Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406735G>A | CA409636680 | KCNQ2 | c.2582C>T (p.Ser861Phe) c.2528C>T (p.Ser843Phe) c.1925C>T (p.Ser642Phe) c.2435C>T (p.Ser812Phe) c.2096C>T (p.Ser699Phe) c.2444C>T (p.Ser815Phe) c.2241+311C>T (n.2241+311C>T) c.2205+311C>T (n.2205+311C>T) c.2474C>T (p.Ser825Phe) c.2133+311C>T (n.2133+311C>T) c.1680-5892C>T (n.1680-5892C>T) c.2570C>T (p.Ser857Phe) c.2636C>T (p.Ser879Phe) c.2633C>T (p.Ser878Phe) c.2606C>T (p.Ser869Phe) c.2552C>T (p.Ser851Phe) c.2525C>T (p.Ser842Phe) c.2510C>T (p.Ser837Phe) c.2117C>T (p.Ser706Phe) c.2579C>T (p.Ser860Phe) c.2516C>T (p.Ser839Phe) c.2513C>T (p.Ser838Phe) c.2471C>T (p.Ser824Phe) c.1544C>T (p.Ser515Phe) | |
20 | g.63406735G>C | CA409636681 | KCNQ2 | c.2582C>G (p.Ser861Cys) c.2528C>G (p.Ser843Cys) c.1925C>G (p.Ser642Cys) c.2435C>G (p.Ser812Cys) c.2096C>G (p.Ser699Cys) c.2444C>G (p.Ser815Cys) c.2241+311C>G (n.2241+311C>G) c.2205+311C>G (n.2205+311C>G) c.2474C>G (p.Ser825Cys) c.2133+311C>G (n.2133+311C>G) c.1680-5892C>G (n.1680-5892C>G) c.2570C>G (p.Ser857Cys) c.2636C>G (p.Ser879Cys) c.2633C>G (p.Ser878Cys) c.2606C>G (p.Ser869Cys) c.2552C>G (p.Ser851Cys) c.2525C>G (p.Ser842Cys) c.2510C>G (p.Ser837Cys) c.2117C>G (p.Ser706Cys) c.2579C>G (p.Ser860Cys) c.2516C>G (p.Ser839Cys) c.2513C>G (p.Ser838Cys) c.2471C>G (p.Ser824Cys) c.1544C>G (p.Ser515Cys) | |
20 | g.63406735G>T | CA409636682 | KCNQ2 | c.2582C>A (p.Ser861Tyr) c.2528C>A (p.Ser843Tyr) c.1925C>A (p.Ser642Tyr) c.2435C>A (p.Ser812Tyr) c.2096C>A (p.Ser699Tyr) c.2444C>A (p.Ser815Tyr) c.2241+311C>A (n.2241+311C>A) c.2205+311C>A (n.2205+311C>A) c.2474C>A (p.Ser825Tyr) c.2133+311C>A (n.2133+311C>A) c.1680-5892C>A (n.1680-5892C>A) c.2570C>A (p.Ser857Tyr) c.2636C>A (p.Ser879Tyr) c.2633C>A (p.Ser878Tyr) c.2606C>A (p.Ser869Tyr) c.2552C>A (p.Ser851Tyr) c.2525C>A (p.Ser842Tyr) c.2510C>A (p.Ser837Tyr) c.2117C>A (p.Ser706Tyr) c.2579C>A (p.Ser860Tyr) c.2516C>A (p.Ser839Tyr) c.2513C>A (p.Ser838Tyr) c.2471C>A (p.Ser824Tyr) c.1544C>A (p.Ser515Tyr) | |
20 | g.63406736A= | CA2374774225 | KCNQ2 | c.2581T= (p.Ser861=) c.2527T= (p.Ser843=) c.1924T= (p.Ser642=) c.2434T= (p.Ser812=) c.2095T= (p.Ser699=) c.2443T= (p.Ser815=) c.2241+310T= (n.2241+310T=) c.2205+310T= (n.2205+310T=) c.2473T= (p.Ser825=) c.2133+310T= (n.2133+310T=) c.1680-5893T= (n.1680-5893T=) c.2569T= (p.Ser857=) c.2635T= (p.Ser879=) c.2632T= (p.Ser878=) c.2605T= (p.Ser869=) c.2551T= (p.Ser851=) c.2524T= (p.Ser842=) c.2509T= (p.Ser837=) c.2116T= (p.Ser706=) c.2578T= (p.Ser860=) c.2515T= (p.Ser839=) c.2512T= (p.Ser838=) c.2470T= (p.Ser824=) c.1543T= (p.Ser515=) | |
20 | g.63406736A>C | CA409636685 | KCNQ2 | c.2581T>G (p.Ser861Ala) c.2527T>G (p.Ser843Ala) c.1924T>G (p.Ser642Ala) c.2434T>G (p.Ser812Ala) c.2095T>G (p.Ser699Ala) c.2443T>G (p.Ser815Ala) c.2241+310T>G (n.2241+310T>G) c.2205+310T>G (n.2205+310T>G) c.2473T>G (p.Ser825Ala) c.2133+310T>G (n.2133+310T>G) c.1680-5893T>G (n.1680-5893T>G) c.2569T>G (p.Ser857Ala) c.2635T>G (p.Ser879Ala) c.2632T>G (p.Ser878Ala) c.2605T>G (p.Ser869Ala) c.2551T>G (p.Ser851Ala) c.2524T>G (p.Ser842Ala) c.2509T>G (p.Ser837Ala) c.2116T>G (p.Ser706Ala) c.2578T>G (p.Ser860Ala) c.2515T>G (p.Ser839Ala) c.2512T>G (p.Ser838Ala) c.2470T>G (p.Ser824Ala) c.1543T>G (p.Ser515Ala) | |
20 | g.63406736A>G | CA409636687 | KCNQ2 | c.2581T>C (p.Ser861Pro) c.2527T>C (p.Ser843Pro) c.1924T>C (p.Ser642Pro) c.2434T>C (p.Ser812Pro) c.2095T>C (p.Ser699Pro) c.2443T>C (p.Ser815Pro) c.2241+310T>C (n.2241+310T>C) c.2205+310T>C (n.2205+310T>C) c.2473T>C (p.Ser825Pro) c.2133+310T>C (n.2133+310T>C) c.1680-5893T>C (n.1680-5893T>C) c.2569T>C (p.Ser857Pro) c.2635T>C (p.Ser879Pro) c.2632T>C (p.Ser878Pro) c.2605T>C (p.Ser869Pro) c.2551T>C (p.Ser851Pro) c.2524T>C (p.Ser842Pro) c.2509T>C (p.Ser837Pro) c.2116T>C (p.Ser706Pro) c.2578T>C (p.Ser860Pro) c.2515T>C (p.Ser839Pro) c.2512T>C (p.Ser838Pro) c.2470T>C (p.Ser824Pro) c.1543T>C (p.Ser515Pro) | dbSNP gnomAD v2 |
20 | g.63406736A>T | CA409636688 | KCNQ2 | c.2581T>A (p.Ser861Thr) c.2527T>A (p.Ser843Thr) c.1924T>A (p.Ser642Thr) c.2434T>A (p.Ser812Thr) c.2095T>A (p.Ser699Thr) c.2443T>A (p.Ser815Thr) c.2241+310T>A (n.2241+310T>A) c.2205+310T>A (n.2205+310T>A) c.2473T>A (p.Ser825Thr) c.2133+310T>A (n.2133+310T>A) c.1680-5893T>A (n.1680-5893T>A) c.2569T>A (p.Ser857Thr) c.2635T>A (p.Ser879Thr) c.2632T>A (p.Ser878Thr) c.2605T>A (p.Ser869Thr) c.2551T>A (p.Ser851Thr) c.2524T>A (p.Ser842Thr) c.2509T>A (p.Ser837Thr) c.2116T>A (p.Ser706Thr) c.2578T>A (p.Ser860Thr) c.2515T>A (p.Ser839Thr) c.2512T>A (p.Ser838Thr) c.2470T>A (p.Ser824Thr) c.1543T>A (p.Ser515Thr) | |
20 | g.63406737G>A | CA511339224 | KCNQ2 | c.2580C>T (p.Asp860=) c.2526C>T (p.Asp842=) c.1923C>T (p.Asp641=) c.2433C>T (p.Asp811=) c.2094C>T (p.Asp698=) c.2442C>T (p.Asp814=) c.2241+309C>T (n.2241+309C>T) c.2205+309C>T (n.2205+309C>T) c.2472C>T (p.Asp824=) c.2133+309C>T (n.2133+309C>T) c.1680-5894C>T (n.1680-5894C>T) c.2568C>T (p.Asp856=) c.2634C>T (p.Asp878=) c.2631C>T (p.Asp877=) c.2604C>T (p.Asp868=) c.2550C>T (p.Asp850=) c.2523C>T (p.Asp841=) c.2508C>T (p.Asp836=) c.2115C>T (p.Asp705=) c.2577C>T (p.Asp859=) c.2514C>T (p.Asp838=) c.2511C>T (p.Asp837=) c.2469C>T (p.Asp823=) c.1542C>T (p.Asp514=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406737G>C | CA409636690 | KCNQ2 | c.2580C>G (p.Asp860Glu) c.2526C>G (p.Asp842Glu) c.1923C>G (p.Asp641Glu) c.2433C>G (p.Asp811Glu) c.2094C>G (p.Asp698Glu) c.2442C>G (p.Asp814Glu) c.2241+309C>G (n.2241+309C>G) c.2205+309C>G (n.2205+309C>G) c.2472C>G (p.Asp824Glu) c.2133+309C>G (n.2133+309C>G) c.1680-5894C>G (n.1680-5894C>G) c.2568C>G (p.Asp856Glu) c.2634C>G (p.Asp878Glu) c.2631C>G (p.Asp877Glu) c.2604C>G (p.Asp868Glu) c.2550C>G (p.Asp850Glu) c.2523C>G (p.Asp841Glu) c.2508C>G (p.Asp836Glu) c.2115C>G (p.Asp705Glu) c.2577C>G (p.Asp859Glu) c.2514C>G (p.Asp838Glu) c.2511C>G (p.Asp837Glu) c.2469C>G (p.Asp823Glu) c.1542C>G (p.Asp514Glu) | |
20 | g.63406737G= | CA2374774226 | KCNQ2 | c.2580C= (p.Asp860=) c.2526C= (p.Asp842=) c.1923C= (p.Asp641=) c.2433C= (p.Asp811=) c.2094C= (p.Asp698=) c.2442C= (p.Asp814=) c.2241+309C= (n.2241+309C=) c.2205+309C= (n.2205+309C=) c.2472C= (p.Asp824=) c.2133+309C= (n.2133+309C=) c.1680-5894C= (n.1680-5894C=) c.2568C= (p.Asp856=) c.2634C= (p.Asp878=) c.2631C= (p.Asp877=) c.2604C= (p.Asp868=) c.2550C= (p.Asp850=) c.2523C= (p.Asp841=) c.2508C= (p.Asp836=) c.2115C= (p.Asp705=) c.2577C= (p.Asp859=) c.2514C= (p.Asp838=) c.2511C= (p.Asp837=) c.2469C= (p.Asp823=) c.1542C= (p.Asp514=) | |
20 | g.63406737G>T | CA409636692 | KCNQ2 | c.2580C>A (p.Asp860Glu) c.2526C>A (p.Asp842Glu) c.1923C>A (p.Asp641Glu) c.2433C>A (p.Asp811Glu) c.2094C>A (p.Asp698Glu) c.2442C>A (p.Asp814Glu) c.2241+309C>A (n.2241+309C>A) c.2205+309C>A (n.2205+309C>A) c.2472C>A (p.Asp824Glu) c.2133+309C>A (n.2133+309C>A) c.1680-5894C>A (n.1680-5894C>A) c.2568C>A (p.Asp856Glu) c.2634C>A (p.Asp878Glu) c.2631C>A (p.Asp877Glu) c.2604C>A (p.Asp868Glu) c.2550C>A (p.Asp850Glu) c.2523C>A (p.Asp841Glu) c.2508C>A (p.Asp836Glu) c.2115C>A (p.Asp705Glu) c.2577C>A (p.Asp859Glu) c.2514C>A (p.Asp838Glu) c.2511C>A (p.Asp837Glu) c.2469C>A (p.Asp823Glu) c.1542C>A (p.Asp514Glu) | |
20 | g.63406738T>A | CA409636698 | KCNQ2 | c.2579A>T (p.Asp860Val) c.2525A>T (p.Asp842Val) c.1922A>T (p.Asp641Val) c.2432A>T (p.Asp811Val) c.2093A>T (p.Asp698Val) c.2441A>T (p.Asp814Val) c.2241+308A>T (n.2241+308A>T) c.2205+308A>T (n.2205+308A>T) c.2471A>T (p.Asp824Val) c.2133+308A>T (n.2133+308A>T) c.1680-5895A>T (n.1680-5895A>T) c.2567A>T (p.Asp856Val) c.2633A>T (p.Asp878Val) c.2630A>T (p.Asp877Val) c.2603A>T (p.Asp868Val) c.2549A>T (p.Asp850Val) c.2522A>T (p.Asp841Val) c.2507A>T (p.Asp836Val) c.2114A>T (p.Asp705Val) c.2576A>T (p.Asp859Val) c.2513A>T (p.Asp838Val) c.2510A>T (p.Asp837Val) c.2468A>T (p.Asp823Val) c.1541A>T (p.Asp514Val) | |
20 | g.63406738T>C | CA409636696 | KCNQ2 | c.2579A>G (p.Asp860Gly) c.2525A>G (p.Asp842Gly) c.1922A>G (p.Asp641Gly) c.2432A>G (p.Asp811Gly) c.2093A>G (p.Asp698Gly) c.2441A>G (p.Asp814Gly) c.2241+308A>G (n.2241+308A>G) c.2205+308A>G (n.2205+308A>G) c.2471A>G (p.Asp824Gly) c.2133+308A>G (n.2133+308A>G) c.1680-5895A>G (n.1680-5895A>G) c.2567A>G (p.Asp856Gly) c.2633A>G (p.Asp878Gly) c.2630A>G (p.Asp877Gly) c.2603A>G (p.Asp868Gly) c.2549A>G (p.Asp850Gly) c.2522A>G (p.Asp841Gly) c.2507A>G (p.Asp836Gly) c.2114A>G (p.Asp705Gly) c.2576A>G (p.Asp859Gly) c.2513A>G (p.Asp838Gly) c.2510A>G (p.Asp837Gly) c.2468A>G (p.Asp823Gly) c.1541A>G (p.Asp514Gly) | |
20 | g.63406738T>G | CA409636695 | KCNQ2 | c.2579A>C (p.Asp860Ala) c.2525A>C (p.Asp842Ala) c.1922A>C (p.Asp641Ala) c.2432A>C (p.Asp811Ala) c.2093A>C (p.Asp698Ala) c.2441A>C (p.Asp814Ala) c.2241+308A>C (n.2241+308A>C) c.2205+308A>C (n.2205+308A>C) c.2471A>C (p.Asp824Ala) c.2133+308A>C (n.2133+308A>C) c.1680-5895A>C (n.1680-5895A>C) c.2567A>C (p.Asp856Ala) c.2633A>C (p.Asp878Ala) c.2630A>C (p.Asp877Ala) c.2603A>C (p.Asp868Ala) c.2549A>C (p.Asp850Ala) c.2522A>C (p.Asp841Ala) c.2507A>C (p.Asp836Ala) c.2114A>C (p.Asp705Ala) c.2576A>C (p.Asp859Ala) c.2513A>C (p.Asp838Ala) c.2510A>C (p.Asp837Ala) c.2468A>C (p.Asp823Ala) c.1541A>C (p.Asp514Ala) | |
20 | g.63406739C>A | CA409636701 | KCNQ2 | c.2578G>T (p.Asp860Tyr) c.2524G>T (p.Asp842Tyr) c.1921G>T (p.Asp641Tyr) c.2431G>T (p.Asp811Tyr) c.2092G>T (p.Asp698Tyr) c.2440G>T (p.Asp814Tyr) c.2241+307G>T (n.2241+307G>T) c.2205+307G>T (n.2205+307G>T) c.2470G>T (p.Asp824Tyr) c.2133+307G>T (n.2133+307G>T) c.1680-5896G>T (n.1680-5896G>T) c.2566G>T (p.Asp856Tyr) c.2632G>T (p.Asp878Tyr) c.2629G>T (p.Asp877Tyr) c.2602G>T (p.Asp868Tyr) c.2548G>T (p.Asp850Tyr) c.2521G>T (p.Asp841Tyr) c.2506G>T (p.Asp836Tyr) c.2113G>T (p.Asp705Tyr) c.2575G>T (p.Asp859Tyr) c.2512G>T (p.Asp838Tyr) c.2509G>T (p.Asp837Tyr) c.2467G>T (p.Asp823Tyr) c.1540G>T (p.Asp514Tyr) | |
20 | g.63406739C>G | CA409636702 | KCNQ2 | c.2578G>C (p.Asp860His) c.2524G>C (p.Asp842His) c.1921G>C (p.Asp641His) c.2431G>C (p.Asp811His) c.2092G>C (p.Asp698His) c.2440G>C (p.Asp814His) c.2241+307G>C (n.2241+307G>C) c.2205+307G>C (n.2205+307G>C) c.2470G>C (p.Asp824His) c.2133+307G>C (n.2133+307G>C) c.1680-5896G>C (n.1680-5896G>C) c.2566G>C (p.Asp856His) c.2632G>C (p.Asp878His) c.2629G>C (p.Asp877His) c.2602G>C (p.Asp868His) c.2548G>C (p.Asp850His) c.2521G>C (p.Asp841His) c.2506G>C (p.Asp836His) c.2113G>C (p.Asp705His) c.2575G>C (p.Asp859His) c.2512G>C (p.Asp838His) c.2509G>C (p.Asp837His) c.2467G>C (p.Asp823His) c.1540G>C (p.Asp514His) | ClinVar |
20 | g.63406739C>T | CA409636705 | KCNQ2 | c.2578G>A (p.Asp860Asn) c.2524G>A (p.Asp842Asn) c.1921G>A (p.Asp641Asn) c.2431G>A (p.Asp811Asn) c.2092G>A (p.Asp698Asn) c.2440G>A (p.Asp814Asn) c.2241+307G>A (n.2241+307G>A) c.2205+307G>A (n.2205+307G>A) c.2470G>A (p.Asp824Asn) c.2133+307G>A (n.2133+307G>A) c.1680-5896G>A (n.1680-5896G>A) c.2566G>A (p.Asp856Asn) c.2632G>A (p.Asp878Asn) c.2629G>A (p.Asp877Asn) c.2602G>A (p.Asp868Asn) c.2548G>A (p.Asp850Asn) c.2521G>A (p.Asp841Asn) c.2506G>A (p.Asp836Asn) c.2113G>A (p.Asp705Asn) c.2575G>A (p.Asp859Asn) c.2512G>A (p.Asp838Asn) c.2509G>A (p.Asp837Asn) c.2467G>A (p.Asp823Asn) c.1540G>A (p.Asp514Asn) | gnomAD v4 |
20 | g.63406740G>A | CA9958065 | KCNQ2 | c.2577C>T (p.Thr859=) c.2523C>T (p.Thr841=) c.1920C>T (p.Thr640=) c.2430C>T (p.Thr810=) c.2091C>T (p.Thr697=) c.2439C>T (p.Thr813=) c.2241+306C>T (n.2241+306C>T) c.2205+306C>T (n.2205+306C>T) c.2469C>T (p.Thr823=) c.2133+306C>T (n.2133+306C>T) c.1680-5897C>T (n.1680-5897C>T) c.2565C>T (p.Thr855=) c.2631C>T (p.Thr877=) c.2628C>T (p.Thr876=) c.2601C>T (p.Thr867=) c.2547C>T (p.Thr849=) c.2520C>T (p.Thr840=) c.2505C>T (p.Thr835=) c.2112C>T (p.Thr704=) c.2574C>T (p.Thr858=) c.2511C>T (p.Thr837=) c.2508C>T (p.Thr836=) c.2466C>T (p.Thr822=) c.1539C>T (p.Thr513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406740G>C | CA511339225 | KCNQ2 | c.2577C>G (p.Thr859=) c.2523C>G (p.Thr841=) c.1920C>G (p.Thr640=) c.2430C>G (p.Thr810=) c.2091C>G (p.Thr697=) c.2439C>G (p.Thr813=) c.2241+306C>G (n.2241+306C>G) c.2205+306C>G (n.2205+306C>G) c.2469C>G (p.Thr823=) c.2133+306C>G (n.2133+306C>G) c.1680-5897C>G (n.1680-5897C>G) c.2565C>G (p.Thr855=) c.2631C>G (p.Thr877=) c.2628C>G (p.Thr876=) c.2601C>G (p.Thr867=) c.2547C>G (p.Thr849=) c.2520C>G (p.Thr840=) c.2505C>G (p.Thr835=) c.2112C>G (p.Thr704=) c.2574C>G (p.Thr858=) c.2511C>G (p.Thr837=) c.2508C>G (p.Thr836=) c.2466C>G (p.Thr822=) c.1539C>G (p.Thr513=) | dbSNP |
20 | g.63406740G= | CA2374774227 | KCNQ2 | c.2577C= (p.Thr859=) c.2523C= (p.Thr841=) c.1920C= (p.Thr640=) c.2430C= (p.Thr810=) c.2091C= (p.Thr697=) c.2439C= (p.Thr813=) c.2241+306C= (n.2241+306C=) c.2205+306C= (n.2205+306C=) c.2469C= (p.Thr823=) c.2133+306C= (n.2133+306C=) c.1680-5897C= (n.1680-5897C=) c.2565C= (p.Thr855=) c.2631C= (p.Thr877=) c.2628C= (p.Thr876=) c.2601C= (p.Thr867=) c.2547C= (p.Thr849=) c.2520C= (p.Thr840=) c.2505C= (p.Thr835=) c.2112C= (p.Thr704=) c.2574C= (p.Thr858=) c.2511C= (p.Thr837=) c.2508C= (p.Thr836=) c.2466C= (p.Thr822=) c.1539C= (p.Thr513=) | |
20 | g.63406740G>T | CA511339226 | KCNQ2 | c.2577C>A (p.Thr859=) c.2523C>A (p.Thr841=) c.1920C>A (p.Thr640=) c.2430C>A (p.Thr810=) c.2091C>A (p.Thr697=) c.2439C>A (p.Thr813=) c.2241+306C>A (n.2241+306C>A) c.2205+306C>A (n.2205+306C>A) c.2469C>A (p.Thr823=) c.2133+306C>A (n.2133+306C>A) c.1680-5897C>A (n.1680-5897C>A) c.2565C>A (p.Thr855=) c.2631C>A (p.Thr877=) c.2628C>A (p.Thr876=) c.2601C>A (p.Thr867=) c.2547C>A (p.Thr849=) c.2520C>A (p.Thr840=) c.2505C>A (p.Thr835=) c.2112C>A (p.Thr704=) c.2574C>A (p.Thr858=) c.2511C>A (p.Thr837=) c.2508C>A (p.Thr836=) c.2466C>A (p.Thr822=) c.1539C>A (p.Thr513=) | |
20 | g.63406741G>A | CA409636709 | KCNQ2 | c.2576C>T (p.Thr859Ile) c.2522C>T (p.Thr841Ile) c.1919C>T (p.Thr640Ile) c.2429C>T (p.Thr810Ile) c.2090C>T (p.Thr697Ile) c.2438C>T (p.Thr813Ile) c.2241+305C>T (n.2241+305C>T) c.2205+305C>T (n.2205+305C>T) c.2468C>T (p.Thr823Ile) c.2133+305C>T (n.2133+305C>T) c.1680-5898C>T (n.1680-5898C>T) c.2564C>T (p.Thr855Ile) c.2630C>T (p.Thr877Ile) c.2627C>T (p.Thr876Ile) c.2600C>T (p.Thr867Ile) c.2546C>T (p.Thr849Ile) c.2519C>T (p.Thr840Ile) c.2504C>T (p.Thr835Ile) c.2111C>T (p.Thr704Ile) c.2573C>T (p.Thr858Ile) c.2510C>T (p.Thr837Ile) c.2507C>T (p.Thr836Ile) c.2465C>T (p.Thr822Ile) c.1538C>T (p.Thr513Ile) | |
20 | g.63406741G>C | CA409636710 | KCNQ2 | c.2576C>G (p.Thr859Ser) c.2522C>G (p.Thr841Ser) c.1919C>G (p.Thr640Ser) c.2429C>G (p.Thr810Ser) c.2090C>G (p.Thr697Ser) c.2438C>G (p.Thr813Ser) c.2241+305C>G (n.2241+305C>G) c.2205+305C>G (n.2205+305C>G) c.2468C>G (p.Thr823Ser) c.2133+305C>G (n.2133+305C>G) c.1680-5898C>G (n.1680-5898C>G) c.2564C>G (p.Thr855Ser) c.2630C>G (p.Thr877Ser) c.2627C>G (p.Thr876Ser) c.2600C>G (p.Thr867Ser) c.2546C>G (p.Thr849Ser) c.2519C>G (p.Thr840Ser) c.2504C>G (p.Thr835Ser) c.2111C>G (p.Thr704Ser) c.2573C>G (p.Thr858Ser) c.2510C>G (p.Thr837Ser) c.2507C>G (p.Thr836Ser) c.2465C>G (p.Thr822Ser) c.1538C>G (p.Thr513Ser) | |
20 | g.63406741G>T | CA409636711 | KCNQ2 | c.2576C>A (p.Thr859Asn) c.2522C>A (p.Thr841Asn) c.1919C>A (p.Thr640Asn) c.2429C>A (p.Thr810Asn) c.2090C>A (p.Thr697Asn) c.2438C>A (p.Thr813Asn) c.2241+305C>A (n.2241+305C>A) c.2205+305C>A (n.2205+305C>A) c.2468C>A (p.Thr823Asn) c.2133+305C>A (n.2133+305C>A) c.1680-5898C>A (n.1680-5898C>A) c.2564C>A (p.Thr855Asn) c.2630C>A (p.Thr877Asn) c.2627C>A (p.Thr876Asn) c.2600C>A (p.Thr867Asn) c.2546C>A (p.Thr849Asn) c.2519C>A (p.Thr840Asn) c.2504C>A (p.Thr835Asn) c.2111C>A (p.Thr704Asn) c.2573C>A (p.Thr858Asn) c.2510C>A (p.Thr837Asn) c.2507C>A (p.Thr836Asn) c.2465C>A (p.Thr822Asn) c.1538C>A (p.Thr513Asn) | gnomAD v4 |
20 | g.63406742T>A | CA409636714 | KCNQ2 | c.2575A>T (p.Thr859Ser) c.2521A>T (p.Thr841Ser) c.1918A>T (p.Thr640Ser) c.2428A>T (p.Thr810Ser) c.2089A>T (p.Thr697Ser) c.2437A>T (p.Thr813Ser) c.2241+304A>T (n.2241+304A>T) c.2205+304A>T (n.2205+304A>T) c.2467A>T (p.Thr823Ser) c.2133+304A>T (n.2133+304A>T) c.1680-5899A>T (n.1680-5899A>T) c.2563A>T (p.Thr855Ser) c.2629A>T (p.Thr877Ser) c.2626A>T (p.Thr876Ser) c.2599A>T (p.Thr867Ser) c.2545A>T (p.Thr849Ser) c.2518A>T (p.Thr840Ser) c.2503A>T (p.Thr835Ser) c.2110A>T (p.Thr704Ser) c.2572A>T (p.Thr858Ser) c.2509A>T (p.Thr837Ser) c.2506A>T (p.Thr836Ser) c.2464A>T (p.Thr822Ser) c.1537A>T (p.Thr513Ser) | |
20 | g.63406742T>C | CA409636716 | KCNQ2 | c.2575A>G (p.Thr859Ala) c.2521A>G (p.Thr841Ala) c.1918A>G (p.Thr640Ala) c.2428A>G (p.Thr810Ala) c.2089A>G (p.Thr697Ala) c.2437A>G (p.Thr813Ala) c.2241+304A>G (n.2241+304A>G) c.2205+304A>G (n.2205+304A>G) c.2467A>G (p.Thr823Ala) c.2133+304A>G (n.2133+304A>G) c.1680-5899A>G (n.1680-5899A>G) c.2563A>G (p.Thr855Ala) c.2629A>G (p.Thr877Ala) c.2626A>G (p.Thr876Ala) c.2599A>G (p.Thr867Ala) c.2545A>G (p.Thr849Ala) c.2518A>G (p.Thr840Ala) c.2503A>G (p.Thr835Ala) c.2110A>G (p.Thr704Ala) c.2572A>G (p.Thr858Ala) c.2509A>G (p.Thr837Ala) c.2506A>G (p.Thr836Ala) c.2464A>G (p.Thr822Ala) c.1537A>G (p.Thr513Ala) | |
20 | g.63406742T>G | CA409636718 | KCNQ2 | c.2575A>C (p.Thr859Pro) c.2521A>C (p.Thr841Pro) c.1918A>C (p.Thr640Pro) c.2428A>C (p.Thr810Pro) c.2089A>C (p.Thr697Pro) c.2437A>C (p.Thr813Pro) c.2241+304A>C (n.2241+304A>C) c.2205+304A>C (n.2205+304A>C) c.2467A>C (p.Thr823Pro) c.2133+304A>C (n.2133+304A>C) c.1680-5899A>C (n.1680-5899A>C) c.2563A>C (p.Thr855Pro) c.2629A>C (p.Thr877Pro) c.2626A>C (p.Thr876Pro) c.2599A>C (p.Thr867Pro) c.2545A>C (p.Thr849Pro) c.2518A>C (p.Thr840Pro) c.2503A>C (p.Thr835Pro) c.2110A>C (p.Thr704Pro) c.2572A>C (p.Thr858Pro) c.2509A>C (p.Thr837Pro) c.2506A>C (p.Thr836Pro) c.2464A>C (p.Thr822Pro) c.1537A>C (p.Thr513Pro) | |
20 | g.63406743G>A | CA511339227 | KCNQ2 | c.2574C>T (p.Asp858=) c.2520C>T (p.Asp840=) c.1917C>T (p.Asp639=) c.2427C>T (p.Asp809=) c.2088C>T (p.Asp696=) c.2436C>T (p.Asp812=) c.2241+303C>T (n.2241+303C>T) c.2205+303C>T (n.2205+303C>T) c.2466C>T (p.Asp822=) c.2133+303C>T (n.2133+303C>T) c.1680-5900C>T (n.1680-5900C>T) c.2562C>T (p.Asp854=) c.2628C>T (p.Asp876=) c.2625C>T (p.Asp875=) c.2598C>T (p.Asp866=) c.2544C>T (p.Asp848=) c.2517C>T (p.Asp839=) c.2502C>T (p.Asp834=) c.2109C>T (p.Asp703=) c.2571C>T (p.Asp857=) c.2508C>T (p.Asp836=) c.2505C>T (p.Asp835=) c.2463C>T (p.Asp821=) c.1536C>T (p.Asp512=) | dbSNP |
20 | g.63406743G>C | CA409636720 | KCNQ2 | c.2574C>G (p.Asp858Glu) c.2520C>G (p.Asp840Glu) c.1917C>G (p.Asp639Glu) c.2427C>G (p.Asp809Glu) c.2088C>G (p.Asp696Glu) c.2436C>G (p.Asp812Glu) c.2241+303C>G (n.2241+303C>G) c.2205+303C>G (n.2205+303C>G) c.2466C>G (p.Asp822Glu) c.2133+303C>G (n.2133+303C>G) c.1680-5900C>G (n.1680-5900C>G) c.2562C>G (p.Asp854Glu) c.2628C>G (p.Asp876Glu) c.2625C>G (p.Asp875Glu) c.2598C>G (p.Asp866Glu) c.2544C>G (p.Asp848Glu) c.2517C>G (p.Asp839Glu) c.2502C>G (p.Asp834Glu) c.2109C>G (p.Asp703Glu) c.2571C>G (p.Asp857Glu) c.2508C>G (p.Asp836Glu) c.2505C>G (p.Asp835Glu) c.2463C>G (p.Asp821Glu) c.1536C>G (p.Asp512Glu) | |
20 | g.63406743G= | CA2374774228 | KCNQ2 | c.2574C= (p.Asp858=) c.2520C= (p.Asp840=) c.1917C= (p.Asp639=) c.2427C= (p.Asp809=) c.2088C= (p.Asp696=) c.2436C= (p.Asp812=) c.2241+303C= (n.2241+303C=) c.2205+303C= (n.2205+303C=) c.2466C= (p.Asp822=) c.2133+303C= (n.2133+303C=) c.1680-5900C= (n.1680-5900C=) c.2562C= (p.Asp854=) c.2628C= (p.Asp876=) c.2625C= (p.Asp875=) c.2598C= (p.Asp866=) c.2544C= (p.Asp848=) c.2517C= (p.Asp839=) c.2502C= (p.Asp834=) c.2109C= (p.Asp703=) c.2571C= (p.Asp857=) c.2508C= (p.Asp836=) c.2505C= (p.Asp835=) c.2463C= (p.Asp821=) c.1536C= (p.Asp512=) | |
20 | g.63406743G>T | CA409636722 | KCNQ2 | c.2574C>A (p.Asp858Glu) c.2520C>A (p.Asp840Glu) c.1917C>A (p.Asp639Glu) c.2427C>A (p.Asp809Glu) c.2088C>A (p.Asp696Glu) c.2436C>A (p.Asp812Glu) c.2241+303C>A (n.2241+303C>A) c.2205+303C>A (n.2205+303C>A) c.2466C>A (p.Asp822Glu) c.2133+303C>A (n.2133+303C>A) c.1680-5900C>A (n.1680-5900C>A) c.2562C>A (p.Asp854Glu) c.2628C>A (p.Asp876Glu) c.2625C>A (p.Asp875Glu) c.2598C>A (p.Asp866Glu) c.2544C>A (p.Asp848Glu) c.2517C>A (p.Asp839Glu) c.2502C>A (p.Asp834Glu) c.2109C>A (p.Asp703Glu) c.2571C>A (p.Asp857Glu) c.2508C>A (p.Asp836Glu) c.2505C>A (p.Asp835Glu) c.2463C>A (p.Asp821Glu) c.1536C>A (p.Asp512Glu) | |
20 | g.63406744T>A | CA409636726 | KCNQ2 | c.2573A>T (p.Asp858Val) c.2519A>T (p.Asp840Val) c.1916A>T (p.Asp639Val) c.2426A>T (p.Asp809Val) c.2087A>T (p.Asp696Val) c.2435A>T (p.Asp812Val) c.2241+302A>T (n.2241+302A>T) c.2205+302A>T (n.2205+302A>T) c.2465A>T (p.Asp822Val) c.2133+302A>T (n.2133+302A>T) c.1680-5901A>T (n.1680-5901A>T) c.2561A>T (p.Asp854Val) c.2627A>T (p.Asp876Val) c.2624A>T (p.Asp875Val) c.2597A>T (p.Asp866Val) c.2543A>T (p.Asp848Val) c.2516A>T (p.Asp839Val) c.2501A>T (p.Asp834Val) c.2108A>T (p.Asp703Val) c.2570A>T (p.Asp857Val) c.2507A>T (p.Asp836Val) c.2504A>T (p.Asp835Val) c.2462A>T (p.Asp821Val) c.1535A>T (p.Asp512Val) | |
20 | g.63406744T>C | CA409636728 | KCNQ2 | c.2573A>G (p.Asp858Gly) c.2519A>G (p.Asp840Gly) c.1916A>G (p.Asp639Gly) c.2426A>G (p.Asp809Gly) c.2087A>G (p.Asp696Gly) c.2435A>G (p.Asp812Gly) c.2241+302A>G (n.2241+302A>G) c.2205+302A>G (n.2205+302A>G) c.2465A>G (p.Asp822Gly) c.2133+302A>G (n.2133+302A>G) c.1680-5901A>G (n.1680-5901A>G) c.2561A>G (p.Asp854Gly) c.2627A>G (p.Asp876Gly) c.2624A>G (p.Asp875Gly) c.2597A>G (p.Asp866Gly) c.2543A>G (p.Asp848Gly) c.2516A>G (p.Asp839Gly) c.2501A>G (p.Asp834Gly) c.2108A>G (p.Asp703Gly) c.2570A>G (p.Asp857Gly) c.2507A>G (p.Asp836Gly) c.2504A>G (p.Asp835Gly) c.2462A>G (p.Asp821Gly) c.1535A>G (p.Asp512Gly) | |
20 | g.63406744T>G | CA409636724 | KCNQ2 | c.2573A>C (p.Asp858Ala) c.2519A>C (p.Asp840Ala) c.1916A>C (p.Asp639Ala) c.2426A>C (p.Asp809Ala) c.2087A>C (p.Asp696Ala) c.2435A>C (p.Asp812Ala) c.2241+302A>C (n.2241+302A>C) c.2205+302A>C (n.2205+302A>C) c.2465A>C (p.Asp822Ala) c.2133+302A>C (n.2133+302A>C) c.1680-5901A>C (n.1680-5901A>C) c.2561A>C (p.Asp854Ala) c.2627A>C (p.Asp876Ala) c.2624A>C (p.Asp875Ala) c.2597A>C (p.Asp866Ala) c.2543A>C (p.Asp848Ala) c.2516A>C (p.Asp839Ala) c.2501A>C (p.Asp834Ala) c.2108A>C (p.Asp703Ala) c.2570A>C (p.Asp857Ala) c.2507A>C (p.Asp836Ala) c.2504A>C (p.Asp835Ala) c.2462A>C (p.Asp821Ala) c.1535A>C (p.Asp512Ala) | |
20 | g.63406745C>A | CA409636730 | KCNQ2 | c.2572G>T (p.Asp858Tyr) c.2518G>T (p.Asp840Tyr) c.1915G>T (p.Asp639Tyr) c.2425G>T (p.Asp809Tyr) c.2086G>T (p.Asp696Tyr) c.2434G>T (p.Asp812Tyr) c.2241+301G>T (n.2241+301G>T) c.2205+301G>T (n.2205+301G>T) c.2464G>T (p.Asp822Tyr) c.2133+301G>T (n.2133+301G>T) c.1680-5902G>T (n.1680-5902G>T) c.2560G>T (p.Asp854Tyr) c.2626G>T (p.Asp876Tyr) c.2623G>T (p.Asp875Tyr) c.2596G>T (p.Asp866Tyr) c.2542G>T (p.Asp848Tyr) c.2515G>T (p.Asp839Tyr) c.2500G>T (p.Asp834Tyr) c.2107G>T (p.Asp703Tyr) c.2569G>T (p.Asp857Tyr) c.2506G>T (p.Asp836Tyr) c.2503G>T (p.Asp835Tyr) c.2461G>T (p.Asp821Tyr) c.1534G>T (p.Asp512Tyr) | |
20 | g.63406745C>G | CA409636732 | KCNQ2 | c.2572G>C (p.Asp858His) c.2518G>C (p.Asp840His) c.1915G>C (p.Asp639His) c.2425G>C (p.Asp809His) c.2086G>C (p.Asp696His) c.2434G>C (p.Asp812His) c.2241+301G>C (n.2241+301G>C) c.2205+301G>C (n.2205+301G>C) c.2464G>C (p.Asp822His) c.2133+301G>C (n.2133+301G>C) c.1680-5902G>C (n.1680-5902G>C) c.2560G>C (p.Asp854His) c.2626G>C (p.Asp876His) c.2623G>C (p.Asp875His) c.2596G>C (p.Asp866His) c.2542G>C (p.Asp848His) c.2515G>C (p.Asp839His) c.2500G>C (p.Asp834His) c.2107G>C (p.Asp703His) c.2569G>C (p.Asp857His) c.2506G>C (p.Asp836His) c.2503G>C (p.Asp835His) c.2461G>C (p.Asp821His) c.1534G>C (p.Asp512His) | |
20 | g.63406745C>T | CA409636733 | KCNQ2 | c.2572G>A (p.Asp858Asn) c.2518G>A (p.Asp840Asn) c.1915G>A (p.Asp639Asn) c.2425G>A (p.Asp809Asn) c.2086G>A (p.Asp696Asn) c.2434G>A (p.Asp812Asn) c.2241+301G>A (n.2241+301G>A) c.2205+301G>A (n.2205+301G>A) c.2464G>A (p.Asp822Asn) c.2133+301G>A (n.2133+301G>A) c.1680-5902G>A (n.1680-5902G>A) c.2560G>A (p.Asp854Asn) c.2626G>A (p.Asp876Asn) c.2623G>A (p.Asp875Asn) c.2596G>A (p.Asp866Asn) c.2542G>A (p.Asp848Asn) c.2515G>A (p.Asp839Asn) c.2500G>A (p.Asp834Asn) c.2107G>A (p.Asp703Asn) c.2569G>A (p.Asp857Asn) c.2506G>A (p.Asp836Asn) c.2503G>A (p.Asp835Asn) c.2461G>A (p.Asp821Asn) c.1534G>A (p.Asp512Asn) | |
20 | g.63406746T>A | CA511339228 | KCNQ2 | c.2571A>T (p.Ser857=) c.2517A>T (p.Ser839=) c.1914A>T (p.Ser638=) c.2424A>T (p.Ser808=) c.2085A>T (p.Ser695=) c.2433A>T (p.Ser811=) c.2241+300A>T (n.2241+300A>T) c.2205+300A>T (n.2205+300A>T) c.2463A>T (p.Ser821=) c.2133+300A>T (n.2133+300A>T) c.1680-5903A>T (n.1680-5903A>T) c.2559A>T (p.Ser853=) c.2625A>T (p.Ser875=) c.2622A>T (p.Ser874=) c.2595A>T (p.Ser865=) c.2541A>T (p.Ser847=) c.2514A>T (p.Ser838=) c.2499A>T (p.Ser833=) c.2106A>T (p.Ser702=) c.2568A>T (p.Ser856=) c.2505A>T (p.Ser835=) c.2502A>T (p.Ser834=) c.2460A>T (p.Ser820=) c.1533A>T (p.Ser511=) | |
20 | g.63406746T>C | CA511339229 | KCNQ2 | c.2571A>G (p.Ser857=) c.2517A>G (p.Ser839=) c.1914A>G (p.Ser638=) c.2424A>G (p.Ser808=) c.2085A>G (p.Ser695=) c.2433A>G (p.Ser811=) c.2241+300A>G (n.2241+300A>G) c.2205+300A>G (n.2205+300A>G) c.2463A>G (p.Ser821=) c.2133+300A>G (n.2133+300A>G) c.1680-5903A>G (n.1680-5903A>G) c.2559A>G (p.Ser853=) c.2625A>G (p.Ser875=) c.2622A>G (p.Ser874=) c.2595A>G (p.Ser865=) c.2541A>G (p.Ser847=) c.2514A>G (p.Ser838=) c.2499A>G (p.Ser833=) c.2106A>G (p.Ser702=) c.2568A>G (p.Ser856=) c.2505A>G (p.Ser835=) c.2502A>G (p.Ser834=) c.2460A>G (p.Ser820=) c.1533A>G (p.Ser511=) | |
20 | g.63406746T>G | CA511339230 | KCNQ2 | c.2571A>C (p.Ser857=) c.2517A>C (p.Ser839=) c.1914A>C (p.Ser638=) c.2424A>C (p.Ser808=) c.2085A>C (p.Ser695=) c.2433A>C (p.Ser811=) c.2241+300A>C (n.2241+300A>C) c.2205+300A>C (n.2205+300A>C) c.2463A>C (p.Ser821=) c.2133+300A>C (n.2133+300A>C) c.1680-5903A>C (n.1680-5903A>C) c.2559A>C (p.Ser853=) c.2625A>C (p.Ser875=) c.2622A>C (p.Ser874=) c.2595A>C (p.Ser865=) c.2541A>C (p.Ser847=) c.2514A>C (p.Ser838=) c.2499A>C (p.Ser833=) c.2106A>C (p.Ser702=) c.2568A>C (p.Ser856=) c.2505A>C (p.Ser835=) c.2502A>C (p.Ser834=) c.2460A>C (p.Ser820=) c.1533A>C (p.Ser511=) | |
20 | g.63406747G>A | CA409636735 | KCNQ2 | c.2570C>T (p.Ser857Leu) c.2516C>T (p.Ser839Leu) c.1913C>T (p.Ser638Leu) c.2423C>T (p.Ser808Leu) c.2084C>T (p.Ser695Leu) c.2432C>T (p.Ser811Leu) c.2241+299C>T (n.2241+299C>T) c.2205+299C>T (n.2205+299C>T) c.2462C>T (p.Ser821Leu) c.2133+299C>T (n.2133+299C>T) c.1680-5904C>T (n.1680-5904C>T) c.2558C>T (p.Ser853Leu) c.2624C>T (p.Ser875Leu) c.2621C>T (p.Ser874Leu) c.2594C>T (p.Ser865Leu) c.2540C>T (p.Ser847Leu) c.2513C>T (p.Ser838Leu) c.2498C>T (p.Ser833Leu) c.2105C>T (p.Ser702Leu) c.2567C>T (p.Ser856Leu) c.2504C>T (p.Ser835Leu) c.2501C>T (p.Ser834Leu) c.2459C>T (p.Ser820Leu) c.1532C>T (p.Ser511Leu) | COSMIC COSMIC COSMIC |
20 | g.63406747G>C | CA409636737 | KCNQ2 | c.2570C>G (p.Ser857Ter) c.2516C>G (p.Ser839Ter) c.1913C>G (p.Ser638Ter) c.2423C>G (p.Ser808Ter) c.2084C>G (p.Ser695Ter) c.2432C>G (p.Ser811Ter) c.2241+299C>G (n.2241+299C>G) c.2205+299C>G (n.2205+299C>G) c.2462C>G (p.Ser821Ter) c.2133+299C>G (n.2133+299C>G) c.1680-5904C>G (n.1680-5904C>G) c.2558C>G (p.Ser853Ter) c.2624C>G (p.Ser875Ter) c.2621C>G (p.Ser874Ter) c.2594C>G (p.Ser865Ter) c.2540C>G (p.Ser847Ter) c.2513C>G (p.Ser838Ter) c.2498C>G (p.Ser833Ter) c.2105C>G (p.Ser702Ter) c.2567C>G (p.Ser856Ter) c.2504C>G (p.Ser835Ter) c.2501C>G (p.Ser834Ter) c.2459C>G (p.Ser820Ter) c.1532C>G (p.Ser511Ter) | |
20 | g.63406747G= | CA2374774229 | KCNQ2 | c.2570C= (p.Ser857=) c.2516C= (p.Ser839=) c.1913C= (p.Ser638=) c.2423C= (p.Ser808=) c.2084C= (p.Ser695=) c.2432C= (p.Ser811=) c.2241+299C= (n.2241+299C=) c.2205+299C= (n.2205+299C=) c.2462C= (p.Ser821=) c.2133+299C= (n.2133+299C=) c.1680-5904C= (n.1680-5904C=) c.2558C= (p.Ser853=) c.2624C= (p.Ser875=) c.2621C= (p.Ser874=) c.2594C= (p.Ser865=) c.2540C= (p.Ser847=) c.2513C= (p.Ser838=) c.2498C= (p.Ser833=) c.2105C= (p.Ser702=) c.2567C= (p.Ser856=) c.2504C= (p.Ser835=) c.2501C= (p.Ser834=) c.2459C= (p.Ser820=) c.1532C= (p.Ser511=) | |
20 | g.63406747G>T | CA409636739 | KCNQ2 | c.2570C>A (p.Ser857Ter) c.2516C>A (p.Ser839Ter) c.1913C>A (p.Ser638Ter) c.2423C>A (p.Ser808Ter) c.2084C>A (p.Ser695Ter) c.2432C>A (p.Ser811Ter) c.2241+299C>A (n.2241+299C>A) c.2205+299C>A (n.2205+299C>A) c.2462C>A (p.Ser821Ter) c.2133+299C>A (n.2133+299C>A) c.1680-5904C>A (n.1680-5904C>A) c.2558C>A (p.Ser853Ter) c.2624C>A (p.Ser875Ter) c.2621C>A (p.Ser874Ter) c.2594C>A (p.Ser865Ter) c.2540C>A (p.Ser847Ter) c.2513C>A (p.Ser838Ter) c.2498C>A (p.Ser833Ter) c.2105C>A (p.Ser702Ter) c.2567C>A (p.Ser856Ter) c.2504C>A (p.Ser835Ter) c.2501C>A (p.Ser834Ter) c.2459C>A (p.Ser820Ter) c.1532C>A (p.Ser511Ter) | ClinVar dbSNP |
20 | g.63406748A>C | CA409636740 | KCNQ2 | c.2569T>G (p.Ser857Ala) c.2515T>G (p.Ser839Ala) c.1912T>G (p.Ser638Ala) c.2422T>G (p.Ser808Ala) c.2083T>G (p.Ser695Ala) c.2431T>G (p.Ser811Ala) c.2241+298T>G (n.2241+298T>G) c.2205+298T>G (n.2205+298T>G) c.2461T>G (p.Ser821Ala) c.2133+298T>G (n.2133+298T>G) c.1680-5905T>G (n.1680-5905T>G) c.2557T>G (p.Ser853Ala) c.2623T>G (p.Ser875Ala) c.2620T>G (p.Ser874Ala) c.2593T>G (p.Ser865Ala) c.2539T>G (p.Ser847Ala) c.2512T>G (p.Ser838Ala) c.2497T>G (p.Ser833Ala) c.2104T>G (p.Ser702Ala) c.2566T>G (p.Ser856Ala) c.2503T>G (p.Ser835Ala) c.2500T>G (p.Ser834Ala) c.2458T>G (p.Ser820Ala) c.1531T>G (p.Ser511Ala) | |
20 | g.63406748A>G | CA409636744 | KCNQ2 | c.2569T>C (p.Ser857Pro) c.2515T>C (p.Ser839Pro) c.1912T>C (p.Ser638Pro) c.2422T>C (p.Ser808Pro) c.2083T>C (p.Ser695Pro) c.2431T>C (p.Ser811Pro) c.2241+298T>C (n.2241+298T>C) c.2205+298T>C (n.2205+298T>C) c.2461T>C (p.Ser821Pro) c.2133+298T>C (n.2133+298T>C) c.1680-5905T>C (n.1680-5905T>C) c.2557T>C (p.Ser853Pro) c.2623T>C (p.Ser875Pro) c.2620T>C (p.Ser874Pro) c.2593T>C (p.Ser865Pro) c.2539T>C (p.Ser847Pro) c.2512T>C (p.Ser838Pro) c.2497T>C (p.Ser833Pro) c.2104T>C (p.Ser702Pro) c.2566T>C (p.Ser856Pro) c.2503T>C (p.Ser835Pro) c.2500T>C (p.Ser834Pro) c.2458T>C (p.Ser820Pro) c.1531T>C (p.Ser511Pro) | COSMIC COSMIC COSMIC |
20 | g.63406748A>T | CA409636742 | KCNQ2 | c.2569T>A (p.Ser857Thr) c.2515T>A (p.Ser839Thr) c.1912T>A (p.Ser638Thr) c.2422T>A (p.Ser808Thr) c.2083T>A (p.Ser695Thr) c.2431T>A (p.Ser811Thr) c.2241+298T>A (n.2241+298T>A) c.2205+298T>A (n.2205+298T>A) c.2461T>A (p.Ser821Thr) c.2133+298T>A (n.2133+298T>A) c.1680-5905T>A (n.1680-5905T>A) c.2557T>A (p.Ser853Thr) c.2623T>A (p.Ser875Thr) c.2620T>A (p.Ser874Thr) c.2593T>A (p.Ser865Thr) c.2539T>A (p.Ser847Thr) c.2512T>A (p.Ser838Thr) c.2497T>A (p.Ser833Thr) c.2104T>A (p.Ser702Thr) c.2566T>A (p.Ser856Thr) c.2503T>A (p.Ser835Thr) c.2500T>A (p.Ser834Thr) c.2458T>A (p.Ser820Thr) c.1531T>A (p.Ser511Thr) | gnomAD v4 |
20 | g.63406749C>A | CA409636745 | KCNQ2 | c.2568G>T (p.Glu856Asp) c.2514G>T (p.Glu838Asp) c.1911G>T (p.Glu637Asp) c.2421G>T (p.Glu807Asp) c.2082G>T (p.Glu694Asp) c.2430G>T (p.Glu810Asp) c.2241+297G>T (n.2241+297G>T) c.2205+297G>T (n.2205+297G>T) c.2460G>T (p.Glu820Asp) c.2133+297G>T (n.2133+297G>T) c.1680-5906G>T (n.1680-5906G>T) c.2556G>T (p.Glu852Asp) c.2622G>T (p.Glu874Asp) c.2619G>T (p.Glu873Asp) c.2592G>T (p.Glu864Asp) c.2538G>T (p.Glu846Asp) c.2511G>T (p.Glu837Asp) c.2496G>T (p.Glu832Asp) c.2103G>T (p.Glu701Asp) c.2565G>T (p.Glu855Asp) c.2502G>T (p.Glu834Asp) c.2499G>T (p.Glu833Asp) c.2457G>T (p.Glu819Asp) c.1530G>T (p.Glu510Asp) | |
20 | g.63406749C>G | CA409636747 | KCNQ2 | c.2568G>C (p.Glu856Asp) c.2514G>C (p.Glu838Asp) c.1911G>C (p.Glu637Asp) c.2421G>C (p.Glu807Asp) c.2082G>C (p.Glu694Asp) c.2430G>C (p.Glu810Asp) c.2241+297G>C (n.2241+297G>C) c.2205+297G>C (n.2205+297G>C) c.2460G>C (p.Glu820Asp) c.2133+297G>C (n.2133+297G>C) c.1680-5906G>C (n.1680-5906G>C) c.2556G>C (p.Glu852Asp) c.2622G>C (p.Glu874Asp) c.2619G>C (p.Glu873Asp) c.2592G>C (p.Glu864Asp) c.2538G>C (p.Glu846Asp) c.2511G>C (p.Glu837Asp) c.2496G>C (p.Glu832Asp) c.2103G>C (p.Glu701Asp) c.2565G>C (p.Glu855Asp) c.2502G>C (p.Glu834Asp) c.2499G>C (p.Glu833Asp) c.2457G>C (p.Glu819Asp) c.1530G>C (p.Glu510Asp) | |
20 | g.63406749C>T | CA511339231 | KCNQ2 | c.2568G>A (p.Glu856=) c.2514G>A (p.Glu838=) c.1911G>A (p.Glu637=) c.2421G>A (p.Glu807=) c.2082G>A (p.Glu694=) c.2430G>A (p.Glu810=) c.2241+297G>A (n.2241+297G>A) c.2205+297G>A (n.2205+297G>A) c.2460G>A (p.Glu820=) c.2133+297G>A (n.2133+297G>A) c.1680-5906G>A (n.1680-5906G>A) c.2556G>A (p.Glu852=) c.2622G>A (p.Glu874=) c.2619G>A (p.Glu873=) c.2592G>A (p.Glu864=) c.2538G>A (p.Glu846=) c.2511G>A (p.Glu837=) c.2496G>A (p.Glu832=) c.2103G>A (p.Glu701=) c.2565G>A (p.Glu855=) c.2502G>A (p.Glu834=) c.2499G>A (p.Glu833=) c.2457G>A (p.Glu819=) c.1530G>A (p.Glu510=) | |
20 | g.63406749dup | CA2697547446 | KCNQ2 | c.2568dup (p.Ser857ValfsTer26) c.2514dup (p.Ser839ValfsTer26) c.1911dup (p.Ser638ValfsTer26) c.2421dup (p.Ser808ValfsTer26) c.2082dup (p.Ser695ValfsTer26) c.2430dup (p.Ser811ValfsTer26) c.2241+297dup (n.2241+297dup) c.2205+297dup (n.2205+297dup) c.2460dup (p.Ser821ValfsTer26) c.2133+297dup (n.2133+297dup) c.1680-5906dup (n.1680-5906dup) c.2556dup (p.Ser853ValfsTer26) c.2622dup (p.Ser875ValfsTer26) c.2619dup (p.Ser874ValfsTer26) c.2592dup (p.Ser865ValfsTer26) c.2538dup (p.Ser847ValfsTer26) c.2511dup (p.Ser838ValfsTer26) c.2496dup (p.Ser833ValfsTer26) c.2103dup (p.Ser702ValfsTer26) c.2565dup (p.Ser856ValfsTer26) c.2502dup (p.Ser835ValfsTer26) c.2499dup (p.Ser834ValfsTer26) c.2457dup (p.Ser820ValfsTer26) c.1530dup (p.Ser511ValfsTer26) | ClinVar |
20 | g.63406752_63406753del | CA2695230033 | KCNQ2 | c.2567_2568del (p.Glu856ValfsTer26) c.2513_2514del (p.Glu838ValfsTer26) c.1910_1911del (p.Glu637ValfsTer26) c.2420_2421del (p.Glu807ValfsTer26) c.2081_2082del (p.Glu694ValfsTer26) c.2429_2430del (p.Glu810ValfsTer26) c.2241+296_2241+297del (n.2241+296_2241+297del) c.2205+296_2205+297del (n.2205+296_2205+297del) c.2459_2460del (p.Glu820ValfsTer26) c.2133+296_2133+297del (n.2133+296_2133+297del) c.1680-5907_1680-5906del (n.1680-5907_1680-5906del) c.2555_2556del (p.Glu852ValfsTer26) c.2621_2622del (p.Glu874ValfsTer26) c.2618_2619del (p.Glu873ValfsTer26) c.2591_2592del (p.Glu864ValfsTer26) c.2537_2538del (p.Glu846ValfsTer26) c.2510_2511del (p.Glu837ValfsTer26) c.2495_2496del (p.Glu832ValfsTer26) c.2102_2103del (p.Glu701ValfsTer26) c.2564_2565del (p.Glu855ValfsTer26) c.2501_2502del (p.Glu834ValfsTer26) c.2498_2499del (p.Glu833ValfsTer26) c.2456_2457del (p.Glu819ValfsTer26) c.1529_1530del (p.Glu510ValfsTer26) | |
20 | g.63406750T>A | CA409636750 | KCNQ2 | c.2567A>T (p.Glu856Val) c.2513A>T (p.Glu838Val) c.1910A>T (p.Glu637Val) c.2420A>T (p.Glu807Val) c.2081A>T (p.Glu694Val) c.2429A>T (p.Glu810Val) c.2241+296A>T (n.2241+296A>T) c.2205+296A>T (n.2205+296A>T) c.2459A>T (p.Glu820Val) c.2133+296A>T (n.2133+296A>T) c.1680-5907A>T (n.1680-5907A>T) c.2555A>T (p.Glu852Val) c.2621A>T (p.Glu874Val) c.2618A>T (p.Glu873Val) c.2591A>T (p.Glu864Val) c.2537A>T (p.Glu846Val) c.2510A>T (p.Glu837Val) c.2495A>T (p.Glu832Val) c.2102A>T (p.Glu701Val) c.2564A>T (p.Glu855Val) c.2501A>T (p.Glu834Val) c.2498A>T (p.Glu833Val) c.2456A>T (p.Glu819Val) c.1529A>T (p.Glu510Val) | |
20 | g.63406750T>C | CA409636751 | KCNQ2 | c.2567A>G (p.Glu856Gly) c.2513A>G (p.Glu838Gly) c.1910A>G (p.Glu637Gly) c.2420A>G (p.Glu807Gly) c.2081A>G (p.Glu694Gly) c.2429A>G (p.Glu810Gly) c.2241+296A>G (n.2241+296A>G) c.2205+296A>G (n.2205+296A>G) c.2459A>G (p.Glu820Gly) c.2133+296A>G (n.2133+296A>G) c.1680-5907A>G (n.1680-5907A>G) c.2555A>G (p.Glu852Gly) c.2621A>G (p.Glu874Gly) c.2618A>G (p.Glu873Gly) c.2591A>G (p.Glu864Gly) c.2537A>G (p.Glu846Gly) c.2510A>G (p.Glu837Gly) c.2495A>G (p.Glu832Gly) c.2102A>G (p.Glu701Gly) c.2564A>G (p.Glu855Gly) c.2501A>G (p.Glu834Gly) c.2498A>G (p.Glu833Gly) c.2456A>G (p.Glu819Gly) c.1529A>G (p.Glu510Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406750T>G | CA409636753 | KCNQ2 | c.2567A>C (p.Glu856Ala) c.2513A>C (p.Glu838Ala) c.1910A>C (p.Glu637Ala) c.2420A>C (p.Glu807Ala) c.2081A>C (p.Glu694Ala) c.2429A>C (p.Glu810Ala) c.2241+296A>C (n.2241+296A>C) c.2205+296A>C (n.2205+296A>C) c.2459A>C (p.Glu820Ala) c.2133+296A>C (n.2133+296A>C) c.1680-5907A>C (n.1680-5907A>C) c.2555A>C (p.Glu852Ala) c.2621A>C (p.Glu874Ala) c.2618A>C (p.Glu873Ala) c.2591A>C (p.Glu864Ala) c.2537A>C (p.Glu846Ala) c.2510A>C (p.Glu837Ala) c.2495A>C (p.Glu832Ala) c.2102A>C (p.Glu701Ala) c.2564A>C (p.Glu855Ala) c.2501A>C (p.Glu834Ala) c.2498A>C (p.Glu833Ala) c.2456A>C (p.Glu819Ala) c.1529A>C (p.Glu510Ala) | |
20 | g.63406750T= | CA2374774230 | KCNQ2 | c.2567A= (p.Glu856=) c.2513A= (p.Glu838=) c.1910A= (p.Glu637=) c.2420A= (p.Glu807=) c.2081A= (p.Glu694=) c.2429A= (p.Glu810=) c.2241+296A= (n.2241+296A=) c.2205+296A= (n.2205+296A=) c.2459A= (p.Glu820=) c.2133+296A= (n.2133+296A=) c.1680-5907A= (n.1680-5907A=) c.2555A= (p.Glu852=) c.2621A= (p.Glu874=) c.2618A= (p.Glu873=) c.2591A= (p.Glu864=) c.2537A= (p.Glu846=) c.2510A= (p.Glu837=) c.2495A= (p.Glu832=) c.2102A= (p.Glu701=) c.2564A= (p.Glu855=) c.2501A= (p.Glu834=) c.2498A= (p.Glu833=) c.2456A= (p.Glu819=) c.1529A= (p.Glu510=) | |
20 | g.63406751C>A | CA409636756 | KCNQ2 | c.2566G>T (p.Glu856Ter) c.2512G>T (p.Glu838Ter) c.1909G>T (p.Glu637Ter) c.2419G>T (p.Glu807Ter) c.2080G>T (p.Glu694Ter) c.2428G>T (p.Glu810Ter) c.2241+295G>T (n.2241+295G>T) c.2205+295G>T (n.2205+295G>T) c.2458G>T (p.Glu820Ter) c.2133+295G>T (n.2133+295G>T) c.1680-5908G>T (n.1680-5908G>T) c.2554G>T (p.Glu852Ter) c.2620G>T (p.Glu874Ter) c.2617G>T (p.Glu873Ter) c.2590G>T (p.Glu864Ter) c.2536G>T (p.Glu846Ter) c.2509G>T (p.Glu837Ter) c.2494G>T (p.Glu832Ter) c.2101G>T (p.Glu701Ter) c.2563G>T (p.Glu855Ter) c.2500G>T (p.Glu834Ter) c.2497G>T (p.Glu833Ter) c.2455G>T (p.Glu819Ter) c.1528G>T (p.Glu510Ter) | |
20 | g.63406751C>G | CA409636757 | KCNQ2 | c.2566G>C (p.Glu856Gln) c.2512G>C (p.Glu838Gln) c.1909G>C (p.Glu637Gln) c.2419G>C (p.Glu807Gln) c.2080G>C (p.Glu694Gln) c.2428G>C (p.Glu810Gln) c.2241+295G>C (n.2241+295G>C) c.2205+295G>C (n.2205+295G>C) c.2458G>C (p.Glu820Gln) c.2133+295G>C (n.2133+295G>C) c.1680-5908G>C (n.1680-5908G>C) c.2554G>C (p.Glu852Gln) c.2620G>C (p.Glu874Gln) c.2617G>C (p.Glu873Gln) c.2590G>C (p.Glu864Gln) c.2536G>C (p.Glu846Gln) c.2509G>C (p.Glu837Gln) c.2494G>C (p.Glu832Gln) c.2101G>C (p.Glu701Gln) c.2563G>C (p.Glu855Gln) c.2500G>C (p.Glu834Gln) c.2497G>C (p.Glu833Gln) c.2455G>C (p.Glu819Gln) c.1528G>C (p.Glu510Gln) | ClinVar |
20 | g.63406751C>T | CA409636755 | KCNQ2 | c.2566G>A (p.Glu856Lys) c.2512G>A (p.Glu838Lys) c.1909G>A (p.Glu637Lys) c.2419G>A (p.Glu807Lys) c.2080G>A (p.Glu694Lys) c.2428G>A (p.Glu810Lys) c.2241+295G>A (n.2241+295G>A) c.2205+295G>A (n.2205+295G>A) c.2458G>A (p.Glu820Lys) c.2133+295G>A (n.2133+295G>A) c.1680-5908G>A (n.1680-5908G>A) c.2554G>A (p.Glu852Lys) c.2620G>A (p.Glu874Lys) c.2617G>A (p.Glu873Lys) c.2590G>A (p.Glu864Lys) c.2536G>A (p.Glu846Lys) c.2509G>A (p.Glu837Lys) c.2494G>A (p.Glu832Lys) c.2101G>A (p.Glu701Lys) c.2563G>A (p.Glu855Lys) c.2500G>A (p.Glu834Lys) c.2497G>A (p.Glu833Lys) c.2455G>A (p.Glu819Lys) c.1528G>A (p.Glu510Lys) | |
20 | g.63406752T>A | CA511339232 | KCNQ2 | c.2565A>T (p.Gly855=) c.2511A>T (p.Gly837=) c.1908A>T (p.Gly636=) c.2418A>T (p.Gly806=) c.2079A>T (p.Gly693=) c.2427A>T (p.Gly809=) c.2241+294A>T (n.2241+294A>T) c.2205+294A>T (n.2205+294A>T) c.2457A>T (p.Gly819=) c.2133+294A>T (n.2133+294A>T) c.1680-5909A>T (n.1680-5909A>T) c.2553A>T (p.Gly851=) c.2619A>T (p.Gly873=) c.2616A>T (p.Gly872=) c.2589A>T (p.Gly863=) c.2535A>T (p.Gly845=) c.2508A>T (p.Gly836=) c.2493A>T (p.Gly831=) c.2100A>T (p.Gly700=) c.2562A>T (p.Gly854=) c.2499A>T (p.Gly833=) c.2496A>T (p.Gly832=) c.2454A>T (p.Gly818=) c.1527A>T (p.Gly509=) | |
20 | g.63406752T>C | CA511339233 | KCNQ2 | c.2565A>G (p.Gly855=) c.2511A>G (p.Gly837=) c.1908A>G (p.Gly636=) c.2418A>G (p.Gly806=) c.2079A>G (p.Gly693=) c.2427A>G (p.Gly809=) c.2241+294A>G (n.2241+294A>G) c.2205+294A>G (n.2205+294A>G) c.2457A>G (p.Gly819=) c.2133+294A>G (n.2133+294A>G) c.1680-5909A>G (n.1680-5909A>G) c.2553A>G (p.Gly851=) c.2619A>G (p.Gly873=) c.2616A>G (p.Gly872=) c.2589A>G (p.Gly863=) c.2535A>G (p.Gly845=) c.2508A>G (p.Gly836=) c.2493A>G (p.Gly831=) c.2100A>G (p.Gly700=) c.2562A>G (p.Gly854=) c.2499A>G (p.Gly833=) c.2496A>G (p.Gly832=) c.2454A>G (p.Gly818=) c.1527A>G (p.Gly509=) | |
20 | g.63406752T>G | CA511339234 | KCNQ2 | c.2565A>C (p.Gly855=) c.2511A>C (p.Gly837=) c.1908A>C (p.Gly636=) c.2418A>C (p.Gly806=) c.2079A>C (p.Gly693=) c.2427A>C (p.Gly809=) c.2241+294A>C (n.2241+294A>C) c.2205+294A>C (n.2205+294A>C) c.2457A>C (p.Gly819=) c.2133+294A>C (n.2133+294A>C) c.1680-5909A>C (n.1680-5909A>C) c.2553A>C (p.Gly851=) c.2619A>C (p.Gly873=) c.2616A>C (p.Gly872=) c.2589A>C (p.Gly863=) c.2535A>C (p.Gly845=) c.2508A>C (p.Gly836=) c.2493A>C (p.Gly831=) c.2100A>C (p.Gly700=) c.2562A>C (p.Gly854=) c.2499A>C (p.Gly833=) c.2496A>C (p.Gly832=) c.2454A>C (p.Gly818=) c.1527A>C (p.Gly509=) | |
20 | g.63406753C>A | CA409636762 | KCNQ2 | c.2564G>T (p.Gly855Val) c.2510G>T (p.Gly837Val) c.1907G>T (p.Gly636Val) c.2417G>T (p.Gly806Val) c.2078G>T (p.Gly693Val) c.2426G>T (p.Gly809Val) c.2241+293G>T (n.2241+293G>T) c.2205+293G>T (n.2205+293G>T) c.2456G>T (p.Gly819Val) c.2133+293G>T (n.2133+293G>T) c.1680-5910G>T (n.1680-5910G>T) c.2552G>T (p.Gly851Val) c.2618G>T (p.Gly873Val) c.2615G>T (p.Gly872Val) c.2588G>T (p.Gly863Val) c.2534G>T (p.Gly845Val) c.2507G>T (p.Gly836Val) c.2492G>T (p.Gly831Val) c.2099G>T (p.Gly700Val) c.2561G>T (p.Gly854Val) c.2498G>T (p.Gly833Val) c.2495G>T (p.Gly832Val) c.2453G>T (p.Gly818Val) c.1526G>T (p.Gly509Val) | gnomAD v4 |
20 | g.63406753C>G | CA409636760 | KCNQ2 | c.2564G>C (p.Gly855Ala) c.2510G>C (p.Gly837Ala) c.1907G>C (p.Gly636Ala) c.2417G>C (p.Gly806Ala) c.2078G>C (p.Gly693Ala) c.2426G>C (p.Gly809Ala) c.2241+293G>C (n.2241+293G>C) c.2205+293G>C (n.2205+293G>C) c.2456G>C (p.Gly819Ala) c.2133+293G>C (n.2133+293G>C) c.1680-5910G>C (n.1680-5910G>C) c.2552G>C (p.Gly851Ala) c.2618G>C (p.Gly873Ala) c.2615G>C (p.Gly872Ala) c.2588G>C (p.Gly863Ala) c.2534G>C (p.Gly845Ala) c.2507G>C (p.Gly836Ala) c.2492G>C (p.Gly831Ala) c.2099G>C (p.Gly700Ala) c.2561G>C (p.Gly854Ala) c.2498G>C (p.Gly833Ala) c.2495G>C (p.Gly832Ala) c.2453G>C (p.Gly818Ala) c.1526G>C (p.Gly509Ala) | |
20 | g.63406753C>T | CA409636763 | KCNQ2 | c.2564G>A (p.Gly855Glu) c.2510G>A (p.Gly837Glu) c.1907G>A (p.Gly636Glu) c.2417G>A (p.Gly806Glu) c.2078G>A (p.Gly693Glu) c.2426G>A (p.Gly809Glu) c.2241+293G>A (n.2241+293G>A) c.2205+293G>A (n.2205+293G>A) c.2456G>A (p.Gly819Glu) c.2133+293G>A (n.2133+293G>A) c.1680-5910G>A (n.1680-5910G>A) c.2552G>A (p.Gly851Glu) c.2618G>A (p.Gly873Glu) c.2615G>A (p.Gly872Glu) c.2588G>A (p.Gly863Glu) c.2534G>A (p.Gly845Glu) c.2507G>A (p.Gly836Glu) c.2492G>A (p.Gly831Glu) c.2099G>A (p.Gly700Glu) c.2561G>A (p.Gly854Glu) c.2498G>A (p.Gly833Glu) c.2495G>A (p.Gly832Glu) c.2453G>A (p.Gly818Glu) c.1526G>A (p.Gly509Glu) | gnomAD v4 |
20 | g.63406754C>A | CA409636766 | KCNQ2 | c.2563G>T (p.Gly855Ter) c.2509G>T (p.Gly837Ter) c.1906G>T (p.Gly636Ter) c.2416G>T (p.Gly806Ter) c.2077G>T (p.Gly693Ter) c.2425G>T (p.Gly809Ter) c.2241+292G>T (n.2241+292G>T) c.2205+292G>T (n.2205+292G>T) c.2455G>T (p.Gly819Ter) c.2133+292G>T (n.2133+292G>T) c.1680-5911G>T (n.1680-5911G>T) c.2551G>T (p.Gly851Ter) c.2617G>T (p.Gly873Ter) c.2614G>T (p.Gly872Ter) c.2587G>T (p.Gly863Ter) c.2533G>T (p.Gly845Ter) c.2506G>T (p.Gly836Ter) c.2491G>T (p.Gly831Ter) c.2098G>T (p.Gly700Ter) c.2560G>T (p.Gly854Ter) c.2497G>T (p.Gly833Ter) c.2494G>T (p.Gly832Ter) c.2452G>T (p.Gly818Ter) c.1525G>T (p.Gly509Ter) | |
20 | g.63406754C>G | CA409636768 | KCNQ2 | c.2563G>C (p.Gly855Arg) c.2509G>C (p.Gly837Arg) c.1906G>C (p.Gly636Arg) c.2416G>C (p.Gly806Arg) c.2077G>C (p.Gly693Arg) c.2425G>C (p.Gly809Arg) c.2241+292G>C (n.2241+292G>C) c.2205+292G>C (n.2205+292G>C) c.2455G>C (p.Gly819Arg) c.2133+292G>C (n.2133+292G>C) c.1680-5911G>C (n.1680-5911G>C) c.2551G>C (p.Gly851Arg) c.2617G>C (p.Gly873Arg) c.2614G>C (p.Gly872Arg) c.2587G>C (p.Gly863Arg) c.2533G>C (p.Gly845Arg) c.2506G>C (p.Gly836Arg) c.2491G>C (p.Gly831Arg) c.2098G>C (p.Gly700Arg) c.2560G>C (p.Gly854Arg) c.2497G>C (p.Gly833Arg) c.2494G>C (p.Gly832Arg) c.2452G>C (p.Gly818Arg) c.1525G>C (p.Gly509Arg) | |
20 | g.63406754C>T | CA409636770 | KCNQ2 | c.2563G>A (p.Gly855Arg) c.2509G>A (p.Gly837Arg) c.1906G>A (p.Gly636Arg) c.2416G>A (p.Gly806Arg) c.2077G>A (p.Gly693Arg) c.2425G>A (p.Gly809Arg) c.2241+292G>A (n.2241+292G>A) c.2205+292G>A (n.2205+292G>A) c.2455G>A (p.Gly819Arg) c.2133+292G>A (n.2133+292G>A) c.1680-5911G>A (n.1680-5911G>A) c.2551G>A (p.Gly851Arg) c.2617G>A (p.Gly873Arg) c.2614G>A (p.Gly872Arg) c.2587G>A (p.Gly863Arg) c.2533G>A (p.Gly845Arg) c.2506G>A (p.Gly836Arg) c.2491G>A (p.Gly831Arg) c.2098G>A (p.Gly700Arg) c.2560G>A (p.Gly854Arg) c.2497G>A (p.Gly833Arg) c.2494G>A (p.Gly832Arg) c.2452G>A (p.Gly818Arg) c.1525G>A (p.Gly509Arg) | |
20 | g.63406755C>A | CA409636772 | KCNQ2 | c.2562G>T (p.Glu854Asp) c.2508G>T (p.Glu836Asp) c.1905G>T (p.Glu635Asp) c.2415G>T (p.Glu805Asp) c.2076G>T (p.Glu692Asp) c.2424G>T (p.Glu808Asp) c.2241+291G>T (n.2241+291G>T) c.2205+291G>T (n.2205+291G>T) c.2454G>T (p.Glu818Asp) c.2133+291G>T (n.2133+291G>T) c.1680-5912G>T (n.1680-5912G>T) c.2550G>T (p.Glu850Asp) c.2616G>T (p.Glu872Asp) c.2613G>T (p.Glu871Asp) c.2586G>T (p.Glu862Asp) c.2532G>T (p.Glu844Asp) c.2505G>T (p.Glu835Asp) c.2490G>T (p.Glu830Asp) c.2097G>T (p.Glu699Asp) c.2559G>T (p.Glu853Asp) c.2496G>T (p.Glu832Asp) c.2493G>T (p.Glu831Asp) c.2451G>T (p.Glu817Asp) c.1524G>T (p.Glu508Asp) | |
20 | g.63406755C>G | CA409636774 | KCNQ2 | c.2562G>C (p.Glu854Asp) c.2508G>C (p.Glu836Asp) c.1905G>C (p.Glu635Asp) c.2415G>C (p.Glu805Asp) c.2076G>C (p.Glu692Asp) c.2424G>C (p.Glu808Asp) c.2241+291G>C (n.2241+291G>C) c.2205+291G>C (n.2205+291G>C) c.2454G>C (p.Glu818Asp) c.2133+291G>C (n.2133+291G>C) c.1680-5912G>C (n.1680-5912G>C) c.2550G>C (p.Glu850Asp) c.2616G>C (p.Glu872Asp) c.2613G>C (p.Glu871Asp) c.2586G>C (p.Glu862Asp) c.2532G>C (p.Glu844Asp) c.2505G>C (p.Glu835Asp) c.2490G>C (p.Glu830Asp) c.2097G>C (p.Glu699Asp) c.2559G>C (p.Glu853Asp) c.2496G>C (p.Glu832Asp) c.2493G>C (p.Glu831Asp) c.2451G>C (p.Glu817Asp) c.1524G>C (p.Glu508Asp) | |
20 | g.63406755C>T | CA511339235 | KCNQ2 | c.2562G>A (p.Glu854=) c.2508G>A (p.Glu836=) c.1905G>A (p.Glu635=) c.2415G>A (p.Glu805=) c.2076G>A (p.Glu692=) c.2424G>A (p.Glu808=) c.2241+291G>A (n.2241+291G>A) c.2205+291G>A (n.2205+291G>A) c.2454G>A (p.Glu818=) c.2133+291G>A (n.2133+291G>A) c.1680-5912G>A (n.1680-5912G>A) c.2550G>A (p.Glu850=) c.2616G>A (p.Glu872=) c.2613G>A (p.Glu871=) c.2586G>A (p.Glu862=) c.2532G>A (p.Glu844=) c.2505G>A (p.Glu835=) c.2490G>A (p.Glu830=) c.2097G>A (p.Glu699=) c.2559G>A (p.Glu853=) c.2496G>A (p.Glu832=) c.2493G>A (p.Glu831=) c.2451G>A (p.Glu817=) c.1524G>A (p.Glu508=) | gnomAD v4 |
20 | g.63406756T>A | CA409636776 | KCNQ2 | c.2561A>T (p.Glu854Val) c.2507A>T (p.Glu836Val) c.1904A>T (p.Glu635Val) c.2414A>T (p.Glu805Val) c.2075A>T (p.Glu692Val) c.2423A>T (p.Glu808Val) c.2241+290A>T (n.2241+290A>T) c.2205+290A>T (n.2205+290A>T) c.2453A>T (p.Glu818Val) c.2133+290A>T (n.2133+290A>T) c.1680-5913A>T (n.1680-5913A>T) c.2549A>T (p.Glu850Val) c.2615A>T (p.Glu872Val) c.2612A>T (p.Glu871Val) c.2585A>T (p.Glu862Val) c.2531A>T (p.Glu844Val) c.2504A>T (p.Glu835Val) c.2489A>T (p.Glu830Val) c.2096A>T (p.Glu699Val) c.2558A>T (p.Glu853Val) c.2495A>T (p.Glu832Val) c.2492A>T (p.Glu831Val) c.2450A>T (p.Glu817Val) c.1523A>T (p.Glu508Val) | |
20 | g.63406756T>C | CA409636778 | KCNQ2 | c.2561A>G (p.Glu854Gly) c.2507A>G (p.Glu836Gly) c.1904A>G (p.Glu635Gly) c.2414A>G (p.Glu805Gly) c.2075A>G (p.Glu692Gly) c.2423A>G (p.Glu808Gly) c.2241+290A>G (n.2241+290A>G) c.2205+290A>G (n.2205+290A>G) c.2453A>G (p.Glu818Gly) c.2133+290A>G (n.2133+290A>G) c.1680-5913A>G (n.1680-5913A>G) c.2549A>G (p.Glu850Gly) c.2615A>G (p.Glu872Gly) c.2612A>G (p.Glu871Gly) c.2585A>G (p.Glu862Gly) c.2531A>G (p.Glu844Gly) c.2504A>G (p.Glu835Gly) c.2489A>G (p.Glu830Gly) c.2096A>G (p.Glu699Gly) c.2558A>G (p.Glu853Gly) c.2495A>G (p.Glu832Gly) c.2492A>G (p.Glu831Gly) c.2450A>G (p.Glu817Gly) c.1523A>G (p.Glu508Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406756T>G | CA409636779 | KCNQ2 | c.2561A>C (p.Glu854Ala) c.2507A>C (p.Glu836Ala) c.1904A>C (p.Glu635Ala) c.2414A>C (p.Glu805Ala) c.2075A>C (p.Glu692Ala) c.2423A>C (p.Glu808Ala) c.2241+290A>C (n.2241+290A>C) c.2205+290A>C (n.2205+290A>C) c.2453A>C (p.Glu818Ala) c.2133+290A>C (n.2133+290A>C) c.1680-5913A>C (n.1680-5913A>C) c.2549A>C (p.Glu850Ala) c.2615A>C (p.Glu872Ala) c.2612A>C (p.Glu871Ala) c.2585A>C (p.Glu862Ala) c.2531A>C (p.Glu844Ala) c.2504A>C (p.Glu835Ala) c.2489A>C (p.Glu830Ala) c.2096A>C (p.Glu699Ala) c.2558A>C (p.Glu853Ala) c.2495A>C (p.Glu832Ala) c.2492A>C (p.Glu831Ala) c.2450A>C (p.Glu817Ala) c.1523A>C (p.Glu508Ala) | |
20 | g.63406756T= | CA2374774231 | KCNQ2 | c.2561A= (p.Glu854=) c.2507A= (p.Glu836=) c.1904A= (p.Glu635=) c.2414A= (p.Glu805=) c.2075A= (p.Glu692=) c.2423A= (p.Glu808=) c.2241+290A= (n.2241+290A=) c.2205+290A= (n.2205+290A=) c.2453A= (p.Glu818=) c.2133+290A= (n.2133+290A=) c.1680-5913A= (n.1680-5913A=) c.2549A= (p.Glu850=) c.2615A= (p.Glu872=) c.2612A= (p.Glu871=) c.2585A= (p.Glu862=) c.2531A= (p.Glu844=) c.2504A= (p.Glu835=) c.2489A= (p.Glu830=) c.2096A= (p.Glu699=) c.2558A= (p.Glu853=) c.2495A= (p.Glu832=) c.2492A= (p.Glu831=) c.2450A= (p.Glu817=) c.1523A= (p.Glu508=) | |
20 | g.63406757C>A | CA409636782 | KCNQ2 | c.2560G>T (p.Glu854Ter) c.2506G>T (p.Glu836Ter) c.1903G>T (p.Glu635Ter) c.2413G>T (p.Glu805Ter) c.2074G>T (p.Glu692Ter) c.2422G>T (p.Glu808Ter) c.2241+289G>T (n.2241+289G>T) c.2205+289G>T (n.2205+289G>T) c.2452G>T (p.Glu818Ter) c.2133+289G>T (n.2133+289G>T) c.1680-5914G>T (n.1680-5914G>T) c.2548G>T (p.Glu850Ter) c.2614G>T (p.Glu872Ter) c.2611G>T (p.Glu871Ter) c.2584G>T (p.Glu862Ter) c.2530G>T (p.Glu844Ter) c.2503G>T (p.Glu835Ter) c.2488G>T (p.Glu830Ter) c.2095G>T (p.Glu699Ter) c.2557G>T (p.Glu853Ter) c.2494G>T (p.Glu832Ter) c.2491G>T (p.Glu831Ter) c.2449G>T (p.Glu817Ter) c.1522G>T (p.Glu508Ter) | |
20 | g.63406757C>G | CA409636784 | KCNQ2 | c.2560G>C (p.Glu854Gln) c.2506G>C (p.Glu836Gln) c.1903G>C (p.Glu635Gln) c.2413G>C (p.Glu805Gln) c.2074G>C (p.Glu692Gln) c.2422G>C (p.Glu808Gln) c.2241+289G>C (n.2241+289G>C) c.2205+289G>C (n.2205+289G>C) c.2452G>C (p.Glu818Gln) c.2133+289G>C (n.2133+289G>C) c.1680-5914G>C (n.1680-5914G>C) c.2548G>C (p.Glu850Gln) c.2614G>C (p.Glu872Gln) c.2611G>C (p.Glu871Gln) c.2584G>C (p.Glu862Gln) c.2530G>C (p.Glu844Gln) c.2503G>C (p.Glu835Gln) c.2488G>C (p.Glu830Gln) c.2095G>C (p.Glu699Gln) c.2557G>C (p.Glu853Gln) c.2494G>C (p.Glu832Gln) c.2491G>C (p.Glu831Gln) c.2449G>C (p.Glu817Gln) c.1522G>C (p.Glu508Gln) | ClinVar gnomAD v4 |
20 | g.63406757C>T | CA409636786 | KCNQ2 | c.2560G>A (p.Glu854Lys) c.2506G>A (p.Glu836Lys) c.1903G>A (p.Glu635Lys) c.2413G>A (p.Glu805Lys) c.2074G>A (p.Glu692Lys) c.2422G>A (p.Glu808Lys) c.2241+289G>A (n.2241+289G>A) c.2205+289G>A (n.2205+289G>A) c.2452G>A (p.Glu818Lys) c.2133+289G>A (n.2133+289G>A) c.1680-5914G>A (n.1680-5914G>A) c.2548G>A (p.Glu850Lys) c.2614G>A (p.Glu872Lys) c.2611G>A (p.Glu871Lys) c.2584G>A (p.Glu862Lys) c.2530G>A (p.Glu844Lys) c.2503G>A (p.Glu835Lys) c.2488G>A (p.Glu830Lys) c.2095G>A (p.Glu699Lys) c.2557G>A (p.Glu853Lys) c.2494G>A (p.Glu832Lys) c.2491G>A (p.Glu831Lys) c.2449G>A (p.Glu817Lys) c.1522G>A (p.Glu508Lys) | gnomAD v4 |
20 | g.63406758C>A | CA511339238 | KCNQ2 | c.2559G>T (p.Ala853=) c.2505G>T (p.Ala835=) c.1902G>T (p.Ala634=) c.2412G>T (p.Ala804=) c.2073G>T (p.Ala691=) c.2421G>T (p.Ala807=) c.2241+288G>T (n.2241+288G>T) c.2205+288G>T (n.2205+288G>T) c.2451G>T (p.Ala817=) c.2133+288G>T (n.2133+288G>T) c.1680-5915G>T (n.1680-5915G>T) c.2547G>T (p.Ala849=) c.2613G>T (p.Ala871=) c.2610G>T (p.Ala870=) c.2583G>T (p.Ala861=) c.2529G>T (p.Ala843=) c.2502G>T (p.Ala834=) c.2487G>T (p.Ala829=) c.2094G>T (p.Ala698=) c.2556G>T (p.Ala852=) c.2493G>T (p.Ala831=) c.2490G>T (p.Ala830=) c.2448G>T (p.Ala816=) c.1521G>T (p.Ala507=) | dbSNP gnomAD v4 |
20 | g.63406758C= | CA2374774232 | KCNQ2 | c.2559G= (p.Ala853=) c.2505G= (p.Ala835=) c.1902G= (p.Ala634=) c.2412G= (p.Ala804=) c.2073G= (p.Ala691=) c.2421G= (p.Ala807=) c.2241+288G= (n.2241+288G=) c.2205+288G= (n.2205+288G=) c.2451G= (p.Ala817=) c.2133+288G= (n.2133+288G=) c.1680-5915G= (n.1680-5915G=) c.2547G= (p.Ala849=) c.2613G= (p.Ala871=) c.2610G= (p.Ala870=) c.2583G= (p.Ala861=) c.2529G= (p.Ala843=) c.2502G= (p.Ala834=) c.2487G= (p.Ala829=) c.2094G= (p.Ala698=) c.2556G= (p.Ala852=) c.2493G= (p.Ala831=) c.2490G= (p.Ala830=) c.2448G= (p.Ala816=) c.1521G= (p.Ala507=) | |
20 | g.63406758C>G | CA511339237 | KCNQ2 | c.2559G>C (p.Ala853=) c.2505G>C (p.Ala835=) c.1902G>C (p.Ala634=) c.2412G>C (p.Ala804=) c.2073G>C (p.Ala691=) c.2421G>C (p.Ala807=) c.2241+288G>C (n.2241+288G>C) c.2205+288G>C (n.2205+288G>C) c.2451G>C (p.Ala817=) c.2133+288G>C (n.2133+288G>C) c.1680-5915G>C (n.1680-5915G>C) c.2547G>C (p.Ala849=) c.2613G>C (p.Ala871=) c.2610G>C (p.Ala870=) c.2583G>C (p.Ala861=) c.2529G>C (p.Ala843=) c.2502G>C (p.Ala834=) c.2487G>C (p.Ala829=) c.2094G>C (p.Ala698=) c.2556G>C (p.Ala852=) c.2493G>C (p.Ala831=) c.2490G>C (p.Ala830=) c.2448G>C (p.Ala816=) c.1521G>C (p.Ala507=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406758C>T | CA9958066 | KCNQ2 | c.2559G>A (p.Ala853=) c.2505G>A (p.Ala835=) c.1902G>A (p.Ala634=) c.2412G>A (p.Ala804=) c.2073G>A (p.Ala691=) c.2421G>A (p.Ala807=) c.2241+288G>A (n.2241+288G>A) c.2205+288G>A (n.2205+288G>A) c.2451G>A (p.Ala817=) c.2133+288G>A (n.2133+288G>A) c.1680-5915G>A (n.1680-5915G>A) c.2547G>A (p.Ala849=) c.2613G>A (p.Ala871=) c.2610G>A (p.Ala870=) c.2583G>A (p.Ala861=) c.2529G>A (p.Ala843=) c.2502G>A (p.Ala834=) c.2487G>A (p.Ala829=) c.2094G>A (p.Ala698=) c.2556G>A (p.Ala852=) c.2493G>A (p.Ala831=) c.2490G>A (p.Ala830=) c.2448G>A (p.Ala816=) c.1521G>A (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406759G>A | CA9958067 | KCNQ2 | c.2558C>T (p.Ala853Val) c.2504C>T (p.Ala835Val) c.1901C>T (p.Ala634Val) c.2411C>T (p.Ala804Val) c.2072C>T (p.Ala691Val) c.2420C>T (p.Ala807Val) c.2241+287C>T (n.2241+287C>T) c.2205+287C>T (n.2205+287C>T) c.2450C>T (p.Ala817Val) c.2133+287C>T (n.2133+287C>T) c.1680-5916C>T (n.1680-5916C>T) c.2546C>T (p.Ala849Val) c.2612C>T (p.Ala871Val) c.2609C>T (p.Ala870Val) c.2582C>T (p.Ala861Val) c.2528C>T (p.Ala843Val) c.2501C>T (p.Ala834Val) c.2486C>T (p.Ala829Val) c.2093C>T (p.Ala698Val) c.2555C>T (p.Ala852Val) c.2492C>T (p.Ala831Val) c.2489C>T (p.Ala830Val) c.2447C>T (p.Ala816Val) c.1520C>T (p.Ala507Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406759G>C | CA409636791 | KCNQ2 | c.2558C>G (p.Ala853Gly) c.2504C>G (p.Ala835Gly) c.1901C>G (p.Ala634Gly) c.2411C>G (p.Ala804Gly) c.2072C>G (p.Ala691Gly) c.2420C>G (p.Ala807Gly) c.2241+287C>G (n.2241+287C>G) c.2205+287C>G (n.2205+287C>G) c.2450C>G (p.Ala817Gly) c.2133+287C>G (n.2133+287C>G) c.1680-5916C>G (n.1680-5916C>G) c.2546C>G (p.Ala849Gly) c.2612C>G (p.Ala871Gly) c.2609C>G (p.Ala870Gly) c.2582C>G (p.Ala861Gly) c.2528C>G (p.Ala843Gly) c.2501C>G (p.Ala834Gly) c.2486C>G (p.Ala829Gly) c.2093C>G (p.Ala698Gly) c.2555C>G (p.Ala852Gly) c.2492C>G (p.Ala831Gly) c.2489C>G (p.Ala830Gly) c.2447C>G (p.Ala816Gly) c.1520C>G (p.Ala507Gly) | |
20 | g.63406759G= | CA2374774233 | KCNQ2 | c.2558C= (p.Ala853=) c.2504C= (p.Ala835=) c.1901C= (p.Ala634=) c.2411C= (p.Ala804=) c.2072C= (p.Ala691=) c.2420C= (p.Ala807=) c.2241+287C= (n.2241+287C=) c.2205+287C= (n.2205+287C=) c.2450C= (p.Ala817=) c.2133+287C= (n.2133+287C=) c.1680-5916C= (n.1680-5916C=) c.2546C= (p.Ala849=) c.2612C= (p.Ala871=) c.2609C= (p.Ala870=) c.2582C= (p.Ala861=) c.2528C= (p.Ala843=) c.2501C= (p.Ala834=) c.2486C= (p.Ala829=) c.2093C= (p.Ala698=) c.2555C= (p.Ala852=) c.2492C= (p.Ala831=) c.2489C= (p.Ala830=) c.2447C= (p.Ala816=) c.1520C= (p.Ala507=) | |
20 | g.63406759G>T | CA409636789 | KCNQ2 | c.2558C>A (p.Ala853Glu) c.2504C>A (p.Ala835Glu) c.1901C>A (p.Ala634Glu) c.2411C>A (p.Ala804Glu) c.2072C>A (p.Ala691Glu) c.2420C>A (p.Ala807Glu) c.2241+287C>A (n.2241+287C>A) c.2205+287C>A (n.2205+287C>A) c.2450C>A (p.Ala817Glu) c.2133+287C>A (n.2133+287C>A) c.1680-5916C>A (n.1680-5916C>A) c.2546C>A (p.Ala849Glu) c.2612C>A (p.Ala871Glu) c.2609C>A (p.Ala870Glu) c.2582C>A (p.Ala861Glu) c.2528C>A (p.Ala843Glu) c.2501C>A (p.Ala834Glu) c.2486C>A (p.Ala829Glu) c.2093C>A (p.Ala698Glu) c.2555C>A (p.Ala852Glu) c.2492C>A (p.Ala831Glu) c.2489C>A (p.Ala830Glu) c.2447C>A (p.Ala816Glu) c.1520C>A (p.Ala507Glu) | |
20 | g.63406760C>A | CA409636795 | KCNQ2 | c.2557G>T (p.Ala853Ser) c.2503G>T (p.Ala835Ser) c.1900G>T (p.Ala634Ser) c.2410G>T (p.Ala804Ser) c.2071G>T (p.Ala691Ser) c.2419G>T (p.Ala807Ser) c.2241+286G>T (n.2241+286G>T) c.2205+286G>T (n.2205+286G>T) c.2449G>T (p.Ala817Ser) c.2133+286G>T (n.2133+286G>T) c.1680-5917G>T (n.1680-5917G>T) c.2545G>T (p.Ala849Ser) c.2611G>T (p.Ala871Ser) c.2608G>T (p.Ala870Ser) c.2581G>T (p.Ala861Ser) c.2527G>T (p.Ala843Ser) c.2500G>T (p.Ala834Ser) c.2485G>T (p.Ala829Ser) c.2092G>T (p.Ala698Ser) c.2554G>T (p.Ala852Ser) c.2491G>T (p.Ala831Ser) c.2488G>T (p.Ala830Ser) c.2446G>T (p.Ala816Ser) c.1519G>T (p.Ala507Ser) | |
20 | g.63406760C>G | CA409636796 | KCNQ2 | c.2557G>C (p.Ala853Pro) c.2503G>C (p.Ala835Pro) c.1900G>C (p.Ala634Pro) c.2410G>C (p.Ala804Pro) c.2071G>C (p.Ala691Pro) c.2419G>C (p.Ala807Pro) c.2241+286G>C (n.2241+286G>C) c.2205+286G>C (n.2205+286G>C) c.2449G>C (p.Ala817Pro) c.2133+286G>C (n.2133+286G>C) c.1680-5917G>C (n.1680-5917G>C) c.2545G>C (p.Ala849Pro) c.2611G>C (p.Ala871Pro) c.2608G>C (p.Ala870Pro) c.2581G>C (p.Ala861Pro) c.2527G>C (p.Ala843Pro) c.2500G>C (p.Ala834Pro) c.2485G>C (p.Ala829Pro) c.2092G>C (p.Ala698Pro) c.2554G>C (p.Ala852Pro) c.2491G>C (p.Ala831Pro) c.2488G>C (p.Ala830Pro) c.2446G>C (p.Ala816Pro) c.1519G>C (p.Ala507Pro) | |
20 | g.63406760C>T | CA409636797 | KCNQ2 | c.2557G>A (p.Ala853Thr) c.2503G>A (p.Ala835Thr) c.1900G>A (p.Ala634Thr) c.2410G>A (p.Ala804Thr) c.2071G>A (p.Ala691Thr) c.2419G>A (p.Ala807Thr) c.2241+286G>A (n.2241+286G>A) c.2205+286G>A (n.2205+286G>A) c.2449G>A (p.Ala817Thr) c.2133+286G>A (n.2133+286G>A) c.1680-5917G>A (n.1680-5917G>A) c.2545G>A (p.Ala849Thr) c.2611G>A (p.Ala871Thr) c.2608G>A (p.Ala870Thr) c.2581G>A (p.Ala861Thr) c.2527G>A (p.Ala843Thr) c.2500G>A (p.Ala834Thr) c.2485G>A (p.Ala829Thr) c.2092G>A (p.Ala698Thr) c.2554G>A (p.Ala852Thr) c.2491G>A (p.Ala831Thr) c.2488G>A (p.Ala830Thr) c.2446G>A (p.Ala816Thr) c.1519G>A (p.Ala507Thr) | |
20 | g.63406761A>C | CA409636800 | KCNQ2 | c.2556T>G (p.Ile852Met) c.2502T>G (p.Ile834Met) c.1899T>G (p.Ile633Met) c.2409T>G (p.Ile803Met) c.2070T>G (p.Ile690Met) c.2418T>G (p.Ile806Met) c.2241+285T>G (n.2241+285T>G) c.2205+285T>G (n.2205+285T>G) c.2448T>G (p.Ile816Met) c.2133+285T>G (n.2133+285T>G) c.1680-5918T>G (n.1680-5918T>G) c.2544T>G (p.Ile848Met) c.2610T>G (p.Ile870Met) c.2607T>G (p.Ile869Met) c.2580T>G (p.Ile860Met) c.2526T>G (p.Ile842Met) c.2499T>G (p.Ile833Met) c.2484T>G (p.Ile828Met) c.2091T>G (p.Ile697Met) c.2553T>G (p.Ile851Met) c.2490T>G (p.Ile830Met) c.2487T>G (p.Ile829Met) c.2445T>G (p.Ile815Met) c.1518T>G (p.Ile506Met) | |
20 | g.63406761A>G | CA511339245 | KCNQ2 | c.2556T>C (p.Ile852=) c.2502T>C (p.Ile834=) c.1899T>C (p.Ile633=) c.2409T>C (p.Ile803=) c.2070T>C (p.Ile690=) c.2418T>C (p.Ile806=) c.2241+285T>C (n.2241+285T>C) c.2205+285T>C (n.2205+285T>C) c.2448T>C (p.Ile816=) c.2133+285T>C (n.2133+285T>C) c.1680-5918T>C (n.1680-5918T>C) c.2544T>C (p.Ile848=) c.2610T>C (p.Ile870=) c.2607T>C (p.Ile869=) c.2580T>C (p.Ile860=) c.2526T>C (p.Ile842=) c.2499T>C (p.Ile833=) c.2484T>C (p.Ile828=) c.2091T>C (p.Ile697=) c.2553T>C (p.Ile851=) c.2490T>C (p.Ile830=) c.2487T>C (p.Ile829=) c.2445T>C (p.Ile815=) c.1518T>C (p.Ile506=) | dbSNP gnomAD v4 |
20 | g.63406761A>T | CA511339242 | KCNQ2 | c.2556T>A (p.Ile852=) c.2502T>A (p.Ile834=) c.1899T>A (p.Ile633=) c.2409T>A (p.Ile803=) c.2070T>A (p.Ile690=) c.2418T>A (p.Ile806=) c.2241+285T>A (n.2241+285T>A) c.2205+285T>A (n.2205+285T>A) c.2448T>A (p.Ile816=) c.2133+285T>A (n.2133+285T>A) c.1680-5918T>A (n.1680-5918T>A) c.2544T>A (p.Ile848=) c.2610T>A (p.Ile870=) c.2607T>A (p.Ile869=) c.2580T>A (p.Ile860=) c.2526T>A (p.Ile842=) c.2499T>A (p.Ile833=) c.2484T>A (p.Ile828=) c.2091T>A (p.Ile697=) c.2553T>A (p.Ile851=) c.2490T>A (p.Ile830=) c.2487T>A (p.Ile829=) c.2445T>A (p.Ile815=) c.1518T>A (p.Ile506=) | |
20 | g.63406762A>C | CA409636802 | KCNQ2 | c.2555T>G (p.Ile852Ser) c.2501T>G (p.Ile834Ser) c.1898T>G (p.Ile633Ser) c.2408T>G (p.Ile803Ser) c.2069T>G (p.Ile690Ser) c.2417T>G (p.Ile806Ser) c.2241+284T>G (n.2241+284T>G) c.2205+284T>G (n.2205+284T>G) c.2447T>G (p.Ile816Ser) c.2133+284T>G (n.2133+284T>G) c.1680-5919T>G (n.1680-5919T>G) c.2543T>G (p.Ile848Ser) c.2609T>G (p.Ile870Ser) c.2606T>G (p.Ile869Ser) c.2579T>G (p.Ile860Ser) c.2525T>G (p.Ile842Ser) c.2498T>G (p.Ile833Ser) c.2483T>G (p.Ile828Ser) c.2090T>G (p.Ile697Ser) c.2552T>G (p.Ile851Ser) c.2489T>G (p.Ile830Ser) c.2486T>G (p.Ile829Ser) c.2444T>G (p.Ile815Ser) c.1517T>G (p.Ile506Ser) | |
20 | g.63406762A>G | CA409636804 | KCNQ2 | c.2555T>C (p.Ile852Thr) c.2501T>C (p.Ile834Thr) c.1898T>C (p.Ile633Thr) c.2408T>C (p.Ile803Thr) c.2069T>C (p.Ile690Thr) c.2417T>C (p.Ile806Thr) c.2241+284T>C (n.2241+284T>C) c.2205+284T>C (n.2205+284T>C) c.2447T>C (p.Ile816Thr) c.2133+284T>C (n.2133+284T>C) c.1680-5919T>C (n.1680-5919T>C) c.2543T>C (p.Ile848Thr) c.2609T>C (p.Ile870Thr) c.2606T>C (p.Ile869Thr) c.2579T>C (p.Ile860Thr) c.2525T>C (p.Ile842Thr) c.2498T>C (p.Ile833Thr) c.2483T>C (p.Ile828Thr) c.2090T>C (p.Ile697Thr) c.2552T>C (p.Ile851Thr) c.2489T>C (p.Ile830Thr) c.2486T>C (p.Ile829Thr) c.2444T>C (p.Ile815Thr) c.1517T>C (p.Ile506Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406762A>T | CA409636805 | KCNQ2 | c.2555T>A (p.Ile852Asn) c.2501T>A (p.Ile834Asn) c.1898T>A (p.Ile633Asn) c.2408T>A (p.Ile803Asn) c.2069T>A (p.Ile690Asn) c.2417T>A (p.Ile806Asn) c.2241+284T>A (n.2241+284T>A) c.2205+284T>A (n.2205+284T>A) c.2447T>A (p.Ile816Asn) c.2133+284T>A (n.2133+284T>A) c.1680-5919T>A (n.1680-5919T>A) c.2543T>A (p.Ile848Asn) c.2609T>A (p.Ile870Asn) c.2606T>A (p.Ile869Asn) c.2579T>A (p.Ile860Asn) c.2525T>A (p.Ile842Asn) c.2498T>A (p.Ile833Asn) c.2483T>A (p.Ile828Asn) c.2090T>A (p.Ile697Asn) c.2552T>A (p.Ile851Asn) c.2489T>A (p.Ile830Asn) c.2486T>A (p.Ile829Asn) c.2444T>A (p.Ile815Asn) c.1517T>A (p.Ile506Asn) | |
20 | g.63406763T>A | CA409636808 | KCNQ2 | c.2554A>T (p.Ile852Phe) c.2500A>T (p.Ile834Phe) c.1897A>T (p.Ile633Phe) c.2407A>T (p.Ile803Phe) c.2068A>T (p.Ile690Phe) c.2416A>T (p.Ile806Phe) c.2241+283A>T (n.2241+283A>T) c.2205+283A>T (n.2205+283A>T) c.2446A>T (p.Ile816Phe) c.2133+283A>T (n.2133+283A>T) c.1680-5920A>T (n.1680-5920A>T) c.2542A>T (p.Ile848Phe) c.2608A>T (p.Ile870Phe) c.2605A>T (p.Ile869Phe) c.2578A>T (p.Ile860Phe) c.2524A>T (p.Ile842Phe) c.2497A>T (p.Ile833Phe) c.2482A>T (p.Ile828Phe) c.2089A>T (p.Ile697Phe) c.2551A>T (p.Ile851Phe) c.2488A>T (p.Ile830Phe) c.2485A>T (p.Ile829Phe) c.2443A>T (p.Ile815Phe) c.1516A>T (p.Ile506Phe) | |
20 | g.63406763T>C | CA409636810 | KCNQ2 | c.2554A>G (p.Ile852Val) c.2500A>G (p.Ile834Val) c.1897A>G (p.Ile633Val) c.2407A>G (p.Ile803Val) c.2068A>G (p.Ile690Val) c.2416A>G (p.Ile806Val) c.2241+283A>G (n.2241+283A>G) c.2205+283A>G (n.2205+283A>G) c.2446A>G (p.Ile816Val) c.2133+283A>G (n.2133+283A>G) c.1680-5920A>G (n.1680-5920A>G) c.2542A>G (p.Ile848Val) c.2608A>G (p.Ile870Val) c.2605A>G (p.Ile869Val) c.2578A>G (p.Ile860Val) c.2524A>G (p.Ile842Val) c.2497A>G (p.Ile833Val) c.2482A>G (p.Ile828Val) c.2089A>G (p.Ile697Val) c.2551A>G (p.Ile851Val) c.2488A>G (p.Ile830Val) c.2485A>G (p.Ile829Val) c.2443A>G (p.Ile815Val) c.1516A>G (p.Ile506Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63406763T>G | CA409636812 | KCNQ2 | c.2554A>C (p.Ile852Leu) c.2500A>C (p.Ile834Leu) c.1897A>C (p.Ile633Leu) c.2407A>C (p.Ile803Leu) c.2068A>C (p.Ile690Leu) c.2416A>C (p.Ile806Leu) c.2241+283A>C (n.2241+283A>C) c.2205+283A>C (n.2205+283A>C) c.2446A>C (p.Ile816Leu) c.2133+283A>C (n.2133+283A>C) c.1680-5920A>C (n.1680-5920A>C) c.2542A>C (p.Ile848Leu) c.2608A>C (p.Ile870Leu) c.2605A>C (p.Ile869Leu) c.2578A>C (p.Ile860Leu) c.2524A>C (p.Ile842Leu) c.2497A>C (p.Ile833Leu) c.2482A>C (p.Ile828Leu) c.2089A>C (p.Ile697Leu) c.2551A>C (p.Ile851Leu) c.2488A>C (p.Ile830Leu) c.2485A>C (p.Ile829Leu) c.2443A>C (p.Ile815Leu) c.1516A>C (p.Ile506Leu) | |
20 | g.63406763T= | CA2374774234 | KCNQ2 | c.2554A= (p.Ile852=) c.2500A= (p.Ile834=) c.1897A= (p.Ile633=) c.2407A= (p.Ile803=) c.2068A= (p.Ile690=) c.2416A= (p.Ile806=) c.2241+283A= (n.2241+283A=) c.2205+283A= (n.2205+283A=) c.2446A= (p.Ile816=) c.2133+283A= (n.2133+283A=) c.1680-5920A= (n.1680-5920A=) c.2542A= (p.Ile848=) c.2608A= (p.Ile870=) c.2605A= (p.Ile869=) c.2578A= (p.Ile860=) c.2524A= (p.Ile842=) c.2497A= (p.Ile833=) c.2482A= (p.Ile828=) c.2089A= (p.Ile697=) c.2551A= (p.Ile851=) c.2488A= (p.Ile830=) c.2485A= (p.Ile829=) c.2443A= (p.Ile815=) c.1516A= (p.Ile506=) | |
20 | g.63406764del | CA2653804728 | KCNQ2 | c.2553del (p.Tyr851Ter) c.2499del (p.Tyr833Ter) c.1896del (p.Tyr632Ter) c.2406del (p.Tyr802Ter) c.2067del (p.Tyr689Ter) c.2415del (p.Tyr805Ter) c.2241+282del (n.2241+282del) c.2205+282del (n.2205+282del) c.2445del (p.Tyr815Ter) c.2133+282del (n.2133+282del) c.1680-5921del (n.1680-5921del) c.2541del (p.Tyr847Ter) c.2607del (p.Tyr869Ter) c.2604del (p.Tyr868Ter) c.2577del (p.Tyr859Ter) c.2523del (p.Tyr841Ter) c.2496del (p.Tyr832Ter) c.2481del (p.Tyr827Ter) c.2088del (p.Tyr696Ter) c.2550del (p.Tyr850Ter) c.2487del (p.Tyr829Ter) c.2484del (p.Tyr828Ter) c.2442del (p.Tyr814Ter) c.1515del (p.Tyr505Ter) | gnomAD v4 |
20 | g.63406764G>A | CA511339249 | KCNQ2 | c.2553C>T (p.Tyr851=) c.2499C>T (p.Tyr833=) c.1896C>T (p.Tyr632=) c.2406C>T (p.Tyr802=) c.2067C>T (p.Tyr689=) c.2415C>T (p.Tyr805=) c.2241+282C>T (n.2241+282C>T) c.2205+282C>T (n.2205+282C>T) c.2445C>T (p.Tyr815=) c.2133+282C>T (n.2133+282C>T) c.1680-5921C>T (n.1680-5921C>T) c.2541C>T (p.Tyr847=) c.2607C>T (p.Tyr869=) c.2604C>T (p.Tyr868=) c.2577C>T (p.Tyr859=) c.2523C>T (p.Tyr841=) c.2496C>T (p.Tyr832=) c.2481C>T (p.Tyr827=) c.2088C>T (p.Tyr696=) c.2550C>T (p.Tyr850=) c.2487C>T (p.Tyr829=) c.2484C>T (p.Tyr828=) c.2442C>T (p.Tyr814=) c.1515C>T (p.Tyr505=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406764G>C | CA409636815 | KCNQ2 | c.2553C>G (p.Tyr851Ter) c.2499C>G (p.Tyr833Ter) c.1896C>G (p.Tyr632Ter) c.2406C>G (p.Tyr802Ter) c.2067C>G (p.Tyr689Ter) c.2415C>G (p.Tyr805Ter) c.2241+282C>G (n.2241+282C>G) c.2205+282C>G (n.2205+282C>G) c.2445C>G (p.Tyr815Ter) c.2133+282C>G (n.2133+282C>G) c.1680-5921C>G (n.1680-5921C>G) c.2541C>G (p.Tyr847Ter) c.2607C>G (p.Tyr869Ter) c.2604C>G (p.Tyr868Ter) c.2577C>G (p.Tyr859Ter) c.2523C>G (p.Tyr841Ter) c.2496C>G (p.Tyr832Ter) c.2481C>G (p.Tyr827Ter) c.2088C>G (p.Tyr696Ter) c.2550C>G (p.Tyr850Ter) c.2487C>G (p.Tyr829Ter) c.2484C>G (p.Tyr828Ter) c.2442C>G (p.Tyr814Ter) c.1515C>G (p.Tyr505Ter) | |
20 | g.63406764G= | CA2374774235 | KCNQ2 | c.2553C= (p.Tyr851=) c.2499C= (p.Tyr833=) c.1896C= (p.Tyr632=) c.2406C= (p.Tyr802=) c.2067C= (p.Tyr689=) c.2415C= (p.Tyr805=) c.2241+282C= (n.2241+282C=) c.2205+282C= (n.2205+282C=) c.2445C= (p.Tyr815=) c.2133+282C= (n.2133+282C=) c.1680-5921C= (n.1680-5921C=) c.2541C= (p.Tyr847=) c.2607C= (p.Tyr869=) c.2604C= (p.Tyr868=) c.2577C= (p.Tyr859=) c.2523C= (p.Tyr841=) c.2496C= (p.Tyr832=) c.2481C= (p.Tyr827=) c.2088C= (p.Tyr696=) c.2550C= (p.Tyr850=) c.2487C= (p.Tyr829=) c.2484C= (p.Tyr828=) c.2442C= (p.Tyr814=) c.1515C= (p.Tyr505=) | |
20 | g.63406764G>T | CA409636816 | KCNQ2 | c.2553C>A (p.Tyr851Ter) c.2499C>A (p.Tyr833Ter) c.1896C>A (p.Tyr632Ter) c.2406C>A (p.Tyr802Ter) c.2067C>A (p.Tyr689Ter) c.2415C>A (p.Tyr805Ter) c.2241+282C>A (n.2241+282C>A) c.2205+282C>A (n.2205+282C>A) c.2445C>A (p.Tyr815Ter) c.2133+282C>A (n.2133+282C>A) c.1680-5921C>A (n.1680-5921C>A) c.2541C>A (p.Tyr847Ter) c.2607C>A (p.Tyr869Ter) c.2604C>A (p.Tyr868Ter) c.2577C>A (p.Tyr859Ter) c.2523C>A (p.Tyr841Ter) c.2496C>A (p.Tyr832Ter) c.2481C>A (p.Tyr827Ter) c.2088C>A (p.Tyr696Ter) c.2550C>A (p.Tyr850Ter) c.2487C>A (p.Tyr829Ter) c.2484C>A (p.Tyr828Ter) c.2442C>A (p.Tyr814Ter) c.1515C>A (p.Tyr505Ter) | |
20 | g.63406765T>A | CA409636822 | KCNQ2 | c.2552A>T (p.Tyr851Phe) c.2498A>T (p.Tyr833Phe) c.1895A>T (p.Tyr632Phe) c.2405A>T (p.Tyr802Phe) c.2066A>T (p.Tyr689Phe) c.2414A>T (p.Tyr805Phe) c.2241+281A>T (n.2241+281A>T) c.2205+281A>T (n.2205+281A>T) c.2444A>T (p.Tyr815Phe) c.2133+281A>T (n.2133+281A>T) c.1680-5922A>T (n.1680-5922A>T) c.2540A>T (p.Tyr847Phe) c.2606A>T (p.Tyr869Phe) c.2603A>T (p.Tyr868Phe) c.2576A>T (p.Tyr859Phe) c.2522A>T (p.Tyr841Phe) c.2495A>T (p.Tyr832Phe) c.2480A>T (p.Tyr827Phe) c.2087A>T (p.Tyr696Phe) c.2549A>T (p.Tyr850Phe) c.2486A>T (p.Tyr829Phe) c.2483A>T (p.Tyr828Phe) c.2441A>T (p.Tyr814Phe) c.1514A>T (p.Tyr505Phe) | |
20 | g.63406765T>C | CA409636820 | KCNQ2 | c.2552A>G (p.Tyr851Cys) c.2498A>G (p.Tyr833Cys) c.1895A>G (p.Tyr632Cys) c.2405A>G (p.Tyr802Cys) c.2066A>G (p.Tyr689Cys) c.2414A>G (p.Tyr805Cys) c.2241+281A>G (n.2241+281A>G) c.2205+281A>G (n.2205+281A>G) c.2444A>G (p.Tyr815Cys) c.2133+281A>G (n.2133+281A>G) c.1680-5922A>G (n.1680-5922A>G) c.2540A>G (p.Tyr847Cys) c.2606A>G (p.Tyr869Cys) c.2603A>G (p.Tyr868Cys) c.2576A>G (p.Tyr859Cys) c.2522A>G (p.Tyr841Cys) c.2495A>G (p.Tyr832Cys) c.2480A>G (p.Tyr827Cys) c.2087A>G (p.Tyr696Cys) c.2549A>G (p.Tyr850Cys) c.2486A>G (p.Tyr829Cys) c.2483A>G (p.Tyr828Cys) c.2441A>G (p.Tyr814Cys) c.1514A>G (p.Tyr505Cys) | |
20 | g.63406765T>G | CA409636818 | KCNQ2 | c.2552A>C (p.Tyr851Ser) c.2498A>C (p.Tyr833Ser) c.1895A>C (p.Tyr632Ser) c.2405A>C (p.Tyr802Ser) c.2066A>C (p.Tyr689Ser) c.2414A>C (p.Tyr805Ser) c.2241+281A>C (n.2241+281A>C) c.2205+281A>C (n.2205+281A>C) c.2444A>C (p.Tyr815Ser) c.2133+281A>C (n.2133+281A>C) c.1680-5922A>C (n.1680-5922A>C) c.2540A>C (p.Tyr847Ser) c.2606A>C (p.Tyr869Ser) c.2603A>C (p.Tyr868Ser) c.2576A>C (p.Tyr859Ser) c.2522A>C (p.Tyr841Ser) c.2495A>C (p.Tyr832Ser) c.2480A>C (p.Tyr827Ser) c.2087A>C (p.Tyr696Ser) c.2549A>C (p.Tyr850Ser) c.2486A>C (p.Tyr829Ser) c.2483A>C (p.Tyr828Ser) c.2441A>C (p.Tyr814Ser) c.1514A>C (p.Tyr505Ser) | |
20 | g.63406766A= | CA2374774236 | KCNQ2 | c.2551T= (p.Tyr851=) c.2497T= (p.Tyr833=) c.1894T= (p.Tyr632=) c.2404T= (p.Tyr802=) c.2065T= (p.Tyr689=) c.2413T= (p.Tyr805=) c.2241+280T= (n.2241+280T=) c.2205+280T= (n.2205+280T=) c.2443T= (p.Tyr815=) c.2133+280T= (n.2133+280T=) c.1680-5923T= (n.1680-5923T=) c.2539T= (p.Tyr847=) c.2605T= (p.Tyr869=) c.2602T= (p.Tyr868=) c.2575T= (p.Tyr859=) c.2521T= (p.Tyr841=) c.2494T= (p.Tyr832=) c.2479T= (p.Tyr827=) c.2086T= (p.Tyr696=) c.2548T= (p.Tyr850=) c.2485T= (p.Tyr829=) c.2482T= (p.Tyr828=) c.2440T= (p.Tyr814=) c.1513T= (p.Tyr505=) | |
20 | g.63406766A>C | CA409636824 | KCNQ2 | c.2551T>G (p.Tyr851Asp) c.2497T>G (p.Tyr833Asp) c.1894T>G (p.Tyr632Asp) c.2404T>G (p.Tyr802Asp) c.2065T>G (p.Tyr689Asp) c.2413T>G (p.Tyr805Asp) c.2241+280T>G (n.2241+280T>G) c.2205+280T>G (n.2205+280T>G) c.2443T>G (p.Tyr815Asp) c.2133+280T>G (n.2133+280T>G) c.1680-5923T>G (n.1680-5923T>G) c.2539T>G (p.Tyr847Asp) c.2605T>G (p.Tyr869Asp) c.2602T>G (p.Tyr868Asp) c.2575T>G (p.Tyr859Asp) c.2521T>G (p.Tyr841Asp) c.2494T>G (p.Tyr832Asp) c.2479T>G (p.Tyr827Asp) c.2086T>G (p.Tyr696Asp) c.2548T>G (p.Tyr850Asp) c.2485T>G (p.Tyr829Asp) c.2482T>G (p.Tyr828Asp) c.2440T>G (p.Tyr814Asp) c.1513T>G (p.Tyr505Asp) | |
20 | g.63406766A>G | CA409636826 | KCNQ2 | c.2551T>C (p.Tyr851His) c.2497T>C (p.Tyr833His) c.1894T>C (p.Tyr632His) c.2404T>C (p.Tyr802His) c.2065T>C (p.Tyr689His) c.2413T>C (p.Tyr805His) c.2241+280T>C (n.2241+280T>C) c.2205+280T>C (n.2205+280T>C) c.2443T>C (p.Tyr815His) c.2133+280T>C (n.2133+280T>C) c.1680-5923T>C (n.1680-5923T>C) c.2539T>C (p.Tyr847His) c.2605T>C (p.Tyr869His) c.2602T>C (p.Tyr868His) c.2575T>C (p.Tyr859His) c.2521T>C (p.Tyr841His) c.2494T>C (p.Tyr832His) c.2479T>C (p.Tyr827His) c.2086T>C (p.Tyr696His) c.2548T>C (p.Tyr850His) c.2485T>C (p.Tyr829His) c.2482T>C (p.Tyr828His) c.2440T>C (p.Tyr814His) c.1513T>C (p.Tyr505His) | dbSNP gnomAD v4 |
20 | g.63406766A>T | CA409636828 | KCNQ2 | c.2551T>A (p.Tyr851Asn) c.2497T>A (p.Tyr833Asn) c.1894T>A (p.Tyr632Asn) c.2404T>A (p.Tyr802Asn) c.2065T>A (p.Tyr689Asn) c.2413T>A (p.Tyr805Asn) c.2241+280T>A (n.2241+280T>A) c.2205+280T>A (n.2205+280T>A) c.2443T>A (p.Tyr815Asn) c.2133+280T>A (n.2133+280T>A) c.1680-5923T>A (n.1680-5923T>A) c.2539T>A (p.Tyr847Asn) c.2605T>A (p.Tyr869Asn) c.2602T>A (p.Tyr868Asn) c.2575T>A (p.Tyr859Asn) c.2521T>A (p.Tyr841Asn) c.2494T>A (p.Tyr832Asn) c.2479T>A (p.Tyr827Asn) c.2086T>A (p.Tyr696Asn) c.2548T>A (p.Tyr850Asn) c.2485T>A (p.Tyr829Asn) c.2482T>A (p.Tyr828Asn) c.2440T>A (p.Tyr814Asn) c.1513T>A (p.Tyr505Asn) | |
20 | g.63406767G>A | CA511339253 | KCNQ2 | c.2550C>T (p.Pro850=) c.2496C>T (p.Pro832=) c.1893C>T (p.Pro631=) c.2403C>T (p.Pro801=) c.2064C>T (p.Pro688=) c.2412C>T (p.Pro804=) c.2241+279C>T (n.2241+279C>T) c.2205+279C>T (n.2205+279C>T) c.2442C>T (p.Pro814=) c.2133+279C>T (n.2133+279C>T) c.1680-5924C>T (n.1680-5924C>T) c.2538C>T (p.Pro846=) c.2604C>T (p.Pro868=) c.2601C>T (p.Pro867=) c.2574C>T (p.Pro858=) c.2520C>T (p.Pro840=) c.2493C>T (p.Pro831=) c.2478C>T (p.Pro826=) c.2085C>T (p.Pro695=) c.2547C>T (p.Pro849=) c.2484C>T (p.Pro828=) c.2481C>T (p.Pro827=) c.2439C>T (p.Pro813=) c.1512C>T (p.Pro504=) | dbSNP gnomAD v2 |
20 | g.63406767G>C | CA511339254 | KCNQ2 | c.2550C>G (p.Pro850=) c.2496C>G (p.Pro832=) c.1893C>G (p.Pro631=) c.2403C>G (p.Pro801=) c.2064C>G (p.Pro688=) c.2412C>G (p.Pro804=) c.2241+279C>G (n.2241+279C>G) c.2205+279C>G (n.2205+279C>G) c.2442C>G (p.Pro814=) c.2133+279C>G (n.2133+279C>G) c.1680-5924C>G (n.1680-5924C>G) c.2538C>G (p.Pro846=) c.2604C>G (p.Pro868=) c.2601C>G (p.Pro867=) c.2574C>G (p.Pro858=) c.2520C>G (p.Pro840=) c.2493C>G (p.Pro831=) c.2478C>G (p.Pro826=) c.2085C>G (p.Pro695=) c.2547C>G (p.Pro849=) c.2484C>G (p.Pro828=) c.2481C>G (p.Pro827=) c.2439C>G (p.Pro813=) c.1512C>G (p.Pro504=) | COSMIC COSMIC COSMIC |
20 | g.63406767G= | CA2374774237 | KCNQ2 | c.2550C= (p.Pro850=) c.2496C= (p.Pro832=) c.1893C= (p.Pro631=) c.2403C= (p.Pro801=) c.2064C= (p.Pro688=) c.2412C= (p.Pro804=) c.2241+279C= (n.2241+279C=) c.2205+279C= (n.2205+279C=) c.2442C= (p.Pro814=) c.2133+279C= (n.2133+279C=) c.1680-5924C= (n.1680-5924C=) c.2538C= (p.Pro846=) c.2604C= (p.Pro868=) c.2601C= (p.Pro867=) c.2574C= (p.Pro858=) c.2520C= (p.Pro840=) c.2493C= (p.Pro831=) c.2478C= (p.Pro826=) c.2085C= (p.Pro695=) c.2547C= (p.Pro849=) c.2484C= (p.Pro828=) c.2481C= (p.Pro827=) c.2439C= (p.Pro813=) c.1512C= (p.Pro504=) | |
20 | g.63406767G>T | CA511339256 | KCNQ2 | c.2550C>A (p.Pro850=) c.2496C>A (p.Pro832=) c.1893C>A (p.Pro631=) c.2403C>A (p.Pro801=) c.2064C>A (p.Pro688=) c.2412C>A (p.Pro804=) c.2241+279C>A (n.2241+279C>A) c.2205+279C>A (n.2205+279C>A) c.2442C>A (p.Pro814=) c.2133+279C>A (n.2133+279C>A) c.1680-5924C>A (n.1680-5924C>A) c.2538C>A (p.Pro846=) c.2604C>A (p.Pro868=) c.2601C>A (p.Pro867=) c.2574C>A (p.Pro858=) c.2520C>A (p.Pro840=) c.2493C>A (p.Pro831=) c.2478C>A (p.Pro826=) c.2085C>A (p.Pro695=) c.2547C>A (p.Pro849=) c.2484C>A (p.Pro828=) c.2481C>A (p.Pro827=) c.2439C>A (p.Pro813=) c.1512C>A (p.Pro504=) | |
20 | g.63406768G>A | CA409636830 | KCNQ2 | c.2549C>T (p.Pro850Leu) c.2495C>T (p.Pro832Leu) c.1892C>T (p.Pro631Leu) c.2402C>T (p.Pro801Leu) c.2063C>T (p.Pro688Leu) c.2411C>T (p.Pro804Leu) c.2241+278C>T (n.2241+278C>T) c.2205+278C>T (n.2205+278C>T) c.2441C>T (p.Pro814Leu) c.2133+278C>T (n.2133+278C>T) c.1680-5925C>T (n.1680-5925C>T) c.2537C>T (p.Pro846Leu) c.2603C>T (p.Pro868Leu) c.2600C>T (p.Pro867Leu) c.2573C>T (p.Pro858Leu) c.2519C>T (p.Pro840Leu) c.2492C>T (p.Pro831Leu) c.2477C>T (p.Pro826Leu) c.2084C>T (p.Pro695Leu) c.2546C>T (p.Pro849Leu) c.2483C>T (p.Pro828Leu) c.2480C>T (p.Pro827Leu) c.2438C>T (p.Pro813Leu) c.1511C>T (p.Pro504Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406768G>C | CA409636832 | KCNQ2 | c.2549C>G (p.Pro850Arg) c.2495C>G (p.Pro832Arg) c.1892C>G (p.Pro631Arg) c.2402C>G (p.Pro801Arg) c.2063C>G (p.Pro688Arg) c.2411C>G (p.Pro804Arg) c.2241+278C>G (n.2241+278C>G) c.2205+278C>G (n.2205+278C>G) c.2441C>G (p.Pro814Arg) c.2133+278C>G (n.2133+278C>G) c.1680-5925C>G (n.1680-5925C>G) c.2537C>G (p.Pro846Arg) c.2603C>G (p.Pro868Arg) c.2600C>G (p.Pro867Arg) c.2573C>G (p.Pro858Arg) c.2519C>G (p.Pro840Arg) c.2492C>G (p.Pro831Arg) c.2477C>G (p.Pro826Arg) c.2084C>G (p.Pro695Arg) c.2546C>G (p.Pro849Arg) c.2483C>G (p.Pro828Arg) c.2480C>G (p.Pro827Arg) c.2438C>G (p.Pro813Arg) c.1511C>G (p.Pro504Arg) | |
20 | g.63406768G= | CA2374774238 | KCNQ2 | c.2549C= (p.Pro850=) c.2495C= (p.Pro832=) c.1892C= (p.Pro631=) c.2402C= (p.Pro801=) c.2063C= (p.Pro688=) c.2411C= (p.Pro804=) c.2241+278C= (n.2241+278C=) c.2205+278C= (n.2205+278C=) c.2441C= (p.Pro814=) c.2133+278C= (n.2133+278C=) c.1680-5925C= (n.1680-5925C=) c.2537C= (p.Pro846=) c.2603C= (p.Pro868=) c.2600C= (p.Pro867=) c.2573C= (p.Pro858=) c.2519C= (p.Pro840=) c.2492C= (p.Pro831=) c.2477C= (p.Pro826=) c.2084C= (p.Pro695=) c.2546C= (p.Pro849=) c.2483C= (p.Pro828=) c.2480C= (p.Pro827=) c.2438C= (p.Pro813=) c.1511C= (p.Pro504=) | |
20 | g.63406768G>T | CA409636834 | KCNQ2 | c.2549C>A (p.Pro850His) c.2495C>A (p.Pro832His) c.1892C>A (p.Pro631His) c.2402C>A (p.Pro801His) c.2063C>A (p.Pro688His) c.2411C>A (p.Pro804His) c.2241+278C>A (n.2241+278C>A) c.2205+278C>A (n.2205+278C>A) c.2441C>A (p.Pro814His) c.2133+278C>A (n.2133+278C>A) c.1680-5925C>A (n.1680-5925C>A) c.2537C>A (p.Pro846His) c.2603C>A (p.Pro868His) c.2600C>A (p.Pro867His) c.2573C>A (p.Pro858His) c.2519C>A (p.Pro840His) c.2492C>A (p.Pro831His) c.2477C>A (p.Pro826His) c.2084C>A (p.Pro695His) c.2546C>A (p.Pro849His) c.2483C>A (p.Pro828His) c.2480C>A (p.Pro827His) c.2438C>A (p.Pro813His) c.1511C>A (p.Pro504His) | |
20 | g.63406769G>A | CA409636837 | KCNQ2 | c.2548C>T (p.Pro850Ser) c.2494C>T (p.Pro832Ser) c.1891C>T (p.Pro631Ser) c.2401C>T (p.Pro801Ser) c.2062C>T (p.Pro688Ser) c.2410C>T (p.Pro804Ser) c.2241+277C>T (n.2241+277C>T) c.2205+277C>T (n.2205+277C>T) c.2440C>T (p.Pro814Ser) c.2133+277C>T (n.2133+277C>T) c.1680-5926C>T (n.1680-5926C>T) c.2536C>T (p.Pro846Ser) c.2602C>T (p.Pro868Ser) c.2599C>T (p.Pro867Ser) c.2572C>T (p.Pro858Ser) c.2518C>T (p.Pro840Ser) c.2491C>T (p.Pro831Ser) c.2476C>T (p.Pro826Ser) c.2083C>T (p.Pro695Ser) c.2545C>T (p.Pro849Ser) c.2482C>T (p.Pro828Ser) c.2479C>T (p.Pro827Ser) c.2437C>T (p.Pro813Ser) c.1510C>T (p.Pro504Ser) | gnomAD v4 |
20 | g.63406769G>C | CA409636838 | KCNQ2 | c.2548C>G (p.Pro850Ala) c.2494C>G (p.Pro832Ala) c.1891C>G (p.Pro631Ala) c.2401C>G (p.Pro801Ala) c.2062C>G (p.Pro688Ala) c.2410C>G (p.Pro804Ala) c.2241+277C>G (n.2241+277C>G) c.2205+277C>G (n.2205+277C>G) c.2440C>G (p.Pro814Ala) c.2133+277C>G (n.2133+277C>G) c.1680-5926C>G (n.1680-5926C>G) c.2536C>G (p.Pro846Ala) c.2602C>G (p.Pro868Ala) c.2599C>G (p.Pro867Ala) c.2572C>G (p.Pro858Ala) c.2518C>G (p.Pro840Ala) c.2491C>G (p.Pro831Ala) c.2476C>G (p.Pro826Ala) c.2083C>G (p.Pro695Ala) c.2545C>G (p.Pro849Ala) c.2482C>G (p.Pro828Ala) c.2479C>G (p.Pro827Ala) c.2437C>G (p.Pro813Ala) c.1510C>G (p.Pro504Ala) | gnomAD v4 |
20 | g.63406769G>T | CA409636840 | KCNQ2 | c.2548C>A (p.Pro850Thr) c.2494C>A (p.Pro832Thr) c.1891C>A (p.Pro631Thr) c.2401C>A (p.Pro801Thr) c.2062C>A (p.Pro688Thr) c.2410C>A (p.Pro804Thr) c.2241+277C>A (n.2241+277C>A) c.2205+277C>A (n.2205+277C>A) c.2440C>A (p.Pro814Thr) c.2133+277C>A (n.2133+277C>A) c.1680-5926C>A (n.1680-5926C>A) c.2536C>A (p.Pro846Thr) c.2602C>A (p.Pro868Thr) c.2599C>A (p.Pro867Thr) c.2572C>A (p.Pro858Thr) c.2518C>A (p.Pro840Thr) c.2491C>A (p.Pro831Thr) c.2476C>A (p.Pro826Thr) c.2083C>A (p.Pro695Thr) c.2545C>A (p.Pro849Thr) c.2482C>A (p.Pro828Thr) c.2479C>A (p.Pro827Thr) c.2437C>A (p.Pro813Thr) c.1510C>A (p.Pro504Thr) | |
20 | g.63406770C>A | CA409636842 | KCNQ2 | c.2547G>T (p.Arg849Ser) c.2493G>T (p.Arg831Ser) c.1890G>T (p.Arg630Ser) c.2400G>T (p.Arg800Ser) c.2061G>T (p.Arg687Ser) c.2409G>T (p.Arg803Ser) c.2241+276G>T (n.2241+276G>T) c.2205+276G>T (n.2205+276G>T) c.2439G>T (p.Arg813Ser) c.2133+276G>T (n.2133+276G>T) c.1680-5927G>T (n.1680-5927G>T) c.2535G>T (p.Arg845Ser) c.2601G>T (p.Arg867Ser) c.2598G>T (p.Arg866Ser) c.2571G>T (p.Arg857Ser) c.2517G>T (p.Arg839Ser) c.2490G>T (p.Arg830Ser) c.2475G>T (p.Arg825Ser) c.2082G>T (p.Arg694Ser) c.2544G>T (p.Arg848Ser) c.2481G>T (p.Arg827Ser) c.2478G>T (p.Arg826Ser) c.2436G>T (p.Arg812Ser) c.1509G>T (p.Arg503Ser) | gnomAD v4 |
20 | g.63406770C>G | CA409636844 | KCNQ2 | c.2547G>C (p.Arg849Ser) c.2493G>C (p.Arg831Ser) c.1890G>C (p.Arg630Ser) c.2400G>C (p.Arg800Ser) c.2061G>C (p.Arg687Ser) c.2409G>C (p.Arg803Ser) c.2241+276G>C (n.2241+276G>C) c.2205+276G>C (n.2205+276G>C) c.2439G>C (p.Arg813Ser) c.2133+276G>C (n.2133+276G>C) c.1680-5927G>C (n.1680-5927G>C) c.2535G>C (p.Arg845Ser) c.2601G>C (p.Arg867Ser) c.2598G>C (p.Arg866Ser) c.2571G>C (p.Arg857Ser) c.2517G>C (p.Arg839Ser) c.2490G>C (p.Arg830Ser) c.2475G>C (p.Arg825Ser) c.2082G>C (p.Arg694Ser) c.2544G>C (p.Arg848Ser) c.2481G>C (p.Arg827Ser) c.2478G>C (p.Arg826Ser) c.2436G>C (p.Arg812Ser) c.1509G>C (p.Arg503Ser) | |
20 | g.63406770C>T | CA511339261 | KCNQ2 | c.2547G>A (p.Arg849=) c.2493G>A (p.Arg831=) c.1890G>A (p.Arg630=) c.2400G>A (p.Arg800=) c.2061G>A (p.Arg687=) c.2409G>A (p.Arg803=) c.2241+276G>A (n.2241+276G>A) c.2205+276G>A (n.2205+276G>A) c.2439G>A (p.Arg813=) c.2133+276G>A (n.2133+276G>A) c.1680-5927G>A (n.1680-5927G>A) c.2535G>A (p.Arg845=) c.2601G>A (p.Arg867=) c.2598G>A (p.Arg866=) c.2571G>A (p.Arg857=) c.2517G>A (p.Arg839=) c.2490G>A (p.Arg830=) c.2475G>A (p.Arg825=) c.2082G>A (p.Arg694=) c.2544G>A (p.Arg848=) c.2481G>A (p.Arg827=) c.2478G>A (p.Arg826=) c.2436G>A (p.Arg812=) c.1509G>A (p.Arg503=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406771C>A | CA409636847 | KCNQ2 | c.2546G>T (p.Arg849Met) c.2492G>T (p.Arg831Met) c.1889G>T (p.Arg630Met) c.2399G>T (p.Arg800Met) c.2060G>T (p.Arg687Met) c.2408G>T (p.Arg803Met) c.2241+275G>T (n.2241+275G>T) c.2205+275G>T (n.2205+275G>T) c.2438G>T (p.Arg813Met) c.2133+275G>T (n.2133+275G>T) c.1680-5928G>T (n.1680-5928G>T) c.2534G>T (p.Arg845Met) c.2600G>T (p.Arg867Met) c.2597G>T (p.Arg866Met) c.2570G>T (p.Arg857Met) c.2516G>T (p.Arg839Met) c.2489G>T (p.Arg830Met) c.2474G>T (p.Arg825Met) c.2081G>T (p.Arg694Met) c.2543G>T (p.Arg848Met) c.2480G>T (p.Arg827Met) c.2477G>T (p.Arg826Met) c.2435G>T (p.Arg812Met) c.1508G>T (p.Arg503Met) | COSMIC |
20 | g.63406771C>G | CA409636848 | KCNQ2 | c.2546G>C (p.Arg849Thr) c.2492G>C (p.Arg831Thr) c.1889G>C (p.Arg630Thr) c.2399G>C (p.Arg800Thr) c.2060G>C (p.Arg687Thr) c.2408G>C (p.Arg803Thr) c.2241+275G>C (n.2241+275G>C) c.2205+275G>C (n.2205+275G>C) c.2438G>C (p.Arg813Thr) c.2133+275G>C (n.2133+275G>C) c.1680-5928G>C (n.1680-5928G>C) c.2534G>C (p.Arg845Thr) c.2600G>C (p.Arg867Thr) c.2597G>C (p.Arg866Thr) c.2570G>C (p.Arg857Thr) c.2516G>C (p.Arg839Thr) c.2489G>C (p.Arg830Thr) c.2474G>C (p.Arg825Thr) c.2081G>C (p.Arg694Thr) c.2543G>C (p.Arg848Thr) c.2480G>C (p.Arg827Thr) c.2477G>C (p.Arg826Thr) c.2435G>C (p.Arg812Thr) c.1508G>C (p.Arg503Thr) | |
20 | g.63406771C>T | CA409636850 | KCNQ2 | c.2546G>A (p.Arg849Lys) c.2492G>A (p.Arg831Lys) c.1889G>A (p.Arg630Lys) c.2399G>A (p.Arg800Lys) c.2060G>A (p.Arg687Lys) c.2408G>A (p.Arg803Lys) c.2241+275G>A (n.2241+275G>A) c.2205+275G>A (n.2205+275G>A) c.2438G>A (p.Arg813Lys) c.2133+275G>A (n.2133+275G>A) c.1680-5928G>A (n.1680-5928G>A) c.2534G>A (p.Arg845Lys) c.2600G>A (p.Arg867Lys) c.2597G>A (p.Arg866Lys) c.2570G>A (p.Arg857Lys) c.2516G>A (p.Arg839Lys) c.2489G>A (p.Arg830Lys) c.2474G>A (p.Arg825Lys) c.2081G>A (p.Arg694Lys) c.2543G>A (p.Arg848Lys) c.2480G>A (p.Arg827Lys) c.2477G>A (p.Arg826Lys) c.2435G>A (p.Arg812Lys) c.1508G>A (p.Arg503Lys) | |
20 | g.63406772T>A | CA409636853 | KCNQ2 | c.2545A>T (p.Arg849Trp) c.2491A>T (p.Arg831Trp) c.1888A>T (p.Arg630Trp) c.2398A>T (p.Arg800Trp) c.2059A>T (p.Arg687Trp) c.2407A>T (p.Arg803Trp) c.2241+274A>T (n.2241+274A>T) c.2205+274A>T (n.2205+274A>T) c.2437A>T (p.Arg813Trp) c.2133+274A>T (n.2133+274A>T) c.1680-5929A>T (n.1680-5929A>T) c.2533A>T (p.Arg845Trp) c.2599A>T (p.Arg867Trp) c.2596A>T (p.Arg866Trp) c.2569A>T (p.Arg857Trp) c.2515A>T (p.Arg839Trp) c.2488A>T (p.Arg830Trp) c.2473A>T (p.Arg825Trp) c.2080A>T (p.Arg694Trp) c.2542A>T (p.Arg848Trp) c.2479A>T (p.Arg827Trp) c.2476A>T (p.Arg826Trp) c.2434A>T (p.Arg812Trp) c.1507A>T (p.Arg503Trp) | |
20 | g.63406772T>C | CA409636854 | KCNQ2 | c.2545A>G (p.Arg849Gly) c.2491A>G (p.Arg831Gly) c.1888A>G (p.Arg630Gly) c.2398A>G (p.Arg800Gly) c.2059A>G (p.Arg687Gly) c.2407A>G (p.Arg803Gly) c.2241+274A>G (n.2241+274A>G) c.2205+274A>G (n.2205+274A>G) c.2437A>G (p.Arg813Gly) c.2133+274A>G (n.2133+274A>G) c.1680-5929A>G (n.1680-5929A>G) c.2533A>G (p.Arg845Gly) c.2599A>G (p.Arg867Gly) c.2596A>G (p.Arg866Gly) c.2569A>G (p.Arg857Gly) c.2515A>G (p.Arg839Gly) c.2488A>G (p.Arg830Gly) c.2473A>G (p.Arg825Gly) c.2080A>G (p.Arg694Gly) c.2542A>G (p.Arg848Gly) c.2479A>G (p.Arg827Gly) c.2476A>G (p.Arg826Gly) c.2434A>G (p.Arg812Gly) c.1507A>G (p.Arg503Gly) | dbSNP gnomAD v4 |
20 | g.63406772T>G | CA511339264 | KCNQ2 | c.2545A>C (p.Arg849=) c.2491A>C (p.Arg831=) c.1888A>C (p.Arg630=) c.2398A>C (p.Arg800=) c.2059A>C (p.Arg687=) c.2407A>C (p.Arg803=) c.2241+274A>C (n.2241+274A>C) c.2205+274A>C (n.2205+274A>C) c.2437A>C (p.Arg813=) c.2133+274A>C (n.2133+274A>C) c.1680-5929A>C (n.1680-5929A>C) c.2533A>C (p.Arg845=) c.2599A>C (p.Arg867=) c.2596A>C (p.Arg866=) c.2569A>C (p.Arg857=) c.2515A>C (p.Arg839=) c.2488A>C (p.Arg830=) c.2473A>C (p.Arg825=) c.2080A>C (p.Arg694=) c.2542A>C (p.Arg848=) c.2479A>C (p.Arg827=) c.2476A>C (p.Arg826=) c.2434A>C (p.Arg812=) c.1507A>C (p.Arg503=) | |
20 | g.63406772T= | CA2374774239 | KCNQ2 | c.2545A= (p.Arg849=) c.2491A= (p.Arg831=) c.1888A= (p.Arg630=) c.2398A= (p.Arg800=) c.2059A= (p.Arg687=) c.2407A= (p.Arg803=) c.2241+274A= (n.2241+274A=) c.2205+274A= (n.2205+274A=) c.2437A= (p.Arg813=) c.2133+274A= (n.2133+274A=) c.1680-5929A= (n.1680-5929A=) c.2533A= (p.Arg845=) c.2599A= (p.Arg867=) c.2596A= (p.Arg866=) c.2569A= (p.Arg857=) c.2515A= (p.Arg839=) c.2488A= (p.Arg830=) c.2473A= (p.Arg825=) c.2080A= (p.Arg694=) c.2542A= (p.Arg848=) c.2479A= (p.Arg827=) c.2476A= (p.Arg826=) c.2434A= (p.Arg812=) c.1507A= (p.Arg503=) | |
20 | g.63406773G>A | CA511339266 | KCNQ2 | c.2544C>T (p.Val848=) c.2490C>T (p.Val830=) c.1887C>T (p.Val629=) c.2397C>T (p.Val799=) c.2058C>T (p.Val686=) c.2406C>T (p.Val802=) c.2241+273C>T (n.2241+273C>T) c.2205+273C>T (n.2205+273C>T) c.2436C>T (p.Val812=) c.2133+273C>T (n.2133+273C>T) c.1680-5930C>T (n.1680-5930C>T) c.2532C>T (p.Val844=) c.2598C>T (p.Val866=) c.2595C>T (p.Val865=) c.2568C>T (p.Val856=) c.2514C>T (p.Val838=) c.2487C>T (p.Val829=) c.2472C>T (p.Val824=) c.2079C>T (p.Val693=) c.2541C>T (p.Val847=) c.2478C>T (p.Val826=) c.2475C>T (p.Val825=) c.2433C>T (p.Val811=) c.1506C>T (p.Val502=) | |
20 | g.63406773G>C | CA9958068 | KCNQ2 | c.2544C>G (p.Val848=) c.2490C>G (p.Val830=) c.1887C>G (p.Val629=) c.2397C>G (p.Val799=) c.2058C>G (p.Val686=) c.2406C>G (p.Val802=) c.2241+273C>G (n.2241+273C>G) c.2205+273C>G (n.2205+273C>G) c.2436C>G (p.Val812=) c.2133+273C>G (n.2133+273C>G) c.1680-5930C>G (n.1680-5930C>G) c.2532C>G (p.Val844=) c.2598C>G (p.Val866=) c.2595C>G (p.Val865=) c.2568C>G (p.Val856=) c.2514C>G (p.Val838=) c.2487C>G (p.Val829=) c.2472C>G (p.Val824=) c.2079C>G (p.Val693=) c.2541C>G (p.Val847=) c.2478C>G (p.Val826=) c.2475C>G (p.Val825=) c.2433C>G (p.Val811=) c.1506C>G (p.Val502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406773G= | CA2374774240 | KCNQ2 | c.2544C= (p.Val848=) c.2490C= (p.Val830=) c.1887C= (p.Val629=) c.2397C= (p.Val799=) c.2058C= (p.Val686=) c.2406C= (p.Val802=) c.2241+273C= (n.2241+273C=) c.2205+273C= (n.2205+273C=) c.2436C= (p.Val812=) c.2133+273C= (n.2133+273C=) c.1680-5930C= (n.1680-5930C=) c.2532C= (p.Val844=) c.2598C= (p.Val866=) c.2595C= (p.Val865=) c.2568C= (p.Val856=) c.2514C= (p.Val838=) c.2487C= (p.Val829=) c.2472C= (p.Val824=) c.2079C= (p.Val693=) c.2541C= (p.Val847=) c.2478C= (p.Val826=) c.2475C= (p.Val825=) c.2433C= (p.Val811=) c.1506C= (p.Val502=) | |
20 | g.63406773G>T | CA511339267 | KCNQ2 | c.2544C>A (p.Val848=) c.2490C>A (p.Val830=) c.1887C>A (p.Val629=) c.2397C>A (p.Val799=) c.2058C>A (p.Val686=) c.2406C>A (p.Val802=) c.2241+273C>A (n.2241+273C>A) c.2205+273C>A (n.2205+273C>A) c.2436C>A (p.Val812=) c.2133+273C>A (n.2133+273C>A) c.1680-5930C>A (n.1680-5930C>A) c.2532C>A (p.Val844=) c.2598C>A (p.Val866=) c.2595C>A (p.Val865=) c.2568C>A (p.Val856=) c.2514C>A (p.Val838=) c.2487C>A (p.Val829=) c.2472C>A (p.Val824=) c.2079C>A (p.Val693=) c.2541C>A (p.Val847=) c.2478C>A (p.Val826=) c.2475C>A (p.Val825=) c.2433C>A (p.Val811=) c.1506C>A (p.Val502=) | |
20 | g.63406774A>C | CA409636857 | KCNQ2 | c.2543T>G (p.Val848Gly) c.2489T>G (p.Val830Gly) c.1886T>G (p.Val629Gly) c.2396T>G (p.Val799Gly) c.2057T>G (p.Val686Gly) c.2405T>G (p.Val802Gly) c.2241+272T>G (n.2241+272T>G) c.2205+272T>G (n.2205+272T>G) c.2435T>G (p.Val812Gly) c.2133+272T>G (n.2133+272T>G) c.1680-5931T>G (n.1680-5931T>G) c.2531T>G (p.Val844Gly) c.2597T>G (p.Val866Gly) c.2594T>G (p.Val865Gly) c.2567T>G (p.Val856Gly) c.2513T>G (p.Val838Gly) c.2486T>G (p.Val829Gly) c.2471T>G (p.Val824Gly) c.2078T>G (p.Val693Gly) c.2540T>G (p.Val847Gly) c.2477T>G (p.Val826Gly) c.2474T>G (p.Val825Gly) c.2432T>G (p.Val811Gly) c.1505T>G (p.Val502Gly) | |
20 | g.63406774A>G | CA409636859 | KCNQ2 | c.2543T>C (p.Val848Ala) c.2489T>C (p.Val830Ala) c.1886T>C (p.Val629Ala) c.2396T>C (p.Val799Ala) c.2057T>C (p.Val686Ala) c.2405T>C (p.Val802Ala) c.2241+272T>C (n.2241+272T>C) c.2205+272T>C (n.2205+272T>C) c.2435T>C (p.Val812Ala) c.2133+272T>C (n.2133+272T>C) c.1680-5931T>C (n.1680-5931T>C) c.2531T>C (p.Val844Ala) c.2597T>C (p.Val866Ala) c.2594T>C (p.Val865Ala) c.2567T>C (p.Val856Ala) c.2513T>C (p.Val838Ala) c.2486T>C (p.Val829Ala) c.2471T>C (p.Val824Ala) c.2078T>C (p.Val693Ala) c.2540T>C (p.Val847Ala) c.2477T>C (p.Val826Ala) c.2474T>C (p.Val825Ala) c.2432T>C (p.Val811Ala) c.1505T>C (p.Val502Ala) | |
20 | g.63406774A>T | CA409636861 | KCNQ2 | c.2543T>A (p.Val848Asp) c.2489T>A (p.Val830Asp) c.1886T>A (p.Val629Asp) c.2396T>A (p.Val799Asp) c.2057T>A (p.Val686Asp) c.2405T>A (p.Val802Asp) c.2241+272T>A (n.2241+272T>A) c.2205+272T>A (n.2205+272T>A) c.2435T>A (p.Val812Asp) c.2133+272T>A (n.2133+272T>A) c.1680-5931T>A (n.1680-5931T>A) c.2531T>A (p.Val844Asp) c.2597T>A (p.Val866Asp) c.2594T>A (p.Val865Asp) c.2567T>A (p.Val856Asp) c.2513T>A (p.Val838Asp) c.2486T>A (p.Val829Asp) c.2471T>A (p.Val824Asp) c.2078T>A (p.Val693Asp) c.2540T>A (p.Val847Asp) c.2477T>A (p.Val826Asp) c.2474T>A (p.Val825Asp) c.2432T>A (p.Val811Asp) c.1505T>A (p.Val502Asp) | |
20 | g.63406775C>A | CA409636863 | KCNQ2 | c.2542G>T (p.Val848Phe) c.2488G>T (p.Val830Phe) c.1885G>T (p.Val629Phe) c.2395G>T (p.Val799Phe) c.2056G>T (p.Val686Phe) c.2404G>T (p.Val802Phe) c.2241+271G>T (n.2241+271G>T) c.2205+271G>T (n.2205+271G>T) c.2434G>T (p.Val812Phe) c.2133+271G>T (n.2133+271G>T) c.1680-5932G>T (n.1680-5932G>T) c.2530G>T (p.Val844Phe) c.2596G>T (p.Val866Phe) c.2593G>T (p.Val865Phe) c.2566G>T (p.Val856Phe) c.2512G>T (p.Val838Phe) c.2485G>T (p.Val829Phe) c.2470G>T (p.Val824Phe) c.2077G>T (p.Val693Phe) c.2539G>T (p.Val847Phe) c.2476G>T (p.Val826Phe) c.2473G>T (p.Val825Phe) c.2431G>T (p.Val811Phe) c.1504G>T (p.Val502Phe) | |
20 | g.63406775C= | CA2374774242 | KCNQ2 | c.2542G= (p.Val848=) c.2488G= (p.Val830=) c.1885G= (p.Val629=) c.2395G= (p.Val799=) c.2056G= (p.Val686=) c.2404G= (p.Val802=) c.2241+271G= (n.2241+271G=) c.2205+271G= (n.2205+271G=) c.2434G= (p.Val812=) c.2133+271G= (n.2133+271G=) c.1680-5932G= (n.1680-5932G=) c.2530G= (p.Val844=) c.2596G= (p.Val866=) c.2593G= (p.Val865=) c.2566G= (p.Val856=) c.2512G= (p.Val838=) c.2485G= (p.Val829=) c.2470G= (p.Val824=) c.2077G= (p.Val693=) c.2539G= (p.Val847=) c.2476G= (p.Val826=) c.2473G= (p.Val825=) c.2431G= (p.Val811=) c.1504G= (p.Val502=) | |
20 | g.63406775C>G | CA409636865 | KCNQ2 | c.2542G>C (p.Val848Leu) c.2488G>C (p.Val830Leu) c.1885G>C (p.Val629Leu) c.2395G>C (p.Val799Leu) c.2056G>C (p.Val686Leu) c.2404G>C (p.Val802Leu) c.2241+271G>C (n.2241+271G>C) c.2205+271G>C (n.2205+271G>C) c.2434G>C (p.Val812Leu) c.2133+271G>C (n.2133+271G>C) c.1680-5932G>C (n.1680-5932G>C) c.2530G>C (p.Val844Leu) c.2596G>C (p.Val866Leu) c.2593G>C (p.Val865Leu) c.2566G>C (p.Val856Leu) c.2512G>C (p.Val838Leu) c.2485G>C (p.Val829Leu) c.2470G>C (p.Val824Leu) c.2077G>C (p.Val693Leu) c.2539G>C (p.Val847Leu) c.2476G>C (p.Val826Leu) c.2473G>C (p.Val825Leu) c.2431G>C (p.Val811Leu) c.1504G>C (p.Val502Leu) | |
20 | g.63406775C>T | CA409636867 | KCNQ2 | c.2542G>A (p.Val848Ile) c.2488G>A (p.Val830Ile) c.1885G>A (p.Val629Ile) c.2395G>A (p.Val799Ile) c.2056G>A (p.Val686Ile) c.2404G>A (p.Val802Ile) c.2241+271G>A (n.2241+271G>A) c.2205+271G>A (n.2205+271G>A) c.2434G>A (p.Val812Ile) c.2133+271G>A (n.2133+271G>A) c.1680-5932G>A (n.1680-5932G>A) c.2530G>A (p.Val844Ile) c.2596G>A (p.Val866Ile) c.2593G>A (p.Val865Ile) c.2566G>A (p.Val856Ile) c.2512G>A (p.Val838Ile) c.2485G>A (p.Val829Ile) c.2470G>A (p.Val824Ile) c.2077G>A (p.Val693Ile) c.2539G>A (p.Val847Ile) c.2476G>A (p.Val826Ile) c.2473G>A (p.Val825Ile) c.2431G>A (p.Val811Ile) c.1504G>A (p.Val502Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406775_63406777delinsCTT | CA2374774241 | KCNQ2 | c.2540_2542delinsAAG (p.Lys847=) c.2486_2488delinsAAG (p.Lys829=) c.1883_1885delinsAAG (p.Lys628=) c.2393_2395delinsAAG (p.Lys798=) c.2054_2056delinsAAG (p.Lys685=) c.2402_2404delinsAAG (p.Lys801=) c.2241+269_2241+271delinsAAG (n.2241+269_2241+271delinsAAG) c.2205+269_2205+271delinsAAG (n.2205+269_2205+271delinsAAG) c.2432_2434delinsAAG (p.Lys811=) c.2133+269_2133+271delinsAAG (n.2133+269_2133+271delinsAAG) c.1680-5934_1680-5932delinsAAG (n.1680-5934_1680-5932delinsAAG) c.2528_2530delinsAAG (p.Lys843=) c.2594_2596delinsAAG (p.Lys865=) c.2591_2593delinsAAG (p.Lys864=) c.2564_2566delinsAAG (p.Lys855=) c.2510_2512delinsAAG (p.Lys837=) c.2483_2485delinsAAG (p.Lys828=) c.2468_2470delinsAAG (p.Lys823=) c.2075_2077delinsAAG (p.Lys692=) c.2537_2539delinsAAG (p.Lys846=) c.2474_2476delinsAAG (p.Lys825=) c.2471_2473delinsAAG (p.Lys824=) c.2429_2431delinsAAG (p.Lys810=) c.1502_1504delinsAAG (p.Lys501=) | |
20 | g.63406776T>A | CA409636870 | KCNQ2 | c.2541A>T (p.Lys847Asn) c.2487A>T (p.Lys829Asn) c.1884A>T (p.Lys628Asn) c.2394A>T (p.Lys798Asn) c.2055A>T (p.Lys685Asn) c.2403A>T (p.Lys801Asn) c.2241+270A>T (n.2241+270A>T) c.2205+270A>T (n.2205+270A>T) c.2433A>T (p.Lys811Asn) c.2133+270A>T (n.2133+270A>T) c.1680-5933A>T (n.1680-5933A>T) c.2529A>T (p.Lys843Asn) c.2595A>T (p.Lys865Asn) c.2592A>T (p.Lys864Asn) c.2565A>T (p.Lys855Asn) c.2511A>T (p.Lys837Asn) c.2484A>T (p.Lys828Asn) c.2469A>T (p.Lys823Asn) c.2076A>T (p.Lys692Asn) c.2538A>T (p.Lys846Asn) c.2475A>T (p.Lys825Asn) c.2472A>T (p.Lys824Asn) c.2430A>T (p.Lys810Asn) c.1503A>T (p.Lys501Asn) | |
20 | g.63406776T>C | CA511339269 | KCNQ2 | c.2541A>G (p.Lys847=) c.2487A>G (p.Lys829=) c.1884A>G (p.Lys628=) c.2394A>G (p.Lys798=) c.2055A>G (p.Lys685=) c.2403A>G (p.Lys801=) c.2241+270A>G (n.2241+270A>G) c.2205+270A>G (n.2205+270A>G) c.2433A>G (p.Lys811=) c.2133+270A>G (n.2133+270A>G) c.1680-5933A>G (n.1680-5933A>G) c.2529A>G (p.Lys843=) c.2595A>G (p.Lys865=) c.2592A>G (p.Lys864=) c.2565A>G (p.Lys855=) c.2511A>G (p.Lys837=) c.2484A>G (p.Lys828=) c.2469A>G (p.Lys823=) c.2076A>G (p.Lys692=) c.2538A>G (p.Lys846=) c.2475A>G (p.Lys825=) c.2472A>G (p.Lys824=) c.2430A>G (p.Lys810=) c.1503A>G (p.Lys501=) | |
20 | g.63406776T>G | CA409636871 | KCNQ2 | c.2541A>C (p.Lys847Asn) c.2487A>C (p.Lys829Asn) c.1884A>C (p.Lys628Asn) c.2394A>C (p.Lys798Asn) c.2055A>C (p.Lys685Asn) c.2403A>C (p.Lys801Asn) c.2241+270A>C (n.2241+270A>C) c.2205+270A>C (n.2205+270A>C) c.2433A>C (p.Lys811Asn) c.2133+270A>C (n.2133+270A>C) c.1680-5933A>C (n.1680-5933A>C) c.2529A>C (p.Lys843Asn) c.2595A>C (p.Lys865Asn) c.2592A>C (p.Lys864Asn) c.2565A>C (p.Lys855Asn) c.2511A>C (p.Lys837Asn) c.2484A>C (p.Lys828Asn) c.2469A>C (p.Lys823Asn) c.2076A>C (p.Lys692Asn) c.2538A>C (p.Lys846Asn) c.2475A>C (p.Lys825Asn) c.2472A>C (p.Lys824Asn) c.2430A>C (p.Lys810Asn) c.1503A>C (p.Lys501Asn) | |
20 | g.63406778dup | CA658768791 | KCNQ2 | c.2541dup (p.Val848SerfsTer?) c.2487dup (p.Val830SerfsTer?) c.1884dup (p.Val629SerfsTer?) c.2394dup (p.Val799SerfsTer?) c.2055dup (p.Val686SerfsTer?) c.2403dup (p.Val802SerfsTer?) c.2241+270dup (n.2241+270dup) c.2205+270dup (n.2205+270dup) c.2433dup (p.Val812SerfsTer?) c.2133+270dup (n.2133+270dup) c.1680-5933dup (n.1680-5933dup) c.2529dup (p.Val844SerfsTer?) c.2595dup (p.Val866SerfsTer?) c.2592dup (p.Val865SerfsTer?) c.2565dup (p.Val856SerfsTer?) c.2511dup (p.Val838SerfsTer?) c.2484dup (p.Val829SerfsTer?) c.2469dup (p.Val824SerfsTer?) c.2076dup (p.Val693SerfsTer?) c.2538dup (p.Val847SerfsTer?) c.2475dup (p.Val826SerfsTer?) c.2472dup (p.Val825SerfsTer?) c.2430dup (p.Val811SerfsTer?) c.1503dup (p.Val502SerfsTer?) | |
20 | g.63406777_63406778del | CA916083758 | KCNQ2 | c.2540_2541del (p.Lys847SerfsTer?) c.2486_2487del (p.Lys829SerfsTer?) c.1883_1884del (p.Lys628SerfsTer?) c.2393_2394del (p.Lys798SerfsTer?) c.2054_2055del (p.Lys685SerfsTer?) c.2402_2403del (p.Lys801SerfsTer?) c.2241+269_2241+270del (n.2241+269_2241+270del) c.2205+269_2205+270del (n.2205+269_2205+270del) c.2432_2433del (p.Lys811SerfsTer?) c.2133+269_2133+270del (n.2133+269_2133+270del) c.1680-5934_1680-5933del (n.1680-5934_1680-5933del) c.2528_2529del (p.Lys843SerfsTer?) c.2594_2595del (p.Lys865SerfsTer?) c.2591_2592del (p.Lys864SerfsTer?) c.2564_2565del (p.Lys855SerfsTer?) c.2510_2511del (p.Lys837SerfsTer?) c.2483_2484del (p.Lys828SerfsTer?) c.2468_2469del (p.Lys823SerfsTer?) c.2075_2076del (p.Lys692SerfsTer?) c.2537_2538del (p.Lys846SerfsTer?) c.2474_2475del (p.Lys825SerfsTer?) c.2471_2472del (p.Lys824SerfsTer?) c.2429_2430del (p.Lys810SerfsTer?) c.1502_1503del (p.Lys501SerfsTer?) | ClinVar dbSNP |
20 | g.63406777T>A | CA409636873 | KCNQ2 | c.2540A>T (p.Lys847Ile) c.2486A>T (p.Lys829Ile) c.1883A>T (p.Lys628Ile) c.2393A>T (p.Lys798Ile) c.2054A>T (p.Lys685Ile) c.2402A>T (p.Lys801Ile) c.2241+269A>T (n.2241+269A>T) c.2205+269A>T (n.2205+269A>T) c.2432A>T (p.Lys811Ile) c.2133+269A>T (n.2133+269A>T) c.1680-5934A>T (n.1680-5934A>T) c.2528A>T (p.Lys843Ile) c.2594A>T (p.Lys865Ile) c.2591A>T (p.Lys864Ile) c.2564A>T (p.Lys855Ile) c.2510A>T (p.Lys837Ile) c.2483A>T (p.Lys828Ile) c.2468A>T (p.Lys823Ile) c.2075A>T (p.Lys692Ile) c.2537A>T (p.Lys846Ile) c.2474A>T (p.Lys825Ile) c.2471A>T (p.Lys824Ile) c.2429A>T (p.Lys810Ile) c.1502A>T (p.Lys501Ile) | |
20 | g.63406777T>C | CA409636875 | KCNQ2 | c.2540A>G (p.Lys847Arg) c.2486A>G (p.Lys829Arg) c.1883A>G (p.Lys628Arg) c.2393A>G (p.Lys798Arg) c.2054A>G (p.Lys685Arg) c.2402A>G (p.Lys801Arg) c.2241+269A>G (n.2241+269A>G) c.2205+269A>G (n.2205+269A>G) c.2432A>G (p.Lys811Arg) c.2133+269A>G (n.2133+269A>G) c.1680-5934A>G (n.1680-5934A>G) c.2528A>G (p.Lys843Arg) c.2594A>G (p.Lys865Arg) c.2591A>G (p.Lys864Arg) c.2564A>G (p.Lys855Arg) c.2510A>G (p.Lys837Arg) c.2483A>G (p.Lys828Arg) c.2468A>G (p.Lys823Arg) c.2075A>G (p.Lys692Arg) c.2537A>G (p.Lys846Arg) c.2474A>G (p.Lys825Arg) c.2471A>G (p.Lys824Arg) c.2429A>G (p.Lys810Arg) c.1502A>G (p.Lys501Arg) | |
20 | g.63406777T>G | CA409636876 | KCNQ2 | c.2540A>C (p.Lys847Thr) c.2486A>C (p.Lys829Thr) c.1883A>C (p.Lys628Thr) c.2393A>C (p.Lys798Thr) c.2054A>C (p.Lys685Thr) c.2402A>C (p.Lys801Thr) c.2241+269A>C (n.2241+269A>C) c.2205+269A>C (n.2205+269A>C) c.2432A>C (p.Lys811Thr) c.2133+269A>C (n.2133+269A>C) c.1680-5934A>C (n.1680-5934A>C) c.2528A>C (p.Lys843Thr) c.2594A>C (p.Lys865Thr) c.2591A>C (p.Lys864Thr) c.2564A>C (p.Lys855Thr) c.2510A>C (p.Lys837Thr) c.2483A>C (p.Lys828Thr) c.2468A>C (p.Lys823Thr) c.2075A>C (p.Lys692Thr) c.2537A>C (p.Lys846Thr) c.2474A>C (p.Lys825Thr) c.2471A>C (p.Lys824Thr) c.2429A>C (p.Lys810Thr) c.1502A>C (p.Lys501Thr) | gnomAD v4 |
20 | g.63406778T>A | CA409636882 | KCNQ2 | c.2539A>T (p.Lys847Ter) c.2485A>T (p.Lys829Ter) c.1882A>T (p.Lys628Ter) c.2392A>T (p.Lys798Ter) c.2053A>T (p.Lys685Ter) c.2401A>T (p.Lys801Ter) c.2241+268A>T (n.2241+268A>T) c.2205+268A>T (n.2205+268A>T) c.2431A>T (p.Lys811Ter) c.2133+268A>T (n.2133+268A>T) c.1680-5935A>T (n.1680-5935A>T) c.2527A>T (p.Lys843Ter) c.2593A>T (p.Lys865Ter) c.2590A>T (p.Lys864Ter) c.2563A>T (p.Lys855Ter) c.2509A>T (p.Lys837Ter) c.2482A>T (p.Lys828Ter) c.2467A>T (p.Lys823Ter) c.2074A>T (p.Lys692Ter) c.2536A>T (p.Lys846Ter) c.2473A>T (p.Lys825Ter) c.2470A>T (p.Lys824Ter) c.2428A>T (p.Lys810Ter) c.1501A>T (p.Lys501Ter) | |
20 | g.63406778T>C | CA409636880 | KCNQ2 | c.2539A>G (p.Lys847Glu) c.2485A>G (p.Lys829Glu) c.1882A>G (p.Lys628Glu) c.2392A>G (p.Lys798Glu) c.2053A>G (p.Lys685Glu) c.2401A>G (p.Lys801Glu) c.2241+268A>G (n.2241+268A>G) c.2205+268A>G (n.2205+268A>G) c.2431A>G (p.Lys811Glu) c.2133+268A>G (n.2133+268A>G) c.1680-5935A>G (n.1680-5935A>G) c.2527A>G (p.Lys843Glu) c.2593A>G (p.Lys865Glu) c.2590A>G (p.Lys864Glu) c.2563A>G (p.Lys855Glu) c.2509A>G (p.Lys837Glu) c.2482A>G (p.Lys828Glu) c.2467A>G (p.Lys823Glu) c.2074A>G (p.Lys692Glu) c.2536A>G (p.Lys846Glu) c.2473A>G (p.Lys825Glu) c.2470A>G (p.Lys824Glu) c.2428A>G (p.Lys810Glu) c.1501A>G (p.Lys501Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406778T>G | CA409636878 | KCNQ2 | c.2539A>C (p.Lys847Gln) c.2485A>C (p.Lys829Gln) c.1882A>C (p.Lys628Gln) c.2392A>C (p.Lys798Gln) c.2053A>C (p.Lys685Gln) c.2401A>C (p.Lys801Gln) c.2241+268A>C (n.2241+268A>C) c.2205+268A>C (n.2205+268A>C) c.2431A>C (p.Lys811Gln) c.2133+268A>C (n.2133+268A>C) c.1680-5935A>C (n.1680-5935A>C) c.2527A>C (p.Lys843Gln) c.2593A>C (p.Lys865Gln) c.2590A>C (p.Lys864Gln) c.2563A>C (p.Lys855Gln) c.2509A>C (p.Lys837Gln) c.2482A>C (p.Lys828Gln) c.2467A>C (p.Lys823Gln) c.2074A>C (p.Lys692Gln) c.2536A>C (p.Lys846Gln) c.2473A>C (p.Lys825Gln) c.2470A>C (p.Lys824Gln) c.2428A>C (p.Lys810Gln) c.1501A>C (p.Lys501Gln) | |
20 | g.63406778T= | CA2374774243 | KCNQ2 | c.2539A= (p.Lys847=) c.2485A= (p.Lys829=) c.1882A= (p.Lys628=) c.2392A= (p.Lys798=) c.2053A= (p.Lys685=) c.2401A= (p.Lys801=) c.2241+268A= (n.2241+268A=) c.2205+268A= (n.2205+268A=) c.2431A= (p.Lys811=) c.2133+268A= (n.2133+268A=) c.1680-5935A= (n.1680-5935A=) c.2527A= (p.Lys843=) c.2593A= (p.Lys865=) c.2590A= (p.Lys864=) c.2563A= (p.Lys855=) c.2509A= (p.Lys837=) c.2482A= (p.Lys828=) c.2467A= (p.Lys823=) c.2074A= (p.Lys692=) c.2536A= (p.Lys846=) c.2473A= (p.Lys825=) c.2470A= (p.Lys824=) c.2428A= (p.Lys810=) c.1501A= (p.Lys501=) | |
20 | g.63406779G>A | CA511339274 | KCNQ2 | c.2538C>T (p.Ala846=) c.2484C>T (p.Ala828=) c.1881C>T (p.Ala627=) c.2391C>T (p.Ala797=) c.2052C>T (p.Ala684=) c.2400C>T (p.Ala800=) c.2241+267C>T (n.2241+267C>T) c.2205+267C>T (n.2205+267C>T) c.2430C>T (p.Ala810=) c.2133+267C>T (n.2133+267C>T) c.1680-5936C>T (n.1680-5936C>T) c.2526C>T (p.Ala842=) c.2592C>T (p.Ala864=) c.2589C>T (p.Ala863=) c.2562C>T (p.Ala854=) c.2508C>T (p.Ala836=) c.2481C>T (p.Ala827=) c.2466C>T (p.Ala822=) c.2073C>T (p.Ala691=) c.2535C>T (p.Ala845=) c.2472C>T (p.Ala824=) c.2469C>T (p.Ala823=) c.2427C>T (p.Ala809=) c.1500C>T (p.Ala500=) | |
20 | g.63406779G>C | CA317421654 | KCNQ2 | c.2538C>G (p.Ala846=) c.2484C>G (p.Ala828=) c.1881C>G (p.Ala627=) c.2391C>G (p.Ala797=) c.2052C>G (p.Ala684=) c.2400C>G (p.Ala800=) c.2241+267C>G (n.2241+267C>G) c.2205+267C>G (n.2205+267C>G) c.2430C>G (p.Ala810=) c.2133+267C>G (n.2133+267C>G) c.1680-5936C>G (n.1680-5936C>G) c.2526C>G (p.Ala842=) c.2592C>G (p.Ala864=) c.2589C>G (p.Ala863=) c.2562C>G (p.Ala854=) c.2508C>G (p.Ala836=) c.2481C>G (p.Ala827=) c.2466C>G (p.Ala822=) c.2073C>G (p.Ala691=) c.2535C>G (p.Ala845=) c.2472C>G (p.Ala824=) c.2469C>G (p.Ala823=) c.2427C>G (p.Ala809=) c.1500C>G (p.Ala500=) | dbSNP gnomAD v4 |
20 | g.63406779G= | CA2374774244 | KCNQ2 | c.2538C= (p.Ala846=) c.2484C= (p.Ala828=) c.1881C= (p.Ala627=) c.2391C= (p.Ala797=) c.2052C= (p.Ala684=) c.2400C= (p.Ala800=) c.2241+267C= (n.2241+267C=) c.2205+267C= (n.2205+267C=) c.2430C= (p.Ala810=) c.2133+267C= (n.2133+267C=) c.1680-5936C= (n.1680-5936C=) c.2526C= (p.Ala842=) c.2592C= (p.Ala864=) c.2589C= (p.Ala863=) c.2562C= (p.Ala854=) c.2508C= (p.Ala836=) c.2481C= (p.Ala827=) c.2466C= (p.Ala822=) c.2073C= (p.Ala691=) c.2535C= (p.Ala845=) c.2472C= (p.Ala824=) c.2469C= (p.Ala823=) c.2427C= (p.Ala809=) c.1500C= (p.Ala500=) | |
20 | g.63406779G>T | CA511339277 | KCNQ2 | c.2538C>A (p.Ala846=) c.2484C>A (p.Ala828=) c.1881C>A (p.Ala627=) c.2391C>A (p.Ala797=) c.2052C>A (p.Ala684=) c.2400C>A (p.Ala800=) c.2241+267C>A (n.2241+267C>A) c.2205+267C>A (n.2205+267C>A) c.2430C>A (p.Ala810=) c.2133+267C>A (n.2133+267C>A) c.1680-5936C>A (n.1680-5936C>A) c.2526C>A (p.Ala842=) c.2592C>A (p.Ala864=) c.2589C>A (p.Ala863=) c.2562C>A (p.Ala854=) c.2508C>A (p.Ala836=) c.2481C>A (p.Ala827=) c.2466C>A (p.Ala822=) c.2073C>A (p.Ala691=) c.2535C>A (p.Ala845=) c.2472C>A (p.Ala824=) c.2469C>A (p.Ala823=) c.2427C>A (p.Ala809=) c.1500C>A (p.Ala500=) | |
20 | g.63406780G>A | CA409636884 | KCNQ2 | c.2537C>T (p.Ala846Val) c.2483C>T (p.Ala828Val) c.1880C>T (p.Ala627Val) c.2390C>T (p.Ala797Val) c.2051C>T (p.Ala684Val) c.2399C>T (p.Ala800Val) c.2241+266C>T (n.2241+266C>T) c.2205+266C>T (n.2205+266C>T) c.2429C>T (p.Ala810Val) c.2133+266C>T (n.2133+266C>T) c.1680-5937C>T (n.1680-5937C>T) c.2525C>T (p.Ala842Val) c.2591C>T (p.Ala864Val) c.2588C>T (p.Ala863Val) c.2561C>T (p.Ala854Val) c.2507C>T (p.Ala836Val) c.2480C>T (p.Ala827Val) c.2465C>T (p.Ala822Val) c.2072C>T (p.Ala691Val) c.2534C>T (p.Ala845Val) c.2471C>T (p.Ala824Val) c.2468C>T (p.Ala823Val) c.2426C>T (p.Ala809Val) c.1499C>T (p.Ala500Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406780G>C | CA409636887 | KCNQ2 | c.2537C>G (p.Ala846Gly) c.2483C>G (p.Ala828Gly) c.1880C>G (p.Ala627Gly) c.2390C>G (p.Ala797Gly) c.2051C>G (p.Ala684Gly) c.2399C>G (p.Ala800Gly) c.2241+266C>G (n.2241+266C>G) c.2205+266C>G (n.2205+266C>G) c.2429C>G (p.Ala810Gly) c.2133+266C>G (n.2133+266C>G) c.1680-5937C>G (n.1680-5937C>G) c.2525C>G (p.Ala842Gly) c.2591C>G (p.Ala864Gly) c.2588C>G (p.Ala863Gly) c.2561C>G (p.Ala854Gly) c.2507C>G (p.Ala836Gly) c.2480C>G (p.Ala827Gly) c.2465C>G (p.Ala822Gly) c.2072C>G (p.Ala691Gly) c.2534C>G (p.Ala845Gly) c.2471C>G (p.Ala824Gly) c.2468C>G (p.Ala823Gly) c.2426C>G (p.Ala809Gly) c.1499C>G (p.Ala500Gly) | |
20 | g.63406780G= | CA2374774245 | KCNQ2 | c.2537C= (p.Ala846=) c.2483C= (p.Ala828=) c.1880C= (p.Ala627=) c.2390C= (p.Ala797=) c.2051C= (p.Ala684=) c.2399C= (p.Ala800=) c.2241+266C= (n.2241+266C=) c.2205+266C= (n.2205+266C=) c.2429C= (p.Ala810=) c.2133+266C= (n.2133+266C=) c.1680-5937C= (n.1680-5937C=) c.2525C= (p.Ala842=) c.2591C= (p.Ala864=) c.2588C= (p.Ala863=) c.2561C= (p.Ala854=) c.2507C= (p.Ala836=) c.2480C= (p.Ala827=) c.2465C= (p.Ala822=) c.2072C= (p.Ala691=) c.2534C= (p.Ala845=) c.2471C= (p.Ala824=) c.2468C= (p.Ala823=) c.2426C= (p.Ala809=) c.1499C= (p.Ala500=) | |
20 | g.63406780G>T | CA409636886 | KCNQ2 | c.2537C>A (p.Ala846Asp) c.2483C>A (p.Ala828Asp) c.1880C>A (p.Ala627Asp) c.2390C>A (p.Ala797Asp) c.2051C>A (p.Ala684Asp) c.2399C>A (p.Ala800Asp) c.2241+266C>A (n.2241+266C>A) c.2205+266C>A (n.2205+266C>A) c.2429C>A (p.Ala810Asp) c.2133+266C>A (n.2133+266C>A) c.1680-5937C>A (n.1680-5937C>A) c.2525C>A (p.Ala842Asp) c.2591C>A (p.Ala864Asp) c.2588C>A (p.Ala863Asp) c.2561C>A (p.Ala854Asp) c.2507C>A (p.Ala836Asp) c.2480C>A (p.Ala827Asp) c.2465C>A (p.Ala822Asp) c.2072C>A (p.Ala691Asp) c.2534C>A (p.Ala845Asp) c.2471C>A (p.Ala824Asp) c.2468C>A (p.Ala823Asp) c.2426C>A (p.Ala809Asp) c.1499C>A (p.Ala500Asp) | |
20 | g.63406781C>A | CA409636889 | KCNQ2 | c.2536G>T (p.Ala846Ser) c.2482G>T (p.Ala828Ser) c.1879G>T (p.Ala627Ser) c.2389G>T (p.Ala797Ser) c.2050G>T (p.Ala684Ser) c.2398G>T (p.Ala800Ser) c.2241+265G>T (n.2241+265G>T) c.2205+265G>T (n.2205+265G>T) c.2428G>T (p.Ala810Ser) c.2133+265G>T (n.2133+265G>T) c.1680-5938G>T (n.1680-5938G>T) c.2524G>T (p.Ala842Ser) c.2590G>T (p.Ala864Ser) c.2587G>T (p.Ala863Ser) c.2560G>T (p.Ala854Ser) c.2506G>T (p.Ala836Ser) c.2479G>T (p.Ala827Ser) c.2464G>T (p.Ala822Ser) c.2071G>T (p.Ala691Ser) c.2533G>T (p.Ala845Ser) c.2470G>T (p.Ala824Ser) c.2467G>T (p.Ala823Ser) c.2425G>T (p.Ala809Ser) c.1498G>T (p.Ala500Ser) | |
20 | g.63406781C>G | CA409636890 | KCNQ2 | c.2536G>C (p.Ala846Pro) c.2482G>C (p.Ala828Pro) c.1879G>C (p.Ala627Pro) c.2389G>C (p.Ala797Pro) c.2050G>C (p.Ala684Pro) c.2398G>C (p.Ala800Pro) c.2241+265G>C (n.2241+265G>C) c.2205+265G>C (n.2205+265G>C) c.2428G>C (p.Ala810Pro) c.2133+265G>C (n.2133+265G>C) c.1680-5938G>C (n.1680-5938G>C) c.2524G>C (p.Ala842Pro) c.2590G>C (p.Ala864Pro) c.2587G>C (p.Ala863Pro) c.2560G>C (p.Ala854Pro) c.2506G>C (p.Ala836Pro) c.2479G>C (p.Ala827Pro) c.2464G>C (p.Ala822Pro) c.2071G>C (p.Ala691Pro) c.2533G>C (p.Ala845Pro) c.2470G>C (p.Ala824Pro) c.2467G>C (p.Ala823Pro) c.2425G>C (p.Ala809Pro) c.1498G>C (p.Ala500Pro) | |
20 | g.63406781C>T | CA409636892 | KCNQ2 | c.2536G>A (p.Ala846Thr) c.2482G>A (p.Ala828Thr) c.1879G>A (p.Ala627Thr) c.2389G>A (p.Ala797Thr) c.2050G>A (p.Ala684Thr) c.2398G>A (p.Ala800Thr) c.2241+265G>A (n.2241+265G>A) c.2205+265G>A (n.2205+265G>A) c.2428G>A (p.Ala810Thr) c.2133+265G>A (n.2133+265G>A) c.1680-5938G>A (n.1680-5938G>A) c.2524G>A (p.Ala842Thr) c.2590G>A (p.Ala864Thr) c.2587G>A (p.Ala863Thr) c.2560G>A (p.Ala854Thr) c.2506G>A (p.Ala836Thr) c.2479G>A (p.Ala827Thr) c.2464G>A (p.Ala822Thr) c.2071G>A (p.Ala691Thr) c.2533G>A (p.Ala845Thr) c.2470G>A (p.Ala824Thr) c.2467G>A (p.Ala823Thr) c.2425G>A (p.Ala809Thr) c.1498G>A (p.Ala500Thr) | |
20 | g.63406782A= | CA2374774246 | KCNQ2 | c.2535T= (p.Cys845=) c.2481T= (p.Cys827=) c.1878T= (p.Cys626=) c.2388T= (p.Cys796=) c.2049T= (p.Cys683=) c.2397T= (p.Cys799=) c.2241+264T= (n.2241+264T=) c.2205+264T= (n.2205+264T=) c.2427T= (p.Cys809=) c.2133+264T= (n.2133+264T=) c.1680-5939T= (n.1680-5939T=) c.2523T= (p.Cys841=) c.2589T= (p.Cys863=) c.2586T= (p.Cys862=) c.2559T= (p.Cys853=) c.2505T= (p.Cys835=) c.2478T= (p.Cys826=) c.2463T= (p.Cys821=) c.2070T= (p.Cys690=) c.2532T= (p.Cys844=) c.2469T= (p.Cys823=) c.2466T= (p.Cys822=) c.2424T= (p.Cys808=) c.1497T= (p.Cys499=) | |
20 | g.63406782A>C | CA409636895 | KCNQ2 | c.2535T>G (p.Cys845Trp) c.2481T>G (p.Cys827Trp) c.1878T>G (p.Cys626Trp) c.2388T>G (p.Cys796Trp) c.2049T>G (p.Cys683Trp) c.2397T>G (p.Cys799Trp) c.2241+264T>G (n.2241+264T>G) c.2205+264T>G (n.2205+264T>G) c.2427T>G (p.Cys809Trp) c.2133+264T>G (n.2133+264T>G) c.1680-5939T>G (n.1680-5939T>G) c.2523T>G (p.Cys841Trp) c.2589T>G (p.Cys863Trp) c.2586T>G (p.Cys862Trp) c.2559T>G (p.Cys853Trp) c.2505T>G (p.Cys835Trp) c.2478T>G (p.Cys826Trp) c.2463T>G (p.Cys821Trp) c.2070T>G (p.Cys690Trp) c.2532T>G (p.Cys844Trp) c.2469T>G (p.Cys823Trp) c.2466T>G (p.Cys822Trp) c.2424T>G (p.Cys808Trp) c.1497T>G (p.Cys499Trp) | |
20 | g.63406782A>G | CA9958069 | KCNQ2 | c.2535T>C (p.Cys845=) c.2481T>C (p.Cys827=) c.1878T>C (p.Cys626=) c.2388T>C (p.Cys796=) c.2049T>C (p.Cys683=) c.2397T>C (p.Cys799=) c.2241+264T>C (n.2241+264T>C) c.2205+264T>C (n.2205+264T>C) c.2427T>C (p.Cys809=) c.2133+264T>C (n.2133+264T>C) c.1680-5939T>C (n.1680-5939T>C) c.2523T>C (p.Cys841=) c.2589T>C (p.Cys863=) c.2586T>C (p.Cys862=) c.2559T>C (p.Cys853=) c.2505T>C (p.Cys835=) c.2478T>C (p.Cys826=) c.2463T>C (p.Cys821=) c.2070T>C (p.Cys690=) c.2532T>C (p.Cys844=) c.2469T>C (p.Cys823=) c.2466T>C (p.Cys822=) c.2424T>C (p.Cys808=) c.1497T>C (p.Cys499=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406782A>T | CA409636896 | KCNQ2 | c.2535T>A (p.Cys845Ter) c.2481T>A (p.Cys827Ter) c.1878T>A (p.Cys626Ter) c.2388T>A (p.Cys796Ter) c.2049T>A (p.Cys683Ter) c.2397T>A (p.Cys799Ter) c.2241+264T>A (n.2241+264T>A) c.2205+264T>A (n.2205+264T>A) c.2427T>A (p.Cys809Ter) c.2133+264T>A (n.2133+264T>A) c.1680-5939T>A (n.1680-5939T>A) c.2523T>A (p.Cys841Ter) c.2589T>A (p.Cys863Ter) c.2586T>A (p.Cys862Ter) c.2559T>A (p.Cys853Ter) c.2505T>A (p.Cys835Ter) c.2478T>A (p.Cys826Ter) c.2463T>A (p.Cys821Ter) c.2070T>A (p.Cys690Ter) c.2532T>A (p.Cys844Ter) c.2469T>A (p.Cys823Ter) c.2466T>A (p.Cys822Ter) c.2424T>A (p.Cys808Ter) c.1497T>A (p.Cys499Ter) | |
20 | g.63406783C>A | CA409636899 | KCNQ2 | c.2534G>T (p.Cys845Phe) c.2480G>T (p.Cys827Phe) c.1877G>T (p.Cys626Phe) c.2387G>T (p.Cys796Phe) c.2048G>T (p.Cys683Phe) c.2396G>T (p.Cys799Phe) c.2241+263G>T (n.2241+263G>T) c.2205+263G>T (n.2205+263G>T) c.2426G>T (p.Cys809Phe) c.2133+263G>T (n.2133+263G>T) c.1680-5940G>T (n.1680-5940G>T) c.2522G>T (p.Cys841Phe) c.2588G>T (p.Cys863Phe) c.2585G>T (p.Cys862Phe) c.2558G>T (p.Cys853Phe) c.2504G>T (p.Cys835Phe) c.2477G>T (p.Cys826Phe) c.2462G>T (p.Cys821Phe) c.2069G>T (p.Cys690Phe) c.2531G>T (p.Cys844Phe) c.2468G>T (p.Cys823Phe) c.2465G>T (p.Cys822Phe) c.2423G>T (p.Cys808Phe) c.1496G>T (p.Cys499Phe) | ClinVar dbSNP |
20 | g.63406783C>G | CA409636900 | KCNQ2 | c.2534G>C (p.Cys845Ser) c.2480G>C (p.Cys827Ser) c.1877G>C (p.Cys626Ser) c.2387G>C (p.Cys796Ser) c.2048G>C (p.Cys683Ser) c.2396G>C (p.Cys799Ser) c.2241+263G>C (n.2241+263G>C) c.2205+263G>C (n.2205+263G>C) c.2426G>C (p.Cys809Ser) c.2133+263G>C (n.2133+263G>C) c.1680-5940G>C (n.1680-5940G>C) c.2522G>C (p.Cys841Ser) c.2588G>C (p.Cys863Ser) c.2585G>C (p.Cys862Ser) c.2558G>C (p.Cys853Ser) c.2504G>C (p.Cys835Ser) c.2477G>C (p.Cys826Ser) c.2462G>C (p.Cys821Ser) c.2069G>C (p.Cys690Ser) c.2531G>C (p.Cys844Ser) c.2468G>C (p.Cys823Ser) c.2465G>C (p.Cys822Ser) c.2423G>C (p.Cys808Ser) c.1496G>C (p.Cys499Ser) | |
20 | g.63406783C>T | CA409636902 | KCNQ2 | c.2534G>A (p.Cys845Tyr) c.2480G>A (p.Cys827Tyr) c.1877G>A (p.Cys626Tyr) c.2387G>A (p.Cys796Tyr) c.2048G>A (p.Cys683Tyr) c.2396G>A (p.Cys799Tyr) c.2241+263G>A (n.2241+263G>A) c.2205+263G>A (n.2205+263G>A) c.2426G>A (p.Cys809Tyr) c.2133+263G>A (n.2133+263G>A) c.1680-5940G>A (n.1680-5940G>A) c.2522G>A (p.Cys841Tyr) c.2588G>A (p.Cys863Tyr) c.2585G>A (p.Cys862Tyr) c.2558G>A (p.Cys853Tyr) c.2504G>A (p.Cys835Tyr) c.2477G>A (p.Cys826Tyr) c.2462G>A (p.Cys821Tyr) c.2069G>A (p.Cys690Tyr) c.2531G>A (p.Cys844Tyr) c.2468G>A (p.Cys823Tyr) c.2465G>A (p.Cys822Tyr) c.2423G>A (p.Cys808Tyr) c.1496G>A (p.Cys499Tyr) | gnomAD v4 |
20 | g.63406784A>C | CA409636904 | KCNQ2 | c.2533T>G (p.Cys845Gly) c.2479T>G (p.Cys827Gly) c.1876T>G (p.Cys626Gly) c.2386T>G (p.Cys796Gly) c.2047T>G (p.Cys683Gly) c.2395T>G (p.Cys799Gly) c.2241+262T>G (n.2241+262T>G) c.2205+262T>G (n.2205+262T>G) c.2425T>G (p.Cys809Gly) c.2133+262T>G (n.2133+262T>G) c.1680-5941T>G (n.1680-5941T>G) c.2521T>G (p.Cys841Gly) c.2587T>G (p.Cys863Gly) c.2584T>G (p.Cys862Gly) c.2557T>G (p.Cys853Gly) c.2503T>G (p.Cys835Gly) c.2476T>G (p.Cys826Gly) c.2461T>G (p.Cys821Gly) c.2068T>G (p.Cys690Gly) c.2530T>G (p.Cys844Gly) c.2467T>G (p.Cys823Gly) c.2464T>G (p.Cys822Gly) c.2422T>G (p.Cys808Gly) c.1495T>G (p.Cys499Gly) | |
20 | g.63406784A>G | CA409636905 | KCNQ2 | c.2533T>C (p.Cys845Arg) c.2479T>C (p.Cys827Arg) c.1876T>C (p.Cys626Arg) c.2386T>C (p.Cys796Arg) c.2047T>C (p.Cys683Arg) c.2395T>C (p.Cys799Arg) c.2241+262T>C (n.2241+262T>C) c.2205+262T>C (n.2205+262T>C) c.2425T>C (p.Cys809Arg) c.2133+262T>C (n.2133+262T>C) c.1680-5941T>C (n.1680-5941T>C) c.2521T>C (p.Cys841Arg) c.2587T>C (p.Cys863Arg) c.2584T>C (p.Cys862Arg) c.2557T>C (p.Cys853Arg) c.2503T>C (p.Cys835Arg) c.2476T>C (p.Cys826Arg) c.2461T>C (p.Cys821Arg) c.2068T>C (p.Cys690Arg) c.2530T>C (p.Cys844Arg) c.2467T>C (p.Cys823Arg) c.2464T>C (p.Cys822Arg) c.2422T>C (p.Cys808Arg) c.1495T>C (p.Cys499Arg) | ClinVar dbSNP |
20 | g.63406784A>T | CA409636907 | KCNQ2 | c.2533T>A (p.Cys845Ser) c.2479T>A (p.Cys827Ser) c.1876T>A (p.Cys626Ser) c.2386T>A (p.Cys796Ser) c.2047T>A (p.Cys683Ser) c.2395T>A (p.Cys799Ser) c.2241+262T>A (n.2241+262T>A) c.2205+262T>A (n.2205+262T>A) c.2425T>A (p.Cys809Ser) c.2133+262T>A (n.2133+262T>A) c.1680-5941T>A (n.1680-5941T>A) c.2521T>A (p.Cys841Ser) c.2587T>A (p.Cys863Ser) c.2584T>A (p.Cys862Ser) c.2557T>A (p.Cys853Ser) c.2503T>A (p.Cys835Ser) c.2476T>A (p.Cys826Ser) c.2461T>A (p.Cys821Ser) c.2068T>A (p.Cys690Ser) c.2530T>A (p.Cys844Ser) c.2467T>A (p.Cys823Ser) c.2464T>A (p.Cys822Ser) c.2422T>A (p.Cys808Ser) c.1495T>A (p.Cys499Ser) | |
20 | g.63406785A>C | CA511339288 | KCNQ2 | c.2532T>G (p.Pro844=) c.2478T>G (p.Pro826=) c.1875T>G (p.Pro625=) c.2385T>G (p.Pro795=) c.2046T>G (p.Pro682=) c.2394T>G (p.Pro798=) c.2241+261T>G (n.2241+261T>G) c.2205+261T>G (n.2205+261T>G) c.2424T>G (p.Pro808=) c.2133+261T>G (n.2133+261T>G) c.1680-5942T>G (n.1680-5942T>G) c.2520T>G (p.Pro840=) c.2586T>G (p.Pro862=) c.2583T>G (p.Pro861=) c.2556T>G (p.Pro852=) c.2502T>G (p.Pro834=) c.2475T>G (p.Pro825=) c.2460T>G (p.Pro820=) c.2067T>G (p.Pro689=) c.2529T>G (p.Pro843=) c.2466T>G (p.Pro822=) c.2463T>G (p.Pro821=) c.2421T>G (p.Pro807=) c.1494T>G (p.Pro498=) | |
20 | g.63406785A>G | CA511339290 | KCNQ2 | c.2532T>C (p.Pro844=) c.2478T>C (p.Pro826=) c.1875T>C (p.Pro625=) c.2385T>C (p.Pro795=) c.2046T>C (p.Pro682=) c.2394T>C (p.Pro798=) c.2241+261T>C (n.2241+261T>C) c.2205+261T>C (n.2205+261T>C) c.2424T>C (p.Pro808=) c.2133+261T>C (n.2133+261T>C) c.1680-5942T>C (n.1680-5942T>C) c.2520T>C (p.Pro840=) c.2586T>C (p.Pro862=) c.2583T>C (p.Pro861=) c.2556T>C (p.Pro852=) c.2502T>C (p.Pro834=) c.2475T>C (p.Pro825=) c.2460T>C (p.Pro820=) c.2067T>C (p.Pro689=) c.2529T>C (p.Pro843=) c.2466T>C (p.Pro822=) c.2463T>C (p.Pro821=) c.2421T>C (p.Pro807=) c.1494T>C (p.Pro498=) | dbSNP |
20 | g.63406785A>T | CA511339292 | KCNQ2 | c.2532T>A (p.Pro844=) c.2478T>A (p.Pro826=) c.1875T>A (p.Pro625=) c.2385T>A (p.Pro795=) c.2046T>A (p.Pro682=) c.2394T>A (p.Pro798=) c.2241+261T>A (n.2241+261T>A) c.2205+261T>A (n.2205+261T>A) c.2424T>A (p.Pro808=) c.2133+261T>A (n.2133+261T>A) c.1680-5942T>A (n.1680-5942T>A) c.2520T>A (p.Pro840=) c.2586T>A (p.Pro862=) c.2583T>A (p.Pro861=) c.2556T>A (p.Pro852=) c.2502T>A (p.Pro834=) c.2475T>A (p.Pro825=) c.2460T>A (p.Pro820=) c.2067T>A (p.Pro689=) c.2529T>A (p.Pro843=) c.2466T>A (p.Pro822=) c.2463T>A (p.Pro821=) c.2421T>A (p.Pro807=) c.1494T>A (p.Pro498=) | |
20 | g.63406786G>A | CA409636912 | KCNQ2 | c.2531C>T (p.Pro844Leu) c.2477C>T (p.Pro826Leu) c.1874C>T (p.Pro625Leu) c.2384C>T (p.Pro795Leu) c.2045C>T (p.Pro682Leu) c.2393C>T (p.Pro798Leu) c.2241+260C>T (n.2241+260C>T) c.2205+260C>T (n.2205+260C>T) c.2423C>T (p.Pro808Leu) c.2133+260C>T (n.2133+260C>T) c.1680-5943C>T (n.1680-5943C>T) c.2519C>T (p.Pro840Leu) c.2585C>T (p.Pro862Leu) c.2582C>T (p.Pro861Leu) c.2555C>T (p.Pro852Leu) c.2501C>T (p.Pro834Leu) c.2474C>T (p.Pro825Leu) c.2459C>T (p.Pro820Leu) c.2066C>T (p.Pro689Leu) c.2528C>T (p.Pro843Leu) c.2465C>T (p.Pro822Leu) c.2462C>T (p.Pro821Leu) c.2420C>T (p.Pro807Leu) c.1493C>T (p.Pro498Leu) | |
20 | g.63406786G>C | CA409636910 | KCNQ2 | c.2531C>G (p.Pro844Arg) c.2477C>G (p.Pro826Arg) c.1874C>G (p.Pro625Arg) c.2384C>G (p.Pro795Arg) c.2045C>G (p.Pro682Arg) c.2393C>G (p.Pro798Arg) c.2241+260C>G (n.2241+260C>G) c.2205+260C>G (n.2205+260C>G) c.2423C>G (p.Pro808Arg) c.2133+260C>G (n.2133+260C>G) c.1680-5943C>G (n.1680-5943C>G) c.2519C>G (p.Pro840Arg) c.2585C>G (p.Pro862Arg) c.2582C>G (p.Pro861Arg) c.2555C>G (p.Pro852Arg) c.2501C>G (p.Pro834Arg) c.2474C>G (p.Pro825Arg) c.2459C>G (p.Pro820Arg) c.2066C>G (p.Pro689Arg) c.2528C>G (p.Pro843Arg) c.2465C>G (p.Pro822Arg) c.2462C>G (p.Pro821Arg) c.2420C>G (p.Pro807Arg) c.1493C>G (p.Pro498Arg) | ClinVar dbSNP |
20 | g.63406786G>T | CA409636909 | KCNQ2 | c.2531C>A (p.Pro844His) c.2477C>A (p.Pro826His) c.1874C>A (p.Pro625His) c.2384C>A (p.Pro795His) c.2045C>A (p.Pro682His) c.2393C>A (p.Pro798His) c.2241+260C>A (n.2241+260C>A) c.2205+260C>A (n.2205+260C>A) c.2423C>A (p.Pro808His) c.2133+260C>A (n.2133+260C>A) c.1680-5943C>A (n.1680-5943C>A) c.2519C>A (p.Pro840His) c.2585C>A (p.Pro862His) c.2582C>A (p.Pro861His) c.2555C>A (p.Pro852His) c.2501C>A (p.Pro834His) c.2474C>A (p.Pro825His) c.2459C>A (p.Pro820His) c.2066C>A (p.Pro689His) c.2528C>A (p.Pro843His) c.2465C>A (p.Pro822His) c.2462C>A (p.Pro821His) c.2420C>A (p.Pro807His) c.1493C>A (p.Pro498His) | COSMIC COSMIC COSMIC |
20 | g.63406787G>A | CA409636914 | KCNQ2 | c.2530C>T (p.Pro844Ser) c.2476C>T (p.Pro826Ser) c.1873C>T (p.Pro625Ser) c.2383C>T (p.Pro795Ser) c.2044C>T (p.Pro682Ser) c.2392C>T (p.Pro798Ser) c.2241+259C>T (n.2241+259C>T) c.2205+259C>T (n.2205+259C>T) c.2422C>T (p.Pro808Ser) c.2133+259C>T (n.2133+259C>T) c.1680-5944C>T (n.1680-5944C>T) c.2518C>T (p.Pro840Ser) c.2584C>T (p.Pro862Ser) c.2581C>T (p.Pro861Ser) c.2554C>T (p.Pro852Ser) c.2500C>T (p.Pro834Ser) c.2473C>T (p.Pro825Ser) c.2458C>T (p.Pro820Ser) c.2065C>T (p.Pro689Ser) c.2527C>T (p.Pro843Ser) c.2464C>T (p.Pro822Ser) c.2461C>T (p.Pro821Ser) c.2419C>T (p.Pro807Ser) c.1492C>T (p.Pro498Ser) | |
20 | g.63406787G>C | CA409636916 | KCNQ2 | c.2530C>G (p.Pro844Ala) c.2476C>G (p.Pro826Ala) c.1873C>G (p.Pro625Ala) c.2383C>G (p.Pro795Ala) c.2044C>G (p.Pro682Ala) c.2392C>G (p.Pro798Ala) c.2241+259C>G (n.2241+259C>G) c.2205+259C>G (n.2205+259C>G) c.2422C>G (p.Pro808Ala) c.2133+259C>G (n.2133+259C>G) c.1680-5944C>G (n.1680-5944C>G) c.2518C>G (p.Pro840Ala) c.2584C>G (p.Pro862Ala) c.2581C>G (p.Pro861Ala) c.2554C>G (p.Pro852Ala) c.2500C>G (p.Pro834Ala) c.2473C>G (p.Pro825Ala) c.2458C>G (p.Pro820Ala) c.2065C>G (p.Pro689Ala) c.2527C>G (p.Pro843Ala) c.2464C>G (p.Pro822Ala) c.2461C>G (p.Pro821Ala) c.2419C>G (p.Pro807Ala) c.1492C>G (p.Pro498Ala) | |
20 | g.63406787G>T | CA409636918 | KCNQ2 | c.2530C>A (p.Pro844Thr) c.2476C>A (p.Pro826Thr) c.1873C>A (p.Pro625Thr) c.2383C>A (p.Pro795Thr) c.2044C>A (p.Pro682Thr) c.2392C>A (p.Pro798Thr) c.2241+259C>A (n.2241+259C>A) c.2205+259C>A (n.2205+259C>A) c.2422C>A (p.Pro808Thr) c.2133+259C>A (n.2133+259C>A) c.1680-5944C>A (n.1680-5944C>A) c.2518C>A (p.Pro840Thr) c.2584C>A (p.Pro862Thr) c.2581C>A (p.Pro861Thr) c.2554C>A (p.Pro852Thr) c.2500C>A (p.Pro834Thr) c.2473C>A (p.Pro825Thr) c.2458C>A (p.Pro820Thr) c.2065C>A (p.Pro689Thr) c.2527C>A (p.Pro843Thr) c.2464C>A (p.Pro822Thr) c.2461C>A (p.Pro821Thr) c.2419C>A (p.Pro807Thr) c.1492C>A (p.Pro498Thr) | gnomAD v4 |
20 | g.63406788C>A | CA511339299 | KCNQ2 | c.2529G>T (p.Ala843=) c.2475G>T (p.Ala825=) c.1872G>T (p.Ala624=) c.2382G>T (p.Ala794=) c.2043G>T (p.Ala681=) c.2391G>T (p.Ala797=) c.2241+258G>T (n.2241+258G>T) c.2205+258G>T (n.2205+258G>T) c.2421G>T (p.Ala807=) c.2133+258G>T (n.2133+258G>T) c.1680-5945G>T (n.1680-5945G>T) c.2517G>T (p.Ala839=) c.2583G>T (p.Ala861=) c.2580G>T (p.Ala860=) c.2553G>T (p.Ala851=) c.2499G>T (p.Ala833=) c.2472G>T (p.Ala824=) c.2457G>T (p.Ala819=) c.2064G>T (p.Ala688=) c.2526G>T (p.Ala842=) c.2463G>T (p.Ala821=) c.2460G>T (p.Ala820=) c.2418G>T (p.Ala806=) c.1491G>T (p.Ala497=) | |
20 | g.63406788C= | CA2374774247 | KCNQ2 | c.2529G= (p.Ala843=) c.2475G= (p.Ala825=) c.1872G= (p.Ala624=) c.2382G= (p.Ala794=) c.2043G= (p.Ala681=) c.2391G= (p.Ala797=) c.2241+258G= (n.2241+258G=) c.2205+258G= (n.2205+258G=) c.2421G= (p.Ala807=) c.2133+258G= (n.2133+258G=) c.1680-5945G= (n.1680-5945G=) c.2517G= (p.Ala839=) c.2583G= (p.Ala861=) c.2580G= (p.Ala860=) c.2553G= (p.Ala851=) c.2499G= (p.Ala833=) c.2472G= (p.Ala824=) c.2457G= (p.Ala819=) c.2064G= (p.Ala688=) c.2526G= (p.Ala842=) c.2463G= (p.Ala821=) c.2460G= (p.Ala820=) c.2418G= (p.Ala806=) c.1491G= (p.Ala497=) | |
20 | g.63406788C>G | CA511339295 | KCNQ2 | c.2529G>C (p.Ala843=) c.2475G>C (p.Ala825=) c.1872G>C (p.Ala624=) c.2382G>C (p.Ala794=) c.2043G>C (p.Ala681=) c.2391G>C (p.Ala797=) c.2241+258G>C (n.2241+258G>C) c.2205+258G>C (n.2205+258G>C) c.2421G>C (p.Ala807=) c.2133+258G>C (n.2133+258G>C) c.1680-5945G>C (n.1680-5945G>C) c.2517G>C (p.Ala839=) c.2583G>C (p.Ala861=) c.2580G>C (p.Ala860=) c.2553G>C (p.Ala851=) c.2499G>C (p.Ala833=) c.2472G>C (p.Ala824=) c.2457G>C (p.Ala819=) c.2064G>C (p.Ala688=) c.2526G>C (p.Ala842=) c.2463G>C (p.Ala821=) c.2460G>C (p.Ala820=) c.2418G>C (p.Ala806=) c.1491G>C (p.Ala497=) | |
20 | g.63406788C>T | CA511339298 | KCNQ2 | c.2529G>A (p.Ala843=) c.2475G>A (p.Ala825=) c.1872G>A (p.Ala624=) c.2382G>A (p.Ala794=) c.2043G>A (p.Ala681=) c.2391G>A (p.Ala797=) c.2241+258G>A (n.2241+258G>A) c.2205+258G>A (n.2205+258G>A) c.2421G>A (p.Ala807=) c.2133+258G>A (n.2133+258G>A) c.1680-5945G>A (n.1680-5945G>A) c.2517G>A (p.Ala839=) c.2583G>A (p.Ala861=) c.2580G>A (p.Ala860=) c.2553G>A (p.Ala851=) c.2499G>A (p.Ala833=) c.2472G>A (p.Ala824=) c.2457G>A (p.Ala819=) c.2064G>A (p.Ala688=) c.2526G>A (p.Ala842=) c.2463G>A (p.Ala821=) c.2460G>A (p.Ala820=) c.2418G>A (p.Ala806=) c.1491G>A (p.Ala497=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406789G>A | CA409636920 | KCNQ2 | c.2528C>T (p.Ala843Val) c.2474C>T (p.Ala825Val) c.1871C>T (p.Ala624Val) c.2381C>T (p.Ala794Val) c.2042C>T (p.Ala681Val) c.2390C>T (p.Ala797Val) c.2241+257C>T (n.2241+257C>T) c.2205+257C>T (n.2205+257C>T) c.2420C>T (p.Ala807Val) c.2133+257C>T (n.2133+257C>T) c.1680-5946C>T (n.1680-5946C>T) c.2516C>T (p.Ala839Val) c.2582C>T (p.Ala861Val) c.2579C>T (p.Ala860Val) c.2552C>T (p.Ala851Val) c.2498C>T (p.Ala833Val) c.2471C>T (p.Ala824Val) c.2456C>T (p.Ala819Val) c.2063C>T (p.Ala688Val) c.2525C>T (p.Ala842Val) c.2462C>T (p.Ala821Val) c.2459C>T (p.Ala820Val) c.2417C>T (p.Ala806Val) c.1490C>T (p.Ala497Val) | gnomAD v4 |
20 | g.63406789G>C | CA409636921 | KCNQ2 | c.2528C>G (p.Ala843Gly) c.2474C>G (p.Ala825Gly) c.1871C>G (p.Ala624Gly) c.2381C>G (p.Ala794Gly) c.2042C>G (p.Ala681Gly) c.2390C>G (p.Ala797Gly) c.2241+257C>G (n.2241+257C>G) c.2205+257C>G (n.2205+257C>G) c.2420C>G (p.Ala807Gly) c.2133+257C>G (n.2133+257C>G) c.1680-5946C>G (n.1680-5946C>G) c.2516C>G (p.Ala839Gly) c.2582C>G (p.Ala861Gly) c.2579C>G (p.Ala860Gly) c.2552C>G (p.Ala851Gly) c.2498C>G (p.Ala833Gly) c.2471C>G (p.Ala824Gly) c.2456C>G (p.Ala819Gly) c.2063C>G (p.Ala688Gly) c.2525C>G (p.Ala842Gly) c.2462C>G (p.Ala821Gly) c.2459C>G (p.Ala820Gly) c.2417C>G (p.Ala806Gly) c.1490C>G (p.Ala497Gly) | ClinVar dbSNP |
20 | g.63406789G= | CA2374774248 | KCNQ2 | c.2528C= (p.Ala843=) c.2474C= (p.Ala825=) c.1871C= (p.Ala624=) c.2381C= (p.Ala794=) c.2042C= (p.Ala681=) c.2390C= (p.Ala797=) c.2241+257C= (n.2241+257C=) c.2205+257C= (n.2205+257C=) c.2420C= (p.Ala807=) c.2133+257C= (n.2133+257C=) c.1680-5946C= (n.1680-5946C=) c.2516C= (p.Ala839=) c.2582C= (p.Ala861=) c.2579C= (p.Ala860=) c.2552C= (p.Ala851=) c.2498C= (p.Ala833=) c.2471C= (p.Ala824=) c.2456C= (p.Ala819=) c.2063C= (p.Ala688=) c.2525C= (p.Ala842=) c.2462C= (p.Ala821=) c.2459C= (p.Ala820=) c.2417C= (p.Ala806=) c.1490C= (p.Ala497=) | |
20 | g.63406789G>T | CA409636923 | KCNQ2 | c.2528C>A (p.Ala843Glu) c.2474C>A (p.Ala825Glu) c.1871C>A (p.Ala624Glu) c.2381C>A (p.Ala794Glu) c.2042C>A (p.Ala681Glu) c.2390C>A (p.Ala797Glu) c.2241+257C>A (n.2241+257C>A) c.2205+257C>A (n.2205+257C>A) c.2420C>A (p.Ala807Glu) c.2133+257C>A (n.2133+257C>A) c.1680-5946C>A (n.1680-5946C>A) c.2516C>A (p.Ala839Glu) c.2582C>A (p.Ala861Glu) c.2579C>A (p.Ala860Glu) c.2552C>A (p.Ala851Glu) c.2498C>A (p.Ala833Glu) c.2471C>A (p.Ala824Glu) c.2456C>A (p.Ala819Glu) c.2063C>A (p.Ala688Glu) c.2525C>A (p.Ala842Glu) c.2462C>A (p.Ala821Glu) c.2459C>A (p.Ala820Glu) c.2417C>A (p.Ala806Glu) c.1490C>A (p.Ala497Glu) | COSMIC |
20 | g.63406790C>A | CA409636925 | KCNQ2 | c.2527G>T (p.Ala843Ser) c.2473G>T (p.Ala825Ser) c.1870G>T (p.Ala624Ser) c.2380G>T (p.Ala794Ser) c.2041G>T (p.Ala681Ser) c.2389G>T (p.Ala797Ser) c.2241+256G>T (n.2241+256G>T) c.2205+256G>T (n.2205+256G>T) c.2419G>T (p.Ala807Ser) c.2133+256G>T (n.2133+256G>T) c.1680-5947G>T (n.1680-5947G>T) c.2515G>T (p.Ala839Ser) c.2581G>T (p.Ala861Ser) c.2578G>T (p.Ala860Ser) c.2551G>T (p.Ala851Ser) c.2497G>T (p.Ala833Ser) c.2470G>T (p.Ala824Ser) c.2455G>T (p.Ala819Ser) c.2062G>T (p.Ala688Ser) c.2524G>T (p.Ala842Ser) c.2461G>T (p.Ala821Ser) c.2458G>T (p.Ala820Ser) c.2416G>T (p.Ala806Ser) c.1489G>T (p.Ala497Ser) | |
20 | g.63406790C>G | CA409636927 | KCNQ2 | c.2527G>C (p.Ala843Pro) c.2473G>C (p.Ala825Pro) c.1870G>C (p.Ala624Pro) c.2380G>C (p.Ala794Pro) c.2041G>C (p.Ala681Pro) c.2389G>C (p.Ala797Pro) c.2241+256G>C (n.2241+256G>C) c.2205+256G>C (n.2205+256G>C) c.2419G>C (p.Ala807Pro) c.2133+256G>C (n.2133+256G>C) c.1680-5947G>C (n.1680-5947G>C) c.2515G>C (p.Ala839Pro) c.2581G>C (p.Ala861Pro) c.2578G>C (p.Ala860Pro) c.2551G>C (p.Ala851Pro) c.2497G>C (p.Ala833Pro) c.2470G>C (p.Ala824Pro) c.2455G>C (p.Ala819Pro) c.2062G>C (p.Ala688Pro) c.2524G>C (p.Ala842Pro) c.2461G>C (p.Ala821Pro) c.2458G>C (p.Ala820Pro) c.2416G>C (p.Ala806Pro) c.1489G>C (p.Ala497Pro) | |
20 | g.63406790C>T | CA409636929 | KCNQ2 | c.2527G>A (p.Ala843Thr) c.2473G>A (p.Ala825Thr) c.1870G>A (p.Ala624Thr) c.2380G>A (p.Ala794Thr) c.2041G>A (p.Ala681Thr) c.2389G>A (p.Ala797Thr) c.2241+256G>A (n.2241+256G>A) c.2205+256G>A (n.2205+256G>A) c.2419G>A (p.Ala807Thr) c.2133+256G>A (n.2133+256G>A) c.1680-5947G>A (n.1680-5947G>A) c.2515G>A (p.Ala839Thr) c.2581G>A (p.Ala861Thr) c.2578G>A (p.Ala860Thr) c.2551G>A (p.Ala851Thr) c.2497G>A (p.Ala833Thr) c.2470G>A (p.Ala824Thr) c.2455G>A (p.Ala819Thr) c.2062G>A (p.Ala688Thr) c.2524G>A (p.Ala842Thr) c.2461G>A (p.Ala821Thr) c.2458G>A (p.Ala820Thr) c.2416G>A (p.Ala806Thr) c.1489G>A (p.Ala497Thr) | |
20 | g.63406791C>A | CA511339306 | KCNQ2 | c.2526G>T (p.Val842=) c.2472G>T (p.Val824=) c.1869G>T (p.Val623=) c.2379G>T (p.Val793=) c.2040G>T (p.Val680=) c.2388G>T (p.Val796=) c.2241+255G>T (n.2241+255G>T) c.2205+255G>T (n.2205+255G>T) c.2418G>T (p.Val806=) c.2133+255G>T (n.2133+255G>T) c.1680-5948G>T (n.1680-5948G>T) c.2514G>T (p.Val838=) c.2580G>T (p.Val860=) c.2577G>T (p.Val859=) c.2550G>T (p.Val850=) c.2496G>T (p.Val832=) c.2469G>T (p.Val823=) c.2454G>T (p.Val818=) c.2061G>T (p.Val687=) c.2523G>T (p.Val841=) c.2460G>T (p.Val820=) c.2457G>T (p.Val819=) c.2415G>T (p.Val805=) c.1488G>T (p.Val496=) | |
20 | g.63406791C>G | CA511339307 | KCNQ2 | c.2526G>C (p.Val842=) c.2472G>C (p.Val824=) c.1869G>C (p.Val623=) c.2379G>C (p.Val793=) c.2040G>C (p.Val680=) c.2388G>C (p.Val796=) c.2241+255G>C (n.2241+255G>C) c.2205+255G>C (n.2205+255G>C) c.2418G>C (p.Val806=) c.2133+255G>C (n.2133+255G>C) c.1680-5948G>C (n.1680-5948G>C) c.2514G>C (p.Val838=) c.2580G>C (p.Val860=) c.2577G>C (p.Val859=) c.2550G>C (p.Val850=) c.2496G>C (p.Val832=) c.2469G>C (p.Val823=) c.2454G>C (p.Val818=) c.2061G>C (p.Val687=) c.2523G>C (p.Val841=) c.2460G>C (p.Val820=) c.2457G>C (p.Val819=) c.2415G>C (p.Val805=) c.1488G>C (p.Val496=) | |
20 | g.63406791C>T | CA511339308 | KCNQ2 | c.2526G>A (p.Val842=) c.2472G>A (p.Val824=) c.1869G>A (p.Val623=) c.2379G>A (p.Val793=) c.2040G>A (p.Val680=) c.2388G>A (p.Val796=) c.2241+255G>A (n.2241+255G>A) c.2205+255G>A (n.2205+255G>A) c.2418G>A (p.Val806=) c.2133+255G>A (n.2133+255G>A) c.1680-5948G>A (n.1680-5948G>A) c.2514G>A (p.Val838=) c.2580G>A (p.Val860=) c.2577G>A (p.Val859=) c.2550G>A (p.Val850=) c.2496G>A (p.Val832=) c.2469G>A (p.Val823=) c.2454G>A (p.Val818=) c.2061G>A (p.Val687=) c.2523G>A (p.Val841=) c.2460G>A (p.Val820=) c.2457G>A (p.Val819=) c.2415G>A (p.Val805=) c.1488G>A (p.Val496=) | |
20 | g.63406792A>C | CA409636931 | KCNQ2 | c.2525T>G (p.Val842Gly) c.2471T>G (p.Val824Gly) c.1868T>G (p.Val623Gly) c.2378T>G (p.Val793Gly) c.2039T>G (p.Val680Gly) c.2387T>G (p.Val796Gly) c.2241+254T>G (n.2241+254T>G) c.2205+254T>G (n.2205+254T>G) c.2417T>G (p.Val806Gly) c.2133+254T>G (n.2133+254T>G) c.1680-5949T>G (n.1680-5949T>G) c.2513T>G (p.Val838Gly) c.2579T>G (p.Val860Gly) c.2576T>G (p.Val859Gly) c.2549T>G (p.Val850Gly) c.2495T>G (p.Val832Gly) c.2468T>G (p.Val823Gly) c.2453T>G (p.Val818Gly) c.2060T>G (p.Val687Gly) c.2522T>G (p.Val841Gly) c.2459T>G (p.Val820Gly) c.2456T>G (p.Val819Gly) c.2414T>G (p.Val805Gly) c.1487T>G (p.Val496Gly) | |
20 | g.63406792A>G | CA409636933 | KCNQ2 | c.2525T>C (p.Val842Ala) c.2471T>C (p.Val824Ala) c.1868T>C (p.Val623Ala) c.2378T>C (p.Val793Ala) c.2039T>C (p.Val680Ala) c.2387T>C (p.Val796Ala) c.2241+254T>C (n.2241+254T>C) c.2205+254T>C (n.2205+254T>C) c.2417T>C (p.Val806Ala) c.2133+254T>C (n.2133+254T>C) c.1680-5949T>C (n.1680-5949T>C) c.2513T>C (p.Val838Ala) c.2579T>C (p.Val860Ala) c.2576T>C (p.Val859Ala) c.2549T>C (p.Val850Ala) c.2495T>C (p.Val832Ala) c.2468T>C (p.Val823Ala) c.2453T>C (p.Val818Ala) c.2060T>C (p.Val687Ala) c.2522T>C (p.Val841Ala) c.2459T>C (p.Val820Ala) c.2456T>C (p.Val819Ala) c.2414T>C (p.Val805Ala) c.1487T>C (p.Val496Ala) | gnomAD v4 |
20 | g.63406792A>T | CA409636935 | KCNQ2 | c.2525T>A (p.Val842Glu) c.2471T>A (p.Val824Glu) c.1868T>A (p.Val623Glu) c.2378T>A (p.Val793Glu) c.2039T>A (p.Val680Glu) c.2387T>A (p.Val796Glu) c.2241+254T>A (n.2241+254T>A) c.2205+254T>A (n.2205+254T>A) c.2417T>A (p.Val806Glu) c.2133+254T>A (n.2133+254T>A) c.1680-5949T>A (n.1680-5949T>A) c.2513T>A (p.Val838Glu) c.2579T>A (p.Val860Glu) c.2576T>A (p.Val859Glu) c.2549T>A (p.Val850Glu) c.2495T>A (p.Val832Glu) c.2468T>A (p.Val823Glu) c.2453T>A (p.Val818Glu) c.2060T>A (p.Val687Glu) c.2522T>A (p.Val841Glu) c.2459T>A (p.Val820Glu) c.2456T>A (p.Val819Glu) c.2414T>A (p.Val805Glu) c.1487T>A (p.Val496Glu) | |
20 | g.63406793C>A | CA409636940 | KCNQ2 | c.2524G>T (p.Val842Leu) c.2470G>T (p.Val824Leu) c.1867G>T (p.Val623Leu) c.2377G>T (p.Val793Leu) c.2038G>T (p.Val680Leu) c.2386G>T (p.Val796Leu) c.2241+253G>T (n.2241+253G>T) c.2205+253G>T (n.2205+253G>T) c.2416G>T (p.Val806Leu) c.2133+253G>T (n.2133+253G>T) c.1680-5950G>T (n.1680-5950G>T) c.2512G>T (p.Val838Leu) c.2578G>T (p.Val860Leu) c.2575G>T (p.Val859Leu) c.2548G>T (p.Val850Leu) c.2494G>T (p.Val832Leu) c.2467G>T (p.Val823Leu) c.2452G>T (p.Val818Leu) c.2059G>T (p.Val687Leu) c.2521G>T (p.Val841Leu) c.2458G>T (p.Val820Leu) c.2455G>T (p.Val819Leu) c.2413G>T (p.Val805Leu) c.1486G>T (p.Val496Leu) | |
20 | g.63406793C= | CA2374774249 | KCNQ2 | c.2524G= (p.Val842=) c.2470G= (p.Val824=) c.1867G= (p.Val623=) c.2377G= (p.Val793=) c.2038G= (p.Val680=) c.2386G= (p.Val796=) c.2241+253G= (n.2241+253G=) c.2205+253G= (n.2205+253G=) c.2416G= (p.Val806=) c.2133+253G= (n.2133+253G=) c.1680-5950G= (n.1680-5950G=) c.2512G= (p.Val838=) c.2578G= (p.Val860=) c.2575G= (p.Val859=) c.2548G= (p.Val850=) c.2494G= (p.Val832=) c.2467G= (p.Val823=) c.2452G= (p.Val818=) c.2059G= (p.Val687=) c.2521G= (p.Val841=) c.2458G= (p.Val820=) c.2455G= (p.Val819=) c.2413G= (p.Val805=) c.1486G= (p.Val496=) | |
20 | g.63406793C>G | CA9958070 | KCNQ2 | c.2524G>C (p.Val842Leu) c.2470G>C (p.Val824Leu) c.1867G>C (p.Val623Leu) c.2377G>C (p.Val793Leu) c.2038G>C (p.Val680Leu) c.2386G>C (p.Val796Leu) c.2241+253G>C (n.2241+253G>C) c.2205+253G>C (n.2205+253G>C) c.2416G>C (p.Val806Leu) c.2133+253G>C (n.2133+253G>C) c.1680-5950G>C (n.1680-5950G>C) c.2512G>C (p.Val838Leu) c.2578G>C (p.Val860Leu) c.2575G>C (p.Val859Leu) c.2548G>C (p.Val850Leu) c.2494G>C (p.Val832Leu) c.2467G>C (p.Val823Leu) c.2452G>C (p.Val818Leu) c.2059G>C (p.Val687Leu) c.2521G>C (p.Val841Leu) c.2458G>C (p.Val820Leu) c.2455G>C (p.Val819Leu) c.2413G>C (p.Val805Leu) c.1486G>C (p.Val496Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406793C>T | CA409636938 | KCNQ2 | c.2524G>A (p.Val842Met) c.2470G>A (p.Val824Met) c.1867G>A (p.Val623Met) c.2377G>A (p.Val793Met) c.2038G>A (p.Val680Met) c.2386G>A (p.Val796Met) c.2241+253G>A (n.2241+253G>A) c.2205+253G>A (n.2205+253G>A) c.2416G>A (p.Val806Met) c.2133+253G>A (n.2133+253G>A) c.1680-5950G>A (n.1680-5950G>A) c.2512G>A (p.Val838Met) c.2578G>A (p.Val860Met) c.2575G>A (p.Val859Met) c.2548G>A (p.Val850Met) c.2494G>A (p.Val832Met) c.2467G>A (p.Val823Met) c.2452G>A (p.Val818Met) c.2059G>A (p.Val687Met) c.2521G>A (p.Val841Met) c.2458G>A (p.Val820Met) c.2455G>A (p.Val819Met) c.2413G>A (p.Val805Met) c.1486G>A (p.Val496Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406794G>A | CA9958071 | KCNQ2 | c.2523C>T (p.Ala841=) c.2469C>T (p.Ala823=) c.1866C>T (p.Ala622=) c.2376C>T (p.Ala792=) c.2037C>T (p.Ala679=) c.2385C>T (p.Ala795=) c.2241+252C>T (n.2241+252C>T) c.2205+252C>T (n.2205+252C>T) c.2415C>T (p.Ala805=) c.2133+252C>T (n.2133+252C>T) c.1680-5951C>T (n.1680-5951C>T) c.2511C>T (p.Ala837=) c.2577C>T (p.Ala859=) c.2574C>T (p.Ala858=) c.2547C>T (p.Ala849=) c.2493C>T (p.Ala831=) c.2466C>T (p.Ala822=) c.2451C>T (p.Ala817=) c.2058C>T (p.Ala686=) c.2520C>T (p.Ala840=) c.2457C>T (p.Ala819=) c.2454C>T (p.Ala818=) c.2412C>T (p.Ala804=) c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406794G>C | CA511339313 | KCNQ2 | c.2523C>G (p.Ala841=) c.2469C>G (p.Ala823=) c.1866C>G (p.Ala622=) c.2376C>G (p.Ala792=) c.2037C>G (p.Ala679=) c.2385C>G (p.Ala795=) c.2241+252C>G (n.2241+252C>G) c.2205+252C>G (n.2205+252C>G) c.2415C>G (p.Ala805=) c.2133+252C>G (n.2133+252C>G) c.1680-5951C>G (n.1680-5951C>G) c.2511C>G (p.Ala837=) c.2577C>G (p.Ala859=) c.2574C>G (p.Ala858=) c.2547C>G (p.Ala849=) c.2493C>G (p.Ala831=) c.2466C>G (p.Ala822=) c.2451C>G (p.Ala817=) c.2058C>G (p.Ala686=) c.2520C>G (p.Ala840=) c.2457C>G (p.Ala819=) c.2454C>G (p.Ala818=) c.2412C>G (p.Ala804=) c.1485C>G (p.Ala495=) | gnomAD v4 |
20 | g.63406794G= | CA2374774250 | KCNQ2 | c.2523C= (p.Ala841=) c.2469C= (p.Ala823=) c.1866C= (p.Ala622=) c.2376C= (p.Ala792=) c.2037C= (p.Ala679=) c.2385C= (p.Ala795=) c.2241+252C= (n.2241+252C=) c.2205+252C= (n.2205+252C=) c.2415C= (p.Ala805=) c.2133+252C= (n.2133+252C=) c.1680-5951C= (n.1680-5951C=) c.2511C= (p.Ala837=) c.2577C= (p.Ala859=) c.2574C= (p.Ala858=) c.2547C= (p.Ala849=) c.2493C= (p.Ala831=) c.2466C= (p.Ala822=) c.2451C= (p.Ala817=) c.2058C= (p.Ala686=) c.2520C= (p.Ala840=) c.2457C= (p.Ala819=) c.2454C= (p.Ala818=) c.2412C= (p.Ala804=) c.1485C= (p.Ala495=) | |
20 | g.63406794G>T | CA511339314 | KCNQ2 | c.2523C>A (p.Ala841=) c.2469C>A (p.Ala823=) c.1866C>A (p.Ala622=) c.2376C>A (p.Ala792=) c.2037C>A (p.Ala679=) c.2385C>A (p.Ala795=) c.2241+252C>A (n.2241+252C>A) c.2205+252C>A (n.2205+252C>A) c.2415C>A (p.Ala805=) c.2133+252C>A (n.2133+252C>A) c.1680-5951C>A (n.1680-5951C>A) c.2511C>A (p.Ala837=) c.2577C>A (p.Ala859=) c.2574C>A (p.Ala858=) c.2547C>A (p.Ala849=) c.2493C>A (p.Ala831=) c.2466C>A (p.Ala822=) c.2451C>A (p.Ala817=) c.2058C>A (p.Ala686=) c.2520C>A (p.Ala840=) c.2457C>A (p.Ala819=) c.2454C>A (p.Ala818=) c.2412C>A (p.Ala804=) c.1485C>A (p.Ala495=) | |
20 | g.63406795G>A | CA409636944 | KCNQ2 | c.2522C>T (p.Ala841Val) c.2468C>T (p.Ala823Val) c.1865C>T (p.Ala622Val) c.2375C>T (p.Ala792Val) c.2036C>T (p.Ala679Val) c.2384C>T (p.Ala795Val) c.2241+251C>T (n.2241+251C>T) c.2205+251C>T (n.2205+251C>T) c.2414C>T (p.Ala805Val) c.2133+251C>T (n.2133+251C>T) c.1680-5952C>T (n.1680-5952C>T) c.2510C>T (p.Ala837Val) c.2576C>T (p.Ala859Val) c.2573C>T (p.Ala858Val) c.2546C>T (p.Ala849Val) c.2492C>T (p.Ala831Val) c.2465C>T (p.Ala822Val) c.2450C>T (p.Ala817Val) c.2057C>T (p.Ala686Val) c.2519C>T (p.Ala840Val) c.2456C>T (p.Ala819Val) c.2453C>T (p.Ala818Val) c.2411C>T (p.Ala804Val) c.1484C>T (p.Ala495Val) | |
20 | g.63406795G>C | CA409636945 | KCNQ2 | c.2522C>G (p.Ala841Gly) c.2468C>G (p.Ala823Gly) c.1865C>G (p.Ala622Gly) c.2375C>G (p.Ala792Gly) c.2036C>G (p.Ala679Gly) c.2384C>G (p.Ala795Gly) c.2241+251C>G (n.2241+251C>G) c.2205+251C>G (n.2205+251C>G) c.2414C>G (p.Ala805Gly) c.2133+251C>G (n.2133+251C>G) c.1680-5952C>G (n.1680-5952C>G) c.2510C>G (p.Ala837Gly) c.2576C>G (p.Ala859Gly) c.2573C>G (p.Ala858Gly) c.2546C>G (p.Ala849Gly) c.2492C>G (p.Ala831Gly) c.2465C>G (p.Ala822Gly) c.2450C>G (p.Ala817Gly) c.2057C>G (p.Ala686Gly) c.2519C>G (p.Ala840Gly) c.2456C>G (p.Ala819Gly) c.2453C>G (p.Ala818Gly) c.2411C>G (p.Ala804Gly) c.1484C>G (p.Ala495Gly) | |
20 | g.63406795G>T | CA409636947 | KCNQ2 | c.2522C>A (p.Ala841Asp) c.2468C>A (p.Ala823Asp) c.1865C>A (p.Ala622Asp) c.2375C>A (p.Ala792Asp) c.2036C>A (p.Ala679Asp) c.2384C>A (p.Ala795Asp) c.2241+251C>A (n.2241+251C>A) c.2205+251C>A (n.2205+251C>A) c.2414C>A (p.Ala805Asp) c.2133+251C>A (n.2133+251C>A) c.1680-5952C>A (n.1680-5952C>A) c.2510C>A (p.Ala837Asp) c.2576C>A (p.Ala859Asp) c.2573C>A (p.Ala858Asp) c.2546C>A (p.Ala849Asp) c.2492C>A (p.Ala831Asp) c.2465C>A (p.Ala822Asp) c.2450C>A (p.Ala817Asp) c.2057C>A (p.Ala686Asp) c.2519C>A (p.Ala840Asp) c.2456C>A (p.Ala819Asp) c.2453C>A (p.Ala818Asp) c.2411C>A (p.Ala804Asp) c.1484C>A (p.Ala495Asp) | gnomAD v4 |
20 | g.63406796C>A | CA409636949 | KCNQ2 | c.2521G>T (p.Ala841Ser) c.2467G>T (p.Ala823Ser) c.1864G>T (p.Ala622Ser) c.2374G>T (p.Ala792Ser) c.2035G>T (p.Ala679Ser) c.2383G>T (p.Ala795Ser) c.2241+250G>T (n.2241+250G>T) c.2205+250G>T (n.2205+250G>T) c.2413G>T (p.Ala805Ser) c.2133+250G>T (n.2133+250G>T) c.1680-5953G>T (n.1680-5953G>T) c.2509G>T (p.Ala837Ser) c.2575G>T (p.Ala859Ser) c.2572G>T (p.Ala858Ser) c.2545G>T (p.Ala849Ser) c.2491G>T (p.Ala831Ser) c.2464G>T (p.Ala822Ser) c.2449G>T (p.Ala817Ser) c.2056G>T (p.Ala686Ser) c.2518G>T (p.Ala840Ser) c.2455G>T (p.Ala819Ser) c.2452G>T (p.Ala818Ser) c.2410G>T (p.Ala804Ser) c.1483G>T (p.Ala495Ser) | |
20 | g.63406796C>G | CA409636951 | KCNQ2 | c.2521G>C (p.Ala841Pro) c.2467G>C (p.Ala823Pro) c.1864G>C (p.Ala622Pro) c.2374G>C (p.Ala792Pro) c.2035G>C (p.Ala679Pro) c.2383G>C (p.Ala795Pro) c.2241+250G>C (n.2241+250G>C) c.2205+250G>C (n.2205+250G>C) c.2413G>C (p.Ala805Pro) c.2133+250G>C (n.2133+250G>C) c.1680-5953G>C (n.1680-5953G>C) c.2509G>C (p.Ala837Pro) c.2575G>C (p.Ala859Pro) c.2572G>C (p.Ala858Pro) c.2545G>C (p.Ala849Pro) c.2491G>C (p.Ala831Pro) c.2464G>C (p.Ala822Pro) c.2449G>C (p.Ala817Pro) c.2056G>C (p.Ala686Pro) c.2518G>C (p.Ala840Pro) c.2455G>C (p.Ala819Pro) c.2452G>C (p.Ala818Pro) c.2410G>C (p.Ala804Pro) c.1483G>C (p.Ala495Pro) | |
20 | g.63406796C>T | CA409636953 | KCNQ2 | c.2521G>A (p.Ala841Thr) c.2467G>A (p.Ala823Thr) c.1864G>A (p.Ala622Thr) c.2374G>A (p.Ala792Thr) c.2035G>A (p.Ala679Thr) c.2383G>A (p.Ala795Thr) c.2241+250G>A (n.2241+250G>A) c.2205+250G>A (n.2205+250G>A) c.2413G>A (p.Ala805Thr) c.2133+250G>A (n.2133+250G>A) c.1680-5953G>A (n.1680-5953G>A) c.2509G>A (p.Ala837Thr) c.2575G>A (p.Ala859Thr) c.2572G>A (p.Ala858Thr) c.2545G>A (p.Ala849Thr) c.2491G>A (p.Ala831Thr) c.2464G>A (p.Ala822Thr) c.2449G>A (p.Ala817Thr) c.2056G>A (p.Ala686Thr) c.2518G>A (p.Ala840Thr) c.2455G>A (p.Ala819Thr) c.2452G>A (p.Ala818Thr) c.2410G>A (p.Ala804Thr) c.1483G>A (p.Ala495Thr) | |
20 | g.63406797C>A | CA511339320 | KCNQ2 | c.2520G>T (p.Ala840=) c.2466G>T (p.Ala822=) c.1863G>T (p.Ala621=) c.2373G>T (p.Ala791=) c.2034G>T (p.Ala678=) c.2382G>T (p.Ala794=) c.2241+249G>T (n.2241+249G>T) c.2205+249G>T (n.2205+249G>T) c.2412G>T (p.Ala804=) c.2133+249G>T (n.2133+249G>T) c.1680-5954G>T (n.1680-5954G>T) c.2508G>T (p.Ala836=) c.2574G>T (p.Ala858=) c.2571G>T (p.Ala857=) c.2544G>T (p.Ala848=) c.2490G>T (p.Ala830=) c.2463G>T (p.Ala821=) c.2448G>T (p.Ala816=) c.2055G>T (p.Ala685=) c.2517G>T (p.Ala839=) c.2454G>T (p.Ala818=) c.2451G>T (p.Ala817=) c.2409G>T (p.Ala803=) c.1482G>T (p.Ala494=) | |
20 | g.63406797C= | CA2374774251 | KCNQ2 | c.2520G= (p.Ala840=) c.2466G= (p.Ala822=) c.1863G= (p.Ala621=) c.2373G= (p.Ala791=) c.2034G= (p.Ala678=) c.2382G= (p.Ala794=) c.2241+249G= (n.2241+249G=) c.2205+249G= (n.2205+249G=) c.2412G= (p.Ala804=) c.2133+249G= (n.2133+249G=) c.1680-5954G= (n.1680-5954G=) c.2508G= (p.Ala836=) c.2574G= (p.Ala858=) c.2571G= (p.Ala857=) c.2544G= (p.Ala848=) c.2490G= (p.Ala830=) c.2463G= (p.Ala821=) c.2448G= (p.Ala816=) c.2055G= (p.Ala685=) c.2517G= (p.Ala839=) c.2454G= (p.Ala818=) c.2451G= (p.Ala817=) c.2409G= (p.Ala803=) c.1482G= (p.Ala494=) | |
20 | g.63406797C>G | CA511339321 | KCNQ2 | c.2520G>C (p.Ala840=) c.2466G>C (p.Ala822=) c.1863G>C (p.Ala621=) c.2373G>C (p.Ala791=) c.2034G>C (p.Ala678=) c.2382G>C (p.Ala794=) c.2241+249G>C (n.2241+249G>C) c.2205+249G>C (n.2205+249G>C) c.2412G>C (p.Ala804=) c.2133+249G>C (n.2133+249G>C) c.1680-5954G>C (n.1680-5954G>C) c.2508G>C (p.Ala836=) c.2574G>C (p.Ala858=) c.2571G>C (p.Ala857=) c.2544G>C (p.Ala848=) c.2490G>C (p.Ala830=) c.2463G>C (p.Ala821=) c.2448G>C (p.Ala816=) c.2055G>C (p.Ala685=) c.2517G>C (p.Ala839=) c.2454G>C (p.Ala818=) c.2451G>C (p.Ala817=) c.2409G>C (p.Ala803=) c.1482G>C (p.Ala494=) | |
20 | g.63406797C>T | CA9958072 | KCNQ2 | c.2520G>A (p.Ala840=) c.2466G>A (p.Ala822=) c.1863G>A (p.Ala621=) c.2373G>A (p.Ala791=) c.2034G>A (p.Ala678=) c.2382G>A (p.Ala794=) c.2241+249G>A (n.2241+249G>A) c.2205+249G>A (n.2205+249G>A) c.2412G>A (p.Ala804=) c.2133+249G>A (n.2133+249G>A) c.1680-5954G>A (n.1680-5954G>A) c.2508G>A (p.Ala836=) c.2574G>A (p.Ala858=) c.2571G>A (p.Ala857=) c.2544G>A (p.Ala848=) c.2490G>A (p.Ala830=) c.2463G>A (p.Ala821=) c.2448G>A (p.Ala816=) c.2055G>A (p.Ala685=) c.2517G>A (p.Ala839=) c.2454G>A (p.Ala818=) c.2451G>A (p.Ala817=) c.2409G>A (p.Ala803=) c.1482G>A (p.Ala494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406798G>A | CA090957 | KCNQ2 | c.2519C>T (p.Ala840Val) c.2465C>T (p.Ala822Val) c.1862C>T (p.Ala621Val) c.2372C>T (p.Ala791Val) c.2033C>T (p.Ala678Val) c.2381C>T (p.Ala794Val) c.2241+248C>T (n.2241+248C>T) c.2205+248C>T (n.2205+248C>T) c.2411C>T (p.Ala804Val) c.2133+248C>T (n.2133+248C>T) c.1680-5955C>T (n.1680-5955C>T) c.2507C>T (p.Ala836Val) c.2573C>T (p.Ala858Val) c.2570C>T (p.Ala857Val) c.2543C>T (p.Ala848Val) c.2489C>T (p.Ala830Val) c.2462C>T (p.Ala821Val) c.2447C>T (p.Ala816Val) c.2054C>T (p.Ala685Val) c.2516C>T (p.Ala839Val) c.2453C>T (p.Ala818Val) c.2450C>T (p.Ala817Val) c.2408C>T (p.Ala803Val) c.1481C>T (p.Ala494Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406798G>C | CA409636957 | KCNQ2 | c.2519C>G (p.Ala840Gly) c.2465C>G (p.Ala822Gly) c.1862C>G (p.Ala621Gly) c.2372C>G (p.Ala791Gly) c.2033C>G (p.Ala678Gly) c.2381C>G (p.Ala794Gly) c.2241+248C>G (n.2241+248C>G) c.2205+248C>G (n.2205+248C>G) c.2411C>G (p.Ala804Gly) c.2133+248C>G (n.2133+248C>G) c.1680-5955C>G (n.1680-5955C>G) c.2507C>G (p.Ala836Gly) c.2573C>G (p.Ala858Gly) c.2570C>G (p.Ala857Gly) c.2543C>G (p.Ala848Gly) c.2489C>G (p.Ala830Gly) c.2462C>G (p.Ala821Gly) c.2447C>G (p.Ala816Gly) c.2054C>G (p.Ala685Gly) c.2516C>G (p.Ala839Gly) c.2453C>G (p.Ala818Gly) c.2450C>G (p.Ala817Gly) c.2408C>G (p.Ala803Gly) c.1481C>G (p.Ala494Gly) | |
20 | g.63406798G= | CA2374774252 | KCNQ2 | c.2519C= (p.Ala840=) c.2465C= (p.Ala822=) c.1862C= (p.Ala621=) c.2372C= (p.Ala791=) c.2033C= (p.Ala678=) c.2381C= (p.Ala794=) c.2241+248C= (n.2241+248C=) c.2205+248C= (n.2205+248C=) c.2411C= (p.Ala804=) c.2133+248C= (n.2133+248C=) c.1680-5955C= (n.1680-5955C=) c.2507C= (p.Ala836=) c.2573C= (p.Ala858=) c.2570C= (p.Ala857=) c.2543C= (p.Ala848=) c.2489C= (p.Ala830=) c.2462C= (p.Ala821=) c.2447C= (p.Ala816=) c.2054C= (p.Ala685=) c.2516C= (p.Ala839=) c.2453C= (p.Ala818=) c.2450C= (p.Ala817=) c.2408C= (p.Ala803=) c.1481C= (p.Ala494=) | |
20 | g.63406798G>T | CA409636960 | KCNQ2 | c.2519C>A (p.Ala840Glu) c.2465C>A (p.Ala822Glu) c.1862C>A (p.Ala621Glu) c.2372C>A (p.Ala791Glu) c.2033C>A (p.Ala678Glu) c.2381C>A (p.Ala794Glu) c.2241+248C>A (n.2241+248C>A) c.2205+248C>A (n.2205+248C>A) c.2411C>A (p.Ala804Glu) c.2133+248C>A (n.2133+248C>A) c.1680-5955C>A (n.1680-5955C>A) c.2507C>A (p.Ala836Glu) c.2573C>A (p.Ala858Glu) c.2570C>A (p.Ala857Glu) c.2543C>A (p.Ala848Glu) c.2489C>A (p.Ala830Glu) c.2462C>A (p.Ala821Glu) c.2447C>A (p.Ala816Glu) c.2054C>A (p.Ala685Glu) c.2516C>A (p.Ala839Glu) c.2453C>A (p.Ala818Glu) c.2450C>A (p.Ala817Glu) c.2408C>A (p.Ala803Glu) c.1481C>A (p.Ala494Glu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406798dup | CA2838520115 | KCNQ2 | c.2519dup (p.Ala841GlyfsTer?) c.2465dup (p.Ala823GlyfsTer?) c.1862dup (p.Ala622GlyfsTer?) c.2372dup (p.Ala792GlyfsTer?) c.2033dup (p.Ala679GlyfsTer?) c.2381dup (p.Ala795GlyfsTer?) c.2241+248dup (n.2241+248dup) c.2205+248dup (n.2205+248dup) c.2411dup (p.Ala805GlyfsTer?) c.2133+248dup (n.2133+248dup) c.1680-5955dup (n.1680-5955dup) c.2507dup (p.Ala837GlyfsTer?) c.2573dup (p.Ala859GlyfsTer?) c.2570dup (p.Ala858GlyfsTer?) c.2543dup (p.Ala849GlyfsTer?) c.2489dup (p.Ala831GlyfsTer?) c.2462dup (p.Ala822GlyfsTer?) c.2447dup (p.Ala817GlyfsTer?) c.2054dup (p.Ala686GlyfsTer?) c.2516dup (p.Ala840GlyfsTer?) c.2453dup (p.Ala819GlyfsTer?) c.2450dup (p.Ala818GlyfsTer?) c.2408dup (p.Ala804GlyfsTer?) c.1481dup (p.Ala495GlyfsTer?) | |
20 | g.63406799C>A | CA409636962 | KCNQ2 | c.2518G>T (p.Ala840Ser) c.2464G>T (p.Ala822Ser) c.1861G>T (p.Ala621Ser) c.2371G>T (p.Ala791Ser) c.2032G>T (p.Ala678Ser) c.2380G>T (p.Ala794Ser) c.2241+247G>T (n.2241+247G>T) c.2205+247G>T (n.2205+247G>T) c.2410G>T (p.Ala804Ser) c.2133+247G>T (n.2133+247G>T) c.1680-5956G>T (n.1680-5956G>T) c.2506G>T (p.Ala836Ser) c.2572G>T (p.Ala858Ser) c.2569G>T (p.Ala857Ser) c.2542G>T (p.Ala848Ser) c.2488G>T (p.Ala830Ser) c.2461G>T (p.Ala821Ser) c.2446G>T (p.Ala816Ser) c.2053G>T (p.Ala685Ser) c.2515G>T (p.Ala839Ser) c.2452G>T (p.Ala818Ser) c.2449G>T (p.Ala817Ser) c.2407G>T (p.Ala803Ser) c.1480G>T (p.Ala494Ser) | |
20 | g.63406799C= | CA2374774253 | KCNQ2 | c.2518G= (p.Ala840=) c.2464G= (p.Ala822=) c.1861G= (p.Ala621=) c.2371G= (p.Ala791=) c.2032G= (p.Ala678=) c.2380G= (p.Ala794=) c.2241+247G= (n.2241+247G=) c.2205+247G= (n.2205+247G=) c.2410G= (p.Ala804=) c.2133+247G= (n.2133+247G=) c.1680-5956G= (n.1680-5956G=) c.2506G= (p.Ala836=) c.2572G= (p.Ala858=) c.2569G= (p.Ala857=) c.2542G= (p.Ala848=) c.2488G= (p.Ala830=) c.2461G= (p.Ala821=) c.2446G= (p.Ala816=) c.2053G= (p.Ala685=) c.2515G= (p.Ala839=) c.2452G= (p.Ala818=) c.2449G= (p.Ala817=) c.2407G= (p.Ala803=) c.1480G= (p.Ala494=) | |
20 | g.63406799C>G | CA9958073 | KCNQ2 | c.2518G>C (p.Ala840Pro) c.2464G>C (p.Ala822Pro) c.1861G>C (p.Ala621Pro) c.2371G>C (p.Ala791Pro) c.2032G>C (p.Ala678Pro) c.2380G>C (p.Ala794Pro) c.2241+247G>C (n.2241+247G>C) c.2205+247G>C (n.2205+247G>C) c.2410G>C (p.Ala804Pro) c.2133+247G>C (n.2133+247G>C) c.1680-5956G>C (n.1680-5956G>C) c.2506G>C (p.Ala836Pro) c.2572G>C (p.Ala858Pro) c.2569G>C (p.Ala857Pro) c.2542G>C (p.Ala848Pro) c.2488G>C (p.Ala830Pro) c.2461G>C (p.Ala821Pro) c.2446G>C (p.Ala816Pro) c.2053G>C (p.Ala685Pro) c.2515G>C (p.Ala839Pro) c.2452G>C (p.Ala818Pro) c.2449G>C (p.Ala817Pro) c.2407G>C (p.Ala803Pro) c.1480G>C (p.Ala494Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406799C>T | CA9958074 | KCNQ2 | c.2518G>A (p.Ala840Thr) c.2464G>A (p.Ala822Thr) c.1861G>A (p.Ala621Thr) c.2371G>A (p.Ala791Thr) c.2032G>A (p.Ala678Thr) c.2380G>A (p.Ala794Thr) c.2241+247G>A (n.2241+247G>A) c.2205+247G>A (n.2205+247G>A) c.2410G>A (p.Ala804Thr) c.2133+247G>A (n.2133+247G>A) c.1680-5956G>A (n.1680-5956G>A) c.2506G>A (p.Ala836Thr) c.2572G>A (p.Ala858Thr) c.2569G>A (p.Ala857Thr) c.2542G>A (p.Ala848Thr) c.2488G>A (p.Ala830Thr) c.2461G>A (p.Ala821Thr) c.2446G>A (p.Ala816Thr) c.2053G>A (p.Ala685Thr) c.2515G>A (p.Ala839Thr) c.2452G>A (p.Ala818Thr) c.2449G>A (p.Ala817Thr) c.2407G>A (p.Ala803Thr) c.1480G>A (p.Ala494Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406800G>A | CA9958075 | KCNQ2 | c.2517C>T (p.Tyr839=) c.2463C>T (p.Tyr821=) c.1860C>T (p.Tyr620=) c.2370C>T (p.Tyr790=) c.2031C>T (p.Tyr677=) c.2379C>T (p.Tyr793=) c.2241+246C>T (n.2241+246C>T) c.2205+246C>T (n.2205+246C>T) c.2409C>T (p.Tyr803=) c.2133+246C>T (n.2133+246C>T) c.1680-5957C>T (n.1680-5957C>T) c.2505C>T (p.Tyr835=) c.2571C>T (p.Tyr857=) c.2568C>T (p.Tyr856=) c.2541C>T (p.Tyr847=) c.2487C>T (p.Tyr829=) c.2460C>T (p.Tyr820=) c.2445C>T (p.Tyr815=) c.2052C>T (p.Tyr684=) c.2514C>T (p.Tyr838=) c.2451C>T (p.Tyr817=) c.2448C>T (p.Tyr816=) c.2406C>T (p.Tyr802=) c.1479C>T (p.Tyr493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406800G>C | CA409636966 | KCNQ2 | c.2517C>G (p.Tyr839Ter) c.2463C>G (p.Tyr821Ter) c.1860C>G (p.Tyr620Ter) c.2370C>G (p.Tyr790Ter) c.2031C>G (p.Tyr677Ter) c.2379C>G (p.Tyr793Ter) c.2241+246C>G (n.2241+246C>G) c.2205+246C>G (n.2205+246C>G) c.2409C>G (p.Tyr803Ter) c.2133+246C>G (n.2133+246C>G) c.1680-5957C>G (n.1680-5957C>G) c.2505C>G (p.Tyr835Ter) c.2571C>G (p.Tyr857Ter) c.2568C>G (p.Tyr856Ter) c.2541C>G (p.Tyr847Ter) c.2487C>G (p.Tyr829Ter) c.2460C>G (p.Tyr820Ter) c.2445C>G (p.Tyr815Ter) c.2052C>G (p.Tyr684Ter) c.2514C>G (p.Tyr838Ter) c.2451C>G (p.Tyr817Ter) c.2448C>G (p.Tyr816Ter) c.2406C>G (p.Tyr802Ter) c.1479C>G (p.Tyr493Ter) | COSMIC COSMIC COSMIC |
20 | g.63406800G= | CA2374774254 | KCNQ2 | c.2517C= (p.Tyr839=) c.2463C= (p.Tyr821=) c.1860C= (p.Tyr620=) c.2370C= (p.Tyr790=) c.2031C= (p.Tyr677=) c.2379C= (p.Tyr793=) c.2241+246C= (n.2241+246C=) c.2205+246C= (n.2205+246C=) c.2409C= (p.Tyr803=) c.2133+246C= (n.2133+246C=) c.1680-5957C= (n.1680-5957C=) c.2505C= (p.Tyr835=) c.2571C= (p.Tyr857=) c.2568C= (p.Tyr856=) c.2541C= (p.Tyr847=) c.2487C= (p.Tyr829=) c.2460C= (p.Tyr820=) c.2445C= (p.Tyr815=) c.2052C= (p.Tyr684=) c.2514C= (p.Tyr838=) c.2451C= (p.Tyr817=) c.2448C= (p.Tyr816=) c.2406C= (p.Tyr802=) c.1479C= (p.Tyr493=) | |
20 | g.63406800G>T | CA409636965 | KCNQ2 | c.2517C>A (p.Tyr839Ter) c.2463C>A (p.Tyr821Ter) c.1860C>A (p.Tyr620Ter) c.2370C>A (p.Tyr790Ter) c.2031C>A (p.Tyr677Ter) c.2379C>A (p.Tyr793Ter) c.2241+246C>A (n.2241+246C>A) c.2205+246C>A (n.2205+246C>A) c.2409C>A (p.Tyr803Ter) c.2133+246C>A (n.2133+246C>A) c.1680-5957C>A (n.1680-5957C>A) c.2505C>A (p.Tyr835Ter) c.2571C>A (p.Tyr857Ter) c.2568C>A (p.Tyr856Ter) c.2541C>A (p.Tyr847Ter) c.2487C>A (p.Tyr829Ter) c.2460C>A (p.Tyr820Ter) c.2445C>A (p.Tyr815Ter) c.2052C>A (p.Tyr684Ter) c.2514C>A (p.Tyr838Ter) c.2451C>A (p.Tyr817Ter) c.2448C>A (p.Tyr816Ter) c.2406C>A (p.Tyr802Ter) c.1479C>A (p.Tyr493Ter) | |
20 | g.63406801T>A | CA409636969 | KCNQ2 | c.2516A>T (p.Tyr839Phe) c.2462A>T (p.Tyr821Phe) c.1859A>T (p.Tyr620Phe) c.2369A>T (p.Tyr790Phe) c.2030A>T (p.Tyr677Phe) c.2378A>T (p.Tyr793Phe) c.2241+245A>T (n.2241+245A>T) c.2205+245A>T (n.2205+245A>T) c.2408A>T (p.Tyr803Phe) c.2133+245A>T (n.2133+245A>T) c.1680-5958A>T (n.1680-5958A>T) c.2504A>T (p.Tyr835Phe) c.2570A>T (p.Tyr857Phe) c.2567A>T (p.Tyr856Phe) c.2540A>T (p.Tyr847Phe) c.2486A>T (p.Tyr829Phe) c.2459A>T (p.Tyr820Phe) c.2444A>T (p.Tyr815Phe) c.2051A>T (p.Tyr684Phe) c.2513A>T (p.Tyr838Phe) c.2450A>T (p.Tyr817Phe) c.2447A>T (p.Tyr816Phe) c.2405A>T (p.Tyr802Phe) c.1478A>T (p.Tyr493Phe) | gnomAD v4 |
20 | g.63406801T>C | CA409636971 | KCNQ2 | c.2516A>G (p.Tyr839Cys) c.2462A>G (p.Tyr821Cys) c.1859A>G (p.Tyr620Cys) c.2369A>G (p.Tyr790Cys) c.2030A>G (p.Tyr677Cys) c.2378A>G (p.Tyr793Cys) c.2241+245A>G (n.2241+245A>G) c.2205+245A>G (n.2205+245A>G) c.2408A>G (p.Tyr803Cys) c.2133+245A>G (n.2133+245A>G) c.1680-5958A>G (n.1680-5958A>G) c.2504A>G (p.Tyr835Cys) c.2570A>G (p.Tyr857Cys) c.2567A>G (p.Tyr856Cys) c.2540A>G (p.Tyr847Cys) c.2486A>G (p.Tyr829Cys) c.2459A>G (p.Tyr820Cys) c.2444A>G (p.Tyr815Cys) c.2051A>G (p.Tyr684Cys) c.2513A>G (p.Tyr838Cys) c.2450A>G (p.Tyr817Cys) c.2447A>G (p.Tyr816Cys) c.2405A>G (p.Tyr802Cys) c.1478A>G (p.Tyr493Cys) | gnomAD v4 |
20 | g.63406801T>G | CA409636972 | KCNQ2 | c.2516A>C (p.Tyr839Ser) c.2462A>C (p.Tyr821Ser) c.1859A>C (p.Tyr620Ser) c.2369A>C (p.Tyr790Ser) c.2030A>C (p.Tyr677Ser) c.2378A>C (p.Tyr793Ser) c.2241+245A>C (n.2241+245A>C) c.2205+245A>C (n.2205+245A>C) c.2408A>C (p.Tyr803Ser) c.2133+245A>C (n.2133+245A>C) c.1680-5958A>C (n.1680-5958A>C) c.2504A>C (p.Tyr835Ser) c.2570A>C (p.Tyr857Ser) c.2567A>C (p.Tyr856Ser) c.2540A>C (p.Tyr847Ser) c.2486A>C (p.Tyr829Ser) c.2459A>C (p.Tyr820Ser) c.2444A>C (p.Tyr815Ser) c.2051A>C (p.Tyr684Ser) c.2513A>C (p.Tyr838Ser) c.2450A>C (p.Tyr817Ser) c.2447A>C (p.Tyr816Ser) c.2405A>C (p.Tyr802Ser) c.1478A>C (p.Tyr493Ser) | |
20 | g.63406802A>C | CA409636975 | KCNQ2 | c.2515T>G (p.Tyr839Asp) c.2461T>G (p.Tyr821Asp) c.1858T>G (p.Tyr620Asp) c.2368T>G (p.Tyr790Asp) c.2029T>G (p.Tyr677Asp) c.2377T>G (p.Tyr793Asp) c.2241+244T>G (n.2241+244T>G) c.2205+244T>G (n.2205+244T>G) c.2407T>G (p.Tyr803Asp) c.2133+244T>G (n.2133+244T>G) c.1680-5959T>G (n.1680-5959T>G) c.2503T>G (p.Tyr835Asp) c.2569T>G (p.Tyr857Asp) c.2566T>G (p.Tyr856Asp) c.2539T>G (p.Tyr847Asp) c.2485T>G (p.Tyr829Asp) c.2458T>G (p.Tyr820Asp) c.2443T>G (p.Tyr815Asp) c.2050T>G (p.Tyr684Asp) c.2512T>G (p.Tyr838Asp) c.2449T>G (p.Tyr817Asp) c.2446T>G (p.Tyr816Asp) c.2404T>G (p.Tyr802Asp) c.1477T>G (p.Tyr493Asp) | |
20 | g.63406802A>G | CA409636977 | KCNQ2 | c.2515T>C (p.Tyr839His) c.2461T>C (p.Tyr821His) c.1858T>C (p.Tyr620His) c.2368T>C (p.Tyr790His) c.2029T>C (p.Tyr677His) c.2377T>C (p.Tyr793His) c.2241+244T>C (n.2241+244T>C) c.2205+244T>C (n.2205+244T>C) c.2407T>C (p.Tyr803His) c.2133+244T>C (n.2133+244T>C) c.1680-5959T>C (n.1680-5959T>C) c.2503T>C (p.Tyr835His) c.2569T>C (p.Tyr857His) c.2566T>C (p.Tyr856His) c.2539T>C (p.Tyr847His) c.2485T>C (p.Tyr829His) c.2458T>C (p.Tyr820His) c.2443T>C (p.Tyr815His) c.2050T>C (p.Tyr684His) c.2512T>C (p.Tyr838His) c.2449T>C (p.Tyr817His) c.2446T>C (p.Tyr816His) c.2404T>C (p.Tyr802His) c.1477T>C (p.Tyr493His) | |
20 | g.63406802A>T | CA409636978 | KCNQ2 | c.2515T>A (p.Tyr839Asn) c.2461T>A (p.Tyr821Asn) c.1858T>A (p.Tyr620Asn) c.2368T>A (p.Tyr790Asn) c.2029T>A (p.Tyr677Asn) c.2377T>A (p.Tyr793Asn) c.2241+244T>A (n.2241+244T>A) c.2205+244T>A (n.2205+244T>A) c.2407T>A (p.Tyr803Asn) c.2133+244T>A (n.2133+244T>A) c.1680-5959T>A (n.1680-5959T>A) c.2503T>A (p.Tyr835Asn) c.2569T>A (p.Tyr857Asn) c.2566T>A (p.Tyr856Asn) c.2539T>A (p.Tyr847Asn) c.2485T>A (p.Tyr829Asn) c.2458T>A (p.Tyr820Asn) c.2443T>A (p.Tyr815Asn) c.2050T>A (p.Tyr684Asn) c.2512T>A (p.Tyr838Asn) c.2449T>A (p.Tyr817Asn) c.2446T>A (p.Tyr816Asn) c.2404T>A (p.Tyr802Asn) c.1477T>A (p.Tyr493Asn) | |
20 | g.63406803G>A | CA511339327 | KCNQ2 | c.2514C>T (p.Cys838=) c.2460C>T (p.Cys820=) c.1857C>T (p.Cys619=) c.2367C>T (p.Cys789=) c.2028C>T (p.Cys676=) c.2376C>T (p.Cys792=) c.2241+243C>T (n.2241+243C>T) c.2205+243C>T (n.2205+243C>T) c.2406C>T (p.Cys802=) c.2133+243C>T (n.2133+243C>T) c.1680-5960C>T (n.1680-5960C>T) c.2502C>T (p.Cys834=) c.2568C>T (p.Cys856=) c.2565C>T (p.Cys855=) c.2538C>T (p.Cys846=) c.2484C>T (p.Cys828=) c.2457C>T (p.Cys819=) c.2442C>T (p.Cys814=) c.2049C>T (p.Cys683=) c.2511C>T (p.Cys837=) c.2448C>T (p.Cys816=) c.2445C>T (p.Cys815=) c.2403C>T (p.Cys801=) c.1476C>T (p.Cys492=) | |
20 | g.63406803G>C | CA409636979 | KCNQ2 | c.2514C>G (p.Cys838Trp) c.2460C>G (p.Cys820Trp) c.1857C>G (p.Cys619Trp) c.2367C>G (p.Cys789Trp) c.2028C>G (p.Cys676Trp) c.2376C>G (p.Cys792Trp) c.2241+243C>G (n.2241+243C>G) c.2205+243C>G (n.2205+243C>G) c.2406C>G (p.Cys802Trp) c.2133+243C>G (n.2133+243C>G) c.1680-5960C>G (n.1680-5960C>G) c.2502C>G (p.Cys834Trp) c.2568C>G (p.Cys856Trp) c.2565C>G (p.Cys855Trp) c.2538C>G (p.Cys846Trp) c.2484C>G (p.Cys828Trp) c.2457C>G (p.Cys819Trp) c.2442C>G (p.Cys814Trp) c.2049C>G (p.Cys683Trp) c.2511C>G (p.Cys837Trp) c.2448C>G (p.Cys816Trp) c.2445C>G (p.Cys815Trp) c.2403C>G (p.Cys801Trp) c.1476C>G (p.Cys492Trp) | |
20 | g.63406803G>T | CA409636980 | KCNQ2 | c.2514C>A (p.Cys838Ter) c.2460C>A (p.Cys820Ter) c.1857C>A (p.Cys619Ter) c.2367C>A (p.Cys789Ter) c.2028C>A (p.Cys676Ter) c.2376C>A (p.Cys792Ter) c.2241+243C>A (n.2241+243C>A) c.2205+243C>A (n.2205+243C>A) c.2406C>A (p.Cys802Ter) c.2133+243C>A (n.2133+243C>A) c.1680-5960C>A (n.1680-5960C>A) c.2502C>A (p.Cys834Ter) c.2568C>A (p.Cys856Ter) c.2565C>A (p.Cys855Ter) c.2538C>A (p.Cys846Ter) c.2484C>A (p.Cys828Ter) c.2457C>A (p.Cys819Ter) c.2442C>A (p.Cys814Ter) c.2049C>A (p.Cys683Ter) c.2511C>A (p.Cys837Ter) c.2448C>A (p.Cys816Ter) c.2445C>A (p.Cys815Ter) c.2403C>A (p.Cys801Ter) c.1476C>A (p.Cys492Ter) | |
20 | g.63406804C>A | CA409636982 | KCNQ2 | c.2513G>T (p.Cys838Phe) c.2459G>T (p.Cys820Phe) c.1856G>T (p.Cys619Phe) c.2366G>T (p.Cys789Phe) c.2027G>T (p.Cys676Phe) c.2375G>T (p.Cys792Phe) c.2241+242G>T (n.2241+242G>T) c.2205+242G>T (n.2205+242G>T) c.2405G>T (p.Cys802Phe) c.2133+242G>T (n.2133+242G>T) c.1680-5961G>T (n.1680-5961G>T) c.2501G>T (p.Cys834Phe) c.2567G>T (p.Cys856Phe) c.2564G>T (p.Cys855Phe) c.2537G>T (p.Cys846Phe) c.2483G>T (p.Cys828Phe) c.2456G>T (p.Cys819Phe) c.2441G>T (p.Cys814Phe) c.2048G>T (p.Cys683Phe) c.2510G>T (p.Cys837Phe) c.2447G>T (p.Cys816Phe) c.2444G>T (p.Cys815Phe) c.2402G>T (p.Cys801Phe) c.1475G>T (p.Cys492Phe) | |
20 | g.63406804C>G | CA409636984 | KCNQ2 | c.2513G>C (p.Cys838Ser) c.2459G>C (p.Cys820Ser) c.1856G>C (p.Cys619Ser) c.2366G>C (p.Cys789Ser) c.2027G>C (p.Cys676Ser) c.2375G>C (p.Cys792Ser) c.2241+242G>C (n.2241+242G>C) c.2205+242G>C (n.2205+242G>C) c.2405G>C (p.Cys802Ser) c.2133+242G>C (n.2133+242G>C) c.1680-5961G>C (n.1680-5961G>C) c.2501G>C (p.Cys834Ser) c.2567G>C (p.Cys856Ser) c.2564G>C (p.Cys855Ser) c.2537G>C (p.Cys846Ser) c.2483G>C (p.Cys828Ser) c.2456G>C (p.Cys819Ser) c.2441G>C (p.Cys814Ser) c.2048G>C (p.Cys683Ser) c.2510G>C (p.Cys837Ser) c.2447G>C (p.Cys816Ser) c.2444G>C (p.Cys815Ser) c.2402G>C (p.Cys801Ser) c.1475G>C (p.Cys492Ser) | |
20 | g.63406804C>T | CA409636985 | KCNQ2 | c.2513G>A (p.Cys838Tyr) c.2459G>A (p.Cys820Tyr) c.1856G>A (p.Cys619Tyr) c.2366G>A (p.Cys789Tyr) c.2027G>A (p.Cys676Tyr) c.2375G>A (p.Cys792Tyr) c.2241+242G>A (n.2241+242G>A) c.2205+242G>A (n.2205+242G>A) c.2405G>A (p.Cys802Tyr) c.2133+242G>A (n.2133+242G>A) c.1680-5961G>A (n.1680-5961G>A) c.2501G>A (p.Cys834Tyr) c.2567G>A (p.Cys856Tyr) c.2564G>A (p.Cys855Tyr) c.2537G>A (p.Cys846Tyr) c.2483G>A (p.Cys828Tyr) c.2456G>A (p.Cys819Tyr) c.2441G>A (p.Cys814Tyr) c.2048G>A (p.Cys683Tyr) c.2510G>A (p.Cys837Tyr) c.2447G>A (p.Cys816Tyr) c.2444G>A (p.Cys815Tyr) c.2402G>A (p.Cys801Tyr) c.1475G>A (p.Cys492Tyr) | |
20 | g.63406804dup | CA2842871701 | KCNQ2 | c.2513dup (p.Cys838TrpfsTer?) c.2459dup (p.Cys820TrpfsTer?) c.1856dup (p.Cys619TrpfsTer?) c.2366dup (p.Cys789TrpfsTer?) c.2027dup (p.Cys676TrpfsTer?) c.2375dup (p.Cys792TrpfsTer?) c.2241+242dup (n.2241+242dup) c.2205+242dup (n.2205+242dup) c.2405dup (p.Cys802TrpfsTer?) c.2133+242dup (n.2133+242dup) c.1680-5961dup (n.1680-5961dup) c.2501dup (p.Cys834TrpfsTer?) c.2567dup (p.Cys856TrpfsTer?) c.2564dup (p.Cys855TrpfsTer?) c.2537dup (p.Cys846TrpfsTer?) c.2483dup (p.Cys828TrpfsTer?) c.2456dup (p.Cys819TrpfsTer?) c.2441dup (p.Cys814TrpfsTer?) c.2048dup (p.Cys683TrpfsTer?) c.2510dup (p.Cys837TrpfsTer?) c.2447dup (p.Cys816TrpfsTer?) c.2444dup (p.Cys815TrpfsTer?) c.2402dup (p.Cys801TrpfsTer?) c.1475dup (p.Cys492TrpfsTer?) | |
20 | g.63406805A>C | CA409636991 | KCNQ2 | c.2512T>G (p.Cys838Gly) c.2458T>G (p.Cys820Gly) c.1855T>G (p.Cys619Gly) c.2365T>G (p.Cys789Gly) c.2026T>G (p.Cys676Gly) c.2374T>G (p.Cys792Gly) c.2241+241T>G (n.2241+241T>G) c.2205+241T>G (n.2205+241T>G) c.2404T>G (p.Cys802Gly) c.2133+241T>G (n.2133+241T>G) c.1680-5962T>G (n.1680-5962T>G) c.2500T>G (p.Cys834Gly) c.2566T>G (p.Cys856Gly) c.2563T>G (p.Cys855Gly) c.2536T>G (p.Cys846Gly) c.2482T>G (p.Cys828Gly) c.2455T>G (p.Cys819Gly) c.2440T>G (p.Cys814Gly) c.2047T>G (p.Cys683Gly) c.2509T>G (p.Cys837Gly) c.2446T>G (p.Cys816Gly) c.2443T>G (p.Cys815Gly) c.2401T>G (p.Cys801Gly) c.1474T>G (p.Cys492Gly) | |
20 | g.63406805A>G | CA409636990 | KCNQ2 | c.2512T>C (p.Cys838Arg) c.2458T>C (p.Cys820Arg) c.1855T>C (p.Cys619Arg) c.2365T>C (p.Cys789Arg) c.2026T>C (p.Cys676Arg) c.2374T>C (p.Cys792Arg) c.2241+241T>C (n.2241+241T>C) c.2205+241T>C (n.2205+241T>C) c.2404T>C (p.Cys802Arg) c.2133+241T>C (n.2133+241T>C) c.1680-5962T>C (n.1680-5962T>C) c.2500T>C (p.Cys834Arg) c.2566T>C (p.Cys856Arg) c.2563T>C (p.Cys855Arg) c.2536T>C (p.Cys846Arg) c.2482T>C (p.Cys828Arg) c.2455T>C (p.Cys819Arg) c.2440T>C (p.Cys814Arg) c.2047T>C (p.Cys683Arg) c.2509T>C (p.Cys837Arg) c.2446T>C (p.Cys816Arg) c.2443T>C (p.Cys815Arg) c.2401T>C (p.Cys801Arg) c.1474T>C (p.Cys492Arg) | |
20 | g.63406805A>T | CA409636988 | KCNQ2 | c.2512T>A (p.Cys838Ser) c.2458T>A (p.Cys820Ser) c.1855T>A (p.Cys619Ser) c.2365T>A (p.Cys789Ser) c.2026T>A (p.Cys676Ser) c.2374T>A (p.Cys792Ser) c.2241+241T>A (n.2241+241T>A) c.2205+241T>A (n.2205+241T>A) c.2404T>A (p.Cys802Ser) c.2133+241T>A (n.2133+241T>A) c.1680-5962T>A (n.1680-5962T>A) c.2500T>A (p.Cys834Ser) c.2566T>A (p.Cys856Ser) c.2563T>A (p.Cys855Ser) c.2536T>A (p.Cys846Ser) c.2482T>A (p.Cys828Ser) c.2455T>A (p.Cys819Ser) c.2440T>A (p.Cys814Ser) c.2047T>A (p.Cys683Ser) c.2509T>A (p.Cys837Ser) c.2446T>A (p.Cys816Ser) c.2443T>A (p.Cys815Ser) c.2401T>A (p.Cys801Ser) c.1474T>A (p.Cys492Ser) | |
20 | g.63406806G>A | CA511339330 | KCNQ2 | c.2511C>T (p.Ser837=) c.2457C>T (p.Ser819=) c.1854C>T (p.Ser618=) c.2364C>T (p.Ser788=) c.2025C>T (p.Ser675=) c.2373C>T (p.Ser791=) c.2241+240C>T (n.2241+240C>T) c.2205+240C>T (n.2205+240C>T) c.2403C>T (p.Ser801=) c.2133+240C>T (n.2133+240C>T) c.1680-5963C>T (n.1680-5963C>T) c.2499C>T (p.Ser833=) c.2565C>T (p.Ser855=) c.2562C>T (p.Ser854=) c.2535C>T (p.Ser845=) c.2481C>T (p.Ser827=) c.2454C>T (p.Ser818=) c.2439C>T (p.Ser813=) c.2046C>T (p.Ser682=) c.2508C>T (p.Ser836=) c.2445C>T (p.Ser815=) c.2442C>T (p.Ser814=) c.2400C>T (p.Ser800=) c.1473C>T (p.Ser491=) | |
20 | g.63406806G>C | CA409636994 | KCNQ2 | c.2511C>G (p.Ser837Arg) c.2457C>G (p.Ser819Arg) c.1854C>G (p.Ser618Arg) c.2364C>G (p.Ser788Arg) c.2025C>G (p.Ser675Arg) c.2373C>G (p.Ser791Arg) c.2241+240C>G (n.2241+240C>G) c.2205+240C>G (n.2205+240C>G) c.2403C>G (p.Ser801Arg) c.2133+240C>G (n.2133+240C>G) c.1680-5963C>G (n.1680-5963C>G) c.2499C>G (p.Ser833Arg) c.2565C>G (p.Ser855Arg) c.2562C>G (p.Ser854Arg) c.2535C>G (p.Ser845Arg) c.2481C>G (p.Ser827Arg) c.2454C>G (p.Ser818Arg) c.2439C>G (p.Ser813Arg) c.2046C>G (p.Ser682Arg) c.2508C>G (p.Ser836Arg) c.2445C>G (p.Ser815Arg) c.2442C>G (p.Ser814Arg) c.2400C>G (p.Ser800Arg) c.1473C>G (p.Ser491Arg) | |
20 | g.63406806G>T | CA409636996 | KCNQ2 | c.2511C>A (p.Ser837Arg) c.2457C>A (p.Ser819Arg) c.1854C>A (p.Ser618Arg) c.2364C>A (p.Ser788Arg) c.2025C>A (p.Ser675Arg) c.2373C>A (p.Ser791Arg) c.2241+240C>A (n.2241+240C>A) c.2205+240C>A (n.2205+240C>A) c.2403C>A (p.Ser801Arg) c.2133+240C>A (n.2133+240C>A) c.1680-5963C>A (n.1680-5963C>A) c.2499C>A (p.Ser833Arg) c.2565C>A (p.Ser855Arg) c.2562C>A (p.Ser854Arg) c.2535C>A (p.Ser845Arg) c.2481C>A (p.Ser827Arg) c.2454C>A (p.Ser818Arg) c.2439C>A (p.Ser813Arg) c.2046C>A (p.Ser682Arg) c.2508C>A (p.Ser836Arg) c.2445C>A (p.Ser815Arg) c.2442C>A (p.Ser814Arg) c.2400C>A (p.Ser800Arg) c.1473C>A (p.Ser491Arg) | gnomAD v4 |
20 | g.63406807C>A | CA409636999 | KCNQ2 | c.2510G>T (p.Ser837Ile) c.2456G>T (p.Ser819Ile) c.1853G>T (p.Ser618Ile) c.2363G>T (p.Ser788Ile) c.2024G>T (p.Ser675Ile) c.2372G>T (p.Ser791Ile) c.2241+239G>T (n.2241+239G>T) c.2205+239G>T (n.2205+239G>T) c.2402G>T (p.Ser801Ile) c.2133+239G>T (n.2133+239G>T) c.1680-5964G>T (n.1680-5964G>T) c.2498G>T (p.Ser833Ile) c.2564G>T (p.Ser855Ile) c.2561G>T (p.Ser854Ile) c.2534G>T (p.Ser845Ile) c.2480G>T (p.Ser827Ile) c.2453G>T (p.Ser818Ile) c.2438G>T (p.Ser813Ile) c.2045G>T (p.Ser682Ile) c.2507G>T (p.Ser836Ile) c.2444G>T (p.Ser815Ile) c.2441G>T (p.Ser814Ile) c.2399G>T (p.Ser800Ile) c.1472G>T (p.Ser491Ile) | |
20 | g.63406807C>G | CA409637002 | KCNQ2 | c.2510G>C (p.Ser837Thr) c.2456G>C (p.Ser819Thr) c.1853G>C (p.Ser618Thr) c.2363G>C (p.Ser788Thr) c.2024G>C (p.Ser675Thr) c.2372G>C (p.Ser791Thr) c.2241+239G>C (n.2241+239G>C) c.2205+239G>C (n.2205+239G>C) c.2402G>C (p.Ser801Thr) c.2133+239G>C (n.2133+239G>C) c.1680-5964G>C (n.1680-5964G>C) c.2498G>C (p.Ser833Thr) c.2564G>C (p.Ser855Thr) c.2561G>C (p.Ser854Thr) c.2534G>C (p.Ser845Thr) c.2480G>C (p.Ser827Thr) c.2453G>C (p.Ser818Thr) c.2438G>C (p.Ser813Thr) c.2045G>C (p.Ser682Thr) c.2507G>C (p.Ser836Thr) c.2444G>C (p.Ser815Thr) c.2441G>C (p.Ser814Thr) c.2399G>C (p.Ser800Thr) c.1472G>C (p.Ser491Thr) | |
20 | g.63406807C>T | CA409637000 | KCNQ2 | c.2510G>A (p.Ser837Asn) c.2456G>A (p.Ser819Asn) c.1853G>A (p.Ser618Asn) c.2363G>A (p.Ser788Asn) c.2024G>A (p.Ser675Asn) c.2372G>A (p.Ser791Asn) c.2241+239G>A (n.2241+239G>A) c.2205+239G>A (n.2205+239G>A) c.2402G>A (p.Ser801Asn) c.2133+239G>A (n.2133+239G>A) c.1680-5964G>A (n.1680-5964G>A) c.2498G>A (p.Ser833Asn) c.2564G>A (p.Ser855Asn) c.2561G>A (p.Ser854Asn) c.2534G>A (p.Ser845Asn) c.2480G>A (p.Ser827Asn) c.2453G>A (p.Ser818Asn) c.2438G>A (p.Ser813Asn) c.2045G>A (p.Ser682Asn) c.2507G>A (p.Ser836Asn) c.2444G>A (p.Ser815Asn) c.2441G>A (p.Ser814Asn) c.2399G>A (p.Ser800Asn) c.1472G>A (p.Ser491Asn) | gnomAD v4 |
20 | g.63406808T>A | CA409637005 | KCNQ2 | c.2509A>T (p.Ser837Cys) c.2455A>T (p.Ser819Cys) c.1852A>T (p.Ser618Cys) c.2362A>T (p.Ser788Cys) c.2023A>T (p.Ser675Cys) c.2371A>T (p.Ser791Cys) c.2241+238A>T (n.2241+238A>T) c.2205+238A>T (n.2205+238A>T) c.2401A>T (p.Ser801Cys) c.2133+238A>T (n.2133+238A>T) c.1680-5965A>T (n.1680-5965A>T) c.2497A>T (p.Ser833Cys) c.2563A>T (p.Ser855Cys) c.2560A>T (p.Ser854Cys) c.2533A>T (p.Ser845Cys) c.2479A>T (p.Ser827Cys) c.2452A>T (p.Ser818Cys) c.2437A>T (p.Ser813Cys) c.2044A>T (p.Ser682Cys) c.2506A>T (p.Ser836Cys) c.2443A>T (p.Ser815Cys) c.2440A>T (p.Ser814Cys) c.2398A>T (p.Ser800Cys) c.1471A>T (p.Ser491Cys) | |
20 | g.63406808T>C | CA409637007 | KCNQ2 | c.2509A>G (p.Ser837Gly) c.2455A>G (p.Ser819Gly) c.1852A>G (p.Ser618Gly) c.2362A>G (p.Ser788Gly) c.2023A>G (p.Ser675Gly) c.2371A>G (p.Ser791Gly) c.2241+238A>G (n.2241+238A>G) c.2205+238A>G (n.2205+238A>G) c.2401A>G (p.Ser801Gly) c.2133+238A>G (n.2133+238A>G) c.1680-5965A>G (n.1680-5965A>G) c.2497A>G (p.Ser833Gly) c.2563A>G (p.Ser855Gly) c.2560A>G (p.Ser854Gly) c.2533A>G (p.Ser845Gly) c.2479A>G (p.Ser827Gly) c.2452A>G (p.Ser818Gly) c.2437A>G (p.Ser813Gly) c.2044A>G (p.Ser682Gly) c.2506A>G (p.Ser836Gly) c.2443A>G (p.Ser815Gly) c.2440A>G (p.Ser814Gly) c.2398A>G (p.Ser800Gly) c.1471A>G (p.Ser491Gly) | |
20 | g.63406808T>G | CA409637009 | KCNQ2 | c.2509A>C (p.Ser837Arg) c.2455A>C (p.Ser819Arg) c.1852A>C (p.Ser618Arg) c.2362A>C (p.Ser788Arg) c.2023A>C (p.Ser675Arg) c.2371A>C (p.Ser791Arg) c.2241+238A>C (n.2241+238A>C) c.2205+238A>C (n.2205+238A>C) c.2401A>C (p.Ser801Arg) c.2133+238A>C (n.2133+238A>C) c.1680-5965A>C (n.1680-5965A>C) c.2497A>C (p.Ser833Arg) c.2563A>C (p.Ser855Arg) c.2560A>C (p.Ser854Arg) c.2533A>C (p.Ser845Arg) c.2479A>C (p.Ser827Arg) c.2452A>C (p.Ser818Arg) c.2437A>C (p.Ser813Arg) c.2044A>C (p.Ser682Arg) c.2506A>C (p.Ser836Arg) c.2443A>C (p.Ser815Arg) c.2440A>C (p.Ser814Arg) c.2398A>C (p.Ser800Arg) c.1471A>C (p.Ser491Arg) | |
20 | g.63406809G>A | CA9958076 | KCNQ2 | c.2508C>T (p.Asn836=) c.2454C>T (p.Asn818=) c.1851C>T (p.Asn617=) c.2361C>T (p.Asn787=) c.2022C>T (p.Asn674=) c.2370C>T (p.Asn790=) c.2241+237C>T (n.2241+237C>T) c.2205+237C>T (n.2205+237C>T) c.2400C>T (p.Asn800=) c.2133+237C>T (n.2133+237C>T) c.1680-5966C>T (n.1680-5966C>T) c.2496C>T (p.Asn832=) c.2562C>T (p.Asn854=) c.2559C>T (p.Asn853=) c.2532C>T (p.Asn844=) c.2478C>T (p.Asn826=) c.2451C>T (p.Asn817=) c.2436C>T (p.Asn812=) c.2043C>T (p.Asn681=) c.2505C>T (p.Asn835=) c.2442C>T (p.Asn814=) c.2439C>T (p.Asn813=) c.2397C>T (p.Asn799=) c.1470C>T (p.Asn490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406809G>C | CA409637010 | KCNQ2 | c.2508C>G (p.Asn836Lys) c.2454C>G (p.Asn818Lys) c.1851C>G (p.Asn617Lys) c.2361C>G (p.Asn787Lys) c.2022C>G (p.Asn674Lys) c.2370C>G (p.Asn790Lys) c.2241+237C>G (n.2241+237C>G) c.2205+237C>G (n.2205+237C>G) c.2400C>G (p.Asn800Lys) c.2133+237C>G (n.2133+237C>G) c.1680-5966C>G (n.1680-5966C>G) c.2496C>G (p.Asn832Lys) c.2562C>G (p.Asn854Lys) c.2559C>G (p.Asn853Lys) c.2532C>G (p.Asn844Lys) c.2478C>G (p.Asn826Lys) c.2451C>G (p.Asn817Lys) c.2436C>G (p.Asn812Lys) c.2043C>G (p.Asn681Lys) c.2505C>G (p.Asn835Lys) c.2442C>G (p.Asn814Lys) c.2439C>G (p.Asn813Lys) c.2397C>G (p.Asn799Lys) c.1470C>G (p.Asn490Lys) | gnomAD v4 |
20 | g.63406809G= | CA2374774255 | KCNQ2 | c.2508C= (p.Asn836=) c.2454C= (p.Asn818=) c.1851C= (p.Asn617=) c.2361C= (p.Asn787=) c.2022C= (p.Asn674=) c.2370C= (p.Asn790=) c.2241+237C= (n.2241+237C=) c.2205+237C= (n.2205+237C=) c.2400C= (p.Asn800=) c.2133+237C= (n.2133+237C=) c.1680-5966C= (n.1680-5966C=) c.2496C= (p.Asn832=) c.2562C= (p.Asn854=) c.2559C= (p.Asn853=) c.2532C= (p.Asn844=) c.2478C= (p.Asn826=) c.2451C= (p.Asn817=) c.2436C= (p.Asn812=) c.2043C= (p.Asn681=) c.2505C= (p.Asn835=) c.2442C= (p.Asn814=) c.2439C= (p.Asn813=) c.2397C= (p.Asn799=) c.1470C= (p.Asn490=) | |
20 | g.63406809G>T | CA409637012 | KCNQ2 | c.2508C>A (p.Asn836Lys) c.2454C>A (p.Asn818Lys) c.1851C>A (p.Asn617Lys) c.2361C>A (p.Asn787Lys) c.2022C>A (p.Asn674Lys) c.2370C>A (p.Asn790Lys) c.2241+237C>A (n.2241+237C>A) c.2205+237C>A (n.2205+237C>A) c.2400C>A (p.Asn800Lys) c.2133+237C>A (n.2133+237C>A) c.1680-5966C>A (n.1680-5966C>A) c.2496C>A (p.Asn832Lys) c.2562C>A (p.Asn854Lys) c.2559C>A (p.Asn853Lys) c.2532C>A (p.Asn844Lys) c.2478C>A (p.Asn826Lys) c.2451C>A (p.Asn817Lys) c.2436C>A (p.Asn812Lys) c.2043C>A (p.Asn681Lys) c.2505C>A (p.Asn835Lys) c.2442C>A (p.Asn814Lys) c.2439C>A (p.Asn813Lys) c.2397C>A (p.Asn799Lys) c.1470C>A (p.Asn490Lys) | |
20 | g.63406810T>A | CA409637017 | KCNQ2 | c.2507A>T (p.Asn836Ile) c.2453A>T (p.Asn818Ile) c.1850A>T (p.Asn617Ile) c.2360A>T (p.Asn787Ile) c.2021A>T (p.Asn674Ile) c.2369A>T (p.Asn790Ile) c.2241+236A>T (n.2241+236A>T) c.2205+236A>T (n.2205+236A>T) c.2399A>T (p.Asn800Ile) c.2133+236A>T (n.2133+236A>T) c.1680-5967A>T (n.1680-5967A>T) c.2495A>T (p.Asn832Ile) c.2561A>T (p.Asn854Ile) c.2558A>T (p.Asn853Ile) c.2531A>T (p.Asn844Ile) c.2477A>T (p.Asn826Ile) c.2450A>T (p.Asn817Ile) c.2435A>T (p.Asn812Ile) c.2042A>T (p.Asn681Ile) c.2504A>T (p.Asn835Ile) c.2441A>T (p.Asn814Ile) c.2438A>T (p.Asn813Ile) c.2396A>T (p.Asn799Ile) c.1469A>T (p.Asn490Ile) | |
20 | g.63406810T>C | CA409637015 | KCNQ2 | c.2507A>G (p.Asn836Ser) c.2453A>G (p.Asn818Ser) c.1850A>G (p.Asn617Ser) c.2360A>G (p.Asn787Ser) c.2021A>G (p.Asn674Ser) c.2369A>G (p.Asn790Ser) c.2241+236A>G (n.2241+236A>G) c.2205+236A>G (n.2205+236A>G) c.2399A>G (p.Asn800Ser) c.2133+236A>G (n.2133+236A>G) c.1680-5967A>G (n.1680-5967A>G) c.2495A>G (p.Asn832Ser) c.2561A>G (p.Asn854Ser) c.2558A>G (p.Asn853Ser) c.2531A>G (p.Asn844Ser) c.2477A>G (p.Asn826Ser) c.2450A>G (p.Asn817Ser) c.2435A>G (p.Asn812Ser) c.2042A>G (p.Asn681Ser) c.2504A>G (p.Asn835Ser) c.2441A>G (p.Asn814Ser) c.2438A>G (p.Asn813Ser) c.2396A>G (p.Asn799Ser) c.1469A>G (p.Asn490Ser) | |
20 | g.63406810T>G | CA409637014 | KCNQ2 | c.2507A>C (p.Asn836Thr) c.2453A>C (p.Asn818Thr) c.1850A>C (p.Asn617Thr) c.2360A>C (p.Asn787Thr) c.2021A>C (p.Asn674Thr) c.2369A>C (p.Asn790Thr) c.2241+236A>C (n.2241+236A>C) c.2205+236A>C (n.2205+236A>C) c.2399A>C (p.Asn800Thr) c.2133+236A>C (n.2133+236A>C) c.1680-5967A>C (n.1680-5967A>C) c.2495A>C (p.Asn832Thr) c.2561A>C (p.Asn854Thr) c.2558A>C (p.Asn853Thr) c.2531A>C (p.Asn844Thr) c.2477A>C (p.Asn826Thr) c.2450A>C (p.Asn817Thr) c.2435A>C (p.Asn812Thr) c.2042A>C (p.Asn681Thr) c.2504A>C (p.Asn835Thr) c.2441A>C (p.Asn814Thr) c.2438A>C (p.Asn813Thr) c.2396A>C (p.Asn799Thr) c.1469A>C (p.Asn490Thr) | |
20 | g.63406811T>A | CA409637018 | KCNQ2 | c.2506A>T (p.Asn836Tyr) c.2452A>T (p.Asn818Tyr) c.1849A>T (p.Asn617Tyr) c.2359A>T (p.Asn787Tyr) c.2020A>T (p.Asn674Tyr) c.2368A>T (p.Asn790Tyr) c.2241+235A>T (n.2241+235A>T) c.2205+235A>T (n.2205+235A>T) c.2398A>T (p.Asn800Tyr) c.2133+235A>T (n.2133+235A>T) c.1680-5968A>T (n.1680-5968A>T) c.2494A>T (p.Asn832Tyr) c.2560A>T (p.Asn854Tyr) c.2557A>T (p.Asn853Tyr) c.2530A>T (p.Asn844Tyr) c.2476A>T (p.Asn826Tyr) c.2449A>T (p.Asn817Tyr) c.2434A>T (p.Asn812Tyr) c.2041A>T (p.Asn681Tyr) c.2503A>T (p.Asn835Tyr) c.2440A>T (p.Asn814Tyr) c.2437A>T (p.Asn813Tyr) c.2395A>T (p.Asn799Tyr) c.1468A>T (p.Asn490Tyr) | |
20 | g.63406811T>C | CA409637020 | KCNQ2 | c.2506A>G (p.Asn836Asp) c.2452A>G (p.Asn818Asp) c.1849A>G (p.Asn617Asp) c.2359A>G (p.Asn787Asp) c.2020A>G (p.Asn674Asp) c.2368A>G (p.Asn790Asp) c.2241+235A>G (n.2241+235A>G) c.2205+235A>G (n.2205+235A>G) c.2398A>G (p.Asn800Asp) c.2133+235A>G (n.2133+235A>G) c.1680-5968A>G (n.1680-5968A>G) c.2494A>G (p.Asn832Asp) c.2560A>G (p.Asn854Asp) c.2557A>G (p.Asn853Asp) c.2530A>G (p.Asn844Asp) c.2476A>G (p.Asn826Asp) c.2449A>G (p.Asn817Asp) c.2434A>G (p.Asn812Asp) c.2041A>G (p.Asn681Asp) c.2503A>G (p.Asn835Asp) c.2440A>G (p.Asn814Asp) c.2437A>G (p.Asn813Asp) c.2395A>G (p.Asn799Asp) c.1468A>G (p.Asn490Asp) | |
20 | g.63406811T>G | CA409637022 | KCNQ2 | c.2506A>C (p.Asn836His) c.2452A>C (p.Asn818His) c.1849A>C (p.Asn617His) c.2359A>C (p.Asn787His) c.2020A>C (p.Asn674His) c.2368A>C (p.Asn790His) c.2241+235A>C (n.2241+235A>C) c.2205+235A>C (n.2205+235A>C) c.2398A>C (p.Asn800His) c.2133+235A>C (n.2133+235A>C) c.1680-5968A>C (n.1680-5968A>C) c.2494A>C (p.Asn832His) c.2560A>C (p.Asn854His) c.2557A>C (p.Asn853His) c.2530A>C (p.Asn844His) c.2476A>C (p.Asn826His) c.2449A>C (p.Asn817His) c.2434A>C (p.Asn812His) c.2041A>C (p.Asn681His) c.2503A>C (p.Asn835His) c.2440A>C (p.Asn814His) c.2437A>C (p.Asn813His) c.2395A>C (p.Asn799His) c.1468A>C (p.Asn490His) | gnomAD v4 |
20 | g.63406812G>A | CA511339340 | KCNQ2 | c.2505C>T (p.Leu835=) c.2451C>T (p.Leu817=) c.1848C>T (p.Leu616=) c.2358C>T (p.Leu786=) c.2019C>T (p.Leu673=) c.2367C>T (p.Leu789=) c.2241+234C>T (n.2241+234C>T) c.2205+234C>T (n.2205+234C>T) c.2397C>T (p.Leu799=) c.2133+234C>T (n.2133+234C>T) c.1680-5969C>T (n.1680-5969C>T) c.2493C>T (p.Leu831=) c.2559C>T (p.Leu853=) c.2556C>T (p.Leu852=) c.2529C>T (p.Leu843=) c.2475C>T (p.Leu825=) c.2448C>T (p.Leu816=) c.2433C>T (p.Leu811=) c.2040C>T (p.Leu680=) c.2502C>T (p.Leu834=) c.2439C>T (p.Leu813=) c.2436C>T (p.Leu812=) c.2394C>T (p.Leu798=) c.1467C>T (p.Leu489=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406812G>C | CA511339341 | KCNQ2 | c.2505C>G (p.Leu835=) c.2451C>G (p.Leu817=) c.1848C>G (p.Leu616=) c.2358C>G (p.Leu786=) c.2019C>G (p.Leu673=) c.2367C>G (p.Leu789=) c.2241+234C>G (n.2241+234C>G) c.2205+234C>G (n.2205+234C>G) c.2397C>G (p.Leu799=) c.2133+234C>G (n.2133+234C>G) c.1680-5969C>G (n.1680-5969C>G) c.2493C>G (p.Leu831=) c.2559C>G (p.Leu853=) c.2556C>G (p.Leu852=) c.2529C>G (p.Leu843=) c.2475C>G (p.Leu825=) c.2448C>G (p.Leu816=) c.2433C>G (p.Leu811=) c.2040C>G (p.Leu680=) c.2502C>G (p.Leu834=) c.2439C>G (p.Leu813=) c.2436C>G (p.Leu812=) c.2394C>G (p.Leu798=) c.1467C>G (p.Leu489=) | |
20 | g.63406812G= | CA2374774256 | KCNQ2 | c.2505C= (p.Leu835=) c.2451C= (p.Leu817=) c.1848C= (p.Leu616=) c.2358C= (p.Leu786=) c.2019C= (p.Leu673=) c.2367C= (p.Leu789=) c.2241+234C= (n.2241+234C=) c.2205+234C= (n.2205+234C=) c.2397C= (p.Leu799=) c.2133+234C= (n.2133+234C=) c.1680-5969C= (n.1680-5969C=) c.2493C= (p.Leu831=) c.2559C= (p.Leu853=) c.2556C= (p.Leu852=) c.2529C= (p.Leu843=) c.2475C= (p.Leu825=) c.2448C= (p.Leu816=) c.2433C= (p.Leu811=) c.2040C= (p.Leu680=) c.2502C= (p.Leu834=) c.2439C= (p.Leu813=) c.2436C= (p.Leu812=) c.2394C= (p.Leu798=) c.1467C= (p.Leu489=) | |
20 | g.63406812G>T | CA511339344 | KCNQ2 | c.2505C>A (p.Leu835=) c.2451C>A (p.Leu817=) c.1848C>A (p.Leu616=) c.2358C>A (p.Leu786=) c.2019C>A (p.Leu673=) c.2367C>A (p.Leu789=) c.2241+234C>A (n.2241+234C>A) c.2205+234C>A (n.2205+234C>A) c.2397C>A (p.Leu799=) c.2133+234C>A (n.2133+234C>A) c.1680-5969C>A (n.1680-5969C>A) c.2493C>A (p.Leu831=) c.2559C>A (p.Leu853=) c.2556C>A (p.Leu852=) c.2529C>A (p.Leu843=) c.2475C>A (p.Leu825=) c.2448C>A (p.Leu816=) c.2433C>A (p.Leu811=) c.2040C>A (p.Leu680=) c.2502C>A (p.Leu834=) c.2439C>A (p.Leu813=) c.2436C>A (p.Leu812=) c.2394C>A (p.Leu798=) c.1467C>A (p.Leu489=) | |
20 | g.63406813A= | CA2374774257 | KCNQ2 | c.2504T= (p.Leu835=) c.2450T= (p.Leu817=) c.1847T= (p.Leu616=) c.2357T= (p.Leu786=) c.2018T= (p.Leu673=) c.2366T= (p.Leu789=) c.2241+233T= (n.2241+233T=) c.2205+233T= (n.2205+233T=) c.2396T= (p.Leu799=) c.2133+233T= (n.2133+233T=) c.1680-5970T= (n.1680-5970T=) c.2492T= (p.Leu831=) c.2558T= (p.Leu853=) c.2555T= (p.Leu852=) c.2528T= (p.Leu843=) c.2474T= (p.Leu825=) c.2447T= (p.Leu816=) c.2432T= (p.Leu811=) c.2039T= (p.Leu680=) c.2501T= (p.Leu834=) c.2438T= (p.Leu813=) c.2435T= (p.Leu812=) c.2393T= (p.Leu798=) c.1466T= (p.Leu489=) | |
20 | g.63406813A>C | CA409637024 | KCNQ2 | c.2504T>G (p.Leu835Arg) c.2450T>G (p.Leu817Arg) c.1847T>G (p.Leu616Arg) c.2357T>G (p.Leu786Arg) c.2018T>G (p.Leu673Arg) c.2366T>G (p.Leu789Arg) c.2241+233T>G (n.2241+233T>G) c.2205+233T>G (n.2205+233T>G) c.2396T>G (p.Leu799Arg) c.2133+233T>G (n.2133+233T>G) c.1680-5970T>G (n.1680-5970T>G) c.2492T>G (p.Leu831Arg) c.2558T>G (p.Leu853Arg) c.2555T>G (p.Leu852Arg) c.2528T>G (p.Leu843Arg) c.2474T>G (p.Leu825Arg) c.2447T>G (p.Leu816Arg) c.2432T>G (p.Leu811Arg) c.2039T>G (p.Leu680Arg) c.2501T>G (p.Leu834Arg) c.2438T>G (p.Leu813Arg) c.2435T>G (p.Leu812Arg) c.2393T>G (p.Leu798Arg) c.1466T>G (p.Leu489Arg) | |
20 | g.63406813A>G | CA409637026 | KCNQ2 | c.2504T>C (p.Leu835Pro) c.2450T>C (p.Leu817Pro) c.1847T>C (p.Leu616Pro) c.2357T>C (p.Leu786Pro) c.2018T>C (p.Leu673Pro) c.2366T>C (p.Leu789Pro) c.2241+233T>C (n.2241+233T>C) c.2205+233T>C (n.2205+233T>C) c.2396T>C (p.Leu799Pro) c.2133+233T>C (n.2133+233T>C) c.1680-5970T>C (n.1680-5970T>C) c.2492T>C (p.Leu831Pro) c.2558T>C (p.Leu853Pro) c.2555T>C (p.Leu852Pro) c.2528T>C (p.Leu843Pro) c.2474T>C (p.Leu825Pro) c.2447T>C (p.Leu816Pro) c.2432T>C (p.Leu811Pro) c.2039T>C (p.Leu680Pro) c.2501T>C (p.Leu834Pro) c.2438T>C (p.Leu813Pro) c.2435T>C (p.Leu812Pro) c.2393T>C (p.Leu798Pro) c.1466T>C (p.Leu489Pro) | dbSNP |
20 | g.63406813A>T | CA409637028 | KCNQ2 | c.2504T>A (p.Leu835His) c.2450T>A (p.Leu817His) c.1847T>A (p.Leu616His) c.2357T>A (p.Leu786His) c.2018T>A (p.Leu673His) c.2366T>A (p.Leu789His) c.2241+233T>A (n.2241+233T>A) c.2205+233T>A (n.2205+233T>A) c.2396T>A (p.Leu799His) c.2133+233T>A (n.2133+233T>A) c.1680-5970T>A (n.1680-5970T>A) c.2492T>A (p.Leu831His) c.2558T>A (p.Leu853His) c.2555T>A (p.Leu852His) c.2528T>A (p.Leu843His) c.2474T>A (p.Leu825His) c.2447T>A (p.Leu816His) c.2432T>A (p.Leu811His) c.2039T>A (p.Leu680His) c.2501T>A (p.Leu834His) c.2438T>A (p.Leu813His) c.2435T>A (p.Leu812His) c.2393T>A (p.Leu798His) c.1466T>A (p.Leu489His) | |
20 | g.63406814G>A | CA409637031 | KCNQ2 | c.2503C>T (p.Leu835Phe) c.2449C>T (p.Leu817Phe) c.1846C>T (p.Leu616Phe) c.2356C>T (p.Leu786Phe) c.2017C>T (p.Leu673Phe) c.2365C>T (p.Leu789Phe) c.2241+232C>T (n.2241+232C>T) c.2205+232C>T (n.2205+232C>T) c.2395C>T (p.Leu799Phe) c.2133+232C>T (n.2133+232C>T) c.1680-5971C>T (n.1680-5971C>T) c.2491C>T (p.Leu831Phe) c.2557C>T (p.Leu853Phe) c.2554C>T (p.Leu852Phe) c.2527C>T (p.Leu843Phe) c.2473C>T (p.Leu825Phe) c.2446C>T (p.Leu816Phe) c.2431C>T (p.Leu811Phe) c.2038C>T (p.Leu680Phe) c.2500C>T (p.Leu834Phe) c.2437C>T (p.Leu813Phe) c.2434C>T (p.Leu812Phe) c.2392C>T (p.Leu798Phe) c.1465C>T (p.Leu489Phe) | |
20 | g.63406814G>C | CA409637035 | KCNQ2 | c.2503C>G (p.Leu835Val) c.2449C>G (p.Leu817Val) c.1846C>G (p.Leu616Val) c.2356C>G (p.Leu786Val) c.2017C>G (p.Leu673Val) c.2365C>G (p.Leu789Val) c.2241+232C>G (n.2241+232C>G) c.2205+232C>G (n.2205+232C>G) c.2395C>G (p.Leu799Val) c.2133+232C>G (n.2133+232C>G) c.1680-5971C>G (n.1680-5971C>G) c.2491C>G (p.Leu831Val) c.2557C>G (p.Leu853Val) c.2554C>G (p.Leu852Val) c.2527C>G (p.Leu843Val) c.2473C>G (p.Leu825Val) c.2446C>G (p.Leu816Val) c.2431C>G (p.Leu811Val) c.2038C>G (p.Leu680Val) c.2500C>G (p.Leu834Val) c.2437C>G (p.Leu813Val) c.2434C>G (p.Leu812Val) c.2392C>G (p.Leu798Val) c.1465C>G (p.Leu489Val) | gnomAD v4 |
20 | g.63406814G>T | CA409637032 | KCNQ2 | c.2503C>A (p.Leu835Ile) c.2449C>A (p.Leu817Ile) c.1846C>A (p.Leu616Ile) c.2356C>A (p.Leu786Ile) c.2017C>A (p.Leu673Ile) c.2365C>A (p.Leu789Ile) c.2241+232C>A (n.2241+232C>A) c.2205+232C>A (n.2205+232C>A) c.2395C>A (p.Leu799Ile) c.2133+232C>A (n.2133+232C>A) c.1680-5971C>A (n.1680-5971C>A) c.2491C>A (p.Leu831Ile) c.2557C>A (p.Leu853Ile) c.2554C>A (p.Leu852Ile) c.2527C>A (p.Leu843Ile) c.2473C>A (p.Leu825Ile) c.2446C>A (p.Leu816Ile) c.2431C>A (p.Leu811Ile) c.2038C>A (p.Leu680Ile) c.2500C>A (p.Leu834Ile) c.2437C>A (p.Leu813Ile) c.2434C>A (p.Leu812Ile) c.2392C>A (p.Leu798Ile) c.1465C>A (p.Leu489Ile) | |
20 | g.63406815A>C | CA511339347 | KCNQ2 | c.2502T>G (p.Ala834=) c.2448T>G (p.Ala816=) c.1845T>G (p.Ala615=) c.2355T>G (p.Ala785=) c.2016T>G (p.Ala672=) c.2364T>G (p.Ala788=) c.2241+231T>G (n.2241+231T>G) c.2205+231T>G (n.2205+231T>G) c.2394T>G (p.Ala798=) c.2133+231T>G (n.2133+231T>G) c.1680-5972T>G (n.1680-5972T>G) c.2490T>G (p.Ala830=) c.2556T>G (p.Ala852=) c.2553T>G (p.Ala851=) c.2526T>G (p.Ala842=) c.2472T>G (p.Ala824=) c.2445T>G (p.Ala815=) c.2430T>G (p.Ala810=) c.2037T>G (p.Ala679=) c.2499T>G (p.Ala833=) c.2436T>G (p.Ala812=) c.2433T>G (p.Ala811=) c.2391T>G (p.Ala797=) c.1464T>G (p.Ala488=) | |
20 | g.63406815A>G | CA511339349 | KCNQ2 | c.2502T>C (p.Ala834=) c.2448T>C (p.Ala816=) c.1845T>C (p.Ala615=) c.2355T>C (p.Ala785=) c.2016T>C (p.Ala672=) c.2364T>C (p.Ala788=) c.2241+231T>C (n.2241+231T>C) c.2205+231T>C (n.2205+231T>C) c.2394T>C (p.Ala798=) c.2133+231T>C (n.2133+231T>C) c.1680-5972T>C (n.1680-5972T>C) c.2490T>C (p.Ala830=) c.2556T>C (p.Ala852=) c.2553T>C (p.Ala851=) c.2526T>C (p.Ala842=) c.2472T>C (p.Ala824=) c.2445T>C (p.Ala815=) c.2430T>C (p.Ala810=) c.2037T>C (p.Ala679=) c.2499T>C (p.Ala833=) c.2436T>C (p.Ala812=) c.2433T>C (p.Ala811=) c.2391T>C (p.Ala797=) c.1464T>C (p.Ala488=) | |
20 | g.63406815A>T | CA511339351 | KCNQ2 | c.2502T>A (p.Ala834=) c.2448T>A (p.Ala816=) c.1845T>A (p.Ala615=) c.2355T>A (p.Ala785=) c.2016T>A (p.Ala672=) c.2364T>A (p.Ala788=) c.2241+231T>A (n.2241+231T>A) c.2205+231T>A (n.2205+231T>A) c.2394T>A (p.Ala798=) c.2133+231T>A (n.2133+231T>A) c.1680-5972T>A (n.1680-5972T>A) c.2490T>A (p.Ala830=) c.2556T>A (p.Ala852=) c.2553T>A (p.Ala851=) c.2526T>A (p.Ala842=) c.2472T>A (p.Ala824=) c.2445T>A (p.Ala815=) c.2430T>A (p.Ala810=) c.2037T>A (p.Ala679=) c.2499T>A (p.Ala833=) c.2436T>A (p.Ala812=) c.2433T>A (p.Ala811=) c.2391T>A (p.Ala797=) c.1464T>A (p.Ala488=) | |
20 | g.63406816G>A | CA409637037 | KCNQ2 | c.2501C>T (p.Ala834Val) c.2447C>T (p.Ala816Val) c.1844C>T (p.Ala615Val) c.2354C>T (p.Ala785Val) c.2015C>T (p.Ala672Val) c.2363C>T (p.Ala788Val) c.2241+230C>T (n.2241+230C>T) c.2205+230C>T (n.2205+230C>T) c.2393C>T (p.Ala798Val) c.2133+230C>T (n.2133+230C>T) c.1680-5973C>T (n.1680-5973C>T) c.2489C>T (p.Ala830Val) c.2555C>T (p.Ala852Val) c.2552C>T (p.Ala851Val) c.2525C>T (p.Ala842Val) c.2471C>T (p.Ala824Val) c.2444C>T (p.Ala815Val) c.2429C>T (p.Ala810Val) c.2036C>T (p.Ala679Val) c.2498C>T (p.Ala833Val) c.2435C>T (p.Ala812Val) c.2432C>T (p.Ala811Val) c.2390C>T (p.Ala797Val) c.1463C>T (p.Ala488Val) | gnomAD v4 |
20 | g.63406816G>C | CA409637038 | KCNQ2 | c.2501C>G (p.Ala834Gly) c.2447C>G (p.Ala816Gly) c.1844C>G (p.Ala615Gly) c.2354C>G (p.Ala785Gly) c.2015C>G (p.Ala672Gly) c.2363C>G (p.Ala788Gly) c.2241+230C>G (n.2241+230C>G) c.2205+230C>G (n.2205+230C>G) c.2393C>G (p.Ala798Gly) c.2133+230C>G (n.2133+230C>G) c.1680-5973C>G (n.1680-5973C>G) c.2489C>G (p.Ala830Gly) c.2555C>G (p.Ala852Gly) c.2552C>G (p.Ala851Gly) c.2525C>G (p.Ala842Gly) c.2471C>G (p.Ala824Gly) c.2444C>G (p.Ala815Gly) c.2429C>G (p.Ala810Gly) c.2036C>G (p.Ala679Gly) c.2498C>G (p.Ala833Gly) c.2435C>G (p.Ala812Gly) c.2432C>G (p.Ala811Gly) c.2390C>G (p.Ala797Gly) c.1463C>G (p.Ala488Gly) | |
20 | g.63406816G>T | CA409637040 | KCNQ2 | c.2501C>A (p.Ala834Asp) c.2447C>A (p.Ala816Asp) c.1844C>A (p.Ala615Asp) c.2354C>A (p.Ala785Asp) c.2015C>A (p.Ala672Asp) c.2363C>A (p.Ala788Asp) c.2241+230C>A (n.2241+230C>A) c.2205+230C>A (n.2205+230C>A) c.2393C>A (p.Ala798Asp) c.2133+230C>A (n.2133+230C>A) c.1680-5973C>A (n.1680-5973C>A) c.2489C>A (p.Ala830Asp) c.2555C>A (p.Ala852Asp) c.2552C>A (p.Ala851Asp) c.2525C>A (p.Ala842Asp) c.2471C>A (p.Ala824Asp) c.2444C>A (p.Ala815Asp) c.2429C>A (p.Ala810Asp) c.2036C>A (p.Ala679Asp) c.2498C>A (p.Ala833Asp) c.2435C>A (p.Ala812Asp) c.2432C>A (p.Ala811Asp) c.2390C>A (p.Ala797Asp) c.1463C>A (p.Ala488Asp) | |
20 | g.63406817C>A | CA409637042 | KCNQ2 | c.2500G>T (p.Ala834Ser) c.2446G>T (p.Ala816Ser) c.1843G>T (p.Ala615Ser) c.2353G>T (p.Ala785Ser) c.2014G>T (p.Ala672Ser) c.2362G>T (p.Ala788Ser) c.2241+229G>T (n.2241+229G>T) c.2205+229G>T (n.2205+229G>T) c.2392G>T (p.Ala798Ser) c.2133+229G>T (n.2133+229G>T) c.1680-5974G>T (n.1680-5974G>T) c.2488G>T (p.Ala830Ser) c.2554G>T (p.Ala852Ser) c.2551G>T (p.Ala851Ser) c.2524G>T (p.Ala842Ser) c.2470G>T (p.Ala824Ser) c.2443G>T (p.Ala815Ser) c.2428G>T (p.Ala810Ser) c.2035G>T (p.Ala679Ser) c.2497G>T (p.Ala833Ser) c.2434G>T (p.Ala812Ser) c.2431G>T (p.Ala811Ser) c.2389G>T (p.Ala797Ser) c.1462G>T (p.Ala488Ser) | ClinVar dbSNP gnomAD v4 |
20 | g.63406817C= | CA2374774258 | KCNQ2 | c.2500G= (p.Ala834=) c.2446G= (p.Ala816=) c.1843G= (p.Ala615=) c.2353G= (p.Ala785=) c.2014G= (p.Ala672=) c.2362G= (p.Ala788=) c.2241+229G= (n.2241+229G=) c.2205+229G= (n.2205+229G=) c.2392G= (p.Ala798=) c.2133+229G= (n.2133+229G=) c.1680-5974G= (n.1680-5974G=) c.2488G= (p.Ala830=) c.2554G= (p.Ala852=) c.2551G= (p.Ala851=) c.2524G= (p.Ala842=) c.2470G= (p.Ala824=) c.2443G= (p.Ala815=) c.2428G= (p.Ala810=) c.2035G= (p.Ala679=) c.2497G= (p.Ala833=) c.2434G= (p.Ala812=) c.2431G= (p.Ala811=) c.2389G= (p.Ala797=) c.1462G= (p.Ala488=) | |
20 | g.63406817C>G | CA409637043 | KCNQ2 | c.2500G>C (p.Ala834Pro) c.2446G>C (p.Ala816Pro) c.1843G>C (p.Ala615Pro) c.2353G>C (p.Ala785Pro) c.2014G>C (p.Ala672Pro) c.2362G>C (p.Ala788Pro) c.2241+229G>C (n.2241+229G>C) c.2205+229G>C (n.2205+229G>C) c.2392G>C (p.Ala798Pro) c.2133+229G>C (n.2133+229G>C) c.1680-5974G>C (n.1680-5974G>C) c.2488G>C (p.Ala830Pro) c.2554G>C (p.Ala852Pro) c.2551G>C (p.Ala851Pro) c.2524G>C (p.Ala842Pro) c.2470G>C (p.Ala824Pro) c.2443G>C (p.Ala815Pro) c.2428G>C (p.Ala810Pro) c.2035G>C (p.Ala679Pro) c.2497G>C (p.Ala833Pro) c.2434G>C (p.Ala812Pro) c.2431G>C (p.Ala811Pro) c.2389G>C (p.Ala797Pro) c.1462G>C (p.Ala488Pro) | |
20 | g.63406817C>T | CA315528 | KCNQ2 | c.2500G>A (p.Ala834Thr) c.2446G>A (p.Ala816Thr) c.1843G>A (p.Ala615Thr) c.2353G>A (p.Ala785Thr) c.2014G>A (p.Ala672Thr) c.2362G>A (p.Ala788Thr) c.2241+229G>A (n.2241+229G>A) c.2205+229G>A (n.2205+229G>A) c.2392G>A (p.Ala798Thr) c.2133+229G>A (n.2133+229G>A) c.1680-5974G>A (n.1680-5974G>A) c.2488G>A (p.Ala830Thr) c.2554G>A (p.Ala852Thr) c.2551G>A (p.Ala851Thr) c.2524G>A (p.Ala842Thr) c.2470G>A (p.Ala824Thr) c.2443G>A (p.Ala815Thr) c.2428G>A (p.Ala810Thr) c.2035G>A (p.Ala679Thr) c.2497G>A (p.Ala833Thr) c.2434G>A (p.Ala812Thr) c.2431G>A (p.Ala811Thr) c.2389G>A (p.Ala797Thr) c.1462G>A (p.Ala488Thr) | ClinVar dbSNP |
20 | g.63406818A= | CA2374774259 | KCNQ2 | c.2499T= (p.Asp833=) c.2445T= (p.Asp815=) c.1842T= (p.Asp614=) c.2352T= (p.Asp784=) c.2013T= (p.Asp671=) c.2361T= (p.Asp787=) c.2241+228T= (n.2241+228T=) c.2205+228T= (n.2205+228T=) c.2391T= (p.Asp797=) c.2133+228T= (n.2133+228T=) c.1680-5975T= (n.1680-5975T=) c.2487T= (p.Asp829=) c.2553T= (p.Asp851=) c.2550T= (p.Asp850=) c.2523T= (p.Asp841=) c.2469T= (p.Asp823=) c.2442T= (p.Asp814=) c.2427T= (p.Asp809=) c.2034T= (p.Asp678=) c.2496T= (p.Asp832=) c.2433T= (p.Asp811=) c.2430T= (p.Asp810=) c.2388T= (p.Asp796=) c.1461T= (p.Asp487=) | |
20 | g.63406818A>C | CA317421733 | KCNQ2 | c.2499T>G (p.Asp833Glu) c.2445T>G (p.Asp815Glu) c.1842T>G (p.Asp614Glu) c.2352T>G (p.Asp784Glu) c.2013T>G (p.Asp671Glu) c.2361T>G (p.Asp787Glu) c.2241+228T>G (n.2241+228T>G) c.2205+228T>G (n.2205+228T>G) c.2391T>G (p.Asp797Glu) c.2133+228T>G (n.2133+228T>G) c.1680-5975T>G (n.1680-5975T>G) c.2487T>G (p.Asp829Glu) c.2553T>G (p.Asp851Glu) c.2550T>G (p.Asp850Glu) c.2523T>G (p.Asp841Glu) c.2469T>G (p.Asp823Glu) c.2442T>G (p.Asp814Glu) c.2427T>G (p.Asp809Glu) c.2034T>G (p.Asp678Glu) c.2496T>G (p.Asp832Glu) c.2433T>G (p.Asp811Glu) c.2430T>G (p.Asp810Glu) c.2388T>G (p.Asp796Glu) c.1461T>G (p.Asp487Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406818A>G | CA511339353 | KCNQ2 | c.2499T>C (p.Asp833=) c.2445T>C (p.Asp815=) c.1842T>C (p.Asp614=) c.2352T>C (p.Asp784=) c.2013T>C (p.Asp671=) c.2361T>C (p.Asp787=) c.2241+228T>C (n.2241+228T>C) c.2205+228T>C (n.2205+228T>C) c.2391T>C (p.Asp797=) c.2133+228T>C (n.2133+228T>C) c.1680-5975T>C (n.1680-5975T>C) c.2487T>C (p.Asp829=) c.2553T>C (p.Asp851=) c.2550T>C (p.Asp850=) c.2523T>C (p.Asp841=) c.2469T>C (p.Asp823=) c.2442T>C (p.Asp814=) c.2427T>C (p.Asp809=) c.2034T>C (p.Asp678=) c.2496T>C (p.Asp832=) c.2433T>C (p.Asp811=) c.2430T>C (p.Asp810=) c.2388T>C (p.Asp796=) c.1461T>C (p.Asp487=) | |
20 | g.63406818A>T | CA409637047 | KCNQ2 | c.2499T>A (p.Asp833Glu) c.2445T>A (p.Asp815Glu) c.1842T>A (p.Asp614Glu) c.2352T>A (p.Asp784Glu) c.2013T>A (p.Asp671Glu) c.2361T>A (p.Asp787Glu) c.2241+228T>A (n.2241+228T>A) c.2205+228T>A (n.2205+228T>A) c.2391T>A (p.Asp797Glu) c.2133+228T>A (n.2133+228T>A) c.1680-5975T>A (n.1680-5975T>A) c.2487T>A (p.Asp829Glu) c.2553T>A (p.Asp851Glu) c.2550T>A (p.Asp850Glu) c.2523T>A (p.Asp841Glu) c.2469T>A (p.Asp823Glu) c.2442T>A (p.Asp814Glu) c.2427T>A (p.Asp809Glu) c.2034T>A (p.Asp678Glu) c.2496T>A (p.Asp832Glu) c.2433T>A (p.Asp811Glu) c.2430T>A (p.Asp810Glu) c.2388T>A (p.Asp796Glu) c.1461T>A (p.Asp487Glu) | |
20 | g.63406819T>A | CA409637050 | KCNQ2 | c.2498A>T (p.Asp833Val) c.2444A>T (p.Asp815Val) c.1841A>T (p.Asp614Val) c.2351A>T (p.Asp784Val) c.2012A>T (p.Asp671Val) c.2360A>T (p.Asp787Val) c.2241+227A>T (n.2241+227A>T) c.2205+227A>T (n.2205+227A>T) c.2390A>T (p.Asp797Val) c.2133+227A>T (n.2133+227A>T) c.1680-5976A>T (n.1680-5976A>T) c.2486A>T (p.Asp829Val) c.2552A>T (p.Asp851Val) c.2549A>T (p.Asp850Val) c.2522A>T (p.Asp841Val) c.2468A>T (p.Asp823Val) c.2441A>T (p.Asp814Val) c.2426A>T (p.Asp809Val) c.2033A>T (p.Asp678Val) c.2495A>T (p.Asp832Val) c.2432A>T (p.Asp811Val) c.2429A>T (p.Asp810Val) c.2387A>T (p.Asp796Val) c.1460A>T (p.Asp487Val) | |
20 | g.63406819T>C | CA409637052 | KCNQ2 | c.2498A>G (p.Asp833Gly) c.2444A>G (p.Asp815Gly) c.1841A>G (p.Asp614Gly) c.2351A>G (p.Asp784Gly) c.2012A>G (p.Asp671Gly) c.2360A>G (p.Asp787Gly) c.2241+227A>G (n.2241+227A>G) c.2205+227A>G (n.2205+227A>G) c.2390A>G (p.Asp797Gly) c.2133+227A>G (n.2133+227A>G) c.1680-5976A>G (n.1680-5976A>G) c.2486A>G (p.Asp829Gly) c.2552A>G (p.Asp851Gly) c.2549A>G (p.Asp850Gly) c.2522A>G (p.Asp841Gly) c.2468A>G (p.Asp823Gly) c.2441A>G (p.Asp814Gly) c.2426A>G (p.Asp809Gly) c.2033A>G (p.Asp678Gly) c.2495A>G (p.Asp832Gly) c.2432A>G (p.Asp811Gly) c.2429A>G (p.Asp810Gly) c.2387A>G (p.Asp796Gly) c.1460A>G (p.Asp487Gly) | |
20 | g.63406819T>G | CA409637054 | KCNQ2 | c.2498A>C (p.Asp833Ala) c.2444A>C (p.Asp815Ala) c.1841A>C (p.Asp614Ala) c.2351A>C (p.Asp784Ala) c.2012A>C (p.Asp671Ala) c.2360A>C (p.Asp787Ala) c.2241+227A>C (n.2241+227A>C) c.2205+227A>C (n.2205+227A>C) c.2390A>C (p.Asp797Ala) c.2133+227A>C (n.2133+227A>C) c.1680-5976A>C (n.1680-5976A>C) c.2486A>C (p.Asp829Ala) c.2552A>C (p.Asp851Ala) c.2549A>C (p.Asp850Ala) c.2522A>C (p.Asp841Ala) c.2468A>C (p.Asp823Ala) c.2441A>C (p.Asp814Ala) c.2426A>C (p.Asp809Ala) c.2033A>C (p.Asp678Ala) c.2495A>C (p.Asp832Ala) c.2432A>C (p.Asp811Ala) c.2429A>C (p.Asp810Ala) c.2387A>C (p.Asp796Ala) c.1460A>C (p.Asp487Ala) | |
20 | g.63406820C>A | CA409637056 | KCNQ2 | c.2497G>T (p.Asp833Tyr) c.2443G>T (p.Asp815Tyr) c.1840G>T (p.Asp614Tyr) c.2350G>T (p.Asp784Tyr) c.2011G>T (p.Asp671Tyr) c.2359G>T (p.Asp787Tyr) c.2241+226G>T (n.2241+226G>T) c.2205+226G>T (n.2205+226G>T) c.2389G>T (p.Asp797Tyr) c.2133+226G>T (n.2133+226G>T) c.1680-5977G>T (n.1680-5977G>T) c.2485G>T (p.Asp829Tyr) c.2551G>T (p.Asp851Tyr) c.2548G>T (p.Asp850Tyr) c.2521G>T (p.Asp841Tyr) c.2467G>T (p.Asp823Tyr) c.2440G>T (p.Asp814Tyr) c.2425G>T (p.Asp809Tyr) c.2032G>T (p.Asp678Tyr) c.2494G>T (p.Asp832Tyr) c.2431G>T (p.Asp811Tyr) c.2428G>T (p.Asp810Tyr) c.2386G>T (p.Asp796Tyr) c.1459G>T (p.Asp487Tyr) | |
20 | g.63406820C>G | CA409637059 | KCNQ2 | c.2497G>C (p.Asp833His) c.2443G>C (p.Asp815His) c.1840G>C (p.Asp614His) c.2350G>C (p.Asp784His) c.2011G>C (p.Asp671His) c.2359G>C (p.Asp787His) c.2241+226G>C (n.2241+226G>C) c.2205+226G>C (n.2205+226G>C) c.2389G>C (p.Asp797His) c.2133+226G>C (n.2133+226G>C) c.1680-5977G>C (n.1680-5977G>C) c.2485G>C (p.Asp829His) c.2551G>C (p.Asp851His) c.2548G>C (p.Asp850His) c.2521G>C (p.Asp841His) c.2467G>C (p.Asp823His) c.2440G>C (p.Asp814His) c.2425G>C (p.Asp809His) c.2032G>C (p.Asp678His) c.2494G>C (p.Asp832His) c.2431G>C (p.Asp811His) c.2428G>C (p.Asp810His) c.2386G>C (p.Asp796His) c.1459G>C (p.Asp487His) | |
20 | g.63406820C>T | CA409637057 | KCNQ2 | c.2497G>A (p.Asp833Asn) c.2443G>A (p.Asp815Asn) c.1840G>A (p.Asp614Asn) c.2350G>A (p.Asp784Asn) c.2011G>A (p.Asp671Asn) c.2359G>A (p.Asp787Asn) c.2241+226G>A (n.2241+226G>A) c.2205+226G>A (n.2205+226G>A) c.2389G>A (p.Asp797Asn) c.2133+226G>A (n.2133+226G>A) c.1680-5977G>A (n.1680-5977G>A) c.2485G>A (p.Asp829Asn) c.2551G>A (p.Asp851Asn) c.2548G>A (p.Asp850Asn) c.2521G>A (p.Asp841Asn) c.2467G>A (p.Asp823Asn) c.2440G>A (p.Asp814Asn) c.2425G>A (p.Asp809Asn) c.2032G>A (p.Asp678Asn) c.2494G>A (p.Asp832Asn) c.2431G>A (p.Asp811Asn) c.2428G>A (p.Asp810Asn) c.2386G>A (p.Asp796Asn) c.1459G>A (p.Asp487Asn) | |
20 | g.63406821C>A | CA511339360 | KCNQ2 | c.2496G>T (p.Leu832=) c.2442G>T (p.Leu814=) c.1839G>T (p.Leu613=) c.2349G>T (p.Leu783=) c.2010G>T (p.Leu670=) c.2358G>T (p.Leu786=) c.2241+225G>T (n.2241+225G>T) c.2205+225G>T (n.2205+225G>T) c.2388G>T (p.Leu796=) c.2133+225G>T (n.2133+225G>T) c.1680-5978G>T (n.1680-5978G>T) c.2484G>T (p.Leu828=) c.2550G>T (p.Leu850=) c.2547G>T (p.Leu849=) c.2520G>T (p.Leu840=) c.2466G>T (p.Leu822=) c.2439G>T (p.Leu813=) c.2424G>T (p.Leu808=) c.2031G>T (p.Leu677=) c.2493G>T (p.Leu831=) c.2430G>T (p.Leu810=) c.2427G>T (p.Leu809=) c.2385G>T (p.Leu795=) c.1458G>T (p.Leu486=) | |
20 | g.63406821C>G | CA511339363 | KCNQ2 | c.2496G>C (p.Leu832=) c.2442G>C (p.Leu814=) c.1839G>C (p.Leu613=) c.2349G>C (p.Leu783=) c.2010G>C (p.Leu670=) c.2358G>C (p.Leu786=) c.2241+225G>C (n.2241+225G>C) c.2205+225G>C (n.2205+225G>C) c.2388G>C (p.Leu796=) c.2133+225G>C (n.2133+225G>C) c.1680-5978G>C (n.1680-5978G>C) c.2484G>C (p.Leu828=) c.2550G>C (p.Leu850=) c.2547G>C (p.Leu849=) c.2520G>C (p.Leu840=) c.2466G>C (p.Leu822=) c.2439G>C (p.Leu813=) c.2424G>C (p.Leu808=) c.2031G>C (p.Leu677=) c.2493G>C (p.Leu831=) c.2430G>C (p.Leu810=) c.2427G>C (p.Leu809=) c.2385G>C (p.Leu795=) c.1458G>C (p.Leu486=) | |
20 | g.63406821C>T | CA511339362 | KCNQ2 | c.2496G>A (p.Leu832=) c.2442G>A (p.Leu814=) c.1839G>A (p.Leu613=) c.2349G>A (p.Leu783=) c.2010G>A (p.Leu670=) c.2358G>A (p.Leu786=) c.2241+225G>A (n.2241+225G>A) c.2205+225G>A (n.2205+225G>A) c.2388G>A (p.Leu796=) c.2133+225G>A (n.2133+225G>A) c.1680-5978G>A (n.1680-5978G>A) c.2484G>A (p.Leu828=) c.2550G>A (p.Leu850=) c.2547G>A (p.Leu849=) c.2520G>A (p.Leu840=) c.2466G>A (p.Leu822=) c.2439G>A (p.Leu813=) c.2424G>A (p.Leu808=) c.2031G>A (p.Leu677=) c.2493G>A (p.Leu831=) c.2430G>A (p.Leu810=) c.2427G>A (p.Leu809=) c.2385G>A (p.Leu795=) c.1458G>A (p.Leu486=) | |
20 | g.63406822A= | CA2374774260 | KCNQ2 | c.2495T= (p.Leu832=) c.2441T= (p.Leu814=) c.1838T= (p.Leu613=) c.2348T= (p.Leu783=) c.2009T= (p.Leu670=) c.2357T= (p.Leu786=) c.2241+224T= (n.2241+224T=) c.2205+224T= (n.2205+224T=) c.2387T= (p.Leu796=) c.2133+224T= (n.2133+224T=) c.1680-5979T= (n.1680-5979T=) c.2483T= (p.Leu828=) c.2549T= (p.Leu850=) c.2546T= (p.Leu849=) c.2519T= (p.Leu840=) c.2465T= (p.Leu822=) c.2438T= (p.Leu813=) c.2423T= (p.Leu808=) c.2030T= (p.Leu677=) c.2492T= (p.Leu831=) c.2429T= (p.Leu810=) c.2426T= (p.Leu809=) c.2384T= (p.Leu795=) c.1457T= (p.Leu486=) | |
20 | g.63406822A>C | CA317421739 | KCNQ2 | c.2495T>G (p.Leu832Arg) c.2441T>G (p.Leu814Arg) c.1838T>G (p.Leu613Arg) c.2348T>G (p.Leu783Arg) c.2009T>G (p.Leu670Arg) c.2357T>G (p.Leu786Arg) c.2241+224T>G (n.2241+224T>G) c.2205+224T>G (n.2205+224T>G) c.2387T>G (p.Leu796Arg) c.2133+224T>G (n.2133+224T>G) c.1680-5979T>G (n.1680-5979T>G) c.2483T>G (p.Leu828Arg) c.2549T>G (p.Leu850Arg) c.2546T>G (p.Leu849Arg) c.2519T>G (p.Leu840Arg) c.2465T>G (p.Leu822Arg) c.2438T>G (p.Leu813Arg) c.2423T>G (p.Leu808Arg) c.2030T>G (p.Leu677Arg) c.2492T>G (p.Leu831Arg) c.2429T>G (p.Leu810Arg) c.2426T>G (p.Leu809Arg) c.2384T>G (p.Leu795Arg) c.1457T>G (p.Leu486Arg) | dbSNP |
20 | g.63406822A>G | CA409637062 | KCNQ2 | c.2495T>C (p.Leu832Pro) c.2441T>C (p.Leu814Pro) c.1838T>C (p.Leu613Pro) c.2348T>C (p.Leu783Pro) c.2009T>C (p.Leu670Pro) c.2357T>C (p.Leu786Pro) c.2241+224T>C (n.2241+224T>C) c.2205+224T>C (n.2205+224T>C) c.2387T>C (p.Leu796Pro) c.2133+224T>C (n.2133+224T>C) c.1680-5979T>C (n.1680-5979T>C) c.2483T>C (p.Leu828Pro) c.2549T>C (p.Leu850Pro) c.2546T>C (p.Leu849Pro) c.2519T>C (p.Leu840Pro) c.2465T>C (p.Leu822Pro) c.2438T>C (p.Leu813Pro) c.2423T>C (p.Leu808Pro) c.2030T>C (p.Leu677Pro) c.2492T>C (p.Leu831Pro) c.2429T>C (p.Leu810Pro) c.2426T>C (p.Leu809Pro) c.2384T>C (p.Leu795Pro) c.1457T>C (p.Leu486Pro) | |
20 | g.63406822A>T | CA409637064 | KCNQ2 | c.2495T>A (p.Leu832Gln) c.2441T>A (p.Leu814Gln) c.1838T>A (p.Leu613Gln) c.2348T>A (p.Leu783Gln) c.2009T>A (p.Leu670Gln) c.2357T>A (p.Leu786Gln) c.2241+224T>A (n.2241+224T>A) c.2205+224T>A (n.2205+224T>A) c.2387T>A (p.Leu796Gln) c.2133+224T>A (n.2133+224T>A) c.1680-5979T>A (n.1680-5979T>A) c.2483T>A (p.Leu828Gln) c.2549T>A (p.Leu850Gln) c.2546T>A (p.Leu849Gln) c.2519T>A (p.Leu840Gln) c.2465T>A (p.Leu822Gln) c.2438T>A (p.Leu813Gln) c.2423T>A (p.Leu808Gln) c.2030T>A (p.Leu677Gln) c.2492T>A (p.Leu831Gln) c.2429T>A (p.Leu810Gln) c.2426T>A (p.Leu809Gln) c.2384T>A (p.Leu795Gln) c.1457T>A (p.Leu486Gln) | |
20 | g.63406823G>A | CA511339366 | KCNQ2 | c.2494C>T (p.Leu832=) c.2440C>T (p.Leu814=) c.1837C>T (p.Leu613=) c.2347C>T (p.Leu783=) c.2008C>T (p.Leu670=) c.2356C>T (p.Leu786=) c.2241+223C>T (n.2241+223C>T) c.2205+223C>T (n.2205+223C>T) c.2386C>T (p.Leu796=) c.2133+223C>T (n.2133+223C>T) c.1680-5980C>T (n.1680-5980C>T) c.2482C>T (p.Leu828=) c.2548C>T (p.Leu850=) c.2545C>T (p.Leu849=) c.2518C>T (p.Leu840=) c.2464C>T (p.Leu822=) c.2437C>T (p.Leu813=) c.2422C>T (p.Leu808=) c.2029C>T (p.Leu677=) c.2491C>T (p.Leu831=) c.2428C>T (p.Leu810=) c.2425C>T (p.Leu809=) c.2383C>T (p.Leu795=) c.1456C>T (p.Leu486=) | ClinVar |
20 | g.63406823G>C | CA409637067 | KCNQ2 | c.2494C>G (p.Leu832Val) c.2440C>G (p.Leu814Val) c.1837C>G (p.Leu613Val) c.2347C>G (p.Leu783Val) c.2008C>G (p.Leu670Val) c.2356C>G (p.Leu786Val) c.2241+223C>G (n.2241+223C>G) c.2205+223C>G (n.2205+223C>G) c.2386C>G (p.Leu796Val) c.2133+223C>G (n.2133+223C>G) c.1680-5980C>G (n.1680-5980C>G) c.2482C>G (p.Leu828Val) c.2548C>G (p.Leu850Val) c.2545C>G (p.Leu849Val) c.2518C>G (p.Leu840Val) c.2464C>G (p.Leu822Val) c.2437C>G (p.Leu813Val) c.2422C>G (p.Leu808Val) c.2029C>G (p.Leu677Val) c.2491C>G (p.Leu831Val) c.2428C>G (p.Leu810Val) c.2425C>G (p.Leu809Val) c.2383C>G (p.Leu795Val) c.1456C>G (p.Leu486Val) | |
20 | g.63406823G>T | CA409637068 | KCNQ2 | c.2494C>A (p.Leu832Met) c.2440C>A (p.Leu814Met) c.1837C>A (p.Leu613Met) c.2347C>A (p.Leu783Met) c.2008C>A (p.Leu670Met) c.2356C>A (p.Leu786Met) c.2241+223C>A (n.2241+223C>A) c.2205+223C>A (n.2205+223C>A) c.2386C>A (p.Leu796Met) c.2133+223C>A (n.2133+223C>A) c.1680-5980C>A (n.1680-5980C>A) c.2482C>A (p.Leu828Met) c.2548C>A (p.Leu850Met) c.2545C>A (p.Leu849Met) c.2518C>A (p.Leu840Met) c.2464C>A (p.Leu822Met) c.2437C>A (p.Leu813Met) c.2422C>A (p.Leu808Met) c.2029C>A (p.Leu677Met) c.2491C>A (p.Leu831Met) c.2428C>A (p.Leu810Met) c.2425C>A (p.Leu809Met) c.2383C>A (p.Leu795Met) c.1456C>A (p.Leu486Met) | |
20 | g.63406824G>A | CA511339368 | KCNQ2 | c.2493C>T (p.Asn831=) c.2439C>T (p.Asn813=) c.1836C>T (p.Asn612=) c.2346C>T (p.Asn782=) c.2007C>T (p.Asn669=) c.2355C>T (p.Asn785=) c.2241+222C>T (n.2241+222C>T) c.2205+222C>T (n.2205+222C>T) c.2385C>T (p.Asn795=) c.2133+222C>T (n.2133+222C>T) c.1680-5981C>T (n.1680-5981C>T) c.2481C>T (p.Asn827=) c.2547C>T (p.Asn849=) c.2544C>T (p.Asn848=) c.2517C>T (p.Asn839=) c.2463C>T (p.Asn821=) c.2436C>T (p.Asn812=) c.2421C>T (p.Asn807=) c.2028C>T (p.Asn676=) c.2490C>T (p.Asn830=) c.2427C>T (p.Asn809=) c.2424C>T (p.Asn808=) c.2382C>T (p.Asn794=) c.1455C>T (p.Asn485=) | dbSNP gnomAD v4 |
20 | g.63406824G>C | CA409637069 | KCNQ2 | c.2493C>G (p.Asn831Lys) c.2439C>G (p.Asn813Lys) c.1836C>G (p.Asn612Lys) c.2346C>G (p.Asn782Lys) c.2007C>G (p.Asn669Lys) c.2355C>G (p.Asn785Lys) c.2241+222C>G (n.2241+222C>G) c.2205+222C>G (n.2205+222C>G) c.2385C>G (p.Asn795Lys) c.2133+222C>G (n.2133+222C>G) c.1680-5981C>G (n.1680-5981C>G) c.2481C>G (p.Asn827Lys) c.2547C>G (p.Asn849Lys) c.2544C>G (p.Asn848Lys) c.2517C>G (p.Asn839Lys) c.2463C>G (p.Asn821Lys) c.2436C>G (p.Asn812Lys) c.2421C>G (p.Asn807Lys) c.2028C>G (p.Asn676Lys) c.2490C>G (p.Asn830Lys) c.2427C>G (p.Asn809Lys) c.2424C>G (p.Asn808Lys) c.2382C>G (p.Asn794Lys) c.1455C>G (p.Asn485Lys) | gnomAD v4 |
20 | g.63406824G>T | CA409637071 | KCNQ2 | c.2493C>A (p.Asn831Lys) c.2439C>A (p.Asn813Lys) c.1836C>A (p.Asn612Lys) c.2346C>A (p.Asn782Lys) c.2007C>A (p.Asn669Lys) c.2355C>A (p.Asn785Lys) c.2241+222C>A (n.2241+222C>A) c.2205+222C>A (n.2205+222C>A) c.2385C>A (p.Asn795Lys) c.2133+222C>A (n.2133+222C>A) c.1680-5981C>A (n.1680-5981C>A) c.2481C>A (p.Asn827Lys) c.2547C>A (p.Asn849Lys) c.2544C>A (p.Asn848Lys) c.2517C>A (p.Asn839Lys) c.2463C>A (p.Asn821Lys) c.2436C>A (p.Asn812Lys) c.2421C>A (p.Asn807Lys) c.2028C>A (p.Asn676Lys) c.2490C>A (p.Asn830Lys) c.2427C>A (p.Asn809Lys) c.2424C>A (p.Asn808Lys) c.2382C>A (p.Asn794Lys) c.1455C>A (p.Asn485Lys) | ClinVar COSMIC |
20 | g.63406825T>A | CA409637072 | KCNQ2 | c.2492A>T (p.Asn831Ile) c.2438A>T (p.Asn813Ile) c.1835A>T (p.Asn612Ile) c.2345A>T (p.Asn782Ile) c.2006A>T (p.Asn669Ile) c.2354A>T (p.Asn785Ile) c.2241+221A>T (n.2241+221A>T) c.2205+221A>T (n.2205+221A>T) c.2384A>T (p.Asn795Ile) c.2133+221A>T (n.2133+221A>T) c.1680-5982A>T (n.1680-5982A>T) c.2480A>T (p.Asn827Ile) c.2546A>T (p.Asn849Ile) c.2543A>T (p.Asn848Ile) c.2516A>T (p.Asn839Ile) c.2462A>T (p.Asn821Ile) c.2435A>T (p.Asn812Ile) c.2420A>T (p.Asn807Ile) c.2027A>T (p.Asn676Ile) c.2489A>T (p.Asn830Ile) c.2426A>T (p.Asn809Ile) c.2423A>T (p.Asn808Ile) c.2381A>T (p.Asn794Ile) c.1454A>T (p.Asn485Ile) | |
20 | g.63406825T>C | CA317421743 | KCNQ2 | c.2492A>G (p.Asn831Ser) c.2438A>G (p.Asn813Ser) c.1835A>G (p.Asn612Ser) c.2345A>G (p.Asn782Ser) c.2006A>G (p.Asn669Ser) c.2354A>G (p.Asn785Ser) c.2241+221A>G (n.2241+221A>G) c.2205+221A>G (n.2205+221A>G) c.2384A>G (p.Asn795Ser) c.2133+221A>G (n.2133+221A>G) c.1680-5982A>G (n.1680-5982A>G) c.2480A>G (p.Asn827Ser) c.2546A>G (p.Asn849Ser) c.2543A>G (p.Asn848Ser) c.2516A>G (p.Asn839Ser) c.2462A>G (p.Asn821Ser) c.2435A>G (p.Asn812Ser) c.2420A>G (p.Asn807Ser) c.2027A>G (p.Asn676Ser) c.2489A>G (p.Asn830Ser) c.2426A>G (p.Asn809Ser) c.2423A>G (p.Asn808Ser) c.2381A>G (p.Asn794Ser) c.1454A>G (p.Asn485Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406825T>G | CA409637075 | KCNQ2 | c.2492A>C (p.Asn831Thr) c.2438A>C (p.Asn813Thr) c.1835A>C (p.Asn612Thr) c.2345A>C (p.Asn782Thr) c.2006A>C (p.Asn669Thr) c.2354A>C (p.Asn785Thr) c.2241+221A>C (n.2241+221A>C) c.2205+221A>C (n.2205+221A>C) c.2384A>C (p.Asn795Thr) c.2133+221A>C (n.2133+221A>C) c.1680-5982A>C (n.1680-5982A>C) c.2480A>C (p.Asn827Thr) c.2546A>C (p.Asn849Thr) c.2543A>C (p.Asn848Thr) c.2516A>C (p.Asn839Thr) c.2462A>C (p.Asn821Thr) c.2435A>C (p.Asn812Thr) c.2420A>C (p.Asn807Thr) c.2027A>C (p.Asn676Thr) c.2489A>C (p.Asn830Thr) c.2426A>C (p.Asn809Thr) c.2423A>C (p.Asn808Thr) c.2381A>C (p.Asn794Thr) c.1454A>C (p.Asn485Thr) | |
20 | g.63406825T= | CA2374774261 | KCNQ2 | c.2492A= (p.Asn831=) c.2438A= (p.Asn813=) c.1835A= (p.Asn612=) c.2345A= (p.Asn782=) c.2006A= (p.Asn669=) c.2354A= (p.Asn785=) c.2241+221A= (n.2241+221A=) c.2205+221A= (n.2205+221A=) c.2384A= (p.Asn795=) c.2133+221A= (n.2133+221A=) c.1680-5982A= (n.1680-5982A=) c.2480A= (p.Asn827=) c.2546A= (p.Asn849=) c.2543A= (p.Asn848=) c.2516A= (p.Asn839=) c.2462A= (p.Asn821=) c.2435A= (p.Asn812=) c.2420A= (p.Asn807=) c.2027A= (p.Asn676=) c.2489A= (p.Asn830=) c.2426A= (p.Asn809=) c.2423A= (p.Asn808=) c.2381A= (p.Asn794=) c.1454A= (p.Asn485=) | |
20 | g.63406826T>A | CA409637077 | KCNQ2 | c.2491A>T (p.Asn831Tyr) c.2437A>T (p.Asn813Tyr) c.1834A>T (p.Asn612Tyr) c.2344A>T (p.Asn782Tyr) c.2005A>T (p.Asn669Tyr) c.2353A>T (p.Asn785Tyr) c.2241+220A>T (n.2241+220A>T) c.2205+220A>T (n.2205+220A>T) c.2383A>T (p.Asn795Tyr) c.2133+220A>T (n.2133+220A>T) c.1680-5983A>T (n.1680-5983A>T) c.2479A>T (p.Asn827Tyr) c.2545A>T (p.Asn849Tyr) c.2542A>T (p.Asn848Tyr) c.2515A>T (p.Asn839Tyr) c.2461A>T (p.Asn821Tyr) c.2434A>T (p.Asn812Tyr) c.2419A>T (p.Asn807Tyr) c.2026A>T (p.Asn676Tyr) c.2488A>T (p.Asn830Tyr) c.2425A>T (p.Asn809Tyr) c.2422A>T (p.Asn808Tyr) c.2380A>T (p.Asn794Tyr) c.1453A>T (p.Asn485Tyr) | |
20 | g.63406826T>C | CA409637079 | KCNQ2 | c.2491A>G (p.Asn831Asp) c.2437A>G (p.Asn813Asp) c.1834A>G (p.Asn612Asp) c.2344A>G (p.Asn782Asp) c.2005A>G (p.Asn669Asp) c.2353A>G (p.Asn785Asp) c.2241+220A>G (n.2241+220A>G) c.2205+220A>G (n.2205+220A>G) c.2383A>G (p.Asn795Asp) c.2133+220A>G (n.2133+220A>G) c.1680-5983A>G (n.1680-5983A>G) c.2479A>G (p.Asn827Asp) c.2545A>G (p.Asn849Asp) c.2542A>G (p.Asn848Asp) c.2515A>G (p.Asn839Asp) c.2461A>G (p.Asn821Asp) c.2434A>G (p.Asn812Asp) c.2419A>G (p.Asn807Asp) c.2026A>G (p.Asn676Asp) c.2488A>G (p.Asn830Asp) c.2425A>G (p.Asn809Asp) c.2422A>G (p.Asn808Asp) c.2380A>G (p.Asn794Asp) c.1453A>G (p.Asn485Asp) | |
20 | g.63406826T>G | CA409637081 | KCNQ2 | c.2491A>C (p.Asn831His) c.2437A>C (p.Asn813His) c.1834A>C (p.Asn612His) c.2344A>C (p.Asn782His) c.2005A>C (p.Asn669His) c.2353A>C (p.Asn785His) c.2241+220A>C (n.2241+220A>C) c.2205+220A>C (n.2205+220A>C) c.2383A>C (p.Asn795His) c.2133+220A>C (n.2133+220A>C) c.1680-5983A>C (n.1680-5983A>C) c.2479A>C (p.Asn827His) c.2545A>C (p.Asn849His) c.2542A>C (p.Asn848His) c.2515A>C (p.Asn839His) c.2461A>C (p.Asn821His) c.2434A>C (p.Asn812His) c.2419A>C (p.Asn807His) c.2026A>C (p.Asn676His) c.2488A>C (p.Asn830His) c.2425A>C (p.Asn809His) c.2422A>C (p.Asn808His) c.2380A>C (p.Asn794His) c.1453A>C (p.Asn485His) | |
20 | g.63406827C>A | CA409637083 | KCNQ2 | c.2490G>T (p.Glu830Asp) c.2436G>T (p.Glu812Asp) c.1833G>T (p.Glu611Asp) c.2343G>T (p.Glu781Asp) c.2004G>T (p.Glu668Asp) c.2352G>T (p.Glu784Asp) c.2241+219G>T (n.2241+219G>T) c.2205+219G>T (n.2205+219G>T) c.2382G>T (p.Glu794Asp) c.2133+219G>T (n.2133+219G>T) c.1680-5984G>T (n.1680-5984G>T) c.2478G>T (p.Glu826Asp) c.2544G>T (p.Glu848Asp) c.2541G>T (p.Glu847Asp) c.2514G>T (p.Glu838Asp) c.2460G>T (p.Glu820Asp) c.2433G>T (p.Glu811Asp) c.2418G>T (p.Glu806Asp) c.2025G>T (p.Glu675Asp) c.2487G>T (p.Glu829Asp) c.2424G>T (p.Glu808Asp) c.2421G>T (p.Glu807Asp) c.2379G>T (p.Glu793Asp) c.1452G>T (p.Glu484Asp) | |
20 | g.63406827C>G | CA409637084 | KCNQ2 | c.2490G>C (p.Glu830Asp) c.2436G>C (p.Glu812Asp) c.1833G>C (p.Glu611Asp) c.2343G>C (p.Glu781Asp) c.2004G>C (p.Glu668Asp) c.2352G>C (p.Glu784Asp) c.2241+219G>C (n.2241+219G>C) c.2205+219G>C (n.2205+219G>C) c.2382G>C (p.Glu794Asp) c.2133+219G>C (n.2133+219G>C) c.1680-5984G>C (n.1680-5984G>C) c.2478G>C (p.Glu826Asp) c.2544G>C (p.Glu848Asp) c.2541G>C (p.Glu847Asp) c.2514G>C (p.Glu838Asp) c.2460G>C (p.Glu820Asp) c.2433G>C (p.Glu811Asp) c.2418G>C (p.Glu806Asp) c.2025G>C (p.Glu675Asp) c.2487G>C (p.Glu829Asp) c.2424G>C (p.Glu808Asp) c.2421G>C (p.Glu807Asp) c.2379G>C (p.Glu793Asp) c.1452G>C (p.Glu484Asp) | |
20 | g.63406827C>T | CA511339374 | KCNQ2 | c.2490G>A (p.Glu830=) c.2436G>A (p.Glu812=) c.1833G>A (p.Glu611=) c.2343G>A (p.Glu781=) c.2004G>A (p.Glu668=) c.2352G>A (p.Glu784=) c.2241+219G>A (n.2241+219G>A) c.2205+219G>A (n.2205+219G>A) c.2382G>A (p.Glu794=) c.2133+219G>A (n.2133+219G>A) c.1680-5984G>A (n.1680-5984G>A) c.2478G>A (p.Glu826=) c.2544G>A (p.Glu848=) c.2541G>A (p.Glu847=) c.2514G>A (p.Glu838=) c.2460G>A (p.Glu820=) c.2433G>A (p.Glu811=) c.2418G>A (p.Glu806=) c.2025G>A (p.Glu675=) c.2487G>A (p.Glu829=) c.2424G>A (p.Glu808=) c.2421G>A (p.Glu807=) c.2379G>A (p.Glu793=) c.1452G>A (p.Glu484=) | |
20 | g.63406828T>A | CA409637087 | KCNQ2 | c.2489A>T (p.Glu830Val) c.2435A>T (p.Glu812Val) c.1832A>T (p.Glu611Val) c.2342A>T (p.Glu781Val) c.2003A>T (p.Glu668Val) c.2351A>T (p.Glu784Val) c.2241+218A>T (n.2241+218A>T) c.2205+218A>T (n.2205+218A>T) c.2381A>T (p.Glu794Val) c.2133+218A>T (n.2133+218A>T) c.1680-5985A>T (n.1680-5985A>T) c.2477A>T (p.Glu826Val) c.2543A>T (p.Glu848Val) c.2540A>T (p.Glu847Val) c.2513A>T (p.Glu838Val) c.2459A>T (p.Glu820Val) c.2432A>T (p.Glu811Val) c.2417A>T (p.Glu806Val) c.2024A>T (p.Glu675Val) c.2486A>T (p.Glu829Val) c.2423A>T (p.Glu808Val) c.2420A>T (p.Glu807Val) c.2378A>T (p.Glu793Val) c.1451A>T (p.Glu484Val) | |
20 | g.63406828T>C | CA409637089 | KCNQ2 | c.2489A>G (p.Glu830Gly) c.2435A>G (p.Glu812Gly) c.1832A>G (p.Glu611Gly) c.2342A>G (p.Glu781Gly) c.2003A>G (p.Glu668Gly) c.2351A>G (p.Glu784Gly) c.2241+218A>G (n.2241+218A>G) c.2205+218A>G (n.2205+218A>G) c.2381A>G (p.Glu794Gly) c.2133+218A>G (n.2133+218A>G) c.1680-5985A>G (n.1680-5985A>G) c.2477A>G (p.Glu826Gly) c.2543A>G (p.Glu848Gly) c.2540A>G (p.Glu847Gly) c.2513A>G (p.Glu838Gly) c.2459A>G (p.Glu820Gly) c.2432A>G (p.Glu811Gly) c.2417A>G (p.Glu806Gly) c.2024A>G (p.Glu675Gly) c.2486A>G (p.Glu829Gly) c.2423A>G (p.Glu808Gly) c.2420A>G (p.Glu807Gly) c.2378A>G (p.Glu793Gly) c.1451A>G (p.Glu484Gly) | |
20 | g.63406828T>G | CA409637090 | KCNQ2 | c.2489A>C (p.Glu830Ala) c.2435A>C (p.Glu812Ala) c.1832A>C (p.Glu611Ala) c.2342A>C (p.Glu781Ala) c.2003A>C (p.Glu668Ala) c.2351A>C (p.Glu784Ala) c.2241+218A>C (n.2241+218A>C) c.2205+218A>C (n.2205+218A>C) c.2381A>C (p.Glu794Ala) c.2133+218A>C (n.2133+218A>C) c.1680-5985A>C (n.1680-5985A>C) c.2477A>C (p.Glu826Ala) c.2543A>C (p.Glu848Ala) c.2540A>C (p.Glu847Ala) c.2513A>C (p.Glu838Ala) c.2459A>C (p.Glu820Ala) c.2432A>C (p.Glu811Ala) c.2417A>C (p.Glu806Ala) c.2024A>C (p.Glu675Ala) c.2486A>C (p.Glu829Ala) c.2423A>C (p.Glu808Ala) c.2420A>C (p.Glu807Ala) c.2378A>C (p.Glu793Ala) c.1451A>C (p.Glu484Ala) | ClinVar |
20 | g.63406829C>A | CA409637093 | KCNQ2 | c.2488G>T (p.Glu830Ter) c.2434G>T (p.Glu812Ter) c.1831G>T (p.Glu611Ter) c.2341G>T (p.Glu781Ter) c.2002G>T (p.Glu668Ter) c.2350G>T (p.Glu784Ter) c.2241+217G>T (n.2241+217G>T) c.2205+217G>T (n.2205+217G>T) c.2380G>T (p.Glu794Ter) c.2133+217G>T (n.2133+217G>T) c.1680-5986G>T (n.1680-5986G>T) c.2476G>T (p.Glu826Ter) c.2542G>T (p.Glu848Ter) c.2539G>T (p.Glu847Ter) c.2512G>T (p.Glu838Ter) c.2458G>T (p.Glu820Ter) c.2431G>T (p.Glu811Ter) c.2416G>T (p.Glu806Ter) c.2023G>T (p.Glu675Ter) c.2485G>T (p.Glu829Ter) c.2422G>T (p.Glu808Ter) c.2419G>T (p.Glu807Ter) c.2377G>T (p.Glu793Ter) c.1450G>T (p.Glu484Ter) | |
20 | g.63406829C>G | CA409637095 | KCNQ2 | c.2488G>C (p.Glu830Gln) c.2434G>C (p.Glu812Gln) c.1831G>C (p.Glu611Gln) c.2341G>C (p.Glu781Gln) c.2002G>C (p.Glu668Gln) c.2350G>C (p.Glu784Gln) c.2241+217G>C (n.2241+217G>C) c.2205+217G>C (n.2205+217G>C) c.2380G>C (p.Glu794Gln) c.2133+217G>C (n.2133+217G>C) c.1680-5986G>C (n.1680-5986G>C) c.2476G>C (p.Glu826Gln) c.2542G>C (p.Glu848Gln) c.2539G>C (p.Glu847Gln) c.2512G>C (p.Glu838Gln) c.2458G>C (p.Glu820Gln) c.2431G>C (p.Glu811Gln) c.2416G>C (p.Glu806Gln) c.2023G>C (p.Glu675Gln) c.2485G>C (p.Glu829Gln) c.2422G>C (p.Glu808Gln) c.2419G>C (p.Glu807Gln) c.2377G>C (p.Glu793Gln) c.1450G>C (p.Glu484Gln) | |
20 | g.63406829C>T | CA409637096 | KCNQ2 | c.2488G>A (p.Glu830Lys) c.2434G>A (p.Glu812Lys) c.1831G>A (p.Glu611Lys) c.2341G>A (p.Glu781Lys) c.2002G>A (p.Glu668Lys) c.2350G>A (p.Glu784Lys) c.2241+217G>A (n.2241+217G>A) c.2205+217G>A (n.2205+217G>A) c.2380G>A (p.Glu794Lys) c.2133+217G>A (n.2133+217G>A) c.1680-5986G>A (n.1680-5986G>A) c.2476G>A (p.Glu826Lys) c.2542G>A (p.Glu848Lys) c.2539G>A (p.Glu847Lys) c.2512G>A (p.Glu838Lys) c.2458G>A (p.Glu820Lys) c.2431G>A (p.Glu811Lys) c.2416G>A (p.Glu806Lys) c.2023G>A (p.Glu675Lys) c.2485G>A (p.Glu829Lys) c.2422G>A (p.Glu808Lys) c.2419G>A (p.Glu807Lys) c.2377G>A (p.Glu793Lys) c.1450G>A (p.Glu484Lys) | |
20 | g.63406830C>A | CA409637098 | KCNQ2 | c.2487G>T (p.Lys829Asn) c.2433G>T (p.Lys811Asn) c.1830G>T (p.Lys610Asn) c.2340G>T (p.Lys780Asn) c.2001G>T (p.Lys667Asn) c.2349G>T (p.Lys783Asn) c.2241+216G>T (n.2241+216G>T) c.2205+216G>T (n.2205+216G>T) c.2379G>T (p.Lys793Asn) c.2133+216G>T (n.2133+216G>T) c.1680-5987G>T (n.1680-5987G>T) c.2475G>T (p.Lys825Asn) c.2541G>T (p.Lys847Asn) c.2538G>T (p.Lys846Asn) c.2511G>T (p.Lys837Asn) c.2457G>T (p.Lys819Asn) c.2430G>T (p.Lys810Asn) c.2415G>T (p.Lys805Asn) c.2022G>T (p.Lys674Asn) c.2484G>T (p.Lys828Asn) c.2421G>T (p.Lys807Asn) c.2418G>T (p.Lys806Asn) c.2376G>T (p.Lys792Asn) c.1449G>T (p.Lys483Asn) | |
20 | g.63406830C>G | CA409637099 | KCNQ2 | c.2487G>C (p.Lys829Asn) c.2433G>C (p.Lys811Asn) c.1830G>C (p.Lys610Asn) c.2340G>C (p.Lys780Asn) c.2001G>C (p.Lys667Asn) c.2349G>C (p.Lys783Asn) c.2241+216G>C (n.2241+216G>C) c.2205+216G>C (n.2205+216G>C) c.2379G>C (p.Lys793Asn) c.2133+216G>C (n.2133+216G>C) c.1680-5987G>C (n.1680-5987G>C) c.2475G>C (p.Lys825Asn) c.2541G>C (p.Lys847Asn) c.2538G>C (p.Lys846Asn) c.2511G>C (p.Lys837Asn) c.2457G>C (p.Lys819Asn) c.2430G>C (p.Lys810Asn) c.2415G>C (p.Lys805Asn) c.2022G>C (p.Lys674Asn) c.2484G>C (p.Lys828Asn) c.2421G>C (p.Lys807Asn) c.2418G>C (p.Lys806Asn) c.2376G>C (p.Lys792Asn) c.1449G>C (p.Lys483Asn) | |
20 | g.63406830C>T | CA511339379 | KCNQ2 | c.2487G>A (p.Lys829=) c.2433G>A (p.Lys811=) c.1830G>A (p.Lys610=) c.2340G>A (p.Lys780=) c.2001G>A (p.Lys667=) c.2349G>A (p.Lys783=) c.2241+216G>A (n.2241+216G>A) c.2205+216G>A (n.2205+216G>A) c.2379G>A (p.Lys793=) c.2133+216G>A (n.2133+216G>A) c.1680-5987G>A (n.1680-5987G>A) c.2475G>A (p.Lys825=) c.2541G>A (p.Lys847=) c.2538G>A (p.Lys846=) c.2511G>A (p.Lys837=) c.2457G>A (p.Lys819=) c.2430G>A (p.Lys810=) c.2415G>A (p.Lys805=) c.2022G>A (p.Lys674=) c.2484G>A (p.Lys828=) c.2421G>A (p.Lys807=) c.2418G>A (p.Lys806=) c.2376G>A (p.Lys792=) c.1449G>A (p.Lys483=) | ClinVar gnomAD v4 |
20 | g.63406831T>A | CA409637101 | KCNQ2 | c.2486A>T (p.Lys829Met) c.2432A>T (p.Lys811Met) c.1829A>T (p.Lys610Met) c.2339A>T (p.Lys780Met) c.2000A>T (p.Lys667Met) c.2348A>T (p.Lys783Met) c.2241+215A>T (n.2241+215A>T) c.2205+215A>T (n.2205+215A>T) c.2378A>T (p.Lys793Met) c.2133+215A>T (n.2133+215A>T) c.1680-5988A>T (n.1680-5988A>T) c.2474A>T (p.Lys825Met) c.2540A>T (p.Lys847Met) c.2537A>T (p.Lys846Met) c.2510A>T (p.Lys837Met) c.2456A>T (p.Lys819Met) c.2429A>T (p.Lys810Met) c.2414A>T (p.Lys805Met) c.2021A>T (p.Lys674Met) c.2483A>T (p.Lys828Met) c.2420A>T (p.Lys807Met) c.2417A>T (p.Lys806Met) c.2375A>T (p.Lys792Met) c.1448A>T (p.Lys483Met) | |
20 | g.63406831T>C | CA409637103 | KCNQ2 | c.2486A>G (p.Lys829Arg) c.2432A>G (p.Lys811Arg) c.1829A>G (p.Lys610Arg) c.2339A>G (p.Lys780Arg) c.2000A>G (p.Lys667Arg) c.2348A>G (p.Lys783Arg) c.2241+215A>G (n.2241+215A>G) c.2205+215A>G (n.2205+215A>G) c.2378A>G (p.Lys793Arg) c.2133+215A>G (n.2133+215A>G) c.1680-5988A>G (n.1680-5988A>G) c.2474A>G (p.Lys825Arg) c.2540A>G (p.Lys847Arg) c.2537A>G (p.Lys846Arg) c.2510A>G (p.Lys837Arg) c.2456A>G (p.Lys819Arg) c.2429A>G (p.Lys810Arg) c.2414A>G (p.Lys805Arg) c.2021A>G (p.Lys674Arg) c.2483A>G (p.Lys828Arg) c.2420A>G (p.Lys807Arg) c.2417A>G (p.Lys806Arg) c.2375A>G (p.Lys792Arg) c.1448A>G (p.Lys483Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406831T>G | CA409637105 | KCNQ2 | c.2486A>C (p.Lys829Thr) c.2432A>C (p.Lys811Thr) c.1829A>C (p.Lys610Thr) c.2339A>C (p.Lys780Thr) c.2000A>C (p.Lys667Thr) c.2348A>C (p.Lys783Thr) c.2241+215A>C (n.2241+215A>C) c.2205+215A>C (n.2205+215A>C) c.2378A>C (p.Lys793Thr) c.2133+215A>C (n.2133+215A>C) c.1680-5988A>C (n.1680-5988A>C) c.2474A>C (p.Lys825Thr) c.2540A>C (p.Lys847Thr) c.2537A>C (p.Lys846Thr) c.2510A>C (p.Lys837Thr) c.2456A>C (p.Lys819Thr) c.2429A>C (p.Lys810Thr) c.2414A>C (p.Lys805Thr) c.2021A>C (p.Lys674Thr) c.2483A>C (p.Lys828Thr) c.2420A>C (p.Lys807Thr) c.2417A>C (p.Lys806Thr) c.2375A>C (p.Lys792Thr) c.1448A>C (p.Lys483Thr) | |
20 | g.63406831T= | CA2374774262 | KCNQ2 | c.2486A= (p.Lys829=) c.2432A= (p.Lys811=) c.1829A= (p.Lys610=) c.2339A= (p.Lys780=) c.2000A= (p.Lys667=) c.2348A= (p.Lys783=) c.2241+215A= (n.2241+215A=) c.2205+215A= (n.2205+215A=) c.2378A= (p.Lys793=) c.2133+215A= (n.2133+215A=) c.1680-5988A= (n.1680-5988A=) c.2474A= (p.Lys825=) c.2540A= (p.Lys847=) c.2537A= (p.Lys846=) c.2510A= (p.Lys837=) c.2456A= (p.Lys819=) c.2429A= (p.Lys810=) c.2414A= (p.Lys805=) c.2021A= (p.Lys674=) c.2483A= (p.Lys828=) c.2420A= (p.Lys807=) c.2417A= (p.Lys806=) c.2375A= (p.Lys792=) c.1448A= (p.Lys483=) | |
20 | g.63406832T>A | CA409637111 | KCNQ2 | c.2485A>T (p.Lys829Ter) c.2431A>T (p.Lys811Ter) c.1828A>T (p.Lys610Ter) c.2338A>T (p.Lys780Ter) c.1999A>T (p.Lys667Ter) c.2347A>T (p.Lys783Ter) c.2241+214A>T (n.2241+214A>T) c.2205+214A>T (n.2205+214A>T) c.2377A>T (p.Lys793Ter) c.2133+214A>T (n.2133+214A>T) c.1680-5989A>T (n.1680-5989A>T) c.2473A>T (p.Lys825Ter) c.2539A>T (p.Lys847Ter) c.2536A>T (p.Lys846Ter) c.2509A>T (p.Lys837Ter) c.2455A>T (p.Lys819Ter) c.2428A>T (p.Lys810Ter) c.2413A>T (p.Lys805Ter) c.2020A>T (p.Lys674Ter) c.2482A>T (p.Lys828Ter) c.2419A>T (p.Lys807Ter) c.2416A>T (p.Lys806Ter) c.2374A>T (p.Lys792Ter) c.1447A>T (p.Lys483Ter) | |
20 | g.63406832T>C | CA409637109 | KCNQ2 | c.2485A>G (p.Lys829Glu) c.2431A>G (p.Lys811Glu) c.1828A>G (p.Lys610Glu) c.2338A>G (p.Lys780Glu) c.1999A>G (p.Lys667Glu) c.2347A>G (p.Lys783Glu) c.2241+214A>G (n.2241+214A>G) c.2205+214A>G (n.2205+214A>G) c.2377A>G (p.Lys793Glu) c.2133+214A>G (n.2133+214A>G) c.1680-5989A>G (n.1680-5989A>G) c.2473A>G (p.Lys825Glu) c.2539A>G (p.Lys847Glu) c.2536A>G (p.Lys846Glu) c.2509A>G (p.Lys837Glu) c.2455A>G (p.Lys819Glu) c.2428A>G (p.Lys810Glu) c.2413A>G (p.Lys805Glu) c.2020A>G (p.Lys674Glu) c.2482A>G (p.Lys828Glu) c.2419A>G (p.Lys807Glu) c.2416A>G (p.Lys806Glu) c.2374A>G (p.Lys792Glu) c.1447A>G (p.Lys483Glu) | |
20 | g.63406832T>G | CA409637107 | KCNQ2 | c.2485A>C (p.Lys829Gln) c.2431A>C (p.Lys811Gln) c.1828A>C (p.Lys610Gln) c.2338A>C (p.Lys780Gln) c.1999A>C (p.Lys667Gln) c.2347A>C (p.Lys783Gln) c.2241+214A>C (n.2241+214A>C) c.2205+214A>C (n.2205+214A>C) c.2377A>C (p.Lys793Gln) c.2133+214A>C (n.2133+214A>C) c.1680-5989A>C (n.1680-5989A>C) c.2473A>C (p.Lys825Gln) c.2539A>C (p.Lys847Gln) c.2536A>C (p.Lys846Gln) c.2509A>C (p.Lys837Gln) c.2455A>C (p.Lys819Gln) c.2428A>C (p.Lys810Gln) c.2413A>C (p.Lys805Gln) c.2020A>C (p.Lys674Gln) c.2482A>C (p.Lys828Gln) c.2419A>C (p.Lys807Gln) c.2416A>C (p.Lys806Gln) c.2374A>C (p.Lys792Gln) c.1447A>C (p.Lys483Gln) | |
20 | g.63406833G>A | CA511339386 | KCNQ2 | c.2484C>T (p.Ser828=) c.2430C>T (p.Ser810=) c.1827C>T (p.Ser609=) c.2337C>T (p.Ser779=) c.1998C>T (p.Ser666=) c.2346C>T (p.Ser782=) c.2241+213C>T (n.2241+213C>T) c.2205+213C>T (n.2205+213C>T) c.2376C>T (p.Ser792=) c.2133+213C>T (n.2133+213C>T) c.1680-5990C>T (n.1680-5990C>T) c.2472C>T (p.Ser824=) c.2538C>T (p.Ser846=) c.2535C>T (p.Ser845=) c.2508C>T (p.Ser836=) c.2454C>T (p.Ser818=) c.2427C>T (p.Ser809=) c.2412C>T (p.Ser804=) c.2019C>T (p.Ser673=) c.2481C>T (p.Ser827=) c.2418C>T (p.Ser806=) c.2415C>T (p.Ser805=) c.2373C>T (p.Ser791=) c.1446C>T (p.Ser482=) | dbSNP |
20 | g.63406833G>C | CA511339387 | KCNQ2 | c.2484C>G (p.Ser828=) c.2430C>G (p.Ser810=) c.1827C>G (p.Ser609=) c.2337C>G (p.Ser779=) c.1998C>G (p.Ser666=) c.2346C>G (p.Ser782=) c.2241+213C>G (n.2241+213C>G) c.2205+213C>G (n.2205+213C>G) c.2376C>G (p.Ser792=) c.2133+213C>G (n.2133+213C>G) c.1680-5990C>G (n.1680-5990C>G) c.2472C>G (p.Ser824=) c.2538C>G (p.Ser846=) c.2535C>G (p.Ser845=) c.2508C>G (p.Ser836=) c.2454C>G (p.Ser818=) c.2427C>G (p.Ser809=) c.2412C>G (p.Ser804=) c.2019C>G (p.Ser673=) c.2481C>G (p.Ser827=) c.2418C>G (p.Ser806=) c.2415C>G (p.Ser805=) c.2373C>G (p.Ser791=) c.1446C>G (p.Ser482=) | gnomAD v4 |
20 | g.63406833G= | CA2374774263 | KCNQ2 | c.2484C= (p.Ser828=) c.2430C= (p.Ser810=) c.1827C= (p.Ser609=) c.2337C= (p.Ser779=) c.1998C= (p.Ser666=) c.2346C= (p.Ser782=) c.2241+213C= (n.2241+213C=) c.2205+213C= (n.2205+213C=) c.2376C= (p.Ser792=) c.2133+213C= (n.2133+213C=) c.1680-5990C= (n.1680-5990C=) c.2472C= (p.Ser824=) c.2538C= (p.Ser846=) c.2535C= (p.Ser845=) c.2508C= (p.Ser836=) c.2454C= (p.Ser818=) c.2427C= (p.Ser809=) c.2412C= (p.Ser804=) c.2019C= (p.Ser673=) c.2481C= (p.Ser827=) c.2418C= (p.Ser806=) c.2415C= (p.Ser805=) c.2373C= (p.Ser791=) c.1446C= (p.Ser482=) | |
20 | g.63406833G>T | CA511339390 | KCNQ2 | c.2484C>A (p.Ser828=) c.2430C>A (p.Ser810=) c.1827C>A (p.Ser609=) c.2337C>A (p.Ser779=) c.1998C>A (p.Ser666=) c.2346C>A (p.Ser782=) c.2241+213C>A (n.2241+213C>A) c.2205+213C>A (n.2205+213C>A) c.2376C>A (p.Ser792=) c.2133+213C>A (n.2133+213C>A) c.1680-5990C>A (n.1680-5990C>A) c.2472C>A (p.Ser824=) c.2538C>A (p.Ser846=) c.2535C>A (p.Ser845=) c.2508C>A (p.Ser836=) c.2454C>A (p.Ser818=) c.2427C>A (p.Ser809=) c.2412C>A (p.Ser804=) c.2019C>A (p.Ser673=) c.2481C>A (p.Ser827=) c.2418C>A (p.Ser806=) c.2415C>A (p.Ser805=) c.2373C>A (p.Ser791=) c.1446C>A (p.Ser482=) | |
20 | g.63406834G>A | CA409637113 | KCNQ2 | c.2483C>T (p.Ser828Phe) c.2429C>T (p.Ser810Phe) c.1826C>T (p.Ser609Phe) c.2336C>T (p.Ser779Phe) c.1997C>T (p.Ser666Phe) c.2345C>T (p.Ser782Phe) c.2241+212C>T (n.2241+212C>T) c.2205+212C>T (n.2205+212C>T) c.2375C>T (p.Ser792Phe) c.2133+212C>T (n.2133+212C>T) c.1680-5991C>T (n.1680-5991C>T) c.2471C>T (p.Ser824Phe) c.2537C>T (p.Ser846Phe) c.2534C>T (p.Ser845Phe) c.2507C>T (p.Ser836Phe) c.2453C>T (p.Ser818Phe) c.2426C>T (p.Ser809Phe) c.2411C>T (p.Ser804Phe) c.2018C>T (p.Ser673Phe) c.2480C>T (p.Ser827Phe) c.2417C>T (p.Ser806Phe) c.2414C>T (p.Ser805Phe) c.2372C>T (p.Ser791Phe) c.1445C>T (p.Ser482Phe) | |
20 | g.63406834G>C | CA409637117 | KCNQ2 | c.2483C>G (p.Ser828Cys) c.2429C>G (p.Ser810Cys) c.1826C>G (p.Ser609Cys) c.2336C>G (p.Ser779Cys) c.1997C>G (p.Ser666Cys) c.2345C>G (p.Ser782Cys) c.2241+212C>G (n.2241+212C>G) c.2205+212C>G (n.2205+212C>G) c.2375C>G (p.Ser792Cys) c.2133+212C>G (n.2133+212C>G) c.1680-5991C>G (n.1680-5991C>G) c.2471C>G (p.Ser824Cys) c.2537C>G (p.Ser846Cys) c.2534C>G (p.Ser845Cys) c.2507C>G (p.Ser836Cys) c.2453C>G (p.Ser818Cys) c.2426C>G (p.Ser809Cys) c.2411C>G (p.Ser804Cys) c.2018C>G (p.Ser673Cys) c.2480C>G (p.Ser827Cys) c.2417C>G (p.Ser806Cys) c.2414C>G (p.Ser805Cys) c.2372C>G (p.Ser791Cys) c.1445C>G (p.Ser482Cys) | |
20 | g.63406834G>T | CA409637115 | KCNQ2 | c.2483C>A (p.Ser828Tyr) c.2429C>A (p.Ser810Tyr) c.1826C>A (p.Ser609Tyr) c.2336C>A (p.Ser779Tyr) c.1997C>A (p.Ser666Tyr) c.2345C>A (p.Ser782Tyr) c.2241+212C>A (n.2241+212C>A) c.2205+212C>A (n.2205+212C>A) c.2375C>A (p.Ser792Tyr) c.2133+212C>A (n.2133+212C>A) c.1680-5991C>A (n.1680-5991C>A) c.2471C>A (p.Ser824Tyr) c.2537C>A (p.Ser846Tyr) c.2534C>A (p.Ser845Tyr) c.2507C>A (p.Ser836Tyr) c.2453C>A (p.Ser818Tyr) c.2426C>A (p.Ser809Tyr) c.2411C>A (p.Ser804Tyr) c.2018C>A (p.Ser673Tyr) c.2480C>A (p.Ser827Tyr) c.2417C>A (p.Ser806Tyr) c.2414C>A (p.Ser805Tyr) c.2372C>A (p.Ser791Tyr) c.1445C>A (p.Ser482Tyr) | gnomAD v4 |
20 | g.63406835A= | CA2374774264 | KCNQ2 | c.2482T= (p.Ser828=) c.2428T= (p.Ser810=) c.1825T= (p.Ser609=) c.2335T= (p.Ser779=) c.1996T= (p.Ser666=) c.2344T= (p.Ser782=) c.2241+211T= (n.2241+211T=) c.2205+211T= (n.2205+211T=) c.2374T= (p.Ser792=) c.2133+211T= (n.2133+211T=) c.1680-5992T= (n.1680-5992T=) c.2470T= (p.Ser824=) c.2536T= (p.Ser846=) c.2533T= (p.Ser845=) c.2506T= (p.Ser836=) c.2452T= (p.Ser818=) c.2425T= (p.Ser809=) c.2410T= (p.Ser804=) c.2017T= (p.Ser673=) c.2479T= (p.Ser827=) c.2416T= (p.Ser806=) c.2413T= (p.Ser805=) c.2371T= (p.Ser791=) c.1444T= (p.Ser482=) | |
20 | g.63406835A>C | CA409637119 | KCNQ2 | c.2482T>G (p.Ser828Ala) c.2428T>G (p.Ser810Ala) c.1825T>G (p.Ser609Ala) c.2335T>G (p.Ser779Ala) c.1996T>G (p.Ser666Ala) c.2344T>G (p.Ser782Ala) c.2241+211T>G (n.2241+211T>G) c.2205+211T>G (n.2205+211T>G) c.2374T>G (p.Ser792Ala) c.2133+211T>G (n.2133+211T>G) c.1680-5992T>G (n.1680-5992T>G) c.2470T>G (p.Ser824Ala) c.2536T>G (p.Ser846Ala) c.2533T>G (p.Ser845Ala) c.2506T>G (p.Ser836Ala) c.2452T>G (p.Ser818Ala) c.2425T>G (p.Ser809Ala) c.2410T>G (p.Ser804Ala) c.2017T>G (p.Ser673Ala) c.2479T>G (p.Ser827Ala) c.2416T>G (p.Ser806Ala) c.2413T>G (p.Ser805Ala) c.2371T>G (p.Ser791Ala) c.1444T>G (p.Ser482Ala) | |
20 | g.63406835A>G | CA409637123 | KCNQ2 | c.2482T>C (p.Ser828Pro) c.2428T>C (p.Ser810Pro) c.1825T>C (p.Ser609Pro) c.2335T>C (p.Ser779Pro) c.1996T>C (p.Ser666Pro) c.2344T>C (p.Ser782Pro) c.2241+211T>C (n.2241+211T>C) c.2205+211T>C (n.2205+211T>C) c.2374T>C (p.Ser792Pro) c.2133+211T>C (n.2133+211T>C) c.1680-5992T>C (n.1680-5992T>C) c.2470T>C (p.Ser824Pro) c.2536T>C (p.Ser846Pro) c.2533T>C (p.Ser845Pro) c.2506T>C (p.Ser836Pro) c.2452T>C (p.Ser818Pro) c.2425T>C (p.Ser809Pro) c.2410T>C (p.Ser804Pro) c.2017T>C (p.Ser673Pro) c.2479T>C (p.Ser827Pro) c.2416T>C (p.Ser806Pro) c.2413T>C (p.Ser805Pro) c.2371T>C (p.Ser791Pro) c.1444T>C (p.Ser482Pro) | |
20 | g.63406835A>T | CA409637125 | KCNQ2 | c.2482T>A (p.Ser828Thr) c.2428T>A (p.Ser810Thr) c.1825T>A (p.Ser609Thr) c.2335T>A (p.Ser779Thr) c.1996T>A (p.Ser666Thr) c.2344T>A (p.Ser782Thr) c.2241+211T>A (n.2241+211T>A) c.2205+211T>A (n.2205+211T>A) c.2374T>A (p.Ser792Thr) c.2133+211T>A (n.2133+211T>A) c.1680-5992T>A (n.1680-5992T>A) c.2470T>A (p.Ser824Thr) c.2536T>A (p.Ser846Thr) c.2533T>A (p.Ser845Thr) c.2506T>A (p.Ser836Thr) c.2452T>A (p.Ser818Thr) c.2425T>A (p.Ser809Thr) c.2410T>A (p.Ser804Thr) c.2017T>A (p.Ser673Thr) c.2479T>A (p.Ser827Thr) c.2416T>A (p.Ser806Thr) c.2413T>A (p.Ser805Thr) c.2371T>A (p.Ser791Thr) c.1444T>A (p.Ser482Thr) | dbSNP gnomAD v2 gnomAD v4 |