| 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.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 |