Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
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.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
7 | g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | CA916080377 | KCNH2 | n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG | |
7 | g.150947592_150947617dup | CA2685602113 | KCNH2 | n.3787_3798+14dup c.2954_2965+14dup c.1934_1945+14dup c.2654_2665+14dup c.*34_*45+14dup c.2804_2815+14dup c.2777_2788+14dup | gnomAD v4 |
7 | g.150947608G>A | CA369853038 | KCNH2 | n.3796C>T c.2963C>T (p.Ser988Leu) c.1943C>T (p.Ser648Leu) c.2663C>T (p.Ser888Leu) c.*43C>T (n.*43C>T) c.2813C>T (p.Ser938Leu) c.2786C>T (p.Ser929Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947608G>C | CA369853039 | KCNH2 | n.3796C>G c.2963C>G (p.Ser988Ter) c.1943C>G (p.Ser648Ter) c.2663C>G (p.Ser888Ter) c.*43C>G (n.*43C>G) c.2813C>G (p.Ser938Ter) c.2786C>G (p.Ser929Ter) | |
7 | g.150947608G= | CA1752429696 | KCNH2 | n.3796C= c.2963C= (p.Ser988=) c.1943C= (p.Ser648=) c.2663C= (p.Ser888=) c.*43C= (n.*43C=) c.2813C= (p.Ser938=) c.2786C= (p.Ser929=) | |
7 | g.150947608G>T | CA369853040 | KCNH2 | n.3796C>A c.2963C>A (p.Ser988Ter) c.1943C>A (p.Ser648Ter) c.2663C>A (p.Ser888Ter) c.*43C>A (n.*43C>A) c.2813C>A (p.Ser938Ter) c.2786C>A (p.Ser929Ter) | |
7 | g.150947609A= | CA1752429702 | KCNH2 | n.3795T= c.2962T= (p.Ser988=) c.1942T= (p.Ser648=) c.2662T= (p.Ser888=) c.*42T= (n.*42T=) c.2812T= (p.Ser938=) c.2785T= (p.Ser929=) | |
7 | g.150947609A>C | CA035667 | KCNH2 | n.3795T>G c.2962T>G (p.Ser988Ala) c.1942T>G (p.Ser648Ala) c.2662T>G (p.Ser888Ala) c.*42T>G (n.*42T>G) c.2812T>G (p.Ser938Ala) c.2785T>G (p.Ser929Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947609A>G | CA369853041 | KCNH2 | n.3795T>C c.2962T>C (p.Ser988Pro) c.1942T>C (p.Ser648Pro) c.2662T>C (p.Ser888Pro) c.*42T>C (n.*42T>C) c.2812T>C (p.Ser938Pro) c.2785T>C (p.Ser929Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947609A>T | CA369853042 | KCNH2 | n.3795T>A c.2962T>A (p.Ser988Thr) c.1942T>A (p.Ser648Thr) c.2662T>A (p.Ser888Thr) c.*42T>A (n.*42T>A) c.2812T>A (p.Ser938Thr) c.2785T>A (p.Ser929Thr) | |
7 | g.150947610C>A | CA458870767 | KCNH2 | n.3794G>T c.2961G>T (p.Leu987=) c.1941G>T (p.Leu647=) c.2661G>T (p.Leu887=) c.*41G>T (n.*41G>T) c.2811G>T (p.Leu937=) c.2784G>T (p.Leu928=) | dbSNP gnomAD v4 |
7 | g.150947610C= | CA1752429710 | KCNH2 | n.3794G= c.2961G= (p.Leu987=) c.1941G= (p.Leu647=) c.2661G= (p.Leu887=) c.*41G= (n.*41G=) c.2811G= (p.Leu937=) c.2784G= (p.Leu928=) | |
7 | g.150947610C>G | CA035625 | KCNH2 | n.3794G>C c.2961G>C (p.Leu987=) c.1941G>C (p.Leu647=) c.2661G>C (p.Leu887=) c.*41G>C (n.*41G>C) c.2811G>C (p.Leu937=) c.2784G>C (p.Leu928=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947610C>T | CA458870768 | KCNH2 | n.3794G>A c.2961G>A (p.Leu987=) c.1941G>A (p.Leu647=) c.2661G>A (p.Leu887=) c.*41G>A (n.*41G>A) c.2811G>A (p.Leu937=) c.2784G>A (p.Leu928=) | gnomAD v4 |
7 | g.150947610_150947611delinsCA | CA1752429707 | KCNH2 | n.3793_3794delinsTG c.2960_2961delinsTG (p.Leu987=) c.1940_1941delinsTG (p.Leu647=) c.2660_2661delinsTG (p.Leu887=) c.*40_*41delinsTG (n.*40_*41delinsTG) c.2810_2811delinsTG (p.Leu937=) c.2783_2784delinsTG (p.Leu928=) | |
7 | g.150947610_150947612delinsCAG | CA1752429713 | KCNH2 | n.3792_3794delinsCTG c.2959_2961delinsCTG (p.Leu987=) c.1939_1941delinsCTG (p.Leu647=) c.2659_2661delinsCTG (p.Leu887=) c.*39_*41delinsCTG (n.*39_*41delinsCTG) c.2809_2811delinsCTG (p.Leu937=) c.2782_2784delinsCTG (p.Leu928=) | |
7 | g.150947611del | CA1139660334 | KCNH2 | n.3793del c.2960del (p.Leu987ArgfsTer?) c.1940del (p.Leu647ArgfsTer?) c.2660del (p.Leu887ArgfsTer?) c.*40del (n.*40del) c.2810del (p.Leu937ArgfsTer?) c.2783del (p.Leu928ArgfsTer?) | ClinVar dbSNP |
7 | g.150947611A= | CA1752429723 | KCNH2 | n.3793T= c.2960T= (p.Leu987=) c.1940T= (p.Leu647=) c.2660T= (p.Leu887=) c.*40T= (n.*40T=) c.2810T= (p.Leu937=) c.2783T= (p.Leu928=) | |
7 | g.150947611A>C | CA369853043 | KCNH2 | n.3793T>G c.2960T>G (p.Leu987Arg) c.1940T>G (p.Leu647Arg) c.2660T>G (p.Leu887Arg) c.*40T>G (n.*40T>G) c.2810T>G (p.Leu937Arg) c.2783T>G (p.Leu928Arg) | |
7 | g.150947611A>G | CA369853044 | KCNH2 | n.3793T>C c.2960T>C (p.Leu987Pro) c.1940T>C (p.Leu647Pro) c.2660T>C (p.Leu887Pro) c.*40T>C (n.*40T>C) c.2810T>C (p.Leu937Pro) c.2783T>C (p.Leu928Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947611A>T | CA369853045 | KCNH2 | n.3793T>A c.2960T>A (p.Leu987Gln) c.1940T>A (p.Leu647Gln) c.2660T>A (p.Leu887Gln) c.*40T>A (n.*40T>A) c.2810T>A (p.Leu937Gln) c.2783T>A (p.Leu928Gln) | gnomAD v4 |
7 | g.150947611_150947612del | CA007697 | KCNH2 | n.3792_3793del c.2959_2960del (p.Leu987ValfsTer?) c.1939_1940del (p.Leu647ValfsTer?) c.2659_2660del (p.Leu887ValfsTer?) c.*39_*40del (n.*39_*40del) c.2809_2810del (p.Leu937ValfsTer?) c.2782_2783del (p.Leu928ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947611_150947615dup | CA2695208800 | KCNH2 | n.3789_3793dup c.2956_2960dup (p.Ser988ProfsTer?) c.1936_1940dup (p.Ser648ProfsTer?) c.2656_2660dup (p.Ser888ProfsTer?) c.*36_*40dup (n.*36_*40dup) c.2806_2810dup (p.Ser938ProfsTer?) c.2779_2783dup (p.Ser929ProfsTer?) | |
7 | g.150947612G>A | CA458870770 | KCNH2 | n.3792C>T c.2959C>T (p.Leu987=) c.1939C>T (p.Leu647=) c.2659C>T (p.Leu887=) c.*39C>T (n.*39C>T) c.2809C>T (p.Leu937=) c.2782C>T (p.Leu928=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947612G>C | CA369853046 | KCNH2 | n.3792C>G c.2959C>G (p.Leu987Val) c.1939C>G (p.Leu647Val) c.2659C>G (p.Leu887Val) c.*39C>G (n.*39C>G) c.2809C>G (p.Leu937Val) c.2782C>G (p.Leu928Val) | |
7 | g.150947612G= | CA1752429732 | KCNH2 | n.3792C= c.2959C= (p.Leu987=) c.1939C= (p.Leu647=) c.2659C= (p.Leu887=) c.*39C= (n.*39C=) c.2809C= (p.Leu937=) c.2782C= (p.Leu928=) | |
7 | g.150947612G>T | CA369853047 | KCNH2 | n.3792C>A c.2959C>A (p.Leu987Met) c.1939C>A (p.Leu647Met) c.2659C>A (p.Leu887Met) c.*39C>A (n.*39C>A) c.2809C>A (p.Leu937Met) c.2782C>A (p.Leu928Met) | |
7 | g.150947616dup | CA2499218787 | KCNH2 | n.3792dup c.2959dup (p.Leu987ProfsTer?) c.1939dup (p.Leu647ProfsTer?) c.2659dup (p.Leu887ProfsTer?) c.*39dup (n.*39dup) c.2809dup (p.Leu937ProfsTer?) c.2782dup (p.Leu928ProfsTer?) | ClinVar dbSNP |
7 | g.150947616del | CA658761315 | KCNH2 | n.3792del c.2959del (p.Leu987CysfsTer?) c.1939del (p.Leu647CysfsTer?) c.2659del (p.Leu887CysfsTer?) c.*39del (n.*39del) c.2809del (p.Leu937CysfsTer?) c.2782del (p.Leu928CysfsTer?) | |
7 | g.150947613G>A | CA458870771 | KCNH2 | n.3791C>T c.2958C>T (p.Pro986=) c.1938C>T (p.Pro646=) c.2658C>T (p.Pro886=) c.*38C>T (n.*38C>T) c.2808C>T (p.Pro936=) c.2781C>T (p.Pro927=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947613G>C | CA458870772 | KCNH2 | n.3791C>G c.2958C>G (p.Pro986=) c.1938C>G (p.Pro646=) c.2658C>G (p.Pro886=) c.*38C>G (n.*38C>G) c.2808C>G (p.Pro936=) c.2781C>G (p.Pro927=) | |
7 | g.150947613G>T | CA458870773 | KCNH2 | n.3791C>A c.2958C>A (p.Pro986=) c.1938C>A (p.Pro646=) c.2658C>A (p.Pro886=) c.*38C>A (n.*38C>A) c.2808C>A (p.Pro936=) c.2781C>A (p.Pro927=) | |
7 | g.150947614G>A | CA369853048 | KCNH2 | n.3790C>T c.2957C>T (p.Pro986Leu) c.1937C>T (p.Pro646Leu) c.2657C>T (p.Pro886Leu) c.*37C>T (n.*37C>T) c.2807C>T (p.Pro936Leu) c.2780C>T (p.Pro927Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947614G>C | CA369853049 | KCNH2 | n.3790C>G c.2957C>G (p.Pro986Arg) c.1937C>G (p.Pro646Arg) c.2657C>G (p.Pro886Arg) c.*37C>G (n.*37C>G) c.2807C>G (p.Pro936Arg) c.2780C>G (p.Pro927Arg) | |
7 | g.150947614G= | CA1752429738 | KCNH2 | n.3790C= c.2957C= (p.Pro986=) c.1937C= (p.Pro646=) c.2657C= (p.Pro886=) c.*37C= (n.*37C=) c.2807C= (p.Pro936=) c.2780C= (p.Pro927=) | |
7 | g.150947614G>T | CA369853050 | KCNH2 | n.3790C>A c.2957C>A (p.Pro986His) c.1937C>A (p.Pro646His) c.2657C>A (p.Pro886His) c.*37C>A (n.*37C>A) c.2807C>A (p.Pro936His) c.2780C>A (p.Pro927His) | gnomAD v4 |
7 | g.150947615G>A | CA369853051 | KCNH2 | n.3789C>T c.2956C>T (p.Pro986Ser) c.1936C>T (p.Pro646Ser) c.2656C>T (p.Pro886Ser) c.*36C>T (n.*36C>T) c.2806C>T (p.Pro936Ser) c.2779C>T (p.Pro927Ser) | dbSNP gnomAD v4 |
7 | g.150947615G>C | CA369853052 | KCNH2 | n.3789C>G c.2956C>G (p.Pro986Ala) c.1936C>G (p.Pro646Ala) c.2656C>G (p.Pro886Ala) c.*36C>G (n.*36C>G) c.2806C>G (p.Pro936Ala) c.2779C>G (p.Pro927Ala) | |
7 | g.150947615G= | CA1752429743 | KCNH2 | n.3789C= c.2956C= (p.Pro986=) c.1936C= (p.Pro646=) c.2656C= (p.Pro886=) c.*36C= (n.*36C=) c.2806C= (p.Pro936=) c.2779C= (p.Pro927=) | |
7 | g.150947615G>T | CA369853053 | KCNH2 | n.3789C>A c.2956C>A (p.Pro986Thr) c.1936C>A (p.Pro646Thr) c.2656C>A (p.Pro886Thr) c.*36C>A (n.*36C>A) c.2806C>A (p.Pro936Thr) c.2779C>A (p.Pro927Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947616G>A | CA458870776 | KCNH2 | n.3788C>T c.2955C>T (p.Asn985=) c.1935C>T (p.Asn645=) c.2655C>T (p.Asn885=) c.*35C>T (n.*35C>T) c.2805C>T (p.Asn935=) c.2778C>T (p.Asn926=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947616G>C | CA369853055 | KCNH2 | n.3788C>G c.2955C>G (p.Asn985Lys) c.1935C>G (p.Asn645Lys) c.2655C>G (p.Asn885Lys) c.*35C>G (n.*35C>G) c.2805C>G (p.Asn935Lys) c.2778C>G (p.Asn926Lys) | |
7 | g.150947616G= | CA1752429748 | KCNH2 | n.3788C= c.2955C= (p.Asn985=) c.1935C= (p.Asn645=) c.2655C= (p.Asn885=) c.*35C= (n.*35C=) c.2805C= (p.Asn935=) c.2778C= (p.Asn926=) | |
7 | g.150947616G>T | CA369853054 | KCNH2 | n.3788C>A c.2955C>A (p.Asn985Lys) c.1935C>A (p.Asn645Lys) c.2655C>A (p.Asn885Lys) c.*35C>A (n.*35C>A) c.2805C>A (p.Asn935Lys) c.2778C>A (p.Asn926Lys) | |
7 | g.150947617T>A | CA369853056 | KCNH2 | n.3787A>T c.2954A>T (p.Asn985Ile) c.1934A>T (p.Asn645Ile) c.2654A>T (p.Asn885Ile) c.*34A>T (n.*34A>T) c.2804A>T (p.Asn935Ile) c.2777A>T (p.Asn926Ile) | |
7 | g.150947617T>C | CA007690 | KCNH2 | n.3787A>G c.2954A>G (p.Asn985Ser) c.1934A>G (p.Asn645Ser) c.2654A>G (p.Asn885Ser) c.*34A>G (n.*34A>G) c.2804A>G (p.Asn935Ser) c.2777A>G (p.Asn926Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947617T>G | CA369853057 | KCNH2 | n.3787A>C c.2954A>C (p.Asn985Thr) c.1934A>C (p.Asn645Thr) c.2654A>C (p.Asn885Thr) c.*34A>C (n.*34A>C) c.2804A>C (p.Asn935Thr) c.2777A>C (p.Asn926Thr) |