Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150945412G>A | CA369851428 | KCNH2 | n.4266C>T c.3433C>T (p.Leu1145Phe) c.2413C>T (p.Leu805Phe) c.3133C>T (p.Leu1045Phe) c.3283C>T (p.Leu1095Phe) c.3256C>T (p.Leu1086Phe) | |
7 | g.150945412G>C | CA369851429 | KCNH2 | n.4266C>G c.3433C>G (p.Leu1145Val) c.2413C>G (p.Leu805Val) c.3133C>G (p.Leu1045Val) c.3283C>G (p.Leu1095Val) c.3256C>G (p.Leu1086Val) | ClinVar |
7 | g.150945412G>T | CA369851430 | KCNH2 | n.4266C>A c.3433C>A (p.Leu1145Ile) c.2413C>A (p.Leu805Ile) c.3133C>A (p.Leu1045Ile) c.3283C>A (p.Leu1095Ile) c.3256C>A (p.Leu1086Ile) | gnomAD v4 |
7 | g.150945413G>A | CA458644532 | KCNH2 | n.4265C>T c.3432C>T (p.Ala1144=) c.2412C>T (p.Ala804=) c.3132C>T (p.Ala1044=) c.3282C>T (p.Ala1094=) c.3255C>T (p.Ala1085=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945413G>C | CA458644533 | KCNH2 | n.4265C>G c.3432C>G (p.Ala1144=) c.2412C>G (p.Ala804=) c.3132C>G (p.Ala1044=) c.3282C>G (p.Ala1094=) c.3255C>G (p.Ala1085=) | |
7 | g.150945413G>T | CA458644534 | KCNH2 | n.4265C>A c.3432C>A (p.Ala1144=) c.2412C>A (p.Ala804=) c.3132C>A (p.Ala1044=) c.3282C>A (p.Ala1094=) c.3255C>A (p.Ala1085=) | gnomAD v4 |
7 | g.150945414G>A | CA369851431 | KCNH2 | n.4264C>T c.3431C>T (p.Ala1144Val) c.2411C>T (p.Ala804Val) c.3131C>T (p.Ala1044Val) c.3281C>T (p.Ala1094Val) c.3254C>T (p.Ala1085Val) | gnomAD v4 |
7 | g.150945414G>C | CA369851432 | KCNH2 | n.4264C>G c.3431C>G (p.Ala1144Gly) c.2411C>G (p.Ala804Gly) c.3131C>G (p.Ala1044Gly) c.3281C>G (p.Ala1094Gly) c.3254C>G (p.Ala1085Gly) | |
7 | g.150945414G>T | CA369851433 | KCNH2 | n.4264C>A c.3431C>A (p.Ala1144Asp) c.2411C>A (p.Ala804Asp) c.3131C>A (p.Ala1044Asp) c.3281C>A (p.Ala1094Asp) c.3254C>A (p.Ala1085Asp) | gnomAD v4 COSMIC COSMIC |
7 | g.150945415C>A | CA169070340 | KCNH2 | n.4263G>T c.3430G>T (p.Ala1144Ser) c.2410G>T (p.Ala804Ser) c.3130G>T (p.Ala1044Ser) c.3280G>T (p.Ala1094Ser) c.3253G>T (p.Ala1085Ser) | dbSNP gnomAD v4 |
7 | g.150945415C= | CA1752425652 | KCNH2 | n.4263G= c.3430G= (p.Ala1144=) c.2410G= (p.Ala804=) c.3130G= (p.Ala1044=) c.3280G= (p.Ala1094=) c.3253G= (p.Ala1085=) | |
7 | g.150945415C>G | CA369851434 | KCNH2 | n.4263G>C c.3430G>C (p.Ala1144Pro) c.2410G>C (p.Ala804Pro) c.3130G>C (p.Ala1044Pro) c.3280G>C (p.Ala1094Pro) c.3253G>C (p.Ala1085Pro) | |
7 | g.150945415C>T | CA008308 | KCNH2 | n.4263G>A c.3430G>A (p.Ala1144Thr) c.2410G>A (p.Ala804Thr) c.3130G>A (p.Ala1044Thr) c.3280G>A (p.Ala1094Thr) c.3253G>A (p.Ala1085Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945419del | CA458644535 | KCNH2 | n.4263del c.3430del (p.Ala1144ProfsTer?) c.2410del (p.Ala804ProfsTer?) c.3130del (p.Ala1044ProfsTer?) c.3280del (p.Ala1094ProfsTer?) c.3253del (p.Ala1085ProfsTer?) | gnomAD v4 COSMIC COSMIC |
7 | g.150945416C>A | CA038989 | KCNH2 | n.4262G>T c.3429G>T (p.Gly1143=) c.2409G>T (p.Gly803=) c.3129G>T (p.Gly1043=) c.3279G>T (p.Gly1093=) c.3252G>T (p.Gly1084=) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.150945416C= | CA1752425654 | KCNH2 | n.4262G= c.3429G= (p.Gly1143=) c.2409G= (p.Gly803=) c.3129G= (p.Gly1043=) c.3279G= (p.Gly1093=) c.3252G= (p.Gly1084=) | |
7 | g.150945416C>G | CA458644536 | KCNH2 | n.4262G>C c.3429G>C (p.Gly1143=) c.2409G>C (p.Gly803=) c.3129G>C (p.Gly1043=) c.3279G>C (p.Gly1093=) c.3252G>C (p.Gly1084=) | |
7 | g.150945416C>T | CA458644537 | KCNH2 | n.4262G>A c.3429G>A (p.Gly1143=) c.2409G>A (p.Gly803=) c.3129G>A (p.Gly1043=) c.3279G>A (p.Gly1093=) c.3252G>A (p.Gly1084=) | dbSNP gnomAD v4 |
7 | g.150945417C>A | CA369851435 | KCNH2 | n.4261G>T c.3428G>T (p.Gly1143Val) c.2408G>T (p.Gly803Val) c.3128G>T (p.Gly1043Val) c.3278G>T (p.Gly1093Val) c.3251G>T (p.Gly1084Val) | dbSNP gnomAD v4 |
7 | g.150945417C= | CA1752425656 | KCNH2 | n.4261G= c.3428G= (p.Gly1143=) c.2408G= (p.Gly803=) c.3128G= (p.Gly1043=) c.3278G= (p.Gly1093=) c.3251G= (p.Gly1084=) | |
7 | g.150945417C>G | CA369851436 | KCNH2 | n.4261G>C c.3428G>C (p.Gly1143Ala) c.2408G>C (p.Gly803Ala) c.3128G>C (p.Gly1043Ala) c.3278G>C (p.Gly1093Ala) c.3251G>C (p.Gly1084Ala) | |
7 | g.150945417C>T | CA369851437 | KCNH2 | n.4261G>A c.3428G>A (p.Gly1143Glu) c.2408G>A (p.Gly803Glu) c.3128G>A (p.Gly1043Glu) c.3278G>A (p.Gly1093Glu) c.3251G>A (p.Gly1084Glu) | gnomAD v4 |
7 | g.150945418C>A | CA369851438 | KCNH2 | n.4260G>T c.3427G>T (p.Gly1143Trp) c.2407G>T (p.Gly803Trp) c.3127G>T (p.Gly1043Trp) c.3277G>T (p.Gly1093Trp) c.3250G>T (p.Gly1084Trp) | gnomAD v4 |
7 | g.150945418C>G | CA369851440 | KCNH2 | n.4260G>C c.3427G>C (p.Gly1143Arg) c.2407G>C (p.Gly803Arg) c.3127G>C (p.Gly1043Arg) c.3277G>C (p.Gly1093Arg) c.3250G>C (p.Gly1084Arg) | |
7 | g.150945418C>T | CA369851439 | KCNH2 | n.4260G>A c.3427G>A (p.Gly1143Arg) c.2407G>A (p.Gly803Arg) c.3127G>A (p.Gly1043Arg) c.3277G>A (p.Gly1093Arg) c.3250G>A (p.Gly1084Arg) | gnomAD v4 |
7 | g.150945419C>A | CA458644538 | KCNH2 | n.4259G>T c.3426G>T (p.Leu1142=) c.2406G>T (p.Leu802=) c.3126G>T (p.Leu1042=) c.3276G>T (p.Leu1092=) c.3249G>T (p.Leu1083=) | gnomAD v4 |
7 | g.150945419C>G | CA458644539 | KCNH2 | n.4259G>C c.3426G>C (p.Leu1142=) c.2406G>C (p.Leu802=) c.3126G>C (p.Leu1042=) c.3276G>C (p.Leu1092=) c.3249G>C (p.Leu1083=) | |
7 | g.150945419C>T | CA458644540 | KCNH2 | n.4259G>A c.3426G>A (p.Leu1142=) c.2406G>A (p.Leu802=) c.3126G>A (p.Leu1042=) c.3276G>A (p.Leu1092=) c.3249G>A (p.Leu1083=) | gnomAD v4 COSMIC COSMIC |
7 | g.150945420A>C | CA369851441 | KCNH2 | n.4258T>G c.3425T>G (p.Leu1142Arg) c.2405T>G (p.Leu802Arg) c.3125T>G (p.Leu1042Arg) c.3275T>G (p.Leu1092Arg) c.3248T>G (p.Leu1083Arg) | |
7 | g.150945420A>G | CA369851442 | KCNH2 | n.4258T>C c.3425T>C (p.Leu1142Pro) c.2405T>C (p.Leu802Pro) c.3125T>C (p.Leu1042Pro) c.3275T>C (p.Leu1092Pro) c.3248T>C (p.Leu1083Pro) | |
7 | g.150945420A>T | CA369851443 | KCNH2 | n.4258T>A c.3425T>A (p.Leu1142Gln) c.2405T>A (p.Leu802Gln) c.3125T>A (p.Leu1042Gln) c.3275T>A (p.Leu1092Gln) c.3248T>A (p.Leu1083Gln) | |
7 | g.150945421G>A | CA458644541 | KCNH2 | n.4257C>T c.3424C>T (p.Leu1142=) c.2404C>T (p.Leu802=) c.3124C>T (p.Leu1042=) c.3274C>T (p.Leu1092=) c.3247C>T (p.Leu1083=) | gnomAD v4 |
7 | g.150945421G>C | CA369851444 | KCNH2 | n.4257C>G c.3424C>G (p.Leu1142Val) c.2404C>G (p.Leu802Val) c.3124C>G (p.Leu1042Val) c.3274C>G (p.Leu1092Val) c.3247C>G (p.Leu1083Val) | |
7 | g.150945421G>T | CA369851445 | KCNH2 | n.4257C>A c.3424C>A (p.Leu1142Met) c.2404C>A (p.Leu802Met) c.3124C>A (p.Leu1042Met) c.3274C>A (p.Leu1092Met) c.3247C>A (p.Leu1083Met) | gnomAD v4 |
7 | g.150945422C>A | CA369851446 | KCNH2 | n.4256G>T c.3423G>T (p.Gln1141His) c.2403G>T (p.Gln801His) c.3123G>T (p.Gln1041His) c.3273G>T (p.Gln1091His) c.3246G>T (p.Gln1082His) | gnomAD v4 |
7 | g.150945422C>G | CA369851447 | KCNH2 | n.4256G>C c.3423G>C (p.Gln1141His) c.2403G>C (p.Gln801His) c.3123G>C (p.Gln1041His) c.3273G>C (p.Gln1091His) c.3246G>C (p.Gln1082His) | |
7 | g.150945422C>T | CA458644542 | KCNH2 | n.4256G>A c.3423G>A (p.Gln1141=) c.2403G>A (p.Gln801=) c.3123G>A (p.Gln1041=) c.3273G>A (p.Gln1091=) c.3246G>A (p.Gln1082=) | gnomAD v4 |
7 | g.150945423T>A | CA369851448 | KCNH2 | n.4255A>T c.3422A>T (p.Gln1141Leu) c.2402A>T (p.Gln801Leu) c.3122A>T (p.Gln1041Leu) c.3272A>T (p.Gln1091Leu) c.3245A>T (p.Gln1082Leu) | |
7 | g.150945423T>C | CA369851449 | KCNH2 | n.4255A>G c.3422A>G (p.Gln1141Arg) c.2402A>G (p.Gln801Arg) c.3122A>G (p.Gln1041Arg) c.3272A>G (p.Gln1091Arg) c.3245A>G (p.Gln1082Arg) | gnomAD v4 |
7 | g.150945423T>G | CA369851450 | KCNH2 | n.4255A>C c.3422A>C (p.Gln1141Pro) c.2402A>C (p.Gln801Pro) c.3122A>C (p.Gln1041Pro) c.3272A>C (p.Gln1091Pro) c.3245A>C (p.Gln1082Pro) | |
7 | g.150945424G>A | CA369851453 | KCNH2 | n.4254C>T c.3421C>T (p.Gln1141Ter) c.2401C>T (p.Gln801Ter) c.3121C>T (p.Gln1041Ter) c.3271C>T (p.Gln1091Ter) c.3244C>T (p.Gln1082Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945424G>C | CA369851452 | KCNH2 | n.4254C>G c.3421C>G (p.Gln1141Glu) c.2401C>G (p.Gln801Glu) c.3121C>G (p.Gln1041Glu) c.3271C>G (p.Gln1091Glu) c.3244C>G (p.Gln1082Glu) | |
7 | g.150945424G= | CA1752425659 | KCNH2 | n.4254C= c.3421C= (p.Gln1141=) c.2401C= (p.Gln801=) c.3121C= (p.Gln1041=) c.3271C= (p.Gln1091=) c.3244C= (p.Gln1082=) | |
7 | g.150945424G>T | CA369851451 | KCNH2 | n.4254C>A c.3421C>A (p.Gln1141Lys) c.2401C>A (p.Gln801Lys) c.3121C>A (p.Gln1041Lys) c.3271C>A (p.Gln1091Lys) c.3244C>A (p.Gln1082Lys) | gnomAD v4 |
7 | g.150945425G>A | CA458644545 | KCNH2 | n.4253C>T c.3420C>T (p.Gly1140=) c.2400C>T (p.Gly800=) c.3120C>T (p.Gly1040=) c.3270C>T (p.Gly1090=) c.3243C>T (p.Gly1081=) | |
7 | g.150945425G>C | CA458644544 | KCNH2 | n.4253C>G c.3420C>G (p.Gly1140=) c.2400C>G (p.Gly800=) c.3120C>G (p.Gly1040=) c.3270C>G (p.Gly1090=) c.3243C>G (p.Gly1081=) | |
7 | g.150945425G>T | CA458644543 | KCNH2 | n.4253C>A c.3420C>A (p.Gly1140=) c.2400C>A (p.Gly800=) c.3120C>A (p.Gly1040=) c.3270C>A (p.Gly1090=) c.3243C>A (p.Gly1081=) | gnomAD v4 |
7 | g.150945426C>A | CA369851454 | KCNH2 | n.4252G>T c.3419G>T (p.Gly1140Val) c.2399G>T (p.Gly800Val) c.3119G>T (p.Gly1040Val) c.3269G>T (p.Gly1090Val) c.3242G>T (p.Gly1081Val) | gnomAD v4 |
7 | g.150945426C>G | CA369851455 | KCNH2 | n.4252G>C c.3419G>C (p.Gly1140Ala) c.2399G>C (p.Gly800Ala) c.3119G>C (p.Gly1040Ala) c.3269G>C (p.Gly1090Ala) c.3242G>C (p.Gly1081Ala) | |
7 | g.150945426C>T | CA369851456 | KCNH2 | n.4252G>A c.3419G>A (p.Gly1140Asp) c.2399G>A (p.Gly800Asp) c.3119G>A (p.Gly1040Asp) c.3269G>A (p.Gly1090Asp) c.3242G>A (p.Gly1081Asp) | gnomAD v4 |
7 | g.150945428dup | CA2695208685 | KCNH2 | n.4252dup c.3419dup (p.Gln1141ProfsTer?) c.2399dup (p.Gln801ProfsTer?) c.3119dup (p.Gln1041ProfsTer?) c.3269dup (p.Gln1091ProfsTer?) c.3242dup (p.Gln1082ProfsTer?) | |
7 | g.150945428del | CA2580077675 | KCNH2 | n.4252del c.3419del (p.Gly1140AlafsTer?) c.2399del (p.Gly800AlafsTer?) c.3119del (p.Gly1040AlafsTer?) c.3269del (p.Gly1090AlafsTer?) c.3242del (p.Gly1081AlafsTer?) | ClinVar |
7 | g.150945427C>A | CA369851457 | KCNH2 | n.4251G>T c.3418G>T (p.Gly1140Cys) c.2398G>T (p.Gly800Cys) c.3118G>T (p.Gly1040Cys) c.3268G>T (p.Gly1090Cys) c.3241G>T (p.Gly1081Cys) | |
7 | g.150945427C>G | CA369851458 | KCNH2 | n.4251G>C c.3418G>C (p.Gly1140Arg) c.2398G>C (p.Gly800Arg) c.3118G>C (p.Gly1040Arg) c.3268G>C (p.Gly1090Arg) c.3241G>C (p.Gly1081Arg) | |
7 | g.150945427C>T | CA369851459 | KCNH2 | n.4251G>A c.3418G>A (p.Gly1140Ser) c.2398G>A (p.Gly800Ser) c.3118G>A (p.Gly1040Ser) c.3268G>A (p.Gly1090Ser) c.3241G>A (p.Gly1081Ser) | gnomAD v4 |
7 | g.150945428C>A | CA458644546 | KCNH2 | n.4250G>T c.3417G>T (p.Pro1139=) c.2397G>T (p.Pro799=) c.3117G>T (p.Pro1039=) c.3267G>T (p.Pro1089=) c.3240G>T (p.Pro1080=) | gnomAD v4 |
7 | g.150945428C= | CA1752425662 | KCNH2 | n.4250G= c.3417G= (p.Pro1139=) c.2397G= (p.Pro799=) c.3117G= (p.Pro1039=) c.3267G= (p.Pro1089=) c.3240G= (p.Pro1080=) | |
7 | g.150945428C>G | CA458644547 | KCNH2 | n.4250G>C c.3417G>C (p.Pro1139=) c.2397G>C (p.Pro799=) c.3117G>C (p.Pro1039=) c.3267G>C (p.Pro1089=) c.3240G>C (p.Pro1080=) | ClinVar |
7 | g.150945428C>T | CA038973 | KCNH2 | n.4250G>A c.3417G>A (p.Pro1139=) c.2397G>A (p.Pro799=) c.3117G>A (p.Pro1039=) c.3267G>A (p.Pro1089=) c.3240G>A (p.Pro1080=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945429G>A | CA10628555 | KCNH2 | n.4249C>T c.3416C>T (p.Pro1139Leu) c.2396C>T (p.Pro799Leu) c.3116C>T (p.Pro1039Leu) c.3266C>T (p.Pro1089Leu) c.3239C>T (p.Pro1080Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945429G>C | CA369851460 | KCNH2 | n.4249C>G c.3416C>G (p.Pro1139Arg) c.2396C>G (p.Pro799Arg) c.3116C>G (p.Pro1039Arg) c.3266C>G (p.Pro1089Arg) c.3239C>G (p.Pro1080Arg) | |
7 | g.150945429G= | CA1752425668 | KCNH2 | n.4249C= c.3416C= (p.Pro1139=) c.2396C= (p.Pro799=) c.3116C= (p.Pro1039=) c.3266C= (p.Pro1089=) c.3239C= (p.Pro1080=) | |
7 | g.150945429G>T | CA369851461 | KCNH2 | n.4249C>A c.3416C>A (p.Pro1139Gln) c.2396C>A (p.Pro799Gln) c.3116C>A (p.Pro1039Gln) c.3266C>A (p.Pro1089Gln) c.3239C>A (p.Pro1080Gln) | gnomAD v4 |
7 | g.150945430G>A | CA369851462 | KCNH2 | n.4248C>T c.3415C>T (p.Pro1139Ser) c.2395C>T (p.Pro799Ser) c.3115C>T (p.Pro1039Ser) c.3265C>T (p.Pro1089Ser) c.3238C>T (p.Pro1080Ser) | ClinVar gnomAD v4 |
7 | g.150945430G>C | CA369851463 | KCNH2 | n.4248C>G c.3415C>G (p.Pro1139Ala) c.2395C>G (p.Pro799Ala) c.3115C>G (p.Pro1039Ala) c.3265C>G (p.Pro1089Ala) c.3238C>G (p.Pro1080Ala) | |
7 | g.150945430G>T | CA369851464 | KCNH2 | n.4248C>A c.3415C>A (p.Pro1139Thr) c.2395C>A (p.Pro799Thr) c.3115C>A (p.Pro1039Thr) c.3265C>A (p.Pro1089Thr) c.3238C>A (p.Pro1080Thr) | gnomAD v4 |
7 | g.150945431T>A | CA458644548 | KCNH2 | n.4247A>T c.3414A>T (p.Leu1138=) c.2394A>T (p.Leu798=) c.3114A>T (p.Leu1038=) c.3264A>T (p.Leu1088=) c.3237A>T (p.Leu1079=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945431T>C | CA458644549 | KCNH2 | n.4247A>G c.3414A>G (p.Leu1138=) c.2394A>G (p.Leu798=) c.3114A>G (p.Leu1038=) c.3264A>G (p.Leu1088=) c.3237A>G (p.Leu1079=) | gnomAD v4 |
7 | g.150945431T>G | CA458644550 | KCNH2 | n.4247A>C c.3414A>C (p.Leu1138=) c.2394A>C (p.Leu798=) c.3114A>C (p.Leu1038=) c.3264A>C (p.Leu1088=) c.3237A>C (p.Leu1079=) | |
7 | g.150945431T= | CA1752425671 | KCNH2 | n.4247A= c.3414A= (p.Leu1138=) c.2394A= (p.Leu798=) c.3114A= (p.Leu1038=) c.3264A= (p.Leu1088=) c.3237A= (p.Leu1079=) | |
7 | g.150945432A>C | CA369851467 | KCNH2 | n.4246T>G c.3413T>G (p.Leu1138Arg) c.2393T>G (p.Leu798Arg) c.3113T>G (p.Leu1038Arg) c.3263T>G (p.Leu1088Arg) c.3236T>G (p.Leu1079Arg) | |
7 | g.150945432A>G | CA369851465 | KCNH2 | n.4246T>C c.3413T>C (p.Leu1138Pro) c.2393T>C (p.Leu798Pro) c.3113T>C (p.Leu1038Pro) c.3263T>C (p.Leu1088Pro) c.3236T>C (p.Leu1079Pro) | gnomAD v4 |
7 | g.150945432A>T | CA369851466 | KCNH2 | n.4246T>A c.3413T>A (p.Leu1138Gln) c.2393T>A (p.Leu798Gln) c.3113T>A (p.Leu1038Gln) c.3263T>A (p.Leu1088Gln) c.3236T>A (p.Leu1079Gln) | |
7 | g.150945433G>A | CA458644551 | KCNH2 | n.4245C>T c.3412C>T (p.Leu1138=) c.2392C>T (p.Leu798=) c.3112C>T (p.Leu1038=) c.3262C>T (p.Leu1088=) c.3235C>T (p.Leu1079=) | dbSNP |
7 | g.150945433G>C | CA369851468 | KCNH2 | n.4245C>G c.3412C>G (p.Leu1138Val) c.2392C>G (p.Leu798Val) c.3112C>G (p.Leu1038Val) c.3262C>G (p.Leu1088Val) c.3235C>G (p.Leu1079Val) | |
7 | g.150945433G>T | CA369851469 | KCNH2 | n.4245C>A c.3412C>A (p.Leu1138Ile) c.2392C>A (p.Leu798Ile) c.3112C>A (p.Leu1038Ile) c.3262C>A (p.Leu1088Ile) c.3235C>A (p.Leu1079Ile) | gnomAD v4 |
7 | g.150945434G>A | CA458644552 | KCNH2 | n.4244C>T c.3411C>T (p.Ser1137=) c.2391C>T (p.Ser797=) c.3111C>T (p.Ser1037=) c.3261C>T (p.Ser1087=) c.3234C>T (p.Ser1078=) | gnomAD v4 |
7 | g.150945434G>C | CA458644553 | KCNH2 | n.4244C>G c.3411C>G (p.Ser1137=) c.2391C>G (p.Ser797=) c.3111C>G (p.Ser1037=) c.3261C>G (p.Ser1087=) c.3234C>G (p.Ser1078=) | |
7 | g.150945434G>T | CA458644554 | KCNH2 | n.4244C>A c.3411C>A (p.Ser1137=) c.2391C>A (p.Ser797=) c.3111C>A (p.Ser1037=) c.3261C>A (p.Ser1087=) c.3234C>A (p.Ser1078=) | gnomAD v4 |
7 | g.150945435G>A | CA369851470 | KCNH2 | n.4243C>T c.3410C>T (p.Ser1137Phe) c.2390C>T (p.Ser797Phe) c.3110C>T (p.Ser1037Phe) c.3260C>T (p.Ser1087Phe) c.3233C>T (p.Ser1078Phe) | gnomAD v4 |
7 | g.150945435G>C | CA369851471 | KCNH2 | n.4243C>G c.3410C>G (p.Ser1137Cys) c.2390C>G (p.Ser797Cys) c.3110C>G (p.Ser1037Cys) c.3260C>G (p.Ser1087Cys) c.3233C>G (p.Ser1078Cys) | gnomAD v4 |
7 | g.150945435G= | CA1752425675 | KCNH2 | n.4243C= c.3410C= (p.Ser1137=) c.2390C= (p.Ser797=) c.3110C= (p.Ser1037=) c.3260C= (p.Ser1087=) c.3233C= (p.Ser1078=) | |
7 | g.150945435G>T | CA369851472 | KCNH2 | n.4243C>A c.3410C>A (p.Ser1137Tyr) c.2390C>A (p.Ser797Tyr) c.3110C>A (p.Ser1037Tyr) c.3260C>A (p.Ser1087Tyr) c.3233C>A (p.Ser1078Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.150945436A>C | CA369851473 | KCNH2 | n.4242T>G c.3409T>G (p.Ser1137Ala) c.2389T>G (p.Ser797Ala) c.3109T>G (p.Ser1037Ala) c.3259T>G (p.Ser1087Ala) c.3232T>G (p.Ser1078Ala) | |
7 | g.150945436A>G | CA369851474 | KCNH2 | n.4242T>C c.3409T>C (p.Ser1137Pro) c.2389T>C (p.Ser797Pro) c.3109T>C (p.Ser1037Pro) c.3259T>C (p.Ser1087Pro) c.3232T>C (p.Ser1078Pro) | |
7 | g.150945436A>T | CA369851475 | KCNH2 | n.4242T>A c.3409T>A (p.Ser1137Thr) c.2389T>A (p.Ser797Thr) c.3109T>A (p.Ser1037Thr) c.3259T>A (p.Ser1087Thr) c.3232T>A (p.Ser1078Thr) | |
7 | g.150945437G>A | CA458644555 | KCNH2 | n.4241C>T c.3408C>T (p.Leu1136=) c.2388C>T (p.Leu796=) c.3108C>T (p.Leu1036=) c.3258C>T (p.Leu1086=) c.3231C>T (p.Leu1077=) | |
7 | g.150945437G>C | CA458644556 | KCNH2 | n.4241C>G c.3408C>G (p.Leu1136=) c.2388C>G (p.Leu796=) c.3108C>G (p.Leu1036=) c.3258C>G (p.Leu1086=) c.3231C>G (p.Leu1077=) | |
7 | g.150945437G>T | CA458644557 | KCNH2 | n.4241C>A c.3408C>A (p.Leu1136=) c.2388C>A (p.Leu796=) c.3108C>A (p.Leu1036=) c.3258C>A (p.Leu1086=) c.3231C>A (p.Leu1077=) | gnomAD v4 |
7 | g.150945438A>C | CA369851476 | KCNH2 | n.4240T>G c.3407T>G (p.Leu1136Arg) c.2387T>G (p.Leu796Arg) c.3107T>G (p.Leu1036Arg) c.3257T>G (p.Leu1086Arg) c.3230T>G (p.Leu1077Arg) | |
7 | g.150945438A>G | CA369851477 | KCNH2 | n.4240T>C c.3407T>C (p.Leu1136Pro) c.2387T>C (p.Leu796Pro) c.3107T>C (p.Leu1036Pro) c.3257T>C (p.Leu1086Pro) c.3230T>C (p.Leu1077Pro) | |
7 | g.150945438A>T | CA369851478 | KCNH2 | n.4240T>A c.3407T>A (p.Leu1136His) c.2387T>A (p.Leu796His) c.3107T>A (p.Leu1036His) c.3257T>A (p.Leu1086His) c.3230T>A (p.Leu1077His) | |
7 | g.150945439G>A | CA369851481 | KCNH2 | n.4239C>T c.3406C>T (p.Leu1136Phe) c.2386C>T (p.Leu796Phe) c.3106C>T (p.Leu1036Phe) c.3256C>T (p.Leu1086Phe) c.3229C>T (p.Leu1077Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.150945439G>C | CA369851479 | KCNH2 | n.4239C>G c.3406C>G (p.Leu1136Val) c.2386C>G (p.Leu796Val) c.3106C>G (p.Leu1036Val) c.3256C>G (p.Leu1086Val) c.3229C>G (p.Leu1077Val) | gnomAD v4 |
7 | g.150945439G= | CA1752425682 | KCNH2 | n.4239C= c.3406C= (p.Leu1136=) c.2386C= (p.Leu796=) c.3106C= (p.Leu1036=) c.3256C= (p.Leu1086=) c.3229C= (p.Leu1077=) | |
7 | g.150945439G>T | CA369851480 | KCNH2 | n.4239C>A c.3406C>A (p.Leu1136Ile) c.2386C>A (p.Leu796Ile) c.3106C>A (p.Leu1036Ile) c.3256C>A (p.Leu1086Ile) c.3229C>A (p.Leu1077Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.150945439_150945442dup | CA2573052835 | KCNH2 | n.4236_4239dup c.3403_3406dup (p.Leu1136ProfsTer?) c.2383_2386dup (p.Leu796ProfsTer?) c.3103_3106dup (p.Leu1036ProfsTer?) c.3253_3256dup (p.Leu1086ProfsTer?) c.3226_3229dup (p.Leu1077ProfsTer?) | ClinVar dbSNP |
7 | g.150945440G>A | CA458644558 | KCNH2 | n.4238C>T c.3405C>T (p.Arg1135=) c.2385C>T (p.Arg795=) c.3105C>T (p.Arg1035=) c.3255C>T (p.Arg1085=) c.3228C>T (p.Arg1076=) | gnomAD v4 |
7 | g.150945440G>C | CA458644559 | KCNH2 | n.4238C>G c.3405C>G (p.Arg1135=) c.2385C>G (p.Arg795=) c.3105C>G (p.Arg1035=) c.3255C>G (p.Arg1085=) c.3228C>G (p.Arg1076=) | |
7 | g.150945440G>T | CA458644560 | KCNH2 | n.4238C>A c.3405C>A (p.Arg1135=) c.2385C>A (p.Arg795=) c.3105C>A (p.Arg1035=) c.3255C>A (p.Arg1085=) c.3228C>A (p.Arg1076=) | |
7 | g.150945441C>A | CA369851482 | KCNH2 | n.4237G>T c.3404G>T (p.Arg1135Leu) c.2384G>T (p.Arg795Leu) c.3104G>T (p.Arg1035Leu) c.3254G>T (p.Arg1085Leu) c.3227G>T (p.Arg1076Leu) | gnomAD v4 |
7 | g.150945441C= | CA1752425687 | KCNH2 | n.4237G= c.3404G= (p.Arg1135=) c.2384G= (p.Arg795=) c.3104G= (p.Arg1035=) c.3254G= (p.Arg1085=) c.3227G= (p.Arg1076=) | |
7 | g.150945441C>G | CA369851483 | KCNH2 | n.4237G>C c.3404G>C (p.Arg1135Pro) c.2384G>C (p.Arg795Pro) c.3104G>C (p.Arg1035Pro) c.3254G>C (p.Arg1085Pro) c.3227G>C (p.Arg1076Pro) | |
7 | g.150945441C>T | CA008277 | KCNH2 | n.4237G>A c.3404G>A (p.Arg1135His) c.2384G>A (p.Arg795His) c.3104G>A (p.Arg1035His) c.3254G>A (p.Arg1085His) c.3227G>A (p.Arg1076His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945442G>A | CA038959 | KCNH2 | n.4236C>T c.3403C>T (p.Arg1135Cys) c.2383C>T (p.Arg795Cys) c.3103C>T (p.Arg1035Cys) c.3253C>T (p.Arg1085Cys) c.3226C>T (p.Arg1076Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150945442G>C | CA369851485 | KCNH2 | n.4236C>G c.3403C>G (p.Arg1135Gly) c.2383C>G (p.Arg795Gly) c.3103C>G (p.Arg1035Gly) c.3253C>G (p.Arg1085Gly) c.3226C>G (p.Arg1076Gly) | gnomAD v4 |
7 | g.150945442G= | CA1752425691 | KCNH2 | n.4236C= c.3403C= (p.Arg1135=) c.2383C= (p.Arg795=) c.3103C= (p.Arg1035=) c.3253C= (p.Arg1085=) c.3226C= (p.Arg1076=) | |
7 | g.150945442G>T | CA369851484 | KCNH2 | n.4236C>A c.3403C>A (p.Arg1135Ser) c.2383C>A (p.Arg795Ser) c.3103C>A (p.Arg1035Ser) c.3253C>A (p.Arg1085Ser) c.3226C>A (p.Arg1076Ser) | gnomAD v4 |
7 | g.150945443T>A | CA458644561 | KCNH2 | n.4235A>T c.3402A>T (p.Arg1134=) c.2382A>T (p.Arg794=) c.3102A>T (p.Arg1034=) c.3252A>T (p.Arg1084=) c.3225A>T (p.Arg1075=) | |
7 | g.150945443T>C | CA458644563 | KCNH2 | n.4235A>G c.3402A>G (p.Arg1134=) c.2382A>G (p.Arg794=) c.3102A>G (p.Arg1034=) c.3252A>G (p.Arg1084=) c.3225A>G (p.Arg1075=) | |
7 | g.150945443T>G | CA458644562 | KCNH2 | n.4235A>C c.3402A>C (p.Arg1134=) c.2382A>C (p.Arg794=) c.3102A>C (p.Arg1034=) c.3252A>C (p.Arg1084=) c.3225A>C (p.Arg1075=) | |
7 | g.150945444C>A | CA369851486 | KCNH2 | n.4234G>T c.3401G>T (p.Arg1134Leu) c.2381G>T (p.Arg794Leu) c.3101G>T (p.Arg1034Leu) c.3251G>T (p.Arg1084Leu) c.3224G>T (p.Arg1075Leu) | gnomAD v4 |
7 | g.150945444C= | CA1752425696 | KCNH2 | n.4234G= c.3401G= (p.Arg1134=) c.2381G= (p.Arg794=) c.3101G= (p.Arg1034=) c.3251G= (p.Arg1084=) c.3224G= (p.Arg1075=) | |
7 | g.150945444C>G | CA369851487 | KCNH2 | n.4234G>C c.3401G>C (p.Arg1134Pro) c.2381G>C (p.Arg794Pro) c.3101G>C (p.Arg1034Pro) c.3251G>C (p.Arg1084Pro) c.3224G>C (p.Arg1075Pro) | |
7 | g.150945444C>T | CA369851488 | KCNH2 | n.4234G>A c.3401G>A (p.Arg1134Gln) c.2381G>A (p.Arg794Gln) c.3101G>A (p.Arg1034Gln) c.3251G>A (p.Arg1084Gln) c.3224G>A (p.Arg1075Gln) | dbSNP gnomAD v2 |
7 | g.150945445G>A | CA169070357 | KCNH2 | n.4233C>T c.3400C>T (p.Arg1134Ter) c.2380C>T (p.Arg794Ter) c.3100C>T (p.Arg1034Ter) c.3250C>T (p.Arg1084Ter) c.3223C>T (p.Arg1075Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150945445G>C | CA369851489 | KCNH2 | n.4233C>G c.3400C>G (p.Arg1134Gly) c.2380C>G (p.Arg794Gly) c.3100C>G (p.Arg1034Gly) c.3250C>G (p.Arg1084Gly) c.3223C>G (p.Arg1075Gly) | gnomAD v4 |
7 | g.150945445G= | CA1752425705 | KCNH2 | n.4233C= c.3400C= (p.Arg1134=) c.2380C= (p.Arg794=) c.3100C= (p.Arg1034=) c.3250C= (p.Arg1084=) c.3223C= (p.Arg1075=) | |
7 | g.150945445G>T | CA458644564 | KCNH2 | n.4233C>A c.3400C>A (p.Arg1134=) c.2380C>A (p.Arg794=) c.3100C>A (p.Arg1034=) c.3250C>A (p.Arg1084=) c.3223C>A (p.Arg1075=) | gnomAD v4 |
7 | g.150945448_150945449del | CA658761305 | KCNH2 | n.4232_4233del c.3399_3400del (p.Arg1134ThrfsTer?) c.2379_2380del (p.Arg794ThrfsTer?) c.3099_3100del (p.Arg1034ThrfsTer?) c.3249_3250del (p.Arg1084ThrfsTer?) c.3222_3223del (p.Arg1075ThrfsTer?) | |
7 | g.150945446T>A | CA458644565 | KCNH2 | n.4232A>T c.3399A>T (p.Thr1133=) c.2379A>T (p.Thr793=) c.3099A>T (p.Thr1033=) c.3249A>T (p.Thr1083=) c.3222A>T (p.Thr1074=) | |
7 | g.150945446T>C | CA038895 | KCNH2 | n.4232A>G c.3399A>G (p.Thr1133=) c.2379A>G (p.Thr793=) c.3099A>G (p.Thr1033=) c.3249A>G (p.Thr1083=) c.3222A>G (p.Thr1074=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945446T>G | CA458644566 | KCNH2 | n.4232A>C c.3399A>C (p.Thr1133=) c.2379A>C (p.Thr793=) c.3099A>C (p.Thr1033=) c.3249A>C (p.Thr1083=) c.3222A>C (p.Thr1074=) | |
7 | g.150945446T= | CA1752425708 | KCNH2 | n.4232A= c.3399A= (p.Thr1133=) c.2379A= (p.Thr793=) c.3099A= (p.Thr1033=) c.3249A= (p.Thr1083=) c.3222A= (p.Thr1074=) | |
7 | g.150945447G>A | CA369851492 | KCNH2 | n.4231C>T c.3398C>T (p.Thr1133Ile) c.2378C>T (p.Thr793Ile) c.3098C>T (p.Thr1033Ile) c.3248C>T (p.Thr1083Ile) c.3221C>T (p.Thr1074Ile) | gnomAD v4 |
7 | g.150945447G>C | CA369851491 | KCNH2 | n.4231C>G c.3398C>G (p.Thr1133Arg) c.2378C>G (p.Thr793Arg) c.3098C>G (p.Thr1033Arg) c.3248C>G (p.Thr1083Arg) c.3221C>G (p.Thr1074Arg) | |
7 | g.150945447G>T | CA369851490 | KCNH2 | n.4231C>A c.3398C>A (p.Thr1133Lys) c.2378C>A (p.Thr793Lys) c.3098C>A (p.Thr1033Lys) c.3248C>A (p.Thr1083Lys) c.3221C>A (p.Thr1074Lys) | |
7 | g.150945448T>A | CA369851493 | KCNH2 | n.4230A>T c.3397A>T (p.Thr1133Ser) c.2377A>T (p.Thr793Ser) c.3097A>T (p.Thr1033Ser) c.3247A>T (p.Thr1083Ser) c.3220A>T (p.Thr1074Ser) | |
7 | g.150945448T>C | CA369851494 | KCNH2 | n.4230A>G c.3397A>G (p.Thr1133Ala) c.2377A>G (p.Thr793Ala) c.3097A>G (p.Thr1033Ala) c.3247A>G (p.Thr1083Ala) c.3220A>G (p.Thr1074Ala) | |
7 | g.150945448T>G | CA369851495 | KCNH2 | n.4230A>C c.3397A>C (p.Thr1133Pro) c.2377A>C (p.Thr793Pro) c.3097A>C (p.Thr1033Pro) c.3247A>C (p.Thr1083Pro) c.3220A>C (p.Thr1074Pro) | |
7 | g.150945449G>A | CA458644567 | KCNH2 | n.4229C>T c.3396C>T (p.Pro1132=) c.2376C>T (p.Pro792=) c.3096C>T (p.Pro1032=) c.3246C>T (p.Pro1082=) c.3219C>T (p.Pro1073=) | |
7 | g.150945449G>C | CA458644569 | KCNH2 | n.4229C>G c.3396C>G (p.Pro1132=) c.2376C>G (p.Pro792=) c.3096C>G (p.Pro1032=) c.3246C>G (p.Pro1082=) c.3219C>G (p.Pro1073=) | |
7 | g.150945449G>T | CA458644568 | KCNH2 | n.4229C>A c.3396C>A (p.Pro1132=) c.2376C>A (p.Pro792=) c.3096C>A (p.Pro1032=) c.3246C>A (p.Pro1082=) c.3219C>A (p.Pro1073=) | |
7 | g.150945450G>A | CA369851496 | KCNH2 | n.4228C>T c.3395C>T (p.Pro1132Leu) c.2375C>T (p.Pro792Leu) c.3095C>T (p.Pro1032Leu) c.3245C>T (p.Pro1082Leu) c.3218C>T (p.Pro1073Leu) | gnomAD v4 |
7 | g.150945450G>C | CA369851497 | KCNH2 | n.4228C>G c.3395C>G (p.Pro1132Arg) c.2375C>G (p.Pro792Arg) c.3095C>G (p.Pro1032Arg) c.3245C>G (p.Pro1082Arg) c.3218C>G (p.Pro1073Arg) | gnomAD v4 |
7 | g.150945450G>T | CA369851498 | KCNH2 | n.4228C>A c.3395C>A (p.Pro1132His) c.2375C>A (p.Pro792His) c.3095C>A (p.Pro1032His) c.3245C>A (p.Pro1082His) c.3218C>A (p.Pro1073His) | gnomAD v4 |
7 | g.150945451G>A | CA369851499 | KCNH2 | n.4227C>T c.3394C>T (p.Pro1132Ser) c.2374C>T (p.Pro792Ser) c.3094C>T (p.Pro1032Ser) c.3244C>T (p.Pro1082Ser) c.3217C>T (p.Pro1073Ser) | |
7 | g.150945451G>C | CA008269 | KCNH2 | n.4227C>G c.3394C>G (p.Pro1132Ala) c.2374C>G (p.Pro792Ala) c.3094C>G (p.Pro1032Ala) c.3244C>G (p.Pro1082Ala) c.3217C>G (p.Pro1073Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945451G= | CA1752425713 | KCNH2 | n.4227C= c.3394C= (p.Pro1132=) c.2374C= (p.Pro792=) c.3094C= (p.Pro1032=) c.3244C= (p.Pro1082=) c.3217C= (p.Pro1073=) | |
7 | g.150945451G>T | CA369851500 | KCNH2 | n.4227C>A c.3394C>A (p.Pro1132Thr) c.2374C>A (p.Pro792Thr) c.3094C>A (p.Pro1032Thr) c.3244C>A (p.Pro1082Thr) c.3217C>A (p.Pro1073Thr) | gnomAD v4 |
7 | g.150945452G>A | CA458644570 | KCNH2 | n.4226C>T c.3393C>T (p.Gly1131=) c.2373C>T (p.Gly791=) c.3093C>T (p.Gly1031=) c.3243C>T (p.Gly1081=) c.3216C>T (p.Gly1072=) | ClinVar gnomAD v4 |
7 | g.150945452G>C | CA458644571 | KCNH2 | n.4226C>G c.3393C>G (p.Gly1131=) c.2373C>G (p.Gly791=) c.3093C>G (p.Gly1031=) c.3243C>G (p.Gly1081=) c.3216C>G (p.Gly1072=) | |
7 | g.150945452G>T | CA458644572 | KCNH2 | n.4226C>A c.3393C>A (p.Gly1131=) c.2373C>A (p.Gly791=) c.3093C>A (p.Gly1031=) c.3243C>A (p.Gly1081=) c.3216C>A (p.Gly1072=) | gnomAD v4 |
7 | g.150945453C>A | CA038878 | KCNH2 | n.4225G>T c.3392G>T (p.Gly1131Val) c.2372G>T (p.Gly791Val) c.3092G>T (p.Gly1031Val) c.3242G>T (p.Gly1081Val) c.3215G>T (p.Gly1072Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945453C= | CA1752425722 | KCNH2 | n.4225G= c.3392G= (p.Gly1131=) c.2372G= (p.Gly791=) c.3092G= (p.Gly1031=) c.3242G= (p.Gly1081=) c.3215G= (p.Gly1072=) | |
7 | g.150945453C>G | CA369851501 | KCNH2 | n.4225G>C c.3392G>C (p.Gly1131Ala) c.2372G>C (p.Gly791Ala) c.3092G>C (p.Gly1031Ala) c.3242G>C (p.Gly1081Ala) c.3215G>C (p.Gly1072Ala) | gnomAD v4 |
7 | g.150945453C>T | CA369851502 | KCNH2 | n.4225G>A c.3392G>A (p.Gly1131Asp) c.2372G>A (p.Gly791Asp) c.3092G>A (p.Gly1031Asp) c.3242G>A (p.Gly1081Asp) c.3215G>A (p.Gly1072Asp) | ClinVar gnomAD v4 |
7 | g.150945454C>A | CA369851503 | KCNH2 | n.4224G>T c.3391G>T (p.Gly1131Cys) c.2371G>T (p.Gly791Cys) c.3091G>T (p.Gly1031Cys) c.3241G>T (p.Gly1081Cys) c.3214G>T (p.Gly1072Cys) | |
7 | g.150945454C>G | CA369851504 | KCNH2 | n.4224G>C c.3391G>C (p.Gly1131Arg) c.2371G>C (p.Gly791Arg) c.3091G>C (p.Gly1031Arg) c.3241G>C (p.Gly1081Arg) c.3214G>C (p.Gly1072Arg) | |
7 | g.150945454C>T | CA369851505 | KCNH2 | n.4224G>A c.3391G>A (p.Gly1131Ser) c.2371G>A (p.Gly791Ser) c.3091G>A (p.Gly1031Ser) c.3241G>A (p.Gly1081Ser) c.3214G>A (p.Gly1072Ser) | gnomAD v4 |
7 | g.150945457_150945459del | CA2579062421 | KCNH2 | n.4222_4224del c.3389_3391del (p.Glu1130del) c.2369_2371del (p.Glu790del) c.3089_3091del (p.Glu1030del) c.3239_3241del (p.Glu1080del) c.3212_3214del (p.Glu1071del) | |
7 | g.150945455T>A | CA369851506 | KCNH2 | n.4223A>T c.3390A>T (p.Glu1130Asp) c.2370A>T (p.Glu790Asp) c.3090A>T (p.Glu1030Asp) c.3240A>T (p.Glu1080Asp) c.3213A>T (p.Glu1071Asp) | COSMIC COSMIC |
7 | g.150945455T>C | CA038868 | KCNH2 | n.4223A>G c.3390A>G (p.Glu1130=) c.2370A>G (p.Glu790=) c.3090A>G (p.Glu1030=) c.3240A>G (p.Glu1080=) c.3213A>G (p.Glu1071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945455T>G | CA369851507 | KCNH2 | n.4223A>C c.3390A>C (p.Glu1130Asp) c.2370A>C (p.Glu790Asp) c.3090A>C (p.Glu1030Asp) c.3240A>C (p.Glu1080Asp) c.3213A>C (p.Glu1071Asp) | |
7 | g.150945455T= | CA1752425730 | KCNH2 | n.4223A= c.3390A= (p.Glu1130=) c.2370A= (p.Glu790=) c.3090A= (p.Glu1030=) c.3240A= (p.Glu1080=) c.3213A= (p.Glu1071=) | |
7 | g.150945456T>A | CA369851508 | KCNH2 | n.4222A>T c.3389A>T (p.Glu1130Val) c.2369A>T (p.Glu790Val) c.3089A>T (p.Glu1030Val) c.3239A>T (p.Glu1080Val) c.3212A>T (p.Glu1071Val) | |
7 | g.150945456T>C | CA369851509 | KCNH2 | n.4222A>G c.3389A>G (p.Glu1130Gly) c.2369A>G (p.Glu790Gly) c.3089A>G (p.Glu1030Gly) c.3239A>G (p.Glu1080Gly) c.3212A>G (p.Glu1071Gly) | gnomAD v4 |
7 | g.150945456T>G | CA369851510 | KCNH2 | n.4222A>C c.3389A>C (p.Glu1130Ala) c.2369A>C (p.Glu790Ala) c.3089A>C (p.Glu1030Ala) c.3239A>C (p.Glu1080Ala) c.3212A>C (p.Glu1071Ala) | gnomAD v3 gnomAD v4 |
7 | g.150945457C>A | CA369851513 | KCNH2 | n.4221G>T c.3388G>T (p.Glu1130Ter) c.2368G>T (p.Glu790Ter) c.3088G>T (p.Glu1030Ter) c.3238G>T (p.Glu1080Ter) c.3211G>T (p.Glu1071Ter) | gnomAD v4 |
7 | g.150945457C>G | CA369851511 | KCNH2 | n.4221G>C c.3388G>C (p.Glu1130Gln) c.2368G>C (p.Glu790Gln) c.3088G>C (p.Glu1030Gln) c.3238G>C (p.Glu1080Gln) c.3211G>C (p.Glu1071Gln) | |
7 | g.150945457C>T | CA369851512 | KCNH2 | n.4221G>A c.3388G>A (p.Glu1130Lys) c.2368G>A (p.Glu790Lys) c.3088G>A (p.Glu1030Lys) c.3238G>A (p.Glu1080Lys) c.3211G>A (p.Glu1071Lys) | gnomAD v4 |
7 | g.150945458T>A | CA369851514 | KCNH2 | n.4220A>T c.3387A>T (p.Gln1129His) c.2367A>T (p.Gln789His) c.3087A>T (p.Gln1029His) c.3237A>T (p.Gln1079His) c.3210A>T (p.Gln1070His) | |
7 | g.150945458T>C | CA458644573 | KCNH2 | n.4220A>G c.3387A>G (p.Gln1129=) c.2367A>G (p.Gln789=) c.3087A>G (p.Gln1029=) c.3237A>G (p.Gln1079=) c.3210A>G (p.Gln1070=) | ClinVar gnomAD v4 |
7 | g.150945458T>G | CA369851515 | KCNH2 | n.4220A>C c.3387A>C (p.Gln1129His) c.2367A>C (p.Gln789His) c.3087A>C (p.Gln1029His) c.3237A>C (p.Gln1079His) c.3210A>C (p.Gln1070His) | |
7 | g.150945459T>A | CA369851516 | KCNH2 | n.4219A>T c.3386A>T (p.Gln1129Leu) c.2366A>T (p.Gln789Leu) c.3086A>T (p.Gln1029Leu) c.3236A>T (p.Gln1079Leu) c.3209A>T (p.Gln1070Leu) | gnomAD v3 gnomAD v4 |
7 | g.150945459T>C | CA369851517 | KCNH2 | n.4219A>G c.3386A>G (p.Gln1129Arg) c.2366A>G (p.Gln789Arg) c.3086A>G (p.Gln1029Arg) c.3236A>G (p.Gln1079Arg) c.3209A>G (p.Gln1070Arg) | |
7 | g.150945459T>G | CA369851518 | KCNH2 | n.4219A>C c.3386A>C (p.Gln1129Pro) c.2366A>C (p.Gln789Pro) c.3086A>C (p.Gln1029Pro) c.3236A>C (p.Gln1079Pro) c.3209A>C (p.Gln1070Pro) | |
7 | g.150945459_150945460delinsTG | CA1752425735 | KCNH2 | n.4218_4219delinsCA c.3385_3386delinsCA (p.Gln1129=) c.2365_2366delinsCA (p.Gln789=) c.3085_3086delinsCA (p.Gln1029=) c.3235_3236delinsCA (p.Gln1079=) c.3208_3209delinsCA (p.Gln1070=) | |
7 | g.150945460G>A | CA369851521 | KCNH2 | n.4218C>T c.3385C>T (p.Gln1129Ter) c.2365C>T (p.Gln789Ter) c.3085C>T (p.Gln1029Ter) c.3235C>T (p.Gln1079Ter) c.3208C>T (p.Gln1070Ter) | |
7 | g.150945460G>C | CA369851520 | KCNH2 | n.4218C>G c.3385C>G (p.Gln1129Glu) c.2365C>G (p.Gln789Glu) c.3085C>G (p.Gln1029Glu) c.3235C>G (p.Gln1079Glu) c.3208C>G (p.Gln1070Glu) | ClinVar |
7 | g.150945460G>T | CA369851519 | KCNH2 | n.4218C>A c.3385C>A (p.Gln1129Lys) c.2365C>A (p.Gln789Lys) c.3085C>A (p.Gln1029Lys) c.3235C>A (p.Gln1079Lys) c.3208C>A (p.Gln1070Lys) | gnomAD v4 |
7 | g.150945463del | CA918162840 | KCNH2 | n.4218del c.3385del (p.Gln1129LysfsTer?) c.2365del (p.Gln789LysfsTer?) c.3085del (p.Gln1029LysfsTer?) c.3235del (p.Gln1079LysfsTer?) c.3208del (p.Gln1070LysfsTer?) | dbSNP |
7 | g.150945460_150945461insC | CA1108704340 | KCNH2 | n.4217_4218insG c.3384_3385insG (p.Gln1129AlafsTer?) c.2364_2365insG (p.Gln789AlafsTer?) c.3084_3085insG (p.Gln1029AlafsTer?) c.3234_3235insG (p.Gln1079AlafsTer?) c.3207_3208insG (p.Gln1070AlafsTer?) | gnomAD v3 gnomAD v4 |
7 | g.150945461G>A | CA458644574 | KCNH2 | n.4217C>T c.3384C>T (p.Pro1128=) c.2364C>T (p.Pro788=) c.3084C>T (p.Pro1028=) c.3234C>T (p.Pro1078=) c.3207C>T (p.Pro1069=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945461G>C | CA458644575 | KCNH2 | n.4217C>G c.3384C>G (p.Pro1128=) c.2364C>G (p.Pro788=) c.3084C>G (p.Pro1028=) c.3234C>G (p.Pro1078=) c.3207C>G (p.Pro1069=) | ClinVar |
7 | g.150945461G>T | CA458644576 | KCNH2 | n.4217C>A c.3384C>A (p.Pro1128=) c.2364C>A (p.Pro788=) c.3084C>A (p.Pro1028=) c.3234C>A (p.Pro1078=) c.3207C>A (p.Pro1069=) | gnomAD v4 |
7 | g.150945462G>A | CA369851522 | KCNH2 | n.4216C>T c.3383C>T (p.Pro1128Leu) c.2363C>T (p.Pro788Leu) c.3083C>T (p.Pro1028Leu) c.3233C>T (p.Pro1078Leu) c.3206C>T (p.Pro1069Leu) | |
7 | g.150945462G>C | CA369851523 | KCNH2 | n.4216C>G c.3383C>G (p.Pro1128Arg) c.2363C>G (p.Pro788Arg) c.3083C>G (p.Pro1028Arg) c.3233C>G (p.Pro1078Arg) c.3206C>G (p.Pro1069Arg) | |
7 | g.150945462G>T | CA369851524 | KCNH2 | n.4216C>A c.3383C>A (p.Pro1128His) c.2363C>A (p.Pro788His) c.3083C>A (p.Pro1028His) c.3233C>A (p.Pro1078His) c.3206C>A (p.Pro1069His) | gnomAD v3 gnomAD v4 |
7 | g.150945463G>A | CA369851525 | KCNH2 | n.4215C>T c.3382C>T (p.Pro1128Ser) c.2362C>T (p.Pro788Ser) c.3082C>T (p.Pro1028Ser) c.3232C>T (p.Pro1078Ser) c.3205C>T (p.Pro1069Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945463G>C | CA369851526 | KCNH2 | n.4215C>G c.3382C>G (p.Pro1128Ala) c.2362C>G (p.Pro788Ala) c.3082C>G (p.Pro1028Ala) c.3232C>G (p.Pro1078Ala) c.3205C>G (p.Pro1069Ala) | |
7 | g.150945463G= | CA1752425740 | KCNH2 | n.4215C= c.3382C= (p.Pro1128=) c.2362C= (p.Pro788=) c.3082C= (p.Pro1028=) c.3232C= (p.Pro1078=) c.3205C= (p.Pro1069=) | |
7 | g.150945463G>T | CA369851527 | KCNH2 | n.4215C>A c.3382C>A (p.Pro1128Thr) c.2362C>A (p.Pro788Thr) c.3082C>A (p.Pro1028Thr) c.3232C>A (p.Pro1078Thr) c.3205C>A (p.Pro1069Thr) | |
7 | g.150945464A>C | CA458644578 | KCNH2 | n.4214T>G c.3381T>G (p.Leu1127=) c.2361T>G (p.Leu787=) c.3081T>G (p.Leu1027=) c.3231T>G (p.Leu1077=) c.3204T>G (p.Leu1068=) | |
7 | g.150945464A>G | CA458644577 | KCNH2 | n.4214T>C c.3381T>C (p.Leu1127=) c.2361T>C (p.Leu787=) c.3081T>C (p.Leu1027=) c.3231T>C (p.Leu1077=) c.3204T>C (p.Leu1068=) | gnomAD v4 |
7 | g.150945464A>T | CA458644579 | KCNH2 | n.4214T>A c.3381T>A (p.Leu1127=) c.2361T>A (p.Leu787=) c.3081T>A (p.Leu1027=) c.3231T>A (p.Leu1077=) c.3204T>A (p.Leu1068=) | gnomAD v3 gnomAD v4 |
7 | g.150945465A>C | CA369851528 | KCNH2 | n.4213T>G c.3380T>G (p.Leu1127Arg) c.2360T>G (p.Leu787Arg) c.3080T>G (p.Leu1027Arg) c.3230T>G (p.Leu1077Arg) c.3203T>G (p.Leu1068Arg) | |
7 | g.150945465A>G | CA369851530 | KCNH2 | n.4213T>C c.3380T>C (p.Leu1127Pro) c.2360T>C (p.Leu787Pro) c.3080T>C (p.Leu1027Pro) c.3230T>C (p.Leu1077Pro) c.3203T>C (p.Leu1068Pro) | ClinVar |
7 | g.150945465A>T | CA369851529 | KCNH2 | n.4213T>A c.3380T>A (p.Leu1127His) c.2360T>A (p.Leu787His) c.3080T>A (p.Leu1027His) c.3230T>A (p.Leu1077His) c.3203T>A (p.Leu1068His) | |
7 | g.150945466G>A | CA369851531 | KCNH2 | n.4212C>T c.3379C>T (p.Leu1127Phe) c.2359C>T (p.Leu787Phe) c.3079C>T (p.Leu1027Phe) c.3229C>T (p.Leu1077Phe) c.3202C>T (p.Leu1068Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.150945466G>C | CA369851532 | KCNH2 | n.4212C>G c.3379C>G (p.Leu1127Val) c.2359C>G (p.Leu787Val) c.3079C>G (p.Leu1027Val) c.3229C>G (p.Leu1077Val) c.3202C>G (p.Leu1068Val) | |
7 | g.150945466G= | CA1752425744 | KCNH2 | n.4212C= c.3379C= (p.Leu1127=) c.2359C= (p.Leu787=) c.3079C= (p.Leu1027=) c.3229C= (p.Leu1077=) c.3202C= (p.Leu1068=) | |
7 | g.150945466G>T | CA369851533 | KCNH2 | n.4212C>A c.3379C>A (p.Leu1127Ile) c.2359C>A (p.Leu787Ile) c.3079C>A (p.Leu1027Ile) c.3229C>A (p.Leu1077Ile) c.3202C>A (p.Leu1068Ile) | |
7 | g.150945467C>A | CA369851534 | KCNH2 | n.4211G>T c.3378G>T (p.Glu1126Asp) c.2358G>T (p.Glu786Asp) c.3078G>T (p.Glu1026Asp) c.3228G>T (p.Glu1076Asp) c.3201G>T (p.Glu1067Asp) | gnomAD v3 gnomAD v4 |
7 | g.150945467C>G | CA369851535 | KCNH2 | n.4211G>C c.3378G>C (p.Glu1126Asp) c.2358G>C (p.Glu786Asp) c.3078G>C (p.Glu1026Asp) c.3228G>C (p.Glu1076Asp) c.3201G>C (p.Glu1067Asp) | |
7 | g.150945467C>T | CA458644580 | KCNH2 | n.4211G>A c.3378G>A (p.Glu1126=) c.2358G>A (p.Glu786=) c.3078G>A (p.Glu1026=) c.3228G>A (p.Glu1076=) c.3201G>A (p.Glu1067=) | |
7 | g.150945468T>A | CA369851536 | KCNH2 | n.4210A>T c.3377A>T (p.Glu1126Val) c.2357A>T (p.Glu786Val) c.3077A>T (p.Glu1026Val) c.3227A>T (p.Glu1076Val) c.3200A>T (p.Glu1067Val) | |
7 | g.150945468T>C | CA369851537 | KCNH2 | n.4210A>G c.3377A>G (p.Glu1126Gly) c.2357A>G (p.Glu786Gly) c.3077A>G (p.Glu1026Gly) c.3227A>G (p.Glu1076Gly) c.3200A>G (p.Glu1067Gly) | |
7 | g.150945468T>G | CA369851538 | KCNH2 | n.4210A>C c.3377A>C (p.Glu1126Ala) c.2357A>C (p.Glu786Ala) c.3077A>C (p.Glu1026Ala) c.3227A>C (p.Glu1076Ala) c.3200A>C (p.Glu1067Ala) | |
7 | g.150945469C>A | CA369851539 | KCNH2 | n.4209G>T c.3376G>T (p.Glu1126Ter) c.2356G>T (p.Glu786Ter) c.3076G>T (p.Glu1026Ter) c.3226G>T (p.Glu1076Ter) c.3199G>T (p.Glu1067Ter) | |
7 | g.150945469C= | CA1752425747 | KCNH2 | n.4209G= c.3376G= (p.Glu1126=) c.2356G= (p.Glu786=) c.3076G= (p.Glu1026=) c.3226G= (p.Glu1076=) c.3199G= (p.Glu1067=) | |
7 | g.150945469C>G | CA369851540 | KCNH2 | n.4209G>C c.3376G>C (p.Glu1126Gln) c.2356G>C (p.Glu786Gln) c.3076G>C (p.Glu1026Gln) c.3226G>C (p.Glu1076Gln) c.3199G>C (p.Glu1067Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945469C>T | CA369851541 | KCNH2 | n.4209G>A c.3376G>A (p.Glu1126Lys) c.2356G>A (p.Glu786Lys) c.3076G>A (p.Glu1026Lys) c.3226G>A (p.Glu1076Lys) c.3199G>A (p.Glu1067Lys) | |
7 | g.150945469dup | CA2695208686 | KCNH2 | n.4209dup c.3376dup (p.Glu1126GlyfsTer?) c.2356dup (p.Glu786GlyfsTer?) c.3076dup (p.Glu1026GlyfsTer?) c.3226dup (p.Glu1076GlyfsTer?) c.3199dup (p.Glu1067GlyfsTer?) | |
7 | g.150945470T>A | CA458644581 | KCNH2 | n.4208A>T c.3375A>T (p.Pro1125=) c.2355A>T (p.Pro785=) c.3075A>T (p.Pro1025=) c.3225A>T (p.Pro1075=) c.3198A>T (p.Pro1066=) | |
7 | g.150945470T>C | CA458644582 | KCNH2 | n.4208A>G c.3375A>G (p.Pro1125=) c.2355A>G (p.Pro785=) c.3075A>G (p.Pro1025=) c.3225A>G (p.Pro1075=) c.3198A>G (p.Pro1066=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945470T>G | CA458644583 | KCNH2 | n.4208A>C c.3375A>C (p.Pro1125=) c.2355A>C (p.Pro785=) c.3075A>C (p.Pro1025=) c.3225A>C (p.Pro1075=) c.3198A>C (p.Pro1066=) | |
7 | g.150945470T= | CA1752425750 | KCNH2 | n.4208A= c.3375A= (p.Pro1125=) c.2355A= (p.Pro785=) c.3075A= (p.Pro1025=) c.3225A= (p.Pro1075=) c.3198A= (p.Pro1066=) | |
7 | g.150945471G>A | CA369851542 | KCNH2 | n.4207C>T c.3374C>T (p.Pro1125Leu) c.2354C>T (p.Pro785Leu) c.3074C>T (p.Pro1025Leu) c.3224C>T (p.Pro1075Leu) c.3197C>T (p.Pro1066Leu) | ClinVar gnomAD v4 |
7 | g.150945471G>C | CA369851544 | KCNH2 | n.4207C>G c.3374C>G (p.Pro1125Arg) c.2354C>G (p.Pro785Arg) c.3074C>G (p.Pro1025Arg) c.3224C>G (p.Pro1075Arg) c.3197C>G (p.Pro1066Arg) | gnomAD v4 |
7 | g.150945471G>T | CA369851543 | KCNH2 | n.4207C>A c.3374C>A (p.Pro1125Gln) c.2354C>A (p.Pro785Gln) c.3074C>A (p.Pro1025Gln) c.3224C>A (p.Pro1075Gln) c.3197C>A (p.Pro1066Gln) | |
7 | g.150945474del | CA2685600154 | KCNH2 | n.4207del c.3374del (p.Pro1125GlnfsTer?) c.2354del (p.Pro785GlnfsTer?) c.3074del (p.Pro1025GlnfsTer?) c.3224del (p.Pro1075GlnfsTer?) c.3197del (p.Pro1066GlnfsTer?) | gnomAD v4 |
7 | g.150945471_150945478del | CA1108704343 | KCNH2 | n.4200_4207del c.3367_3374del (p.Gly1123ArgfsTer?) c.2347_2354del (p.Gly783ArgfsTer?) c.3067_3074del (p.Gly1023ArgfsTer?) c.3217_3224del (p.Gly1073ArgfsTer?) c.3190_3197del (p.Gly1064ArgfsTer?) | gnomAD v3 gnomAD v4 |
7 | g.150945472G>A | CA369851545 | KCNH2 | n.4206C>T c.3373C>T (p.Pro1125Ser) c.2353C>T (p.Pro785Ser) c.3073C>T (p.Pro1025Ser) c.3223C>T (p.Pro1075Ser) c.3196C>T (p.Pro1066Ser) | gnomAD v4 |
7 | g.150945472G>C | CA369851547 | KCNH2 | n.4206C>G c.3373C>G (p.Pro1125Ala) c.2353C>G (p.Pro785Ala) c.3073C>G (p.Pro1025Ala) c.3223C>G (p.Pro1075Ala) c.3196C>G (p.Pro1066Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945472G= | CA1752425756 | KCNH2 | n.4206C= c.3373C= (p.Pro1125=) c.2353C= (p.Pro785=) c.3073C= (p.Pro1025=) c.3223C= (p.Pro1075=) c.3196C= (p.Pro1066=) | |
7 | g.150945472G>T | CA369851546 | KCNH2 | n.4206C>A c.3373C>A (p.Pro1125Thr) c.2353C>A (p.Pro785Thr) c.3073C>A (p.Pro1025Thr) c.3223C>A (p.Pro1075Thr) c.3196C>A (p.Pro1066Thr) | |
7 | g.150945473G>A | CA458644584 | KCNH2 | n.4205C>T c.3372C>T (p.Ala1124=) c.2352C>T (p.Ala784=) c.3072C>T (p.Ala1024=) c.3222C>T (p.Ala1074=) c.3195C>T (p.Ala1065=) | gnomAD v4 |
7 | g.150945473G>C | CA458644585 | KCNH2 | n.4205C>G c.3372C>G (p.Ala1124=) c.2352C>G (p.Ala784=) c.3072C>G (p.Ala1024=) c.3222C>G (p.Ala1074=) c.3195C>G (p.Ala1065=) | |
7 | g.150945473G>T | CA458644586 | KCNH2 | n.4205C>A c.3372C>A (p.Ala1124=) c.2352C>A (p.Ala784=) c.3072C>A (p.Ala1024=) c.3222C>A (p.Ala1074=) c.3195C>A (p.Ala1065=) | |
7 | g.150945474G>A | CA369851548 | KCNH2 | n.4204C>T c.3371C>T (p.Ala1124Val) c.2351C>T (p.Ala784Val) c.3071C>T (p.Ala1024Val) c.3221C>T (p.Ala1074Val) c.3194C>T (p.Ala1065Val) | gnomAD v4 COSMIC COSMIC |
7 | g.150945474G>C | CA369851549 | KCNH2 | n.4204C>G c.3371C>G (p.Ala1124Gly) c.2351C>G (p.Ala784Gly) c.3071C>G (p.Ala1024Gly) c.3221C>G (p.Ala1074Gly) c.3194C>G (p.Ala1065Gly) | |
7 | g.150945474G>T | CA369851550 | KCNH2 | n.4204C>A c.3371C>A (p.Ala1124Asp) c.2351C>A (p.Ala784Asp) c.3071C>A (p.Ala1024Asp) c.3221C>A (p.Ala1074Asp) c.3194C>A (p.Ala1065Asp) | gnomAD v4 |
7 | g.150945475C>A | CA369851551 | KCNH2 | n.4203G>T c.3370G>T (p.Ala1124Ser) c.2350G>T (p.Ala784Ser) c.3070G>T (p.Ala1024Ser) c.3220G>T (p.Ala1074Ser) c.3193G>T (p.Ala1065Ser) | gnomAD v4 |
7 | g.150945475C>G | CA369851552 | KCNH2 | n.4203G>C c.3370G>C (p.Ala1124Pro) c.2350G>C (p.Ala784Pro) c.3070G>C (p.Ala1024Pro) c.3220G>C (p.Ala1074Pro) c.3193G>C (p.Ala1065Pro) | |
7 | g.150945475C>T | CA369851553 | KCNH2 | n.4203G>A c.3370G>A (p.Ala1124Thr) c.2350G>A (p.Ala784Thr) c.3070G>A (p.Ala1024Thr) c.3220G>A (p.Ala1074Thr) c.3193G>A (p.Ala1065Thr) | gnomAD v4 |
7 | g.150945479dup | CA578700830 | KCNH2 | n.4203dup c.3370dup (p.Ala1124GlyfsTer?) c.2350dup (p.Ala784GlyfsTer?) c.3070dup (p.Ala1024GlyfsTer?) c.3220dup (p.Ala1074GlyfsTer?) c.3193dup (p.Ala1065GlyfsTer?) | ClinVar gnomAD v2 |
7 | g.150945479del | CA578700828 | KCNH2 | n.4203del c.3370del (p.Ala1124ProfsTer?) c.2350del (p.Ala784ProfsTer?) c.3070del (p.Ala1024ProfsTer?) c.3220del (p.Ala1074ProfsTer?) c.3193del (p.Ala1065ProfsTer?) | gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150945476C>A | CA458644587 | KCNH2 | n.4202G>T c.3369G>T (p.Gly1123=) c.2349G>T (p.Gly783=) c.3069G>T (p.Gly1023=) c.3219G>T (p.Gly1073=) c.3192G>T (p.Gly1064=) | |
7 | g.150945476C= | CA1752425758 | KCNH2 | n.4202G= c.3369G= (p.Gly1123=) c.2349G= (p.Gly783=) c.3069G= (p.Gly1023=) c.3219G= (p.Gly1073=) c.3192G= (p.Gly1064=) | |
7 | g.150945476C>G | CA458644588 | KCNH2 | n.4202G>C c.3369G>C (p.Gly1123=) c.2349G>C (p.Gly783=) c.3069G>C (p.Gly1023=) c.3219G>C (p.Gly1073=) c.3192G>C (p.Gly1064=) | |
7 | g.150945476C>T | CA458644589 | KCNH2 | n.4202G>A c.3369G>A (p.Gly1123=) c.2349G>A (p.Gly783=) c.3069G>A (p.Gly1023=) c.3219G>A (p.Gly1073=) c.3192G>A (p.Gly1064=) | dbSNP gnomAD v4 |
7 | g.150945477C>A | CA369851554 | KCNH2 | n.4201G>T c.3368G>T (p.Gly1123Val) c.2348G>T (p.Gly783Val) c.3068G>T (p.Gly1023Val) c.3218G>T (p.Gly1073Val) c.3191G>T (p.Gly1064Val) | gnomAD v4 |
7 | g.150945477C= | CA1752425761 | KCNH2 | n.4201G= c.3368G= (p.Gly1123=) c.2348G= (p.Gly783=) c.3068G= (p.Gly1023=) c.3218G= (p.Gly1073=) c.3191G= (p.Gly1064=) | |
7 | g.150945477C>G | CA369851555 | KCNH2 | n.4201G>C c.3368G>C (p.Gly1123Ala) c.2348G>C (p.Gly783Ala) c.3068G>C (p.Gly1023Ala) c.3218G>C (p.Gly1073Ala) c.3191G>C (p.Gly1064Ala) | ClinVar gnomAD v4 |
7 | g.150945477C>T | CA369851556 | KCNH2 | n.4201G>A c.3368G>A (p.Gly1123Glu) c.2348G>A (p.Gly783Glu) c.3068G>A (p.Gly1023Glu) c.3218G>A (p.Gly1073Glu) c.3191G>A (p.Gly1064Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.150945478C>A | CA369851557 | KCNH2 | n.4200G>T c.3367G>T (p.Gly1123Trp) c.2347G>T (p.Gly783Trp) c.3067G>T (p.Gly1023Trp) c.3217G>T (p.Gly1073Trp) c.3190G>T (p.Gly1064Trp) | gnomAD v4 |
7 | g.150945478C= | CA1752425765 | KCNH2 | n.4200G= c.3367G= (p.Gly1123=) c.2347G= (p.Gly783=) c.3067G= (p.Gly1023=) c.3217G= (p.Gly1073=) c.3190G= (p.Gly1064=) | |
7 | g.150945478C>G | CA369851558 | KCNH2 | n.4200G>C c.3367G>C (p.Gly1123Arg) c.2347G>C (p.Gly783Arg) c.3067G>C (p.Gly1023Arg) c.3217G>C (p.Gly1073Arg) c.3190G>C (p.Gly1064Arg) | dbSNP gnomAD v4 |
7 | g.150945478C>T | CA038859 | KCNH2 | n.4200G>A c.3367G>A (p.Gly1123Arg) c.2347G>A (p.Gly783Arg) c.3067G>A (p.Gly1023Arg) c.3217G>A (p.Gly1073Arg) c.3190G>A (p.Gly1064Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945479C>A | CA458644591 | KCNH2 | n.4199G>T c.3366G>T (p.Pro1122=) c.2346G>T (p.Pro782=) c.3066G>T (p.Pro1022=) c.3216G>T (p.Pro1072=) c.3189G>T (p.Pro1063=) | gnomAD v4 |
7 | g.150945479C= | CA1752425770 | KCNH2 | n.4199G= c.3366G= (p.Pro1122=) c.2346G= (p.Pro782=) c.3066G= (p.Pro1022=) c.3216G= (p.Pro1072=) c.3189G= (p.Pro1063=) | |
7 | g.150945479C>G | CA458644590 | KCNH2 | n.4199G>C c.3366G>C (p.Pro1122=) c.2346G>C (p.Pro782=) c.3066G>C (p.Pro1022=) c.3216G>C (p.Pro1072=) c.3189G>C (p.Pro1063=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945479C>T | CA038846 | KCNH2 | n.4199G>A c.3366G>A (p.Pro1122=) c.2346G>A (p.Pro782=) c.3066G>A (p.Pro1022=) c.3216G>A (p.Pro1072=) c.3189G>A (p.Pro1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945479_150945480insA | CA2740901540 | KCNH2 | n.4198_4199insT c.3365_3366insT (p.Ala1124GlyfsTer?) c.2345_2346insT (p.Ala784GlyfsTer?) c.3065_3066insT (p.Ala1024GlyfsTer?) c.3215_3216insT (p.Ala1074GlyfsTer?) c.3188_3189insT (p.Ala1065GlyfsTer?) | |
7 | g.150945480G>A | CA008263 | KCNH2 | n.4198C>T c.3365C>T (p.Pro1122Leu) c.2345C>T (p.Pro782Leu) c.3065C>T (p.Pro1022Leu) c.3215C>T (p.Pro1072Leu) c.3188C>T (p.Pro1063Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945480G>C | CA10581149 | KCNH2 | n.4198C>G c.3365C>G (p.Pro1122Arg) c.2345C>G (p.Pro782Arg) c.3065C>G (p.Pro1022Arg) c.3215C>G (p.Pro1072Arg) c.3188C>G (p.Pro1063Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945480G= | CA1752425782 | KCNH2 | n.4198C= c.3365C= (p.Pro1122=) c.2345C= (p.Pro782=) c.3065C= (p.Pro1022=) c.3215C= (p.Pro1072=) c.3188C= (p.Pro1063=) | |
7 | g.150945480G>T | CA369851559 | KCNH2 | n.4198C>A c.3365C>A (p.Pro1122Gln) c.2345C>A (p.Pro782Gln) c.3065C>A (p.Pro1022Gln) c.3215C>A (p.Pro1072Gln) c.3188C>A (p.Pro1063Gln) | |
7 | g.150945484dup | CA1139660326 | KCNH2 | n.4198dup c.3365dup (p.Ala1124GlyfsTer?) c.2345dup (p.Ala784GlyfsTer?) c.3065dup (p.Ala1024GlyfsTer?) c.3215dup (p.Ala1074GlyfsTer?) c.3188dup (p.Ala1065GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150945484del | CA2579062422 | KCNH2 | n.4198del c.3365del (p.Pro1122ArgfsTer?) c.2345del (p.Pro782ArgfsTer?) c.3065del (p.Pro1022ArgfsTer?) c.3215del (p.Pro1072ArgfsTer?) c.3188del (p.Pro1063ArgfsTer?) | gnomAD v4 |
7 | g.150945481G>A | CA369851560 | KCNH2 | n.4197C>T c.3364C>T (p.Pro1122Ser) c.2344C>T (p.Pro782Ser) c.3064C>T (p.Pro1022Ser) c.3214C>T (p.Pro1072Ser) c.3187C>T (p.Pro1063Ser) | |
7 | g.150945481G>C | CA369851561 | KCNH2 | n.4197C>G c.3364C>G (p.Pro1122Ala) c.2344C>G (p.Pro782Ala) c.3064C>G (p.Pro1022Ala) c.3214C>G (p.Pro1072Ala) c.3187C>G (p.Pro1063Ala) | |
7 | g.150945481G>T | CA369851562 | KCNH2 | n.4197C>A c.3364C>A (p.Pro1122Thr) c.2344C>A (p.Pro782Thr) c.3064C>A (p.Pro1022Thr) c.3214C>A (p.Pro1072Thr) c.3187C>A (p.Pro1063Thr) | gnomAD v4 |
7 | g.150945482G>A | CA458644592 | KCNH2 | n.4196C>T c.3363C>T (p.Pro1121=) c.2343C>T (p.Pro781=) c.3063C>T (p.Pro1021=) c.3213C>T (p.Pro1071=) c.3186C>T (p.Pro1062=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945482G>C | CA458644593 | KCNH2 | n.4196C>G c.3363C>G (p.Pro1121=) c.2343C>G (p.Pro781=) c.3063C>G (p.Pro1021=) c.3213C>G (p.Pro1071=) c.3186C>G (p.Pro1062=) | |
7 | g.150945482G= | CA1752425790 | KCNH2 | n.4196C= c.3363C= (p.Pro1121=) c.2343C= (p.Pro781=) c.3063C= (p.Pro1021=) c.3213C= (p.Pro1071=) c.3186C= (p.Pro1062=) | |
7 | g.150945482G>T | CA458644594 | KCNH2 | n.4196C>A c.3363C>A (p.Pro1121=) c.2343C>A (p.Pro781=) c.3063C>A (p.Pro1021=) c.3213C>A (p.Pro1071=) c.3186C>A (p.Pro1062=) | gnomAD v3 gnomAD v4 |
7 | g.150945483G>A | CA369851563 | KCNH2 | n.4195C>T c.3362C>T (p.Pro1121Leu) c.2342C>T (p.Pro781Leu) c.3062C>T (p.Pro1021Leu) c.3212C>T (p.Pro1071Leu) c.3185C>T (p.Pro1062Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150945483G>C | CA369851564 | KCNH2 | n.4195C>G c.3362C>G (p.Pro1121Arg) c.2342C>G (p.Pro781Arg) c.3062C>G (p.Pro1021Arg) c.3212C>G (p.Pro1071Arg) c.3185C>G (p.Pro1062Arg) | |
7 | g.150945483G= | CA1752425792 | KCNH2 | n.4195C= c.3362C= (p.Pro1121=) c.2342C= (p.Pro781=) c.3062C= (p.Pro1021=) c.3212C= (p.Pro1071=) c.3185C= (p.Pro1062=) | |
7 | g.150945483G>T | CA369851565 | KCNH2 | n.4195C>A c.3362C>A (p.Pro1121His) c.2342C>A (p.Pro781His) c.3062C>A (p.Pro1021His) c.3212C>A (p.Pro1071His) c.3185C>A (p.Pro1062His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945484G>A | CA369851566 | KCNH2 | n.4194C>T c.3361C>T (p.Pro1121Ser) c.2341C>T (p.Pro781Ser) c.3061C>T (p.Pro1021Ser) c.3211C>T (p.Pro1071Ser) c.3184C>T (p.Pro1062Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150945484G>C | CA369851567 | KCNH2 | n.4194C>G c.3361C>G (p.Pro1121Ala) c.2341C>G (p.Pro781Ala) c.3061C>G (p.Pro1021Ala) c.3211C>G (p.Pro1071Ala) c.3184C>G (p.Pro1062Ala) | |
7 | g.150945484G= | CA1752425796 | KCNH2 | n.4194C= c.3361C= (p.Pro1121=) c.2341C= (p.Pro781=) c.3061C= (p.Pro1021=) c.3211C= (p.Pro1071=) c.3184C= (p.Pro1062=) | |
7 | g.150945484G>T | CA369851568 | KCNH2 | n.4194C>A c.3361C>A (p.Pro1121Thr) c.2341C>A (p.Pro781Thr) c.3061C>A (p.Pro1021Thr) c.3211C>A (p.Pro1071Thr) c.3184C>A (p.Pro1062Thr) | gnomAD v4 |
7 | g.150945485C>A | CA458644595 | KCNH2 | n.4193G>T c.3360G>T (p.Leu1120=) c.2340G>T (p.Leu780=) c.3060G>T (p.Leu1020=) c.3210G>T (p.Leu1070=) c.3183G>T (p.Leu1061=) | gnomAD v4 |
7 | g.150945485C= | CA1752425799 | KCNH2 | n.4193G= c.3360G= (p.Leu1120=) c.2340G= (p.Leu780=) c.3060G= (p.Leu1020=) c.3210G= (p.Leu1070=) c.3183G= (p.Leu1061=) | |
7 | g.150945485C>G | CA038821 | KCNH2 | n.4193G>C c.3360G>C (p.Leu1120=) c.2340G>C (p.Leu780=) c.3060G>C (p.Leu1020=) c.3210G>C (p.Leu1070=) c.3183G>C (p.Leu1061=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945485C>T | CA458644596 | KCNH2 | n.4193G>A c.3360G>A (p.Leu1120=) c.2340G>A (p.Leu780=) c.3060G>A (p.Leu1020=) c.3210G>A (p.Leu1070=) c.3183G>A (p.Leu1061=) | gnomAD v3 gnomAD v4 |
7 | g.150945485_150945488del | CA1108704346 | KCNH2 | n.4190_4193del c.3357_3360del (p.Glu1119AspfsTer?) c.2337_2340del (p.Glu779AspfsTer?) c.3057_3060del (p.Glu1019AspfsTer?) c.3207_3210del (p.Glu1069AspfsTer?) c.3180_3183del (p.Glu1060AspfsTer?) | gnomAD v3 gnomAD v4 |
7 | g.150945486A>C | CA369851569 | KCNH2 | n.4192T>G c.3359T>G (p.Leu1120Arg) c.2339T>G (p.Leu780Arg) c.3059T>G (p.Leu1020Arg) c.3209T>G (p.Leu1070Arg) c.3182T>G (p.Leu1061Arg) | |
7 | g.150945486A>G | CA369851571 | KCNH2 | n.4192T>C c.3359T>C (p.Leu1120Pro) c.2339T>C (p.Leu780Pro) c.3059T>C (p.Leu1020Pro) c.3209T>C (p.Leu1070Pro) c.3182T>C (p.Leu1061Pro) | gnomAD v4 |
7 | g.150945486A>T | CA369851570 | KCNH2 | n.4192T>A c.3359T>A (p.Leu1120Gln) c.2339T>A (p.Leu780Gln) c.3059T>A (p.Leu1020Gln) c.3209T>A (p.Leu1070Gln) c.3182T>A (p.Leu1061Gln) | |
7 | g.150945487G>A | CA458644597 | KCNH2 | n.4191C>T c.3358C>T (p.Leu1120=) c.2338C>T (p.Leu780=) c.3058C>T (p.Leu1020=) c.3208C>T (p.Leu1070=) c.3181C>T (p.Leu1061=) | |
7 | g.150945487G>C | CA369851572 | KCNH2 | n.4191C>G c.3358C>G (p.Leu1120Val) c.2338C>G (p.Leu780Val) c.3058C>G (p.Leu1020Val) c.3208C>G (p.Leu1070Val) c.3181C>G (p.Leu1061Val) | ClinVar dbSNP gnomAD v4 |
7 | g.150945487G= | CA1752425803 | KCNH2 | n.4191C= c.3358C= (p.Leu1120=) c.2338C= (p.Leu780=) c.3058C= (p.Leu1020=) c.3208C= (p.Leu1070=) c.3181C= (p.Leu1061=) | |
7 | g.150945487G>T | CA369851573 | KCNH2 | n.4191C>A c.3358C>A (p.Leu1120Met) c.2338C>A (p.Leu780Met) c.3058C>A (p.Leu1020Met) c.3208C>A (p.Leu1070Met) c.3181C>A (p.Leu1061Met) | |
7 | g.150945488C>A | CA369851574 | KCNH2 | n.4190G>T c.3357G>T (p.Glu1119Asp) c.2337G>T (p.Glu779Asp) c.3057G>T (p.Glu1019Asp) c.3207G>T (p.Glu1069Asp) c.3180G>T (p.Glu1060Asp) | gnomAD v4 |
7 | g.150945488C= | CA1752425809 | KCNH2 | n.4190G= c.3357G= (p.Glu1119=) c.2337G= (p.Glu779=) c.3057G= (p.Glu1019=) c.3207G= (p.Glu1069=) c.3180G= (p.Glu1060=) | |
7 | g.150945488C>G | CA369851575 | KCNH2 | n.4190G>C c.3357G>C (p.Glu1119Asp) c.2337G>C (p.Glu779Asp) c.3057G>C (p.Glu1019Asp) c.3207G>C (p.Glu1069Asp) c.3180G>C (p.Glu1060Asp) | ClinVar |
7 | g.150945488C>T | CA458644598 | KCNH2 | n.4190G>A c.3357G>A (p.Glu1119=) c.2337G>A (p.Glu779=) c.3057G>A (p.Glu1019=) c.3207G>A (p.Glu1069=) c.3180G>A (p.Glu1060=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945489T>A | CA369851576 | KCNH2 | n.4189A>T c.3356A>T (p.Glu1119Val) c.2336A>T (p.Glu779Val) c.3056A>T (p.Glu1019Val) c.3206A>T (p.Glu1069Val) c.3179A>T (p.Glu1060Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945489T>C | CA369851577 | KCNH2 | n.4189A>G c.3356A>G (p.Glu1119Gly) c.2336A>G (p.Glu779Gly) c.3056A>G (p.Glu1019Gly) c.3206A>G (p.Glu1069Gly) c.3179A>G (p.Glu1060Gly) | |
7 | g.150945489T>G | CA369851578 | KCNH2 | n.4189A>C c.3356A>C (p.Glu1119Ala) c.2336A>C (p.Glu779Ala) c.3056A>C (p.Glu1019Ala) c.3206A>C (p.Glu1069Ala) c.3179A>C (p.Glu1060Ala) | |
7 | g.150945489T= | CA1752425811 | KCNH2 | n.4189A= c.3356A= (p.Glu1119=) c.2336A= (p.Glu779=) c.3056A= (p.Glu1019=) c.3206A= (p.Glu1069=) c.3179A= (p.Glu1060=) | |
7 | g.150945490C>A | CA369851579 | KCNH2 | n.4188G>T c.3355G>T (p.Glu1119Ter) c.2335G>T (p.Glu779Ter) c.3055G>T (p.Glu1019Ter) c.3205G>T (p.Glu1069Ter) c.3178G>T (p.Glu1060Ter) | gnomAD v4 |
7 | g.150945490C= | CA1752425814 | KCNH2 | n.4188G= c.3355G= (p.Glu1119=) c.2335G= (p.Glu779=) c.3055G= (p.Glu1019=) c.3205G= (p.Glu1069=) c.3178G= (p.Glu1060=) | |
7 | g.150945490C>G | CA008253 | KCNH2 | n.4188G>C c.3355G>C (p.Glu1119Gln) c.2335G>C (p.Glu779Gln) c.3055G>C (p.Glu1019Gln) c.3205G>C (p.Glu1069Gln) c.3178G>C (p.Glu1060Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945490C>T | CA369851580 | KCNH2 | n.4188G>A c.3355G>A (p.Glu1119Lys) c.2335G>A (p.Glu779Lys) c.3055G>A (p.Glu1019Lys) c.3205G>A (p.Glu1069Lys) c.3178G>A (p.Glu1060Lys) | gnomAD v4 |
7 | g.150945491_150945497del | CA1108704347 | KCNH2 | n.4182_4188del c.3349_3355del (p.Cys1117SerfsTer?) c.2329_2335del (p.Cys777SerfsTer?) c.3049_3055del (p.Cys1017SerfsTer?) c.3199_3205del (p.Cys1067SerfsTer?) c.3172_3178del (p.Cys1058SerfsTer?) | gnomAD v3 gnomAD v4 |
7 | g.150945491C>A | CA369851581 | KCNH2 | n.4187G>T c.3354G>T (p.Glu1118Asp) c.2334G>T (p.Glu778Asp) c.3054G>T (p.Glu1018Asp) c.3204G>T (p.Glu1068Asp) c.3177G>T (p.Glu1059Asp) | gnomAD v4 |
7 | g.150945491C>G | CA369851582 | KCNH2 | n.4187G>C c.3354G>C (p.Glu1118Asp) c.2334G>C (p.Glu778Asp) c.3054G>C (p.Glu1018Asp) c.3204G>C (p.Glu1068Asp) c.3177G>C (p.Glu1059Asp) | gnomAD v4 |
7 | g.150945491C>T | CA458644599 | KCNH2 | n.4187G>A c.3354G>A (p.Glu1118=) c.2334G>A (p.Glu778=) c.3054G>A (p.Glu1018=) c.3204G>A (p.Glu1068=) c.3177G>A (p.Glu1059=) | |
7 | g.150945492T>A | CA369851585 | KCNH2 | n.4186A>T c.3353A>T (p.Glu1118Val) c.2333A>T (p.Glu778Val) c.3053A>T (p.Glu1018Val) c.3203A>T (p.Glu1068Val) c.3176A>T (p.Glu1059Val) | gnomAD v4 |
7 | g.150945492T>C | CA369851583 | KCNH2 | n.4186A>G c.3353A>G (p.Glu1118Gly) c.2333A>G (p.Glu778Gly) c.3053A>G (p.Glu1018Gly) c.3203A>G (p.Glu1068Gly) c.3176A>G (p.Glu1059Gly) | gnomAD v4 |
7 | g.150945492T>G | CA369851584 | KCNH2 | n.4186A>C c.3353A>C (p.Glu1118Ala) c.2333A>C (p.Glu778Ala) c.3053A>C (p.Glu1018Ala) c.3203A>C (p.Glu1068Ala) c.3176A>C (p.Glu1059Ala) | |
7 | g.150945493C>A | CA369851586 | KCNH2 | n.4185G>T c.3352G>T (p.Glu1118Ter) c.2332G>T (p.Glu778Ter) c.3052G>T (p.Glu1018Ter) c.3202G>T (p.Glu1068Ter) c.3175G>T (p.Glu1059Ter) | gnomAD v4 |
7 | g.150945493C= | CA1752425822 | KCNH2 | n.4185G= c.3352G= (p.Glu1118=) c.2332G= (p.Glu778=) c.3052G= (p.Glu1018=) c.3202G= (p.Glu1068=) c.3175G= (p.Glu1059=) | |
7 | g.150945493C>G | CA369851587 | KCNH2 | n.4185G>C c.3352G>C (p.Glu1118Gln) c.2332G>C (p.Glu778Gln) c.3052G>C (p.Glu1018Gln) c.3202G>C (p.Glu1068Gln) c.3175G>C (p.Glu1059Gln) | |
7 | g.150945493C>T | CA369851588 | KCNH2 | n.4185G>A c.3352G>A (p.Glu1118Lys) c.2332G>A (p.Glu778Lys) c.3052G>A (p.Glu1018Lys) c.3202G>A (p.Glu1068Lys) c.3175G>A (p.Glu1059Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945494A>C | CA369851589 | KCNH2 | n.4184T>G c.3351T>G (p.Cys1117Trp) c.2331T>G (p.Cys777Trp) c.3051T>G (p.Cys1017Trp) c.3201T>G (p.Cys1067Trp) c.3174T>G (p.Cys1058Trp) | gnomAD v4 |
7 | g.150945494A>G | CA458644600 | KCNH2 | n.4184T>C c.3351T>C (p.Cys1117=) c.2331T>C (p.Cys777=) c.3051T>C (p.Cys1017=) c.3201T>C (p.Cys1067=) c.3174T>C (p.Cys1058=) | ClinVar gnomAD v4 |
7 | g.150945494A>T | CA369851590 | KCNH2 | n.4184T>A c.3351T>A (p.Cys1117Ter) c.2331T>A (p.Cys777Ter) c.3051T>A (p.Cys1017Ter) c.3201T>A (p.Cys1067Ter) c.3174T>A (p.Cys1058Ter) | |
7 | g.150945495C>A | CA369851591 | KCNH2 | n.4183G>T c.3350G>T (p.Cys1117Phe) c.2330G>T (p.Cys777Phe) c.3050G>T (p.Cys1017Phe) c.3200G>T (p.Cys1067Phe) c.3173G>T (p.Cys1058Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.150945495C= | CA1752425829 | KCNH2 | n.4183G= c.3350G= (p.Cys1117=) c.2330G= (p.Cys777=) c.3050G= (p.Cys1017=) c.3200G= (p.Cys1067=) c.3173G= (p.Cys1058=) | |
7 | g.150945495C>G | CA369851592 | KCNH2 | n.4183G>C c.3350G>C (p.Cys1117Ser) c.2330G>C (p.Cys777Ser) c.3050G>C (p.Cys1017Ser) c.3200G>C (p.Cys1067Ser) c.3173G>C (p.Cys1058Ser) | |
7 | g.150945495C>T | CA008248 | KCNH2 | n.4183G>A c.3350G>A (p.Cys1117Tyr) c.2330G>A (p.Cys777Tyr) c.3050G>A (p.Cys1017Tyr) c.3200G>A (p.Cys1067Tyr) c.3173G>A (p.Cys1058Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945496A= | CA1752425836 | KCNH2 | n.4182T= c.3349T= (p.Cys1117=) c.2329T= (p.Cys777=) c.3049T= (p.Cys1017=) c.3199T= (p.Cys1067=) c.3172T= (p.Cys1058=) | |
7 | g.150945496A>C | CA369851593 | KCNH2 | n.4182T>G c.3349T>G (p.Cys1117Gly) c.2329T>G (p.Cys777Gly) c.3049T>G (p.Cys1017Gly) c.3199T>G (p.Cys1067Gly) c.3172T>G (p.Cys1058Gly) | |
7 | g.150945496A>G | CA369851594 | KCNH2 | n.4182T>C c.3349T>C (p.Cys1117Arg) c.2329T>C (p.Cys777Arg) c.3049T>C (p.Cys1017Arg) c.3199T>C (p.Cys1067Arg) c.3172T>C (p.Cys1058Arg) | gnomAD v4 |
7 | g.150945496A>T | CA369851595 | KCNH2 | n.4182T>A c.3349T>A (p.Cys1117Ser) c.2329T>A (p.Cys777Ser) c.3049T>A (p.Cys1017Ser) c.3199T>A (p.Cys1067Ser) c.3172T>A (p.Cys1058Ser) | dbSNP |
7 | g.150945497C>A | CA038779 | KCNH2 | n.4181G>T c.3348G>T (p.Ala1116=) c.2328G>T (p.Ala776=) c.3048G>T (p.Ala1016=) c.3198G>T (p.Ala1066=) c.3171G>T (p.Ala1057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945497C= | CA1752425837 | KCNH2 | n.4181G= c.3348G= (p.Ala1116=) c.2328G= (p.Ala776=) c.3048G= (p.Ala1016=) c.3198G= (p.Ala1066=) c.3171G= (p.Ala1057=) | |
7 | g.150945497C>G | CA458644601 | KCNH2 | n.4181G>C c.3348G>C (p.Ala1116=) c.2328G>C (p.Ala776=) c.3048G>C (p.Ala1016=) c.3198G>C (p.Ala1066=) c.3171G>C (p.Ala1057=) | gnomAD v4 |
7 | g.150945497C>T | CA008241 | KCNH2 | n.4181G>A c.3348G>A (p.Ala1116=) c.2328G>A (p.Ala776=) c.3048G>A (p.Ala1016=) c.3198G>A (p.Ala1066=) c.3171G>A (p.Ala1057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945498G>A | CA008234 | KCNH2 | n.4180C>T c.3347C>T (p.Ala1116Val) c.2327C>T (p.Ala776Val) c.3047C>T (p.Ala1016Val) c.3197C>T (p.Ala1066Val) c.3170C>T (p.Ala1057Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945498G>C | CA369851597 | KCNH2 | n.4180C>G c.3347C>G (p.Ala1116Gly) c.2327C>G (p.Ala776Gly) c.3047C>G (p.Ala1016Gly) c.3197C>G (p.Ala1066Gly) c.3170C>G (p.Ala1057Gly) | |
7 | g.150945498G= | CA1752425843 | KCNH2 | n.4180C= c.3347C= (p.Ala1116=) c.2327C= (p.Ala776=) c.3047C= (p.Ala1016=) c.3197C= (p.Ala1066=) c.3170C= (p.Ala1057=) | |
7 | g.150945498G>T | CA369851596 | KCNH2 | n.4180C>A c.3347C>A (p.Ala1116Glu) c.2327C>A (p.Ala776Glu) c.3047C>A (p.Ala1016Glu) c.3197C>A (p.Ala1066Glu) c.3170C>A (p.Ala1057Glu) | gnomAD v4 |
7 | g.150945499C>A | CA369851598 | KCNH2 | n.4179G>T c.3346G>T (p.Ala1116Ser) c.2326G>T (p.Ala776Ser) c.3046G>T (p.Ala1016Ser) c.3196G>T (p.Ala1066Ser) c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
7 | g.150945499C= | CA1752425847 | KCNH2 | n.4179G= c.3346G= (p.Ala1116=) c.2326G= (p.Ala776=) c.3046G= (p.Ala1016=) c.3196G= (p.Ala1066=) c.3169G= (p.Ala1057=) | |
7 | g.150945499C>G | CA369851600 | KCNH2 | n.4179G>C c.3346G>C (p.Ala1116Pro) c.2326G>C (p.Ala776Pro) c.3046G>C (p.Ala1016Pro) c.3196G>C (p.Ala1066Pro) c.3169G>C (p.Ala1057Pro) | |
7 | g.150945499C>T | CA369851599 | KCNH2 | n.4179G>A c.3346G>A (p.Ala1116Thr) c.2326G>A (p.Ala776Thr) c.3046G>A (p.Ala1016Thr) c.3196G>A (p.Ala1066Thr) c.3169G>A (p.Ala1057Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.150945500C>A | CA369851601 | KCNH2 | n.4178G>T c.3345G>T (p.Met1115Ile) c.2325G>T (p.Met775Ile) c.3045G>T (p.Met1015Ile) c.3195G>T (p.Met1065Ile) c.3168G>T (p.Met1056Ile) | gnomAD v4 |
7 | g.150945500C>G | CA369851602 | KCNH2 | n.4178G>C c.3345G>C (p.Met1115Ile) c.2325G>C (p.Met775Ile) c.3045G>C (p.Met1015Ile) c.3195G>C (p.Met1065Ile) c.3168G>C (p.Met1056Ile) | |
7 | g.150945500C>T | CA369851603 | KCNH2 | n.4178G>A c.3345G>A (p.Met1115Ile) c.2325G>A (p.Met775Ile) c.3045G>A (p.Met1015Ile) c.3195G>A (p.Met1065Ile) c.3168G>A (p.Met1056Ile) | gnomAD v4 |
7 | g.150945500_150945501insGT | CA1108704350 | KCNH2 | n.4177_4178insAC c.3344_3345insAC (p.Met1115IlefsTer?) c.2324_2325insAC (p.Met775IlefsTer?) c.3044_3045insAC (p.Met1015IlefsTer?) c.3194_3195insAC (p.Met1065IlefsTer?) c.3167_3168insAC (p.Met1056IlefsTer?) | gnomAD v3 gnomAD v4 |
7 | g.150945501A= | CA1752425850 | KCNH2 | n.4177T= c.3344T= (p.Met1115=) c.2324T= (p.Met775=) c.3044T= (p.Met1015=) c.3194T= (p.Met1065=) c.3167T= (p.Met1056=) | |
7 | g.150945501A>C | CA369851604 | KCNH2 | n.4177T>G c.3344T>G (p.Met1115Arg) c.2324T>G (p.Met775Arg) c.3044T>G (p.Met1015Arg) c.3194T>G (p.Met1065Arg) c.3167T>G (p.Met1056Arg) | |
7 | g.150945501A>G | CA038742 | KCNH2 | n.4177T>C c.3344T>C (p.Met1115Thr) c.2324T>C (p.Met775Thr) c.3044T>C (p.Met1015Thr) c.3194T>C (p.Met1065Thr) c.3167T>C (p.Met1056Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945501A>T | CA369851605 | KCNH2 | n.4177T>A c.3344T>A (p.Met1115Lys) c.2324T>A (p.Met775Lys) c.3044T>A (p.Met1015Lys) c.3194T>A (p.Met1065Lys) c.3167T>A (p.Met1056Lys) | dbSNP gnomAD v4 |
7 | g.150945502T>A | CA369851606 | KCNH2 | n.4176A>T c.3343A>T (p.Met1115Leu) c.2323A>T (p.Met775Leu) c.3043A>T (p.Met1015Leu) c.3193A>T (p.Met1065Leu) c.3166A>T (p.Met1056Leu) | |
7 | g.150945502T>C | CA008225 | KCNH2 | n.4176A>G c.3343A>G (p.Met1115Val) c.2323A>G (p.Met775Val) c.3043A>G (p.Met1015Val) c.3193A>G (p.Met1065Val) c.3166A>G (p.Met1056Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945502T>G | CA369851607 | KCNH2 | n.4176A>C c.3343A>C (p.Met1115Leu) c.2323A>C (p.Met775Leu) c.3043A>C (p.Met1015Leu) c.3193A>C (p.Met1065Leu) c.3166A>C (p.Met1056Leu) | |
7 | g.150945502T= | CA1752425855 | KCNH2 | n.4176A= c.3343A= (p.Met1115=) c.2323A= (p.Met775=) c.3043A= (p.Met1015=) c.3193A= (p.Met1065=) c.3166A= (p.Met1056=) | |
7 | g.150945502_150945503insCATTAAAA | CA1108704354 | KCNH2 | n.4175_4176insTTTTAATG c.3342_3343insTTTTAATG (p.Met1115PhefsTer2) c.2322_2323insTTTTAATG (p.Met775PhefsTer2) c.3042_3043insTTTTAATG (p.Met1015PhefsTer2) c.3192_3193insTTTTAATG (p.Met1065PhefsTer2) c.3165_3166insTTTTAATG (p.Met1056PhefsTer2) | gnomAD v3 gnomAD v4 |
7 | g.150945503G>A | CA458644602 | KCNH2 | n.4175C>T c.3342C>T (p.Phe1114=) c.2322C>T (p.Phe774=) c.3042C>T (p.Phe1014=) c.3192C>T (p.Phe1064=) c.3165C>T (p.Phe1055=) | gnomAD v3 gnomAD v4 |
7 | g.150945503G>C | CA369851608 | KCNH2 | n.4175C>G c.3342C>G (p.Phe1114Leu) c.2322C>G (p.Phe774Leu) c.3042C>G (p.Phe1014Leu) c.3192C>G (p.Phe1064Leu) c.3165C>G (p.Phe1055Leu) | ClinVar gnomAD v4 |
7 | g.150945503G>T | CA369851609 | KCNH2 | n.4175C>A c.3342C>A (p.Phe1114Leu) c.2322C>A (p.Phe774Leu) c.3042C>A (p.Phe1014Leu) c.3192C>A (p.Phe1064Leu) c.3165C>A (p.Phe1055Leu) | gnomAD v4 |
7 | g.150945504A>C | CA369851612 | KCNH2 | n.4174T>G c.3341T>G (p.Phe1114Cys) c.2321T>G (p.Phe774Cys) c.3041T>G (p.Phe1014Cys) c.3191T>G (p.Phe1064Cys) c.3164T>G (p.Phe1055Cys) | |
7 | g.150945504A>G | CA369851611 | KCNH2 | n.4174T>C c.3341T>C (p.Phe1114Ser) c.2321T>C (p.Phe774Ser) c.3041T>C (p.Phe1014Ser) c.3191T>C (p.Phe1064Ser) c.3164T>C (p.Phe1055Ser) | |
7 | g.150945504A>T | CA369851610 | KCNH2 | n.4174T>A c.3341T>A (p.Phe1114Tyr) c.2321T>A (p.Phe774Tyr) c.3041T>A (p.Phe1014Tyr) c.3191T>A (p.Phe1064Tyr) c.3164T>A (p.Phe1055Tyr) | |
7 | g.150945505A>C | CA369851613 | KCNH2 | n.4173T>G c.3340T>G (p.Phe1114Val) c.2320T>G (p.Phe774Val) c.3040T>G (p.Phe1014Val) c.3190T>G (p.Phe1064Val) c.3163T>G (p.Phe1055Val) | |
7 | g.150945505A>G | CA369851614 | KCNH2 | n.4173T>C c.3340T>C (p.Phe1114Leu) c.2320T>C (p.Phe774Leu) c.3040T>C (p.Phe1014Leu) c.3190T>C (p.Phe1064Leu) c.3163T>C (p.Phe1055Leu) | gnomAD v4 |
7 | g.150945505A>T | CA369851615 | KCNH2 | n.4173T>A c.3340T>A (p.Phe1114Ile) c.2320T>A (p.Phe774Ile) c.3040T>A (p.Phe1014Ile) c.3190T>A (p.Phe1064Ile) c.3163T>A (p.Phe1055Ile) | |
7 | g.150945506C>A | CA369851616 | KCNH2 | n.4172G>T c.3339G>T (p.Gln1113His) c.2319G>T (p.Gln773His) c.3039G>T (p.Gln1013His) c.3189G>T (p.Gln1063His) c.3162G>T (p.Gln1054His) | gnomAD v4 |
7 | g.150945506C= | CA1752425862 | KCNH2 | n.4172G= c.3339G= (p.Gln1113=) c.2319G= (p.Gln773=) c.3039G= (p.Gln1013=) c.3189G= (p.Gln1063=) c.3162G= (p.Gln1054=) | |
7 | g.150945506C>G | CA369851617 | KCNH2 | n.4172G>C c.3339G>C (p.Gln1113His) c.2319G>C (p.Gln773His) c.3039G>C (p.Gln1013His) c.3189G>C (p.Gln1063His) c.3162G>C (p.Gln1054His) | gnomAD v4 |
7 | g.150945506C>T | CA458644603 | KCNH2 | n.4172G>A c.3339G>A (p.Gln1113=) c.2319G>A (p.Gln773=) c.3039G>A (p.Gln1013=) c.3189G>A (p.Gln1063=) c.3162G>A (p.Gln1054=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945507T>A | CA369851618 | KCNH2 | n.4171A>T c.3338A>T (p.Gln1113Leu) c.2318A>T (p.Gln773Leu) c.3038A>T (p.Gln1013Leu) c.3188A>T (p.Gln1063Leu) c.3161A>T (p.Gln1054Leu) | |
7 | g.150945507T>C | CA369851619 | KCNH2 | n.4171A>G c.3338A>G (p.Gln1113Arg) c.2318A>G (p.Gln773Arg) c.3038A>G (p.Gln1013Arg) c.3188A>G (p.Gln1063Arg) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
7 | g.150945507T>G | CA369851620 | KCNH2 | n.4171A>C c.3338A>C (p.Gln1113Pro) c.2318A>C (p.Gln773Pro) c.3038A>C (p.Gln1013Pro) c.3188A>C (p.Gln1063Pro) c.3161A>C (p.Gln1054Pro) | |
7 | g.150945508G>A | CA369851621 | KCNH2 | n.4170C>T c.3337C>T (p.Gln1113Ter) c.2317C>T (p.Gln773Ter) c.3037C>T (p.Gln1013Ter) c.3187C>T (p.Gln1063Ter) c.3160C>T (p.Gln1054Ter) | gnomAD v4 |
7 | g.150945508G>C | CA369851622 | KCNH2 | n.4170C>G c.3337C>G (p.Gln1113Glu) c.2317C>G (p.Gln773Glu) c.3037C>G (p.Gln1013Glu) c.3187C>G (p.Gln1063Glu) c.3160C>G (p.Gln1054Glu) | |
7 | g.150945508G>T | CA369851623 | KCNH2 | n.4170C>A c.3337C>A (p.Gln1113Lys) c.2317C>A (p.Gln773Lys) c.3037C>A (p.Gln1013Lys) c.3187C>A (p.Gln1063Lys) c.3160C>A (p.Gln1054Lys) | gnomAD v4 |
7 | g.150945509G>A | CA458644604 | KCNH2 | n.4169C>T c.3336C>T (p.Ser1112=) c.2316C>T (p.Ser772=) c.3036C>T (p.Ser1012=) c.3186C>T (p.Ser1062=) c.3159C>T (p.Ser1053=) | dbSNP gnomAD v4 |
7 | g.150945509G>C | CA458644606 | KCNH2 | n.4169C>G c.3336C>G (p.Ser1112=) c.2316C>G (p.Ser772=) c.3036C>G (p.Ser1012=) c.3186C>G (p.Ser1062=) c.3159C>G (p.Ser1053=) | gnomAD v4 |
7 | g.150945509G= | CA1752425866 | KCNH2 | n.4169C= c.3336C= (p.Ser1112=) c.2316C= (p.Ser772=) c.3036C= (p.Ser1012=) c.3186C= (p.Ser1062=) c.3159C= (p.Ser1053=) | |
7 | g.150945509G>T | CA458644605 | KCNH2 | n.4169C>A c.3336C>A (p.Ser1112=) c.2316C>A (p.Ser772=) c.3036C>A (p.Ser1012=) c.3186C>A (p.Ser1062=) c.3159C>A (p.Ser1053=) | dbSNP gnomAD v4 |
7 | g.150945510G>A | CA369851626 | KCNH2 | n.4168C>T c.3335C>T (p.Ser1112Phe) c.2315C>T (p.Ser772Phe) c.3035C>T (p.Ser1012Phe) c.3185C>T (p.Ser1062Phe) c.3158C>T (p.Ser1053Phe) | gnomAD v4 |
7 | g.150945510G>C | CA369851625 | KCNH2 | n.4168C>G c.3335C>G (p.Ser1112Cys) c.2315C>G (p.Ser772Cys) c.3035C>G (p.Ser1012Cys) c.3185C>G (p.Ser1062Cys) c.3158C>G (p.Ser1053Cys) | dbSNP |
7 | g.150945510G= | CA1752425870 | KCNH2 | n.4168C= c.3335C= (p.Ser1112=) c.2315C= (p.Ser772=) c.3035C= (p.Ser1012=) c.3185C= (p.Ser1062=) c.3158C= (p.Ser1053=) | |
7 | g.150945510G>T | CA369851624 | KCNH2 | n.4168C>A c.3335C>A (p.Ser1112Tyr) c.2315C>A (p.Ser772Tyr) c.3035C>A (p.Ser1012Tyr) c.3185C>A (p.Ser1062Tyr) c.3158C>A (p.Ser1053Tyr) | |
7 | g.150945511A>C | CA369851627 | KCNH2 | n.4167T>G c.3334T>G (p.Ser1112Ala) c.2314T>G (p.Ser772Ala) c.3034T>G (p.Ser1012Ala) c.3184T>G (p.Ser1062Ala) c.3157T>G (p.Ser1053Ala) | |
7 | g.150945511A>G | CA369851628 | KCNH2 | n.4167T>C c.3334T>C (p.Ser1112Pro) c.2314T>C (p.Ser772Pro) c.3034T>C (p.Ser1012Pro) c.3184T>C (p.Ser1062Pro) c.3157T>C (p.Ser1053Pro) | |
7 | g.150945511A>T | CA369851629 | KCNH2 | n.4167T>A c.3334T>A (p.Ser1112Thr) c.2314T>A (p.Ser772Thr) c.3034T>A (p.Ser1012Thr) c.3184T>A (p.Ser1062Thr) c.3157T>A (p.Ser1053Thr) | |
7 | g.150945512A>C | CA458644607 | KCNH2 | n.4166T>G c.3333T>G (p.Val1111=) c.2313T>G (p.Val771=) c.3033T>G (p.Val1011=) c.3183T>G (p.Val1061=) c.3156T>G (p.Val1052=) | |
7 | g.150945512A>G | CA458644608 | KCNH2 | n.4166T>C c.3333T>C (p.Val1111=) c.2313T>C (p.Val771=) c.3033T>C (p.Val1011=) c.3183T>C (p.Val1061=) c.3156T>C (p.Val1052=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945512A>T | CA458644609 | KCNH2 | n.4166T>A c.3333T>A (p.Val1111=) c.2313T>A (p.Val771=) c.3033T>A (p.Val1011=) c.3183T>A (p.Val1061=) c.3156T>A (p.Val1052=) |