| 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.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 |