368C>A (p.Pro790Thr) c.2353C>A (p.Pro785Thr) c.1960C>A (p.Pro654Thr) c.2422C>A (p.Pro808Thr) c.2359C>A (p.Pro787Thr) c.2356C>A (p.Pro786Thr) c.2314C>A (p.Pro772Thr) c.1387C>A (p.Pro463Thr) | |
20 | g.63406893G>A | CA9958087 | KCNQ2 | c.2424C>T (p.Ile808=) c.2370C>T (p.Ile790=) c.1767C>T (p.Ile589=) c.2277C>T (p.Ile759=) c.1938C>T (p.Ile646=) c.2286C>T (p.Ile762=) c.2241+153C>T (n.2241+153C>T) c.2205+153C>T (n.2205+153C>T) c.2316C>T (p.Ile772=) c.2133+153C>T (n.2133+153C>T) c.1680-6050C>T (n.1680-6050C>T) c.2412C>T (p.Ile804=) c.2478C>T (p.Ile826=) c.2475C>T (p.Ile825=) c.2448C>T (p.Ile816=) c.2394C>T (p.Ile798=) c.2367C>T (p.Ile789=) c.2352C>T (p.Ile784=) c.1959C>T (p.Ile653=) c.2421C>T (p.Ile807=) c.2358C>T (p.Ile786=) c.2355C>T (p.Ile785=) c.2313C>T (p.Ile771=) c.1386C>T (p.Ile462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406893G>C | CA409637454 | KCNQ2 | c.2424C>G (p.Ile808Met) c.2370C>G (p.Ile790Met) c.1767C>G (p.Ile589Met) c.2277C>G (p.Ile759Met) c.1938C>G (p.Ile646Met) c.2286C>G (p.Ile762Met) c.2241+153C>G (n.2241+153C>G) c.2205+153C>G (n.2205+153C>G) c.2316C>G (p.Ile772Met) c.2133+153C>G (n.2133+153C>G) c.1680-6050C>G (n.1680-6050C>G) c.2412C>G (p.Ile804Met) c.2478C>G (p.Ile826Met) c.2475C>G (p.Ile825Met) c.2448C>G (p.Ile816Met) c.2394C>G (p.Ile798Met) c.2367C>G (p.Ile789Met) c.2352C>G (p.Ile784Met) c.1959C>G (p.Ile653Met) c.2421C>G (p.Ile807Met) c.2358C>G (p.Ile786Met) c.2355C>G (p.Ile785Met) c.2313C>G (p.Ile771Met) c.1386C>G (p.Ile462Met) | |
20 | g.63406893G= | CA2374774290 | KCNQ2 | c.2424C= (p.Ile808=) c.2370C= (p.Ile790=) c.1767C= (p.Ile589=) c.2277C= (p.Ile759=) c.1938C= (p.Ile646=) c.2286C= (p.Ile762=) c.2241+153C= (n.2241+153C=) c.2205+153C= (n.2205+153C=) c.2316C= (p.Ile772=) c.2133+153C= (n.2133+153C=) c.1680-6050C= (n.1680-6050C=) c.2412C= (p.Ile804=) c.2478C= (p.Ile826=) c.2475C= (p.Ile825=) c.2448C= (p.Ile816=) c.2394C= (p.Ile798=) c.2367C= (p.Ile789=) c.2352C= (p.Ile784=) c.1959C= (p.Ile653=) c.2421C= (p.Ile807=) c.2358C= (p.Ile786=) c.2355C= (p.Ile785=) c.2313C= (p.Ile771=) c.1386C= (p.Ile462=) | |
20 | g.63406893G>T | CA511339248 | KCNQ2 | c.2424C>A (p.Ile808=) c.2370C>A (p.Ile790=) c.1767C>A (p.Ile589=) c.2277C>A (p.Ile759=) c.1938C>A (p.Ile646=) c.2286C>A (p.Ile762=) c.2241+153C>A (n.2241+153C>A) c.2205+153C>A (n.2205+153C>A) c.2316C>A (p.Ile772=) c.2133+153C>A (n.2133+153C>A) c.1680-6050C>A (n.1680-6050C>A) c.2412C>A (p.Ile804=) c.2478C>A (p.Ile826=) c.2475C>A (p.Ile825=) c.2448C>A (p.Ile816=) c.2394C>A (p.Ile798=) c.2367C>A (p.Ile789=) c.2352C>A (p.Ile784=) c.1959C>A (p.Ile653=) c.2421C>A (p.Ile807=) c.2358C>A (p.Ile786=) c.2355C>A (p.Ile785=) c.2313C>A (p.Ile771=) c.1386C>A (p.Ile462=) | gnomAD v4 |
20 | g.63406894A>C | CA409637456 | KCNQ2 | c.2423T>G (p.Ile808Ser) c.2369T>G (p.Ile790Ser) c.1766T>G (p.Ile589Ser) c.2276T>G (p.Ile759Ser) c.1937T>G (p.Ile646Ser) c.2285T>G (p.Ile762Ser) c.2241+152T>G (n.2241+152T>G) c.2205+152T>G (n.2205+152T>G) c.2315T>G (p.Ile772Ser) c.2133+152T>G (n.2133+152T>G) c.1680-6051T>G (n.1680-6051T>G) c.2411T>G (p.Ile804Ser) c.2477T>G (p.Ile826Ser) c.2474T>G (p.Ile825Ser) c.2447T>G (p.Ile816Ser) c.2393T>G (p.Ile798Ser) c.2366T>G (p.Ile789Ser) c.2351T>G (p.Ile784Ser) c.1958T>G (p.Ile653Ser) c.2420T>G (p.Ile807Ser) c.2357T>G (p.Ile786Ser) c.2354T>G (p.Ile785Ser) c.2312T>G (p.Ile771Ser) c.1385T>G (p.Ile462Ser) | |
20 | g.63406894A>G | CA409637458 | KCNQ2 | c.2423T>C (p.Ile808Thr) c.2369T>C (p.Ile790Thr) c.1766T>C (p.Ile589Thr) c.2276T>C (p.Ile759Thr) c.1937T>C (p.Ile646Thr) c.2285T>C (p.Ile762Thr) c.2241+152T>C (n.2241+152T>C) c.2205+152T>C (n.2205+152T>C) c.2315T>C (p.Ile772Thr) c.2133+152T>C (n.2133+152T>C) c.1680-6051T>C (n.1680-6051T>C) c.2411T>C (p.Ile804Thr) c.2477T>C (p.Ile826Thr) c.2474T>C (p.Ile825Thr) c.2447T>C (p.Ile816Thr) c.2393T>C (p.Ile798Thr) c.2366T>C (p.Ile789Thr) c.2351T>C (p.Ile784Thr) c.1958T>C (p.Ile653Thr) c.2420T>C (p.Ile807Thr) c.2357T>C (p.Ile786Thr) c.2354T>C (p.Ile785Thr) c.2312T>C (p.Ile771Thr) c.1385T>C (p.Ile462Thr) | ClinVar dbSNP gnomAD v4 |
20 | g.63406894A>T | CA409637460 | KCNQ2 | c.2423T>A (p.Ile808Asn) c.2369T>A (p.Ile790Asn) c.1766T>A (p.Ile589Asn) c.2276T>A (p.Ile759Asn) c.1937T>A (p.Ile646Asn) c.2285T>A (p.Ile762Asn) c.2241+152T>A (n.2241+152T>A) c.2205+152T>A (n.2205+152T>A) c.2315T>A (p.Ile772Asn) c.2133+152T>A (n.2133+152T>A) c.1680-6051T>A (n.1680-6051T>A) c.2411T>A (p.Ile804Asn) c.2477T>A (p.Ile826Asn) c.2474T>A (p.Ile825Asn) c.2447T>A (p.Ile816Asn) c.2393T>A (p.Ile798Asn) c.2366T>A (p.Ile789Asn) c.2351T>A (p.Ile784Asn) c.1958T>A (p.Ile653Asn) c.2420T>A (p.Ile807Asn) c.2357T>A (p.Ile786Asn) c.2354T>A (p.Ile785Asn) c.2312T>A (p.Ile771Asn) c.1385T>A (p.Ile462Asn) | |
20 | g.63406895T>A | CA409637464 | KCNQ2 | c.2422A>T (p.Ile808Phe) c.2368A>T (p.Ile790Phe) c.1765A>T (p.Ile589Phe) c.2275A>T (p.Ile759Phe) c.1936A>T (p.Ile646Phe) c.2284A>T (p.Ile762Phe) c.2241+151A>T (n.2241+151A>T) c.2205+151A>T (n.2205+151A>T) c.2314A>T (p.Ile772Phe) c.2133+151A>T (n.2133+151A>T) c.1680-6052A>T (n.1680-6052A>T) c.2410A>T (p.Ile804Phe) c.2476A>T (p.Ile826Phe) c.2473A>T (p.Ile825Phe) c.2446A>T (p.Ile816Phe) c.2392A>T (p.Ile798Phe) c.2365A>T (p.Ile789Phe) c.2350A>T (p.Ile784Phe) c.1957A>T (p.Ile653Phe) c.2419A>T (p.Ile807Phe) c.2356A>T (p.Ile786Phe) c.2353A>T (p.Ile785Phe) c.2311A>T (p.Ile771Phe) c.1384A>T (p.Ile462Phe) | |
20 | g.63406895T>C | CA409637467 | KCNQ2 | c.2422A>G (p.Ile808Val) c.2368A>G (p.Ile790Val) c.1765A>G (p.Ile589Val) c.2275A>G (p.Ile759Val) c.1936A>G (p.Ile646Val) c.2284A>G (p.Ile762Val) c.2241+151A>G (n.2241+151A>G) c.2205+151A>G (n.2205+151A>G) c.2314A>G (p.Ile772Val) c.2133+151A>G (n.2133+151A>G) c.1680-6052A>G (n.1680-6052A>G) c.2410A>G (p.Ile804Val) c.2476A>G (p.Ile826Val) c.2473A>G (p.Ile825Val) c.2446A>G (p.Ile816Val) c.2392A>G (p.Ile798Val) c.2365A>G (p.Ile789Val) c.2350A>G (p.Ile784Val) c.1957A>G (p.Ile653Val) c.2419A>G (p.Ile807Val) c.2356A>G (p.Ile786Val) c.2353A>G (p.Ile785Val) c.2311A>G (p.Ile771Val) c.1384A>G (p.Ile462Val) | gnomAD v4 |
20 | g.63406895T>G | CA317421801 | KCNQ2 | c.2422A>C (p.Ile808Leu) c.2368A>C (p.Ile790Leu) c.1765A>C (p.Ile589Leu) c.2275A>C (p.Ile759Leu) c.1936A>C (p.Ile646Leu) c.2284A>C (p.Ile762Leu) c.2241+151A>C (n.2241+151A>C) c.2205+151A>C (n.2205+151A>C) c.2314A>C (p.Ile772Leu) c.2133+151A>C (n.2133+151A>C) c.1680-6052A>C (n.1680-6052A>C) c.2410A>C (p.Ile804Leu) c.2476A>C (p.Ile826Leu) c.2473A>C (p.Ile825Leu) c.2446A>C (p.Ile816Leu) c.2392A>C (p.Ile798Leu) c.2365A>C (p.Ile789Leu) c.2350A>C (p.Ile784Leu) c.1957A>C (p.Ile653Leu) c.2419A>C (p.Ile807Leu) c.2356A>C (p.Ile786Leu) c.2353A>C (p.Ile785Leu) c.2311A>C (p.Ile771Leu) c.1384A>C (p.Ile462Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406895T= | CA2374774291 | KCNQ2 | c.2422A= (p.Ile808=) c.2368A= (p.Ile790=) c.1765A= (p.Ile589=) c.2275A= (p.Ile759=) c.1936A= (p.Ile646=) c.2284A= (p.Ile762=) c.2241+151A= (n.2241+151A=) c.2205+151A= (n.2205+151A=) c.2314A= (p.Ile772=) c.2133+151A= (n.2133+151A=) c.1680-6052A= (n.1680-6052A=) c.2410A= (p.Ile804=) c.2476A= (p.Ile826=) c.2473A= (p.Ile825=) c.2446A= (p.Ile816=) c.2392A= (p.Ile798=) c.2365A= (p.Ile789=) c.2350A= (p.Ile784=) c.1957A= (p.Ile653=) c.2419A= (p.Ile807=) c.2356A= (p.Ile786=) c.2353A= (p.Ile785=) c.2311A= (p.Ile771=) c.1384A= (p.Ile462=) | |
20 | g.63406896G>A | CA511339250 | KCNQ2 | c.2421C>T (p.Ser807=) c.2367C>T (p.Ser789=) c.1764C>T (p.Ser588=) c.2274C>T (p.Ser758=) c.1935C>T (p.Ser645=) c.2283C>T (p.Ser761=) c.2241+150C>T (n.2241+150C>T) c.2205+150C>T (n.2205+150C>T) c.2313C>T (p.Ser771=) c.2133+150C>T (n.2133+150C>T) c.1680-6053C>T (n.1680-6053C>T) c.2409C>T (p.Ser803=) c.2475C>T (p.Ser825=) c.2472C>T (p.Ser824=) c.2445C>T (p.Ser815=) c.2391C>T (p.Ser797=) c.2364C>T (p.Ser788=) c.2349C>T (p.Ser783=) c.1956C>T (p.Ser652=) c.2418C>T (p.Ser806=) c.2355C>T (p.Ser785=) c.2352C>T (p.Ser784=) c.2310C>T (p.Ser770=) c.1383C>T (p.Ser461=) | |
20 | g.63406896G>C | CA511339251 | KCNQ2 | c.2421C>G (p.Ser807=) c.2367C>G (p.Ser789=) c.1764C>G (p.Ser588=) c.2274C>G (p.Ser758=) c.1935C>G (p.Ser645=) c.2283C>G (p.Ser761=) c.2241+150C>G (n.2241+150C>G) c.2205+150C>G (n.2205+150C>G) c.2313C>G (p.Ser771=) c.2133+150C>G (n.2133+150C>G) c.1680-6053C>G (n.1680-6053C>G) c.2409C>G (p.Ser803=) c.2475C>G (p.Ser825=) c.2472C>G (p.Ser824=) c.2445C>G (p.Ser815=) c.2391C>G (p.Ser797=) c.2364C>G (p.Ser788=) c.2349C>G (p.Ser783=) c.1956C>G (p.Ser652=) c.2418C>G (p.Ser806=) c.2355C>G (p.Ser785=) c.2352C>G (p.Ser784=) c.2310C>G (p.Ser770=) c.1383C>G (p.Ser461=) | |
20 | g.63406896G>T | CA511339252 | KCNQ2 | c.2421C>A (p.Ser807=) c.2367C>A (p.Ser789=) c.1764C>A (p.Ser588=) c.2274C>A (p.Ser758=) c.1935C>A (p.Ser645=) c.2283C>A (p.Ser761=) c.2241+150C>A (n.2241+150C>A) c.2205+150C>A (n.2205+150C>A) c.2313C>A (p.Ser771=) c.2133+150C>A (n.2133+150C>A) c.1680-6053C>A (n.1680-6053C>A) c.2409C>A (p.Ser803=) c.2475C>A (p.Ser825=) c.2472C>A (p.Ser824=) c.2445C>A (p.Ser815=) c.2391C>A (p.Ser797=) c.2364C>A (p.Ser788=) c.2349C>A (p.Ser783=) c.1956C>A (p.Ser652=) c.2418C>A (p.Ser806=) c.2355C>A (p.Ser785=) c.2352C>A (p.Ser784=) c.2310C>A (p.Ser770=) c.1383C>A (p.Ser461=) | gnomAD v4 |
20 | g.63406897G>A | CA409637475 | KCNQ2 | c.2420C>T (p.Ser807Phe) c.2366C>T (p.Ser789Phe) c.1763C>T (p.Ser588Phe) c.2273C>T (p.Ser758Phe) c.1934C>T (p.Ser645Phe) c.2282C>T (p.Ser761Phe) c.2241+149C>T (n.2241+149C>T) c.2205+149C>T (n.2205+149C>T) c.2312C>T (p.Ser771Phe) c.2133+149C>T (n.2133+149C>T) c.1680-6054C>T (n.1680-6054C>T) c.2408C>T (p.Ser803Phe) c.2474C>T (p.Ser825Phe) c.2471C>T (p.Ser824Phe) c.2444C>T (p.Ser815Phe) c.2390C>T (p.Ser797Phe) c.2363C>T (p.Ser788Phe) c.2348C>T (p.Ser783Phe) c.1955C>T (p.Ser652Phe) c.2417C>T (p.Ser806Phe) c.2354C>T (p.Ser785Phe) c.2351C>T (p.Ser784Phe) c.2309C>T (p.Ser770Phe) c.1382C>T (p.Ser461Phe) | gnomAD v4 |
20 | g.63406897G>C | CA409637478 | KCNQ2 | c.2420C>G (p.Ser807Cys) c.2366C>G (p.Ser789Cys) c.1763C>G (p.Ser588Cys) c.2273C>G (p.Ser758Cys) c.1934C>G (p.Ser645Cys) c.2282C>G (p.Ser761Cys) c.2241+149C>G (n.2241+149C>G) c.2205+149C>G (n.2205+149C>G) c.2312C>G (p.Ser771Cys) c.2133+149C>G (n.2133+149C>G) c.1680-6054C>G (n.1680-6054C>G) c.2408C>G (p.Ser803Cys) c.2474C>G (p.Ser825Cys) c.2471C>G (p.Ser824Cys) c.2444C>G (p.Ser815Cys) c.2390C>G (p.Ser797Cys) c.2363C>G (p.Ser788Cys) c.2348C>G (p.Ser783Cys) c.1955C>G (p.Ser652Cys) c.2417C>G (p.Ser806Cys) c.2354C>G (p.Ser785Cys) c.2351C>G (p.Ser784Cys) c.2309C>G (p.Ser770Cys) c.1382C>G (p.Ser461Cys) | gnomAD v4 |
20 | g.63406897G>T | CA409637472 | KCNQ2 | c.2420C>A (p.Ser807Tyr) c.2366C>A (p.Ser789Tyr) c.1763C>A (p.Ser588Tyr) c.2273C>A (p.Ser758Tyr) c.1934C>A (p.Ser645Tyr) c.2282C>A (p.Ser761Tyr) c.2241+149C>A (n.2241+149C>A) c.2205+149C>A (n.2205+149C>A) c.2312C>A (p.Ser771Tyr) c.2133+149C>A (n.2133+149C>A) c.1680-6054C>A (n.1680-6054C>A) c.2408C>A (p.Ser803Tyr) c.2474C>A (p.Ser825Tyr) c.2471C>A (p.Ser824Tyr) c.2444C>A (p.Ser815Tyr) c.2390C>A (p.Ser797Tyr) c.2363C>A (p.Ser788Tyr) c.2348C>A (p.Ser783Tyr) c.1955C>A (p.Ser652Tyr) c.2417C>A (p.Ser806Tyr) c.2354C>A (p.Ser785Tyr) c.2351C>A (p.Ser784Tyr) c.2309C>A (p.Ser770Tyr) c.1382C>A (p.Ser461Tyr) | |
20 | g.63406898A= | CA2374774292 | KCNQ2 | c.2419T= (p.Ser807=) c.2365T= (p.Ser789=) c.1762T= (p.Ser588=) c.2272T= (p.Ser758=) c.1933T= (p.Ser645=) c.2281T= (p.Ser761=) c.2241+148T= (n.2241+148T=) c.2205+148T= (n.2205+148T=) c.2311T= (p.Ser771=) c.2133+148T= (n.2133+148T=) c.1680-6055T= (n.1680-6055T=) c.2407T= (p.Ser803=) c.2473T= (p.Ser825=) c.2470T= (p.Ser824=) c.2443T= (p.Ser815=) c.2389T= (p.Ser797=) c.2362T= (p.Ser788=) c.2347T= (p.Ser783=) c.1954T= (p.Ser652=) c.2416T= (p.Ser806=) c.2353T= (p.Ser785=) c.2350T= (p.Ser784=) c.2308T= (p.Ser770=) c.1381T= (p.Ser461=) | |
20 | g.63406898A>C | CA9958088 | KCNQ2 | c.2419T>G (p.Ser807Ala) c.2365T>G (p.Ser789Ala) c.1762T>G (p.Ser588Ala) c.2272T>G (p.Ser758Ala) c.1933T>G (p.Ser645Ala) c.2281T>G (p.Ser761Ala) c.2241+148T>G (n.2241+148T>G) c.2205+148T>G (n.2205+148T>G) c.2311T>G (p.Ser771Ala) c.2133+148T>G (n.2133+148T>G) c.1680-6055T>G (n.1680-6055T>G) c.2407T>G (p.Ser803Ala) c.2473T>G (p.Ser825Ala) c.2470T>G (p.Ser824Ala) c.2443T>G (p.Ser815Ala) c.2389T>G (p.Ser797Ala) c.2362T>G (p.Ser788Ala) c.2347T>G (p.Ser783Ala) c.1954T>G (p.Ser652Ala) c.2416T>G (p.Ser806Ala) c.2353T>G (p.Ser785Ala) c.2350T>G (p.Ser784Ala) c.2308T>G (p.Ser770Ala) c.1381T>G (p.Ser461Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406898A>G | CA409637483 | KCNQ2 | c.2419T>C (p.Ser807Pro) c.2365T>C (p.Ser789Pro) c.1762T>C (p.Ser588Pro) c.2272T>C (p.Ser758Pro) c.1933T>C (p.Ser645Pro) c.2281T>C (p.Ser761Pro) c.2241+148T>C (n.2241+148T>C) c.2205+148T>C (n.2205+148T>C) c.2311T>C (p.Ser771Pro) c.2133+148T>C (n.2133+148T>C) c.1680-6055T>C (n.1680-6055T>C) c.2407T>C (p.Ser803Pro) c.2473T>C (p.Ser825Pro) c.2470T>C (p.Ser824Pro) c.2443T>C (p.Ser815Pro) c.2389T>C (p.Ser797Pro) c.2362T>C (p.Ser788Pro) c.2347T>C (p.Ser783Pro) c.1954T>C (p.Ser652Pro) c.2416T>C (p.Ser806Pro) c.2353T>C (p.Ser785Pro) c.2350T>C (p.Ser784Pro) c.2308T>C (p.Ser770Pro) c.1381T>C (p.Ser461Pro) | |
20 | g.63406898A>T | CA409637486 | KCNQ2 | c.2419T>A (p.Ser807Thr) c.2365T>A (p.Ser789Thr) c.1762T>A (p.Ser588Thr) c.2272T>A (p.Ser758Thr) c.1933T>A (p.Ser645Thr) c.2281T>A (p.Ser761Thr) c.2241+148T>A (n.2241+148T>A) c.2205+148T>A (n.2205+148T>A) c.2311T>A (p.Ser771Thr) c.2133+148T>A (n.2133+148T>A) c.1680-6055T>A (n.1680-6055T>A) c.2407T>A (p.Ser803Thr) c.2473T>A (p.Ser825Thr) c.2470T>A (p.Ser824Thr) c.2443T>A (p.Ser815Thr) c.2389T>A (p.Ser797Thr) c.2362T>A (p.Ser788Thr) c.2347T>A (p.Ser783Thr) c.1954T>A (p.Ser652Thr) c.2416T>A (p.Ser806Thr) c.2353T>A (p.Ser785Thr) c.2350T>A (p.Ser784Thr) c.2308T>A (p.Ser770Thr) c.1381T>A (p.Ser461Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406899G>A | CA511339257 | KCNQ2 | c.2418C>T (p.Ile806=) c.2364C>T (p.Ile788=) c.1761C>T (p.Ile587=) c.2271C>T (p.Ile757=) c.1932C>T (p.Ile644=) c.2280C>T (p.Ile760=) c.2241+147C>T (n.2241+147C>T) c.2205+147C>T (n.2205+147C>T) c.2310C>T (p.Ile770=) c.2133+147C>T (n.2133+147C>T) c.1680-6056C>T (n.1680-6056C>T) c.2406C>T (p.Ile802=) c.2472C>T (p.Ile824=) c.2469C>T (p.Ile823=) c.2442C>T (p.Ile814=) c.2388C>T (p.Ile796=) c.2361C>T (p.Ile787=) c.2346C>T (p.Ile782=) c.1953C>T (p.Ile651=) c.2415C>T (p.Ile805=) c.2352C>T (p.Ile784=) c.2349C>T (p.Ile783=) c.2307C>T (p.Ile769=) c.1380C>T (p.Ile460=) | dbSNP gnomAD v2 |
20 | g.63406899G>C | CA409637489 | KCNQ2 | c.2418C>G (p.Ile806Met) c.2364C>G (p.Ile788Met) c.1761C>G (p.Ile587Met) c.2271C>G (p.Ile757Met) c.1932C>G (p.Ile644Met) c.2280C>G (p.Ile760Met) c.2241+147C>G (n.2241+147C>G) c.2205+147C>G (n.2205+147C>G) c.2310C>G (p.Ile770Met) c.2133+147C>G (n.2133+147C>G) c.1680-6056C>G (n.1680-6056C>G) c.2406C>G (p.Ile802Met) c.2472C>G (p.Ile824Met) c.2469C>G (p.Ile823Met) c.2442C>G (p.Ile814Met) c.2388C>G (p.Ile796Met) c.2361C>G (p.Ile787Met) c.2346C>G (p.Ile782Met) c.1953C>G (p.Ile651Met) c.2415C>G (p.Ile805Met) c.2352C>G (p.Ile784Met) c.2349C>G (p.Ile783Met) c.2307C>G (p.Ile769Met) c.1380C>G (p.Ile460Met) | |
20 | g.63406899G= | CA2374774293 | KCNQ2 | c.2418C= (p.Ile806=) c.2364C= (p.Ile788=) c.1761C= (p.Ile587=) c.2271C= (p.Ile757=) c.1932C= (p.Ile644=) c.2280C= (p.Ile760=) c.2241+147C= (n.2241+147C=) c.2205+147C= (n.2205+147C=) c.2310C= (p.Ile770=) c.2133+147C= (n.2133+147C=) c.1680-6056C= (n.1680-6056C=) c.2406C= (p.Ile802=) c.2472C= (p.Ile824=) c.2469C= (p.Ile823=) c.2442C= (p.Ile814=) c.2388C= (p.Ile796=) c.2361C= (p.Ile787=) c.2346C= (p.Ile782=) c.1953C= (p.Ile651=) c.2415C= (p.Ile805=) c.2352C= (p.Ile784=) c.2349C= (p.Ile783=) c.2307C= (p.Ile769=) c.1380C= (p.Ile460=) | |
20 | g.63406899G>T | CA511339255 | KCNQ2 | c.2418C>A (p.Ile806=) c.2364C>A (p.Ile788=) c.1761C>A (p.Ile587=) c.2271C>A (p.Ile757=) c.1932C>A (p.Ile644=) c.2280C>A (p.Ile760=) c.2241+147C>A (n.2241+147C>A) c.2205+147C>A (n.2205+147C>A) c.2310C>A (p.Ile770=) c.2133+147C>A (n.2133+147C>A) c.1680-6056C>A (n.1680-6056C>A) c.2406C>A (p.Ile802=) c.2472C>A (p.Ile824=) c.2469C>A (p.Ile823=) c.2442C>A (p.Ile814=) c.2388C>A (p.Ile796=) c.2361C>A (p.Ile787=) c.2346C>A (p.Ile782=) c.1953C>A (p.Ile651=) c.2415C>A (p.Ile805=) c.2352C>A (p.Ile784=) c.2349C>A (p.Ile783=) c.2307C>A (p.Ile769=) c.1380C>A (p.Ile460=) | gnomAD v4 |
20 | g.63406901_63406904del | CA2580098403 | KCNQ2 | c.2415_2418del (p.Ile806ProfsTer?) c.2361_2364del (p.Ile788ProfsTer?) c.1758_1761del (p.Ile587ProfsTer?) c.2268_2271del (p.Ile757ProfsTer?) c.1929_1932del (p.Ile644ProfsTer?) c.2277_2280del (p.Ile760ProfsTer?) c.2241+144_2241+147del (n.2241+144_2241+147del) c.2205+144_2205+147del (n.2205+144_2205+147del) c.2307_2310del (p.Ile770ProfsTer?) c.2133+144_2133+147del (n.2133+144_2133+147del) c.1680-6059_1680-6056del (n.1680-6059_1680-6056del) c.2403_2406del (p.Ile802ProfsTer?) c.2469_2472del (p.Ile824ProfsTer?) c.2466_2469del (p.Ile823ProfsTer?) c.2439_2442del (p.Ile814ProfsTer?) c.2385_2388del (p.Ile796ProfsTer?) c.2358_2361del (p.Ile787ProfsTer?) c.2343_2346del (p.Ile782ProfsTer?) c.1950_1953del (p.Ile651ProfsTer?) c.2412_2415del (p.Ile805ProfsTer?) c.2349_2352del (p.Ile784ProfsTer?) c.2346_2349del (p.Ile783ProfsTer?) c.2304_2307del (p.Ile769ProfsTer?) c.1377_1380del (p.Ile460ProfsTer?) | ClinVar |
20 | g.63406900A>C | CA409637493 | KCNQ2 | c.2417T>G (p.Ile806Ser) c.2363T>G (p.Ile788Ser) c.1760T>G (p.Ile587Ser) c.2270T>G (p.Ile757Ser) c.1931T>G (p.Ile644Ser) c.2279T>G (p.Ile760Ser) c.2241+146T>G (n.2241+146T>G) c.2205+146T>G (n.2205+146T>G) c.2309T>G (p.Ile770Ser) c.2133+146T>G (n.2133+146T>G) c.1680-6057T>G (n.1680-6057T>G) c.2405T>G (p.Ile802Ser) c.2471T>G (p.Ile824Ser) c.2468T>G (p.Ile823Ser) c.2441T>G (p.Ile814Ser) c.2387T>G (p.Ile796Ser) c.2360T>G (p.Ile787Ser) c.2345T>G (p.Ile782Ser) c.1952T>G (p.Ile651Ser) c.2414T>G (p.Ile805Ser) c.2351T>G (p.Ile784Ser) c.2348T>G (p.Ile783Ser) c.2306T>G (p.Ile769Ser) c.1379T>G (p.Ile460Ser) | |
20 | g.63406900A>G | CA409637496 | KCNQ2 | c.2417T>C (p.Ile806Thr) c.2363T>C (p.Ile788Thr) c.1760T>C (p.Ile587Thr) c.2270T>C (p.Ile757Thr) c.1931T>C (p.Ile644Thr) c.2279T>C (p.Ile760Thr) c.2241+146T>C (n.2241+146T>C) c.2205+146T>C (n.2205+146T>C) c.2309T>C (p.Ile770Thr) c.2133+146T>C (n.2133+146T>C) c.1680-6057T>C (n.1680-6057T>C) c.2405T>C (p.Ile802Thr) c.2471T>C (p.Ile824Thr) c.2468T>C (p.Ile823Thr) c.2441T>C (p.Ile814Thr) c.2387T>C (p.Ile796Thr) c.2360T>C (p.Ile787Thr) c.2345T>C (p.Ile782Thr) c.1952T>C (p.Ile651Thr) c.2414T>C (p.Ile805Thr) c.2351T>C (p.Ile784Thr) c.2348T>C (p.Ile783Thr) c.2306T>C (p.Ile769Thr) c.1379T>C (p.Ile460Thr) | ClinVar dbSNP gnomAD v4 |
20 | g.63406900A>T | CA409637499 | KCNQ2 | c.2417T>A (p.Ile806Asn) c.2363T>A (p.Ile788Asn) c.1760T>A (p.Ile587Asn) c.2270T>A (p.Ile757Asn) c.1931T>A (p.Ile644Asn) c.2279T>A (p.Ile760Asn) c.2241+146T>A (n.2241+146T>A) c.2205+146T>A (n.2205+146T>A) c.2309T>A (p.Ile770Asn) c.2133+146T>A (n.2133+146T>A) c.1680-6057T>A (n.1680-6057T>A) c.2405T>A (p.Ile802Asn) c.2471T>A (p.Ile824Asn) c.2468T>A (p.Ile823Asn) c.2441T>A (p.Ile814Asn) c.2387T>A (p.Ile796Asn) c.2360T>A (p.Ile787Asn) c.2345T>A (p.Ile782Asn) c.1952T>A (p.Ile651Asn) c.2414T>A (p.Ile805Asn) c.2351T>A (p.Ile784Asn) c.2348T>A (p.Ile783Asn) c.2306T>A (p.Ile769Asn) c.1379T>A (p.Ile460Asn) | |
20 | g.63406901T>A | CA409637503 | KCNQ2 | c.2416A>T (p.Ile806Phe) c.2362A>T (p.Ile788Phe) c.1759A>T (p.Ile587Phe) c.2269A>T (p.Ile757Phe) c.1930A>T (p.Ile644Phe) c.2278A>T (p.Ile760Phe) c.2241+145A>T (n.2241+145A>T) c.2205+145A>T (n.2205+145A>T) c.2308A>T (p.Ile770Phe) c.2133+145A>T (n.2133+145A>T) c.1680-6058A>T (n.1680-6058A>T) c.2404A>T (p.Ile802Phe) c.2470A>T (p.Ile824Phe) c.2467A>T (p.Ile823Phe) c.2440A>T (p.Ile814Phe) c.2386A>T (p.Ile796Phe) c.2359A>T (p.Ile787Phe) c.2344A>T (p.Ile782Phe) c.1951A>T (p.Ile651Phe) c.2413A>T (p.Ile805Phe) c.2350A>T (p.Ile784Phe) c.2347A>T (p.Ile783Phe) c.2305A>T (p.Ile769Phe) c.1378A>T (p.Ile460Phe) | |
20 | g.63406901T>C | CA409637506 | KCNQ2 | c.2416A>G (p.Ile806Val) c.2362A>G (p.Ile788Val) c.1759A>G (p.Ile587Val) c.2269A>G (p.Ile757Val) c.1930A>G (p.Ile644Val) c.2278A>G (p.Ile760Val) c.2241+145A>G (n.2241+145A>G) c.2205+145A>G (n.2205+145A>G) c.2308A>G (p.Ile770Val) c.2133+145A>G (n.2133+145A>G) c.1680-6058A>G (n.1680-6058A>G) c.2404A>G (p.Ile802Val) c.2470A>G (p.Ile824Val) c.2467A>G (p.Ile823Val) c.2440A>G (p.Ile814Val) c.2386A>G (p.Ile796Val) c.2359A>G (p.Ile787Val) c.2344A>G (p.Ile782Val) c.1951A>G (p.Ile651Val) c.2413A>G (p.Ile805Val) c.2350A>G (p.Ile784Val) c.2347A>G (p.Ile783Val) c.2305A>G (p.Ile769Val) c.1378A>G (p.Ile460Val) | dbSNP gnomAD v4 |
20 | g.63406901T>G | CA409637508 | KCNQ2 | c.2416A>C (p.Ile806Leu) c.2362A>C (p.Ile788Leu) c.1759A>C (p.Ile587Leu) c.2269A>C (p.Ile757Leu) c.1930A>C (p.Ile644Leu) c.2278A>C (p.Ile760Leu) c.2241+145A>C (n.2241+145A>C) c.2205+145A>C (n.2205+145A>C) c.2308A>C (p.Ile770Leu) c.2133+145A>C (n.2133+145A>C) c.1680-6058A>C (n.1680-6058A>C) c.2404A>C (p.Ile802Leu) c.2470A>C (p.Ile824Leu) c.2467A>C (p.Ile823Leu) c.2440A>C (p.Ile814Leu) c.2386A>C (p.Ile796Leu) c.2359A>C (p.Ile787Leu) c.2344A>C (p.Ile782Leu) c.1951A>C (p.Ile651Leu) c.2413A>C (p.Ile805Leu) c.2350A>C (p.Ile784Leu) c.2347A>C (p.Ile783Leu) c.2305A>C (p.Ile769Leu) c.1378A>C (p.Ile460Leu) | |
20 | g.63406901T= | CA2374774294 | KCNQ2 | c.2416A= (p.Ile806=) c.2362A= (p.Ile788=) c.1759A= (p.Ile587=) c.2269A= (p.Ile757=) c.1930A= (p.Ile644=) c.2278A= (p.Ile760=) c.2241+145A= (n.2241+145A=) c.2205+145A= (n.2205+145A=) c.2308A= (p.Ile770=) c.2133+145A= (n.2133+145A=) c.1680-6058A= (n.1680-6058A=) c.2404A= (p.Ile802=) c.2470A= (p.Ile824=) c.2467A= (p.Ile823=) c.2440A= (p.Ile814=) c.2386A= (p.Ile796=) c.2359A= (p.Ile787=) c.2344A= (p.Ile782=) c.1951A= (p.Ile651=) c.2413A= (p.Ile805=) c.2350A= (p.Ile784=) c.2347A= (p.Ile783=) c.2305A= (p.Ile769=) c.1378A= (p.Ile460=) | |
20 | g.63406902G>A | CA511339258 | KCNQ2 | c.2415C>T (p.Ser805=) c.2361C>T (p.Ser787=) c.1758C>T (p.Ser586=) c.2268C>T (p.Ser756=) c.1929C>T (p.Ser643=) c.2277C>T (p.Ser759=) c.2241+144C>T (n.2241+144C>T) c.2205+144C>T (n.2205+144C>T) c.2307C>T (p.Ser769=) c.2133+144C>T (n.2133+144C>T) c.1680-6059C>T (n.1680-6059C>T) c.2403C>T (p.Ser801=) c.2469C>T (p.Ser823=) c.2466C>T (p.Ser822=) c.2439C>T (p.Ser813=) c.2385C>T (p.Ser795=) c.2358C>T (p.Ser786=) c.2343C>T (p.Ser781=) c.1950C>T (p.Ser650=) c.2412C>T (p.Ser804=) c.2349C>T (p.Ser783=) c.2346C>T (p.Ser782=) c.2304C>T (p.Ser768=) c.1377C>T (p.Ser459=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406902G>C | CA511339259 | KCNQ2 | c.2415C>G (p.Ser805=) c.2361C>G (p.Ser787=) c.1758C>G (p.Ser586=) c.2268C>G (p.Ser756=) c.1929C>G (p.Ser643=) c.2277C>G (p.Ser759=) c.2241+144C>G (n.2241+144C>G) c.2205+144C>G (n.2205+144C>G) c.2307C>G (p.Ser769=) c.2133+144C>G (n.2133+144C>G) c.1680-6059C>G (n.1680-6059C>G) c.2403C>G (p.Ser801=) c.2469C>G (p.Ser823=) c.2466C>G (p.Ser822=) c.2439C>G (p.Ser813=) c.2385C>G (p.Ser795=) c.2358C>G (p.Ser786=) c.2343C>G (p.Ser781=) c.1950C>G (p.Ser650=) c.2412C>G (p.Ser804=) c.2349C>G (p.Ser783=) c.2346C>G (p.Ser782=) c.2304C>G (p.Ser768=) c.1377C>G (p.Ser459=) | |
20 | g.63406902G= | CA2374774295 | KCNQ2 | c.2415C= (p.Ser805=) c.2361C= (p.Ser787=) c.1758C= (p.Ser586=) c.2268C= (p.Ser756=) c.1929C= (p.Ser643=) c.2277C= (p.Ser759=) c.2241+144C= (n.2241+144C=) c.2205+144C= (n.2205+144C=) c.2307C= (p.Ser769=) c.2133+144C= (n.2133+144C=) c.1680-6059C= (n.1680-6059C=) c.2403C= (p.Ser801=) c.2469C= (p.Ser823=) c.2466C= (p.Ser822=) c.2439C= (p.Ser813=) c.2385C= (p.Ser795=) c.2358C= (p.Ser786=) c.2343C= (p.Ser781=) c.1950C= (p.Ser650=) c.2412C= (p.Ser804=) c.2349C= (p.Ser783=) c.2346C= (p.Ser782=) c.2304C= (p.Ser768=) c.1377C= (p.Ser459=) | |
20 | g.63406902G>T | CA511339260 | KCNQ2 | c.2415C>A (p.Ser805=) c.2361C>A (p.Ser787=) c.1758C>A (p.Ser586=) c.2268C>A (p.Ser756=) c.1929C>A (p.Ser643=) c.2277C>A (p.Ser759=) c.2241+144C>A (n.2241+144C>A) c.2205+144C>A (n.2205+144C>A) c.2307C>A (p.Ser769=) c.2133+144C>A (n.2133+144C>A) c.1680-6059C>A (n.1680-6059C>A) c.2403C>A (p.Ser801=) c.2469C>A (p.Ser823=) c.2466C>A (p.Ser822=) c.2439C>A (p.Ser813=) c.2385C>A (p.Ser795=) c.2358C>A (p.Ser786=) c.2343C>A (p.Ser781=) c.1950C>A (p.Ser650=) c.2412C>A (p.Ser804=) c.2349C>A (p.Ser783=) c.2346C>A (p.Ser782=) c.2304C>A (p.Ser768=) c.1377C>A (p.Ser459=) | |
20 | g.63406903dup | CA915952956 | KCNQ2 | c.2415dup (p.Ile806HisfsTer?) c.2361dup (p.Ile788HisfsTer?) c.1758dup (p.Ile587HisfsTer?) c.2268dup (p.Ile757HisfsTer?) c.1929dup (p.Ile644HisfsTer?) c.2277dup (p.Ile760HisfsTer?) c.2241+144dup (n.2241+144dup) c.2205+144dup (n.2205+144dup) c.2307dup (p.Ile770HisfsTer?) c.2133+144dup (n.2133+144dup) c.1680-6059dup (n.1680-6059dup) c.2403dup (p.Ile802HisfsTer?) c.2469dup (p.Ile824HisfsTer?) c.2466dup (p.Ile823HisfsTer?) c.2439dup (p.Ile814HisfsTer?) c.2385dup (p.Ile796HisfsTer?) c.2358dup (p.Ile787HisfsTer?) c.2343dup (p.Ile782HisfsTer?) c.1950dup (p.Ile651HisfsTer?) c.2412dup (p.Ile805HisfsTer?) c.2349dup (p.Ile784HisfsTer?) c.2346dup (p.Ile783HisfsTer?) c.2304dup (p.Ile769HisfsTer?) c.1377dup (p.Ile460HisfsTer?) | ClinVar dbSNP |
20 | g.63406903G>A | CA409637513 | KCNQ2 | c.2414C>T (p.Ser805Phe) c.2360C>T (p.Ser787Phe) c.1757C>T (p.Ser586Phe) c.2267C>T (p.Ser756Phe) c.1928C>T (p.Ser643Phe) c.2276C>T (p.Ser759Phe) c.2241+143C>T (n.2241+143C>T) c.2205+143C>T (n.2205+143C>T) c.2306C>T (p.Ser769Phe) c.2133+143C>T (n.2133+143C>T) c.1680-6060C>T (n.1680-6060C>T) c.2402C>T (p.Ser801Phe) c.2468C>T (p.Ser823Phe) c.2465C>T (p.Ser822Phe) c.2438C>T (p.Ser813Phe) c.2384C>T (p.Ser795Phe) c.2357C>T (p.Ser786Phe) c.2342C>T (p.Ser781Phe) c.1949C>T (p.Ser650Phe) c.2411C>T (p.Ser804Phe) c.2348C>T (p.Ser783Phe) c.2345C>T (p.Ser782Phe) c.2303C>T (p.Ser768Phe) c.1376C>T (p.Ser459Phe) | gnomAD v4 |
20 | g.63406903G>C | CA409637515 | KCNQ2 | c.2414C>G (p.Ser805Cys) c.2360C>G (p.Ser787Cys) c.1757C>G (p.Ser586Cys) c.2267C>G (p.Ser756Cys) c.1928C>G (p.Ser643Cys) c.2276C>G (p.Ser759Cys) c.2241+143C>G (n.2241+143C>G) c.2205+143C>G (n.2205+143C>G) c.2306C>G (p.Ser769Cys) c.2133+143C>G (n.2133+143C>G) c.1680-6060C>G (n.1680-6060C>G) c.2402C>G (p.Ser801Cys) c.2468C>G (p.Ser823Cys) c.2465C>G (p.Ser822Cys) c.2438C>G (p.Ser813Cys) c.2384C>G (p.Ser795Cys) c.2357C>G (p.Ser786Cys) c.2342C>G (p.Ser781Cys) c.1949C>G (p.Ser650Cys) c.2411C>G (p.Ser804Cys) c.2348C>G (p.Ser783Cys) c.2345C>G (p.Ser782Cys) c.2303C>G (p.Ser768Cys) c.1376C>G (p.Ser459Cys) | |
20 | g.63406903G>T | CA409637517 | KCNQ2 | c.2414C>A (p.Ser805Tyr) c.2360C>A (p.Ser787Tyr) c.1757C>A (p.Ser586Tyr) c.2267C>A (p.Ser756Tyr) c.1928C>A (p.Ser643Tyr) c.2276C>A (p.Ser759Tyr) c.2241+143C>A (n.2241+143C>A) c.2205+143C>A (n.2205+143C>A) c.2306C>A (p.Ser769Tyr) c.2133+143C>A (n.2133+143C>A) c.1680-6060C>A (n.1680-6060C>A) c.2402C>A (p.Ser801Tyr) c.2468C>A (p.Ser823Tyr) c.2465C>A (p.Ser822Tyr) c.2438C>A (p.Ser813Tyr) c.2384C>A (p.Ser795Tyr) c.2357C>A (p.Ser786Tyr) c.2342C>A (p.Ser781Tyr) c.1949C>A (p.Ser650Tyr) c.2411C>A (p.Ser804Tyr) c.2348C>A (p.Ser783Tyr) c.2345C>A (p.Ser782Tyr) c.2303C>A (p.Ser768Tyr) c.1376C>A (p.Ser459Tyr) | |
20 | g.63406904A>C | CA409637525 | KCNQ2 | c.2413T>G (p.Ser805Ala) c.2359T>G (p.Ser787Ala) c.1756T>G (p.Ser586Ala) c.2266T>G (p.Ser756Ala) c.1927T>G (p.Ser643Ala) c.2275T>G (p.Ser759Ala) c.2241+142T>G (n.2241+142T>G) c.2205+142T>G (n.2205+142T>G) c.2305T>G (p.Ser769Ala) c.2133+142T>G (n.2133+142T>G) c.1680-6061T>G (n.1680-6061T>G) c.2401T>G (p.Ser801Ala) c.2467T>G (p.Ser823Ala) c.2464T>G (p.Ser822Ala) c.2437T>G (p.Ser813Ala) c.2383T>G (p.Ser795Ala) c.2356T>G (p.Ser786Ala) c.2341T>G (p.Ser781Ala) c.1948T>G (p.Ser650Ala) c.2410T>G (p.Ser804Ala) c.2347T>G (p.Ser783Ala) c.2344T>G (p.Ser782Ala) c.2302T>G (p.Ser768Ala) c.1375T>G (p.Ser459Ala) | |
20 | g.63406904A>G | CA409637523 | KCNQ2 | c.2413T>C (p.Ser805Pro) c.2359T>C (p.Ser787Pro) c.1756T>C (p.Ser586Pro) c.2266T>C (p.Ser756Pro) c.1927T>C (p.Ser643Pro) c.2275T>C (p.Ser759Pro) c.2241+142T>C (n.2241+142T>C) c.2205+142T>C (n.2205+142T>C) c.2305T>C (p.Ser769Pro) c.2133+142T>C (n.2133+142T>C) c.1680-6061T>C (n.1680-6061T>C) c.2401T>C (p.Ser801Pro) c.2467T>C (p.Ser823Pro) c.2464T>C (p.Ser822Pro) c.2437T>C (p.Ser813Pro) c.2383T>C (p.Ser795Pro) c.2356T>C (p.Ser786Pro) c.2341T>C (p.Ser781Pro) c.1948T>C (p.Ser650Pro) c.2410T>C (p.Ser804Pro) c.2347T>C (p.Ser783Pro) c.2344T>C (p.Ser782Pro) c.2302T>C (p.Ser768Pro) c.1375T>C (p.Ser459Pro) | |
20 | g.63406904A>T | CA409637520 | KCNQ2 | c.2413T>A (p.Ser805Thr) c.2359T>A (p.Ser787Thr) c.1756T>A (p.Ser586Thr) c.2266T>A (p.Ser756Thr) c.1927T>A (p.Ser643Thr) c.2275T>A (p.Ser759Thr) c.2241+142T>A (n.2241+142T>A) c.2205+142T>A (n.2205+142T>A) c.2305T>A (p.Ser769Thr) c.2133+142T>A (n.2133+142T>A) c.1680-6061T>A (n.1680-6061T>A) c.2401T>A (p.Ser801Thr) c.2467T>A (p.Ser823Thr) c.2464T>A (p.Ser822Thr) c.2437T>A (p.Ser813Thr) c.2383T>A (p.Ser795Thr) c.2356T>A (p.Ser786Thr) c.2341T>A (p.Ser781Thr) c.1948T>A (p.Ser650Thr) c.2410T>A (p.Ser804Thr) c.2347T>A (p.Ser783Thr) c.2344T>A (p.Ser782Thr) c.2302T>A (p.Ser768Thr) c.1375T>A (p.Ser459Thr) | |
20 | g.63406905C>A | CA511339262 | KCNQ2 | c.2412G>T (p.Thr804=) c.2358G>T (p.Thr786=) c.1755G>T (p.Thr585=) c.2265G>T (p.Thr755=) c.1926G>T (p.Thr642=) c.2274G>T (p.Thr758=) c.2241+141G>T (n.2241+141G>T) c.2205+141G>T (n.2205+141G>T) c.2304G>T (p.Thr768=) c.2133+141G>T (n.2133+141G>T) c.1680-6062G>T (n.1680-6062G>T) c.2400G>T (p.Thr800=) c.2466G>T (p.Thr822=) c.2463G>T (p.Thr821=) c.2436G>T (p.Thr812=) c.2382G>T (p.Thr794=) c.2355G>T (p.Thr785=) c.2340G>T (p.Thr780=) c.1947G>T (p.Thr649=) c.2409G>T (p.Thr803=) c.2346G>T (p.Thr782=) c.2343G>T (p.Thr781=) c.2301G>T (p.Thr767=) c.1374G>T (p.Thr458=) | gnomAD v4 |
20 | g.63406905C= | CA2374774296 | KCNQ2 | c.2412G= (p.Thr804=) c.2358G= (p.Thr786=) c.1755G= (p.Thr585=) c.2265G= (p.Thr755=) c.1926G= (p.Thr642=) c.2274G= (p.Thr758=) c.2241+141G= (n.2241+141G=) c.2205+141G= (n.2205+141G=) c.2304G= (p.Thr768=) c.2133+141G= (n.2133+141G=) c.1680-6062G= (n.1680-6062G=) c.2400G= (p.Thr800=) c.2466G= (p.Thr822=) c.2463G= (p.Thr821=) c.2436G= (p.Thr812=) c.2382G= (p.Thr794=) c.2355G= (p.Thr785=) c.2340G= (p.Thr780=) c.1947G= (p.Thr649=) c.2409G= (p.Thr803=) c.2346G= (p.Thr782=) c.2343G= (p.Thr781=) c.2301G= (p.Thr767=) c.1374G= (p.Thr458=) | |
20 | g.63406905C>G | CA511339263 | KCNQ2 | c.2412G>C (p.Thr804=) c.2358G>C (p.Thr786=) c.1755G>C (p.Thr585=) c.2265G>C (p.Thr755=) c.1926G>C (p.Thr642=) c.2274G>C (p.Thr758=) c.2241+141G>C (n.2241+141G>C) c.2205+141G>C (n.2205+141G>C) c.2304G>C (p.Thr768=) c.2133+141G>C (n.2133+141G>C) c.1680-6062G>C (n.1680-6062G>C) c.2400G>C (p.Thr800=) c.2466G>C (p.Thr822=) c.2463G>C (p.Thr821=) c.2436G>C (p.Thr812=) c.2382G>C (p.Thr794=) c.2355G>C (p.Thr785=) c.2340G>C (p.Thr780=) c.1947G>C (p.Thr649=) c.2409G>C (p.Thr803=) c.2346G>C (p.Thr782=) c.2343G>C (p.Thr781=) c.2301G>C (p.Thr767=) c.1374G>C (p.Thr458=) | |
20 | g.63406905C>T | CA240972 | KCNQ2 | c.2412G>A (p.Thr804=) c.2358G>A (p.Thr786=) c.1755G>A (p.Thr585=) c.2265G>A (p.Thr755=) c.1926G>A (p.Thr642=) c.2274G>A (p.Thr758=) c.2241+141G>A (n.2241+141G>A) c.2205+141G>A (n.2205+141G>A) c.2304G>A (p.Thr768=) c.2133+141G>A (n.2133+141G>A) c.1680-6062G>A (n.1680-6062G>A) c.2400G>A (p.Thr800=) c.2466G>A (p.Thr822=) c.2463G>A (p.Thr821=) c.2436G>A (p.Thr812=) c.2382G>A (p.Thr794=) c.2355G>A (p.Thr785=) c.2340G>A (p.Thr780=) c.1947G>A (p.Thr649=) c.2409G>A (p.Thr803=) c.2346G>A (p.Thr782=) c.2343G>A (p.Thr781=) c.2301G>A (p.Thr767=) c.1374G>A (p.Thr458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406906G>A | CA9958089 | KCNQ2 | c.2411C>T (p.Thr804Met) c.2357C>T (p.Thr786Met) c.1754C>T (p.Thr585Met) c.2264C>T (p.Thr755Met) c.1925C>T (p.Thr642Met) c.2273C>T (p.Thr758Met) c.2241+140C>T (n.2241+140C>T) c.2205+140C>T (n.2205+140C>T) c.2303C>T (p.Thr768Met) c.2133+140C>T (n.2133+140C>T) c.1680-6063C>T (n.1680-6063C>T) c.2399C>T (p.Thr800Met) c.2465C>T (p.Thr822Met) c.2462C>T (p.Thr821Met) c.2435C>T (p.Thr812Met) c.2381C>T (p.Thr794Met) c.2354C>T (p.Thr785Met) c.2339C>T (p.Thr780Met) c.1946C>T (p.Thr649Met) c.2408C>T (p.Thr803Met) c.2345C>T (p.Thr782Met) c.2342C>T (p.Thr781Met) c.2300C>T (p.Thr767Met) c.1373C>T (p.Thr458Met) | ClinVar dbSNP ExAC gnomAD v4 |
20 | g.63406906G>C | CA409637541 | KCNQ2 | c.2411C>G (p.Thr804Arg) c.2357C>G (p.Thr786Arg) c.1754C>G (p.Thr585Arg) c.2264C>G (p.Thr755Arg) c.1925C>G (p.Thr642Arg) c.2273C>G (p.Thr758Arg) c.2241+140C>G (n.2241+140C>G) c.2205+140C>G (n.2205+140C>G) c.2303C>G (p.Thr768Arg) c.2133+140C>G (n.2133+140C>G) c.1680-6063C>G (n.1680-6063C>G) c.2399C>G (p.Thr800Arg) c.2465C>G (p.Thr822Arg) c.2462C>G (p.Thr821Arg) c.2435C>G (p.Thr812Arg) c.2381C>G (p.Thr794Arg) c.2354C>G (p.Thr785Arg) c.2339C>G (p.Thr780Arg) c.1946C>G (p.Thr649Arg) c.2408C>G (p.Thr803Arg) c.2345C>G (p.Thr782Arg) c.2342C>G (p.Thr781Arg) c.2300C>G (p.Thr767Arg) c.1373C>G (p.Thr458Arg) | gnomAD v4 |
20 | g.63406906G= | CA2374774297 | KCNQ2 | c.2411C= (p.Thr804=) c.2357C= (p.Thr786=) c.1754C= (p.Thr585=) c.2264C= (p.Thr755=) c.1925C= (p.Thr642=) c.2273C= (p.Thr758=) c.2241+140C= (n.2241+140C=) c.2205+140C= (n.2205+140C=) c.2303C= (p.Thr768=) c.2133+140C= (n.2133+140C=) c.1680-6063C= (n.1680-6063C=) c.2399C= (p.Thr800=) c.2465C= (p.Thr822=) c.2462C= (p.Thr821=) c.2435C= (p.Thr812=) c.2381C= (p.Thr794=) c.2354C= (p.Thr785=) c.2339C= (p.Thr780=) c.1946C= (p.Thr649=) c.2408C= (p.Thr803=) c.2345C= (p.Thr782=) c.2342C= (p.Thr781=) c.2300C= (p.Thr767=) c.1373C= (p.Thr458=) | |
20 | g.63406906G>T | CA409637544 | KCNQ2 | c.2411C>A (p.Thr804Lys) c.2357C>A (p.Thr786Lys) c.1754C>A (p.Thr585Lys) c.2264C>A (p.Thr755Lys) c.1925C>A (p.Thr642Lys) c.2273C>A (p.Thr758Lys) c.2241+140C>A (n.2241+140C>A) c.2205+140C>A (n.2205+140C>A) c.2303C>A (p.Thr768Lys) c.2133+140C>A (n.2133+140C>A) c.1680-6063C>A (n.1680-6063C>A) c.2399C>A (p.Thr800Lys) c.2465C>A (p.Thr822Lys) c.2462C>A (p.Thr821Lys) c.2435C>A (p.Thr812Lys) c.2381C>A (p.Thr794Lys) c.2354C>A (p.Thr785Lys) c.2339C>A (p.Thr780Lys) c.1946C>A (p.Thr649Lys) c.2408C>A (p.Thr803Lys) c.2345C>A (p.Thr782Lys) c.2342C>A (p.Thr781Lys) c.2300C>A (p.Thr767Lys) c.1373C>A (p.Thr458Lys) | gnomAD v4 |
20 | g.63406907T>A | CA409637547 | KCNQ2 | c.2410A>T (p.Thr804Ser) c.2356A>T (p.Thr786Ser) c.1753A>T (p.Thr585Ser) c.2263A>T (p.Thr755Ser) c.1924A>T (p.Thr642Ser) c.2272A>T (p.Thr758Ser) c.2241+139A>T (n.2241+139A>T) c.2205+139A>T (n.2205+139A>T) c.2302A>T (p.Thr768Ser) c.2133+139A>T (n.2133+139A>T) c.1680-6064A>T (n.1680-6064A>T) c.2398A>T (p.Thr800Ser) c.2464A>T (p.Thr822Ser) c.2461A>T (p.Thr821Ser) c.2434A>T (p.Thr812Ser) c.2380A>T (p.Thr794Ser) c.2353A>T (p.Thr785Ser) c.2338A>T (p.Thr780Ser) c.1945A>T (p.Thr649Ser) c.2407A>T (p.Thr803Ser) c.2344A>T (p.Thr782Ser) c.2341A>T (p.Thr781Ser) c.2299A>T (p.Thr767Ser) c.1372A>T (p.Thr458Ser) | |
20 | g.63406907T>C | CA409637549 | KCNQ2 | c.2410A>G (p.Thr804Ala) c.2356A>G (p.Thr786Ala) c.1753A>G (p.Thr585Ala) c.2263A>G (p.Thr755Ala) c.1924A>G (p.Thr642Ala) c.2272A>G (p.Thr758Ala) c.2241+139A>G (n.2241+139A>G) c.2205+139A>G (n.2205+139A>G) c.2302A>G (p.Thr768Ala) c.2133+139A>G (n.2133+139A>G) c.1680-6064A>G (n.1680-6064A>G) c.2398A>G (p.Thr800Ala) c.2464A>G (p.Thr822Ala) c.2461A>G (p.Thr821Ala) c.2434A>G (p.Thr812Ala) c.2380A>G (p.Thr794Ala) c.2353A>G (p.Thr785Ala) c.2338A>G (p.Thr780Ala) c.1945A>G (p.Thr649Ala) c.2407A>G (p.Thr803Ala) c.2344A>G (p.Thr782Ala) c.2341A>G (p.Thr781Ala) c.2299A>G (p.Thr767Ala) c.1372A>G (p.Thr458Ala) | |
20 | g.63406907T>G | CA409637553 | KCNQ2 | c.2410A>C (p.Thr804Pro) c.2356A>C (p.Thr786Pro) c.1753A>C (p.Thr585Pro) c.2263A>C (p.Thr755Pro) c.1924A>C (p.Thr642Pro) c.2272A>C (p.Thr758Pro) c.2241+139A>C (n.2241+139A>C) c.2205+139A>C (n.2205+139A>C) c.2302A>C (p.Thr768Pro) c.2133+139A>C (n.2133+139A>C) c.1680-6064A>C (n.1680-6064A>C) c.2398A>C (p.Thr800Pro) c.2464A>C (p.Thr822Pro) c.2461A>C (p.Thr821Pro) c.2434A>C (p.Thr812Pro) c.2380A>C (p.Thr794Pro) c.2353A>C (p.Thr785Pro) c.2338A>C (p.Thr780Pro) c.1945A>C (p.Thr649Pro) c.2407A>C (p.Thr803Pro) c.2344A>C (p.Thr782Pro) c.2341A>C (p.Thr781Pro) c.2299A>C (p.Thr767Pro) c.1372A>C (p.Thr458Pro) | |
20 | g.63406908G>A | CA511339265 | KCNQ2 | c.2409C>T (p.Asp803=) c.2355C>T (p.Asp785=) c.1752C>T (p.Asp584=) c.2262C>T (p.Asp754=) c.1923C>T (p.Asp641=) c.2271C>T (p.Asp757=) c.2241+138C>T (n.2241+138C>T) c.2205+138C>T (n.2205+138C>T) c.2301C>T (p.Asp767=) c.2133+138C>T (n.2133+138C>T) c.1680-6065C>T (n.1680-6065C>T) c.2397C>T (p.Asp799=) c.2463C>T (p.Asp821=) c.2460C>T (p.Asp820=) c.2433C>T (p.Asp811=) c.2379C>T (p.Asp793=) c.2352C>T (p.Asp784=) c.2337C>T (p.Asp779=) c.1944C>T (p.Asp648=) c.2406C>T (p.Asp802=) c.2343C>T (p.Asp781=) c.2340C>T (p.Asp780=) c.2298C>T (p.Asp766=) c.1371C>T (p.Asp457=) | |
20 | g.63406908G>C | CA409637555 | KCNQ2 | c.2409C>G (p.Asp803Glu) c.2355C>G (p.Asp785Glu) c.1752C>G (p.Asp584Glu) c.2262C>G (p.Asp754Glu) c.1923C>G (p.Asp641Glu) c.2271C>G (p.Asp757Glu) c.2241+138C>G (n.2241+138C>G) c.2205+138C>G (n.2205+138C>G) c.2301C>G (p.Asp767Glu) c.2133+138C>G (n.2133+138C>G) c.1680-6065C>G (n.1680-6065C>G) c.2397C>G (p.Asp799Glu) c.2463C>G (p.Asp821Glu) c.2460C>G (p.Asp820Glu) c.2433C>G (p.Asp811Glu) c.2379C>G (p.Asp793Glu) c.2352C>G (p.Asp784Glu) c.2337C>G (p.Asp779Glu) c.1944C>G (p.Asp648Glu) c.2406C>G (p.Asp802Glu) c.2343C>G (p.Asp781Glu) c.2340C>G (p.Asp780Glu) c.2298C>G (p.Asp766Glu) c.1371C>G (p.Asp457Glu) | |
20 | g.63406908G= | CA2374774298 | KCNQ2 | c.2409C= (p.Asp803=) c.2355C= (p.Asp785=) c.1752C= (p.Asp584=) c.2262C= (p.Asp754=) c.1923C= (p.Asp641=) c.2271C= (p.Asp757=) c.2241+138C= (n.2241+138C=) c.2205+138C= (n.2205+138C=) c.2301C= (p.Asp767=) c.2133+138C= (n.2133+138C=) c.1680-6065C= (n.1680-6065C=) c.2397C= (p.Asp799=) c.2463C= (p.Asp821=) c.2460C= (p.Asp820=) c.2433C= (p.Asp811=) c.2379C= (p.Asp793=) c.2352C= (p.Asp784=) c.2337C= (p.Asp779=) c.1944C= (p.Asp648=) c.2406C= (p.Asp802=) c.2343C= (p.Asp781=) c.2340C= (p.Asp780=) c.2298C= (p.Asp766=) c.1371C= (p.Asp457=) | |
20 | g.63406908G>T | CA9958090 | KCNQ2 | c.2409C>A (p.Asp803Glu) c.2355C>A (p.Asp785Glu) c.1752C>A (p.Asp584Glu) c.2262C>A (p.Asp754Glu) c.1923C>A (p.Asp641Glu) c.2271C>A (p.Asp757Glu) c.2241+138C>A (n.2241+138C>A) c.2205+138C>A (n.2205+138C>A) c.2301C>A (p.Asp767Glu) c.2133+138C>A (n.2133+138C>A) c.1680-6065C>A (n.1680-6065C>A) c.2397C>A (p.Asp799Glu) c.2463C>A (p.Asp821Glu) c.2460C>A (p.Asp820Glu) c.2433C>A (p.Asp811Glu) c.2379C>A (p.Asp793Glu) c.2352C>A (p.Asp784Glu) c.2337C>A (p.Asp779Glu) c.1944C>A (p.Asp648Glu) c.2406C>A (p.Asp802Glu) c.2343C>A (p.Asp781Glu) c.2340C>A (p.Asp780Glu) c.2298C>A (p.Asp766Glu) c.1371C>A (p.Asp457Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406909T>A | CA409637561 | KCNQ2 | c.2408A>T (p.Asp803Val) c.2354A>T (p.Asp785Val) c.1751A>T (p.Asp584Val) c.2261A>T (p.Asp754Val) c.1922A>T (p.Asp641Val) c.2270A>T (p.Asp757Val) c.2241+137A>T (n.2241+137A>T) c.2205+137A>T (n.2205+137A>T) c.2300A>T (p.Asp767Val) c.2133+137A>T (n.2133+137A>T) c.1680-6066A>T (n.1680-6066A>T) c.2396A>T (p.Asp799Val) c.2462A>T (p.Asp821Val) c.2459A>T (p.Asp820Val) c.2432A>T (p.Asp811Val) c.2378A>T (p.Asp793Val) c.2351A>T (p.Asp784Val) c.2336A>T (p.Asp779Val) c.1943A>T (p.Asp648Val) c.2405A>T (p.Asp802Val) c.2342A>T (p.Asp781Val) c.2339A>T (p.Asp780Val) c.2297A>T (p.Asp766Val) c.1370A>T (p.Asp457Val) | |
20 | g.63406909T>C | CA409637563 | KCNQ2 | c.2408A>G (p.Asp803Gly) c.2354A>G (p.Asp785Gly) c.1751A>G (p.Asp584Gly) c.2261A>G (p.Asp754Gly) c.1922A>G (p.Asp641Gly) c.2270A>G (p.Asp757Gly) c.2241+137A>G (n.2241+137A>G) c.2205+137A>G (n.2205+137A>G) c.2300A>G (p.Asp767Gly) c.2133+137A>G (n.2133+137A>G) c.1680-6066A>G (n.1680-6066A>G) c.2396A>G (p.Asp799Gly) c.2462A>G (p.Asp821Gly) c.2459A>G (p.Asp820Gly) c.2432A>G (p.Asp811Gly) c.2378A>G (p.Asp793Gly) c.2351A>G (p.Asp784Gly) c.2336A>G (p.Asp779Gly) c.1943A>G (p.Asp648Gly) c.2405A>G (p.Asp802Gly) c.2342A>G (p.Asp781Gly) c.2339A>G (p.Asp780Gly) c.2297A>G (p.Asp766Gly) c.1370A>G (p.Asp457Gly) | |
20 | g.63406909T>G | CA409637567 | KCNQ2 | c.2408A>C (p.Asp803Ala) c.2354A>C (p.Asp785Ala) c.1751A>C (p.Asp584Ala) c.2261A>C (p.Asp754Ala) c.1922A>C (p.Asp641Ala) c.2270A>C (p.Asp757Ala) c.2241+137A>C (n.2241+137A>C) c.2205+137A>C (n.2205+137A>C) c.2300A>C (p.Asp767Ala) c.2133+137A>C (n.2133+137A>C) c.1680-6066A>C (n.1680-6066A>C) c.2396A>C (p.Asp799Ala) c.2462A>C (p.Asp821Ala) c.2459A>C (p.Asp820Ala) c.2432A>C (p.Asp811Ala) c.2378A>C (p.Asp793Ala) c.2351A>C (p.Asp784Ala) c.2336A>C (p.Asp779Ala) c.1943A>C (p.Asp648Ala) c.2405A>C (p.Asp802Ala) c.2342A>C (p.Asp781Ala) c.2339A>C (p.Asp780Ala) c.2297A>C (p.Asp766Ala) c.1370A>C (p.Asp457Ala) | |
20 | g.63406910C>A | CA409637570 | KCNQ2 | c.2407G>T (p.Asp803Tyr) c.2353G>T (p.Asp785Tyr) c.1750G>T (p.Asp584Tyr) c.2260G>T (p.Asp754Tyr) c.1921G>T (p.Asp641Tyr) c.2269G>T (p.Asp757Tyr) c.2241+136G>T (n.2241+136G>T) c.2205+136G>T (n.2205+136G>T) c.2299G>T (p.Asp767Tyr) c.2133+136G>T (n.2133+136G>T) c.1680-6067G>T (n.1680-6067G>T) c.2395G>T (p.Asp799Tyr) c.2461G>T (p.Asp821Tyr) c.2458G>T (p.Asp820Tyr) c.2431G>T (p.Asp811Tyr) c.2377G>T (p.Asp793Tyr) c.2350G>T (p.Asp784Tyr) c.2335G>T (p.Asp779Tyr) c.1942G>T (p.Asp648Tyr) c.2404G>T (p.Asp802Tyr) c.2341G>T (p.Asp781Tyr) c.2338G>T (p.Asp780Tyr) c.2296G>T (p.Asp766Tyr) c.1369G>T (p.Asp457Tyr) | |
20 | g.63406910C= | CA2374774299 | KCNQ2 | c.2407G= (p.Asp803=) c.2353G= (p.Asp785=) c.1750G= (p.Asp584=) c.2260G= (p.Asp754=) c.1921G= (p.Asp641=) c.2269G= (p.Asp757=) c.2241+136G= (n.2241+136G=) c.2205+136G= (n.2205+136G=) c.2299G= (p.Asp767=) c.2133+136G= (n.2133+136G=) c.1680-6067G= (n.1680-6067G=) c.2395G= (p.Asp799=) c.2461G= (p.Asp821=) c.2458G= (p.Asp820=) c.2431G= (p.Asp811=) c.2377G= (p.Asp793=) c.2350G= (p.Asp784=) c.2335G= (p.Asp779=) c.1942G= (p.Asp648=) c.2404G= (p.Asp802=) c.2341G= (p.Asp781=) c.2338G= (p.Asp780=) c.2296G= (p.Asp766=) c.1369G= (p.Asp457=) | |
20 | g.63406910C>G | CA409637577 | KCNQ2 | c.2407G>C (p.Asp803His) c.2353G>C (p.Asp785His) c.1750G>C (p.Asp584His) c.2260G>C (p.Asp754His) c.1921G>C (p.Asp641His) c.2269G>C (p.Asp757His) c.2241+136G>C (n.2241+136G>C) c.2205+136G>C (n.2205+136G>C) c.2299G>C (p.Asp767His) c.2133+136G>C (n.2133+136G>C) c.1680-6067G>C (n.1680-6067G>C) c.2395G>C (p.Asp799His) c.2461G>C (p.Asp821His) c.2458G>C (p.Asp820His) c.2431G>C (p.Asp811His) c.2377G>C (p.Asp793His) c.2350G>C (p.Asp784His) c.2335G>C (p.Asp779His) c.1942G>C (p.Asp648His) c.2404G>C (p.Asp802His) c.2341G>C (p.Asp781His) c.2338G>C (p.Asp780His) c.2296G>C (p.Asp766His) c.1369G>C (p.Asp457His) | |
20 | g.63406910C>T | CA409637574 | KCNQ2 | c.2407G>A (p.Asp803Asn) c.2353G>A (p.Asp785Asn) c.1750G>A (p.Asp584Asn) c.2260G>A (p.Asp754Asn) c.1921G>A (p.Asp641Asn) c.2269G>A (p.Asp757Asn) c.2241+136G>A (n.2241+136G>A) c.2205+136G>A (n.2205+136G>A) c.2299G>A (p.Asp767Asn) c.2133+136G>A (n.2133+136G>A) c.1680-6067G>A (n.1680-6067G>A) c.2395G>A (p.Asp799Asn) c.2461G>A (p.Asp821Asn) c.2458G>A (p.Asp820Asn) c.2431G>A (p.Asp811Asn) c.2377G>A (p.Asp793Asn) c.2350G>A (p.Asp784Asn) c.2335G>A (p.Asp779Asn) c.1942G>A (p.Asp648Asn) c.2404G>A (p.Asp802Asn) c.2341G>A (p.Asp781Asn) c.2338G>A (p.Asp780Asn) c.2296G>A (p.Asp766Asn) c.1369G>A (p.Asp457Asn) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406911G>A | CA9958091 | KCNQ2 | c.2406C>T (p.Ser802=) c.2352C>T (p.Ser784=) c.1749C>T (p.Ser583=) c.2259C>T (p.Ser753=) c.1920C>T (p.Ser640=) c.2268C>T (p.Ser756=) c.2241+135C>T (n.2241+135C>T) c.2205+135C>T (n.2205+135C>T) c.2298C>T (p.Ser766=) c.2133+135C>T (n.2133+135C>T) c.1680-6068C>T (n.1680-6068C>T) c.2394C>T (p.Ser798=) c.2460C>T (p.Ser820=) c.2457C>T (p.Ser819=) c.2430C>T (p.Ser810=) c.2376C>T (p.Ser792=) c.2349C>T (p.Ser783=) c.2334C>T (p.Ser778=) c.1941C>T (p.Ser647=) c.2403C>T (p.Ser801=) c.2340C>T (p.Ser780=) c.2337C>T (p.Ser779=) c.2295C>T (p.Ser765=) c.1368C>T (p.Ser456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406911G>C | CA409637586 | KCNQ2 | c.2406C>G (p.Ser802Arg) c.2352C>G (p.Ser784Arg) c.1749C>G (p.Ser583Arg) c.2259C>G (p.Ser753Arg) c.1920C>G (p.Ser640Arg) c.2268C>G (p.Ser756Arg) c.2241+135C>G (n.2241+135C>G) c.2205+135C>G (n.2205+135C>G) c.2298C>G (p.Ser766Arg) c.2133+135C>G (n.2133+135C>G) c.1680-6068C>G (n.1680-6068C>G) c.2394C>G (p.Ser798Arg) c.2460C>G (p.Ser820Arg) c.2457C>G (p.Ser819Arg) c.2430C>G (p.Ser810Arg) c.2376C>G (p.Ser792Arg) c.2349C>G (p.Ser783Arg) c.2334C>G (p.Ser778Arg) c.1941C>G (p.Ser647Arg) c.2403C>G (p.Ser801Arg) c.2340C>G (p.Ser780Arg) c.2337C>G (p.Ser779Arg) c.2295C>G (p.Ser765Arg) c.1368C>G (p.Ser456Arg) | |
20 | g.63406911G= | CA2374774300 | KCNQ2 | c.2406C= (p.Ser802=) c.2352C= (p.Ser784=) c.1749C= (p.Ser583=) c.2259C= (p.Ser753=) c.1920C= (p.Ser640=) c.2268C= (p.Ser756=) c.2241+135C= (n.2241+135C=) c.2205+135C= (n.2205+135C=) c.2298C= (p.Ser766=) c.2133+135C= (n.2133+135C=) c.1680-6068C= (n.1680-6068C=) c.2394C= (p.Ser798=) c.2460C= (p.Ser820=) c.2457C= (p.Ser819=) c.2430C= (p.Ser810=) c.2376C= (p.Ser792=) c.2349C= (p.Ser783=) c.2334C= (p.Ser778=) c.1941C= (p.Ser647=) c.2403C= (p.Ser801=) c.2340C= (p.Ser780=) c.2337C= (p.Ser779=) c.2295C= (p.Ser765=) c.1368C= (p.Ser456=) | |
20 | g.63406911G>T | CA409637581 | KCNQ2 | c.2406C>A (p.Ser802Arg) c.2352C>A (p.Ser784Arg) c.1749C>A (p.Ser583Arg) c.2259C>A (p.Ser753Arg) c.1920C>A (p.Ser640Arg) c.2268C>A (p.Ser756Arg) c.2241+135C>A (n.2241+135C>A) c.2205+135C>A (n.2205+135C>A) c.2298C>A (p.Ser766Arg) c.2133+135C>A (n.2133+135C>A) c.1680-6068C>A (n.1680-6068C>A) c.2394C>A (p.Ser798Arg) c.2460C>A (p.Ser820Arg) c.2457C>A (p.Ser819Arg) c.2430C>A (p.Ser810Arg) c.2376C>A (p.Ser792Arg) c.2349C>A (p.Ser783Arg) c.2334C>A (p.Ser778Arg) c.1941C>A (p.Ser647Arg) c.2403C>A (p.Ser801Arg) c.2340C>A (p.Ser780Arg) c.2337C>A (p.Ser779Arg) c.2295C>A (p.Ser765Arg) c.1368C>A (p.Ser456Arg) | gnomAD v4 |
20 | g.63406912C>A | CA409637588 | KCNQ2 | c.2405G>T (p.Ser802Ile) c.2351G>T (p.Ser784Ile) c.1748G>T (p.Ser583Ile) c.2258G>T (p.Ser753Ile) c.1919G>T (p.Ser640Ile) c.2267G>T (p.Ser756Ile) c.2241+134G>T (n.2241+134G>T) c.2205+134G>T (n.2205+134G>T) c.2297G>T (p.Ser766Ile) c.2133+134G>T (n.2133+134G>T) c.1680-6069G>T (n.1680-6069G>T) c.2393G>T (p.Ser798Ile) c.2459G>T (p.Ser820Ile) c.2456G>T (p.Ser819Ile) c.2429G>T (p.Ser810Ile) c.2375G>T (p.Ser792Ile) c.2348G>T (p.Ser783Ile) c.2333G>T (p.Ser778Ile) c.1940G>T (p.Ser647Ile) c.2402G>T (p.Ser801Ile) c.2339G>T (p.Ser780Ile) c.2336G>T (p.Ser779Ile) c.2294G>T (p.Ser765Ile) c.1367G>T (p.Ser456Ile) | gnomAD v4 |
20 | g.63406912C>G | CA409637592 | KCNQ2 | c.2405G>C (p.Ser802Thr) c.2351G>C (p.Ser784Thr) c.1748G>C (p.Ser583Thr) c.2258G>C (p.Ser753Thr) c.1919G>C (p.Ser640Thr) c.2267G>C (p.Ser756Thr) c.2241+134G>C (n.2241+134G>C) c.2205+134G>C (n.2205+134G>C) c.2297G>C (p.Ser766Thr) c.2133+134G>C (n.2133+134G>C) c.1680-6069G>C (n.1680-6069G>C) c.2393G>C (p.Ser798Thr) c.2459G>C (p.Ser820Thr) c.2456G>C (p.Ser819Thr) c.2429G>C (p.Ser810Thr) c.2375G>C (p.Ser792Thr) c.2348G>C (p.Ser783Thr) c.2333G>C (p.Ser778Thr) c.1940G>C (p.Ser647Thr) c.2402G>C (p.Ser801Thr) c.2339G>C (p.Ser780Thr) c.2336G>C (p.Ser779Thr) c.2294G>C (p.Ser765Thr) c.1367G>C (p.Ser456Thr) | |
20 | g.63406912C>T | CA409637590 | KCNQ2 | c.2405G>A (p.Ser802Asn) c.2351G>A (p.Ser784Asn) c.1748G>A (p.Ser583Asn) c.2258G>A (p.Ser753Asn) c.1919G>A (p.Ser640Asn) c.2267G>A (p.Ser756Asn) c.2241+134G>A (n.2241+134G>A) c.2205+134G>A (n.2205+134G>A) c.2297G>A (p.Ser766Asn) c.2133+134G>A (n.2133+134G>A) c.1680-6069G>A (n.1680-6069G>A) c.2393G>A (p.Ser798Asn) c.2459G>A (p.Ser820Asn) c.2456G>A (p.Ser819Asn) c.2429G>A (p.Ser810Asn) c.2375G>A (p.Ser792Asn) c.2348G>A (p.Ser783Asn) c.2333G>A (p.Ser778Asn) c.1940G>A (p.Ser647Asn) c.2402G>A (p.Ser801Asn) c.2339G>A (p.Ser780Asn) c.2336G>A (p.Ser779Asn) c.2294G>A (p.Ser765Asn) c.1367G>A (p.Ser456Asn) | |
20 | g.63406913T>A | CA409637596 | KCNQ2 | c.2404A>T (p.Ser802Cys) c.2350A>T (p.Ser784Cys) c.1747A>T (p.Ser583Cys) c.2257A>T (p.Ser753Cys) c.1918A>T (p.Ser640Cys) c.2266A>T (p.Ser756Cys) c.2241+133A>T (n.2241+133A>T) c.2205+133A>T (n.2205+133A>T) c.2296A>T (p.Ser766Cys) c.2133+133A>T (n.2133+133A>T) c.1680-6070A>T (n.1680-6070A>T) c.2392A>T (p.Ser798Cys) c.2458A>T (p.Ser820Cys) c.2455A>T (p.Ser819Cys) c.2428A>T (p.Ser810Cys) c.2374A>T (p.Ser792Cys) c.2347A>T (p.Ser783Cys) c.2332A>T (p.Ser778Cys) c.1939A>T (p.Ser647Cys) c.2401A>T (p.Ser801Cys) c.2338A>T (p.Ser780Cys) c.2335A>T (p.Ser779Cys) c.2293A>T (p.Ser765Cys) c.1366A>T (p.Ser456Cys) | |
20 | g.63406913T>C | CA409637602 | KCNQ2 | c.2404A>G (p.Ser802Gly) c.2350A>G (p.Ser784Gly) c.1747A>G (p.Ser583Gly) c.2257A>G (p.Ser753Gly) c.1918A>G (p.Ser640Gly) c.2266A>G (p.Ser756Gly) c.2241+133A>G (n.2241+133A>G) c.2205+133A>G (n.2205+133A>G) c.2296A>G (p.Ser766Gly) c.2133+133A>G (n.2133+133A>G) c.1680-6070A>G (n.1680-6070A>G) c.2392A>G (p.Ser798Gly) c.2458A>G (p.Ser820Gly) c.2455A>G (p.Ser819Gly) c.2428A>G (p.Ser810Gly) c.2374A>G (p.Ser792Gly) c.2347A>G (p.Ser783Gly) c.2332A>G (p.Ser778Gly) c.1939A>G (p.Ser647Gly) c.2401A>G (p.Ser801Gly) c.2338A>G (p.Ser780Gly) c.2335A>G (p.Ser779Gly) c.2293A>G (p.Ser765Gly) c.1366A>G (p.Ser456Gly) | |
20 | g.63406913T>G | CA409637599 | KCNQ2 | c.2404A>C (p.Ser802Arg) c.2350A>C (p.Ser784Arg) c.1747A>C (p.Ser583Arg) c.2257A>C (p.Ser753Arg) c.1918A>C (p.Ser640Arg) c.2266A>C (p.Ser756Arg) c.2241+133A>C (n.2241+133A>C) c.2205+133A>C (n.2205+133A>C) c.2296A>C (p.Ser766Arg) c.2133+133A>C (n.2133+133A>C) c.1680-6070A>C (n.1680-6070A>C) c.2392A>C (p.Ser798Arg) c.2458A>C (p.Ser820Arg) c.2455A>C (p.Ser819Arg) c.2428A>C (p.Ser810Arg) c.2374A>C (p.Ser792Arg) c.2347A>C (p.Ser783Arg) c.2332A>C (p.Ser778Arg) c.1939A>C (p.Ser647Arg) c.2401A>C (p.Ser801Arg) c.2338A>C (p.Ser780Arg) c.2335A>C (p.Ser779Arg) c.2293A>C (p.Ser765Arg) c.1366A>C (p.Ser456Arg) | |
20 | g.63406914G>A | CA511339268 | KCNQ2 | c.2403C>T (p.Asp801=) c.2349C>T (p.Asp783=) c.1746C>T (p.Asp582=) c.2256C>T (p.Asp752=) c.1917C>T (p.Asp639=) c.2265C>T (p.Asp755=) c.2241+132C>T (n.2241+132C>T) c.2205+132C>T (n.2205+132C>T) c.2295C>T (p.Asp765=) c.2133+132C>T (n.2133+132C>T) c.1680-6071C>T (n.1680-6071C>T) c.2391C>T (p.Asp797=) c.2457C>T (p.Asp819=) c.2454C>T (p.Asp818=) c.2427C>T (p.Asp809=) c.2373C>T (p.Asp791=) c.2346C>T (p.Asp782=) c.2331C>T (p.Asp777=) c.1938C>T (p.Asp646=) c.2400C>T (p.Asp800=) c.2337C>T (p.Asp779=) c.2334C>T (p.Asp778=) c.2292C>T (p.Asp764=) c.1365C>T (p.Asp455=) | |
20 | g.63406914G>C | CA409637604 | KCNQ2 | c.2403C>G (p.Asp801Glu) c.2349C>G (p.Asp783Glu) c.1746C>G (p.Asp582Glu) c.2256C>G (p.Asp752Glu) c.1917C>G (p.Asp639Glu) c.2265C>G (p.Asp755Glu) c.2241+132C>G (n.2241+132C>G) c.2205+132C>G (n.2205+132C>G) c.2295C>G (p.Asp765Glu) c.2133+132C>G (n.2133+132C>G) c.1680-6071C>G (n.1680-6071C>G) c.2391C>G (p.Asp797Glu) c.2457C>G (p.Asp819Glu) c.2454C>G (p.Asp818Glu) c.2427C>G (p.Asp809Glu) c.2373C>G (p.Asp791Glu) c.2346C>G (p.Asp782Glu) c.2331C>G (p.Asp777Glu) c.1938C>G (p.Asp646Glu) c.2400C>G (p.Asp800Glu) c.2337C>G (p.Asp779Glu) c.2334C>G (p.Asp778Glu) c.2292C>G (p.Asp764Glu) c.1365C>G (p.Asp455Glu) | gnomAD v4 |
20 | g.63406914G= | CA2374774301 | KCNQ2 | c.2403C= (p.Asp801=) c.2349C= (p.Asp783=) c.1746C= (p.Asp582=) c.2256C= (p.Asp752=) c.1917C= (p.Asp639=) c.2265C= (p.Asp755=) c.2241+132C= (n.2241+132C=) c.2205+132C= (n.2205+132C=) c.2295C= (p.Asp765=) c.2133+132C= (n.2133+132C=) c.1680-6071C= (n.1680-6071C=) c.2391C= (p.Asp797=) c.2457C= (p.Asp819=) c.2454C= (p.Asp818=) c.2427C= (p.Asp809=) c.2373C= (p.Asp791=) c.2346C= (p.Asp782=) c.2331C= (p.Asp777=) c.1938C= (p.Asp646=) c.2400C= (p.Asp800=) c.2337C= (p.Asp779=) c.2334C= (p.Asp778=) c.2292C= (p.Asp764=) c.1365C= (p.Asp455=) | |
20 | g.63406914G>T | CA409637606 | KCNQ2 | c.2403C>A (p.Asp801Glu) c.2349C>A (p.Asp783Glu) c.1746C>A (p.Asp582Glu) c.2256C>A (p.Asp752Glu) c.1917C>A (p.Asp639Glu) c.2265C>A (p.Asp755Glu) c.2241+132C>A (n.2241+132C>A) c.2205+132C>A (n.2205+132C>A) c.2295C>A (p.Asp765Glu) c.2133+132C>A (n.2133+132C>A) c.1680-6071C>A (n.1680-6071C>A) c.2391C>A (p.Asp797Glu) c.2457C>A (p.Asp819Glu) c.2454C>A (p.Asp818Glu) c.2427C>A (p.Asp809Glu) c.2373C>A (p.Asp791Glu) c.2346C>A (p.Asp782Glu) c.2331C>A (p.Asp777Glu) c.1938C>A (p.Asp646Glu) c.2400C>A (p.Asp800Glu) c.2337C>A (p.Asp779Glu) c.2334C>A (p.Asp778Glu) c.2292C>A (p.Asp764Glu) c.1365C>A (p.Asp455Glu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406915T>A | CA409637609 | KCNQ2 | c.2402A>T (p.Asp801Val) c.2348A>T (p.Asp783Val) c.1745A>T (p.Asp582Val) c.2255A>T (p.Asp752Val) c.1916A>T (p.Asp639Val) c.2264A>T (p.Asp755Val) c.2241+131A>T (n.2241+131A>T) c.2205+131A>T (n.2205+131A>T) c.2294A>T (p.Asp765Val) c.2133+131A>T (n.2133+131A>T) c.1680-6072A>T (n.1680-6072A>T) c.2390A>T (p.Asp797Val) c.2456A>T (p.Asp819Val) c.2453A>T (p.Asp818Val) c.2426A>T (p.Asp809Val) c.2372A>T (p.Asp791Val) c.2345A>T (p.Asp782Val) c.2330A>T (p.Asp777Val) c.1937A>T (p.Asp646Val) c.2399A>T (p.Asp800Val) c.2336A>T (p.Asp779Val) c.2333A>T (p.Asp778Val) c.2291A>T (p.Asp764Val) c.1364A>T (p.Asp455Val) | |
20 | g.63406915T>C | CA409637615 | KCNQ2 | c.2402A>G (p.Asp801Gly) c.2348A>G (p.Asp783Gly) c.1745A>G (p.Asp582Gly) c.2255A>G (p.Asp752Gly) c.1916A>G (p.Asp639Gly) c.2264A>G (p.Asp755Gly) c.2241+131A>G (n.2241+131A>G) c.2205+131A>G (n.2205+131A>G) c.2294A>G (p.Asp765Gly) c.2133+131A>G (n.2133+131A>G) c.1680-6072A>G (n.1680-6072A>G) c.2390A>G (p.Asp797Gly) c.2456A>G (p.Asp819Gly) c.2453A>G (p.Asp818Gly) c.2426A>G (p.Asp809Gly) c.2372A>G (p.Asp791Gly) c.2345A>G (p.Asp782Gly) c.2330A>G (p.Asp777Gly) c.1937A>G (p.Asp646Gly) c.2399A>G (p.Asp800Gly) c.2336A>G (p.Asp779Gly) c.2333A>G (p.Asp778Gly) c.2291A>G (p.Asp764Gly) c.1364A>G (p.Asp455Gly) | ClinVar |
20 | g.63406915T>G | CA409637611 | KCNQ2 | c.2402A>C (p.Asp801Ala) c.2348A>C (p.Asp783Ala) c.1745A>C (p.Asp582Ala) c.2255A>C (p.Asp752Ala) c.1916A>C (p.Asp639Ala) c.2264A>C (p.Asp755Ala) c.2241+131A>C (n.2241+131A>C) c.2205+131A>C (n.2205+131A>C) c.2294A>C (p.Asp765Ala) c.2133+131A>C (n.2133+131A>C) c.1680-6072A>C (n.1680-6072A>C) c.2390A>C (p.Asp797Ala) c.2456A>C (p.Asp819Ala) c.2453A>C (p.Asp818Ala) c.2426A>C (p.Asp809Ala) c.2372A>C (p.Asp791Ala) c.2345A>C (p.Asp782Ala) c.2330A>C (p.Asp777Ala) c.1937A>C (p.Asp646Ala) c.2399A>C (p.Asp800Ala) c.2336A>C (p.Asp779Ala) c.2333A>C (p.Asp778Ala) c.2291A>C (p.Asp764Ala) c.1364A>C (p.Asp455Ala) | |
20 | g.63406916C>A | CA409637617 | KCNQ2 | c.2401G>T (p.Asp801Tyr) c.2347G>T (p.Asp783Tyr) c.1744G>T (p.Asp582Tyr) c.2254G>T (p.Asp752Tyr) c.1915G>T (p.Asp639Tyr) c.2263G>T (p.Asp755Tyr) c.2241+130G>T (n.2241+130G>T) c.2205+130G>T (n.2205+130G>T) c.2293G>T (p.Asp765Tyr) c.2133+130G>T (n.2133+130G>T) c.1680-6073G>T (n.1680-6073G>T) c.2389G>T (p.Asp797Tyr) c.2455G>T (p.Asp819Tyr) c.2452G>T (p.Asp818Tyr) c.2425G>T (p.Asp809Tyr) c.2371G>T (p.Asp791Tyr) c.2344G>T (p.Asp782Tyr) c.2329G>T (p.Asp777Tyr) c.1936G>T (p.Asp646Tyr) c.2398G>T (p.Asp800Tyr) c.2335G>T (p.Asp779Tyr) c.2332G>T (p.Asp778Tyr) c.2290G>T (p.Asp764Tyr) c.1363G>T (p.Asp455Tyr) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406916C>G | CA409637618 | KCNQ2 | c.2401G>C (p.Asp801His) c.2347G>C (p.Asp783His) c.1744G>C (p.Asp582His) c.2254G>C (p.Asp752His) c.1915G>C (p.Asp639His) c.2263G>C (p.Asp755His) c.2241+130G>C (n.2241+130G>C) c.2205+130G>C (n.2205+130G>C) c.2293G>C (p.Asp765His) c.2133+130G>C (n.2133+130G>C) c.1680-6073G>C (n.1680-6073G>C) c.2389G>C (p.Asp797His) c.2455G>C (p.Asp819His) c.2452G>C (p.Asp818His) c.2425G>C (p.Asp809His) c.2371G>C (p.Asp791His) c.2344G>C (p.Asp782His) c.2329G>C (p.Asp777His) c.1936G>C (p.Asp646His) c.2398G>C (p.Asp800His) c.2335G>C (p.Asp779His) c.2332G>C (p.Asp778His) c.2290G>C (p.Asp764His) c.1363G>C (p.Asp455His) | |
20 | g.63406916C>T | CA409637626 | KCNQ2 | c.2401G>A (p.Asp801Asn) c.2347G>A (p.Asp783Asn) c.1744G>A (p.Asp582Asn) c.2254G>A (p.Asp752Asn) c.1915G>A (p.Asp639Asn) c.2263G>A (p.Asp755Asn) c.2241+130G>A (n.2241+130G>A) c.2205+130G>A (n.2205+130G>A) c.2293G>A (p.Asp765Asn) c.2133+130G>A (n.2133+130G>A) c.1680-6073G>A (n.1680-6073G>A) c.2389G>A (p.Asp797Asn) c.2455G>A (p.Asp819Asn) c.2452G>A (p.Asp818Asn) c.2425G>A (p.Asp809Asn) c.2371G>A (p.Asp791Asn) c.2344G>A (p.Asp782Asn) c.2329G>A (p.Asp777Asn) c.1936G>A (p.Asp646Asn) c.2398G>A (p.Asp800Asn) c.2335G>A (p.Asp779Asn) c.2332G>A (p.Asp778Asn) c.2290G>A (p.Asp764Asn) c.1363G>A (p.Asp455Asn) | COSMIC COSMIC COSMIC |
20 | g.63406917C>A | CA511339270 | KCNQ2 | c.2400G>T (p.Arg800=) c.2346G>T (p.Arg782=) c.1743G>T (p.Arg581=) c.2253G>T (p.Arg751=) c.1914G>T (p.Arg638=) c.2262G>T (p.Arg754=) c.2241+129G>T (n.2241+129G>T) c.2205+129G>T (n.2205+129G>T) c.2292G>T (p.Arg764=) c.2133+129G>T (n.2133+129G>T) c.1680-6074G>T (n.1680-6074G>T) c.2388G>T (p.Arg796=) c.2454G>T (p.Arg818=) c.2451G>T (p.Arg817=) c.2424G>T (p.Arg808=) c.2370G>T (p.Arg790=) c.2343G>T (p.Arg781=) c.2328G>T (p.Arg776=) c.1935G>T (p.Arg645=) c.2397G>T (p.Arg799=) c.2334G>T (p.Arg778=) c.2331G>T (p.Arg777=) c.2289G>T (p.Arg763=) c.1362G>T (p.Arg454=) | gnomAD v4 |
20 | g.63406917C= | CA2374774302 | KCNQ2 | c.2400G= (p.Arg800=) c.2346G= (p.Arg782=) c.1743G= (p.Arg581=) c.2253G= (p.Arg751=) c.1914G= (p.Arg638=) c.2262G= (p.Arg754=) c.2241+129G= (n.2241+129G=) c.2205+129G= (n.2205+129G=) c.2292G= (p.Arg764=) c.2133+129G= (n.2133+129G=) c.1680-6074G= (n.1680-6074G=) c.2388G= (p.Arg796=) c.2454G= (p.Arg818=) c.2451G= (p.Arg817=) c.2424G= (p.Arg808=) c.2370G= (p.Arg790=) c.2343G= (p.Arg781=) c.2328G= (p.Arg776=) c.1935G= (p.Arg645=) c.2397G= (p.Arg799=) c.2334G= (p.Arg778=) c.2331G= (p.Arg777=) c.2289G= (p.Arg763=) c.1362G= (p.Arg454=) | |
20 | g.63406917C>G | CA511339271 | KCNQ2 | c.2400G>C (p.Arg800=) c.2346G>C (p.Arg782=) c.1743G>C (p.Arg581=) c.2253G>C (p.Arg751=) c.1914G>C (p.Arg638=) c.2262G>C (p.Arg754=) c.2241+129G>C (n.2241+129G>C) c.2205+129G>C (n.2205+129G>C) c.2292G>C (p.Arg764=) c.2133+129G>C (n.2133+129G>C) c.1680-6074G>C (n.1680-6074G>C) c.2388G>C (p.Arg796=) c.2454G>C (p.Arg818=) c.2451G>C (p.Arg817=) c.2424G>C (p.Arg808=) c.2370G>C (p.Arg790=) c.2343G>C (p.Arg781=) c.2328G>C (p.Arg776=) c.1935G>C (p.Arg645=) c.2397G>C (p.Arg799=) c.2334G>C (p.Arg778=) c.2331G>C (p.Arg777=) c.2289G>C (p.Arg763=) c.1362G>C (p.Arg454=) | dbSNP gnomAD v2 |
20 | g.63406917C>T | CA511339272 | KCNQ2 | c.2400G>A (p.Arg800=) c.2346G>A (p.Arg782=) c.1743G>A (p.Arg581=) c.2253G>A (p.Arg751=) c.1914G>A (p.Arg638=) c.2262G>A (p.Arg754=) c.2241+129G>A (n.2241+129G>A) c.2205+129G>A (n.2205+129G>A) c.2292G>A (p.Arg764=) c.2133+129G>A (n.2133+129G>A) c.1680-6074G>A (n.1680-6074G>A) c.2388G>A (p.Arg796=) c.2454G>A (p.Arg818=) c.2451G>A (p.Arg817=) c.2424G>A (p.Arg808=) c.2370G>A (p.Arg790=) c.2343G>A (p.Arg781=) c.2328G>A (p.Arg776=) c.1935G>A (p.Arg645=) c.2397G>A (p.Arg799=) c.2334G>A (p.Arg778=) c.2331G>A (p.Arg777=) c.2289G>A (p.Arg763=) c.1362G>A (p.Arg454=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406918C>A | CA9958092 | KCNQ2 | c.2399G>T (p.Arg800Leu) c.2345G>T (p.Arg782Leu) c.1742G>T (p.Arg581Leu) c.2252G>T (p.Arg751Leu) c.1913G>T (p.Arg638Leu) c.2261G>T (p.Arg754Leu) c.2241+128G>T (n.2241+128G>T) c.2205+128G>T (n.2205+128G>T) c.2291G>T (p.Arg764Leu) c.2133+128G>T (n.2133+128G>T) c.1680-6075G>T (n.1680-6075G>T) c.2387G>T (p.Arg796Leu) c.2453G>T (p.Arg818Leu) c.2450G>T (p.Arg817Leu) c.2423G>T (p.Arg808Leu) c.2369G>T (p.Arg790Leu) c.2342G>T (p.Arg781Leu) c.2327G>T (p.Arg776Leu) c.1934G>T (p.Arg645Leu) c.2396G>T (p.Arg799Leu) c.2333G>T (p.Arg778Leu) c.2330G>T (p.Arg777Leu) c.2288G>T (p.Arg763Leu) c.1361G>T (p.Arg454Leu) | dbSNP ExAC gnomAD v4 |
20 | g.63406918C= | CA2374774303 | KCNQ2 | c.2399G= (p.Arg800=) c.2345G= (p.Arg782=) c.1742G= (p.Arg581=) c.2252G= (p.Arg751=) c.1913G= (p.Arg638=) c.2261G= (p.Arg754=) c.2241+128G= (n.2241+128G=) c.2205+128G= (n.2205+128G=) c.2291G= (p.Arg764=) c.2133+128G= (n.2133+128G=) c.1680-6075G= (n.1680-6075G=) c.2387G= (p.Arg796=) c.2453G= (p.Arg818=) c.2450G= (p.Arg817=) c.2423G= (p.Arg808=) c.2369G= (p.Arg790=) c.2342G= (p.Arg781=) c.2327G= (p.Arg776=) c.1934G= (p.Arg645=) c.2396G= (p.Arg799=) c.2333G= (p.Arg778=) c.2330G= (p.Arg777=) c.2288G= (p.Arg763=) c.1361G= (p.Arg454=) | |
20 | g.63406918C>G | CA409637632 | KCNQ2 | c.2399G>C (p.Arg800Pro) c.2345G>C (p.Arg782Pro) c.1742G>C (p.Arg581Pro) c.2252G>C (p.Arg751Pro) c.1913G>C (p.Arg638Pro) c.2261G>C (p.Arg754Pro) c.2241+128G>C (n.2241+128G>C) c.2205+128G>C (n.2205+128G>C) c.2291G>C (p.Arg764Pro) c.2133+128G>C (n.2133+128G>C) c.1680-6075G>C (n.1680-6075G>C) c.2387G>C (p.Arg796Pro) c.2453G>C (p.Arg818Pro) c.2450G>C (p.Arg817Pro) c.2423G>C (p.Arg808Pro) c.2369G>C (p.Arg790Pro) c.2342G>C (p.Arg781Pro) c.2327G>C (p.Arg776Pro) c.1934G>C (p.Arg645Pro) c.2396G>C (p.Arg799Pro) c.2333G>C (p.Arg778Pro) c.2330G>C (p.Arg777Pro) c.2288G>C (p.Arg763Pro) c.1361G>C (p.Arg454Pro) | |
20 | g.63406918C>T | CA9958093 | KCNQ2 | c.2399G>A (p.Arg800Gln) c.2345G>A (p.Arg782Gln) c.1742G>A (p.Arg581Gln) c.2252G>A (p.Arg751Gln) c.1913G>A (p.Arg638Gln) c.2261G>A (p.Arg754Gln) c.2241+128G>A (n.2241+128G>A) c.2205+128G>A (n.2205+128G>A) c.2291G>A (p.Arg764Gln) c.2133+128G>A (n.2133+128G>A) c.1680-6075G>A (n.1680-6075G>A) c.2387G>A (p.Arg796Gln) c.2453G>A (p.Arg818Gln) c.2450G>A (p.Arg817Gln) c.2423G>A (p.Arg808Gln) c.2369G>A (p.Arg790Gln) c.2342G>A (p.Arg781Gln) c.2327G>A (p.Arg776Gln) c.1934G>A (p.Arg645Gln) c.2396G>A (p.Arg799Gln) c.2333G>A (p.Arg778Gln) c.2330G>A (p.Arg777Gln) c.2288G>A (p.Arg763Gln) c.1361G>A (p.Arg454Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406919G>A | CA9958094 | KCNQ2 | c.2398C>T (p.Arg800Trp) c.2344C>T (p.Arg782Trp) c.1741C>T (p.Arg581Trp) c.2251C>T (p.Arg751Trp) c.1912C>T (p.Arg638Trp) c.2260C>T (p.Arg754Trp) c.2241+127C>T (n.2241+127C>T) c.2205+127C>T (n.2205+127C>T) c.2290C>T (p.Arg764Trp) c.2133+127C>T (n.2133+127C>T) c.1680-6076C>T (n.1680-6076C>T) c.2386C>T (p.Arg796Trp) c.2452C>T (p.Arg818Trp) c.2449C>T (p.Arg817Trp) c.2422C>T (p.Arg808Trp) c.2368C>T (p.Arg790Trp) c.2341C>T (p.Arg781Trp) c.2326C>T (p.Arg776Trp) c.1933C>T (p.Arg645Trp) c.2395C>T (p.Arg799Trp) c.2332C>T (p.Arg778Trp) c.2329C>T (p.Arg777Trp) c.2287C>T (p.Arg763Trp) c.1360C>T (p.Arg454Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406919G>C | CA409637636 | KCNQ2 | c.2398C>G (p.Arg800Gly) c.2344C>G (p.Arg782Gly) c.1741C>G (p.Arg581Gly) c.2251C>G (p.Arg751Gly) c.1912C>G (p.Arg638Gly) c.2260C>G (p.Arg754Gly) c.2241+127C>G (n.2241+127C>G) c.2205+127C>G (n.2205+127C>G) c.2290C>G (p.Arg764Gly) c.2133+127C>G (n.2133+127C>G) c.1680-6076C>G (n.1680-6076C>G) c.2386C>G (p.Arg796Gly) c.2452C>G (p.Arg818Gly) c.2449C>G (p.Arg817Gly) c.2422C>G (p.Arg808Gly) c.2368C>G (p.Arg790Gly) c.2341C>G (p.Arg781Gly) c.2326C>G (p.Arg776Gly) c.1933C>G (p.Arg645Gly) c.2395C>G (p.Arg799Gly) c.2332C>G (p.Arg778Gly) c.2329C>G (p.Arg777Gly) c.2287C>G (p.Arg763Gly) c.1360C>G (p.Arg454Gly) | |
20 | g.63406919G= | CA2374774304 | KCNQ2 | c.2398C= (p.Arg800=) c.2344C= (p.Arg782=) c.1741C= (p.Arg581=) c.2251C= (p.Arg751=) c.1912C= (p.Arg638=) c.2260C= (p.Arg754=) c.2241+127C= (n.2241+127C=) c.2205+127C= (n.2205+127C=) c.2290C= (p.Arg764=) c.2133+127C= (n.2133+127C=) c.1680-6076C= (n.1680-6076C=) c.2386C= (p.Arg796=) c.2452C= (p.Arg818=) c.2449C= (p.Arg817=) c.2422C= (p.Arg808=) c.2368C= (p.Arg790=) c.2341C= (p.Arg781=) c.2326C= (p.Arg776=) c.1933C= (p.Arg645=) c.2395C= (p.Arg799=) c.2332C= (p.Arg778=) c.2329C= (p.Arg777=) c.2287C= (p.Arg763=) c.1360C= (p.Arg454=) | |
20 | g.63406919G>T | CA16608499 | KCNQ2 | c.2398C>A (p.Arg800=) c.2344C>A (p.Arg782=) c.1741C>A (p.Arg581=) c.2251C>A (p.Arg751=) c.1912C>A (p.Arg638=) c.2260C>A (p.Arg754=) c.2241+127C>A (n.2241+127C>A) c.2205+127C>A (n.2205+127C>A) c.2290C>A (p.Arg764=) c.2133+127C>A (n.2133+127C>A) c.1680-6076C>A (n.1680-6076C>A) c.2386C>A (p.Arg796=) c.2452C>A (p.Arg818=) c.2449C>A (p.Arg817=) c.2422C>A (p.Arg808=) c.2368C>A (p.Arg790=) c.2341C>A (p.Arg781=) c.2326C>A (p.Arg776=) c.1933C>A (p.Arg645=) c.2395C>A (p.Arg799=) c.2332C>A (p.Arg778=) c.2329C>A (p.Arg777=) c.2287C>A (p.Arg763=) c.1360C>A (p.Arg454=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406920C>A | CA511339279 | KCNQ2 | c.2397G>T (p.Leu799=) c.2343G>T (p.Leu781=) c.1740G>T (p.Leu580=) c.2250G>T (p.Leu750=) c.1911G>T (p.Leu637=) c.2259G>T (p.Leu753=) c.2241+126G>T (n.2241+126G>T) c.2205+126G>T (n.2205+126G>T) c.2289G>T (p.Leu763=) c.2133+126G>T (n.2133+126G>T) c.1680-6077G>T (n.1680-6077G>T) c.2385G>T (p.Leu795=) c.2451G>T (p.Leu817=) c.2448G>T (p.Leu816=) c.2421G>T (p.Leu807=) c.2367G>T (p.Leu789=) c.2340G>T (p.Leu780=) c.2325G>T (p.Leu775=) c.1932G>T (p.Leu644=) c.2394G>T (p.Leu798=) c.2331G>T (p.Leu777=) c.2328G>T (p.Leu776=) c.2286G>T (p.Leu762=) c.1359G>T (p.Leu453=) | |
20 | g.63406920C= | CA2374774305 | KCNQ2 | c.2397G= (p.Leu799=) c.2343G= (p.Leu781=) c.1740G= (p.Leu580=) c.2250G= (p.Leu750=) c.1911G= (p.Leu637=) c.2259G= (p.Leu753=) c.2241+126G= (n.2241+126G=) c.2205+126G= (n.2205+126G=) c.2289G= (p.Leu763=) c.2133+126G= (n.2133+126G=) c.1680-6077G= (n.1680-6077G=) c.2385G= (p.Leu795=) c.2451G= (p.Leu817=) c.2448G= (p.Leu816=) c.2421G= (p.Leu807=) c.2367G= (p.Leu789=) c.2340G= (p.Leu780=) c.2325G= (p.Leu775=) c.1932G= (p.Leu644=) c.2394G= (p.Leu798=) c.2331G= (p.Leu777=) c.2328G= (p.Leu776=) c.2286G= (p.Leu762=) c.1359G= (p.Leu453=) | |
20 | g.63406920C>G | CA511339278 | KCNQ2 | c.2397G>C (p.Leu799=) c.2343G>C (p.Leu781=) c.1740G>C (p.Leu580=) c.2250G>C (p.Leu750=) c.1911G>C (p.Leu637=) c.2259G>C (p.Leu753=) c.2241+126G>C (n.2241+126G>C) c.2205+126G>C (n.2205+126G>C) c.2289G>C (p.Leu763=) c.2133+126G>C (n.2133+126G>C) c.1680-6077G>C (n.1680-6077G>C) c.2385G>C (p.Leu795=) c.2451G>C (p.Leu817=) c.2448G>C (p.Leu816=) c.2421G>C (p.Leu807=) c.2367G>C (p.Leu789=) c.2340G>C (p.Leu780=) c.2325G>C (p.Leu775=) c.1932G>C (p.Leu644=) c.2394G>C (p.Leu798=) c.2331G>C (p.Leu777=) c.2328G>C (p.Leu776=) c.2286G>C (p.Leu762=) c.1359G>C (p.Leu453=) | |
20 | g.63406920C>T | CA9958095 | KCNQ2 | c.2397G>A (p.Leu799=) c.2343G>A (p.Leu781=) c.1740G>A (p.Leu580=) c.2250G>A (p.Leu750=) c.1911G>A (p.Leu637=) c.2259G>A (p.Leu753=) c.2241+126G>A (n.2241+126G>A) c.2205+126G>A (n.2205+126G>A) c.2289G>A (p.Leu763=) c.2133+126G>A (n.2133+126G>A) c.1680-6077G>A (n.1680-6077G>A) c.2385G>A (p.Leu795=) c.2451G>A (p.Leu817=) c.2448G>A (p.Leu816=) c.2421G>A (p.Leu807=) c.2367G>A (p.Leu789=) c.2340G>A (p.Leu780=) c.2325G>A (p.Leu775=) c.1932G>A (p.Leu644=) c.2394G>A (p.Leu798=) c.2331G>A (p.Leu777=) c.2328G>A (p.Leu776=) c.2286G>A (p.Leu762=) c.1359G>A (p.Leu453=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406921A= | CA2374774306 | KCNQ2 | c.2396T= (p.Leu799=) c.2342T= (p.Leu781=) c.1739T= (p.Leu580=) c.2249T= (p.Leu750=) c.1910T= (p.Leu637=) c.2258T= (p.Leu753=) c.2241+125T= (n.2241+125T=) c.2205+125T= (n.2205+125T=) c.2288T= (p.Leu763=) c.2133+125T= (n.2133+125T=) c.1680-6078T= (n.1680-6078T=) c.2384T= (p.Leu795=) c.2450T= (p.Leu817=) c.2447T= (p.Leu816=) c.2420T= (p.Leu807=) c.2366T= (p.Leu789=) c.2339T= (p.Leu780=) c.2324T= (p.Leu775=) c.1931T= (p.Leu644=) c.2393T= (p.Leu798=) c.2330T= (p.Leu777=) c.2327T= (p.Leu776=) c.2285T= (p.Leu762=) c.1358T= (p.Leu453=) | |
20 | g.63406921A>C | CA409637649 | KCNQ2 | c.2396T>G (p.Leu799Arg) c.2342T>G (p.Leu781Arg) c.1739T>G (p.Leu580Arg) c.2249T>G (p.Leu750Arg) c.1910T>G (p.Leu637Arg) c.2258T>G (p.Leu753Arg) c.2241+125T>G (n.2241+125T>G) c.2205+125T>G (n.2205+125T>G) c.2288T>G (p.Leu763Arg) c.2133+125T>G (n.2133+125T>G) c.1680-6078T>G (n.1680-6078T>G) c.2384T>G (p.Leu795Arg) c.2450T>G (p.Leu817Arg) c.2447T>G (p.Leu816Arg) c.2420T>G (p.Leu807Arg) c.2366T>G (p.Leu789Arg) c.2339T>G (p.Leu780Arg) c.2324T>G (p.Leu775Arg) c.1931T>G (p.Leu644Arg) c.2393T>G (p.Leu798Arg) c.2330T>G (p.Leu777Arg) c.2327T>G (p.Leu776Arg) c.2285T>G (p.Leu762Arg) c.1358T>G (p.Leu453Arg) | |
20 | g.63406921A>G | CA317421849 | KCNQ2 | c.2396T>C (p.Leu799Pro) c.2342T>C (p.Leu781Pro) c.1739T>C (p.Leu580Pro) c.2249T>C (p.Leu750Pro) c.1910T>C (p.Leu637Pro) c.2258T>C (p.Leu753Pro) c.2241+125T>C (n.2241+125T>C) c.2205+125T>C (n.2205+125T>C) c.2288T>C (p.Leu763Pro) c.2133+125T>C (n.2133+125T>C) c.1680-6078T>C (n.1680-6078T>C) c.2384T>C (p.Leu795Pro) c.2450T>C (p.Leu817Pro) c.2447T>C (p.Leu816Pro) c.2420T>C (p.Leu807Pro) c.2366T>C (p.Leu789Pro) c.2339T>C (p.Leu780Pro) c.2324T>C (p.Leu775Pro) c.1931T>C (p.Leu644Pro) c.2393T>C (p.Leu798Pro) c.2330T>C (p.Leu777Pro) c.2327T>C (p.Leu776Pro) c.2285T>C (p.Leu762Pro) c.1358T>C (p.Leu453Pro) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406921A>T | CA409637652 | KCNQ2 | c.2396T>A (p.Leu799Gln) c.2342T>A (p.Leu781Gln) c.1739T>A (p.Leu580Gln) c.2249T>A (p.Leu750Gln) c.1910T>A (p.Leu637Gln) c.2258T>A (p.Leu753Gln) c.2241+125T>A (n.2241+125T>A) c.2205+125T>A (n.2205+125T>A) c.2288T>A (p.Leu763Gln) c.2133+125T>A (n.2133+125T>A) c.1680-6078T>A (n.1680-6078T>A) c.2384T>A (p.Leu795Gln) c.2450T>A (p.Leu817Gln) c.2447T>A (p.Leu816Gln) c.2420T>A (p.Leu807Gln) c.2366T>A (p.Leu789Gln) c.2339T>A (p.Leu780Gln) c.2324T>A (p.Leu775Gln) c.1931T>A (p.Leu644Gln) c.2393T>A (p.Leu798Gln) c.2330T>A (p.Leu777Gln) c.2327T>A (p.Leu776Gln) c.2285T>A (p.Leu762Gln) c.1358T>A (p.Leu453Gln) | gnomAD v4 |
20 | g.63406922G>A | CA511339280 | KCNQ2 | c.2395C>T (p.Leu799=) c.2341C>T (p.Leu781=) c.1738C>T (p.Leu580=) c.2248C>T (p.Leu750=) c.1909C>T (p.Leu637=) c.2257C>T (p.Leu753=) c.2241+124C>T (n.2241+124C>T) c.2205+124C>T (n.2205+124C>T) c.2287C>T (p.Leu763=) c.2133+124C>T (n.2133+124C>T) c.1680-6079C>T (n.1680-6079C>T) c.2383C>T (p.Leu795=) c.2449C>T (p.Leu817=) c.2446C>T (p.Leu816=) c.2419C>T (p.Leu807=) c.2365C>T (p.Leu789=) c.2338C>T (p.Leu780=) c.2323C>T (p.Leu775=) c.1930C>T (p.Leu644=) c.2392C>T (p.Leu798=) c.2329C>T (p.Leu777=) c.2326C>T (p.Leu776=) c.2284C>T (p.Leu762=) c.1357C>T (p.Leu453=) | |
20 | g.63406922G>C | CA409637659 | KCNQ2 | c.2395C>G (p.Leu799Val) c.2341C>G (p.Leu781Val) c.1738C>G (p.Leu580Val) c.2248C>G (p.Leu750Val) c.1909C>G (p.Leu637Val) c.2257C>G (p.Leu753Val) c.2241+124C>G (n.2241+124C>G) c.2205+124C>G (n.2205+124C>G) c.2287C>G (p.Leu763Val) c.2133+124C>G (n.2133+124C>G) c.1680-6079C>G (n.1680-6079C>G) c.2383C>G (p.Leu795Val) c.2449C>G (p.Leu817Val) c.2446C>G (p.Leu816Val) c.2419C>G (p.Leu807Val) c.2365C>G (p.Leu789Val) c.2338C>G (p.Leu780Val) c.2323C>G (p.Leu775Val) c.1930C>G (p.Leu644Val) c.2392C>G (p.Leu798Val) c.2329C>G (p.Leu777Val) c.2326C>G (p.Leu776Val) c.2284C>G (p.Leu762Val) c.1357C>G (p.Leu453Val) | |
20 | g.63406922G>T | CA409637656 | KCNQ2 | c.2395C>A (p.Leu799Met) c.2341C>A (p.Leu781Met) c.1738C>A (p.Leu580Met) c.2248C>A (p.Leu750Met) c.1909C>A (p.Leu637Met) c.2257C>A (p.Leu753Met) c.2241+124C>A (n.2241+124C>A) c.2205+124C>A (n.2205+124C>A) c.2287C>A (p.Leu763Met) c.2133+124C>A (n.2133+124C>A) c.1680-6079C>A (n.1680-6079C>A) c.2383C>A (p.Leu795Met) c.2449C>A (p.Leu817Met) c.2446C>A (p.Leu816Met) c.2419C>A (p.Leu807Met) c.2365C>A (p.Leu789Met) c.2338C>A (p.Leu780Met) c.2323C>A (p.Leu775Met) c.1930C>A (p.Leu644Met) c.2392C>A (p.Leu798Met) c.2329C>A (p.Leu777Met) c.2326C>A (p.Leu776Met) c.2284C>A (p.Leu762Met) c.1357C>A (p.Leu453Met) | gnomAD v4 |
20 | g.63406923dup | CA2832528665 | KCNQ2 | c.2395dup (p.Leu799ProfsTer?) c.2341dup (p.Leu781ProfsTer?) c.1738dup (p.Leu580ProfsTer?) c.2248dup (p.Leu750ProfsTer?) c.1909dup (p.Leu637ProfsTer?) c.2257dup (p.Leu753ProfsTer?) c.2241+124dup (n.2241+124dup) c.2205+124dup (n.2205+124dup) c.2287dup (p.Leu763ProfsTer?) c.2133+124dup (n.2133+124dup) c.1680-6079dup (n.1680-6079dup) c.2383dup (p.Leu795ProfsTer?) c.2449dup (p.Leu817ProfsTer?) c.2446dup (p.Leu816ProfsTer?) c.2419dup (p.Leu807ProfsTer?) c.2365dup (p.Leu789ProfsTer?) c.2338dup (p.Leu780ProfsTer?) c.2323dup (p.Leu775ProfsTer?) c.1930dup (p.Leu644ProfsTer?) c.2392dup (p.Leu798ProfsTer?) c.2329dup (p.Leu777ProfsTer?) c.2326dup (p.Leu776ProfsTer?) c.2284dup (p.Leu762ProfsTer?) c.1357dup (p.Leu453ProfsTer?) | |
20 | g.63406923G>A | CA511339281 | KCNQ2 | c.2394C>T (p.Asn798=) c.2340C>T (p.Asn780=) c.1737C>T (p.Asn579=) c.2247C>T (p.Asn749=) c.1908C>T (p.Asn636=) c.2256C>T (p.Asn752=) c.2241+123C>T (n.2241+123C>T) c.2205+123C>T (n.2205+123C>T) c.2286C>T (p.Asn762=) c.2133+123C>T (n.2133+123C>T) c.1680-6080C>T (n.1680-6080C>T) c.2382C>T (p.Asn794=) c.2448C>T (p.Asn816=) c.2445C>T (p.Asn815=) c.2418C>T (p.Asn806=) c.2364C>T (p.Asn788=) c.2337C>T (p.Asn779=) c.2322C>T (p.Asn774=) c.1929C>T (p.Asn643=) c.2391C>T (p.Asn797=) c.2328C>T (p.Asn776=) c.2325C>T (p.Asn775=) c.2283C>T (p.Asn761=) c.1356C>T (p.Asn452=) | gnomAD v4 |
20 | g.63406923G>C | CA409637662 | KCNQ2 | c.2394C>G (p.Asn798Lys) c.2340C>G (p.Asn780Lys) c.1737C>G (p.Asn579Lys) c.2247C>G (p.Asn749Lys) c.1908C>G (p.Asn636Lys) c.2256C>G (p.Asn752Lys) c.2241+123C>G (n.2241+123C>G) c.2205+123C>G (n.2205+123C>G) c.2286C>G (p.Asn762Lys) c.2133+123C>G (n.2133+123C>G) c.1680-6080C>G (n.1680-6080C>G) c.2382C>G (p.Asn794Lys) c.2448C>G (p.Asn816Lys) c.2445C>G (p.Asn815Lys) c.2418C>G (p.Asn806Lys) c.2364C>G (p.Asn788Lys) c.2337C>G (p.Asn779Lys) c.2322C>G (p.Asn774Lys) c.1929C>G (p.Asn643Lys) c.2391C>G (p.Asn797Lys) c.2328C>G (p.Asn776Lys) c.2325C>G (p.Asn775Lys) c.2283C>G (p.Asn761Lys) c.1356C>G (p.Asn452Lys) | |
20 | g.63406923G>T | CA409637665 | KCNQ2 | c.2394C>A (p.Asn798Lys) c.2340C>A (p.Asn780Lys) c.1737C>A (p.Asn579Lys) c.2247C>A (p.Asn749Lys) c.1908C>A (p.Asn636Lys) c.2256C>A (p.Asn752Lys) c.2241+123C>A (n.2241+123C>A) c.2205+123C>A (n.2205+123C>A) c.2286C>A (p.Asn762Lys) c.2133+123C>A (n.2133+123C>A) c.1680-6080C>A (n.1680-6080C>A) c.2382C>A (p.Asn794Lys) c.2448C>A (p.Asn816Lys) c.2445C>A (p.Asn815Lys) c.2418C>A (p.Asn806Lys) c.2364C>A (p.Asn788Lys) c.2337C>A (p.Asn779Lys) c.2322C>A (p.Asn774Lys) c.1929C>A (p.Asn643Lys) c.2391C>A (p.Asn797Lys) c.2328C>A (p.Asn776Lys) c.2325C>A (p.Asn775Lys) c.2283C>A (p.Asn761Lys) c.1356C>A (p.Asn452Lys) | gnomAD v4 |
20 | g.63406923_63406925del | CA2816991441 | KCNQ2 | c.2392_2394del (p.Asn798del) c.2338_2340del (p.Asn780del) c.1735_1737del (p.Asn579del) c.2245_2247del (p.Asn749del) c.1906_1908del (p.Asn636del) c.2254_2256del (p.Asn752del) c.2241+121_2241+123del (n.2241+121_2241+123del) c.2205+121_2205+123del (n.2205+121_2205+123del) c.2284_2286del (p.Asn762del) c.2133+121_2133+123del (n.2133+121_2133+123del) c.1680-6082_1680-6080del (n.1680-6082_1680-6080del) c.2380_2382del (p.Asn794del) c.2446_2448del (p.Asn816del) c.2443_2445del (p.Asn815del) c.2416_2418del (p.Asn806del) c.2362_2364del (p.Asn788del) c.2335_2337del (p.Asn779del) c.2320_2322del (p.Asn774del) c.1927_1929del (p.Asn643del) c.2389_2391del (p.Asn797del) c.2326_2328del (p.Asn776del) c.2323_2325del (p.Asn775del) c.2281_2283del (p.Asn761del) c.1354_1356del (p.Asn452del) | |
20 | g.63406924T>A | CA409637668 | KCNQ2 | c.2393A>T (p.Asn798Ile) c.2339A>T (p.Asn780Ile) c.1736A>T (p.Asn579Ile) c.2246A>T (p.Asn749Ile) c.1907A>T (p.Asn636Ile) c.2255A>T (p.Asn752Ile) c.2241+122A>T (n.2241+122A>T) c.2205+122A>T (n.2205+122A>T) c.2285A>T (p.Asn762Ile) c.2133+122A>T (n.2133+122A>T) c.1680-6081A>T (n.1680-6081A>T) c.2381A>T (p.Asn794Ile) c.2447A>T (p.Asn816Ile) c.2444A>T (p.Asn815Ile) c.2417A>T (p.Asn806Ile) c.2363A>T (p.Asn788Ile) c.2336A>T (p.Asn779Ile) c.2321A>T (p.Asn774Ile) c.1928A>T (p.Asn643Ile) c.2390A>T (p.Asn797Ile) c.2327A>T (p.Asn776Ile) c.2324A>T (p.Asn775Ile) c.2282A>T (p.Asn761Ile) c.1355A>T (p.Asn452Ile) | gnomAD v4 |
20 | g.63406924T>C | CA409637671 | KCNQ2 | c.2393A>G (p.Asn798Ser) c.2339A>G (p.Asn780Ser) c.1736A>G (p.Asn579Ser) c.2246A>G (p.Asn749Ser) c.1907A>G (p.Asn636Ser) c.2255A>G (p.Asn752Ser) c.2241+122A>G (n.2241+122A>G) c.2205+122A>G (n.2205+122A>G) c.2285A>G (p.Asn762Ser) c.2133+122A>G (n.2133+122A>G) c.1680-6081A>G (n.1680-6081A>G) c.2381A>G (p.Asn794Ser) c.2447A>G (p.Asn816Ser) c.2444A>G (p.Asn815Ser) c.2417A>G (p.Asn806Ser) c.2363A>G (p.Asn788Ser) c.2336A>G (p.Asn779Ser) c.2321A>G (p.Asn774Ser) c.1928A>G (p.Asn643Ser) c.2390A>G (p.Asn797Ser) c.2327A>G (p.Asn776Ser) c.2324A>G (p.Asn775Ser) c.2282A>G (p.Asn761Ser) c.1355A>G (p.Asn452Ser) | gnomAD v4 |
20 | g.63406924T>G | CA285799 | KCNQ2 | c.2393A>C (p.Asn798Thr) c.2339A>C (p.Asn780Thr) c.1736A>C (p.Asn579Thr) c.2246A>C (p.Asn749Thr) c.1907A>C (p.Asn636Thr) c.2255A>C (p.Asn752Thr) c.2241+122A>C (n.2241+122A>C) c.2205+122A>C (n.2205+122A>C) c.2285A>C (p.Asn762Thr) c.2133+122A>C (n.2133+122A>C) c.1680-6081A>C (n.1680-6081A>C) c.2381A>C (p.Asn794Thr) c.2447A>C (p.Asn816Thr) c.2444A>C (p.Asn815Thr) c.2417A>C (p.Asn806Thr) c.2363A>C (p.Asn788Thr) c.2336A>C (p.Asn779Thr) c.2321A>C (p.Asn774Thr) c.1928A>C (p.Asn643Thr) c.2390A>C (p.Asn797Thr) c.2327A>C (p.Asn776Thr) c.2324A>C (p.Asn775Thr) c.2282A>C (p.Asn761Thr) c.1355A>C (p.Asn452Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406924T= | CA2374774307 | KCNQ2 | c.2393A= (p.Asn798=) c.2339A= (p.Asn780=) c.1736A= (p.Asn579=) c.2246A= (p.Asn749=) c.1907A= (p.Asn636=) c.2255A= (p.Asn752=) c.2241+122A= (n.2241+122A=) c.2205+122A= (n.2205+122A=) c.2285A= (p.Asn762=) c.2133+122A= (n.2133+122A=) c.1680-6081A= (n.1680-6081A=) c.2381A= (p.Asn794=) c.2447A= (p.Asn816=) c.2444A= (p.Asn815=) c.2417A= (p.Asn806=) c.2363A= (p.Asn788=) c.2336A= (p.Asn779=) c.2321A= (p.Asn774=) c.1928A= (p.Asn643=) c.2390A= (p.Asn797=) c.2327A= (p.Asn776=) c.2324A= (p.Asn775=) c.2282A= (p.Asn761=) c.1355A= (p.Asn452=) | |
20 | g.63406924_63406925del | CA2842871702 | KCNQ2 | c.2392_2393del (p.Asn798ProfsTer?) c.2338_2339del (p.Asn780ProfsTer?) c.1735_1736del (p.Asn579ProfsTer?) c.2245_2246del (p.Asn749ProfsTer?) c.1906_1907del (p.Asn636ProfsTer?) c.2254_2255del (p.Asn752ProfsTer?) c.2241+121_2241+122del (n.2241+121_2241+122del) c.2205+121_2205+122del (n.2205+121_2205+122del) c.2284_2285del (p.Asn762ProfsTer?) c.2133+121_2133+122del (n.2133+121_2133+122del) c.1680-6082_1680-6081del (n.1680-6082_1680-6081del) c.2380_2381del (p.Asn794ProfsTer?) c.2446_2447del (p.Asn816ProfsTer?) c.2443_2444del (p.Asn815ProfsTer?) c.2416_2417del (p.Asn806ProfsTer?) c.2362_2363del (p.Asn788ProfsTer?) c.2335_2336del (p.Asn779ProfsTer?) c.2320_2321del (p.Asn774ProfsTer?) c.1927_1928del (p.Asn643ProfsTer?) c.2389_2390del (p.Asn797ProfsTer?) c.2326_2327del (p.Asn776ProfsTer?) c.2323_2324del (p.Asn775ProfsTer?) c.2281_2282del (p.Asn761ProfsTer?) c.1354_1355del (p.Asn452ProfsTer?) | |
20 | g.63406925del | CA2573157290 | KCNQ2 | c.2393del (p.Asn798ThrfsTer?) c.2339del (p.Asn780ThrfsTer?) c.1736del (p.Asn579ThrfsTer?) c.2246del (p.Asn749ThrfsTer?) c.1907del (p.Asn636ThrfsTer?) c.2255del (p.Asn752ThrfsTer?) c.2241+122del (n.2241+122del) c.2205+122del (n.2205+122del) c.2285del (p.Asn762ThrfsTer?) c.2133+122del (n.2133+122del) c.1680-6081del (n.1680-6081del) c.2381del (p.Asn794ThrfsTer?) c.2447del (p.Asn816ThrfsTer?) c.2444del (p.Asn815ThrfsTer?) c.2417del (p.Asn806ThrfsTer?) c.2363del (p.Asn788ThrfsTer?) c.2336del (p.Asn779ThrfsTer?) c.2321del (p.Asn774ThrfsTer?) c.1928del (p.Asn643ThrfsTer?) c.2390del (p.Asn797ThrfsTer?) c.2327del (p.Asn776ThrfsTer?) c.2324del (p.Asn775ThrfsTer?) c.2282del (p.Asn761ThrfsTer?) c.1355del (p.Asn452ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
20 | g.63406925T>A | CA409637676 | KCNQ2 | c.2392A>T (p.Asn798Tyr) c.2338A>T (p.Asn780Tyr) c.1735A>T (p.Asn579Tyr) c.2245A>T (p.Asn749Tyr) c.1906A>T (p.Asn636Tyr) c.2254A>T (p.Asn752Tyr) c.2241+121A>T (n.2241+121A>T) c.2205+121A>T (n.2205+121A>T) c.2284A>T (p.Asn762Tyr) c.2133+121A>T (n.2133+121A>T) c.1680-6082A>T (n.1680-6082A>T) c.2380A>T (p.Asn794Tyr) c.2446A>T (p.Asn816Tyr) c.2443A>T (p.Asn815Tyr) c.2416A>T (p.Asn806Tyr) c.2362A>T (p.Asn788Tyr) c.2335A>T (p.Asn779Tyr) c.2320A>T (p.Asn774Tyr) c.1927A>T (p.Asn643Tyr) c.2389A>T (p.Asn797Tyr) c.2326A>T (p.Asn776Tyr) c.2323A>T (p.Asn775Tyr) c.2281A>T (p.Asn761Tyr) c.1354A>T (p.Asn452Tyr) | |
20 | g.63406925T>C | CA409637678 | KCNQ2 | c.2392A>G (p.Asn798Asp) c.2338A>G (p.Asn780Asp) c.1735A>G (p.Asn579Asp) c.2245A>G (p.Asn749Asp) c.1906A>G (p.Asn636Asp) c.2254A>G (p.Asn752Asp) c.2241+121A>G (n.2241+121A>G) c.2205+121A>G (n.2205+121A>G) c.2284A>G (p.Asn762Asp) c.2133+121A>G (n.2133+121A>G) c.1680-6082A>G (n.1680-6082A>G) c.2380A>G (p.Asn794Asp) c.2446A>G (p.Asn816Asp) c.2443A>G (p.Asn815Asp) c.2416A>G (p.Asn806Asp) c.2362A>G (p.Asn788Asp) c.2335A>G (p.Asn779Asp) c.2320A>G (p.Asn774Asp) c.1927A>G (p.Asn643Asp) c.2389A>G (p.Asn797Asp) c.2326A>G (p.Asn776Asp) c.2323A>G (p.Asn775Asp) c.2281A>G (p.Asn761Asp) c.1354A>G (p.Asn452Asp) | gnomAD v4 |
20 | g.63406925T>G | CA409637679 | KCNQ2 | c.2392A>C (p.Asn798His) c.2338A>C (p.Asn780His) c.1735A>C (p.Asn579His) c.2245A>C (p.Asn749His) c.1906A>C (p.Asn636His) c.2254A>C (p.Asn752His) c.2241+121A>C (n.2241+121A>C) c.2205+121A>C (n.2205+121A>C) c.2284A>C (p.Asn762His) c.2133+121A>C (n.2133+121A>C) c.1680-6082A>C (n.1680-6082A>C) c.2380A>C (p.Asn794His) c.2446A>C (p.Asn816His) c.2443A>C (p.Asn815His) c.2416A>C (p.Asn806His) c.2362A>C (p.Asn788His) c.2335A>C (p.Asn779His) c.2320A>C (p.Asn774His) c.1927A>C (p.Asn643His) c.2389A>C (p.Asn797His) c.2326A>C (p.Asn776His) c.2323A>C (p.Asn775His) c.2281A>C (p.Asn761His) c.1354A>C (p.Asn452His) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406925T= | CA2374774308 | KCNQ2 | c.2392A= (p.Asn798=) c.2338A= (p.Asn780=) c.1735A= (p.Asn579=) c.2245A= (p.Asn749=) c.1906A= (p.Asn636=) c.2254A= (p.Asn752=) c.2241+121A= (n.2241+121A=) c.2205+121A= (n.2205+121A=) c.2284A= (p.Asn762=) c.2133+121A= (n.2133+121A=) c.1680-6082A= (n.1680-6082A=) c.2380A= (p.Asn794=) c.2446A= (p.Asn816=) c.2443A= (p.Asn815=) c.2416A= (p.Asn806=) c.2362A= (p.Asn788=) c.2335A= (p.Asn779=) c.2320A= (p.Asn774=) c.1927A= (p.Asn643=) c.2389A= (p.Asn797=) c.2326A= (p.Asn776=) c.2323A= (p.Asn775=) c.2281A= (p.Asn761=) c.1354A= (p.Asn452=) | |
20 | g.63406926C>A | CA511339285 | KCNQ2 | c.2391G>T (p.Gly797=) c.2337G>T (p.Gly779=) c.1734G>T (p.Gly578=) c.2244G>T (p.Gly748=) c.1905G>T (p.Gly635=) c.2253G>T (p.Gly751=) c.2241+120G>T (n.2241+120G>T) c.2205+120G>T (n.2205+120G>T) c.2283G>T (p.Gly761=) c.2133+120G>T (n.2133+120G>T) c.1680-6083G>T (n.1680-6083G>T) c.2379G>T (p.Gly793=) c.2445G>T (p.Gly815=) c.2442G>T (p.Gly814=) c.2415G>T (p.Gly805=) c.2361G>T (p.Gly787=) c.2334G>T (p.Gly778=) c.2319G>T (p.Gly773=) c.1926G>T (p.Gly642=) c.2388G>T (p.Gly796=) c.2325G>T (p.Gly775=) c.2322G>T (p.Gly774=) c.2280G>T (p.Gly760=) c.1353G>T (p.Gly451=) | |
20 | g.63406926C>G | CA511339286 | KCNQ2 | c.2391G>C (p.Gly797=) c.2337G>C (p.Gly779=) c.1734G>C (p.Gly578=) c.2244G>C (p.Gly748=) c.1905G>C (p.Gly635=) c.2253G>C (p.Gly751=) c.2241+120G>C (n.2241+120G>C) c.2205+120G>C (n.2205+120G>C) c.2283G>C (p.Gly761=) c.2133+120G>C (n.2133+120G>C) c.1680-6083G>C (n.1680-6083G>C) c.2379G>C (p.Gly793=) c.2445G>C (p.Gly815=) c.2442G>C (p.Gly814=) c.2415G>C (p.Gly805=) c.2361G>C (p.Gly787=) c.2334G>C (p.Gly778=) c.2319G>C (p.Gly773=) c.1926G>C (p.Gly642=) c.2388G>C (p.Gly796=) c.2325G>C (p.Gly775=) c.2322G>C (p.Gly774=) c.2280G>C (p.Gly760=) c.1353G>C (p.Gly451=) | |
20 | g.63406926C>T | CA511339287 | KCNQ2 | c.2391G>A (p.Gly797=) c.2337G>A (p.Gly779=) c.1734G>A (p.Gly578=) c.2244G>A (p.Gly748=) c.1905G>A (p.Gly635=) c.2253G>A (p.Gly751=) c.2241+120G>A (n.2241+120G>A) c.2205+120G>A (n.2205+120G>A) c.2283G>A (p.Gly761=) c.2133+120G>A (n.2133+120G>A) c.1680-6083G>A (n.1680-6083G>A) c.2379G>A (p.Gly793=) c.2445G>A (p.Gly815=) c.2442G>A (p.Gly814=) c.2415G>A (p.Gly805=) c.2361G>A (p.Gly787=) c.2334G>A (p.Gly778=) c.2319G>A (p.Gly773=) c.1926G>A (p.Gly642=) c.2388G>A (p.Gly796=) c.2325G>A (p.Gly775=) c.2322G>A (p.Gly774=) c.2280G>A (p.Gly760=) c.1353G>A (p.Gly451=) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406926_63406927insGCG | CA2816991449 | KCNQ2 | c.2390_2391insCGC (p.Gly797_Asn798insAla) c.2336_2337insCGC (p.Gly779_Asn780insAla) c.1733_1734insCGC (p.Gly578_Asn579insAla) c.2243_2244insCGC (p.Gly748_Asn749insAla) c.1904_1905insCGC (p.Gly635_Asn636insAla) c.2252_2253insCGC (p.Gly751_Asn752insAla) c.2241+119_2241+120insCGC (n.2241+119_2241+120insCGC) c.2205+119_2205+120insCGC (n.2205+119_2205+120insCGC) c.2282_2283insCGC (p.Gly761_Asn762insAla) c.2133+119_2133+120insCGC (n.2133+119_2133+120insCGC) c.1680-6084_1680-6083insCGC (n.1680-6084_1680-6083insCGC) c.2378_2379insCGC (p.Gly793_Asn794insAla) c.2444_2445insCGC (p.Gly815_Asn816insAla) c.2441_2442insCGC (p.Gly814_Asn815insAla) c.2414_2415insCGC (p.Gly805_Asn806insAla) c.2360_2361insCGC (p.Gly787_Asn788insAla) c.2333_2334insCGC (p.Gly778_Asn779insAla) c.2318_2319insCGC (p.Gly773_Asn774insAla) c.1925_1926insCGC (p.Gly642_Asn643insAla) c.2387_2388insCGC (p.Gly796_Asn797insAla) c.2324_2325insCGC (p.Gly775_Asn776insAla) c.2321_2322insCGC (p.Gly774_Asn775insAla) c.2279_2280insCGC (p.Gly760_Asn761insAla) c.1352_1353insCGC (p.Gly451_Asn452insAla) | |
20 | g.63406927C>A | CA409637683 | KCNQ2 | c.2390G>T (p.Gly797Val) c.2336G>T (p.Gly779Val) c.1733G>T (p.Gly578Val) c.2243G>T (p.Gly748Val) c.1904G>T (p.Gly635Val) c.2252G>T (p.Gly751Val) c.2241+119G>T (n.2241+119G>T) c.2205+119G>T (n.2205+119G>T) c.2282G>T (p.Gly761Val) c.2133+119G>T (n.2133+119G>T) c.1680-6084G>T (n.1680-6084G>T) c.2378G>T (p.Gly793Val) c.2444G>T (p.Gly815Val) c.2441G>T (p.Gly814Val) c.2414G>T (p.Gly805Val) c.2360G>T (p.Gly787Val) c.2333G>T (p.Gly778Val) c.2318G>T (p.Gly773Val) c.1925G>T (p.Gly642Val) c.2387G>T (p.Gly796Val) c.2324G>T (p.Gly775Val) c.2321G>T (p.Gly774Val) c.2279G>T (p.Gly760Val) c.1352G>T (p.Gly451Val) | dbSNP gnomAD v2 |
20 | g.63406927C= | CA2374774309 | KCNQ2 | c.2390G= (p.Gly797=) c.2336G= (p.Gly779=) c.1733G= (p.Gly578=) c.2243G= (p.Gly748=) c.1904G= (p.Gly635=) c.2252G= (p.Gly751=) c.2241+119G= (n.2241+119G=) c.2205+119G= (n.2205+119G=) c.2282G= (p.Gly761=) c.2133+119G= (n.2133+119G=) c.1680-6084G= (n.1680-6084G=) c.2378G= (p.Gly793=) c.2444G= (p.Gly815=) c.2441G= (p.Gly814=) c.2414G= (p.Gly805=) c.2360G= (p.Gly787=) c.2333G= (p.Gly778=) c.2318G= (p.Gly773=) c.1925G= (p.Gly642=) c.2387G= (p.Gly796=) c.2324G= (p.Gly775=) c.2321G= (p.Gly774=) c.2279G= (p.Gly760=) c.1352G= (p.Gly451=) | |
20 | g.63406927C>G | CA409637685 | KCNQ2 | c.2390G>C (p.Gly797Ala) c.2336G>C (p.Gly779Ala) c.1733G>C (p.Gly578Ala) c.2243G>C (p.Gly748Ala) c.1904G>C (p.Gly635Ala) c.2252G>C (p.Gly751Ala) c.2241+119G>C (n.2241+119G>C) c.2205+119G>C (n.2205+119G>C) c.2282G>C (p.Gly761Ala) c.2133+119G>C (n.2133+119G>C) c.1680-6084G>C (n.1680-6084G>C) c.2378G>C (p.Gly793Ala) c.2444G>C (p.Gly815Ala) c.2441G>C (p.Gly814Ala) c.2414G>C (p.Gly805Ala) c.2360G>C (p.Gly787Ala) c.2333G>C (p.Gly778Ala) c.2318G>C (p.Gly773Ala) c.1925G>C (p.Gly642Ala) c.2387G>C (p.Gly796Ala) c.2324G>C (p.Gly775Ala) c.2321G>C (p.Gly774Ala) c.2279G>C (p.Gly760Ala) c.1352G>C (p.Gly451Ala) | |
20 | g.63406927C>T | CA317421851 | KCNQ2 | c.2390G>A (p.Gly797Glu) c.2336G>A (p.Gly779Glu) c.1733G>A (p.Gly578Glu) c.2243G>A (p.Gly748Glu) c.1904G>A (p.Gly635Glu) c.2252G>A (p.Gly751Glu) c.2241+119G>A (n.2241+119G>A) c.2205+119G>A (n.2205+119G>A) c.2282G>A (p.Gly761Glu) c.2133+119G>A (n.2133+119G>A) c.1680-6084G>A (n.1680-6084G>A) c.2378G>A (p.Gly793Glu) c.2444G>A (p.Gly815Glu) c.2441G>A (p.Gly814Glu) c.2414G>A (p.Gly805Glu) c.2360G>A (p.Gly787Glu) c.2333G>A (p.Gly778Glu) c.2318G>A (p.Gly773Glu) c.1925G>A (p.Gly642Glu) c.2387G>A (p.Gly796Glu) c.2324G>A (p.Gly775Glu) c.2321G>A (p.Gly774Glu) c.2279G>A (p.Gly760Glu) c.1352G>A (p.Gly451Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406928C>A | CA409637694 | KCNQ2 | c.2389G>T (p.Gly797Trp) c.2335G>T (p.Gly779Trp) c.1732G>T (p.Gly578Trp) c.2242G>T (p.Gly748Trp) c.1903G>T (p.Gly635Trp) c.2251G>T (p.Gly751Trp) c.2241+118G>T (n.2241+118G>T) c.2205+118G>T (n.2205+118G>T) c.2281G>T (p.Gly761Trp) c.2133+118G>T (n.2133+118G>T) c.1680-6085G>T (n.1680-6085G>T) c.2377G>T (p.Gly793Trp) c.2443G>T (p.Gly815Trp) c.2440G>T (p.Gly814Trp) c.2413G>T (p.Gly805Trp) c.2359G>T (p.Gly787Trp) c.2332G>T (p.Gly778Trp) c.2317G>T (p.Gly773Trp) c.1924G>T (p.Gly642Trp) c.2386G>T (p.Gly796Trp) c.2323G>T (p.Gly775Trp) c.2320G>T (p.Gly774Trp) c.2278G>T (p.Gly760Trp) c.1351G>T (p.Gly451Trp) | |
20 | g.63406928C= | CA2374774310 | KCNQ2 | c.2389G= (p.Gly797=) c.2335G= (p.Gly779=) c.1732G= (p.Gly578=) c.2242G= (p.Gly748=) c.1903G= (p.Gly635=) c.2251G= (p.Gly751=) c.2241+118G= (n.2241+118G=) c.2205+118G= (n.2205+118G=) c.2281G= (p.Gly761=) c.2133+118G= (n.2133+118G=) c.1680-6085G= (n.1680-6085G=) c.2377G= (p.Gly793=) c.2443G= (p.Gly815=) c.2440G= (p.Gly814=) c.2413G= (p.Gly805=) c.2359G= (p.Gly787=) c.2332G= (p.Gly778=) c.2317G= (p.Gly773=) c.1924G= (p.Gly642=) c.2386G= (p.Gly796=) c.2323G= (p.Gly775=) c.2320G= (p.Gly774=) c.2278G= (p.Gly760=) c.1351G= (p.Gly451=) | |
20 | g.63406928C>G | CA409637692 | KCNQ2 | c.2389G>C (p.Gly797Arg) c.2335G>C (p.Gly779Arg) c.1732G>C (p.Gly578Arg) c.2242G>C (p.Gly748Arg) c.1903G>C (p.Gly635Arg) c.2251G>C (p.Gly751Arg) c.2241+118G>C (n.2241+118G>C) c.2205+118G>C (n.2205+118G>C) c.2281G>C (p.Gly761Arg) c.2133+118G>C (n.2133+118G>C) c.1680-6085G>C (n.1680-6085G>C) c.2377G>C (p.Gly793Arg) c.2443G>C (p.Gly815Arg) c.2440G>C (p.Gly814Arg) c.2413G>C (p.Gly805Arg) c.2359G>C (p.Gly787Arg) c.2332G>C (p.Gly778Arg) c.2317G>C (p.Gly773Arg) c.1924G>C (p.Gly642Arg) c.2386G>C (p.Gly796Arg) c.2323G>C (p.Gly775Arg) c.2320G>C (p.Gly774Arg) c.2278G>C (p.Gly760Arg) c.1351G>C (p.Gly451Arg) | |
20 | g.63406928C>T | CA409637689 | KCNQ2 | c.2389G>A (p.Gly797Arg) c.2335G>A (p.Gly779Arg) c.1732G>A (p.Gly578Arg) c.2242G>A (p.Gly748Arg) c.1903G>A (p.Gly635Arg) c.2251G>A (p.Gly751Arg) c.2241+118G>A (n.2241+118G>A) c.2205+118G>A (n.2205+118G>A) c.2281G>A (p.Gly761Arg) c.2133+118G>A (n.2133+118G>A) c.1680-6085G>A (n.1680-6085G>A) c.2377G>A (p.Gly793Arg) c.2443G>A (p.Gly815Arg) c.2440G>A (p.Gly814Arg) c.2413G>A (p.Gly805Arg) c.2359G>A (p.Gly787Arg) c.2332G>A (p.Gly778Arg) c.2317G>A (p.Gly773Arg) c.1924G>A (p.Gly642Arg) c.2386G>A (p.Gly796Arg) c.2323G>A (p.Gly775Arg) c.2320G>A (p.Gly774Arg) c.2278G>A (p.Gly760Arg) c.1351G>A (p.Gly451Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406929C>A | CA409637698 | KCNQ2 | c.2388G>T (p.Glu796Asp) c.2334G>T (p.Glu778Asp) c.1731G>T (p.Glu577Asp) c.2241G>T (p.Glu747Asp) c.1902G>T (p.Glu634Asp) c.2250G>T (p.Glu750Asp) c.2241+117G>T (n.2241+117G>T) c.2205+117G>T (n.2205+117G>T) c.2280G>T (p.Glu760Asp) c.2133+117G>T (n.2133+117G>T) c.1680-6086G>T (n.1680-6086G>T) c.2376G>T (p.Glu792Asp) c.2442G>T (p.Glu814Asp) c.2439G>T (p.Glu813Asp) c.2412G>T (p.Glu804Asp) c.2358G>T (p.Glu786Asp) c.2331G>T (p.Glu777Asp) c.2316G>T (p.Glu772Asp) c.1923G>T (p.Glu641Asp) c.2385G>T (p.Glu795Asp) c.2322G>T (p.Glu774Asp) c.2319G>T (p.Glu773Asp) c.2277G>T (p.Glu759Asp) c.1350G>T (p.Glu450Asp) | gnomAD v4 |
20 | g.63406929C= | CA2374774311 | KCNQ2 | c.2388G= (p.Glu796=) c.2334G= (p.Glu778=) c.1731G= (p.Glu577=) c.2241G= (p.Glu747=) c.1902G= (p.Glu634=) c.2250G= (p.Glu750=) c.2241+117G= (n.2241+117G=) c.2205+117G= (n.2205+117G=) c.2280G= (p.Glu760=) c.2133+117G= (n.2133+117G=) c.1680-6086G= (n.1680-6086G=) c.2376G= (p.Glu792=) c.2442G= (p.Glu814=) c.2439G= (p.Glu813=) c.2412G= (p.Glu804=) c.2358G= (p.Glu786=) c.2331G= (p.Glu777=) c.2316G= (p.Glu772=) c.1923G= (p.Glu641=) c.2385G= (p.Glu795=) c.2322G= (p.Glu774=) c.2319G= (p.Glu773=) c.2277G= (p.Glu759=) c.1350G= (p.Glu450=) | |
20 | g.63406929C>G | CA409637701 | KCNQ2 | c.2388G>C (p.Glu796Asp) c.2334G>C (p.Glu778Asp) c.1731G>C (p.Glu577Asp) c.2241G>C (p.Glu747Asp) c.1902G>C (p.Glu634Asp) c.2250G>C (p.Glu750Asp) c.2241+117G>C (n.2241+117G>C) c.2205+117G>C (n.2205+117G>C) c.2280G>C (p.Glu760Asp) c.2133+117G>C (n.2133+117G>C) c.1680-6086G>C (n.1680-6086G>C) c.2376G>C (p.Glu792Asp) c.2442G>C (p.Glu814Asp) c.2439G>C (p.Glu813Asp) c.2412G>C (p.Glu804Asp) c.2358G>C (p.Glu786Asp) c.2331G>C (p.Glu777Asp) c.2316G>C (p.Glu772Asp) c.1923G>C (p.Glu641Asp) c.2385G>C (p.Glu795Asp) c.2322G>C (p.Glu774Asp) c.2319G>C (p.Glu773Asp) c.2277G>C (p.Glu759Asp) c.1350G>C (p.Glu450Asp) | |
20 | g.63406929C>T | CA511339293 | KCNQ2 | c.2388G>A (p.Glu796=) c.2334G>A (p.Glu778=) c.1731G>A (p.Glu577=) c.2241G>A (p.Glu747=) c.1902G>A (p.Glu634=) c.2250G>A (p.Glu750=) c.2241+117G>A (n.2241+117G>A) c.2205+117G>A (n.2205+117G>A) c.2280G>A (p.Glu760=) c.2133+117G>A (n.2133+117G>A) c.1680-6086G>A (n.1680-6086G>A) c.2376G>A (p.Glu792=) c.2442G>A (p.Glu814=) c.2439G>A (p.Glu813=) c.2412G>A (p.Glu804=) c.2358G>A (p.Glu786=) c.2331G>A (p.Glu777=) c.2316G>A (p.Glu772=) c.1923G>A (p.Glu641=) c.2385G>A (p.Glu795=) c.2322G>A (p.Glu774=) c.2319G>A (p.Glu773=) c.2277G>A (p.Glu759=) c.1350G>A (p.Glu450=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406930T>A | CA9958096 | KCNQ2 | c.2387A>T (p.Glu796Val) c.2333A>T (p.Glu778Val) c.1730A>T (p.Glu577Val) c.2240A>T (p.Glu747Val) c.1901A>T (p.Glu634Val) c.2249A>T (p.Glu750Val) c.2241+116A>T (n.2241+116A>T) c.2205+116A>T (n.2205+116A>T) c.2279A>T (p.Glu760Val) c.2133+116A>T (n.2133+116A>T) c.1680-6087A>T (n.1680-6087A>T) c.2375A>T (p.Glu792Val) c.2441A>T (p.Glu814Val) c.2438A>T (p.Glu813Val) c.2411A>T (p.Glu804Val) c.2357A>T (p.Glu786Val) c.2330A>T (p.Glu777Val) c.2315A>T (p.Glu772Val) c.1922A>T (p.Glu641Val) c.2384A>T (p.Glu795Val) c.2321A>T (p.Glu774Val) c.2318A>T (p.Glu773Val) c.2276A>T (p.Glu759Val) c.1349A>T (p.Glu450Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406930T>C | CA409637707 | KCNQ2 | c.2387A>G (p.Glu796Gly) c.2333A>G (p.Glu778Gly) c.1730A>G (p.Glu577Gly) c.2240A>G (p.Glu747Gly) c.1901A>G (p.Glu634Gly) c.2249A>G (p.Glu750Gly) c.2241+116A>G (n.2241+116A>G) c.2205+116A>G (n.2205+116A>G) c.2279A>G (p.Glu760Gly) c.2133+116A>G (n.2133+116A>G) c.1680-6087A>G (n.1680-6087A>G) c.2375A>G (p.Glu792Gly) c.2441A>G (p.Glu814Gly) c.2438A>G (p.Glu813Gly) c.2411A>G (p.Glu804Gly) c.2357A>G (p.Glu786Gly) c.2330A>G (p.Glu777Gly) c.2315A>G (p.Glu772Gly) c.1922A>G (p.Glu641Gly) c.2384A>G (p.Glu795Gly) c.2321A>G (p.Glu774Gly) c.2318A>G (p.Glu773Gly) c.2276A>G (p.Glu759Gly) c.1349A>G (p.Glu450Gly) | gnomAD v4 |
20 | g.63406930T>G | CA409637709 | KCNQ2 | c.2387A>C (p.Glu796Ala) c.2333A>C (p.Glu778Ala) c.1730A>C (p.Glu577Ala) c.2240A>C (p.Glu747Ala) c.1901A>C (p.Glu634Ala) c.2249A>C (p.Glu750Ala) c.2241+116A>C (n.2241+116A>C) c.2205+116A>C (n.2205+116A>C) c.2279A>C (p.Glu760Ala) c.2133+116A>C (n.2133+116A>C) c.1680-6087A>C (n.1680-6087A>C) c.2375A>C (p.Glu792Ala) c.2441A>C (p.Glu814Ala) c.2438A>C (p.Glu813Ala) c.2411A>C (p.Glu804Ala) c.2357A>C (p.Glu786Ala) c.2330A>C (p.Glu777Ala) c.2315A>C (p.Glu772Ala) c.1922A>C (p.Glu641Ala) c.2384A>C (p.Glu795Ala) c.2321A>C (p.Glu774Ala) c.2318A>C (p.Glu773Ala) c.2276A>C (p.Glu759Ala) c.1349A>C (p.Glu450Ala) | |
20 | g.63406930T= | CA2374774312 | KCNQ2 | c.2387A= (p.Glu796=) c.2333A= (p.Glu778=) c.1730A= (p.Glu577=) c.2240A= (p.Glu747=) c.1901A= (p.Glu634=) c.2249A= (p.Glu750=) c.2241+116A= (n.2241+116A=) c.2205+116A= (n.2205+116A=) c.2279A= (p.Glu760=) c.2133+116A= (n.2133+116A=) c.1680-6087A= (n.1680-6087A=) c.2375A= (p.Glu792=) c.2441A= (p.Glu814=) c.2438A= (p.Glu813=) c.2411A= (p.Glu804=) c.2357A= (p.Glu786=) c.2330A= (p.Glu777=) c.2315A= (p.Glu772=) c.1922A= (p.Glu641=) c.2384A= (p.Glu795=) c.2321A= (p.Glu774=) c.2318A= (p.Glu773=) c.2276A= (p.Glu759=) c.1349A= (p.Glu450=) | |
20 | g.63406931C>A | CA409637718 | KCNQ2 | c.2386G>T (p.Glu796Ter) c.2332G>T (p.Glu778Ter) c.1729G>T (p.Glu577Ter) c.2239G>T (p.Glu747Ter) c.1900G>T (p.Glu634Ter) c.2248G>T (p.Glu750Ter) c.2241+115G>T (n.2241+115G>T) c.2205+115G>T (n.2205+115G>T) c.2278G>T (p.Glu760Ter) c.2133+115G>T (n.2133+115G>T) c.1680-6088G>T (n.1680-6088G>T) c.2374G>T (p.Glu792Ter) c.2440G>T (p.Glu814Ter) c.2437G>T (p.Glu813Ter) c.2410G>T (p.Glu804Ter) c.2356G>T (p.Glu786Ter) c.2329G>T (p.Glu777Ter) c.2314G>T (p.Glu772Ter) c.1921G>T (p.Glu641Ter) c.2383G>T (p.Glu795Ter) c.2320G>T (p.Glu774Ter) c.2317G>T (p.Glu773Ter) c.2275G>T (p.Glu759Ter) c.1348G>T (p.Glu450Ter) | gnomAD v4 |
20 | g.63406931C= | CA2374774313 | KCNQ2 | c.2386G= (p.Glu796=) c.2332G= (p.Glu778=) c.1729G= (p.Glu577=) c.2239G= (p.Glu747=) c.1900G= (p.Glu634=) c.2248G= (p.Glu750=) c.2241+115G= (n.2241+115G=) c.2205+115G= (n.2205+115G=) c.2278G= (p.Glu760=) c.2133+115G= (n.2133+115G=) c.1680-6088G= (n.1680-6088G=) c.2374G= (p.Glu792=) c.2440G= (p.Glu814=) c.2437G= (p.Glu813=) c.2410G= (p.Glu804=) c.2356G= (p.Glu786=) c.2329G= (p.Glu777=) c.2314G= (p.Glu772=) c.1921G= (p.Glu641=) c.2383G= (p.Glu795=) c.2320G= (p.Glu774=) c.2317G= (p.Glu773=) c.2275G= (p.Glu759=) c.1348G= (p.Glu450=) | |
20 | g.63406931C>G | CA409637717 | KCNQ2 | c.2386G>C (p.Glu796Gln) c.2332G>C (p.Glu778Gln) c.1729G>C (p.Glu577Gln) c.2239G>C (p.Glu747Gln) c.1900G>C (p.Glu634Gln) c.2248G>C (p.Glu750Gln) c.2241+115G>C (n.2241+115G>C) c.2205+115G>C (n.2205+115G>C) c.2278G>C (p.Glu760Gln) c.2133+115G>C (n.2133+115G>C) c.1680-6088G>C (n.1680-6088G>C) c.2374G>C (p.Glu792Gln) c.2440G>C (p.Glu814Gln) c.2437G>C (p.Glu813Gln) c.2410G>C (p.Glu804Gln) c.2356G>C (p.Glu786Gln) c.2329G>C (p.Glu777Gln) c.2314G>C (p.Glu772Gln) c.1921G>C (p.Glu641Gln) c.2383G>C (p.Glu795Gln) c.2320G>C (p.Glu774Gln) c.2317G>C (p.Glu773Gln) c.2275G>C (p.Glu759Gln) c.1348G>C (p.Glu450Gln) | |
20 | g.63406931C>T | CA409637713 | KCNQ2 | c.2386G>A (p.Glu796Lys) c.2332G>A (p.Glu778Lys) c.1729G>A (p.Glu577Lys) c.2239G>A (p.Glu747Lys) c.1900G>A (p.Glu634Lys) c.2248G>A (p.Glu750Lys) c.2241+115G>A (n.2241+115G>A) c.2205+115G>A (n.2205+115G>A) c.2278G>A (p.Glu760Lys) c.2133+115G>A (n.2133+115G>A) c.1680-6088G>A (n.1680-6088G>A) c.2374G>A (p.Glu792Lys) c.2440G>A (p.Glu814Lys) c.2437G>A (p.Glu813Lys) c.2410G>A (p.Glu804Lys) c.2356G>A (p.Glu786Lys) c.2329G>A (p.Glu777Lys) c.2314G>A (p.Glu772Lys) c.1921G>A (p.Glu641Lys) c.2383G>A (p.Glu795Lys) c.2320G>A (p.Glu774Lys) c.2317G>A (p.Glu773Lys) c.2275G>A (p.Glu759Lys) c.1348G>A (p.Glu450Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406932G>A | CA16609050 | KCNQ2 | c.2385C>T (p.Pro795=) c.2331C>T (p.Pro777=) c.1728C>T (p.Pro576=) c.2238C>T (p.Pro746=) c.1899C>T (p.Pro633=) c.2247C>T (p.Pro749=) c.2241+114C>T (n.2241+114C>T) c.2205+114C>T (n.2205+114C>T) c.2277C>T (p.Pro759=) c.2133+114C>T (n.2133+114C>T) c.1680-6089C>T (n.1680-6089C>T) c.2373C>T (p.Pro791=) c.2439C>T (p.Pro813=) c.2436C>T (p.Pro812=) c.2409C>T (p.Pro803=) c.2355C>T (p.Pro785=) c.2328C>T (p.Pro776=) c.2313C>T (p.Pro771=) c.1920C>T (p.Pro640=) c.2382C>T (p.Pro794=) c.2319C>T (p.Pro773=) c.2316C>T (p.Pro772=) c.2274C>T (p.Pro758=) c.1347C>T (p.Pro449=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406932G>C | CA511339296 | KCNQ2 | c.2385C>G (p.Pro795=) c.2331C>G (p.Pro777=) c.1728C>G (p.Pro576=) c.2238C>G (p.Pro746=) c.1899C>G (p.Pro633=) c.2247C>G (p.Pro749=) c.2241+114C>G (n.2241+114C>G) c.2205+114C>G (n.2205+114C>G) c.2277C>G (p.Pro759=) c.2133+114C>G (n.2133+114C>G) c.1680-6089C>G (n.1680-6089C>G) c.2373C>G (p.Pro791=) c.2439C>G (p.Pro813=) c.2436C>G (p.Pro812=) c.2409C>G (p.Pro803=) c.2355C>G (p.Pro785=) c.2328C>G (p.Pro776=) c.2313C>G (p.Pro771=) c.1920C>G (p.Pro640=) c.2382C>G (p.Pro794=) c.2319C>G (p.Pro773=) c.2316C>G (p.Pro772=) c.2274C>G (p.Pro758=) c.1347C>G (p.Pro449=) | gnomAD v4 |
20 | g.63406932G= | CA2374774314 | KCNQ2 | c.2385C= (p.Pro795=) c.2331C= (p.Pro777=) c.1728C= (p.Pro576=) c.2238C= (p.Pro746=) c.1899C= (p.Pro633=) c.2247C= (p.Pro749=) c.2241+114C= (n.2241+114C=) c.2205+114C= (n.2205+114C=) c.2277C= (p.Pro759=) c.2133+114C= (n.2133+114C=) c.1680-6089C= (n.1680-6089C=) c.2373C= (p.Pro791=) c.2439C= (p.Pro813=) c.2436C= (p.Pro812=) c.2409C= (p.Pro803=) c.2355C= (p.Pro785=) c.2328C= (p.Pro776=) c.2313C= (p.Pro771=) c.1920C= (p.Pro640=) c.2382C= (p.Pro794=) c.2319C= (p.Pro773=) c.2316C= (p.Pro772=) c.2274C= (p.Pro758=) c.1347C= (p.Pro449=) | |
20 | g.63406932G>T | CA511339297 | KCNQ2 | c.2385C>A (p.Pro795=) c.2331C>A (p.Pro777=) c.1728C>A (p.Pro576=) c.2238C>A (p.Pro746=) c.1899C>A (p.Pro633=) c.2247C>A (p.Pro749=) c.2241+114C>A (n.2241+114C>A) c.2205+114C>A (n.2205+114C>A) c.2277C>A (p.Pro759=) c.2133+114C>A (n.2133+114C>A) c.1680-6089C>A (n.1680-6089C>A) c.2373C>A (p.Pro791=) c.2439C>A (p.Pro813=) c.2436C>A (p.Pro812=) c.2409C>A (p.Pro803=) c.2355C>A (p.Pro785=) c.2328C>A (p.Pro776=) c.2313C>A (p.Pro771=) c.1920C>A (p.Pro640=) c.2382C>A (p.Pro794=) c.2319C>A (p.Pro773=) c.2316C>A (p.Pro772=) c.2274C>A (p.Pro758=) c.1347C>A (p.Pro449=) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406937dup | CA2580098408 | KCNQ2 | c.2385dup (p.Glu796ArgfsTer?) c.2331dup (p.Glu778ArgfsTer?) c.1728dup (p.Glu577ArgfsTer?) c.2238dup (p.Glu747ArgfsTer?) c.1899dup (p.Glu634ArgfsTer?) c.2247dup (p.Glu750ArgfsTer?) c.2241+114dup (n.2241+114dup) c.2205+114dup (n.2205+114dup) c.2277dup (p.Glu760ArgfsTer?) c.2133+114dup (n.2133+114dup) c.1680-6089dup (n.1680-6089dup) c.2373dup (p.Glu792ArgfsTer?) c.2439dup (p.Glu814ArgfsTer?) c.2436dup (p.Glu813ArgfsTer?) c.2409dup (p.Glu804ArgfsTer?) c.2355dup (p.Glu786ArgfsTer?) c.2328dup (p.Glu777ArgfsTer?) c.2313dup (p.Glu772ArgfsTer?) c.1920dup (p.Glu641ArgfsTer?) c.2382dup (p.Glu795ArgfsTer?) c.2319dup (p.Glu774ArgfsTer?) c.2316dup (p.Glu773ArgfsTer?) c.2274dup (p.Glu759ArgfsTer?) c.1347dup (p.Glu450ArgfsTer?) | ClinVar gnomAD v4 |
20 | g.63406936_63406937dup | CA2573130266 | KCNQ2 | c.2384_2385dup (p.Glu796ProfsTer?) c.2330_2331dup (p.Glu778ProfsTer?) c.1727_1728dup (p.Glu577ProfsTer?) c.2237_2238dup (p.Glu747ProfsTer?) c.1898_1899dup (p.Glu634ProfsTer?) c.2246_2247dup (p.Glu750ProfsTer?) c.2241+113_2241+114dup (n.2241+113_2241+114dup) c.2205+113_2205+114dup (n.2205+113_2205+114dup) c.2276_2277dup (p.Glu760ProfsTer?) c.2133+113_2133+114dup (n.2133+113_2133+114dup) c.1680-6090_1680-6089dup (n.1680-6090_1680-6089dup) c.2372_2373dup (p.Glu792ProfsTer?) c.2438_2439dup (p.Glu814ProfsTer?) c.2435_2436dup (p.Glu813ProfsTer?) c.2408_2409dup (p.Glu804ProfsTer?) c.2354_2355dup (p.Glu786ProfsTer?) c.2327_2328dup (p.Glu777ProfsTer?) c.2312_2313dup (p.Glu772ProfsTer?) c.1919_1920dup (p.Glu641ProfsTer?) c.2381_2382dup (p.Glu795ProfsTer?) c.2318_2319dup (p.Glu774ProfsTer?) c.2315_2316dup (p.Glu773ProfsTer?) c.2273_2274dup (p.Glu759ProfsTer?) c.1346_1347dup (p.Glu450ProfsTer?) | ClinVar |
20 | g.63406937del | CA645608743 | KCNQ2 | c.2385del (p.Glu796ArgfsTer?) c.2331del (p.Glu778ArgfsTer?) c.1728del (p.Glu577ArgfsTer?) c.2238del (p.Glu747ArgfsTer?) c.1899del (p.Glu634ArgfsTer?) c.2247del (p.Glu750ArgfsTer?) c.2241+114del (n.2241+114del) c.2205+114del (n.2205+114del) c.2277del (p.Glu760ArgfsTer?) c.2133+114del (n.2133+114del) c.1680-6089del (n.1680-6089del) c.2373del (p.Glu792ArgfsTer?) c.2439del (p.Glu814ArgfsTer?) c.2436del (p.Glu813ArgfsTer?) c.2409del (p.Glu804ArgfsTer?) c.2355del (p.Glu786ArgfsTer?) c.2328del (p.Glu777ArgfsTer?) c.2313del (p.Glu772ArgfsTer?) c.1920del (p.Glu641ArgfsTer?) c.2382del (p.Glu795ArgfsTer?) c.2319del (p.Glu774ArgfsTer?) c.2316del (p.Glu773ArgfsTer?) c.2274del (p.Glu759ArgfsTer?) c.1347del (p.Glu450ArgfsTer?) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406933G>A | CA9958097 | KCNQ2 | c.2384C>T (p.Pro795Leu) c.2330C>T (p.Pro777Leu) c.1727C>T (p.Pro576Leu) c.2237C>T (p.Pro746Leu) c.1898C>T (p.Pro633Leu) c.2246C>T (p.Pro749Leu) c.2241+113C>T (n.2241+113C>T) c.2205+113C>T (n.2205+113C>T) c.2276C>T (p.Pro759Leu) c.2133+113C>T (n.2133+113C>T) c.1680-6090C>T (n.1680-6090C>T) c.2372C>T (p.Pro791Leu) c.2438C>T (p.Pro813Leu) c.2435C>T (p.Pro812Leu) c.2408C>T (p.Pro803Leu) c.2354C>T (p.Pro785Leu) c.2327C>T (p.Pro776Leu) c.2312C>T (p.Pro771Leu) c.1919C>T (p.Pro640Leu) c.2381C>T (p.Pro794Leu) c.2318C>T (p.Pro773Leu) c.2315C>T (p.Pro772Leu) c.2273C>T (p.Pro758Leu) c.1346C>T (p.Pro449Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406933G>C | CA315321 | KCNQ2 | c.2384C>G (p.Pro795Arg) c.2330C>G (p.Pro777Arg) c.1727C>G (p.Pro576Arg) c.2237C>G (p.Pro746Arg) c.1898C>G (p.Pro633Arg) c.2246C>G (p.Pro749Arg) c.2241+113C>G (n.2241+113C>G) c.2205+113C>G (n.2205+113C>G) c.2276C>G (p.Pro759Arg) c.2133+113C>G (n.2133+113C>G) c.1680-6090C>G (n.1680-6090C>G) c.2372C>G (p.Pro791Arg) c.2438C>G (p.Pro813Arg) c.2435C>G (p.Pro812Arg) c.2408C>G (p.Pro803Arg) c.2354C>G (p.Pro785Arg) c.2327C>G (p.Pro776Arg) c.2312C>G (p.Pro771Arg) c.1919C>G (p.Pro640Arg) c.2381C>G (p.Pro794Arg) c.2318C>G (p.Pro773Arg) c.2315C>G (p.Pro772Arg) c.2273C>G (p.Pro758Arg) c.1346C>G (p.Pro449Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406933G= | CA2374774315 | KCNQ2 | c.2384C= (p.Pro795=) c.2330C= (p.Pro777=) c.1727C= (p.Pro576=) c.2237C= (p.Pro746=) c.1898C= (p.Pro633=) c.2246C= (p.Pro749=) c.2241+113C= (n.2241+113C=) c.2205+113C= (n.2205+113C=) c.2276C= (p.Pro759=) c.2133+113C= (n.2133+113C=) c.1680-6090C= (n.1680-6090C=) c.2372C= (p.Pro791=) c.2438C= (p.Pro813=) c.2435C= (p.Pro812=) c.2408C= (p.Pro803=) c.2354C= (p.Pro785=) c.2327C= (p.Pro776=) c.2312C= (p.Pro771=) c.1919C= (p.Pro640=) c.2381C= (p.Pro794=) c.2318C= (p.Pro773=) c.2315C= (p.Pro772=) c.2273C= (p.Pro758=) c.1346C= (p.Pro449=) | |
20 | g.63406933G>T | CA409637726 | KCNQ2 | c.2384C>A (p.Pro795His) c.2330C>A (p.Pro777His) c.1727C>A (p.Pro576His) c.2237C>A (p.Pro746His) c.1898C>A (p.Pro633His) c.2246C>A (p.Pro749His) c.2241+113C>A (n.2241+113C>A) c.2205+113C>A (n.2205+113C>A) c.2276C>A (p.Pro759His) c.2133+113C>A (n.2133+113C>A) c.1680-6090C>A (n.1680-6090C>A) c.2372C>A (p.Pro791His) c.2438C>A (p.Pro813His) c.2435C>A (p.Pro812His) c.2408C>A (p.Pro803His) c.2354C>A (p.Pro785His) c.2327C>A (p.Pro776His) c.2312C>A (p.Pro771His) c.1919C>A (p.Pro640His) c.2381C>A (p.Pro794His) c.2318C>A (p.Pro773His) c.2315C>A (p.Pro772His) c.2273C>A (p.Pro758His) c.1346C>A (p.Pro449His) | gnomAD v4 |
20 | g.63406934G>A | CA315318 | KCNQ2 | c.2383C>T (p.Pro795Ser) c.2329C>T (p.Pro777Ser) c.1726C>T (p.Pro576Ser) c.2236C>T (p.Pro746Ser) c.1897C>T (p.Pro633Ser) c.2245C>T (p.Pro749Ser) c.2241+112C>T (n.2241+112C>T) c.2205+112C>T (n.2205+112C>T) c.2275C>T (p.Pro759Ser) c.2133+112C>T (n.2133+112C>T) c.1680-6091C>T (n.1680-6091C>T) c.2371C>T (p.Pro791Ser) c.2437C>T (p.Pro813Ser) c.2434C>T (p.Pro812Ser) c.2407C>T (p.Pro803Ser) c.2353C>T (p.Pro785Ser) c.2326C>T (p.Pro776Ser) c.2311C>T (p.Pro771Ser) c.1918C>T (p.Pro640Ser) c.2380C>T (p.Pro794Ser) c.2317C>T (p.Pro773Ser) c.2314C>T (p.Pro772Ser) c.2272C>T (p.Pro758Ser) c.1345C>T (p.Pro449Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406934G>C | CA409637731 | KCNQ2 | c.2383C>G (p.Pro795Ala) c.2329C>G (p.Pro777Ala) c.1726C>G (p.Pro576Ala) c.2236C>G (p.Pro746Ala) c.1897C>G (p.Pro633Ala) c.2245C>G (p.Pro749Ala) c.2241+112C>G (n.2241+112C>G) c.2205+112C>G (n.2205+112C>G) c.2275C>G (p.Pro759Ala) c.2133+112C>G (n.2133+112C>G) c.1680-6091C>G (n.1680-6091C>G) c.2371C>G (p.Pro791Ala) c.2437C>G (p.Pro813Ala) c.2434C>G (p.Pro812Ala) c.2407C>G (p.Pro803Ala) c.2353C>G (p.Pro785Ala) c.2326C>G (p.Pro776Ala) c.2311C>G (p.Pro771Ala) c.1918C>G (p.Pro640Ala) c.2380C>G (p.Pro794Ala) c.2317C>G (p.Pro773Ala) c.2314C>G (p.Pro772Ala) c.2272C>G (p.Pro758Ala) c.1345C>G (p.Pro449Ala) | |
20 | g.63406934G= | CA2374774316 | KCNQ2 | c.2383C= (p.Pro795=) c.2329C= (p.Pro777=) c.1726C= (p.Pro576=) c.2236C= (p.Pro746=) c.1897C= (p.Pro633=) c.2245C= (p.Pro749=) c.2241+112C= (n.2241+112C=) c.2205+112C= (n.2205+112C=) c.2275C= (p.Pro759=) c.2133+112C= (n.2133+112C=) c.1680-6091C= (n.1680-6091C=) c.2371C= (p.Pro791=) c.2437C= (p.Pro813=) c.2434C= (p.Pro812=) c.2407C= (p.Pro803=) c.2353C= (p.Pro785=) c.2326C= (p.Pro776=) c.2311C= (p.Pro771=) c.1918C= (p.Pro640=) c.2380C= (p.Pro794=) c.2317C= (p.Pro773=) c.2314C= (p.Pro772=) c.2272C= (p.Pro758=) c.1345C= (p.Pro449=) | |
20 | g.63406934G>T | CA409637734 | KCNQ2 | c.2383C>A (p.Pro795Thr) c.2329C>A (p.Pro777Thr) c.1726C>A (p.Pro576Thr) c.2236C>A (p.Pro746Thr) c.1897C>A (p.Pro633Thr) c.2245C>A (p.Pro749Thr) c.2241+112C>A (n.2241+112C>A) c.2205+112C>A (n.2205+112C>A) c.2275C>A (p.Pro759Thr) c.2133+112C>A (n.2133+112C>A) c.1680-6091C>A (n.1680-6091C>A) c.2371C>A (p.Pro791Thr) c.2437C>A (p.Pro813Thr) c.2434C>A (p.Pro812Thr) c.2407C>A (p.Pro803Thr) c.2353C>A (p.Pro785Thr) c.2326C>A (p.Pro776Thr) c.2311C>A (p.Pro771Thr) c.1918C>A (p.Pro640Thr) c.2380C>A (p.Pro794Thr) c.2317C>A (p.Pro773Thr) c.2314C>A (p.Pro772Thr) c.2272C>A (p.Pro758Thr) c.1345C>A (p.Pro449Thr) | |
20 | g.63406935G>A | CA511339300 | KCNQ2 | c.2382C>T (p.Pro794=) c.2328C>T (p.Pro776=) c.1725C>T (p.Pro575=) c.2235C>T (p.Pro745=) c.1896C>T (p.Pro632=) c.2244C>T (p.Pro748=) c.2241+111C>T (n.2241+111C>T) c.2205+111C>T (n.2205+111C>T) c.2274C>T (p.Pro758=) c.2133+111C>T (n.2133+111C>T) c.1680-6092C>T (n.1680-6092C>T) c.2370C>T (p.Pro790=) c.2436C>T (p.Pro812=) c.2433C>T (p.Pro811=) c.2406C>T (p.Pro802=) c.2352C>T (p.Pro784=) c.2325C>T (p.Pro775=) c.2310C>T (p.Pro770=) c.1917C>T (p.Pro639=) c.2379C>T (p.Pro793=) c.2316C>T (p.Pro772=) c.2313C>T (p.Pro771=) c.2271C>T (p.Pro757=) c.1344C>T (p.Pro448=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406935G>C | CA511339301 | KCNQ2 | c.2382C>G (p.Pro794=) c.2328C>G (p.Pro776=) c.1725C>G (p.Pro575=) c.2235C>G (p.Pro745=) c.1896C>G (p.Pro632=) c.2244C>G (p.Pro748=) c.2241+111C>G (n.2241+111C>G) c.2205+111C>G (n.2205+111C>G) c.2274C>G (p.Pro758=) c.2133+111C>G (n.2133+111C>G) c.1680-6092C>G (n.1680-6092C>G) c.2370C>G (p.Pro790=) c.2436C>G (p.Pro812=) c.2433C>G (p.Pro811=) c.2406C>G (p.Pro802=) c.2352C>G (p.Pro784=) c.2325C>G (p.Pro775=) c.2310C>G (p.Pro770=) c.1917C>G (p.Pro639=) c.2379C>G (p.Pro793=) c.2316C>G (p.Pro772=) c.2313C>G (p.Pro771=) c.2271C>G (p.Pro757=) c.1344C>G (p.Pro448=) | |
20 | g.63406935G= | CA2374774317 | KCNQ2 | c.2382C= (p.Pro794=) c.2328C= (p.Pro776=) c.1725C= (p.Pro575=) c.2235C= (p.Pro745=) c.1896C= (p.Pro632=) c.2244C= (p.Pro748=) c.2241+111C= (n.2241+111C=) c.2205+111C= (n.2205+111C=) c.2274C= (p.Pro758=) c.2133+111C= (n.2133+111C=) c.1680-6092C= (n.1680-6092C=) c.2370C= (p.Pro790=) c.2436C= (p.Pro812=) c.2433C= (p.Pro811=) c.2406C= (p.Pro802=) c.2352C= (p.Pro784=) c.2325C= (p.Pro775=) c.2310C= (p.Pro770=) c.1917C= (p.Pro639=) c.2379C= (p.Pro793=) c.2316C= (p.Pro772=) c.2313C= (p.Pro771=) c.2271C= (p.Pro757=) c.1344C= (p.Pro448=) | |
20 | g.63406935G>T | CA511339302 | KCNQ2 | c.2382C>A (p.Pro794=) c.2328C>A (p.Pro776=) c.1725C>A (p.Pro575=) c.2235C>A (p.Pro745=) c.1896C>A (p.Pro632=) c.2244C>A (p.Pro748=) c.2241+111C>A (n.2241+111C>A) c.2205+111C>A (n.2205+111C>A) c.2274C>A (p.Pro758=) c.2133+111C>A (n.2133+111C>A) c.1680-6092C>A (n.1680-6092C>A) c.2370C>A (p.Pro790=) c.2436C>A (p.Pro812=) c.2433C>A (p.Pro811=) c.2406C>A (p.Pro802=) c.2352C>A (p.Pro784=) c.2325C>A (p.Pro775=) c.2310C>A (p.Pro770=) c.1917C>A (p.Pro639=) c.2379C>A (p.Pro793=) c.2316C>A (p.Pro772=) c.2313C>A (p.Pro771=) c.2271C>A (p.Pro757=) c.1344C>A (p.Pro448=) | gnomAD v4 |
20 | g.63406935_63406937delinsGGG | CA2374774318 | KCNQ2 | c.2380_2382delinsCCC (p.Pro794=) c.2326_2328delinsCCC (p.Pro776=) c.1723_1725delinsCCC (p.Pro575=) c.2233_2235delinsCCC (p.Pro745=) c.1894_1896delinsCCC (p.Pro632=) c.2242_2244delinsCCC (p.Pro748=) c.2241+109_2241+111delinsCCC (n.2241+109_2241+111delinsCCC) c.2205+109_2205+111delinsCCC (n.2205+109_2205+111delinsCCC) c.2272_2274delinsCCC (p.Pro758=) c.2133+109_2133+111delinsCCC (n.2133+109_2133+111delinsCCC) c.1680-6094_1680-6092delinsCCC (n.1680-6094_1680-6092delinsCCC) c.2368_2370delinsCCC (p.Pro790=) c.2434_2436delinsCCC (p.Pro812=) c.2431_2433delinsCCC (p.Pro811=) c.2404_2406delinsCCC (p.Pro802=) c.2350_2352delinsCCC (p.Pro784=) c.2323_2325delinsCCC (p.Pro775=) c.2308_2310delinsCCC (p.Pro770=) c.1915_1917delinsCCC (p.Pro639=) c.2377_2379delinsCCC (p.Pro793=) c.2314_2316delinsCCC (p.Pro772=) c.2311_2313delinsCCC (p.Pro771=) c.2269_2271delinsCCC (p.Pro757=) c.1342_1344delinsCCC (p.Pro448=) | |
20 | g.63406936G>A | CA409637738 | KCNQ2 | c.2381C>T (p.Pro794Leu) c.2327C>T (p.Pro776Leu) c.1724C>T (p.Pro575Leu) c.2234C>T (p.Pro745Leu) c.1895C>T (p.Pro632Leu) c.2243C>T (p.Pro748Leu) c.2241+110C>T (n.2241+110C>T) c.2205+110C>T (n.2205+110C>T) c.2273C>T (p.Pro758Leu) c.2133+110C>T (n.2133+110C>T) c.1680-6093C>T (n.1680-6093C>T) c.2369C>T (p.Pro790Leu) c.2435C>T (p.Pro812Leu) c.2432C>T (p.Pro811Leu) c.2405C>T (p.Pro802Leu) c.2351C>T (p.Pro784Leu) c.2324C>T (p.Pro775Leu) c.2309C>T (p.Pro770Leu) c.1916C>T (p.Pro639Leu) c.2378C>T (p.Pro793Leu) c.2315C>T (p.Pro772Leu) c.2312C>T (p.Pro771Leu) c.2270C>T (p.Pro757Leu) c.1343C>T (p.Pro448Leu) | |
20 | g.63406936G>C | CA409637743 | KCNQ2 | c.2381C>G (p.Pro794Arg) c.2327C>G (p.Pro776Arg) c.1724C>G (p.Pro575Arg) c.2234C>G (p.Pro745Arg) c.1895C>G (p.Pro632Arg) c.2243C>G (p.Pro748Arg) c.2241+110C>G (n.2241+110C>G) c.2205+110C>G (n.2205+110C>G) c.2273C>G (p.Pro758Arg) c.2133+110C>G (n.2133+110C>G) c.1680-6093C>G (n.1680-6093C>G) c.2369C>G (p.Pro790Arg) c.2435C>G (p.Pro812Arg) c.2432C>G (p.Pro811Arg) c.2405C>G (p.Pro802Arg) c.2351C>G (p.Pro784Arg) c.2324C>G (p.Pro775Arg) c.2309C>G (p.Pro770Arg) c.1916C>G (p.Pro639Arg) c.2378C>G (p.Pro793Arg) c.2315C>G (p.Pro772Arg) c.2312C>G (p.Pro771Arg) c.2270C>G (p.Pro757Arg) c.1343C>G (p.Pro448Arg) | |
20 | g.63406936G= | CA2374774319 | KCNQ2 | c.2381C= (p.Pro794=) c.2327C= (p.Pro776=) c.1724C= (p.Pro575=) c.2234C= (p.Pro745=) c.1895C= (p.Pro632=) c.2243C= (p.Pro748=) c.2241+110C= (n.2241+110C=) c.2205+110C= (n.2205+110C=) c.2273C= (p.Pro758=) c.2133+110C= (n.2133+110C=) c.1680-6093C= (n.1680-6093C=) c.2369C= (p.Pro790=) c.2435C= (p.Pro812=) c.2432C= (p.Pro811=) c.2405C= (p.Pro802=) c.2351C= (p.Pro784=) c.2324C= (p.Pro775=) c.2309C= (p.Pro770=) c.1916C= (p.Pro639=) c.2378C= (p.Pro793=) c.2315C= (p.Pro772=) c.2312C= (p.Pro771=) c.2270C= (p.Pro757=) c.1343C= (p.Pro448=) | |
20 | g.63406936G>T | CA9958098 | KCNQ2 | c.2381C>A (p.Pro794His) c.2327C>A (p.Pro776His) c.1724C>A (p.Pro575His) c.2234C>A (p.Pro745His) c.1895C>A (p.Pro632His) c.2243C>A (p.Pro748His) c.2241+110C>A (n.2241+110C>A) c.2205+110C>A (n.2205+110C>A) c.2273C>A (p.Pro758His) c.2133+110C>A (n.2133+110C>A) c.1680-6093C>A (n.1680-6093C>A) c.2369C>A (p.Pro790His) c.2435C>A (p.Pro812His) c.2432C>A (p.Pro811His) c.2405C>A (p.Pro802His) c.2351C>A (p.Pro784His) c.2324C>A (p.Pro775His) c.2309C>A (p.Pro770His) c.1916C>A (p.Pro639His) c.2378C>A (p.Pro793His) c.2315C>A (p.Pro772His) c.2312C>A (p.Pro771His) c.2270C>A (p.Pro757His) c.1343C>A (p.Pro448His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406936_63406937delinsT | CA915952957 | KCNQ2 | c.2380_2381delinsA (p.Pro794ThrfsTer?) c.2326_2327delinsA (p.Pro776ThrfsTer?) c.1723_1724delinsA (p.Pro575ThrfsTer?) c.2233_2234delinsA (p.Pro745ThrfsTer?) c.1894_1895delinsA (p.Pro632ThrfsTer?) c.2242_2243delinsA (p.Pro748ThrfsTer?) c.2241+109_2241+110delinsA (n.2241+109_2241+110delinsA) c.2205+109_2205+110delinsA (n.2205+109_2205+110delinsA) c.2272_2273delinsA (p.Pro758ThrfsTer?) c.2133+109_2133+110delinsA (n.2133+109_2133+110delinsA) c.1680-6094_1680-6093delinsA (n.1680-6094_1680-6093delinsA) c.2368_2369delinsA (p.Pro790ThrfsTer?) c.2434_2435delinsA (p.Pro812ThrfsTer?) c.2431_2432delinsA (p.Pro811ThrfsTer?) c.2404_2405delinsA (p.Pro802ThrfsTer?) c.2350_2351delinsA (p.Pro784ThrfsTer?) c.2323_2324delinsA (p.Pro775ThrfsTer?) c.2308_2309delinsA (p.Pro770ThrfsTer?) c.1915_1916delinsA (p.Pro639ThrfsTer?) c.2377_2378delinsA (p.Pro793ThrfsTer?) c.2314_2315delinsA (p.Pro772ThrfsTer?) c.2311_2312delinsA (p.Pro771ThrfsTer?) c.2269_2270delinsA (p.Pro757ThrfsTer?) c.1342_1343delinsA (p.Pro448ThrfsTer?) | ClinVar dbSNP |
20 | g.63406937G>A | CA409637745 | KCNQ2 | c.2380C>T (p.Pro794Ser) c.2326C>T (p.Pro776Ser) c.1723C>T (p.Pro575Ser) c.2233C>T (p.Pro745Ser) c.1894C>T (p.Pro632Ser) c.2242C>T (p.Pro748Ser) c.2241+109C>T (n.2241+109C>T) c.2205+109C>T (n.2205+109C>T) c.2272C>T (p.Pro758Ser) c.2133+109C>T (n.2133+109C>T) c.1680-6094C>T (n.1680-6094C>T) c.2368C>T (p.Pro790Ser) c.2434C>T (p.Pro812Ser) c.2431C>T (p.Pro811Ser) c.2404C>T (p.Pro802Ser) c.2350C>T (p.Pro784Ser) c.2323C>T (p.Pro775Ser) c.2308C>T (p.Pro770Ser) c.1915C>T (p.Pro639Ser) c.2377C>T (p.Pro793Ser) c.2314C>T (p.Pro772Ser) c.2311C>T (p.Pro771Ser) c.2269C>T (p.Pro757Ser) c.1342C>T (p.Pro448Ser) | ClinVar gnomAD v4 |
20 | g.63406937G>C | CA409637748 | KCNQ2 | c.2380C>G (p.Pro794Ala) c.2326C>G (p.Pro776Ala) c.1723C>G (p.Pro575Ala) c.2233C>G (p.Pro745Ala) c.1894C>G (p.Pro632Ala) c.2242C>G (p.Pro748Ala) c.2241+109C>G (n.2241+109C>G) c.2205+109C>G (n.2205+109C>G) c.2272C>G (p.Pro758Ala) c.2133+109C>G (n.2133+109C>G) c.1680-6094C>G (n.1680-6094C>G) c.2368C>G (p.Pro790Ala) c.2434C>G (p.Pro812Ala) c.2431C>G (p.Pro811Ala) c.2404C>G (p.Pro802Ala) c.2350C>G (p.Pro784Ala) c.2323C>G (p.Pro775Ala) c.2308C>G (p.Pro770Ala) c.1915C>G (p.Pro639Ala) c.2377C>G (p.Pro793Ala) c.2314C>G (p.Pro772Ala) c.2311C>G (p.Pro771Ala) c.2269C>G (p.Pro757Ala) c.1342C>G (p.Pro448Ala) | |
20 | g.63406937G>T | CA409637749 | KCNQ2 | c.2380C>A (p.Pro794Thr) c.2326C>A (p.Pro776Thr) c.1723C>A (p.Pro575Thr) c.2233C>A (p.Pro745Thr) c.1894C>A (p.Pro632Thr) c.2242C>A (p.Pro748Thr) c.2241+109C>A (n.2241+109C>A) c.2205+109C>A (n.2205+109C>A) c.2272C>A (p.Pro758Thr) c.2133+109C>A (n.2133+109C>A) c.1680-6094C>A (n.1680-6094C>A) c.2368C>A (p.Pro790Thr) c.2434C>A (p.Pro812Thr) c.2431C>A (p.Pro811Thr) c.2404C>A (p.Pro802Thr) c.2350C>A (p.Pro784Thr) c.2323C>A (p.Pro775Thr) c.2308C>A (p.Pro770Thr) c.1915C>A (p.Pro639Thr) c.2377C>A (p.Pro793Thr) c.2314C>A (p.Pro772Thr) c.2311C>A (p.Pro771Thr) c.2269C>A (p.Pro757Thr) c.1342C>A (p.Pro448Thr) | gnomAD v4 |
20 | g.63406937_63406938insAC | CA2842871703 | KCNQ2 | c.2379_2380insGT (p.Pro794ValfsTer?) c.2325_2326insGT (p.Pro776ValfsTer?) c.1722_1723insGT (p.Pro575ValfsTer?) c.2232_2233insGT (p.Pro745ValfsTer?) c.1893_1894insGT (p.Pro632ValfsTer?) c.2241_2242insGT (p.Pro748ValfsTer?) c.2241+108_2241+109insGT (n.2241+108_2241+109insGT) c.2205+108_2205+109insGT (n.2205+108_2205+109insGT) c.2271_2272insGT (p.Pro758ValfsTer?) c.2133+108_2133+109insGT (n.2133+108_2133+109insGT) c.1680-6095_1680-6094insGT (n.1680-6095_1680-6094insGT) c.2367_2368insGT (p.Pro790ValfsTer?) c.2433_2434insGT (p.Pro812ValfsTer?) c.2430_2431insGT (p.Pro811ValfsTer?) c.2403_2404insGT (p.Pro802ValfsTer?) c.2349_2350insGT (p.Pro784ValfsTer?) c.2322_2323insGT (p.Pro775ValfsTer?) c.2307_2308insGT (p.Pro770ValfsTer?) c.1914_1915insGT (p.Pro639ValfsTer?) c.2376_2377insGT (p.Pro793ValfsTer?) c.2313_2314insGT (p.Pro772ValfsTer?) c.2310_2311insGT (p.Pro771ValfsTer?) c.2268_2269insGT (p.Pro757ValfsTer?) c.1341_1342insGT (p.Pro448ValfsTer?) | |
20 | g.63406938C>A | CA409637753 | KCNQ2 | c.2379G>T (p.Arg793Ser) c.2325G>T (p.Arg775Ser) c.1722G>T (p.Arg574Ser) c.2232G>T (p.Arg744Ser) c.1893G>T (p.Arg631Ser) c.2241G>T (p.Arg747Ser) c.2241+108G>T (n.2241+108G>T) c.2205+108G>T (n.2205+108G>T) c.2271G>T (p.Arg757Ser) c.2133+108G>T (n.2133+108G>T) c.1680-6095G>T (n.1680-6095G>T) c.2367G>T (p.Arg789Ser) c.2433G>T (p.Arg811Ser) c.2430G>T (p.Arg810Ser) c.2403G>T (p.Arg801Ser) c.2349G>T (p.Arg783Ser) c.2322G>T (p.Arg774Ser) c.2307G>T (p.Arg769Ser) c.1914G>T (p.Arg638Ser) c.2376G>T (p.Arg792Ser) c.2313G>T (p.Arg771Ser) c.2310G>T (p.Arg770Ser) c.2268G>T (p.Arg756Ser) c.1341G>T (p.Arg447Ser) | gnomAD v4 |
20 | g.63406938C= | CA2374774320 | KCNQ2 | c.2379G= (p.Arg793=) c.2325G= (p.Arg775=) c.1722G= (p.Arg574=) c.2232G= (p.Arg744=) c.1893G= (p.Arg631=) c.2241G= (p.Arg747=) c.2241+108G= (n.2241+108G=) c.2205+108G= (n.2205+108G=) c.2271G= (p.Arg757=) c.2133+108G= (n.2133+108G=) c.1680-6095G= (n.1680-6095G=) c.2367G= (p.Arg789=) c.2433G= (p.Arg811=) c.2430G= (p.Arg810=) c.2403G= (p.Arg801=) c.2349G= (p.Arg783=) c.2322G= (p.Arg774=) c.2307G= (p.Arg769=) c.1914G= (p.Arg638=) c.2376G= (p.Arg792=) c.2313G= (p.Arg771=) c.2310G= (p.Arg770=) c.2268G= (p.Arg756=) c.1341G= (p.Arg447=) | |
20 | g.63406938C>G | CA409637754 | KCNQ2 | c.2379G>C (p.Arg793Ser) c.2325G>C (p.Arg775Ser) c.1722G>C (p.Arg574Ser) c.2232G>C (p.Arg744Ser) c.1893G>C (p.Arg631Ser) c.2241G>C (p.Arg747Ser) c.2241+108G>C (n.2241+108G>C) c.2205+108G>C (n.2205+108G>C) c.2271G>C (p.Arg757Ser) c.2133+108G>C (n.2133+108G>C) c.1680-6095G>C (n.1680-6095G>C) c.2367G>C (p.Arg789Ser) c.2433G>C (p.Arg811Ser) c.2430G>C (p.Arg810Ser) c.2403G>C (p.Arg801Ser) c.2349G>C (p.Arg783Ser) c.2322G>C (p.Arg774Ser) c.2307G>C (p.Arg769Ser) c.1914G>C (p.Arg638Ser) c.2376G>C (p.Arg792Ser) c.2313G>C (p.Arg771Ser) c.2310G>C (p.Arg770Ser) c.2268G>C (p.Arg756Ser) c.1341G>C (p.Arg447Ser) | |
20 | g.63406938C>T | CA511339309 | KCNQ2 | c.2379G>A (p.Arg793=) c.2325G>A (p.Arg775=) c.1722G>A (p.Arg574=) c.2232G>A (p.Arg744=) c.1893G>A (p.Arg631=) c.2241G>A (p.Arg747=) c.2241+108G>A (n.2241+108G>A) c.2205+108G>A (n.2205+108G>A) c.2271G>A (p.Arg757=) c.2133+108G>A (n.2133+108G>A) c.1680-6095G>A (n.1680-6095G>A) c.2367G>A (p.Arg789=) c.2433G>A (p.Arg811=) c.2430G>A (p.Arg810=) c.2403G>A (p.Arg801=) c.2349G>A (p.Arg783=) c.2322G>A (p.Arg774=) c.2307G>A (p.Arg769=) c.1914G>A (p.Arg638=) c.2376G>A (p.Arg792=) c.2313G>A (p.Arg771=) c.2310G>A (p.Arg770=) c.2268G>A (p.Arg756=) c.1341G>A (p.Arg447=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406939C>A | CA409637758 | KCNQ2 | c.2378G>T (p.Arg793Met) c.2324G>T (p.Arg775Met) c.1721G>T (p.Arg574Met) c.2231G>T (p.Arg744Met) c.1892G>T (p.Arg631Met) c.2240G>T (p.Arg747Met) c.2241+107G>T (n.2241+107G>T) c.2205+107G>T (n.2205+107G>T) c.2270G>T (p.Arg757Met) c.2133+107G>T (n.2133+107G>T) c.1680-6096G>T (n.1680-6096G>T) c.2366G>T (p.Arg789Met) c.2432G>T (p.Arg811Met) c.2429G>T (p.Arg810Met) c.2402G>T (p.Arg801Met) c.2348G>T (p.Arg783Met) c.2321G>T (p.Arg774Met) c.2306G>T (p.Arg769Met) c.1913G>T (p.Arg638Met) c.2375G>T (p.Arg792Met) c.2312G>T (p.Arg771Met) c.2309G>T (p.Arg770Met) c.2267G>T (p.Arg756Met) c.1340G>T (p.Arg447Met) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406939C>G | CA409637761 | KCNQ2 | c.2378G>C (p.Arg793Thr) c.2324G>C (p.Arg775Thr) c.1721G>C (p.Arg574Thr) c.2231G>C (p.Arg744Thr) c.1892G>C (p.Arg631Thr) c.2240G>C (p.Arg747Thr) c.2241+107G>C (n.2241+107G>C) c.2205+107G>C (n.2205+107G>C) c.2270G>C (p.Arg757Thr) c.2133+107G>C (n.2133+107G>C) c.1680-6096G>C (n.1680-6096G>C) c.2366G>C (p.Arg789Thr) c.2432G>C (p.Arg811Thr) c.2429G>C (p.Arg810Thr) c.2402G>C (p.Arg801Thr) c.2348G>C (p.Arg783Thr) c.2321G>C (p.Arg774Thr) c.2306G>C (p.Arg769Thr) c.1913G>C (p.Arg638Thr) c.2375G>C (p.Arg792Thr) c.2312G>C (p.Arg771Thr) c.2309G>C (p.Arg770Thr) c.2267G>C (p.Arg756Thr) c.1340G>C (p.Arg447Thr) | |
20 | g.63406939C>T | CA409637763 | KCNQ2 | c.2378G>A (p.Arg793Lys) c.2324G>A (p.Arg775Lys) c.1721G>A (p.Arg574Lys) c.2231G>A (p.Arg744Lys) c.1892G>A (p.Arg631Lys) c.2240G>A (p.Arg747Lys) c.2241+107G>A (n.2241+107G>A) c.2205+107G>A (n.2205+107G>A) c.2270G>A (p.Arg757Lys) c.2133+107G>A (n.2133+107G>A) c.1680-6096G>A (n.1680-6096G>A) c.2366G>A (p.Arg789Lys) c.2432G>A (p.Arg811Lys) c.2429G>A (p.Arg810Lys) c.2402G>A (p.Arg801Lys) c.2348G>A (p.Arg783Lys) c.2321G>A (p.Arg774Lys) c.2306G>A (p.Arg769Lys) c.1913G>A (p.Arg638Lys) c.2375G>A (p.Arg792Lys) c.2312G>A (p.Arg771Lys) c.2309G>A (p.Arg770Lys) c.2267G>A (p.Arg756Lys) c.1340G>A (p.Arg447Lys) | gnomAD v4 |
20 | g.63406940T>A | CA409637767 | KCNQ2 | c.2377A>T (p.Arg793Trp) c.2323A>T (p.Arg775Trp) c.1720A>T (p.Arg574Trp) c.2230A>T (p.Arg744Trp) c.1891A>T (p.Arg631Trp) c.2239A>T (p.Arg747Trp) c.2241+106A>T (n.2241+106A>T) c.2205+106A>T (n.2205+106A>T) c.2269A>T (p.Arg757Trp) c.2133+106A>T (n.2133+106A>T) c.1680-6097A>T (n.1680-6097A>T) c.2365A>T (p.Arg789Trp) c.2431A>T (p.Arg811Trp) c.2428A>T (p.Arg810Trp) c.2401A>T (p.Arg801Trp) c.2347A>T (p.Arg783Trp) c.2320A>T (p.Arg774Trp) c.2305A>T (p.Arg769Trp) c.1912A>T (p.Arg638Trp) c.2374A>T (p.Arg792Trp) c.2311A>T (p.Arg771Trp) c.2308A>T (p.Arg770Trp) c.2266A>T (p.Arg756Trp) c.1339A>T (p.Arg447Trp) | gnomAD v4 |
20 | g.63406940T>C | CA409637769 | KCNQ2 | c.2377A>G (p.Arg793Gly) c.2323A>G (p.Arg775Gly) c.1720A>G (p.Arg574Gly) c.2230A>G (p.Arg744Gly) c.1891A>G (p.Arg631Gly) c.2239A>G (p.Arg747Gly) c.2241+106A>G (n.2241+106A>G) c.2205+106A>G (n.2205+106A>G) c.2269A>G (p.Arg757Gly) c.2133+106A>G (n.2133+106A>G) c.1680-6097A>G (n.1680-6097A>G) c.2365A>G (p.Arg789Gly) c.2431A>G (p.Arg811Gly) c.2428A>G (p.Arg810Gly) c.2401A>G (p.Arg801Gly) c.2347A>G (p.Arg783Gly) c.2320A>G (p.Arg774Gly) c.2305A>G (p.Arg769Gly) c.1912A>G (p.Arg638Gly) c.2374A>G (p.Arg792Gly) c.2311A>G (p.Arg771Gly) c.2308A>G (p.Arg770Gly) c.2266A>G (p.Arg756Gly) c.1339A>G (p.Arg447Gly) | ClinVar gnomAD v4 |
20 | g.63406940T>G | CA511339310 | KCNQ2 | c.2377A>C (p.Arg793=) c.2323A>C (p.Arg775=) c.1720A>C (p.Arg574=) c.2230A>C (p.Arg744=) c.1891A>C (p.Arg631=) c.2239A>C (p.Arg747=) c.2241+106A>C (n.2241+106A>C) c.2205+106A>C (n.2205+106A>C) c.2269A>C (p.Arg757=) c.2133+106A>C (n.2133+106A>C) c.1680-6097A>C (n.1680-6097A>C) c.2365A>C (p.Arg789=) c.2431A>C (p.Arg811=) c.2428A>C (p.Arg810=) c.2401A>C (p.Arg801=) c.2347A>C (p.Arg783=) c.2320A>C (p.Arg774=) c.2305A>C (p.Arg769=) c.1912A>C (p.Arg638=) c.2374A>C (p.Arg792=) c.2311A>C (p.Arg771=) c.2308A>C (p.Arg770=) c.2266A>C (p.Arg756=) c.1339A>C (p.Arg447=) | gnomAD v4 |
20 | g.63406941G>A | CA9958099 | KCNQ2 | c.2376C>T (p.Cys792=) c.2322C>T (p.Cys774=) c.1719C>T (p.Cys573=) c.2229C>T (p.Cys743=) c.1890C>T (p.Cys630=) c.2238C>T (p.Cys746=) c.2241+105C>T (n.2241+105C>T) c.2205+105C>T (n.2205+105C>T) c.2268C>T (p.Cys756=) c.2133+105C>T (n.2133+105C>T) c.1680-6098C>T (n.1680-6098C>T) c.2364C>T (p.Cys788=) c.2430C>T (p.Cys810=) c.2427C>T (p.Cys809=) c.2400C>T (p.Cys800=) c.2346C>T (p.Cys782=) c.2319C>T (p.Cys773=) c.2304C>T (p.Cys768=) c.1911C>T (p.Cys637=) c.2373C>T (p.Cys791=) c.2310C>T (p.Cys770=) c.2307C>T (p.Cys769=) c.2265C>T (p.Cys755=) c.1338C>T (p.Cys446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406941G>C | CA409637774 | KCNQ2 | c.2376C>G (p.Cys792Trp) c.2322C>G (p.Cys774Trp) c.1719C>G (p.Cys573Trp) c.2229C>G (p.Cys743Trp) c.1890C>G (p.Cys630Trp) c.2238C>G (p.Cys746Trp) c.2241+105C>G (n.2241+105C>G) c.2205+105C>G (n.2205+105C>G) c.2268C>G (p.Cys756Trp) c.2133+105C>G (n.2133+105C>G) c.1680-6098C>G (n.1680-6098C>G) c.2364C>G (p.Cys788Trp) c.2430C>G (p.Cys810Trp) c.2427C>G (p.Cys809Trp) c.2400C>G (p.Cys800Trp) c.2346C>G (p.Cys782Trp) c.2319C>G (p.Cys773Trp) c.2304C>G (p.Cys768Trp) c.1911C>G (p.Cys637Trp) c.2373C>G (p.Cys791Trp) c.2310C>G (p.Cys770Trp) c.2307C>G (p.Cys769Trp) c.2265C>G (p.Cys755Trp) c.1338C>G (p.Cys446Trp) | |
20 | g.63406941G= | CA2374774321 | KCNQ2 | c.2376C= (p.Cys792=) c.2322C= (p.Cys774=) c.1719C= (p.Cys573=) c.2229C= (p.Cys743=) c.1890C= (p.Cys630=) c.2238C= (p.Cys746=) c.2241+105C= (n.2241+105C=) c.2205+105C= (n.2205+105C=) c.2268C= (p.Cys756=) c.2133+105C= (n.2133+105C=) c.1680-6098C= (n.1680-6098C=) c.2364C= (p.Cys788=) c.2430C= (p.Cys810=) c.2427C= (p.Cys809=) c.2400C= (p.Cys800=) c.2346C= (p.Cys782=) c.2319C= (p.Cys773=) c.2304C= (p.Cys768=) c.1911C= (p.Cys637=) c.2373C= (p.Cys791=) c.2310C= (p.Cys770=) c.2307C= (p.Cys769=) c.2265C= (p.Cys755=) c.1338C= (p.Cys446=) | |
20 | g.63406941G>T | CA409637772 | KCNQ2 | c.2376C>A (p.Cys792Ter) c.2322C>A (p.Cys774Ter) c.1719C>A (p.Cys573Ter) c.2229C>A (p.Cys743Ter) c.1890C>A (p.Cys630Ter) c.2238C>A (p.Cys746Ter) c.2241+105C>A (n.2241+105C>A) c.2205+105C>A (n.2205+105C>A) c.2268C>A (p.Cys756Ter) c.2133+105C>A (n.2133+105C>A) c.1680-6098C>A (n.1680-6098C>A) c.2364C>A (p.Cys788Ter) c.2430C>A (p.Cys810Ter) c.2427C>A (p.Cys809Ter) c.2400C>A (p.Cys800Ter) c.2346C>A (p.Cys782Ter) c.2319C>A (p.Cys773Ter) c.2304C>A (p.Cys768Ter) c.1911C>A (p.Cys637Ter) c.2373C>A (p.Cys791Ter) c.2310C>A (p.Cys770Ter) c.2307C>A (p.Cys769Ter) c.2265C>A (p.Cys755Ter) c.1338C>A (p.Cys446Ter) | gnomAD v4 |
20 | g.63406941_63406942delinsAT | CA916083759 | KCNQ2 | c.2375_2376delinsAT (p.Cys792Tyr) c.2321_2322delinsAT (p.Cys774Tyr) c.1718_1719delinsAT (p.Cys573Tyr) c.2228_2229delinsAT (p.Cys743Tyr) c.1889_1890delinsAT (p.Cys630Tyr) c.2237_2238delinsAT (p.Cys746Tyr) c.2241+104_2241+105delinsAT (n.2241+104_2241+105delinsAT) c.2205+104_2205+105delinsAT (n.2205+104_2205+105delinsAT) c.2267_2268delinsAT (p.Cys756Tyr) c.2133+104_2133+105delinsAT (n.2133+104_2133+105delinsAT) c.1680-6099_1680-6098delinsAT (n.1680-6099_1680-6098delinsAT) c.2363_2364delinsAT (p.Cys788Tyr) c.2429_2430delinsAT (p.Cys810Tyr) c.2426_2427delinsAT (p.Cys809Tyr) c.2399_2400delinsAT (p.Cys800Tyr) c.2345_2346delinsAT (p.Cys782Tyr) c.2318_2319delinsAT (p.Cys773Tyr) c.2303_2304delinsAT (p.Cys768Tyr) c.1910_1911delinsAT (p.Cys637Tyr) c.2372_2373delinsAT (p.Cys791Tyr) c.2309_2310delinsAT (p.Cys770Tyr) c.2306_2307delinsAT (p.Cys769Tyr) c.2264_2265delinsAT (p.Cys755Tyr) c.1337_1338delinsAT (p.Cys446Tyr) | ClinVar dbSNP |
20 | g.63406941_63406942delinsGC | CA2374774322 | KCNQ2 | c.2375_2376delinsGC (p.Cys792=) c.2321_2322delinsGC (p.Cys774=) c.1718_1719delinsGC (p.Cys573=) c.2228_2229delinsGC (p.Cys743=) c.1889_1890delinsGC (p.Cys630=) c.2237_2238delinsGC (p.Cys746=) c.2241+104_2241+105delinsGC (n.2241+104_2241+105delinsGC) c.2205+104_2205+105delinsGC (n.2205+104_2205+105delinsGC) c.2267_2268delinsGC (p.Cys756=) c.2133+104_2133+105delinsGC (n.2133+104_2133+105delinsGC) c.1680-6099_1680-6098delinsGC (n.1680-6099_1680-6098delinsGC) c.2363_2364delinsGC (p.Cys788=) c.2429_2430delinsGC (p.Cys810=) c.2426_2427delinsGC (p.Cys809=) c.2399_2400delinsGC (p.Cys800=) c.2345_2346delinsGC (p.Cys782=) c.2318_2319delinsGC (p.Cys773=) c.2303_2304delinsGC (p.Cys768=) c.1910_1911delinsGC (p.Cys637=) c.2372_2373delinsGC (p.Cys791=) c.2309_2310delinsGC (p.Cys770=) c.2306_2307delinsGC (p.Cys769=) c.2264_2265delinsGC (p.Cys755=) c.1337_1338delinsGC (p.Cys446=) | |
20 | g.63406942del | CA2499225800 | KCNQ2 | c.2375del (p.Cys792SerfsTer?) c.2321del (p.Cys774SerfsTer?) c.1718del (p.Cys573SerfsTer?) c.2228del (p.Cys743SerfsTer?) c.1889del (p.Cys630SerfsTer?) c.2237del (p.Cys746SerfsTer?) c.2241+104del (n.2241+104del) c.2205+104del (n.2205+104del) c.2267del (p.Cys756SerfsTer?) c.2133+104del (n.2133+104del) c.1680-6099del (n.1680-6099del) c.2363del (p.Cys788SerfsTer?) c.2429del (p.Cys810SerfsTer?) c.2426del (p.Cys809SerfsTer?) c.2399del (p.Cys800SerfsTer?) c.2345del (p.Cys782SerfsTer?) c.2318del (p.Cys773SerfsTer?) c.2303del (p.Cys768SerfsTer?) c.1910del (p.Cys637SerfsTer?) c.2372del (p.Cys791SerfsTer?) c.2309del (p.Cys770SerfsTer?) c.2306del (p.Cys769SerfsTer?) c.2264del (p.Cys755SerfsTer?) c.1337del (p.Cys446SerfsTer?) | dbSNP |
20 | g.63406942C>A | CA409637781 | KCNQ2 | c.2375G>T (p.Cys792Phe) c.2321G>T (p.Cys774Phe) c.1718G>T (p.Cys573Phe) c.2228G>T (p.Cys743Phe) c.1889G>T (p.Cys630Phe) c.2237G>T (p.Cys746Phe) c.2241+104G>T (n.2241+104G>T) c.2205+104G>T (n.2205+104G>T) c.2267G>T (p.Cys756Phe) c.2133+104G>T (n.2133+104G>T) c.1680-6099G>T (n.1680-6099G>T) c.2363G>T (p.Cys788Phe) c.2429G>T (p.Cys810Phe) c.2426G>T (p.Cys809Phe) c.2399G>T (p.Cys800Phe) c.2345G>T (p.Cys782Phe) c.2318G>T (p.Cys773Phe) c.2303G>T (p.Cys768Phe) c.1910G>T (p.Cys637Phe) c.2372G>T (p.Cys791Phe) c.2309G>T (p.Cys770Phe) c.2306G>T (p.Cys769Phe) c.2264G>T (p.Cys755Phe) c.1337G>T (p.Cys446Phe) | ClinVar dbSNP gnomAD v4 |
20 | g.63406942C= | CA2374774323 | KCNQ2 | c.2375G= (p.Cys792=) c.2321G= (p.Cys774=) c.1718G= (p.Cys573=) c.2228G= (p.Cys743=) c.1889G= (p.Cys630=) c.2237G= (p.Cys746=) c.2241+104G= (n.2241+104G=) c.2205+104G= (n.2205+104G=) c.2267G= (p.Cys756=) c.2133+104G= (n.2133+104G=) c.1680-6099G= (n.1680-6099G=) c.2363G= (p.Cys788=) c.2429G= (p.Cys810=) c.2426G= (p.Cys809=) c.2399G= (p.Cys800=) c.2345G= (p.Cys782=) c.2318G= (p.Cys773=) c.2303G= (p.Cys768=) c.1910G= (p.Cys637=) c.2372G= (p.Cys791=) c.2309G= (p.Cys770=) c.2306G= (p.Cys769=) c.2264G= (p.Cys755=) c.1337G= (p.Cys446=) | |
20 | g.63406942C>G | CA409637786 | KCNQ2 | c.2375G>C (p.Cys792Ser) c.2321G>C (p.Cys774Ser) c.1718G>C (p.Cys573Ser) c.2228G>C (p.Cys743Ser) c.1889G>C (p.Cys630Ser) c.2237G>C (p.Cys746Ser) c.2241+104G>C (n.2241+104G>C) c.2205+104G>C (n.2205+104G>C) c.2267G>C (p.Cys756Ser) c.2133+104G>C (n.2133+104G>C) c.1680-6099G>C (n.1680-6099G>C) c.2363G>C (p.Cys788Ser) c.2429G>C (p.Cys810Ser) c.2426G>C (p.Cys809Ser) c.2399G>C (p.Cys800Ser) c.2345G>C (p.Cys782Ser) c.2318G>C (p.Cys773Ser) c.2303G>C (p.Cys768Ser) c.1910G>C (p.Cys637Ser) c.2372G>C (p.Cys791Ser) c.2309G>C (p.Cys770Ser) c.2306G>C (p.Cys769Ser) c.2264G>C (p.Cys755Ser) c.1337G>C (p.Cys446Ser) | gnomAD v4 |
20 | g.63406942C>T | CA9958100 | KCNQ2 | c.2375G>A (p.Cys792Tyr) c.2321G>A (p.Cys774Tyr) c.1718G>A (p.Cys573Tyr) c.2228G>A (p.Cys743Tyr) c.1889G>A (p.Cys630Tyr) c.2237G>A (p.Cys746Tyr) c.2241+104G>A (n.2241+104G>A) c.2205+104G>A (n.2205+104G>A) c.2267G>A (p.Cys756Tyr) c.2133+104G>A (n.2133+104G>A) c.1680-6099G>A (n.1680-6099G>A) c.2363G>A (p.Cys788Tyr) c.2429G>A (p.Cys810Tyr) c.2426G>A (p.Cys809Tyr) c.2399G>A (p.Cys800Tyr) c.2345G>A (p.Cys782Tyr) c.2318G>A (p.Cys773Tyr) c.2303G>A (p.Cys768Tyr) c.1910G>A (p.Cys637Tyr) c.2372G>A (p.Cys791Tyr) c.2309G>A (p.Cys770Tyr) c.2306G>A (p.Cys769Tyr) c.2264G>A (p.Cys755Tyr) c.1337G>A (p.Cys446Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406943A>C | CA409637790 | KCNQ2 | c.2374T>G (p.Cys792Gly) c.2320T>G (p.Cys774Gly) c.1717T>G (p.Cys573Gly) c.2227T>G (p.Cys743Gly) c.1888T>G (p.Cys630Gly) c.2236T>G (p.Cys746Gly) c.2241+103T>G (n.2241+103T>G) c.2205+103T>G (n.2205+103T>G) c.2266T>G (p.Cys756Gly) c.2133+103T>G (n.2133+103T>G) c.1680-6100T>G (n.1680-6100T>G) c.2362T>G (p.Cys788Gly) c.2428T>G (p.Cys810Gly) c.2425T>G (p.Cys809Gly) c.2398T>G (p.Cys800Gly) c.2344T>G (p.Cys782Gly) c.2317T>G (p.Cys773Gly) c.2302T>G (p.Cys768Gly) c.1909T>G (p.Cys637Gly) c.2371T>G (p.Cys791Gly) c.2308T>G (p.Cys770Gly) c.2305T>G (p.Cys769Gly) c.2263T>G (p.Cys755Gly) c.1336T>G (p.Cys446Gly) | |
20 | g.63406943A>G | CA409637793 | KCNQ2 | c.2374T>C (p.Cys792Arg) c.2320T>C (p.Cys774Arg) c.1717T>C (p.Cys573Arg) c.2227T>C (p.Cys743Arg) c.1888T>C (p.Cys630Arg) c.2236T>C (p.Cys746Arg) c.2241+103T>C (n.2241+103T>C) c.2205+103T>C (n.2205+103T>C) c.2266T>C (p.Cys756Arg) c.2133+103T>C (n.2133+103T>C) c.1680-6100T>C (n.1680-6100T>C) c.2362T>C (p.Cys788Arg) c.2428T>C (p.Cys810Arg) c.2425T>C (p.Cys809Arg) c.2398T>C (p.Cys800Arg) c.2344T>C (p.Cys782Arg) c.2317T>C (p.Cys773Arg) c.2302T>C (p.Cys768Arg) c.1909T>C (p.Cys637Arg) c.2371T>C (p.Cys791Arg) c.2308T>C (p.Cys770Arg) c.2305T>C (p.Cys769Arg) c.2263T>C (p.Cys755Arg) c.1336T>C (p.Cys446Arg) | gnomAD v4 |
20 | g.63406943A>T | CA409637796 | KCNQ2 | c.2374T>A (p.Cys792Ser) c.2320T>A (p.Cys774Ser) c.1717T>A (p.Cys573Ser) c.2227T>A (p.Cys743Ser) c.1888T>A (p.Cys630Ser) c.2236T>A (p.Cys746Ser) c.2241+103T>A (n.2241+103T>A) c.2205+103T>A (n.2205+103T>A) c.2266T>A (p.Cys756Ser) c.2133+103T>A (n.2133+103T>A) c.1680-6100T>A (n.1680-6100T>A) c.2362T>A (p.Cys788Ser) c.2428T>A (p.Cys810Ser) c.2425T>A (p.Cys809Ser) c.2398T>A (p.Cys800Ser) c.2344T>A (p.Cys782Ser) c.2317T>A (p.Cys773Ser) c.2302T>A (p.Cys768Ser) c.1909T>A (p.Cys637Ser) c.2371T>A (p.Cys791Ser) c.2308T>A (p.Cys770Ser) c.2305T>A (p.Cys769Ser) c.2263T>A (p.Cys755Ser) c.1336T>A (p.Cys446Ser) | gnomAD v4 |
20 | g.63406944G>A | CA511339315 | KCNQ2 | c.2373C>T (p.Gly791=) c.2319C>T (p.Gly773=) c.1716C>T (p.Gly572=) c.2226C>T (p.Gly742=) c.1887C>T (p.Gly629=) c.2235C>T (p.Gly745=) c.2241+102C>T (n.2241+102C>T) c.2205+102C>T (n.2205+102C>T) c.2265C>T (p.Gly755=) c.2133+102C>T (n.2133+102C>T) c.1680-6101C>T (n.1680-6101C>T) c.2361C>T (p.Gly787=) c.2427C>T (p.Gly809=) c.2424C>T (p.Gly808=) c.2397C>T (p.Gly799=) c.2343C>T (p.Gly781=) c.2316C>T (p.Gly772=) c.2301C>T (p.Gly767=) c.1908C>T (p.Gly636=) c.2370C>T (p.Gly790=) c.2307C>T (p.Gly769=) c.2304C>T (p.Gly768=) c.2262C>T (p.Gly754=) c.1335C>T (p.Gly445=) | |
20 | g.63406944G>C | CA511339316 | KCNQ2 | c.2373C>G (p.Gly791=) c.2319C>G (p.Gly773=) c.1716C>G (p.Gly572=) c.2226C>G (p.Gly742=) c.1887C>G (p.Gly629=) c.2235C>G (p.Gly745=) c.2241+102C>G (n.2241+102C>G) c.2205+102C>G (n.2205+102C>G) c.2265C>G (p.Gly755=) c.2133+102C>G (n.2133+102C>G) c.1680-6101C>G (n.1680-6101C>G) c.2361C>G (p.Gly787=) c.2427C>G (p.Gly809=) c.2424C>G (p.Gly808=) c.2397C>G (p.Gly799=) c.2343C>G (p.Gly781=) c.2316C>G (p.Gly772=) c.2301C>G (p.Gly767=) c.1908C>G (p.Gly636=) c.2370C>G (p.Gly790=) c.2307C>G (p.Gly769=) c.2304C>G (p.Gly768=) c.2262C>G (p.Gly754=) c.1335C>G (p.Gly445=) | |
20 | g.63406944G= | CA2374774324 | KCNQ2 | c.2373C= (p.Gly791=) c.2319C= (p.Gly773=) c.1716C= (p.Gly572=) c.2226C= (p.Gly742=) c.1887C= (p.Gly629=) c.2235C= (p.Gly745=) c.2241+102C= (n.2241+102C=) c.2205+102C= (n.2205+102C=) c.2265C= (p.Gly755=) c.2133+102C= (n.2133+102C=) c.1680-6101C= (n.1680-6101C=) c.2361C= (p.Gly787=) c.2427C= (p.Gly809=) c.2424C= (p.Gly808=) c.2397C= (p.Gly799=) c.2343C= (p.Gly781=) c.2316C= (p.Gly772=) c.2301C= (p.Gly767=) c.1908C= (p.Gly636=) c.2370C= (p.Gly790=) c.2307C= (p.Gly769=) c.2304C= (p.Gly768=) c.2262C= (p.Gly754=) c.1335C= (p.Gly445=) | |
20 | g.63406944G>T | CA511339317 | KCNQ2 | c.2373C>A (p.Gly791=) c.2319C>A (p.Gly773=) c.1716C>A (p.Gly572=) c.2226C>A (p.Gly742=) c.1887C>A (p.Gly629=) c.2235C>A (p.Gly745=) c.2241+102C>A (n.2241+102C>A) c.2205+102C>A (n.2205+102C>A) c.2265C>A (p.Gly755=) c.2133+102C>A (n.2133+102C>A) c.1680-6101C>A (n.1680-6101C>A) c.2361C>A (p.Gly787=) c.2427C>A (p.Gly809=) c.2424C>A (p.Gly808=) c.2397C>A (p.Gly799=) c.2343C>A (p.Gly781=) c.2316C>A (p.Gly772=) c.2301C>A (p.Gly767=) c.1908C>A (p.Gly636=) c.2370C>A (p.Gly790=) c.2307C>A (p.Gly769=) c.2304C>A (p.Gly768=) c.2262C>A (p.Gly754=) c.1335C>A (p.Gly445=) | gnomAD v4 |