Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150948873T>ACA369854724KCNH2n.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)
7g.150948873T>CCA369854726KCNH2n.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)
7g.150948873T>GCA369854728KCNH2n.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)
7g.150948874G>ACA458645121KCNH2n.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
7g.150948874G>CCA369854730KCNH2n.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)
7g.150948874G=CA1752431850KCNH2n.3407C=
c.2574C= (p.Ile858=)
c.1554C= (p.Ile518=)
c.2274C= (p.Ile758=)
c.2424C= (p.Ile808=)
c.2397C= (p.Ile799=)
7g.150948874G>TCA458645122KCNH2n.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=)
7g.150948875A=CA1752431852KCNH2n.3406T=
c.2573T= (p.Ile858=)
c.1553T= (p.Ile518=)
c.2273T= (p.Ile758=)
c.2423T= (p.Ile808=)
c.2396T= (p.Ile799=)
7g.150948875A>CCA369854732KCNH2n.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)
7g.150948875A>GCA006942KCNH2n.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
7g.150948875A>TCA369854734KCNH2n.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)
7g.150948876T>ACA369854737KCNH2n.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)
7g.150948876T>CCA033047KCNH2n.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
7g.150948876T>GCA369854739KCNH2n.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)
7g.150948876T=CA1752431856KCNH2n.3405A=
c.2572A= (p.Ile858=)
c.1552A= (p.Ile518=)
c.2272A= (p.Ile758=)
c.2422A= (p.Ile808=)
c.2395A= (p.Ile799=)
7g.150948877C>ACA369854741KCNH2n.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)
7g.150948877C>GCA369854743KCNH2n.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)
7g.150948877C>TCA458645123KCNH2n.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
7g.150948878T>ACA369854746KCNH2n.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)
7g.150948878T>CCA369854748KCNH2n.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)
7g.150948878T>GCA369854749KCNH2n.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)
7g.150948879C>ACA369854752KCNH2n.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)
7g.150948879C>GCA369854753KCNH2n.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)
7g.150948879C>TCA369854754KCNH2n.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
7g.150948880C>ACA458645125KCNH2n.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=)
7g.150948880C=CA1752431858KCNH2n.3401G=
c.2568G= (p.Leu856=)
c.1548G= (p.Leu516=)
c.2268G= (p.Leu756=)
c.2418G= (p.Leu806=)
c.2391G= (p.Leu797=)
7g.150948880C>GCA458645124KCNH2n.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=)
7g.150948880C>TCA458645126KCNH2n.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
7g.150948881A>CCA369854755KCNH2n.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)
7g.150948881A>GCA369854756KCNH2n.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)
7g.150948881A>TCA369854757KCNH2n.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)
7g.150948881dupCA2580077784KCNH2n.3400dup
c.2567dup (p.Glu857GlyfsTer?)
c.1547dup (p.Glu517GlyfsTer?)
c.2267dup (p.Glu757GlyfsTer?)
c.2417dup (p.Glu807GlyfsTer?)
c.2390dup (p.Glu798GlyfsTer?)
ClinVar
7g.150948882G>ACA458645127KCNH2n.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
7g.150948882G>CCA369854759KCNH2n.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
7g.150948882G=CA1752431861KCNH2n.3399C=
c.2566C= (p.Leu856=)
c.1546C= (p.Leu516=)
c.2266C= (p.Leu756=)
c.2416C= (p.Leu806=)
c.2389C= (p.Leu797=)
7g.150948882G>TCA369854761KCNH2n.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)
7g.150948883G>ACA458645128KCNH2n.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=)
7g.150948883G>CCA369854763KCNH2n.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
7g.150948883G=CA1752431866KCNH2n.3398C=
c.2565C= (p.Ser855=)
c.1545C= (p.Ser515=)
c.2265C= (p.Ser755=)
c.2415C= (p.Ser805=)
c.2388C= (p.Ser796=)
7g.150948883G>TCA369854764KCNH2n.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
7g.150948884C>ACA369854767KCNH2n.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)
7g.150948884C>GCA369854769KCNH2n.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)
7g.150948884C>TCA369854770KCNH2n.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
7g.150948885T>ACA369854771KCNH2n.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)
7g.150948885T>CCA369854773KCNH2n.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)
7g.150948885T>GCA369854775KCNH2n.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)
7g.150948886G>ACA169074743KCNH2n.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
7g.150948886G>CCA458645129KCNH2n.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=)
7g.150948886G=CA1752431869KCNH2n.3395C=
c.2562C= (p.Ser854=)
c.1542C= (p.Ser514=)
c.2262C= (p.Ser754=)
c.2412C= (p.Ser804=)
c.2385C= (p.Ser795=)
7g.150948886G>TCA458645130KCNH2n.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=)
7g.150948887G>ACA369854777KCNH2n.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)
7g.150948887G>CCA369854779KCNH2n.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)
7g.150948887G>TCA369854781KCNH2n.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)
7g.150948888A>CCA369854787KCNH2n.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
7g.150948888A>GCA369854783KCNH2n.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)
7g.150948888A>TCA369854785KCNH2n.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)
7g.150948889C>ACA369854789KCNH2n.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)
7g.150948889C>GCA369854793KCNH2n.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)
7g.150948889C>TCA369854791KCNH2n.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
7g.150948890delCA2695208824KCNH2n.3392del
c.2559del (p.Trp853CysfsTer15)
c.1539del (p.Trp513CysfsTer15)
c.2259del (p.Trp753CysfsTer15)
c.2409del (p.Trp803CysfsTer15)
c.2382del (p.Trp794CysfsTer15)
7g.150948890C>ACA369854795KCNH2n.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)
7g.150948890C>GCA369854798KCNH2n.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)
7g.150948890C>TCA369854796KCNH2n.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)
7g.150948891A>CCA369854800KCNH2n.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)
7g.150948891A>GCA369854802KCNH2n.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)
7g.150948891A>TCA369854803KCNH2n.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)
7g.150948892G>ACA458645131KCNH2n.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=)
7g.150948892G>CCA369854805KCNH2n.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)
7g.150948892G>TCA369854807KCNH2n.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)
7g.150948893A>CCA369854808KCNH2n.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)
7g.150948893A>GCA369854810KCNH2n.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)
7g.150948893A>TCA369854812KCNH2n.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)
7g.150948894delCA2499218794KCNH2n.3388del
c.2555del (p.Phe852SerfsTer16)
c.1535del (p.Phe512SerfsTer16)
c.2255del (p.Phe752SerfsTer16)
c.2405del (p.Phe802SerfsTer16)
c.2378del (p.Phe793SerfsTer16)
ClinVar dbSNP
7g.150948894A>CCA369854814KCNH2n.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)
7g.150948894A>GCA369854816KCNH2n.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)
7g.150948894A>TCA369854818KCNH2n.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)
7g.150948895G>ACA458645132KCNH2n.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
7g.150948895G>CCA369854820KCNH2n.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)
7g.150948895G=CA1752431873KCNH2n.3386C=
c.2553C= (p.His851=)
c.1533C= (p.His511=)
c.2253C= (p.His751=)
c.2403C= (p.His801=)
c.2376C= (p.His792=)
7g.150948895G>TCA369854822KCNH2n.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)
7g.150948896T>ACA369854824KCNH2n.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)
7g.150948896T>CCA369854827KCNH2n.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)
7g.150948896T>GCA369854826KCNH2n.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)
7g.150948897G>ACA369854829KCNH2n.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)
7g.150948897G>CCA369854830KCNH2n.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
7g.150948897G>TCA369854832KCNH2n.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)
7g.150948898G>ACA458645133KCNH2n.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=)
7g.150948898G>CCA369854834KCNH2n.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)
7g.150948898G>TCA369854835KCNH2n.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)
7g.150948899T>ACA369854838KCNH2n.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
7g.150948899T>CCA369854840KCNH2n.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)
7g.150948899T>GCA369854841KCNH2n.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)
7g.150948900C>ACA369854844KCNH2n.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
7g.150948900C=CA1752431881KCNH2n.3381G=
c.2548G= (p.Asp850=)
c.1528G= (p.Asp510=)
c.2248G= (p.Asp750=)
c.2398G= (p.Asp800=)
c.2371G= (p.Asp791=)
7g.150948900C>GCA369854845KCNH2n.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
7g.150948900C>TCA169074750KCNH2n.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
7g.150948901G>ACA033018KCNH2n.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
7g.150948901G>CCA458645135KCNH2n.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
7g.150948901G=CA1752431885KCNH2n.3380C=
c.2547C= (p.Ser849=)
c.1527C= (p.Ser509=)
c.2247C= (p.Ser749=)
c.2397C= (p.Ser799=)
c.2370C= (p.Ser790=)
7g.150948901G>TCA458645134KCNH2n.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=)
7g.150948902G>ACA369854853KCNH2n.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
7g.150948902G>CCA369854849KCNH2n.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)
7g.150948902G=CA1752431889KCNH2n.3379C=
c.2546C= (p.Ser849=)
c.1526C= (p.Ser509=)
c.2246C= (p.Ser749=)
c.2396C= (p.Ser799=)
c.2369C= (p.Ser790=)
7g.150948902G>TCA369854851KCNH2n.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)
7g.150948903A=CA1752431893KCNH2n.3378T=
c.2545T= (p.Ser849=)
c.1525T= (p.Ser509=)
c.2245T= (p.Ser749=)
c.2395T= (p.Ser799=)
c.2368T= (p.Ser790=)
7g.150948903A>CCA369854855KCNH2n.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)
7g.150948903A>GCA369854857KCNH2n.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)
7g.150948903A>TCA369854859KCNH2n.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
7g.150948904G>ACA458645136KCNH2n.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=)
7g.150948904G>CCA369854861KCNH2n.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)
7g.150948904G>TCA369854863KCNH2n.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)
7g.150948905A>CCA369854865KCNH2n.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)
7g.150948905A>GCA369854867KCNH2n.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)
7g.150948905A>TCA369854869KCNH2n.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)
7g.150948906A>CCA369854871KCNH2n.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)
7g.150948906A>GCA369854873KCNH2n.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)
7g.150948906A>TCA369854875KCNH2n.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)
7g.150948907C>ACA169074754KCNH2n.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
7g.150948907C=CA1752431896KCNH2n.3374G=
c.2541G= (p.Glu847=)
c.1521G= (p.Glu507=)
c.2241G= (p.Glu747=)
c.2391G= (p.Glu797=)
c.2364G= (p.Glu788=)
7g.150948907C>GCA369854877KCNH2n.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)
7g.150948907C>TCA458645137KCNH2n.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
7g.150948907_150948914delCA2739278692KCNH2n.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
7g.150948908T>ACA369854880KCNH2n.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)
7g.150948908T>CCA369854882KCNH2n.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)
7g.150948908T>GCA369854884KCNH2n.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
7g.150948909C>ACA369854886KCNH2n.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)
7g.150948909C>GCA369854887KCNH2n.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
7g.150948909C>TCA369854889KCNH2n.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)
7g.150948910A=CA1752431897KCNH2n.3371T=
c.2538T= (p.Pro846=)
c.1518T= (p.Pro506=)
c.2238T= (p.Pro746=)
c.2388T= (p.Pro796=)
c.2361T= (p.Pro787=)
7g.150948910A>CCA458645138KCNH2n.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=)
7g.150948910A>GCA033010KCNH2n.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
7g.150948910A>TCA458645139KCNH2n.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=)
7g.150948911G>ACA16612301KCNH2n.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
7g.150948911G>CCA369854893KCNH2n.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)
7g.150948911G=CA1752431898KCNH2n.3370C=
c.2537C= (p.Pro846=)
c.1517C= (p.Pro506=)
c.2237C= (p.Pro746=)
c.2387C= (p.Pro796=)
c.2360C= (p.Pro787=)
7g.150948911G>TCA369854895KCNH2n.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)
7g.150948912_150948913delCA2573141855KCNH2n.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
7g.150948912G>ACA006916KCNH2n.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
7g.150948912G>CCA006908KCNH2n.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
7g.150948912G=CA1752431903KCNH2n.3369C=
c.2536C= (p.Pro846=)
c.1516C= (p.Pro506=)
c.2236C= (p.Pro746=)
c.2386C= (p.Pro796=)
c.2359C= (p.Pro787=)
7g.150948912G>TCA006897KCNH2n.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
7g.150948913G>ACA169074755KCNH2n.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
7g.150948913G>CCA369854902KCNH2n.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)
7g.150948913G=CA1752431910KCNH2n.3368C=
c.2535C= (p.Tyr845=)
c.1515C= (p.Tyr505=)
c.2235C= (p.Tyr745=)
c.2385C= (p.Tyr795=)
c.2358C= (p.Tyr786=)
7g.150948913G>TCA369854901KCNH2n.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)
7g.150948913_150948916delinsTTAACA2695208825KCNH2n.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)
7g.150948914T>ACA369854905KCNH2n.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)
7g.150948914T>CCA369854907KCNH2n.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)
7g.150948914T>GCA369854908KCNH2n.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)
7g.150948915A>CCA369854909KCNH2n.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
7g.150948915A>GCA369854911KCNH2n.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
7g.150948915A>TCA369854913KCNH2n.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
7g.150948916C>ACA369854915KCNH2n.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)
7g.150948916C>GCA369854917KCNH2n.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)
7g.150948916C>TCA369854919KCNH2n.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)
7g.150948917A>CCA369854921KCNH2n.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
7g.150948917A>GCA369854922KCNH2n.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
7g.150948917A>TCA369854924KCNH2n.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)
7g.150948918T>ACA369854929KCNH2n.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
7g.150948918T>CCA032997KCNH2n.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
7g.150948918T>GCA369854926KCNH2n.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)
7g.150948918T=CA1752431914KCNH2n.3363A=
c.2530A= (p.Met844=)
c.1510A= (p.Met504=)
c.2230A= (p.Met744=)
c.2380A= (p.Met794=)
c.2353A= (p.Met785=)
7g.150948919G>ACA458645140KCNH2n.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
7g.150948919G>CCA369854931KCNH2n.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)
7g.150948919G>TCA369854933KCNH2n.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)
7g.150948920T>ACA032957KCNH2n.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
7g.150948920T>CCA369854936KCNH2n.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
7g.150948920T>GCA369854938KCNH2n.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)
7g.150948920T=CA1752431918KCNH2n.3361A=
c.2528A= (p.Asp843=)
c.1508A= (p.Asp503=)
c.2228A= (p.Asp743=)
c.2378A= (p.Asp793=)
c.2351A= (p.Asp784=)
7g.150948921C>ACA369854940KCNH2n.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)
7g.150948921C>GCA369854942KCNH2n.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)
7g.150948921C>TCA369854944KCNH2n.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)
7g.150948922C>ACA458645142KCNH2n.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=)
7g.150948922C>GCA458645143KCNH2n.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=)
7g.150948922C>TCA458645141KCNH2n.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=)
7g.150948923A=CA1752431923KCNH2n.3358T=
c.2525T= (p.Leu842=)
c.1505T= (p.Leu502=)
c.2225T= (p.Leu742=)
c.2375T= (p.Leu792=)
c.2348T= (p.Leu783=)
7g.150948923A>CCA369854946KCNH2n.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)
7g.150948923A>GCA369854948KCNH2n.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
7g.150948923A>TCA369854950KCNH2n.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)
7g.150948924G>ACA458645144KCNH2n.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
7g.150948924G>CCA369854952KCNH2n.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
7g.150948924G>TCA369854953KCNH2n.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)
7g.150948925C>ACA458645145KCNH2n.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=)
7g.150948925C>GCA458645146KCNH2n.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
7g.150948925C>TCA458645147KCNH2n.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=)
7g.150948926A=CA1752431924KCNH2n.3355T=
c.2522T= (p.Val841=)
c.1502T= (p.Val501=)
c.2222T= (p.Val741=)
c.2372T= (p.Val791=)
c.2345T= (p.Val782=)
7g.150948926A>CCA369854956KCNH2n.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
7g.150948926A>GCA369854958KCNH2n.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)
7g.150948926A>TCA369854954KCNH2n.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)
7g.150948927C>ACA369854960KCNH2n.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
7g.150948927C>GCA369854962KCNH2n.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)
7g.150948927C>TCA369854964KCNH2n.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)
7g.150948928C>ACA369854966KCNH2n.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)
7g.150948928C>GCA369854968KCNH2n.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)
7g.150948928C>TCA458645148KCNH2n.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=)
7g.150948929T>ACA369854970KCNH2n.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
7g.150948929T>CCA369854971KCNH2n.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)
7g.150948929T>GCA369854973KCNH2n.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)
7g.150948930C>ACA369854976KCNH2n.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)
7g.150948930C=CA1752431926KCNH2n.3351G=
c.2518G= (p.Glu840=)
c.1498G= (p.Glu500=)
c.2218G= (p.Glu740=)
c.2368G= (p.Glu790=)
c.2341G= (p.Glu781=)
7g.150948930C>GCA032944KCNH2n.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
7g.150948930C>TCA369854977KCNH2n.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)
7g.150948931C>ACA458645149KCNH2n.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=)
7g.150948931C>GCA458645150KCNH2n.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=)
7g.150948931C>TCA458645151KCNH2n.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
7g.150948932A>CCA369854983KCNH2n.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)
7g.150948932A>GCA369854981KCNH2n.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)
7g.150948932A>TCA369854979KCNH2n.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)
7g.150948933G>ACA458645152KCNH2n.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=)
7g.150948933G>CCA369854985KCNH2n.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)
7g.150948933G=CA1752431927KCNH2n.3348C=
c.2515C= (p.Leu839=)
c.1495C= (p.Leu499=)
c.2215C= (p.Leu739=)
c.2365C= (p.Leu789=)
c.2338C= (p.Leu780=)
7g.150948933G>TCA369854987KCNH2n.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
7g.150948934C>ACA458645153KCNH2n.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
7g.150948934C>GCA458645155KCNH2n.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=)
7g.150948934C>TCA458645154KCNH2n.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=)
7g.150948935A>CCA369854989KCNH2n.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)
7g.150948935A>GCA369854991KCNH2n.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)
7g.150948935A>TCA369854993KCNH2n.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)
7g.150948936G>ACA458645156KCNH2n.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=)
7g.150948936G>CCA369854995KCNH2n.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)
7g.150948936G>TCA369854997KCNH2n.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)
7g.150948937G>ACA458645158KCNH2n.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
7g.150948937G>CCA369854999KCNH2n.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)
7g.150948937G=CA1752431933KCNH2n.3344C=
c.2511C= (p.Asp837=)
c.1491C= (p.Asp497=)
c.2211C= (p.Asp737=)
c.2361C= (p.Asp787=)
c.2334C= (p.Asp778=)
7g.150948937G>TCA369855001KCNH2n.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)
7g.150948938T>ACA369855003KCNH2n.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)
7g.150948938T>CCA006888KCNH2n.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
7g.150948938T>GCA369855005KCNH2n.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)
7g.150948938T=CA1752431937KCNH2n.3343A=
c.2510A= (p.Asp837=)
c.1490A= (p.Asp497=)
c.2210A= (p.Asp737=)
c.2360A= (p.Asp787=)
c.2333A= (p.Asp778=)
7g.150948939C>ACA006879KCNH2n.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
7g.150948939C=CA1752431942KCNH2n.3342G=
c.2509G= (p.Asp837=)
c.1489G= (p.Asp497=)
c.2209G= (p.Asp737=)
c.2359G= (p.Asp787=)
c.2332G= (p.Asp778=)
7g.150948939C>GCA369855009KCNH2n.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
7g.150948939C>TCA006870KCNH2n.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
7g.150948940G>ACA169074781KCNH2n.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
7g.150948940G>CCA369855012KCNH2n.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
7g.150948940G=CA1752431947KCNH2n.3341C=
c.2508C= (p.Asp836=)
c.1488C= (p.Asp496=)
c.2208C= (p.Asp736=)
c.2358C= (p.Asp786=)
c.2331C= (p.Asp777=)
7g.150948940G>TCA369855014KCNH2n.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)
7g.150948941T>ACA369855017KCNH2n.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)
7g.150948941T>CCA369855021KCNH2n.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)
7g.150948941T>GCA369855019KCNH2n.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)
7g.150948942C>ACA369855023KCNH2n.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)
7g.150948942C>GCA369855024KCNH2n.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)
7g.150948942C>TCA369855026KCNH2n.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)
7g.150948944_150948980delCA645565632KCNH2n.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
7g.150948943C>ACA458645159KCNH2n.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=)
7g.150948943C>GCA458645160KCNH2n.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=)
7g.150948943C>TCA458645161KCNH2n.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=)
7g.150948944C>ACA369855028KCNH2n.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)
7g.150948944C=CA1752431953KCNH2n.3337G=
c.2504G= (p.Arg835=)
c.1484G= (p.Arg495=)
c.2204G= (p.Arg735=)
c.2354G= (p.Arg785=)
c.2327G= (p.Arg776=)
7g.150948944C>GCA369855030KCNH2n.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)
7g.150948944C>TCA006860KCNH2n.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
7g.150948945delCA2695208826KCNH2n.3336del
c.2503del (p.Arg835GlyfsTer?)
c.1483del (p.Arg495GlyfsTer?)
c.2203del (p.Arg735GlyfsTer?)
c.2353del (p.Arg785GlyfsTer?)
c.2326del (p.Arg776GlyfsTer?)
7g.150948945G>ACA006850KCNH2n.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
7g.150948945G>CCA369855034KCNH2n.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)
7g.150948945G=CA1752431955KCNH2n.3336C=
c.2503C= (p.Arg835=)
c.1483C= (p.Arg495=)
c.2203C= (p.Arg735=)
c.2353C= (p.Arg785=)
c.2326C= (p.Arg776=)
7g.150948945G>TCA458645162KCNH2n.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
7g.150948946A>CCA369855035KCNH2n.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)
7g.150948946A>GCA458645163KCNH2n.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=)
7g.150948946A>TCA369855038KCNH2n.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)
7g.150948947T>ACA369855040KCNH2n.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)
7g.150948947T>CCA032931KCNH2n.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
7g.150948947T>GCA369855042KCNH2n.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)
7g.150948947T=CA1752431958KCNH2n.3334A=
c.2501A= (p.His834=)
c.1481A= (p.His494=)
c.2201A= (p.His734=)
c.2351A= (p.His784=)
c.2324A= (p.His775=)
7g.150948948G>ACA369855044KCNH2n.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
7g.150948948G>CCA369855048KCNH2n.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)
7g.150948948G=CA1752431960KCNH2n.3333C=
c.2500C= (p.His834=)
c.1480C= (p.His494=)
c.2200C= (p.His734=)
c.2350C= (p.His784=)
c.2323C= (p.His775=)
7g.150948948G>TCA369855046KCNH2n.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)
7g.150948949G>ACA458645165KCNH2n.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=)
7g.150948949G>CCA369855050KCNH2n.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)
7g.150948949G>TCA458645166KCNH2n.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=)
7g.150948950A>CCA369855051KCNH2n.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)
7g.150948950A>GCA369855053KCNH2n.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)
7g.150948950A>TCA369855054KCNH2n.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)
7g.150948951T>ACA369855055KCNH2n.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)
7g.150948951T>CCA369855057KCNH2n.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)
7g.150948951T>GCA369855058KCNH2n.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)
7g.150948952C>ACA369855059KCNH2n.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)
7g.150948952C>GCA369855060KCNH2n.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)
7g.150948952C>TCA458645167KCNH2n.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=)
7g.150948953T>ACA369855066KCNH2n.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)
7g.150948953T>CCA369855064KCNH2n.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)
7g.150948953T>GCA369855062KCNH2n.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)
7g.150948954T>ACA006840KCNH2n.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
7g.150948954T>CCA369855068KCNH2n.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)
7g.150948954T>GCA369855070KCNH2n.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)
7g.150948954T=CA1752431961KCNH2n.3327A=
c.2494A= (p.Lys832=)
c.1474A= (p.Lys492=)
c.2194A= (p.Lys732=)
c.2344A= (p.Lys782=)
c.2317A= (p.Lys773=)
7g.150948955G>ACA458645168KCNH2n.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
7g.150948955G>CCA369855071KCNH2n.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)
7g.150948955G>TCA369855073KCNH2n.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)
7g.150948956T>ACA369855078KCNH2n.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)
7g.150948956T>CCA369855077KCNH2n.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
7g.150948956T>GCA369855075KCNH2n.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)
7g.150948956_150948966delinsTGTAGGTCACACA1752431965KCNH2n.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=)
7g.150948957G>ACA369855081KCNH2n.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)
7g.150948957G>CCA369855083KCNH2n.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)
7g.150948957G>TCA369855084KCNH2n.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)
7g.150948963_150948972delCA658797039KCNH2n.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
7g.150948958T>ACA458645169KCNH2n.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=)
7g.150948958T>CCA458645170KCNH2n.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=)
7g.150948958T>GCA458645171KCNH2n.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=)
7g.150948959A>CCA369855087KCNH2n.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)
7g.150948959A>GCA369855088KCNH2n.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)
7g.150948959A>TCA369855090KCNH2n.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)
7g.150948960G>ACA032910KCNH2n.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
7g.150948960G>CCA369855093KCNH2n.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
7g.150948960G=CA1752431969KCNH2n.3321C=
c.2488C= (p.Leu830=)
c.1468C= (p.Leu490=)
c.2188C= (p.Leu730=)
c.2338C= (p.Leu780=)
c.2311C= (p.Leu771=)
7g.150948960G>TCA369855092KCNH2n.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)
7g.150948964_150949161delCA2573141856KCNH2n.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
7g.150948961G>ACA458645172KCNH2n.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=)
7g.150948961G>CCA032903KCNH2n.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
7g.150948961G=CA1752431970KCNH2n.3320C=
c.2487C= (p.Asp829=)
c.1467C= (p.Asp489=)
c.2187C= (p.Asp729=)
c.2337C= (p.Asp779=)
c.2310C= (p.Asp770=)
7g.150948961G>TCA369855096KCNH2n.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)
7g.150948962T>ACA369855098KCNH2n.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)
7g.150948962T>CCA369855100KCNH2n.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
7g.150948962T>GCA369855102KCNH2n.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
7g.150948962T=CA1752431973KCNH2n.3319A=
c.2486A= (p.Asp829=)
c.1466A= (p.Asp489=)
c.2186A= (p.Asp729=)
c.2336A= (p.Asp779=)
c.2309A= (p.Asp770=)
7g.150948963C>ACA369855104KCNH2n.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)
7g.150948963C>GCA369855106KCNH2n.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)
7g.150948963C>TCA369855108KCNH2n.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)
7g.150948964A>CCA369855110KCNH2n.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)
7g.150948964A>GCA458645173KCNH2n.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=)
7g.150948964A>TCA369855112KCNH2n.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)
7g.150948964_150948967delCA2530854113KCNH2n.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)
7g.150948965C>ACA369855117KCNH2n.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)
7g.150948965C>GCA369855116KCNH2n.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)
7g.150948965C>TCA369855114KCNH2n.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)
7g.150948966A=CA1752431979KCNH2n.3315T=
c.2482T= (p.Cys828=)
c.1462T= (p.Cys488=)
c.2182T= (p.Cys728=)
c.2332T= (p.Cys778=)
c.2305T= (p.Cys769=)
7g.150948966A>CCA369855120KCNH2n.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)
7g.150948966A>GCA369855122KCNH2n.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
7g.150948966A>TCA369855121KCNH2n.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
7g.150948967G>ACA458645174KCNH2n.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=)
7g.150948967G>CCA369855124KCNH2n.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)
7g.150948967G>TCA369855126KCNH2n.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)
7g.150948968T>ACA369855128KCNH2n.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)
7g.150948968T>CCA369855130KCNH2n.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)
7g.150948968T>GCA369855132KCNH2n.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)
7g.150948969A>CCA369855134KCNH2n.3312T>G
c.2479T>G (p.Tyr827Asp)
c.1459T>G (p.Tyr487Asp)
c.2179T>G (p.Tyr727Asp)
c.2329T>G (p.Tyr777Asp)
c.2302T>G (p.Tyr768Asp)
7g.150948969A>GCA369855136KCNH2n.3312T>C
c.2479T>C (p.Tyr827His)
c.1459T>C (p.Tyr487His)
c.2179T>C (p.Tyr727His)
c.2329T>C (p.Tyr777His)
c.2302T>C (p.Tyr768His)
7g.150948969A>TCA369855137KCNH2n.3312T>A
c.2479T>A (p.Tyr827Asn)
c.1459T>A (p.Tyr487Asn)
c.2179T>A (p.Tyr727Asn)
c.2329T>A (p.Tyr777Asn)
c.2302T>A (p.Tyr768Asn)
7g.150948970G>ACA032883KCNH2n.3311C>T
c.2478C>T (p.Thr826=)
c.1458C>T (p.Thr486=)
c.2178C>T (p.Thr726=)
c.2328C>T (p.Thr776=)
c.2301C>T (p.Thr767=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948970G>CCA458645175KCNH2n.3311C>G
c.2478C>G (p.Thr826=)
c.1458C>G (p.Thr486=)
c.2178C>G (p.Thr726=)
c.2328C>G (p.Thr776=)
c.2301C>G (p.Thr767=)
7g.150948970G=CA1752431985KCNH2n.3311C=
c.2478C= (p.Thr826=)
c.1458C= (p.Thr486=)
c.2178C= (p.Thr726=)
c.2328C= (p.Thr776=)
c.2301C= (p.Thr767=)
7g.150948970G>TCA458645176KCNH2n.3311C>A
c.2478C>A (p.Thr826=)
c.1458C>A (p.Thr486=)
c.2178C>A (p.Thr726=)
c.2328C>A (p.Thr776=)
c.2301C>A (p.Thr767=)
7g.150948971G>ACA006823KCNH2n.3310C>T
c.2477C>T (p.Thr826Ile)
c.1457C>T (p.Thr486Ile)
c.2177C>T (p.Thr726Ile)
c.2327C>T (p.Thr776Ile)
c.2300C>T (p.Thr767Ile)
ClinVar dbSNP gnomAD v4
7g.150948971G>CCA369855140KCNH2n.3310C>G
c.2477C>G (p.Thr826Ser)
c.1457C>G (p.Thr486Ser)
c.2177C>G (p.Thr726Ser)
c.2327C>G (p.Thr776Ser)
c.2300C>G (p.Thr767Ser)
dbSNP
7g.150948971G=CA1752431987KCNH2n.3310C=
c.2477C= (p.Thr826=)
c.1457C= (p.Thr486=)
c.2177C= (p.Thr726=)
c.2327C= (p.Thr776=)
c.2300C= (p.Thr767=)
7g.150948971G>TCA369855142KCNH2n.3310C>A
c.2477C>A (p.Thr826Asn)
c.1457C>A (p.Thr486Asn)
c.2177C>A (p.Thr726Asn)
c.2327C>A (p.Thr776Asn)
c.2300C>A (p.Thr767Asn)
7g.150948972T>ACA369855145KCNH2n.3309A>T
c.2476A>T (p.Thr826Ser)
c.1456A>T (p.Thr486Ser)
c.2176A>T (p.Thr726Ser)
c.2326A>T (p.Thr776Ser)
c.2299A>T (p.Thr767Ser)
7g.150948972T>CCA369855147KCNH2n.3309A>G
c.2476A>G (p.Thr826Ala)
c.1456A>G (p.Thr486Ala)
c.2176A>G (p.Thr726Ala)
c.2326A>G (p.Thr776Ala)
c.2299A>G (p.Thr767Ala)
gnomAD v4
7g.150948972T>GCA369855146KCNH2n.3309A>C
c.2476A>C (p.Thr826Pro)
c.1456A>C (p.Thr486Pro)
c.2176A>C (p.Thr726Pro)
c.2326A>C (p.Thr776Pro)
c.2299A>C (p.Thr767Pro)
7g.150948973G>ACA169074818KCNH2n.3308C>T
c.2475C>T (p.Leu825=)
c.1455C>T (p.Leu485=)
c.2175C>T (p.Leu725=)
c.2325C>T (p.Leu775=)
c.2298C>T (p.Leu766=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948973G>CCA458645177KCNH2n.3308C>G
c.2475C>G (p.Leu825=)
c.1455C>G (p.Leu485=)
c.2175C>G (p.Leu725=)
c.2325C>G (p.Leu775=)
c.2298C>G (p.Leu766=)
7g.150948973G=CA1752431992KCNH2n.3308C=
c.2475C= (p.Leu825=)
c.1455C= (p.Leu485=)
c.2175C= (p.Leu725=)
c.2325C= (p.Leu775=)
c.2298C= (p.Leu766=)
7g.150948973G>TCA458645178KCNH2n.3308C>A
c.2475C>A (p.Leu825=)
c.1455C>A (p.Leu485=)
c.2175C>A (p.Leu725=)
c.2325C>A (p.Leu775=)
c.2298C>A (p.Leu766=)
7g.150948974_150948975delCA2507623695KCNH2n.3307_3308del
c.2474_2475del (p.Leu825HisfsTer4)
c.1454_1455del (p.Leu485HisfsTer4)
c.2174_2175del (p.Leu725HisfsTer4)
c.2324_2325del (p.Leu775HisfsTer4)
c.2297_2298del (p.Leu766HisfsTer4)

Number of alleles fetched