Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150948868G>A | CA458645118 | KCNH2 | n.3413C>T c.2580C>T (p.Phe860=) c.1560C>T (p.Phe520=) c.2280C>T (p.Phe760=) c.2430C>T (p.Phe810=) c.2403C>T (p.Phe801=) | |
7 | g.150948868G>C | CA369854707 | KCNH2 | n.3413C>G c.2580C>G (p.Phe860Leu) c.1560C>G (p.Phe520Leu) c.2280C>G (p.Phe760Leu) c.2430C>G (p.Phe810Leu) c.2403C>G (p.Phe801Leu) | |
7 | g.150948868G>T | CA369854709 | KCNH2 | n.3413C>A c.2580C>A (p.Phe860Leu) c.1560C>A (p.Phe520Leu) c.2280C>A (p.Phe760Leu) c.2430C>A (p.Phe810Leu) c.2403C>A (p.Phe801Leu) | |
7 | g.150948869A>C | CA369854711 | KCNH2 | n.3412T>G c.2579T>G (p.Phe860Cys) c.1559T>G (p.Phe520Cys) c.2279T>G (p.Phe760Cys) c.2429T>G (p.Phe810Cys) c.2402T>G (p.Phe801Cys) | |
7 | g.150948869A>G | CA369854713 | KCNH2 | n.3412T>C c.2579T>C (p.Phe860Ser) c.1559T>C (p.Phe520Ser) c.2279T>C (p.Phe760Ser) c.2429T>C (p.Phe810Ser) c.2402T>C (p.Phe801Ser) | |
7 | g.150948869A>T | CA369854715 | KCNH2 | n.3412T>A c.2579T>A (p.Phe860Tyr) c.1559T>A (p.Phe520Tyr) c.2279T>A (p.Phe760Tyr) c.2429T>A (p.Phe810Tyr) c.2402T>A (p.Phe801Tyr) | |
7 | g.150948870A>C | CA369854716 | KCNH2 | n.3411T>G c.2578T>G (p.Phe860Val) c.1558T>G (p.Phe520Val) c.2278T>G (p.Phe760Val) c.2428T>G (p.Phe810Val) c.2401T>G (p.Phe801Val) | |
7 | g.150948870A>G | CA369854718 | KCNH2 | n.3411T>C c.2578T>C (p.Phe860Leu) c.1558T>C (p.Phe520Leu) c.2278T>C (p.Phe760Leu) c.2428T>C (p.Phe810Leu) c.2401T>C (p.Phe801Leu) | |
7 | g.150948870A>T | CA369854719 | KCNH2 | n.3411T>A c.2578T>A (p.Phe860Ile) c.1558T>A (p.Phe520Ile) c.2278T>A (p.Phe760Ile) c.2428T>A (p.Phe810Ile) c.2401T>A (p.Phe801Ile) | |
7 | g.150948871G>A | CA458645119 | KCNH2 | n.3410C>T c.2577C>T (p.Thr859=) c.1557C>T (p.Thr519=) c.2277C>T (p.Thr759=) c.2427C>T (p.Thr809=) c.2400C>T (p.Thr800=) | ClinVar gnomAD v4 |
7 | g.150948871G>C | CA458645120 | KCNH2 | n.3410C>G c.2577C>G (p.Thr859=) c.1557C>G (p.Thr519=) c.2277C>G (p.Thr759=) c.2427C>G (p.Thr809=) c.2400C>G (p.Thr800=) | ClinVar dbSNP |
7 | g.150948871G= | CA1752431843 | KCNH2 | n.3410C= c.2577C= (p.Thr859=) c.1557C= (p.Thr519=) c.2277C= (p.Thr759=) c.2427C= (p.Thr809=) c.2400C= (p.Thr800=) | |
7 | g.150948871G>T | CA16612188 | KCNH2 | n.3410C>A c.2577C>A (p.Thr859=) c.1557C>A (p.Thr519=) c.2277C>A (p.Thr759=) c.2427C>A (p.Thr809=) c.2400C>A (p.Thr800=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948872G>A | CA006952 | KCNH2 | n.3409C>T c.2576C>T (p.Thr859Ile) c.1556C>T (p.Thr519Ile) c.2276C>T (p.Thr759Ile) c.2426C>T (p.Thr809Ile) c.2399C>T (p.Thr800Ile) | ClinVar dbSNP |
7 | g.150948872G>C | CA369854721 | KCNH2 | n.3409C>G c.2576C>G (p.Thr859Ser) c.1556C>G (p.Thr519Ser) c.2276C>G (p.Thr759Ser) c.2426C>G (p.Thr809Ser) c.2399C>G (p.Thr800Ser) | |
7 | g.150948872G= | CA1752431846 | KCNH2 | n.3409C= c.2576C= (p.Thr859=) c.1556C= (p.Thr519=) c.2276C= (p.Thr759=) c.2426C= (p.Thr809=) c.2399C= (p.Thr800=) | |
7 | g.150948872G>T | CA369854722 | KCNH2 | n.3409C>A c.2576C>A (p.Thr859Asn) c.1556C>A (p.Thr519Asn) c.2276C>A (p.Thr759Asn) c.2426C>A (p.Thr809Asn) c.2399C>A (p.Thr800Asn) | |
7 | g.150948873T>A | CA369854724 | KCNH2 | n.3408A>T c.2575A>T (p.Thr859Ser) c.1555A>T (p.Thr519Ser) c.2275A>T (p.Thr759Ser) c.2425A>T (p.Thr809Ser) c.2398A>T (p.Thr800Ser) | |
7 | g.150948873T>C | CA369854726 | KCNH2 | n.3408A>G c.2575A>G (p.Thr859Ala) c.1555A>G (p.Thr519Ala) c.2275A>G (p.Thr759Ala) c.2425A>G (p.Thr809Ala) c.2398A>G (p.Thr800Ala) | |
7 | g.150948873T>G | CA369854728 | KCNH2 | n.3408A>C c.2575A>C (p.Thr859Pro) c.1555A>C (p.Thr519Pro) c.2275A>C (p.Thr759Pro) c.2425A>C (p.Thr809Pro) c.2398A>C (p.Thr800Pro) | |
7 | g.150948874G>A | CA458645121 | KCNH2 | n.3407C>T c.2574C>T (p.Ile858=) c.1554C>T (p.Ile518=) c.2274C>T (p.Ile758=) c.2424C>T (p.Ile808=) c.2397C>T (p.Ile799=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948874G>C | CA369854730 | KCNH2 | n.3407C>G c.2574C>G (p.Ile858Met) c.1554C>G (p.Ile518Met) c.2274C>G (p.Ile758Met) c.2424C>G (p.Ile808Met) c.2397C>G (p.Ile799Met) | |
7 | g.150948874G= | CA1752431850 | KCNH2 | n.3407C= c.2574C= (p.Ile858=) c.1554C= (p.Ile518=) c.2274C= (p.Ile758=) c.2424C= (p.Ile808=) c.2397C= (p.Ile799=) | |
7 | g.150948874G>T | CA458645122 | KCNH2 | n.3407C>A c.2574C>A (p.Ile858=) c.1554C>A (p.Ile518=) c.2274C>A (p.Ile758=) c.2424C>A (p.Ile808=) c.2397C>A (p.Ile799=) | |
7 | g.150948875A= | CA1752431852 | KCNH2 | n.3406T= c.2573T= (p.Ile858=) c.1553T= (p.Ile518=) c.2273T= (p.Ile758=) c.2423T= (p.Ile808=) c.2396T= (p.Ile799=) | |
7 | g.150948875A>C | CA369854732 | KCNH2 | n.3406T>G c.2573T>G (p.Ile858Ser) c.1553T>G (p.Ile518Ser) c.2273T>G (p.Ile758Ser) c.2423T>G (p.Ile808Ser) c.2396T>G (p.Ile799Ser) | |
7 | g.150948875A>G | CA006942 | KCNH2 | n.3406T>C c.2573T>C (p.Ile858Thr) c.1553T>C (p.Ile518Thr) c.2273T>C (p.Ile758Thr) c.2423T>C (p.Ile808Thr) c.2396T>C (p.Ile799Thr) | ClinVar dbSNP |
7 | g.150948875A>T | CA369854734 | KCNH2 | n.3406T>A c.2573T>A (p.Ile858Asn) c.1553T>A (p.Ile518Asn) c.2273T>A (p.Ile758Asn) c.2423T>A (p.Ile808Asn) c.2396T>A (p.Ile799Asn) | |
7 | g.150948876T>A | CA369854737 | KCNH2 | n.3405A>T c.2572A>T (p.Ile858Phe) c.1552A>T (p.Ile518Phe) c.2272A>T (p.Ile758Phe) c.2422A>T (p.Ile808Phe) c.2395A>T (p.Ile799Phe) | |
7 | g.150948876T>C | CA033047 | KCNH2 | n.3405A>G c.2572A>G (p.Ile858Val) c.1552A>G (p.Ile518Val) c.2272A>G (p.Ile758Val) c.2422A>G (p.Ile808Val) c.2395A>G (p.Ile799Val) | dbSNP ExAC gnomAD v2 |
7 | g.150948876T>G | CA369854739 | KCNH2 | n.3405A>C c.2572A>C (p.Ile858Leu) c.1552A>C (p.Ile518Leu) c.2272A>C (p.Ile758Leu) c.2422A>C (p.Ile808Leu) c.2395A>C (p.Ile799Leu) | |
7 | g.150948876T= | CA1752431856 | KCNH2 | n.3405A= c.2572A= (p.Ile858=) c.1552A= (p.Ile518=) c.2272A= (p.Ile758=) c.2422A= (p.Ile808=) c.2395A= (p.Ile799=) | |
7 | g.150948877C>A | CA369854741 | KCNH2 | n.3404G>T c.2571G>T (p.Glu857Asp) c.1551G>T (p.Glu517Asp) c.2271G>T (p.Glu757Asp) c.2421G>T (p.Glu807Asp) c.2394G>T (p.Glu798Asp) | |
7 | g.150948877C>G | CA369854743 | KCNH2 | n.3404G>C c.2571G>C (p.Glu857Asp) c.1551G>C (p.Glu517Asp) c.2271G>C (p.Glu757Asp) c.2421G>C (p.Glu807Asp) c.2394G>C (p.Glu798Asp) | |
7 | g.150948877C>T | CA458645123 | KCNH2 | n.3404G>A c.2571G>A (p.Glu857=) c.1551G>A (p.Glu517=) c.2271G>A (p.Glu757=) c.2421G>A (p.Glu807=) c.2394G>A (p.Glu798=) | gnomAD v4 |
7 | g.150948878T>A | CA369854746 | KCNH2 | n.3403A>T c.2570A>T (p.Glu857Val) c.1550A>T (p.Glu517Val) c.2270A>T (p.Glu757Val) c.2420A>T (p.Glu807Val) c.2393A>T (p.Glu798Val) | |
7 | g.150948878T>C | CA369854748 | KCNH2 | n.3403A>G c.2570A>G (p.Glu857Gly) c.1550A>G (p.Glu517Gly) c.2270A>G (p.Glu757Gly) c.2420A>G (p.Glu807Gly) c.2393A>G (p.Glu798Gly) | |
7 | g.150948878T>G | CA369854749 | KCNH2 | n.3403A>C c.2570A>C (p.Glu857Ala) c.1550A>C (p.Glu517Ala) c.2270A>C (p.Glu757Ala) c.2420A>C (p.Glu807Ala) c.2393A>C (p.Glu798Ala) | |
7 | g.150948879C>A | CA369854752 | KCNH2 | n.3402G>T c.2569G>T (p.Glu857Ter) c.1549G>T (p.Glu517Ter) c.2269G>T (p.Glu757Ter) c.2419G>T (p.Glu807Ter) c.2392G>T (p.Glu798Ter) | |
7 | g.150948879C>G | CA369854753 | KCNH2 | n.3402G>C c.2569G>C (p.Glu857Gln) c.1549G>C (p.Glu517Gln) c.2269G>C (p.Glu757Gln) c.2419G>C (p.Glu807Gln) c.2392G>C (p.Glu798Gln) | |
7 | g.150948879C>T | CA369854754 | KCNH2 | n.3402G>A c.2569G>A (p.Glu857Lys) c.1549G>A (p.Glu517Lys) c.2269G>A (p.Glu757Lys) c.2419G>A (p.Glu807Lys) c.2392G>A (p.Glu798Lys) | COSMIC COSMIC |
7 | g.150948880C>A | CA458645125 | KCNH2 | n.3401G>T c.2568G>T (p.Leu856=) c.1548G>T (p.Leu516=) c.2268G>T (p.Leu756=) c.2418G>T (p.Leu806=) c.2391G>T (p.Leu797=) | |
7 | g.150948880C= | CA1752431858 | KCNH2 | n.3401G= c.2568G= (p.Leu856=) c.1548G= (p.Leu516=) c.2268G= (p.Leu756=) c.2418G= (p.Leu806=) c.2391G= (p.Leu797=) | |
7 | g.150948880C>G | CA458645124 | KCNH2 | n.3401G>C c.2568G>C (p.Leu856=) c.1548G>C (p.Leu516=) c.2268G>C (p.Leu756=) c.2418G>C (p.Leu806=) c.2391G>C (p.Leu797=) | |
7 | g.150948880C>T | CA458645126 | KCNH2 | n.3401G>A c.2568G>A (p.Leu856=) c.1548G>A (p.Leu516=) c.2268G>A (p.Leu756=) c.2418G>A (p.Leu806=) c.2391G>A (p.Leu797=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948881A>C | CA369854755 | KCNH2 | n.3400T>G c.2567T>G (p.Leu856Arg) c.1547T>G (p.Leu516Arg) c.2267T>G (p.Leu756Arg) c.2417T>G (p.Leu806Arg) c.2390T>G (p.Leu797Arg) | |
7 | g.150948881A>G | CA369854756 | KCNH2 | n.3400T>C c.2567T>C (p.Leu856Pro) c.1547T>C (p.Leu516Pro) c.2267T>C (p.Leu756Pro) c.2417T>C (p.Leu806Pro) c.2390T>C (p.Leu797Pro) | |
7 | g.150948881A>T | CA369854757 | KCNH2 | n.3400T>A c.2567T>A (p.Leu856Gln) c.1547T>A (p.Leu516Gln) c.2267T>A (p.Leu756Gln) c.2417T>A (p.Leu806Gln) c.2390T>A (p.Leu797Gln) | |
7 | g.150948881dup | CA2580077784 | KCNH2 | n.3400dup c.2567dup (p.Glu857GlyfsTer?) c.1547dup (p.Glu517GlyfsTer?) c.2267dup (p.Glu757GlyfsTer?) c.2417dup (p.Glu807GlyfsTer?) c.2390dup (p.Glu798GlyfsTer?) | ClinVar |
7 | g.150948882G>A | CA458645127 | KCNH2 | n.3399C>T c.2566C>T (p.Leu856=) c.1546C>T (p.Leu516=) c.2266C>T (p.Leu756=) c.2416C>T (p.Leu806=) c.2389C>T (p.Leu797=) | ClinVar |
7 | g.150948882G>C | CA369854759 | KCNH2 | n.3399C>G c.2566C>G (p.Leu856Val) c.1546C>G (p.Leu516Val) c.2266C>G (p.Leu756Val) c.2416C>G (p.Leu806Val) c.2389C>G (p.Leu797Val) | ClinVar dbSNP |
7 | g.150948882G= | CA1752431861 | KCNH2 | n.3399C= c.2566C= (p.Leu856=) c.1546C= (p.Leu516=) c.2266C= (p.Leu756=) c.2416C= (p.Leu806=) c.2389C= (p.Leu797=) | |
7 | g.150948882G>T | CA369854761 | KCNH2 | n.3399C>A c.2566C>A (p.Leu856Met) c.1546C>A (p.Leu516Met) c.2266C>A (p.Leu756Met) c.2416C>A (p.Leu806Met) c.2389C>A (p.Leu797Met) | |
7 | g.150948883G>A | CA458645128 | KCNH2 | n.3398C>T c.2565C>T (p.Ser855=) c.1545C>T (p.Ser515=) c.2265C>T (p.Ser755=) c.2415C>T (p.Ser805=) c.2388C>T (p.Ser796=) | |
7 | g.150948883G>C | CA369854763 | KCNH2 | n.3398C>G c.2565C>G (p.Ser855Arg) c.1545C>G (p.Ser515Arg) c.2265C>G (p.Ser755Arg) c.2415C>G (p.Ser805Arg) c.2388C>G (p.Ser796Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948883G= | CA1752431866 | KCNH2 | n.3398C= c.2565C= (p.Ser855=) c.1545C= (p.Ser515=) c.2265C= (p.Ser755=) c.2415C= (p.Ser805=) c.2388C= (p.Ser796=) | |
7 | g.150948883G>T | CA369854764 | KCNH2 | n.3398C>A c.2565C>A (p.Ser855Arg) c.1545C>A (p.Ser515Arg) c.2265C>A (p.Ser755Arg) c.2415C>A (p.Ser805Arg) c.2388C>A (p.Ser796Arg) | gnomAD v4 |
7 | g.150948884C>A | CA369854767 | KCNH2 | n.3397G>T c.2564G>T (p.Ser855Ile) c.1544G>T (p.Ser515Ile) c.2264G>T (p.Ser755Ile) c.2414G>T (p.Ser805Ile) c.2387G>T (p.Ser796Ile) | |
7 | g.150948884C>G | CA369854769 | KCNH2 | n.3397G>C c.2564G>C (p.Ser855Thr) c.1544G>C (p.Ser515Thr) c.2264G>C (p.Ser755Thr) c.2414G>C (p.Ser805Thr) c.2387G>C (p.Ser796Thr) | |
7 | g.150948884C>T | CA369854770 | KCNH2 | n.3397G>A c.2564G>A (p.Ser855Asn) c.1544G>A (p.Ser515Asn) c.2264G>A (p.Ser755Asn) c.2414G>A (p.Ser805Asn) c.2387G>A (p.Ser796Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.150948885T>A | CA369854771 | KCNH2 | n.3396A>T c.2563A>T (p.Ser855Cys) c.1543A>T (p.Ser515Cys) c.2263A>T (p.Ser755Cys) c.2413A>T (p.Ser805Cys) c.2386A>T (p.Ser796Cys) | |
7 | g.150948885T>C | CA369854773 | KCNH2 | n.3396A>G c.2563A>G (p.Ser855Gly) c.1543A>G (p.Ser515Gly) c.2263A>G (p.Ser755Gly) c.2413A>G (p.Ser805Gly) c.2386A>G (p.Ser796Gly) | |
7 | g.150948885T>G | CA369854775 | KCNH2 | n.3396A>C c.2563A>C (p.Ser855Arg) c.1543A>C (p.Ser515Arg) c.2263A>C (p.Ser755Arg) c.2413A>C (p.Ser805Arg) c.2386A>C (p.Ser796Arg) | |
7 | g.150948886G>A | CA169074743 | KCNH2 | n.3395C>T c.2562C>T (p.Ser854=) c.1542C>T (p.Ser514=) c.2262C>T (p.Ser754=) c.2412C>T (p.Ser804=) c.2385C>T (p.Ser795=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948886G>C | CA458645129 | KCNH2 | n.3395C>G c.2562C>G (p.Ser854=) c.1542C>G (p.Ser514=) c.2262C>G (p.Ser754=) c.2412C>G (p.Ser804=) c.2385C>G (p.Ser795=) | |
7 | g.150948886G= | CA1752431869 | KCNH2 | n.3395C= c.2562C= (p.Ser854=) c.1542C= (p.Ser514=) c.2262C= (p.Ser754=) c.2412C= (p.Ser804=) c.2385C= (p.Ser795=) | |
7 | g.150948886G>T | CA458645130 | KCNH2 | n.3395C>A c.2562C>A (p.Ser854=) c.1542C>A (p.Ser514=) c.2262C>A (p.Ser754=) c.2412C>A (p.Ser804=) c.2385C>A (p.Ser795=) | |
7 | g.150948887G>A | CA369854777 | KCNH2 | n.3394C>T c.2561C>T (p.Ser854Phe) c.1541C>T (p.Ser514Phe) c.2261C>T (p.Ser754Phe) c.2411C>T (p.Ser804Phe) c.2384C>T (p.Ser795Phe) | |
7 | g.150948887G>C | CA369854779 | KCNH2 | n.3394C>G c.2561C>G (p.Ser854Cys) c.1541C>G (p.Ser514Cys) c.2261C>G (p.Ser754Cys) c.2411C>G (p.Ser804Cys) c.2384C>G (p.Ser795Cys) | |
7 | g.150948887G>T | CA369854781 | KCNH2 | n.3394C>A c.2561C>A (p.Ser854Tyr) c.1541C>A (p.Ser514Tyr) c.2261C>A (p.Ser754Tyr) c.2411C>A (p.Ser804Tyr) c.2384C>A (p.Ser795Tyr) | |
7 | g.150948888A>C | CA369854787 | KCNH2 | n.3393T>G c.2560T>G (p.Ser854Ala) c.1540T>G (p.Ser514Ala) c.2260T>G (p.Ser754Ala) c.2410T>G (p.Ser804Ala) c.2383T>G (p.Ser795Ala) | gnomAD v4 |
7 | g.150948888A>G | CA369854783 | KCNH2 | n.3393T>C c.2560T>C (p.Ser854Pro) c.1540T>C (p.Ser514Pro) c.2260T>C (p.Ser754Pro) c.2410T>C (p.Ser804Pro) c.2383T>C (p.Ser795Pro) | |
7 | g.150948888A>T | CA369854785 | KCNH2 | n.3393T>A c.2560T>A (p.Ser854Thr) c.1540T>A (p.Ser514Thr) c.2260T>A (p.Ser754Thr) c.2410T>A (p.Ser804Thr) c.2383T>A (p.Ser795Thr) | |
7 | g.150948889C>A | CA369854789 | KCNH2 | n.3392G>T c.2559G>T (p.Trp853Cys) c.1539G>T (p.Trp513Cys) c.2259G>T (p.Trp753Cys) c.2409G>T (p.Trp803Cys) c.2382G>T (p.Trp794Cys) | |
7 | g.150948889C>G | CA369854793 | KCNH2 | n.3392G>C c.2559G>C (p.Trp853Cys) c.1539G>C (p.Trp513Cys) c.2259G>C (p.Trp753Cys) c.2409G>C (p.Trp803Cys) c.2382G>C (p.Trp794Cys) | |
7 | g.150948889C>T | CA369854791 | KCNH2 | n.3392G>A c.2559G>A (p.Trp853Ter) c.1539G>A (p.Trp513Ter) c.2259G>A (p.Trp753Ter) c.2409G>A (p.Trp803Ter) c.2382G>A (p.Trp794Ter) | ClinVar dbSNP |
7 | g.150948890del | CA2695208824 | KCNH2 | n.3392del c.2559del (p.Trp853CysfsTer15) c.1539del (p.Trp513CysfsTer15) c.2259del (p.Trp753CysfsTer15) c.2409del (p.Trp803CysfsTer15) c.2382del (p.Trp794CysfsTer15) | |
7 | g.150948890C>A | CA369854795 | KCNH2 | n.3391G>T c.2558G>T (p.Trp853Leu) c.1538G>T (p.Trp513Leu) c.2258G>T (p.Trp753Leu) c.2408G>T (p.Trp803Leu) c.2381G>T (p.Trp794Leu) | |
7 | g.150948890C>G | CA369854798 | KCNH2 | n.3391G>C c.2558G>C (p.Trp853Ser) c.1538G>C (p.Trp513Ser) c.2258G>C (p.Trp753Ser) c.2408G>C (p.Trp803Ser) c.2381G>C (p.Trp794Ser) | |
7 | g.150948890C>T | CA369854796 | KCNH2 | n.3391G>A c.2558G>A (p.Trp853Ter) c.1538G>A (p.Trp513Ter) c.2258G>A (p.Trp753Ter) c.2408G>A (p.Trp803Ter) c.2381G>A (p.Trp794Ter) | |
7 | g.150948891A>C | CA369854800 | KCNH2 | n.3390T>G c.2557T>G (p.Trp853Gly) c.1537T>G (p.Trp513Gly) c.2257T>G (p.Trp753Gly) c.2407T>G (p.Trp803Gly) c.2380T>G (p.Trp794Gly) | |
7 | g.150948891A>G | CA369854802 | KCNH2 | n.3390T>C c.2557T>C (p.Trp853Arg) c.1537T>C (p.Trp513Arg) c.2257T>C (p.Trp753Arg) c.2407T>C (p.Trp803Arg) c.2380T>C (p.Trp794Arg) | |
7 | g.150948891A>T | CA369854803 | KCNH2 | n.3390T>A c.2557T>A (p.Trp853Arg) c.1537T>A (p.Trp513Arg) c.2257T>A (p.Trp753Arg) c.2407T>A (p.Trp803Arg) c.2380T>A (p.Trp794Arg) | |
7 | g.150948892G>A | CA458645131 | KCNH2 | n.3389C>T c.2556C>T (p.Phe852=) c.1536C>T (p.Phe512=) c.2256C>T (p.Phe752=) c.2406C>T (p.Phe802=) c.2379C>T (p.Phe793=) | |
7 | g.150948892G>C | CA369854805 | KCNH2 | n.3389C>G c.2556C>G (p.Phe852Leu) c.1536C>G (p.Phe512Leu) c.2256C>G (p.Phe752Leu) c.2406C>G (p.Phe802Leu) c.2379C>G (p.Phe793Leu) | |
7 | g.150948892G>T | CA369854807 | KCNH2 | n.3389C>A c.2556C>A (p.Phe852Leu) c.1536C>A (p.Phe512Leu) c.2256C>A (p.Phe752Leu) c.2406C>A (p.Phe802Leu) c.2379C>A (p.Phe793Leu) | |
7 | g.150948893A>C | CA369854808 | KCNH2 | n.3388T>G c.2555T>G (p.Phe852Cys) c.1535T>G (p.Phe512Cys) c.2255T>G (p.Phe752Cys) c.2405T>G (p.Phe802Cys) c.2378T>G (p.Phe793Cys) | |
7 | g.150948893A>G | CA369854810 | KCNH2 | n.3388T>C c.2555T>C (p.Phe852Ser) c.1535T>C (p.Phe512Ser) c.2255T>C (p.Phe752Ser) c.2405T>C (p.Phe802Ser) c.2378T>C (p.Phe793Ser) | |
7 | g.150948893A>T | CA369854812 | KCNH2 | n.3388T>A c.2555T>A (p.Phe852Tyr) c.1535T>A (p.Phe512Tyr) c.2255T>A (p.Phe752Tyr) c.2405T>A (p.Phe802Tyr) c.2378T>A (p.Phe793Tyr) | |
7 | g.150948894del | CA2499218794 | KCNH2 | n.3388del c.2555del (p.Phe852SerfsTer16) c.1535del (p.Phe512SerfsTer16) c.2255del (p.Phe752SerfsTer16) c.2405del (p.Phe802SerfsTer16) c.2378del (p.Phe793SerfsTer16) | ClinVar dbSNP |
7 | g.150948894A>C | CA369854814 | KCNH2 | n.3387T>G c.2554T>G (p.Phe852Val) c.1534T>G (p.Phe512Val) c.2254T>G (p.Phe752Val) c.2404T>G (p.Phe802Val) c.2377T>G (p.Phe793Val) | |
7 | g.150948894A>G | CA369854816 | KCNH2 | n.3387T>C c.2554T>C (p.Phe852Leu) c.1534T>C (p.Phe512Leu) c.2254T>C (p.Phe752Leu) c.2404T>C (p.Phe802Leu) c.2377T>C (p.Phe793Leu) | |
7 | g.150948894A>T | CA369854818 | KCNH2 | n.3387T>A c.2554T>A (p.Phe852Ile) c.1534T>A (p.Phe512Ile) c.2254T>A (p.Phe752Ile) c.2404T>A (p.Phe802Ile) c.2377T>A (p.Phe793Ile) | |
7 | g.150948895G>A | CA458645132 | KCNH2 | n.3386C>T c.2553C>T (p.His851=) c.1533C>T (p.His511=) c.2253C>T (p.His751=) c.2403C>T (p.His801=) c.2376C>T (p.His792=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948895G>C | CA369854820 | KCNH2 | n.3386C>G c.2553C>G (p.His851Gln) c.1533C>G (p.His511Gln) c.2253C>G (p.His751Gln) c.2403C>G (p.His801Gln) c.2376C>G (p.His792Gln) | |
7 | g.150948895G= | CA1752431873 | KCNH2 | n.3386C= c.2553C= (p.His851=) c.1533C= (p.His511=) c.2253C= (p.His751=) c.2403C= (p.His801=) c.2376C= (p.His792=) | |
7 | g.150948895G>T | CA369854822 | KCNH2 | n.3386C>A c.2553C>A (p.His851Gln) c.1533C>A (p.His511Gln) c.2253C>A (p.His751Gln) c.2403C>A (p.His801Gln) c.2376C>A (p.His792Gln) | |
7 | g.150948896T>A | CA369854824 | KCNH2 | n.3385A>T c.2552A>T (p.His851Leu) c.1532A>T (p.His511Leu) c.2252A>T (p.His751Leu) c.2402A>T (p.His801Leu) c.2375A>T (p.His792Leu) | |
7 | g.150948896T>C | CA369854827 | KCNH2 | n.3385A>G c.2552A>G (p.His851Arg) c.1532A>G (p.His511Arg) c.2252A>G (p.His751Arg) c.2402A>G (p.His801Arg) c.2375A>G (p.His792Arg) | |
7 | g.150948896T>G | CA369854826 | KCNH2 | n.3385A>C c.2552A>C (p.His851Pro) c.1532A>C (p.His511Pro) c.2252A>C (p.His751Pro) c.2402A>C (p.His801Pro) c.2375A>C (p.His792Pro) | |
7 | g.150948897G>A | CA369854829 | KCNH2 | n.3384C>T c.2551C>T (p.His851Tyr) c.1531C>T (p.His511Tyr) c.2251C>T (p.His751Tyr) c.2401C>T (p.His801Tyr) c.2374C>T (p.His792Tyr) | |
7 | g.150948897G>C | CA369854830 | KCNH2 | n.3384C>G c.2551C>G (p.His851Asp) c.1531C>G (p.His511Asp) c.2251C>G (p.His751Asp) c.2401C>G (p.His801Asp) c.2374C>G (p.His792Asp) | COSMIC COSMIC |
7 | g.150948897G>T | CA369854832 | KCNH2 | n.3384C>A c.2551C>A (p.His851Asn) c.1531C>A (p.His511Asn) c.2251C>A (p.His751Asn) c.2401C>A (p.His801Asn) c.2374C>A (p.His792Asn) | |
7 | g.150948898G>A | CA458645133 | KCNH2 | n.3383C>T c.2550C>T (p.Asp850=) c.1530C>T (p.Asp510=) c.2250C>T (p.Asp750=) c.2400C>T (p.Asp800=) c.2373C>T (p.Asp791=) | |
7 | g.150948898G>C | CA369854834 | KCNH2 | n.3383C>G c.2550C>G (p.Asp850Glu) c.1530C>G (p.Asp510Glu) c.2250C>G (p.Asp750Glu) c.2400C>G (p.Asp800Glu) c.2373C>G (p.Asp791Glu) | |
7 | g.150948898G>T | CA369854835 | KCNH2 | n.3383C>A c.2550C>A (p.Asp850Glu) c.1530C>A (p.Asp510Glu) c.2250C>A (p.Asp750Glu) c.2400C>A (p.Asp800Glu) c.2373C>A (p.Asp791Glu) | |
7 | g.150948899T>A | CA369854838 | KCNH2 | n.3382A>T c.2549A>T (p.Asp850Val) c.1529A>T (p.Asp510Val) c.2249A>T (p.Asp750Val) c.2399A>T (p.Asp800Val) c.2372A>T (p.Asp791Val) | dbSNP |
7 | g.150948899T>C | CA369854840 | KCNH2 | n.3382A>G c.2549A>G (p.Asp850Gly) c.1529A>G (p.Asp510Gly) c.2249A>G (p.Asp750Gly) c.2399A>G (p.Asp800Gly) c.2372A>G (p.Asp791Gly) | |
7 | g.150948899T>G | CA369854841 | KCNH2 | n.3382A>C c.2549A>C (p.Asp850Ala) c.1529A>C (p.Asp510Ala) c.2249A>C (p.Asp750Ala) c.2399A>C (p.Asp800Ala) c.2372A>C (p.Asp791Ala) | |
7 | g.150948900C>A | CA369854844 | KCNH2 | n.3381G>T c.2548G>T (p.Asp850Tyr) c.1528G>T (p.Asp510Tyr) c.2248G>T (p.Asp750Tyr) c.2398G>T (p.Asp800Tyr) c.2371G>T (p.Asp791Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.150948900C= | CA1752431881 | KCNH2 | n.3381G= c.2548G= (p.Asp850=) c.1528G= (p.Asp510=) c.2248G= (p.Asp750=) c.2398G= (p.Asp800=) c.2371G= (p.Asp791=) | |
7 | g.150948900C>G | CA369854845 | KCNH2 | n.3381G>C c.2548G>C (p.Asp850His) c.1528G>C (p.Asp510His) c.2248G>C (p.Asp750His) c.2398G>C (p.Asp800His) c.2371G>C (p.Asp791His) | ClinVar |
7 | g.150948900C>T | CA169074750 | KCNH2 | n.3381G>A c.2548G>A (p.Asp850Asn) c.1528G>A (p.Asp510Asn) c.2248G>A (p.Asp750Asn) c.2398G>A (p.Asp800Asn) c.2371G>A (p.Asp791Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948901G>A | CA033018 | KCNH2 | n.3380C>T c.2547C>T (p.Ser849=) c.1527C>T (p.Ser509=) c.2247C>T (p.Ser749=) c.2397C>T (p.Ser799=) c.2370C>T (p.Ser790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948901G>C | CA458645135 | KCNH2 | n.3380C>G c.2547C>G (p.Ser849=) c.1527C>G (p.Ser509=) c.2247C>G (p.Ser749=) c.2397C>G (p.Ser799=) c.2370C>G (p.Ser790=) | ClinVar |
7 | g.150948901G= | CA1752431885 | KCNH2 | n.3380C= c.2547C= (p.Ser849=) c.1527C= (p.Ser509=) c.2247C= (p.Ser749=) c.2397C= (p.Ser799=) c.2370C= (p.Ser790=) | |
7 | g.150948901G>T | CA458645134 | KCNH2 | n.3380C>A c.2547C>A (p.Ser849=) c.1527C>A (p.Ser509=) c.2247C>A (p.Ser749=) c.2397C>A (p.Ser799=) c.2370C>A (p.Ser790=) | |
7 | g.150948902G>A | CA369854853 | KCNH2 | n.3379C>T c.2546C>T (p.Ser849Phe) c.1526C>T (p.Ser509Phe) c.2246C>T (p.Ser749Phe) c.2396C>T (p.Ser799Phe) c.2369C>T (p.Ser790Phe) | dbSNP |
7 | g.150948902G>C | CA369854849 | KCNH2 | n.3379C>G c.2546C>G (p.Ser849Cys) c.1526C>G (p.Ser509Cys) c.2246C>G (p.Ser749Cys) c.2396C>G (p.Ser799Cys) c.2369C>G (p.Ser790Cys) | |
7 | g.150948902G= | CA1752431889 | KCNH2 | n.3379C= c.2546C= (p.Ser849=) c.1526C= (p.Ser509=) c.2246C= (p.Ser749=) c.2396C= (p.Ser799=) c.2369C= (p.Ser790=) | |
7 | g.150948902G>T | CA369854851 | KCNH2 | n.3379C>A c.2546C>A (p.Ser849Tyr) c.1526C>A (p.Ser509Tyr) c.2246C>A (p.Ser749Tyr) c.2396C>A (p.Ser799Tyr) c.2369C>A (p.Ser790Tyr) | |
7 | g.150948903A= | CA1752431893 | KCNH2 | n.3378T= c.2545T= (p.Ser849=) c.1525T= (p.Ser509=) c.2245T= (p.Ser749=) c.2395T= (p.Ser799=) c.2368T= (p.Ser790=) | |
7 | g.150948903A>C | CA369854855 | KCNH2 | n.3378T>G c.2545T>G (p.Ser849Ala) c.1525T>G (p.Ser509Ala) c.2245T>G (p.Ser749Ala) c.2395T>G (p.Ser799Ala) c.2368T>G (p.Ser790Ala) | |
7 | g.150948903A>G | CA369854857 | KCNH2 | n.3378T>C c.2545T>C (p.Ser849Pro) c.1525T>C (p.Ser509Pro) c.2245T>C (p.Ser749Pro) c.2395T>C (p.Ser799Pro) c.2368T>C (p.Ser790Pro) | |
7 | g.150948903A>T | CA369854859 | KCNH2 | n.3378T>A c.2545T>A (p.Ser849Thr) c.1525T>A (p.Ser509Thr) c.2245T>A (p.Ser749Thr) c.2395T>A (p.Ser799Thr) c.2368T>A (p.Ser790Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948904G>A | CA458645136 | KCNH2 | n.3377C>T c.2544C>T (p.Phe848=) c.1524C>T (p.Phe508=) c.2244C>T (p.Phe748=) c.2394C>T (p.Phe798=) c.2367C>T (p.Phe789=) | |
7 | g.150948904G>C | CA369854861 | KCNH2 | n.3377C>G c.2544C>G (p.Phe848Leu) c.1524C>G (p.Phe508Leu) c.2244C>G (p.Phe748Leu) c.2394C>G (p.Phe798Leu) c.2367C>G (p.Phe789Leu) | |
7 | g.150948904G>T | CA369854863 | KCNH2 | n.3377C>A c.2544C>A (p.Phe848Leu) c.1524C>A (p.Phe508Leu) c.2244C>A (p.Phe748Leu) c.2394C>A (p.Phe798Leu) c.2367C>A (p.Phe789Leu) | |
7 | g.150948905A>C | CA369854865 | KCNH2 | n.3376T>G c.2543T>G (p.Phe848Cys) c.1523T>G (p.Phe508Cys) c.2243T>G (p.Phe748Cys) c.2393T>G (p.Phe798Cys) c.2366T>G (p.Phe789Cys) | |
7 | g.150948905A>G | CA369854867 | KCNH2 | n.3376T>C c.2543T>C (p.Phe848Ser) c.1523T>C (p.Phe508Ser) c.2243T>C (p.Phe748Ser) c.2393T>C (p.Phe798Ser) c.2366T>C (p.Phe789Ser) | |
7 | g.150948905A>T | CA369854869 | KCNH2 | n.3376T>A c.2543T>A (p.Phe848Tyr) c.1523T>A (p.Phe508Tyr) c.2243T>A (p.Phe748Tyr) c.2393T>A (p.Phe798Tyr) c.2366T>A (p.Phe789Tyr) | |
7 | g.150948906A>C | CA369854871 | KCNH2 | n.3375T>G c.2542T>G (p.Phe848Val) c.1522T>G (p.Phe508Val) c.2242T>G (p.Phe748Val) c.2392T>G (p.Phe798Val) c.2365T>G (p.Phe789Val) | |
7 | g.150948906A>G | CA369854873 | KCNH2 | n.3375T>C c.2542T>C (p.Phe848Leu) c.1522T>C (p.Phe508Leu) c.2242T>C (p.Phe748Leu) c.2392T>C (p.Phe798Leu) c.2365T>C (p.Phe789Leu) | |
7 | g.150948906A>T | CA369854875 | KCNH2 | n.3375T>A c.2542T>A (p.Phe848Ile) c.1522T>A (p.Phe508Ile) c.2242T>A (p.Phe748Ile) c.2392T>A (p.Phe798Ile) c.2365T>A (p.Phe789Ile) | |
7 | g.150948907C>A | CA169074754 | KCNH2 | n.3374G>T c.2541G>T (p.Glu847Asp) c.1521G>T (p.Glu507Asp) c.2241G>T (p.Glu747Asp) c.2391G>T (p.Glu797Asp) c.2364G>T (p.Glu788Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.150948907C= | CA1752431896 | KCNH2 | n.3374G= c.2541G= (p.Glu847=) c.1521G= (p.Glu507=) c.2241G= (p.Glu747=) c.2391G= (p.Glu797=) c.2364G= (p.Glu788=) | |
7 | g.150948907C>G | CA369854877 | KCNH2 | n.3374G>C c.2541G>C (p.Glu847Asp) c.1521G>C (p.Glu507Asp) c.2241G>C (p.Glu747Asp) c.2391G>C (p.Glu797Asp) c.2364G>C (p.Glu788Asp) | |
7 | g.150948907C>T | CA458645137 | KCNH2 | n.3374G>A c.2541G>A (p.Glu847=) c.1521G>A (p.Glu507=) c.2241G>A (p.Glu747=) c.2391G>A (p.Glu797=) c.2364G>A (p.Glu788=) | gnomAD v4 |
7 | g.150948907_150948914del | CA2739278692 | KCNH2 | n.3367_3374del c.2534_2541del (p.Tyr845PhefsTer?) c.1514_1521del (p.Tyr505PhefsTer?) c.2234_2241del (p.Tyr745PhefsTer?) c.2384_2391del (p.Tyr795PhefsTer?) c.2357_2364del (p.Tyr786PhefsTer?) | ClinVar |
7 | g.150948908T>A | CA369854880 | KCNH2 | n.3373A>T c.2540A>T (p.Glu847Val) c.1520A>T (p.Glu507Val) c.2240A>T (p.Glu747Val) c.2390A>T (p.Glu797Val) c.2363A>T (p.Glu788Val) | |
7 | g.150948908T>C | CA369854882 | KCNH2 | n.3373A>G c.2540A>G (p.Glu847Gly) c.1520A>G (p.Glu507Gly) c.2240A>G (p.Glu747Gly) c.2390A>G (p.Glu797Gly) c.2363A>G (p.Glu788Gly) | |
7 | g.150948908T>G | CA369854884 | KCNH2 | n.3373A>C c.2540A>C (p.Glu847Ala) c.1520A>C (p.Glu507Ala) c.2240A>C (p.Glu747Ala) c.2390A>C (p.Glu797Ala) c.2363A>C (p.Glu788Ala) | gnomAD v4 |
7 | g.150948909C>A | CA369854886 | KCNH2 | n.3372G>T c.2539G>T (p.Glu847Ter) c.1519G>T (p.Glu507Ter) c.2239G>T (p.Glu747Ter) c.2389G>T (p.Glu797Ter) c.2362G>T (p.Glu788Ter) | |
7 | g.150948909C>G | CA369854887 | KCNH2 | n.3372G>C c.2539G>C (p.Glu847Gln) c.1519G>C (p.Glu507Gln) c.2239G>C (p.Glu747Gln) c.2389G>C (p.Glu797Gln) c.2362G>C (p.Glu788Gln) | gnomAD v4 |
7 | g.150948909C>T | CA369854889 | KCNH2 | n.3372G>A c.2539G>A (p.Glu847Lys) c.1519G>A (p.Glu507Lys) c.2239G>A (p.Glu747Lys) c.2389G>A (p.Glu797Lys) c.2362G>A (p.Glu788Lys) | |
7 | g.150948910A= | CA1752431897 | KCNH2 | n.3371T= c.2538T= (p.Pro846=) c.1518T= (p.Pro506=) c.2238T= (p.Pro746=) c.2388T= (p.Pro796=) c.2361T= (p.Pro787=) | |
7 | g.150948910A>C | CA458645138 | KCNH2 | n.3371T>G c.2538T>G (p.Pro846=) c.1518T>G (p.Pro506=) c.2238T>G (p.Pro746=) c.2388T>G (p.Pro796=) c.2361T>G (p.Pro787=) | |
7 | g.150948910A>G | CA033010 | KCNH2 | n.3371T>C c.2538T>C (p.Pro846=) c.1518T>C (p.Pro506=) c.2238T>C (p.Pro746=) c.2388T>C (p.Pro796=) c.2361T>C (p.Pro787=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948910A>T | CA458645139 | KCNH2 | n.3371T>A c.2538T>A (p.Pro846=) c.1518T>A (p.Pro506=) c.2238T>A (p.Pro746=) c.2388T>A (p.Pro796=) c.2361T>A (p.Pro787=) | |
7 | g.150948911G>A | CA16612301 | KCNH2 | n.3370C>T c.2537C>T (p.Pro846Leu) c.1517C>T (p.Pro506Leu) c.2237C>T (p.Pro746Leu) c.2387C>T (p.Pro796Leu) c.2360C>T (p.Pro787Leu) | ClinVar dbSNP |
7 | g.150948911G>C | CA369854893 | KCNH2 | n.3370C>G c.2537C>G (p.Pro846Arg) c.1517C>G (p.Pro506Arg) c.2237C>G (p.Pro746Arg) c.2387C>G (p.Pro796Arg) c.2360C>G (p.Pro787Arg) | |
7 | g.150948911G= | CA1752431898 | KCNH2 | n.3370C= c.2537C= (p.Pro846=) c.1517C= (p.Pro506=) c.2237C= (p.Pro746=) c.2387C= (p.Pro796=) c.2360C= (p.Pro787=) | |
7 | g.150948911G>T | CA369854895 | KCNH2 | n.3370C>A c.2537C>A (p.Pro846His) c.1517C>A (p.Pro506His) c.2237C>A (p.Pro746His) c.2387C>A (p.Pro796His) c.2360C>A (p.Pro787His) | |
7 | g.150948912_150948913del | CA2573141855 | KCNH2 | n.3369_3370del c.2536_2537del (p.Pro846Ter) c.1516_1517del (p.Pro506Ter) c.2236_2237del (p.Pro746Ter) c.2386_2387del (p.Pro796Ter) c.2359_2360del (p.Pro787Ter) | ClinVar dbSNP |
7 | g.150948912G>A | CA006916 | KCNH2 | n.3369C>T c.2536C>T (p.Pro846Ser) c.1516C>T (p.Pro506Ser) c.2236C>T (p.Pro746Ser) c.2386C>T (p.Pro796Ser) c.2359C>T (p.Pro787Ser) | ClinVar dbSNP |
7 | g.150948912G>C | CA006908 | KCNH2 | n.3369C>G c.2536C>G (p.Pro846Ala) c.1516C>G (p.Pro506Ala) c.2236C>G (p.Pro746Ala) c.2386C>G (p.Pro796Ala) c.2359C>G (p.Pro787Ala) | ClinVar dbSNP |
7 | g.150948912G= | CA1752431903 | KCNH2 | n.3369C= c.2536C= (p.Pro846=) c.1516C= (p.Pro506=) c.2236C= (p.Pro746=) c.2386C= (p.Pro796=) c.2359C= (p.Pro787=) | |
7 | g.150948912G>T | CA006897 | KCNH2 | n.3369C>A c.2536C>A (p.Pro846Thr) c.1516C>A (p.Pro506Thr) c.2236C>A (p.Pro746Thr) c.2386C>A (p.Pro796Thr) c.2359C>A (p.Pro787Thr) | ClinVar dbSNP |
7 | g.150948913G>A | CA169074755 | KCNH2 | n.3368C>T c.2535C>T (p.Tyr845=) c.1515C>T (p.Tyr505=) c.2235C>T (p.Tyr745=) c.2385C>T (p.Tyr795=) c.2358C>T (p.Tyr786=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948913G>C | CA369854902 | KCNH2 | n.3368C>G c.2535C>G (p.Tyr845Ter) c.1515C>G (p.Tyr505Ter) c.2235C>G (p.Tyr745Ter) c.2385C>G (p.Tyr795Ter) c.2358C>G (p.Tyr786Ter) | |
7 | g.150948913G= | CA1752431910 | KCNH2 | n.3368C= c.2535C= (p.Tyr845=) c.1515C= (p.Tyr505=) c.2235C= (p.Tyr745=) c.2385C= (p.Tyr795=) c.2358C= (p.Tyr786=) | |
7 | g.150948913G>T | CA369854901 | KCNH2 | n.3368C>A c.2535C>A (p.Tyr845Ter) c.1515C>A (p.Tyr505Ter) c.2235C>A (p.Tyr745Ter) c.2385C>A (p.Tyr795Ter) c.2358C>A (p.Tyr786Ter) | |
7 | g.150948913_150948916delinsTTAA | CA2695208825 | KCNH2 | n.3365_3368delinsTTAA c.2532_2535delinsTTAA (p.Met844IlefsTer2) c.1512_1515delinsTTAA (p.Met504IlefsTer2) c.2232_2235delinsTTAA (p.Met744IlefsTer2) c.2382_2385delinsTTAA (p.Met794IlefsTer2) c.2355_2358delinsTTAA (p.Met785IlefsTer2) | |
7 | g.150948914T>A | CA369854905 | KCNH2 | n.3367A>T c.2534A>T (p.Tyr845Phe) c.1514A>T (p.Tyr505Phe) c.2234A>T (p.Tyr745Phe) c.2384A>T (p.Tyr795Phe) c.2357A>T (p.Tyr786Phe) | |
7 | g.150948914T>C | CA369854907 | KCNH2 | n.3367A>G c.2534A>G (p.Tyr845Cys) c.1514A>G (p.Tyr505Cys) c.2234A>G (p.Tyr745Cys) c.2384A>G (p.Tyr795Cys) c.2357A>G (p.Tyr786Cys) | |
7 | g.150948914T>G | CA369854908 | KCNH2 | n.3367A>C c.2534A>C (p.Tyr845Ser) c.1514A>C (p.Tyr505Ser) c.2234A>C (p.Tyr745Ser) c.2384A>C (p.Tyr795Ser) c.2357A>C (p.Tyr786Ser) | |
7 | g.150948915A>C | CA369854909 | KCNH2 | n.3366T>G c.2533T>G (p.Tyr845Asp) c.1513T>G (p.Tyr505Asp) c.2233T>G (p.Tyr745Asp) c.2383T>G (p.Tyr795Asp) c.2356T>G (p.Tyr786Asp) | gnomAD v4 |
7 | g.150948915A>G | CA369854911 | KCNH2 | n.3366T>C c.2533T>C (p.Tyr845His) c.1513T>C (p.Tyr505His) c.2233T>C (p.Tyr745His) c.2383T>C (p.Tyr795His) c.2356T>C (p.Tyr786His) | ClinVar gnomAD v4 |
7 | g.150948915A>T | CA369854913 | KCNH2 | n.3366T>A c.2533T>A (p.Tyr845Asn) c.1513T>A (p.Tyr505Asn) c.2233T>A (p.Tyr745Asn) c.2383T>A (p.Tyr795Asn) c.2356T>A (p.Tyr786Asn) | gnomAD v4 |
7 | g.150948916C>A | CA369854915 | KCNH2 | n.3365G>T c.2532G>T (p.Met844Ile) c.1512G>T (p.Met504Ile) c.2232G>T (p.Met744Ile) c.2382G>T (p.Met794Ile) c.2355G>T (p.Met785Ile) | |
7 | g.150948916C>G | CA369854917 | KCNH2 | n.3365G>C c.2532G>C (p.Met844Ile) c.1512G>C (p.Met504Ile) c.2232G>C (p.Met744Ile) c.2382G>C (p.Met794Ile) c.2355G>C (p.Met785Ile) | |
7 | g.150948916C>T | CA369854919 | KCNH2 | n.3365G>A c.2532G>A (p.Met844Ile) c.1512G>A (p.Met504Ile) c.2232G>A (p.Met744Ile) c.2382G>A (p.Met794Ile) c.2355G>A (p.Met785Ile) | |
7 | g.150948917A>C | CA369854921 | KCNH2 | n.3364T>G c.2531T>G (p.Met844Arg) c.1511T>G (p.Met504Arg) c.2231T>G (p.Met744Arg) c.2381T>G (p.Met794Arg) c.2354T>G (p.Met785Arg) | ClinVar |
7 | g.150948917A>G | CA369854922 | KCNH2 | n.3364T>C c.2531T>C (p.Met844Thr) c.1511T>C (p.Met504Thr) c.2231T>C (p.Met744Thr) c.2381T>C (p.Met794Thr) c.2354T>C (p.Met785Thr) | gnomAD v4 |
7 | g.150948917A>T | CA369854924 | KCNH2 | n.3364T>A c.2531T>A (p.Met844Lys) c.1511T>A (p.Met504Lys) c.2231T>A (p.Met744Lys) c.2381T>A (p.Met794Lys) c.2354T>A (p.Met785Lys) | |
7 | g.150948918T>A | CA369854929 | KCNH2 | n.3363A>T c.2530A>T (p.Met844Leu) c.1510A>T (p.Met504Leu) c.2230A>T (p.Met744Leu) c.2380A>T (p.Met794Leu) c.2353A>T (p.Met785Leu) | gnomAD v4 |
7 | g.150948918T>C | CA032997 | KCNH2 | n.3363A>G c.2530A>G (p.Met844Val) c.1510A>G (p.Met504Val) c.2230A>G (p.Met744Val) c.2380A>G (p.Met794Val) c.2353A>G (p.Met785Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948918T>G | CA369854926 | KCNH2 | n.3363A>C c.2530A>C (p.Met844Leu) c.1510A>C (p.Met504Leu) c.2230A>C (p.Met744Leu) c.2380A>C (p.Met794Leu) c.2353A>C (p.Met785Leu) | |
7 | g.150948918T= | CA1752431914 | KCNH2 | n.3363A= c.2530A= (p.Met844=) c.1510A= (p.Met504=) c.2230A= (p.Met744=) c.2380A= (p.Met794=) c.2353A= (p.Met785=) | |
7 | g.150948919G>A | CA458645140 | KCNH2 | n.3362C>T c.2529C>T (p.Asp843=) c.1509C>T (p.Asp503=) c.2229C>T (p.Asp743=) c.2379C>T (p.Asp793=) c.2352C>T (p.Asp784=) | gnomAD v4 |
7 | g.150948919G>C | CA369854931 | KCNH2 | n.3362C>G c.2529C>G (p.Asp843Glu) c.1509C>G (p.Asp503Glu) c.2229C>G (p.Asp743Glu) c.2379C>G (p.Asp793Glu) c.2352C>G (p.Asp784Glu) | |
7 | g.150948919G>T | CA369854933 | KCNH2 | n.3362C>A c.2529C>A (p.Asp843Glu) c.1509C>A (p.Asp503Glu) c.2229C>A (p.Asp743Glu) c.2379C>A (p.Asp793Glu) c.2352C>A (p.Asp784Glu) | |
7 | g.150948920T>A | CA032957 | KCNH2 | n.3361A>T c.2528A>T (p.Asp843Val) c.1508A>T (p.Asp503Val) c.2228A>T (p.Asp743Val) c.2378A>T (p.Asp793Val) c.2351A>T (p.Asp784Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948920T>C | CA369854936 | KCNH2 | n.3361A>G c.2528A>G (p.Asp843Gly) c.1508A>G (p.Asp503Gly) c.2228A>G (p.Asp743Gly) c.2378A>G (p.Asp793Gly) c.2351A>G (p.Asp784Gly) | gnomAD v4 |
7 | g.150948920T>G | CA369854938 | KCNH2 | n.3361A>C c.2528A>C (p.Asp843Ala) c.1508A>C (p.Asp503Ala) c.2228A>C (p.Asp743Ala) c.2378A>C (p.Asp793Ala) c.2351A>C (p.Asp784Ala) | |
7 | g.150948920T= | CA1752431918 | KCNH2 | n.3361A= c.2528A= (p.Asp843=) c.1508A= (p.Asp503=) c.2228A= (p.Asp743=) c.2378A= (p.Asp793=) c.2351A= (p.Asp784=) | |
7 | g.150948921C>A | CA369854940 | KCNH2 | n.3360G>T c.2527G>T (p.Asp843Tyr) c.1507G>T (p.Asp503Tyr) c.2227G>T (p.Asp743Tyr) c.2377G>T (p.Asp793Tyr) c.2350G>T (p.Asp784Tyr) | |
7 | g.150948921C>G | CA369854942 | KCNH2 | n.3360G>C c.2527G>C (p.Asp843His) c.1507G>C (p.Asp503His) c.2227G>C (p.Asp743His) c.2377G>C (p.Asp793His) c.2350G>C (p.Asp784His) | |
7 | g.150948921C>T | CA369854944 | KCNH2 | n.3360G>A c.2527G>A (p.Asp843Asn) c.1507G>A (p.Asp503Asn) c.2227G>A (p.Asp743Asn) c.2377G>A (p.Asp793Asn) c.2350G>A (p.Asp784Asn) | |
7 | g.150948922C>A | CA458645142 | KCNH2 | n.3359G>T c.2526G>T (p.Leu842=) c.1506G>T (p.Leu502=) c.2226G>T (p.Leu742=) c.2376G>T (p.Leu792=) c.2349G>T (p.Leu783=) | |
7 | g.150948922C>G | CA458645143 | KCNH2 | n.3359G>C c.2526G>C (p.Leu842=) c.1506G>C (p.Leu502=) c.2226G>C (p.Leu742=) c.2376G>C (p.Leu792=) c.2349G>C (p.Leu783=) | |
7 | g.150948922C>T | CA458645141 | KCNH2 | n.3359G>A c.2526G>A (p.Leu842=) c.1506G>A (p.Leu502=) c.2226G>A (p.Leu742=) c.2376G>A (p.Leu792=) c.2349G>A (p.Leu783=) | |
7 | g.150948923A= | CA1752431923 | KCNH2 | n.3358T= c.2525T= (p.Leu842=) c.1505T= (p.Leu502=) c.2225T= (p.Leu742=) c.2375T= (p.Leu792=) c.2348T= (p.Leu783=) | |
7 | g.150948923A>C | CA369854946 | KCNH2 | n.3358T>G c.2525T>G (p.Leu842Arg) c.1505T>G (p.Leu502Arg) c.2225T>G (p.Leu742Arg) c.2375T>G (p.Leu792Arg) c.2348T>G (p.Leu783Arg) | |
7 | g.150948923A>G | CA369854948 | KCNH2 | n.3358T>C c.2525T>C (p.Leu842Pro) c.1505T>C (p.Leu502Pro) c.2225T>C (p.Leu742Pro) c.2375T>C (p.Leu792Pro) c.2348T>C (p.Leu783Pro) | ClinVar dbSNP |
7 | g.150948923A>T | CA369854950 | KCNH2 | n.3358T>A c.2525T>A (p.Leu842Gln) c.1505T>A (p.Leu502Gln) c.2225T>A (p.Leu742Gln) c.2375T>A (p.Leu792Gln) c.2348T>A (p.Leu783Gln) | |
7 | g.150948924G>A | CA458645144 | KCNH2 | n.3357C>T c.2524C>T (p.Leu842=) c.1504C>T (p.Leu502=) c.2224C>T (p.Leu742=) c.2374C>T (p.Leu792=) c.2347C>T (p.Leu783=) | ClinVar |
7 | g.150948924G>C | CA369854952 | KCNH2 | n.3357C>G c.2524C>G (p.Leu842Val) c.1504C>G (p.Leu502Val) c.2224C>G (p.Leu742Val) c.2374C>G (p.Leu792Val) c.2347C>G (p.Leu783Val) | ClinVar dbSNP gnomAD v4 |
7 | g.150948924G>T | CA369854953 | KCNH2 | n.3357C>A c.2524C>A (p.Leu842Met) c.1504C>A (p.Leu502Met) c.2224C>A (p.Leu742Met) c.2374C>A (p.Leu792Met) c.2347C>A (p.Leu783Met) | |
7 | g.150948925C>A | CA458645145 | KCNH2 | n.3356G>T c.2523G>T (p.Val841=) c.1503G>T (p.Val501=) c.2223G>T (p.Val741=) c.2373G>T (p.Val791=) c.2346G>T (p.Val782=) | |
7 | g.150948925C>G | CA458645146 | KCNH2 | n.3356G>C c.2523G>C (p.Val841=) c.1503G>C (p.Val501=) c.2223G>C (p.Val741=) c.2373G>C (p.Val791=) c.2346G>C (p.Val782=) | gnomAD v4 |
7 | g.150948925C>T | CA458645147 | KCNH2 | n.3356G>A c.2523G>A (p.Val841=) c.1503G>A (p.Val501=) c.2223G>A (p.Val741=) c.2373G>A (p.Val791=) c.2346G>A (p.Val782=) | |
7 | g.150948926A= | CA1752431924 | KCNH2 | n.3355T= c.2522T= (p.Val841=) c.1502T= (p.Val501=) c.2222T= (p.Val741=) c.2372T= (p.Val791=) c.2345T= (p.Val782=) | |
7 | g.150948926A>C | CA369854956 | KCNH2 | n.3355T>G c.2522T>G (p.Val841Gly) c.1502T>G (p.Val501Gly) c.2222T>G (p.Val741Gly) c.2372T>G (p.Val791Gly) c.2345T>G (p.Val782Gly) | dbSNP |
7 | g.150948926A>G | CA369854958 | KCNH2 | n.3355T>C c.2522T>C (p.Val841Ala) c.1502T>C (p.Val501Ala) c.2222T>C (p.Val741Ala) c.2372T>C (p.Val791Ala) c.2345T>C (p.Val782Ala) | |
7 | g.150948926A>T | CA369854954 | KCNH2 | n.3355T>A c.2522T>A (p.Val841Glu) c.1502T>A (p.Val501Glu) c.2222T>A (p.Val741Glu) c.2372T>A (p.Val791Glu) c.2345T>A (p.Val782Glu) | |
7 | g.150948927C>A | CA369854960 | KCNH2 | n.3354G>T c.2521G>T (p.Val841Leu) c.1501G>T (p.Val501Leu) c.2221G>T (p.Val741Leu) c.2371G>T (p.Val791Leu) c.2344G>T (p.Val782Leu) | ClinVar |
7 | g.150948927C>G | CA369854962 | KCNH2 | n.3354G>C c.2521G>C (p.Val841Leu) c.1501G>C (p.Val501Leu) c.2221G>C (p.Val741Leu) c.2371G>C (p.Val791Leu) c.2344G>C (p.Val782Leu) | |
7 | g.150948927C>T | CA369854964 | KCNH2 | n.3354G>A c.2521G>A (p.Val841Met) c.1501G>A (p.Val501Met) c.2221G>A (p.Val741Met) c.2371G>A (p.Val791Met) c.2344G>A (p.Val782Met) | |
7 | g.150948928C>A | CA369854966 | KCNH2 | n.3353G>T c.2520G>T (p.Glu840Asp) c.1500G>T (p.Glu500Asp) c.2220G>T (p.Glu740Asp) c.2370G>T (p.Glu790Asp) c.2343G>T (p.Glu781Asp) | |
7 | g.150948928C>G | CA369854968 | KCNH2 | n.3353G>C c.2520G>C (p.Glu840Asp) c.1500G>C (p.Glu500Asp) c.2220G>C (p.Glu740Asp) c.2370G>C (p.Glu790Asp) c.2343G>C (p.Glu781Asp) | |
7 | g.150948928C>T | CA458645148 | KCNH2 | n.3353G>A c.2520G>A (p.Glu840=) c.1500G>A (p.Glu500=) c.2220G>A (p.Glu740=) c.2370G>A (p.Glu790=) c.2343G>A (p.Glu781=) | |
7 | g.150948929T>A | CA369854970 | KCNH2 | n.3352A>T c.2519A>T (p.Glu840Val) c.1499A>T (p.Glu500Val) c.2219A>T (p.Glu740Val) c.2369A>T (p.Glu790Val) c.2342A>T (p.Glu781Val) | gnomAD v4 |
7 | g.150948929T>C | CA369854971 | KCNH2 | n.3352A>G c.2519A>G (p.Glu840Gly) c.1499A>G (p.Glu500Gly) c.2219A>G (p.Glu740Gly) c.2369A>G (p.Glu790Gly) c.2342A>G (p.Glu781Gly) | |
7 | g.150948929T>G | CA369854973 | KCNH2 | n.3352A>C c.2519A>C (p.Glu840Ala) c.1499A>C (p.Glu500Ala) c.2219A>C (p.Glu740Ala) c.2369A>C (p.Glu790Ala) c.2342A>C (p.Glu781Ala) | |
7 | g.150948930C>A | CA369854976 | KCNH2 | n.3351G>T c.2518G>T (p.Glu840Ter) c.1498G>T (p.Glu500Ter) c.2218G>T (p.Glu740Ter) c.2368G>T (p.Glu790Ter) c.2341G>T (p.Glu781Ter) | |
7 | g.150948930C= | CA1752431926 | KCNH2 | n.3351G= c.2518G= (p.Glu840=) c.1498G= (p.Glu500=) c.2218G= (p.Glu740=) c.2368G= (p.Glu790=) c.2341G= (p.Glu781=) | |
7 | g.150948930C>G | CA032944 | KCNH2 | n.3351G>C c.2518G>C (p.Glu840Gln) c.1498G>C (p.Glu500Gln) c.2218G>C (p.Glu740Gln) c.2368G>C (p.Glu790Gln) c.2341G>C (p.Glu781Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948930C>T | CA369854977 | KCNH2 | n.3351G>A c.2518G>A (p.Glu840Lys) c.1498G>A (p.Glu500Lys) c.2218G>A (p.Glu740Lys) c.2368G>A (p.Glu790Lys) c.2341G>A (p.Glu781Lys) | |
7 | g.150948931C>A | CA458645149 | KCNH2 | n.3350G>T c.2517G>T (p.Leu839=) c.1497G>T (p.Leu499=) c.2217G>T (p.Leu739=) c.2367G>T (p.Leu789=) c.2340G>T (p.Leu780=) | |
7 | g.150948931C>G | CA458645150 | KCNH2 | n.3350G>C c.2517G>C (p.Leu839=) c.1497G>C (p.Leu499=) c.2217G>C (p.Leu739=) c.2367G>C (p.Leu789=) c.2340G>C (p.Leu780=) | |
7 | g.150948931C>T | CA458645151 | KCNH2 | n.3350G>A c.2517G>A (p.Leu839=) c.1497G>A (p.Leu499=) c.2217G>A (p.Leu739=) c.2367G>A (p.Leu789=) c.2340G>A (p.Leu780=) | ClinVar |
7 | g.150948932A>C | CA369854983 | KCNH2 | n.3349T>G c.2516T>G (p.Leu839Arg) c.1496T>G (p.Leu499Arg) c.2216T>G (p.Leu739Arg) c.2366T>G (p.Leu789Arg) c.2339T>G (p.Leu780Arg) | |
7 | g.150948932A>G | CA369854981 | KCNH2 | n.3349T>C c.2516T>C (p.Leu839Pro) c.1496T>C (p.Leu499Pro) c.2216T>C (p.Leu739Pro) c.2366T>C (p.Leu789Pro) c.2339T>C (p.Leu780Pro) | |
7 | g.150948932A>T | CA369854979 | KCNH2 | n.3349T>A c.2516T>A (p.Leu839Gln) c.1496T>A (p.Leu499Gln) c.2216T>A (p.Leu739Gln) c.2366T>A (p.Leu789Gln) c.2339T>A (p.Leu780Gln) | |
7 | g.150948933G>A | CA458645152 | KCNH2 | n.3348C>T c.2515C>T (p.Leu839=) c.1495C>T (p.Leu499=) c.2215C>T (p.Leu739=) c.2365C>T (p.Leu789=) c.2338C>T (p.Leu780=) | |
7 | g.150948933G>C | CA369854985 | KCNH2 | n.3348C>G c.2515C>G (p.Leu839Val) c.1495C>G (p.Leu499Val) c.2215C>G (p.Leu739Val) c.2365C>G (p.Leu789Val) c.2338C>G (p.Leu780Val) | |
7 | g.150948933G= | CA1752431927 | KCNH2 | n.3348C= c.2515C= (p.Leu839=) c.1495C= (p.Leu499=) c.2215C= (p.Leu739=) c.2365C= (p.Leu789=) c.2338C= (p.Leu780=) | |
7 | g.150948933G>T | CA369854987 | KCNH2 | n.3348C>A c.2515C>A (p.Leu839Met) c.1495C>A (p.Leu499Met) c.2215C>A (p.Leu739Met) c.2365C>A (p.Leu789Met) c.2338C>A (p.Leu780Met) | ClinVar dbSNP gnomAD v4 |
7 | g.150948934C>A | CA458645153 | KCNH2 | n.3347G>T c.2514G>T (p.Leu838=) c.1494G>T (p.Leu498=) c.2214G>T (p.Leu738=) c.2364G>T (p.Leu788=) c.2337G>T (p.Leu779=) | ClinVar |
7 | g.150948934C>G | CA458645155 | KCNH2 | n.3347G>C c.2514G>C (p.Leu838=) c.1494G>C (p.Leu498=) c.2214G>C (p.Leu738=) c.2364G>C (p.Leu788=) c.2337G>C (p.Leu779=) | |
7 | g.150948934C>T | CA458645154 | KCNH2 | n.3347G>A c.2514G>A (p.Leu838=) c.1494G>A (p.Leu498=) c.2214G>A (p.Leu738=) c.2364G>A (p.Leu788=) c.2337G>A (p.Leu779=) | |
7 | g.150948935A>C | CA369854989 | KCNH2 | n.3346T>G c.2513T>G (p.Leu838Arg) c.1493T>G (p.Leu498Arg) c.2213T>G (p.Leu738Arg) c.2363T>G (p.Leu788Arg) c.2336T>G (p.Leu779Arg) | |
7 | g.150948935A>G | CA369854991 | KCNH2 | n.3346T>C c.2513T>C (p.Leu838Pro) c.1493T>C (p.Leu498Pro) c.2213T>C (p.Leu738Pro) c.2363T>C (p.Leu788Pro) c.2336T>C (p.Leu779Pro) | |
7 | g.150948935A>T | CA369854993 | KCNH2 | n.3346T>A c.2513T>A (p.Leu838Gln) c.1493T>A (p.Leu498Gln) c.2213T>A (p.Leu738Gln) c.2363T>A (p.Leu788Gln) c.2336T>A (p.Leu779Gln) | |
7 | g.150948936G>A | CA458645156 | KCNH2 | n.3345C>T c.2512C>T (p.Leu838=) c.1492C>T (p.Leu498=) c.2212C>T (p.Leu738=) c.2362C>T (p.Leu788=) c.2335C>T (p.Leu779=) | |
7 | g.150948936G>C | CA369854995 | KCNH2 | n.3345C>G c.2512C>G (p.Leu838Val) c.1492C>G (p.Leu498Val) c.2212C>G (p.Leu738Val) c.2362C>G (p.Leu788Val) c.2335C>G (p.Leu779Val) | |
7 | g.150948936G>T | CA369854997 | KCNH2 | n.3345C>A c.2512C>A (p.Leu838Met) c.1492C>A (p.Leu498Met) c.2212C>A (p.Leu738Met) c.2362C>A (p.Leu788Met) c.2335C>A (p.Leu779Met) | |
7 | g.150948937G>A | CA458645158 | KCNH2 | n.3344C>T c.2511C>T (p.Asp837=) c.1491C>T (p.Asp497=) c.2211C>T (p.Asp737=) c.2361C>T (p.Asp787=) c.2334C>T (p.Asp778=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948937G>C | CA369854999 | KCNH2 | n.3344C>G c.2511C>G (p.Asp837Glu) c.1491C>G (p.Asp497Glu) c.2211C>G (p.Asp737Glu) c.2361C>G (p.Asp787Glu) c.2334C>G (p.Asp778Glu) | |
7 | g.150948937G= | CA1752431933 | KCNH2 | n.3344C= c.2511C= (p.Asp837=) c.1491C= (p.Asp497=) c.2211C= (p.Asp737=) c.2361C= (p.Asp787=) c.2334C= (p.Asp778=) | |
7 | g.150948937G>T | CA369855001 | KCNH2 | n.3344C>A c.2511C>A (p.Asp837Glu) c.1491C>A (p.Asp497Glu) c.2211C>A (p.Asp737Glu) c.2361C>A (p.Asp787Glu) c.2334C>A (p.Asp778Glu) | |
7 | g.150948938T>A | CA369855003 | KCNH2 | n.3343A>T c.2510A>T (p.Asp837Val) c.1490A>T (p.Asp497Val) c.2210A>T (p.Asp737Val) c.2360A>T (p.Asp787Val) c.2333A>T (p.Asp778Val) | |
7 | g.150948938T>C | CA006888 | KCNH2 | n.3343A>G c.2510A>G (p.Asp837Gly) c.1490A>G (p.Asp497Gly) c.2210A>G (p.Asp737Gly) c.2360A>G (p.Asp787Gly) c.2333A>G (p.Asp778Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150948938T>G | CA369855005 | KCNH2 | n.3343A>C c.2510A>C (p.Asp837Ala) c.1490A>C (p.Asp497Ala) c.2210A>C (p.Asp737Ala) c.2360A>C (p.Asp787Ala) c.2333A>C (p.Asp778Ala) | |
7 | g.150948938T= | CA1752431937 | KCNH2 | n.3343A= c.2510A= (p.Asp837=) c.1490A= (p.Asp497=) c.2210A= (p.Asp737=) c.2360A= (p.Asp787=) c.2333A= (p.Asp778=) | |
7 | g.150948939C>A | CA006879 | KCNH2 | n.3342G>T c.2509G>T (p.Asp837Tyr) c.1489G>T (p.Asp497Tyr) c.2209G>T (p.Asp737Tyr) c.2359G>T (p.Asp787Tyr) c.2332G>T (p.Asp778Tyr) | ClinVar dbSNP |
7 | g.150948939C= | CA1752431942 | KCNH2 | n.3342G= c.2509G= (p.Asp837=) c.1489G= (p.Asp497=) c.2209G= (p.Asp737=) c.2359G= (p.Asp787=) c.2332G= (p.Asp778=) | |
7 | g.150948939C>G | CA369855009 | KCNH2 | n.3342G>C c.2509G>C (p.Asp837His) c.1489G>C (p.Asp497His) c.2209G>C (p.Asp737His) c.2359G>C (p.Asp787His) c.2332G>C (p.Asp778His) | dbSNP |
7 | g.150948939C>T | CA006870 | KCNH2 | n.3342G>A c.2509G>A (p.Asp837Asn) c.1489G>A (p.Asp497Asn) c.2209G>A (p.Asp737Asn) c.2359G>A (p.Asp787Asn) c.2332G>A (p.Asp778Asn) | ClinVar dbSNP |
7 | g.150948940G>A | CA169074781 | KCNH2 | n.3341C>T c.2508C>T (p.Asp836=) c.1488C>T (p.Asp496=) c.2208C>T (p.Asp736=) c.2358C>T (p.Asp786=) c.2331C>T (p.Asp777=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948940G>C | CA369855012 | KCNH2 | n.3341C>G c.2508C>G (p.Asp836Glu) c.1488C>G (p.Asp496Glu) c.2208C>G (p.Asp736Glu) c.2358C>G (p.Asp786Glu) c.2331C>G (p.Asp777Glu) | ClinVar |
7 | g.150948940G= | CA1752431947 | KCNH2 | n.3341C= c.2508C= (p.Asp836=) c.1488C= (p.Asp496=) c.2208C= (p.Asp736=) c.2358C= (p.Asp786=) c.2331C= (p.Asp777=) | |
7 | g.150948940G>T | CA369855014 | KCNH2 | n.3341C>A c.2508C>A (p.Asp836Glu) c.1488C>A (p.Asp496Glu) c.2208C>A (p.Asp736Glu) c.2358C>A (p.Asp786Glu) c.2331C>A (p.Asp777Glu) | |
7 | g.150948941T>A | CA369855017 | KCNH2 | n.3340A>T c.2507A>T (p.Asp836Val) c.1487A>T (p.Asp496Val) c.2207A>T (p.Asp736Val) c.2357A>T (p.Asp786Val) c.2330A>T (p.Asp777Val) | |
7 | g.150948941T>C | CA369855021 | KCNH2 | n.3340A>G c.2507A>G (p.Asp836Gly) c.1487A>G (p.Asp496Gly) c.2207A>G (p.Asp736Gly) c.2357A>G (p.Asp786Gly) c.2330A>G (p.Asp777Gly) | |
7 | g.150948941T>G | CA369855019 | KCNH2 | n.3340A>C c.2507A>C (p.Asp836Ala) c.1487A>C (p.Asp496Ala) c.2207A>C (p.Asp736Ala) c.2357A>C (p.Asp786Ala) c.2330A>C (p.Asp777Ala) | |
7 | g.150948942C>A | CA369855023 | KCNH2 | n.3339G>T c.2506G>T (p.Asp836Tyr) c.1486G>T (p.Asp496Tyr) c.2206G>T (p.Asp736Tyr) c.2356G>T (p.Asp786Tyr) c.2329G>T (p.Asp777Tyr) | |
7 | g.150948942C>G | CA369855024 | KCNH2 | n.3339G>C c.2506G>C (p.Asp836His) c.1486G>C (p.Asp496His) c.2206G>C (p.Asp736His) c.2356G>C (p.Asp786His) c.2329G>C (p.Asp777His) | |
7 | g.150948942C>T | CA369855026 | KCNH2 | n.3339G>A c.2506G>A (p.Asp836Asn) c.1486G>A (p.Asp496Asn) c.2206G>A (p.Asp736Asn) c.2356G>A (p.Asp786Asn) c.2329G>A (p.Asp777Asn) | |
7 | g.150948944_150948980del | CA645565632 | KCNH2 | n.3303_3339del c.2470_2506del (p.Ala824ThrfsTer?) c.1450_1486del (p.Ala484ThrfsTer?) c.2170_2206del (p.Ala724ThrfsTer?) c.2320_2356del (p.Ala774ThrfsTer?) c.2293_2329del (p.Ala765ThrfsTer?) | COSMIC COSMIC |
7 | g.150948943C>A | CA458645159 | KCNH2 | n.3338G>T c.2505G>T (p.Arg835=) c.1485G>T (p.Arg495=) c.2205G>T (p.Arg735=) c.2355G>T (p.Arg785=) c.2328G>T (p.Arg776=) | |
7 | g.150948943C>G | CA458645160 | KCNH2 | n.3338G>C c.2505G>C (p.Arg835=) c.1485G>C (p.Arg495=) c.2205G>C (p.Arg735=) c.2355G>C (p.Arg785=) c.2328G>C (p.Arg776=) | |
7 | g.150948943C>T | CA458645161 | KCNH2 | n.3338G>A c.2505G>A (p.Arg835=) c.1485G>A (p.Arg495=) c.2205G>A (p.Arg735=) c.2355G>A (p.Arg785=) c.2328G>A (p.Arg776=) | |
7 | g.150948944C>A | CA369855028 | KCNH2 | n.3337G>T c.2504G>T (p.Arg835Leu) c.1484G>T (p.Arg495Leu) c.2204G>T (p.Arg735Leu) c.2354G>T (p.Arg785Leu) c.2327G>T (p.Arg776Leu) | |
7 | g.150948944C= | CA1752431953 | KCNH2 | n.3337G= c.2504G= (p.Arg835=) c.1484G= (p.Arg495=) c.2204G= (p.Arg735=) c.2354G= (p.Arg785=) c.2327G= (p.Arg776=) | |
7 | g.150948944C>G | CA369855030 | KCNH2 | n.3337G>C c.2504G>C (p.Arg835Pro) c.1484G>C (p.Arg495Pro) c.2204G>C (p.Arg735Pro) c.2354G>C (p.Arg785Pro) c.2327G>C (p.Arg776Pro) | |
7 | g.150948944C>T | CA006860 | KCNH2 | n.3337G>A c.2504G>A (p.Arg835Gln) c.1484G>A (p.Arg495Gln) c.2204G>A (p.Arg735Gln) c.2354G>A (p.Arg785Gln) c.2327G>A (p.Arg776Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948945del | CA2695208826 | KCNH2 | n.3336del c.2503del (p.Arg835GlyfsTer?) c.1483del (p.Arg495GlyfsTer?) c.2203del (p.Arg735GlyfsTer?) c.2353del (p.Arg785GlyfsTer?) c.2326del (p.Arg776GlyfsTer?) | |
7 | g.150948945G>A | CA006850 | KCNH2 | n.3336C>T c.2503C>T (p.Arg835Trp) c.1483C>T (p.Arg495Trp) c.2203C>T (p.Arg735Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948945G>C | CA369855034 | KCNH2 | n.3336C>G c.2503C>G (p.Arg835Gly) c.1483C>G (p.Arg495Gly) c.2203C>G (p.Arg735Gly) c.2353C>G (p.Arg785Gly) c.2326C>G (p.Arg776Gly) | |
7 | g.150948945G= | CA1752431955 | KCNH2 | n.3336C= c.2503C= (p.Arg835=) c.1483C= (p.Arg495=) c.2203C= (p.Arg735=) c.2353C= (p.Arg785=) c.2326C= (p.Arg776=) | |
7 | g.150948945G>T | CA458645162 | KCNH2 | n.3336C>A c.2503C>A (p.Arg835=) c.1483C>A (p.Arg495=) c.2203C>A (p.Arg735=) c.2353C>A (p.Arg785=) c.2326C>A (p.Arg776=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948946A>C | CA369855035 | KCNH2 | n.3335T>G c.2502T>G (p.His834Gln) c.1482T>G (p.His494Gln) c.2202T>G (p.His734Gln) c.2352T>G (p.His784Gln) c.2325T>G (p.His775Gln) | |
7 | g.150948946A>G | CA458645163 | KCNH2 | n.3335T>C c.2502T>C (p.His834=) c.1482T>C (p.His494=) c.2202T>C (p.His734=) c.2352T>C (p.His784=) c.2325T>C (p.His775=) | |
7 | g.150948946A>T | CA369855038 | KCNH2 | n.3335T>A c.2502T>A (p.His834Gln) c.1482T>A (p.His494Gln) c.2202T>A (p.His734Gln) c.2352T>A (p.His784Gln) c.2325T>A (p.His775Gln) | |
7 | g.150948947T>A | CA369855040 | KCNH2 | n.3334A>T c.2501A>T (p.His834Leu) c.1481A>T (p.His494Leu) c.2201A>T (p.His734Leu) c.2351A>T (p.His784Leu) c.2324A>T (p.His775Leu) | |
7 | g.150948947T>C | CA032931 | KCNH2 | n.3334A>G c.2501A>G (p.His834Arg) c.1481A>G (p.His494Arg) c.2201A>G (p.His734Arg) c.2351A>G (p.His784Arg) c.2324A>G (p.His775Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948947T>G | CA369855042 | KCNH2 | n.3334A>C c.2501A>C (p.His834Pro) c.1481A>C (p.His494Pro) c.2201A>C (p.His734Pro) c.2351A>C (p.His784Pro) c.2324A>C (p.His775Pro) | |
7 | g.150948947T= | CA1752431958 | KCNH2 | n.3334A= c.2501A= (p.His834=) c.1481A= (p.His494=) c.2201A= (p.His734=) c.2351A= (p.His784=) c.2324A= (p.His775=) | |
7 | g.150948948G>A | CA369855044 | KCNH2 | n.3333C>T c.2500C>T (p.His834Tyr) c.1480C>T (p.His494Tyr) c.2200C>T (p.His734Tyr) c.2350C>T (p.His784Tyr) c.2323C>T (p.His775Tyr) | ClinVar dbSNP |
7 | g.150948948G>C | CA369855048 | KCNH2 | n.3333C>G c.2500C>G (p.His834Asp) c.1480C>G (p.His494Asp) c.2200C>G (p.His734Asp) c.2350C>G (p.His784Asp) c.2323C>G (p.His775Asp) | |
7 | g.150948948G= | CA1752431960 | KCNH2 | n.3333C= c.2500C= (p.His834=) c.1480C= (p.His494=) c.2200C= (p.His734=) c.2350C= (p.His784=) c.2323C= (p.His775=) | |
7 | g.150948948G>T | CA369855046 | KCNH2 | n.3333C>A c.2500C>A (p.His834Asn) c.1480C>A (p.His494Asn) c.2200C>A (p.His734Asn) c.2350C>A (p.His784Asn) c.2323C>A (p.His775Asn) | |
7 | g.150948949G>A | CA458645165 | KCNH2 | n.3332C>T c.2499C>T (p.Ile833=) c.1479C>T (p.Ile493=) c.2199C>T (p.Ile733=) c.2349C>T (p.Ile783=) c.2322C>T (p.Ile774=) | |
7 | g.150948949G>C | CA369855050 | KCNH2 | n.3332C>G c.2499C>G (p.Ile833Met) c.1479C>G (p.Ile493Met) c.2199C>G (p.Ile733Met) c.2349C>G (p.Ile783Met) c.2322C>G (p.Ile774Met) | |
7 | g.150948949G>T | CA458645166 | KCNH2 | n.3332C>A c.2499C>A (p.Ile833=) c.1479C>A (p.Ile493=) c.2199C>A (p.Ile733=) c.2349C>A (p.Ile783=) c.2322C>A (p.Ile774=) | |
7 | g.150948950A>C | CA369855051 | KCNH2 | n.3331T>G c.2498T>G (p.Ile833Ser) c.1478T>G (p.Ile493Ser) c.2198T>G (p.Ile733Ser) c.2348T>G (p.Ile783Ser) c.2321T>G (p.Ile774Ser) | |
7 | g.150948950A>G | CA369855053 | KCNH2 | n.3331T>C c.2498T>C (p.Ile833Thr) c.1478T>C (p.Ile493Thr) c.2198T>C (p.Ile733Thr) c.2348T>C (p.Ile783Thr) c.2321T>C (p.Ile774Thr) | |
7 | g.150948950A>T | CA369855054 | KCNH2 | n.3331T>A c.2498T>A (p.Ile833Asn) c.1478T>A (p.Ile493Asn) c.2198T>A (p.Ile733Asn) c.2348T>A (p.Ile783Asn) c.2321T>A (p.Ile774Asn) | |
7 | g.150948951T>A | CA369855055 | KCNH2 | n.3330A>T c.2497A>T (p.Ile833Phe) c.1477A>T (p.Ile493Phe) c.2197A>T (p.Ile733Phe) c.2347A>T (p.Ile783Phe) c.2320A>T (p.Ile774Phe) | |
7 | g.150948951T>C | CA369855057 | KCNH2 | n.3330A>G c.2497A>G (p.Ile833Val) c.1477A>G (p.Ile493Val) c.2197A>G (p.Ile733Val) c.2347A>G (p.Ile783Val) c.2320A>G (p.Ile774Val) | |
7 | g.150948951T>G | CA369855058 | KCNH2 | n.3330A>C c.2497A>C (p.Ile833Leu) c.1477A>C (p.Ile493Leu) c.2197A>C (p.Ile733Leu) c.2347A>C (p.Ile783Leu) c.2320A>C (p.Ile774Leu) | |
7 | g.150948952C>A | CA369855059 | KCNH2 | n.3329G>T c.2496G>T (p.Lys832Asn) c.1476G>T (p.Lys492Asn) c.2196G>T (p.Lys732Asn) c.2346G>T (p.Lys782Asn) c.2319G>T (p.Lys773Asn) | |
7 | g.150948952C>G | CA369855060 | KCNH2 | n.3329G>C c.2496G>C (p.Lys832Asn) c.1476G>C (p.Lys492Asn) c.2196G>C (p.Lys732Asn) c.2346G>C (p.Lys782Asn) c.2319G>C (p.Lys773Asn) | |
7 | g.150948952C>T | CA458645167 | KCNH2 | n.3329G>A c.2496G>A (p.Lys832=) c.1476G>A (p.Lys492=) c.2196G>A (p.Lys732=) c.2346G>A (p.Lys782=) c.2319G>A (p.Lys773=) | |
7 | g.150948953T>A | CA369855066 | KCNH2 | n.3328A>T c.2495A>T (p.Lys832Met) c.1475A>T (p.Lys492Met) c.2195A>T (p.Lys732Met) c.2345A>T (p.Lys782Met) c.2318A>T (p.Lys773Met) | |
7 | g.150948953T>C | CA369855064 | KCNH2 | n.3328A>G c.2495A>G (p.Lys832Arg) c.1475A>G (p.Lys492Arg) c.2195A>G (p.Lys732Arg) c.2345A>G (p.Lys782Arg) c.2318A>G (p.Lys773Arg) | |
7 | g.150948953T>G | CA369855062 | KCNH2 | n.3328A>C c.2495A>C (p.Lys832Thr) c.1475A>C (p.Lys492Thr) c.2195A>C (p.Lys732Thr) c.2345A>C (p.Lys782Thr) c.2318A>C (p.Lys773Thr) | |
7 | g.150948954T>A | CA006840 | KCNH2 | n.3327A>T c.2494A>T (p.Lys832Ter) c.1474A>T (p.Lys492Ter) c.2194A>T (p.Lys732Ter) c.2344A>T (p.Lys782Ter) c.2317A>T (p.Lys773Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.150948954T>C | CA369855068 | KCNH2 | n.3327A>G c.2494A>G (p.Lys832Glu) c.1474A>G (p.Lys492Glu) c.2194A>G (p.Lys732Glu) c.2344A>G (p.Lys782Glu) c.2317A>G (p.Lys773Glu) | |
7 | g.150948954T>G | CA369855070 | KCNH2 | n.3327A>C c.2494A>C (p.Lys832Gln) c.1474A>C (p.Lys492Gln) c.2194A>C (p.Lys732Gln) c.2344A>C (p.Lys782Gln) c.2317A>C (p.Lys773Gln) | |
7 | g.150948954T= | CA1752431961 | KCNH2 | n.3327A= c.2494A= (p.Lys832=) c.1474A= (p.Lys492=) c.2194A= (p.Lys732=) c.2344A= (p.Lys782=) c.2317A= (p.Lys773=) | |
7 | g.150948955G>A | CA458645168 | KCNH2 | n.3326C>T c.2493C>T (p.His831=) c.1473C>T (p.His491=) c.2193C>T (p.His731=) c.2343C>T (p.His781=) c.2316C>T (p.His772=) | gnomAD v4 |
7 | g.150948955G>C | CA369855071 | KCNH2 | n.3326C>G c.2493C>G (p.His831Gln) c.1473C>G (p.His491Gln) c.2193C>G (p.His731Gln) c.2343C>G (p.His781Gln) c.2316C>G (p.His772Gln) | |
7 | g.150948955G>T | CA369855073 | KCNH2 | n.3326C>A c.2493C>A (p.His831Gln) c.1473C>A (p.His491Gln) c.2193C>A (p.His731Gln) c.2343C>A (p.His781Gln) c.2316C>A (p.His772Gln) | |
7 | g.150948956T>A | CA369855078 | KCNH2 | n.3325A>T c.2492A>T (p.His831Leu) c.1472A>T (p.His491Leu) c.2192A>T (p.His731Leu) c.2342A>T (p.His781Leu) c.2315A>T (p.His772Leu) | |
7 | g.150948956T>C | CA369855077 | KCNH2 | n.3325A>G c.2492A>G (p.His831Arg) c.1472A>G (p.His491Arg) c.2192A>G (p.His731Arg) c.2342A>G (p.His781Arg) c.2315A>G (p.His772Arg) | gnomAD v4 |
7 | g.150948956T>G | CA369855075 | KCNH2 | n.3325A>C c.2492A>C (p.His831Pro) c.1472A>C (p.His491Pro) c.2192A>C (p.His731Pro) c.2342A>C (p.His781Pro) c.2315A>C (p.His772Pro) | |
7 | g.150948956_150948966delinsTGTAGGTCACA | CA1752431965 | KCNH2 | n.3315_3325delinsTGTGACCTACA c.2482_2492delinsTGTGACCTACA (p.Cys828=) c.1462_1472delinsTGTGACCTACA (p.Cys488=) c.2182_2192delinsTGTGACCTACA (p.Cys728=) c.2332_2342delinsTGTGACCTACA (p.Cys778=) c.2305_2315delinsTGTGACCTACA (p.Cys769=) | |
7 | g.150948957G>A | CA369855081 | KCNH2 | n.3324C>T c.2491C>T (p.His831Tyr) c.1471C>T (p.His491Tyr) c.2191C>T (p.His731Tyr) c.2341C>T (p.His781Tyr) c.2314C>T (p.His772Tyr) | |
7 | g.150948957G>C | CA369855083 | KCNH2 | n.3324C>G c.2491C>G (p.His831Asp) c.1471C>G (p.His491Asp) c.2191C>G (p.His731Asp) c.2341C>G (p.His781Asp) c.2314C>G (p.His772Asp) | |
7 | g.150948957G>T | CA369855084 | KCNH2 | n.3324C>A c.2491C>A (p.His831Asn) c.1471C>A (p.His491Asn) c.2191C>A (p.His731Asn) c.2341C>A (p.His781Asn) c.2314C>A (p.His772Asn) | |
7 | g.150948963_150948972del | CA658797039 | KCNH2 | n.3315_3324del c.2482_2491del (p.Cys828ThrfsTer?) c.1462_1471del (p.Cys488ThrfsTer?) c.2182_2191del (p.Cys728ThrfsTer?) c.2332_2341del (p.Cys778ThrfsTer?) c.2305_2314del (p.Cys769ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150948958T>A | CA458645169 | KCNH2 | n.3323A>T c.2490A>T (p.Leu830=) c.1470A>T (p.Leu490=) c.2190A>T (p.Leu730=) c.2340A>T (p.Leu780=) c.2313A>T (p.Leu771=) | |
7 | g.150948958T>C | CA458645170 | KCNH2 | n.3323A>G c.2490A>G (p.Leu830=) c.1470A>G (p.Leu490=) c.2190A>G (p.Leu730=) c.2340A>G (p.Leu780=) c.2313A>G (p.Leu771=) | |
7 | g.150948958T>G | CA458645171 | KCNH2 | n.3323A>C c.2490A>C (p.Leu830=) c.1470A>C (p.Leu490=) c.2190A>C (p.Leu730=) c.2340A>C (p.Leu780=) c.2313A>C (p.Leu771=) | |
7 | g.150948959A>C | CA369855087 | KCNH2 | n.3322T>G c.2489T>G (p.Leu830Arg) c.1469T>G (p.Leu490Arg) c.2189T>G (p.Leu730Arg) c.2339T>G (p.Leu780Arg) c.2312T>G (p.Leu771Arg) | |
7 | g.150948959A>G | CA369855088 | KCNH2 | n.3322T>C c.2489T>C (p.Leu830Pro) c.1469T>C (p.Leu490Pro) c.2189T>C (p.Leu730Pro) c.2339T>C (p.Leu780Pro) c.2312T>C (p.Leu771Pro) | |
7 | g.150948959A>T | CA369855090 | KCNH2 | n.3322T>A c.2489T>A (p.Leu830Gln) c.1469T>A (p.Leu490Gln) c.2189T>A (p.Leu730Gln) c.2339T>A (p.Leu780Gln) c.2312T>A (p.Leu771Gln) | |
7 | g.150948960G>A | CA032910 | KCNH2 | n.3321C>T c.2488C>T (p.Leu830=) c.1468C>T (p.Leu490=) c.2188C>T (p.Leu730=) c.2338C>T (p.Leu780=) c.2311C>T (p.Leu771=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948960G>C | CA369855093 | KCNH2 | n.3321C>G c.2488C>G (p.Leu830Val) c.1468C>G (p.Leu490Val) c.2188C>G (p.Leu730Val) c.2338C>G (p.Leu780Val) c.2311C>G (p.Leu771Val) | ClinVar gnomAD v4 |
7 | g.150948960G= | CA1752431969 | KCNH2 | n.3321C= c.2488C= (p.Leu830=) c.1468C= (p.Leu490=) c.2188C= (p.Leu730=) c.2338C= (p.Leu780=) c.2311C= (p.Leu771=) | |
7 | g.150948960G>T | CA369855092 | KCNH2 | n.3321C>A c.2488C>A (p.Leu830Ile) c.1468C>A (p.Leu490Ile) c.2188C>A (p.Leu730Ile) c.2338C>A (p.Leu780Ile) c.2311C>A (p.Leu771Ile) | |
7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
7 | g.150948961G>A | CA458645172 | KCNH2 | n.3320C>T c.2487C>T (p.Asp829=) c.1467C>T (p.Asp489=) c.2187C>T (p.Asp729=) c.2337C>T (p.Asp779=) c.2310C>T (p.Asp770=) | |
7 | g.150948961G>C | CA032903 | KCNH2 | n.3320C>G c.2487C>G (p.Asp829Glu) c.1467C>G (p.Asp489Glu) c.2187C>G (p.Asp729Glu) c.2337C>G (p.Asp779Glu) c.2310C>G (p.Asp770Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948961G= | CA1752431970 | KCNH2 | n.3320C= c.2487C= (p.Asp829=) c.1467C= (p.Asp489=) c.2187C= (p.Asp729=) c.2337C= (p.Asp779=) c.2310C= (p.Asp770=) | |
7 | g.150948961G>T | CA369855096 | KCNH2 | n.3320C>A c.2487C>A (p.Asp829Glu) c.1467C>A (p.Asp489Glu) c.2187C>A (p.Asp729Glu) c.2337C>A (p.Asp779Glu) c.2310C>A (p.Asp770Glu) | |
7 | g.150948962T>A | CA369855098 | KCNH2 | n.3319A>T c.2486A>T (p.Asp829Val) c.1466A>T (p.Asp489Val) c.2186A>T (p.Asp729Val) c.2336A>T (p.Asp779Val) c.2309A>T (p.Asp770Val) | |
7 | g.150948962T>C | CA369855100 | KCNH2 | n.3319A>G c.2486A>G (p.Asp829Gly) c.1466A>G (p.Asp489Gly) c.2186A>G (p.Asp729Gly) c.2336A>G (p.Asp779Gly) c.2309A>G (p.Asp770Gly) | COSMIC COSMIC |
7 | g.150948962T>G | CA369855102 | KCNH2 | n.3319A>C c.2486A>C (p.Asp829Ala) c.1466A>C (p.Asp489Ala) c.2186A>C (p.Asp729Ala) c.2336A>C (p.Asp779Ala) c.2309A>C (p.Asp770Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948962T= | CA1752431973 | KCNH2 | n.3319A= c.2486A= (p.Asp829=) c.1466A= (p.Asp489=) c.2186A= (p.Asp729=) c.2336A= (p.Asp779=) c.2309A= (p.Asp770=) | |
7 | g.150948963C>A | CA369855104 | KCNH2 | n.3318G>T c.2485G>T (p.Asp829Tyr) c.1465G>T (p.Asp489Tyr) c.2185G>T (p.Asp729Tyr) c.2335G>T (p.Asp779Tyr) c.2308G>T (p.Asp770Tyr) | |
7 | g.150948963C>G | CA369855106 | KCNH2 | n.3318G>C c.2485G>C (p.Asp829His) c.1465G>C (p.Asp489His) c.2185G>C (p.Asp729His) c.2335G>C (p.Asp779His) c.2308G>C (p.Asp770His) | |
7 | g.150948963C>T | CA369855108 | KCNH2 | n.3318G>A c.2485G>A (p.Asp829Asn) c.1465G>A (p.Asp489Asn) c.2185G>A (p.Asp729Asn) c.2335G>A (p.Asp779Asn) c.2308G>A (p.Asp770Asn) | |
7 | g.150948964A>C | CA369855110 | KCNH2 | n.3317T>G c.2484T>G (p.Cys828Trp) c.1464T>G (p.Cys488Trp) c.2184T>G (p.Cys728Trp) c.2334T>G (p.Cys778Trp) c.2307T>G (p.Cys769Trp) | |
7 | g.150948964A>G | CA458645173 | KCNH2 | n.3317T>C c.2484T>C (p.Cys828=) c.1464T>C (p.Cys488=) c.2184T>C (p.Cys728=) c.2334T>C (p.Cys778=) c.2307T>C (p.Cys769=) | |
7 | g.150948964A>T | CA369855112 | KCNH2 | n.3317T>A c.2484T>A (p.Cys828Ter) c.1464T>A (p.Cys488Ter) c.2184T>A (p.Cys728Ter) c.2334T>A (p.Cys778Ter) c.2307T>A (p.Cys769Ter) | |
7 | g.150948964_150948967del | CA2530854113 | KCNH2 | n.3314_3317del c.2481_2484del (p.Tyr827Ter) c.1461_1464del (p.Tyr487Ter) c.2181_2184del (p.Tyr727Ter) c.2331_2334del (p.Tyr777Ter) c.2304_2307del (p.Tyr768Ter) | |
7 | g.150948965C>A | CA369855117 | KCNH2 | n.3316G>T c.2483G>T (p.Cys828Phe) c.1463G>T (p.Cys488Phe) c.2183G>T (p.Cys728Phe) c.2333G>T (p.Cys778Phe) c.2306G>T (p.Cys769Phe) | |
7 | g.150948965C>G | CA369855116 | KCNH2 | n.3316G>C c.2483G>C (p.Cys828Ser) c.1463G>C (p.Cys488Ser) c.2183G>C (p.Cys728Ser) c.2333G>C (p.Cys778Ser) c.2306G>C (p.Cys769Ser) | |
7 | g.150948965C>T | CA369855114 | KCNH2 | n.3316G>A c.2483G>A (p.Cys828Tyr) c.1463G>A (p.Cys488Tyr) c.2183G>A (p.Cys728Tyr) c.2333G>A (p.Cys778Tyr) c.2306G>A (p.Cys769Tyr) | |
7 | g.150948966A= | CA1752431979 | KCNH2 | n.3315T= c.2482T= (p.Cys828=) c.1462T= (p.Cys488=) c.2182T= (p.Cys728=) c.2332T= (p.Cys778=) c.2305T= (p.Cys769=) | |
7 | g.150948966A>C | CA369855120 | KCNH2 | n.3315T>G c.2482T>G (p.Cys828Gly) c.1462T>G (p.Cys488Gly) c.2182T>G (p.Cys728Gly) c.2332T>G (p.Cys778Gly) c.2305T>G (p.Cys769Gly) | |
7 | g.150948966A>G | CA369855122 | KCNH2 | n.3315T>C c.2482T>C (p.Cys828Arg) c.1462T>C (p.Cys488Arg) c.2182T>C (p.Cys728Arg) c.2332T>C (p.Cys778Arg) c.2305T>C (p.Cys769Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150948966A>T | CA369855121 | KCNH2 | n.3315T>A c.2482T>A (p.Cys828Ser) c.1462T>A (p.Cys488Ser) c.2182T>A (p.Cys728Ser) c.2332T>A (p.Cys778Ser) c.2305T>A (p.Cys769Ser) | ClinVar gnomAD v4 |
7 | g.150948967G>A | CA458645174 | KCNH2 | n.3314C>T c.2481C>T (p.Tyr827=) c.1461C>T (p.Tyr487=) c.2181C>T (p.Tyr727=) c.2331C>T (p.Tyr777=) c.2304C>T (p.Tyr768=) | |
7 | g.150948967G>C | CA369855124 | KCNH2 | n.3314C>G c.2481C>G (p.Tyr827Ter) c.1461C>G (p.Tyr487Ter) c.2181C>G (p.Tyr727Ter) c.2331C>G (p.Tyr777Ter) c.2304C>G (p.Tyr768Ter) | |
7 | g.150948967G>T | CA369855126 | KCNH2 | n.3314C>A c.2481C>A (p.Tyr827Ter) c.1461C>A (p.Tyr487Ter) c.2181C>A (p.Tyr727Ter) c.2331C>A (p.Tyr777Ter) c.2304C>A (p.Tyr768Ter) | |
7 | g.150948968T>A | CA369855128 | KCNH2 | n.3313A>T c.2480A>T (p.Tyr827Phe) c.1460A>T (p.Tyr487Phe) c.2180A>T (p.Tyr727Phe) c.2330A>T (p.Tyr777Phe) c.2303A>T (p.Tyr768Phe) | |
7 | g.150948968T>C | CA369855130 | KCNH2 | n.3313A>G c.2480A>G (p.Tyr827Cys) c.1460A>G (p.Tyr487Cys) c.2180A>G (p.Tyr727Cys) c.2330A>G (p.Tyr777Cys) c.2303A>G (p.Tyr768Cys) | |
7 | g.150948968T>G | CA369855132 | KCNH2 | n.3313A>C c.2480A>C (p.Tyr827Ser) c.1460A>C (p.Tyr487Ser) c.2180A>C (p.Tyr727Ser) c.2330A>C (p.Tyr777Ser) c.2303A>C (p.Tyr768Ser) |