| 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.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) |