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.150948458_150948478dup | CA4566426 | KCNH2 | n.3496_3516dup c.2663_2683dup (p.Arg894_Thr895insLysLeuSerPheArgArgArg) c.1643_1663dup (p.Arg554_Thr555insLysLeuSerPheArgArgArg) c.2363_2383dup (p.Arg794_Thr795insLysLeuSerPheArgArgArg) c.2513_2533dup (p.Arg844_Thr845insLysLeuSerPheArgArgArg) c.2486_2506dup (p.Arg835_Thr836insLysLeuSerPheArgArgArg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948478_150948483del | CA2685600492 | KCNH2 | n.3492_3497del c.2659_2664del (p.Arg887_Lys888del) c.1639_1644del (p.Arg547_Lys548del) c.2359_2364del (p.Arg787_Lys788del) c.2509_2514del (p.Arg837_Lys838del) c.2482_2487del (p.Arg828_Lys829del) | gnomAD v4 |
7 | g.150948476del | CA2695208814 | KCNH2 | n.3493del c.2660del (p.Arg887ProfsTer?) c.1640del (p.Arg547ProfsTer?) c.2360del (p.Arg787ProfsTer?) c.2510del (p.Arg837ProfsTer?) c.2483del (p.Arg828ProfsTer?) | |
7 | g.150948476C>A | CA369853704 | KCNH2 | n.3493G>T c.2660G>T (p.Arg887Leu) c.1640G>T (p.Arg547Leu) c.2360G>T (p.Arg787Leu) c.2510G>T (p.Arg837Leu) c.2483G>T (p.Arg828Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150948476C= | CA1752431375 | KCNH2 | n.3493G= c.2660G= (p.Arg887=) c.1640G= (p.Arg547=) c.2360G= (p.Arg787=) c.2510G= (p.Arg837=) c.2483G= (p.Arg828=) | |
7 | g.150948476C>G | CA369853705 | KCNH2 | n.3493G>C c.2660G>C (p.Arg887Pro) c.1640G>C (p.Arg547Pro) c.2360G>C (p.Arg787Pro) c.2510G>C (p.Arg837Pro) c.2483G>C (p.Arg828Pro) | dbSNP gnomAD v4 |
7 | g.150948476C>T | CA007095 | KCNH2 | n.3493G>A c.2660G>A (p.Arg887His) c.1640G>A (p.Arg547His) c.2360G>A (p.Arg787His) c.2510G>A (p.Arg837His) c.2483G>A (p.Arg828His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948476_150948485delinsCGCTTGCGTT | CA1752431380 | KCNH2 | n.3484_3493delinsAACGCAAGCG c.2651_2660delinsAACGCAAGCG (p.Gln884=) c.1631_1640delinsAACGCAAGCG (p.Gln544=) c.2351_2360delinsAACGCAAGCG (p.Gln784=) c.2501_2510delinsAACGCAAGCG (p.Gln834=) c.2474_2483delinsAACGCAAGCG (p.Gln825=) | |
7 | g.150948477G>A | CA007085 | KCNH2 | n.3492C>T c.2659C>T (p.Arg887Cys) c.1639C>T (p.Arg547Cys) c.2359C>T (p.Arg787Cys) c.2509C>T (p.Arg837Cys) c.2482C>T (p.Arg828Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948477G>C | CA033782 | KCNH2 | n.3492C>G c.2659C>G (p.Arg887Gly) c.1639C>G (p.Arg547Gly) c.2359C>G (p.Arg787Gly) c.2509C>G (p.Arg837Gly) c.2482C>G (p.Arg828Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948477G= | CA1752431383 | KCNH2 | n.3492C= c.2659C= (p.Arg887=) c.1639C= (p.Arg547=) c.2359C= (p.Arg787=) c.2509C= (p.Arg837=) c.2482C= (p.Arg828=) | |
7 | g.150948477G>T | CA033758 | KCNH2 | n.3492C>A c.2659C>A (p.Arg887Ser) c.1639C>A (p.Arg547Ser) c.2359C>A (p.Arg787Ser) c.2509C>A (p.Arg837Ser) c.2482C>A (p.Arg828Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948477_150948478delinsTT | CA2739278690 | KCNH2 | n.3491_3492delinsAA c.2658_2659delinsAA (p.Arg887Ser) c.1638_1639delinsAA (p.Arg547Ser) c.2358_2359delinsAA (p.Arg787Ser) c.2508_2509delinsAA (p.Arg837Ser) c.2481_2482delinsAA (p.Arg828Ser) | ClinVar |
7 | g.150948477_150948481dup | CA2695208815 | KCNH2 | n.3488_3492dup c.2655_2659dup (p.Arg887ProfsTer?) c.1635_1639dup (p.Arg547ProfsTer?) c.2355_2359dup (p.Arg787ProfsTer?) c.2505_2509dup (p.Arg837ProfsTer?) c.2478_2482dup (p.Arg828ProfsTer?) | |
7 | g.150948479_150948482dup | CA2685600494 | KCNH2 | n.3489_3492dup c.2656_2659dup (p.Arg887GlnfsTer?) c.1636_1639dup (p.Arg547GlnfsTer?) c.2356_2359dup (p.Arg787GlnfsTer?) c.2506_2509dup (p.Arg837GlnfsTer?) c.2479_2482dup (p.Arg828GlnfsTer?) | gnomAD v4 |
7 | g.150948479_150948487del | CA033618 | KCNH2 | n.3484_3492del c.2651_2659del (p.Gln884_Lys886del) c.1631_1639del (p.Gln544_Lys546del) c.2351_2359del (p.Gln784_Lys786del) c.2501_2509del (p.Gln834_Lys836del) c.2474_2482del (p.Gln825_Lys827del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948477_150948489del | CA2695208816 | KCNH2 | n.3480_3492del c.2647_2659del (p.Arg883AlafsTer?) c.1627_1639del (p.Arg543AlafsTer?) c.2347_2359del (p.Arg783AlafsTer?) c.2497_2509del (p.Arg833AlafsTer?) c.2470_2482del (p.Arg824AlafsTer?) | |
7 | g.150948478C>A | CA369853710 | KCNH2 | n.3491G>T c.2658G>T (p.Lys886Asn) c.1638G>T (p.Lys546Asn) c.2358G>T (p.Lys786Asn) c.2508G>T (p.Lys836Asn) c.2481G>T (p.Lys827Asn) | |
7 | g.150948478C= | CA1752431388 | KCNH2 | n.3491G= c.2658G= (p.Lys886=) c.1638G= (p.Lys546=) c.2358G= (p.Lys786=) c.2508G= (p.Lys836=) c.2481G= (p.Lys827=) | |
7 | g.150948478C>G | CA369853712 | KCNH2 | n.3491G>C c.2658G>C (p.Lys886Asn) c.1638G>C (p.Lys546Asn) c.2358G>C (p.Lys786Asn) c.2508G>C (p.Lys836Asn) c.2481G>C (p.Lys827Asn) | ClinVar |
7 | g.150948478C>T | CA033734 | KCNH2 | n.3491G>A c.2658G>A (p.Lys886=) c.1638G>A (p.Lys546=) c.2358G>A (p.Lys786=) c.2508G>A (p.Lys836=) c.2481G>A (p.Lys827=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948478_150948483delinsCTTGCG | CA1752431389 | KCNH2 | n.3486_3491delinsCGCAAG c.2653_2658delinsCGCAAG (p.Arg885=) c.1633_1638delinsCGCAAG (p.Arg545=) c.2353_2358delinsCGCAAG (p.Arg785=) c.2503_2508delinsCGCAAG (p.Arg835=) c.2476_2481delinsCGCAAG (p.Arg826=) | |
7 | g.150948479T>A | CA369853714 | KCNH2 | n.3490A>T c.2657A>T (p.Lys886Met) c.1637A>T (p.Lys546Met) c.2357A>T (p.Lys786Met) c.2507A>T (p.Lys836Met) c.2480A>T (p.Lys827Met) | |
7 | g.150948479T>C | CA369853716 | KCNH2 | n.3490A>G c.2657A>G (p.Lys886Arg) c.1637A>G (p.Lys546Arg) c.2357A>G (p.Lys786Arg) c.2507A>G (p.Lys836Arg) c.2480A>G (p.Lys827Arg) | |
7 | g.150948479T>G | CA369853717 | KCNH2 | n.3490A>C c.2657A>C (p.Lys886Thr) c.1637A>C (p.Lys546Thr) c.2357A>C (p.Lys786Thr) c.2507A>C (p.Lys836Thr) c.2480A>C (p.Lys827Thr) | ClinVar |
7 | g.150948480dup | CA658797038 | KCNH2 | n.3490dup c.2657dup (p.Arg887AlafsTer?) c.1637dup (p.Arg547AlafsTer?) c.2357dup (p.Arg787AlafsTer?) c.2507dup (p.Arg837AlafsTer?) c.2480dup (p.Arg828AlafsTer?) | ClinVar dbSNP |
7 | g.150948480_150948485dup | CA2685600497 | KCNH2 | n.3485_3490dup c.2652_2657dup (p.Lys886_Arg887insArgLys) c.1632_1637dup (p.Lys546_Arg547insArgLys) c.2352_2357dup (p.Lys786_Arg787insArgLys) c.2502_2507dup (p.Lys836_Arg837insArgLys) c.2475_2480dup (p.Lys827_Arg828insArgLys) | gnomAD v4 |
7 | g.150948483_150948487del | CA1139660338 | KCNH2 | n.3486_3490del c.2653_2657del (p.Arg885AlafsTer?) c.1633_1637del (p.Arg545AlafsTer?) c.2353_2357del (p.Arg785AlafsTer?) c.2503_2507del (p.Arg835AlafsTer?) c.2476_2480del (p.Arg826AlafsTer?) | ClinVar dbSNP |
7 | g.150948479_150948491delinsTTGCGTTGCCGAC | CA1752431396 | KCNH2 | n.3478_3490delinsGTCGGCAACGCAA c.2645_2657delinsGTCGGCAACGCAA (p.Ser882=) c.1625_1637delinsGTCGGCAACGCAA (p.Ser542=) c.2345_2357delinsGTCGGCAACGCAA (p.Ser782=) c.2495_2507delinsGTCGGCAACGCAA (p.Ser832=) c.2468_2480delinsGTCGGCAACGCAA (p.Ser823=) | |
7 | g.150948480T>A | CA369853719 | KCNH2 | n.3489A>T c.2656A>T (p.Lys886Ter) c.1636A>T (p.Lys546Ter) c.2356A>T (p.Lys786Ter) c.2506A>T (p.Lys836Ter) c.2479A>T (p.Lys827Ter) | |
7 | g.150948480T>C | CA369853720 | KCNH2 | n.3489A>G c.2656A>G (p.Lys886Glu) c.1636A>G (p.Lys546Glu) c.2356A>G (p.Lys786Glu) c.2506A>G (p.Lys836Glu) c.2479A>G (p.Lys827Glu) | dbSNP gnomAD v2 |
7 | g.150948480T>G | CA369853722 | KCNH2 | n.3489A>C c.2656A>C (p.Lys886Gln) c.1636A>C (p.Lys546Gln) c.2356A>C (p.Lys786Gln) c.2506A>C (p.Lys836Gln) c.2479A>C (p.Lys827Gln) | |
7 | g.150948480T= | CA1752431400 | KCNH2 | n.3489A= c.2656A= (p.Lys886=) c.1636A= (p.Lys546=) c.2356A= (p.Lys786=) c.2506A= (p.Lys836=) c.2479A= (p.Lys827=) | |
7 | g.150948482_150948493del | CA1752431399 | KCNH2 | n.3478_3489del c.2645_2656del (p.Ser882_Arg885del) c.1625_1636del (p.Ser542_Arg545del) c.2345_2356del (p.Ser782_Arg785del) c.2495_2506del (p.Ser832_Arg835del) c.2468_2479del (p.Ser823_Arg826del) | ClinVar dbSNP gnomAD v4 |
7 | g.150948481G>A | CA458644988 | KCNH2 | n.3488C>T c.2655C>T (p.Arg885=) c.1635C>T (p.Arg545=) c.2355C>T (p.Arg785=) c.2505C>T (p.Arg835=) c.2478C>T (p.Arg826=) | |
7 | g.150948481G>C | CA458644989 | KCNH2 | n.3488C>G c.2655C>G (p.Arg885=) c.1635C>G (p.Arg545=) c.2355C>G (p.Arg785=) c.2505C>G (p.Arg835=) c.2478C>G (p.Arg826=) | |
7 | g.150948481G>T | CA458644990 | KCNH2 | n.3488C>A c.2655C>A (p.Arg885=) c.1635C>A (p.Arg545=) c.2355C>A (p.Arg785=) c.2505C>A (p.Arg835=) c.2478C>A (p.Arg826=) | gnomAD v4 |
7 | g.150948481_150948483del | CA2778425473 | KCNH2 | n.3486_3488del c.2653_2655del (p.Arg885del) c.1633_1635del (p.Arg545del) c.2353_2355del (p.Arg785del) c.2503_2505del (p.Arg835del) c.2476_2478del (p.Arg826del) | |
7 | g.150948481_150948482insA | CA2579062613 | KCNH2 | n.3487_3488insT c.2654_2655insT (p.Lys886GlnfsTer?) c.1634_1635insT (p.Lys546GlnfsTer?) c.2354_2355insT (p.Lys786GlnfsTer?) c.2504_2505insT (p.Lys836GlnfsTer?) c.2477_2478insT (p.Lys827GlnfsTer?) | |
7 | g.150948482del | CA2695208817 | KCNH2 | n.3487del c.2654del (p.Arg885ProfsTer?) c.1634del (p.Arg545ProfsTer?) c.2354del (p.Arg785ProfsTer?) c.2504del (p.Arg835ProfsTer?) c.2477del (p.Arg826ProfsTer?) | |
7 | g.150948482C>A | CA369853724 | KCNH2 | n.3487G>T c.2654G>T (p.Arg885Leu) c.1634G>T (p.Arg545Leu) c.2354G>T (p.Arg785Leu) c.2504G>T (p.Arg835Leu) c.2477G>T (p.Arg826Leu) | |
7 | g.150948482C= | CA1752431405 | KCNH2 | n.3487G= c.2654G= (p.Arg885=) c.1634G= (p.Arg545=) c.2354G= (p.Arg785=) c.2504G= (p.Arg835=) c.2477G= (p.Arg826=) | |
7 | g.150948482C>G | CA033712 | KCNH2 | n.3487G>C c.2654G>C (p.Arg885Pro) c.1634G>C (p.Arg545Pro) c.2354G>C (p.Arg785Pro) c.2504G>C (p.Arg835Pro) c.2477G>C (p.Arg826Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948482C>T | CA033689 | KCNH2 | n.3487G>A c.2654G>A (p.Arg885His) c.1634G>A (p.Arg545His) c.2354G>A (p.Arg785His) c.2504G>A (p.Arg835His) c.2477G>A (p.Arg826His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150948482_150948485delinsAAGAG | CA916084343 | KCNH2 | n.3484_3487delinsCTCTT c.2651_2654delinsCTCTT (p.Gln884ProfsTer?) c.1631_1634delinsCTCTT (p.Gln544ProfsTer?) c.2351_2354delinsCTCTT (p.Gln784ProfsTer?) c.2501_2504delinsCTCTT (p.Gln834ProfsTer?) c.2474_2477delinsCTCTT (p.Gln825ProfsTer?) | |
7 | g.150948484_150948489dup | CA2685600500 | KCNH2 | n.3482_3487dup c.2649_2654dup (p.Arg885_Lys886insGlnArg) c.1629_1634dup (p.Arg545_Lys546insGlnArg) c.2349_2354dup (p.Arg785_Lys786insGlnArg) c.2499_2504dup (p.Arg835_Lys836insGlnArg) c.2472_2477dup (p.Arg826_Lys827insGlnArg) | gnomAD v4 |
7 | g.150948483G>A | CA007076 | KCNH2 | n.3486C>T c.2653C>T (p.Arg885Cys) c.1633C>T (p.Arg545Cys) c.2353C>T (p.Arg785Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948483G>C | CA369853728 | KCNH2 | n.3486C>G c.2653C>G (p.Arg885Gly) c.1633C>G (p.Arg545Gly) c.2353C>G (p.Arg785Gly) c.2503C>G (p.Arg835Gly) c.2476C>G (p.Arg826Gly) | |
7 | g.150948483G= | CA1752431413 | KCNH2 | n.3486C= c.2653C= (p.Arg885=) c.1633C= (p.Arg545=) c.2353C= (p.Arg785=) c.2503C= (p.Arg835=) c.2476C= (p.Arg826=) | |
7 | g.150948483G>T | CA033654 | KCNH2 | n.3486C>A c.2653C>A (p.Arg885Ser) c.1633C>A (p.Arg545Ser) c.2353C>A (p.Arg785Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948484T>A | CA369853730 | KCNH2 | n.3485A>T c.2652A>T (p.Gln884His) c.1632A>T (p.Gln544His) c.2352A>T (p.Gln784His) c.2502A>T (p.Gln834His) c.2475A>T (p.Gln825His) | |
7 | g.150948484T>C | CA458644991 | KCNH2 | n.3485A>G c.2652A>G (p.Gln884=) c.1632A>G (p.Gln544=) c.2352A>G (p.Gln784=) c.2502A>G (p.Gln834=) c.2475A>G (p.Gln825=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948484T>G | CA369853731 | KCNH2 | n.3485A>C c.2652A>C (p.Gln884His) c.1632A>C (p.Gln544His) c.2352A>C (p.Gln784His) c.2502A>C (p.Gln834His) c.2475A>C (p.Gln825His) | |
7 | g.150948484T= | CA1752431414 | KCNH2 | n.3485A= c.2652A= (p.Gln884=) c.1632A= (p.Gln544=) c.2352A= (p.Gln784=) c.2502A= (p.Gln834=) c.2475A= (p.Gln825=) | |
7 | g.150948484_150948485del | CA2778425489 | KCNH2 | n.3484_3485del c.2651_2652del (p.Gln884ProfsTer?) c.1631_1632del (p.Gln544ProfsTer?) c.2351_2352del (p.Gln784ProfsTer?) c.2501_2502del (p.Gln834ProfsTer?) c.2474_2475del (p.Gln825ProfsTer?) | |
7 | g.150948484_150948488dup | CA2697557667 | KCNH2 | n.3481_3485dup c.2648_2652dup (p.Arg885GlyfsTer?) c.1628_1632dup (p.Arg545GlyfsTer?) c.2348_2352dup (p.Arg785GlyfsTer?) c.2498_2502dup (p.Arg835GlyfsTer?) c.2471_2475dup (p.Arg826GlyfsTer?) | ClinVar |
7 | g.150948485T>A | CA369853733 | KCNH2 | n.3484A>T c.2651A>T (p.Gln884Leu) c.1631A>T (p.Gln544Leu) c.2351A>T (p.Gln784Leu) c.2501A>T (p.Gln834Leu) c.2474A>T (p.Gln825Leu) | |
7 | g.150948485T>C | CA369853736 | KCNH2 | n.3484A>G c.2651A>G (p.Gln884Arg) c.1631A>G (p.Gln544Arg) c.2351A>G (p.Gln784Arg) c.2501A>G (p.Gln834Arg) c.2474A>G (p.Gln825Arg) | ClinVar dbSNP |
7 | g.150948485T>G | CA369853735 | KCNH2 | n.3484A>C c.2651A>C (p.Gln884Pro) c.1631A>C (p.Gln544Pro) c.2351A>C (p.Gln784Pro) c.2501A>C (p.Gln834Pro) c.2474A>C (p.Gln825Pro) | |
7 | g.150948485T= | CA1752431415 | KCNH2 | n.3484A= c.2651A= (p.Gln884=) c.1631A= (p.Gln544=) c.2351A= (p.Gln784=) c.2501A= (p.Gln834=) c.2474A= (p.Gln825=) | |
7 | g.150948485_150948486insAAT | CA2778425491 | KCNH2 | n.3484_3485insTTA c.2651_2652insTTA (p.Gln884HisfsTer2) c.1631_1632insTTA (p.Gln544HisfsTer2) c.2351_2352insTTA (p.Gln784HisfsTer2) c.2501_2502insTTA (p.Gln834HisfsTer2) c.2474_2475insTTA (p.Gln825HisfsTer2) | |
7 | g.150948486G>A | CA369853738 | KCNH2 | n.3483C>T c.2650C>T (p.Gln884Ter) c.1630C>T (p.Gln544Ter) c.2350C>T (p.Gln784Ter) c.2500C>T (p.Gln834Ter) c.2473C>T (p.Gln825Ter) | gnomAD v4 |
7 | g.150948486G>C | CA369853741 | KCNH2 | n.3483C>G c.2650C>G (p.Gln884Glu) c.1630C>G (p.Gln544Glu) c.2350C>G (p.Gln784Glu) c.2500C>G (p.Gln834Glu) c.2473C>G (p.Gln825Glu) | |
7 | g.150948486G>T | CA369853740 | KCNH2 | n.3483C>A c.2650C>A (p.Gln884Lys) c.1630C>A (p.Gln544Lys) c.2350C>A (p.Gln784Lys) c.2500C>A (p.Gln834Lys) c.2473C>A (p.Gln825Lys) | |
7 | g.150948486_150948487insAT | CA2778425494 | KCNH2 | n.3482_3483insAT c.2649_2650insAT (p.Gln884IlefsTer?) c.1629_1630insAT (p.Gln544IlefsTer?) c.2349_2350insAT (p.Gln784IlefsTer?) c.2499_2500insAT (p.Gln834IlefsTer?) c.2472_2473insAT (p.Gln825IlefsTer?) | |
7 | g.150948487C>A | CA458644993 | KCNH2 | n.3482G>T c.2649G>T (p.Arg883=) c.1629G>T (p.Arg543=) c.2349G>T (p.Arg783=) c.2499G>T (p.Arg833=) c.2472G>T (p.Arg824=) | |
7 | g.150948487C= | CA1752431423 | KCNH2 | n.3482G= c.2649G= (p.Arg883=) c.1629G= (p.Arg543=) c.2349G= (p.Arg783=) c.2499G= (p.Arg833=) c.2472G= (p.Arg824=) | |
7 | g.150948487C>G | CA458644994 | KCNH2 | n.3482G>C c.2649G>C (p.Arg883=) c.1629G>C (p.Arg543=) c.2349G>C (p.Arg783=) c.2499G>C (p.Arg833=) c.2472G>C (p.Arg824=) | |
7 | g.150948487C>T | CA458644995 | KCNH2 | n.3482G>A c.2649G>A (p.Arg883=) c.1629G>A (p.Arg543=) c.2349G>A (p.Arg783=) c.2499G>A (p.Arg833=) c.2472G>A (p.Arg824=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948487_150948490delinsCCGA | CA1752431424 | KCNH2 | n.3479_3482delinsTCGG c.2646_2649delinsTCGG (p.Ser882=) c.1626_1629delinsTCGG (p.Ser542=) c.2346_2349delinsTCGG (p.Ser782=) c.2496_2499delinsTCGG (p.Ser832=) c.2469_2472delinsTCGG (p.Ser823=) | |
7 | g.150948488_150948498del | CA658761324 | KCNH2 | n.3472_3482del c.2639_2649del (p.Gly880AlafsTer?) c.1619_1629del (p.Gly540AlafsTer?) c.2339_2349del (p.Gly780AlafsTer?) c.2489_2499del (p.Gly830AlafsTer?) c.2462_2472del (p.Gly821AlafsTer?) | |
7 | g.150948488C>A | CA369853743 | KCNH2 | n.3481G>T c.2648G>T (p.Arg883Leu) c.1628G>T (p.Arg543Leu) c.2348G>T (p.Arg783Leu) c.2498G>T (p.Arg833Leu) c.2471G>T (p.Arg824Leu) | |
7 | g.150948488C= | CA1752431425 | KCNH2 | n.3481G= c.2648G= (p.Arg883=) c.1628G= (p.Arg543=) c.2348G= (p.Arg783=) c.2498G= (p.Arg833=) c.2471G= (p.Arg824=) | |
7 | g.150948488C>G | CA369853744 | KCNH2 | n.3481G>C c.2648G>C (p.Arg883Pro) c.1628G>C (p.Arg543Pro) c.2348G>C (p.Arg783Pro) c.2498G>C (p.Arg833Pro) c.2471G>C (p.Arg824Pro) | gnomAD v4 COSMIC COSMIC |
7 | g.150948488C>T | CA033600 | KCNH2 | n.3481G>A c.2648G>A (p.Arg883Gln) c.1628G>A (p.Arg543Gln) c.2348G>A (p.Arg783Gln) c.2498G>A (p.Arg833Gln) c.2471G>A (p.Arg824Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150948489_150948491del | CA1108705052 | KCNH2 | n.3479_3481del c.2646_2648del (p.Ser882del) c.1626_1628del (p.Ser542del) c.2346_2348del (p.Ser782del) c.2496_2498del (p.Ser832del) c.2469_2471del (p.Ser823del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948489del | CA2580077780 | KCNH2 | n.3480del c.2647del (p.Arg883GlyfsTer?) c.1627del (p.Arg543GlyfsTer?) c.2347del (p.Arg783GlyfsTer?) c.2497del (p.Arg833GlyfsTer?) c.2470del (p.Arg824GlyfsTer?) | ClinVar |
7 | g.150948489G>A | CA033587 | KCNH2 | n.3480C>T c.2647C>T (p.Arg883Trp) c.1627C>T (p.Arg543Trp) c.2347C>T (p.Arg783Trp) c.2497C>T (p.Arg833Trp) c.2470C>T (p.Arg824Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948489G>C | CA033575 | KCNH2 | n.3480C>G c.2647C>G (p.Arg883Gly) c.1627C>G (p.Arg543Gly) c.2347C>G (p.Arg783Gly) c.2497C>G (p.Arg833Gly) c.2470C>G (p.Arg824Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948489G= | CA1752431430 | KCNH2 | n.3480C= c.2647C= (p.Arg883=) c.1627C= (p.Arg543=) c.2347C= (p.Arg783=) c.2497C= (p.Arg833=) c.2470C= (p.Arg824=) | |
7 | g.150948489G>T | CA458644998 | KCNH2 | n.3480C>A c.2647C>A (p.Arg883=) c.1627C>A (p.Arg543=) c.2347C>A (p.Arg783=) c.2497C>A (p.Arg833=) c.2470C>A (p.Arg824=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948489_150948490del | CA2685600508 | KCNH2 | n.3479_3480del c.2646_2647del (p.Ser882ArgfsTer?) c.1626_1627del (p.Ser542ArgfsTer?) c.2346_2347del (p.Ser782ArgfsTer?) c.2496_2497del (p.Ser832ArgfsTer?) c.2469_2470del (p.Ser823ArgfsTer?) | gnomAD v4 |
7 | g.150948489_150948490insGCGACC | CA2778425505 | KCNH2 | n.3479_3480insGGTCGC c.2646_2647insGGTCGC (p.Ser882_Arg883insGlyArg) c.1626_1627insGGTCGC (p.Ser542_Arg543insGlyArg) c.2346_2347insGGTCGC (p.Ser782_Arg783insGlyArg) c.2496_2497insGGTCGC (p.Ser832_Arg833insGlyArg) c.2469_2470insGGTCGC (p.Ser823_Arg824insGlyArg) | |
7 | g.150948490A>C | CA369853748 | KCNH2 | n.3479T>G c.2646T>G (p.Ser882Arg) c.1626T>G (p.Ser542Arg) c.2346T>G (p.Ser782Arg) c.2496T>G (p.Ser832Arg) c.2469T>G (p.Ser823Arg) | |
7 | g.150948490A>G | CA458645000 | KCNH2 | n.3479T>C c.2646T>C (p.Ser882=) c.1626T>C (p.Ser542=) c.2346T>C (p.Ser782=) c.2496T>C (p.Ser832=) c.2469T>C (p.Ser823=) | |
7 | g.150948490A>T | CA369853749 | KCNH2 | n.3479T>A c.2646T>A (p.Ser882Arg) c.1626T>A (p.Ser542Arg) c.2346T>A (p.Ser782Arg) c.2496T>A (p.Ser832Arg) c.2469T>A (p.Ser823Arg) | |
7 | g.150948490_150948495del | CA2685600511 | KCNH2 | n.3474_3479del c.2641_2646del (p.Phe881_Ser882del) c.1621_1626del (p.Phe541_Ser542del) c.2341_2346del (p.Phe781_Ser782del) c.2491_2496del (p.Phe831_Ser832del) c.2464_2469del (p.Phe822_Ser823del) | ClinVar gnomAD v4 |
7 | g.150948491C>A | CA369853751 | KCNH2 | n.3478G>T c.2645G>T (p.Ser882Ile) c.1625G>T (p.Ser542Ile) c.2345G>T (p.Ser782Ile) c.2495G>T (p.Ser832Ile) c.2468G>T (p.Ser823Ile) | gnomAD v4 |
7 | g.150948491C>G | CA369853753 | KCNH2 | n.3478G>C c.2645G>C (p.Ser882Thr) c.1625G>C (p.Ser542Thr) c.2345G>C (p.Ser782Thr) c.2495G>C (p.Ser832Thr) c.2468G>C (p.Ser823Thr) | |
7 | g.150948491C>T | CA369853754 | KCNH2 | n.3478G>A c.2645G>A (p.Ser882Asn) c.1625G>A (p.Ser542Asn) c.2345G>A (p.Ser782Asn) c.2495G>A (p.Ser832Asn) c.2468G>A (p.Ser823Asn) | |
7 | g.150948492T>A | CA369853756 | KCNH2 | n.3477A>T c.2644A>T (p.Ser882Cys) c.1624A>T (p.Ser542Cys) c.2344A>T (p.Ser782Cys) c.2494A>T (p.Ser832Cys) c.2467A>T (p.Ser823Cys) | |
7 | g.150948492T>C | CA369853758 | KCNH2 | n.3477A>G c.2644A>G (p.Ser882Gly) c.1624A>G (p.Ser542Gly) c.2344A>G (p.Ser782Gly) c.2494A>G (p.Ser832Gly) c.2467A>G (p.Ser823Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948492T>G | CA369853759 | KCNH2 | n.3477A>C c.2644A>C (p.Ser882Arg) c.1624A>C (p.Ser542Arg) c.2344A>C (p.Ser782Arg) c.2494A>C (p.Ser832Arg) c.2467A>C (p.Ser823Arg) | |
7 | g.150948492T= | CA1752431433 | KCNH2 | n.3477A= c.2644A= (p.Ser882=) c.1624A= (p.Ser542=) c.2344A= (p.Ser782=) c.2494A= (p.Ser832=) c.2467A= (p.Ser823=) | |
7 | g.150948492_150948502delinsTGAAGCCACCC | CA1752431432 | KCNH2 | n.3467_3477delinsGGGTGGCTTCA c.2634_2644delinsGGGTGGCTTCA (p.Glu878=) c.1614_1624delinsGGGTGGCTTCA (p.Glu538=) c.2334_2344delinsGGGTGGCTTCA (p.Glu778=) c.2484_2494delinsGGGTGGCTTCA (p.Glu828=) c.2457_2467delinsGGGTGGCTTCA (p.Glu819=) | |
7 | g.150948493G>A | CA458645001 | KCNH2 | n.3476C>T c.2643C>T (p.Phe881=) c.1623C>T (p.Phe541=) c.2343C>T (p.Phe781=) c.2493C>T (p.Phe831=) c.2466C>T (p.Phe822=) | |
7 | g.150948493G>C | CA369853761 | KCNH2 | n.3476C>G c.2643C>G (p.Phe881Leu) c.1623C>G (p.Phe541Leu) c.2343C>G (p.Phe781Leu) c.2493C>G (p.Phe831Leu) c.2466C>G (p.Phe822Leu) | gnomAD v4 |
7 | g.150948493G>T | CA369853762 | KCNH2 | n.3476C>A c.2643C>A (p.Phe881Leu) c.1623C>A (p.Phe541Leu) c.2343C>A (p.Phe781Leu) c.2493C>A (p.Phe831Leu) c.2466C>A (p.Phe822Leu) | gnomAD v4 |
7 | g.150948493_150948502del | CA916080385 | KCNH2 | n.3467_3476del c.2634_2643del (p.Gly879ValfsTer?) c.1614_1623del (p.Gly539ValfsTer?) c.2334_2343del (p.Gly779ValfsTer?) c.2484_2493del (p.Gly829ValfsTer?) c.2457_2466del (p.Gly820ValfsTer?) | ClinVar dbSNP |
7 | g.150948494A>C | CA369853764 | KCNH2 | n.3475T>G c.2642T>G (p.Phe881Cys) c.1622T>G (p.Phe541Cys) c.2342T>G (p.Phe781Cys) c.2492T>G (p.Phe831Cys) c.2465T>G (p.Phe822Cys) | |
7 | g.150948494A>G | CA369853766 | KCNH2 | n.3475T>C c.2642T>C (p.Phe881Ser) c.1622T>C (p.Phe541Ser) c.2342T>C (p.Phe781Ser) c.2492T>C (p.Phe831Ser) c.2465T>C (p.Phe822Ser) | |
7 | g.150948494A>T | CA369853768 | KCNH2 | n.3475T>A c.2642T>A (p.Phe881Tyr) c.1622T>A (p.Phe541Tyr) c.2342T>A (p.Phe781Tyr) c.2492T>A (p.Phe831Tyr) c.2465T>A (p.Phe822Tyr) | |
7 | g.150948494_150948495insG | CA2778425513 | KCNH2 | n.3474_3475insC c.2641_2642insC (p.Phe881SerfsTer?) c.1621_1622insC (p.Phe541SerfsTer?) c.2341_2342insC (p.Phe781SerfsTer?) c.2491_2492insC (p.Phe831SerfsTer?) c.2464_2465insC (p.Phe822SerfsTer?) | |
7 | g.150948495A= | CA1752431440 | KCNH2 | n.3474T= c.2641T= (p.Phe881=) c.1621T= (p.Phe541=) c.2341T= (p.Phe781=) c.2491T= (p.Phe831=) c.2464T= (p.Phe822=) | |
7 | g.150948495A>C | CA369853769 | KCNH2 | n.3474T>G c.2641T>G (p.Phe881Val) c.1621T>G (p.Phe541Val) c.2341T>G (p.Phe781Val) c.2491T>G (p.Phe831Val) c.2464T>G (p.Phe822Val) | gnomAD v4 |
7 | g.150948495A>G | CA369853770 | KCNH2 | n.3474T>C c.2641T>C (p.Phe881Leu) c.1621T>C (p.Phe541Leu) c.2341T>C (p.Phe781Leu) c.2491T>C (p.Phe831Leu) c.2464T>C (p.Phe822Leu) | |
7 | g.150948495A>T | CA369853771 | KCNH2 | n.3474T>A c.2641T>A (p.Phe881Ile) c.1621T>A (p.Phe541Ile) c.2341T>A (p.Phe781Ile) c.2491T>A (p.Phe831Ile) c.2464T>A (p.Phe822Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948496G>A | CA458645003 | KCNH2 | n.3473C>T c.2640C>T (p.Gly880=) c.1620C>T (p.Gly540=) c.2340C>T (p.Gly780=) c.2490C>T (p.Gly830=) c.2463C>T (p.Gly821=) | gnomAD v4 |
7 | g.150948496G>C | CA458645004 | KCNH2 | n.3473C>G c.2640C>G (p.Gly880=) c.1620C>G (p.Gly540=) c.2340C>G (p.Gly780=) c.2490C>G (p.Gly830=) c.2463C>G (p.Gly821=) | |
7 | g.150948496G= | CA1752431444 | KCNH2 | n.3473C= c.2640C= (p.Gly880=) c.1620C= (p.Gly540=) c.2340C= (p.Gly780=) c.2490C= (p.Gly830=) c.2463C= (p.Gly821=) | |
7 | g.150948496G>T | CA458645005 | KCNH2 | n.3473C>A c.2640C>A (p.Gly880=) c.1620C>A (p.Gly540=) c.2340C>A (p.Gly780=) c.2490C>A (p.Gly830=) c.2463C>A (p.Gly821=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948497C>A | CA369853772 | KCNH2 | n.3472G>T c.2639G>T (p.Gly880Val) c.1619G>T (p.Gly540Val) c.2339G>T (p.Gly780Val) c.2489G>T (p.Gly830Val) c.2462G>T (p.Gly821Val) | |
7 | g.150948497C= | CA1752431448 | KCNH2 | n.3472G= c.2639G= (p.Gly880=) c.1619G= (p.Gly540=) c.2339G= (p.Gly780=) c.2489G= (p.Gly830=) c.2462G= (p.Gly821=) | |
7 | g.150948497C>G | CA369853774 | KCNH2 | n.3472G>C c.2639G>C (p.Gly880Ala) c.1619G>C (p.Gly540Ala) c.2339G>C (p.Gly780Ala) c.2489G>C (p.Gly830Ala) c.2462G>C (p.Gly821Ala) | |
7 | g.150948497C>T | CA369853775 | KCNH2 | n.3472G>A c.2639G>A (p.Gly880Asp) c.1619G>A (p.Gly540Asp) c.2339G>A (p.Gly780Asp) c.2489G>A (p.Gly830Asp) c.2462G>A (p.Gly821Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.150948497_150948498insTA | CA2778425519 | KCNH2 | n.3471_3472insTA c.2638_2639insTA (p.Gly880ValfsTer?) c.1618_1619insTA (p.Gly540ValfsTer?) c.2338_2339insTA (p.Gly780ValfsTer?) c.2488_2489insTA (p.Gly830ValfsTer?) c.2461_2462insTA (p.Gly821ValfsTer?) | |
7 | g.150948498C>A | CA369853778 | KCNH2 | n.3471G>T c.2638G>T (p.Gly880Cys) c.1618G>T (p.Gly540Cys) c.2338G>T (p.Gly780Cys) c.2488G>T (p.Gly830Cys) c.2461G>T (p.Gly821Cys) | |
7 | g.150948498C>G | CA369853780 | KCNH2 | n.3471G>C c.2638G>C (p.Gly880Arg) c.1618G>C (p.Gly540Arg) c.2338G>C (p.Gly780Arg) c.2488G>C (p.Gly830Arg) c.2461G>C (p.Gly821Arg) | |
7 | g.150948498C>T | CA369853781 | KCNH2 | n.3471G>A c.2638G>A (p.Gly880Ser) c.1618G>A (p.Gly540Ser) c.2338G>A (p.Gly780Ser) c.2488G>A (p.Gly830Ser) c.2461G>A (p.Gly821Ser) | gnomAD v4 |
7 | g.150948499_150948500del | CA2695208818 | KCNH2 | n.3470_3471del c.2637_2638del (p.Gly880LeufsTer?) c.1617_1618del (p.Gly540LeufsTer?) c.2337_2338del (p.Gly780LeufsTer?) c.2487_2488del (p.Gly830LeufsTer?) c.2460_2461del (p.Gly821LeufsTer?) | |
7 | g.150948499A>C | CA458645006 | KCNH2 | n.3470T>G c.2637T>G (p.Gly879=) c.1617T>G (p.Gly539=) c.2337T>G (p.Gly779=) c.2487T>G (p.Gly829=) c.2460T>G (p.Gly820=) | |
7 | g.150948499A>G | CA458645009 | KCNH2 | n.3470T>C c.2637T>C (p.Gly879=) c.1617T>C (p.Gly539=) c.2337T>C (p.Gly779=) c.2487T>C (p.Gly829=) c.2460T>C (p.Gly820=) | |
7 | g.150948499A>T | CA458645007 | KCNH2 | n.3470T>A c.2637T>A (p.Gly879=) c.1617T>A (p.Gly539=) c.2337T>A (p.Gly779=) c.2487T>A (p.Gly829=) c.2460T>A (p.Gly820=) | |
7 | g.150948500C>A | CA369853787 | KCNH2 | n.3469G>T c.2636G>T (p.Gly879Val) c.1616G>T (p.Gly539Val) c.2336G>T (p.Gly779Val) c.2486G>T (p.Gly829Val) c.2459G>T (p.Gly820Val) | |
7 | g.150948500C>G | CA369853785 | KCNH2 | n.3469G>C c.2636G>C (p.Gly879Ala) c.1616G>C (p.Gly539Ala) c.2336G>C (p.Gly779Ala) c.2486G>C (p.Gly829Ala) c.2459G>C (p.Gly820Ala) | |
7 | g.150948500C>T | CA369853783 | KCNH2 | n.3469G>A c.2636G>A (p.Gly879Asp) c.1616G>A (p.Gly539Asp) c.2336G>A (p.Gly779Asp) c.2486G>A (p.Gly829Asp) c.2459G>A (p.Gly820Asp) | ClinVar dbSNP |
7 | g.150948501C>A | CA369853792 | KCNH2 | n.3468G>T c.2635G>T (p.Gly879Cys) c.1615G>T (p.Gly539Cys) c.2335G>T (p.Gly779Cys) c.2485G>T (p.Gly829Cys) c.2458G>T (p.Gly820Cys) | |
7 | g.150948501C= | CA1752431453 | KCNH2 | n.3468G= c.2635G= (p.Gly879=) c.1615G= (p.Gly539=) c.2335G= (p.Gly779=) c.2485G= (p.Gly829=) c.2458G= (p.Gly820=) | |
7 | g.150948501C>G | CA007067 | KCNH2 | n.3468G>C c.2635G>C (p.Gly879Arg) c.1615G>C (p.Gly539Arg) c.2335G>C (p.Gly779Arg) c.2485G>C (p.Gly829Arg) c.2458G>C (p.Gly820Arg) | ClinVar dbSNP |
7 | g.150948501C>T | CA369853790 | KCNH2 | n.3468G>A c.2635G>A (p.Gly879Ser) c.1615G>A (p.Gly539Ser) c.2335G>A (p.Gly779Ser) c.2485G>A (p.Gly829Ser) c.2458G>A (p.Gly820Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948502C>A | CA369853794 | KCNH2 | n.3467G>T c.2634G>T (p.Glu878Asp) c.1614G>T (p.Glu538Asp) c.2334G>T (p.Glu778Asp) c.2484G>T (p.Glu828Asp) c.2457G>T (p.Glu819Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948502C= | CA1752431455 | KCNH2 | n.3467G= c.2634G= (p.Glu878=) c.1614G= (p.Glu538=) c.2334G= (p.Glu778=) c.2484G= (p.Glu828=) c.2457G= (p.Glu819=) | |
7 | g.150948502C>G | CA369853795 | KCNH2 | n.3467G>C c.2634G>C (p.Glu878Asp) c.1614G>C (p.Glu538Asp) c.2334G>C (p.Glu778Asp) c.2484G>C (p.Glu828Asp) c.2457G>C (p.Glu819Asp) | |
7 | g.150948502C>T | CA458645010 | KCNH2 | n.3467G>A c.2634G>A (p.Glu878=) c.1614G>A (p.Glu538=) c.2334G>A (p.Glu778=) c.2484G>A (p.Glu828=) c.2457G>A (p.Glu819=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948503T>A | CA369853797 | KCNH2 | n.3466A>T c.2633A>T (p.Glu878Val) c.1613A>T (p.Glu538Val) c.2333A>T (p.Glu778Val) c.2483A>T (p.Glu828Val) c.2456A>T (p.Glu819Val) | |
7 | g.150948503T>C | CA369853799 | KCNH2 | n.3466A>G c.2633A>G (p.Glu878Gly) c.1613A>G (p.Glu538Gly) c.2333A>G (p.Glu778Gly) c.2483A>G (p.Glu828Gly) c.2456A>G (p.Glu819Gly) | |
7 | g.150948503T>G | CA369853801 | KCNH2 | n.3466A>C c.2633A>C (p.Glu878Ala) c.1613A>C (p.Glu538Ala) c.2333A>C (p.Glu778Ala) c.2483A>C (p.Glu828Ala) c.2456A>C (p.Glu819Ala) | |
7 | g.150948504C>A | CA369853803 | KCNH2 | n.3465G>T c.2632G>T (p.Glu878Ter) c.1612G>T (p.Glu538Ter) c.2332G>T (p.Glu778Ter) c.2482G>T (p.Glu828Ter) c.2455G>T (p.Glu819Ter) | |
7 | g.150948504C>G | CA369853804 | KCNH2 | n.3465G>C c.2632G>C (p.Glu878Gln) c.1612G>C (p.Glu538Gln) c.2332G>C (p.Glu778Gln) c.2482G>C (p.Glu828Gln) c.2455G>C (p.Glu819Gln) | |
7 | g.150948504C>T | CA369853807 | KCNH2 | n.3465G>A c.2632G>A (p.Glu878Lys) c.1612G>A (p.Glu538Lys) c.2332G>A (p.Glu778Lys) c.2482G>A (p.Glu828Lys) c.2455G>A (p.Glu819Lys) | |
7 | g.150948505T>A | CA369853809 | KCNH2 | n.3464A>T c.2631A>T (p.Leu877Phe) c.1611A>T (p.Leu537Phe) c.2331A>T (p.Leu777Phe) c.2481A>T (p.Leu827Phe) c.2454A>T (p.Leu818Phe) | |
7 | g.150948505T>C | CA458645012 | KCNH2 | n.3464A>G c.2631A>G (p.Leu877=) c.1611A>G (p.Leu537=) c.2331A>G (p.Leu777=) c.2481A>G (p.Leu827=) c.2454A>G (p.Leu818=) | ClinVar dbSNP gnomAD v2 |
7 | g.150948505T>G | CA369853811 | KCNH2 | n.3464A>C c.2631A>C (p.Leu877Phe) c.1611A>C (p.Leu537Phe) c.2331A>C (p.Leu777Phe) c.2481A>C (p.Leu827Phe) c.2454A>C (p.Leu818Phe) | |
7 | g.150948505T= | CA1752431457 | KCNH2 | n.3464A= c.2631A= (p.Leu877=) c.1611A= (p.Leu537=) c.2331A= (p.Leu777=) c.2481A= (p.Leu827=) c.2454A= (p.Leu818=) | |
7 | g.150948506A>C | CA369853815 | KCNH2 | n.3463T>G c.2630T>G (p.Leu877Ter) c.1610T>G (p.Leu537Ter) c.2330T>G (p.Leu777Ter) c.2480T>G (p.Leu827Ter) c.2453T>G (p.Leu818Ter) | |
7 | g.150948506A>G | CA369853816 | KCNH2 | n.3463T>C c.2630T>C (p.Leu877Ser) c.1610T>C (p.Leu537Ser) c.2330T>C (p.Leu777Ser) c.2480T>C (p.Leu827Ser) c.2453T>C (p.Leu818Ser) | |
7 | g.150948506A>T | CA369853813 | KCNH2 | n.3463T>A c.2630T>A (p.Leu877Ter) c.1610T>A (p.Leu537Ter) c.2330T>A (p.Leu777Ter) c.2480T>A (p.Leu827Ter) c.2453T>A (p.Leu818Ter) | |
7 | g.150948507A>C | CA369853818 | KCNH2 | n.3462T>G c.2629T>G (p.Leu877Val) c.1609T>G (p.Leu537Val) c.2329T>G (p.Leu777Val) c.2479T>G (p.Leu827Val) c.2452T>G (p.Leu818Val) | |
7 | g.150948507A>G | CA458645013 | KCNH2 | n.3462T>C c.2629T>C (p.Leu877=) c.1609T>C (p.Leu537=) c.2329T>C (p.Leu777=) c.2479T>C (p.Leu827=) c.2452T>C (p.Leu818=) | |
7 | g.150948507A>T | CA369853819 | KCNH2 | n.3462T>A c.2629T>A (p.Leu877Ile) c.1609T>A (p.Leu537Ile) c.2329T>A (p.Leu777Ile) c.2479T>A (p.Leu827Ile) c.2452T>A (p.Leu818Ile) | |
7 | g.150948508C>A | CA369853821 | KCNH2 | n.3461G>T c.2628G>T (p.Glu876Asp) c.1608G>T (p.Glu536Asp) c.2328G>T (p.Glu776Asp) c.2478G>T (p.Glu826Asp) c.2451G>T (p.Glu817Asp) | |
7 | g.150948508C>G | CA369853822 | KCNH2 | n.3461G>C c.2628G>C (p.Glu876Asp) c.1608G>C (p.Glu536Asp) c.2328G>C (p.Glu776Asp) c.2478G>C (p.Glu826Asp) c.2451G>C (p.Glu817Asp) | |
7 | g.150948508C>T | CA458645014 | KCNH2 | n.3461G>A c.2628G>A (p.Glu876=) c.1608G>A (p.Glu536=) c.2328G>A (p.Glu776=) c.2478G>A (p.Glu826=) c.2451G>A (p.Glu817=) | ClinVar |
7 | g.150948509T>A | CA369853828 | KCNH2 | n.3460A>T c.2627A>T (p.Glu876Val) c.1607A>T (p.Glu536Val) c.2327A>T (p.Glu776Val) c.2477A>T (p.Glu826Val) c.2450A>T (p.Glu817Val) | |
7 | g.150948509T>C | CA369853827 | KCNH2 | n.3460A>G c.2627A>G (p.Glu876Gly) c.1607A>G (p.Glu536Gly) c.2327A>G (p.Glu776Gly) c.2477A>G (p.Glu826Gly) c.2450A>G (p.Glu817Gly) | |
7 | g.150948509T>G | CA369853825 | KCNH2 | n.3460A>C c.2627A>C (p.Glu876Ala) c.1607A>C (p.Glu536Ala) c.2327A>C (p.Glu776Ala) c.2477A>C (p.Glu826Ala) c.2450A>C (p.Glu817Ala) | |
7 | g.150948510C>A | CA369853830 | KCNH2 | n.3459G>T c.2626G>T (p.Glu876Ter) c.1606G>T (p.Glu536Ter) c.2326G>T (p.Glu776Ter) c.2476G>T (p.Glu826Ter) c.2449G>T (p.Glu817Ter) | ClinVar dbSNP |
7 | g.150948510C= | CA1752431464 | KCNH2 | n.3459G= c.2626G= (p.Glu876=) c.1606G= (p.Glu536=) c.2326G= (p.Glu776=) c.2476G= (p.Glu826=) c.2449G= (p.Glu817=) | |
7 | g.150948510C>G | CA369853832 | KCNH2 | n.3459G>C c.2626G>C (p.Glu876Gln) c.1606G>C (p.Glu536Gln) c.2326G>C (p.Glu776Gln) c.2476G>C (p.Glu826Gln) c.2449G>C (p.Glu817Gln) | |
7 | g.150948510C>T | CA369853833 | KCNH2 | n.3459G>A c.2626G>A (p.Glu876Lys) c.1606G>A (p.Glu536Lys) c.2326G>A (p.Glu776Lys) c.2476G>A (p.Glu826Lys) c.2449G>A (p.Glu817Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.150948513_150948520dup | CA658761325 | KCNH2 | n.3452_3459dup c.2619_2626dup (p.Glu876AlafsTer5) c.1599_1606dup (p.Glu536AlafsTer5) c.2319_2326dup (p.Glu776AlafsTer5) c.2469_2476dup (p.Glu826AlafsTer5) c.2442_2449dup (p.Glu817AlafsTer5) | |
7 | g.150948511C>A | CA458645016 | KCNH2 | n.3458G>T c.2625G>T (p.Thr875=) c.1605G>T (p.Thr535=) c.2325G>T (p.Thr775=) c.2475G>T (p.Thr825=) c.2448G>T (p.Thr816=) | |
7 | g.150948511C= | CA1752431470 | KCNH2 | n.3458G= c.2625G= (p.Thr875=) c.1605G= (p.Thr535=) c.2325G= (p.Thr775=) c.2475G= (p.Thr825=) c.2448G= (p.Thr816=) | |
7 | g.150948511C>G | CA458645017 | KCNH2 | n.3458G>C c.2625G>C (p.Thr875=) c.1605G>C (p.Thr535=) c.2325G>C (p.Thr775=) c.2475G>C (p.Thr825=) c.2448G>C (p.Thr816=) | |
7 | g.150948511C>T | CA033558 | KCNH2 | n.3458G>A c.2625G>A (p.Thr875=) c.1605G>A (p.Thr535=) c.2325G>A (p.Thr775=) c.2475G>A (p.Thr825=) c.2448G>A (p.Thr816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948512G>A | CA007057 | KCNH2 | n.3457C>T c.2624C>T (p.Thr875Met) c.1604C>T (p.Thr535Met) c.2324C>T (p.Thr775Met) c.2474C>T (p.Thr825Met) c.2447C>T (p.Thr816Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948512G>C | CA369853837 | KCNH2 | n.3457C>G c.2624C>G (p.Thr875Arg) c.1604C>G (p.Thr535Arg) c.2324C>G (p.Thr775Arg) c.2474C>G (p.Thr825Arg) c.2447C>G (p.Thr816Arg) | ClinVar dbSNP |
7 | g.150948512G= | CA1752431478 | KCNH2 | n.3457C= c.2624C= (p.Thr875=) c.1604C= (p.Thr535=) c.2324C= (p.Thr775=) c.2474C= (p.Thr825=) c.2447C= (p.Thr816=) | |
7 | g.150948512G>T | CA369853839 | KCNH2 | n.3457C>A c.2624C>A (p.Thr875Lys) c.1604C>A (p.Thr535Lys) c.2324C>A (p.Thr775Lys) c.2474C>A (p.Thr825Lys) c.2447C>A (p.Thr816Lys) | |
7 | g.150948513_150948517dup | CA2695208819 | KCNH2 | n.3453_3457dup c.2620_2624dup (p.Glu876ValfsTer4) c.1600_1604dup (p.Glu536ValfsTer4) c.2320_2324dup (p.Glu776ValfsTer4) c.2470_2474dup (p.Glu826ValfsTer4) c.2443_2447dup (p.Glu817ValfsTer4) | |
7 | g.150948513T>A | CA369853843 | KCNH2 | n.3456A>T c.2623A>T (p.Thr875Ser) c.1603A>T (p.Thr535Ser) c.2323A>T (p.Thr775Ser) c.2473A>T (p.Thr825Ser) c.2446A>T (p.Thr816Ser) | gnomAD v4 |
7 | g.150948513T>C | CA369853845 | KCNH2 | n.3456A>G c.2623A>G (p.Thr875Ala) c.1603A>G (p.Thr535Ala) c.2323A>G (p.Thr775Ala) c.2473A>G (p.Thr825Ala) c.2446A>G (p.Thr816Ala) | |
7 | g.150948513T>G | CA369853841 | KCNH2 | n.3456A>C c.2623A>C (p.Thr875Pro) c.1603A>C (p.Thr535Pro) c.2323A>C (p.Thr775Pro) c.2473A>C (p.Thr825Pro) c.2446A>C (p.Thr816Pro) | gnomAD v4 |
7 | g.150948514A= | CA1752431482 | KCNH2 | n.3455T= c.2622T= (p.Ser874=) c.1602T= (p.Ser534=) c.2322T= (p.Ser774=) c.2472T= (p.Ser824=) c.2445T= (p.Ser815=) | |
7 | g.150948514A>C | CA369853847 | KCNH2 | n.3455T>G c.2622T>G (p.Ser874Arg) c.1602T>G (p.Ser534Arg) c.2322T>G (p.Ser774Arg) c.2472T>G (p.Ser824Arg) c.2445T>G (p.Ser815Arg) | |
7 | g.150948514A>G | CA458645018 | KCNH2 | n.3455T>C c.2622T>C (p.Ser874=) c.1602T>C (p.Ser534=) c.2322T>C (p.Ser774=) c.2472T>C (p.Ser824=) c.2445T>C (p.Ser815=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948514A>T | CA369853849 | KCNH2 | n.3455T>A c.2622T>A (p.Ser874Arg) c.1602T>A (p.Ser534Arg) c.2322T>A (p.Ser774Arg) c.2472T>A (p.Ser824Arg) c.2445T>A (p.Ser815Arg) | |
7 | g.150948514_150948519dup | CA2685600520 | KCNH2 | n.3450_3455dup c.2617_2622dup (p.Ser874_Thr875insGlySer) c.1597_1602dup (p.Ser534_Thr535insGlySer) c.2317_2322dup (p.Ser774_Thr775insGlySer) c.2467_2472dup (p.Ser824_Thr825insGlySer) c.2440_2445dup (p.Ser815_Thr816insGlySer) | gnomAD v4 |
7 | g.150948515C>A | CA369853851 | KCNH2 | n.3454G>T c.2621G>T (p.Ser874Ile) c.1601G>T (p.Ser534Ile) c.2321G>T (p.Ser774Ile) c.2471G>T (p.Ser824Ile) c.2444G>T (p.Ser815Ile) | gnomAD v4 |
7 | g.150948515C>G | CA369853853 | KCNH2 | n.3454G>C c.2621G>C (p.Ser874Thr) c.1601G>C (p.Ser534Thr) c.2321G>C (p.Ser774Thr) c.2471G>C (p.Ser824Thr) c.2444G>C (p.Ser815Thr) | |
7 | g.150948515C>T | CA369853855 | KCNH2 | n.3454G>A c.2621G>A (p.Ser874Asn) c.1601G>A (p.Ser534Asn) c.2321G>A (p.Ser774Asn) c.2471G>A (p.Ser824Asn) c.2444G>A (p.Ser815Asn) | |
7 | g.150948516T>A | CA369853857 | KCNH2 | n.3453A>T c.2620A>T (p.Ser874Cys) c.1600A>T (p.Ser534Cys) c.2320A>T (p.Ser774Cys) c.2470A>T (p.Ser824Cys) c.2443A>T (p.Ser815Cys) | |
7 | g.150948516T>C | CA369853859 | KCNH2 | n.3453A>G c.2620A>G (p.Ser874Gly) c.1600A>G (p.Ser534Gly) c.2320A>G (p.Ser774Gly) c.2470A>G (p.Ser824Gly) c.2443A>G (p.Ser815Gly) | |
7 | g.150948516T>G | CA369853861 | KCNH2 | n.3453A>C c.2620A>C (p.Ser874Arg) c.1600A>C (p.Ser534Arg) c.2320A>C (p.Ser774Arg) c.2470A>C (p.Ser824Arg) c.2443A>C (p.Ser815Arg) | ClinVar |
7 | g.150948517G>A | CA458645019 | KCNH2 | n.3452C>T c.2619C>T (p.Gly873=) c.1599C>T (p.Gly533=) c.2319C>T (p.Gly773=) c.2469C>T (p.Gly823=) c.2442C>T (p.Gly814=) | |
7 | g.150948517G>C | CA458645020 | KCNH2 | n.3452C>G c.2619C>G (p.Gly873=) c.1599C>G (p.Gly533=) c.2319C>G (p.Gly773=) c.2469C>G (p.Gly823=) c.2442C>G (p.Gly814=) | |
7 | g.150948517G>T | CA458645021 | KCNH2 | n.3452C>A c.2619C>A (p.Gly873=) c.1599C>A (p.Gly533=) c.2319C>A (p.Gly773=) c.2469C>A (p.Gly823=) c.2442C>A (p.Gly814=) | |
7 | g.150948518C>A | CA369853863 | KCNH2 | n.3451G>T c.2618G>T (p.Gly873Val) c.1598G>T (p.Gly533Val) c.2318G>T (p.Gly773Val) c.2468G>T (p.Gly823Val) c.2441G>T (p.Gly814Val) | |
7 | g.150948518C>G | CA369853867 | KCNH2 | n.3451G>C c.2618G>C (p.Gly873Ala) c.1598G>C (p.Gly533Ala) c.2318G>C (p.Gly773Ala) c.2468G>C (p.Gly823Ala) c.2441G>C (p.Gly814Ala) | |
7 | g.150948518C>T | CA369853865 | KCNH2 | n.3451G>A c.2618G>A (p.Gly873Asp) c.1598G>A (p.Gly533Asp) c.2318G>A (p.Gly773Asp) c.2468G>A (p.Gly823Asp) c.2441G>A (p.Gly814Asp) | |
7 | g.150948519C>A | CA033518 | KCNH2 | n.3450G>T c.2617G>T (p.Gly873Cys) c.1597G>T (p.Gly533Cys) c.2317G>T (p.Gly773Cys) c.2467G>T (p.Gly823Cys) c.2440G>T (p.Gly814Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948519C= | CA1752431487 | KCNH2 | n.3450G= c.2617G= (p.Gly873=) c.1597G= (p.Gly533=) c.2317G= (p.Gly773=) c.2467G= (p.Gly823=) c.2440G= (p.Gly814=) | |
7 | g.150948519C>G | CA369853870 | KCNH2 | n.3450G>C c.2617G>C (p.Gly873Arg) c.1597G>C (p.Gly533Arg) c.2317G>C (p.Gly773Arg) c.2467G>C (p.Gly823Arg) c.2440G>C (p.Gly814Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150948519C>T | CA007051 | KCNH2 | n.3450G>A c.2617G>A (p.Gly873Ser) c.1597G>A (p.Gly533Ser) c.2317G>A (p.Gly773Ser) c.2467G>A (p.Gly823Ser) c.2440G>A (p.Gly814Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948519_150948523del | CA2695208820 | KCNH2 | n.3446_3450del c.2613_2617del (p.Pro872GlnfsTer?) c.1593_1597del (p.Pro532GlnfsTer?) c.2313_2317del (p.Pro772GlnfsTer?) c.2463_2467del (p.Pro822GlnfsTer?) c.2436_2440del (p.Pro813GlnfsTer?) | |
7 | g.150948520G>A | CA033489 | KCNH2 | n.3449C>T c.2616C>T (p.Pro872=) c.1596C>T (p.Pro532=) c.2316C>T (p.Pro772=) c.2466C>T (p.Pro822=) c.2439C>T (p.Pro813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948520G>C | CA458645022 | KCNH2 | n.3449C>G c.2616C>G (p.Pro872=) c.1596C>G (p.Pro532=) c.2316C>G (p.Pro772=) c.2466C>G (p.Pro822=) c.2439C>G (p.Pro813=) | |
7 | g.150948520G= | CA1752431494 | KCNH2 | n.3449C= c.2616C= (p.Pro872=) c.1596C= (p.Pro532=) c.2316C= (p.Pro772=) c.2466C= (p.Pro822=) c.2439C= (p.Pro813=) | |
7 | g.150948520G>T | CA458645023 | KCNH2 | n.3449C>A c.2616C>A (p.Pro872=) c.1596C>A (p.Pro532=) c.2316C>A (p.Pro772=) c.2466C>A (p.Pro822=) c.2439C>A (p.Pro813=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948524dup | CA915945572 | KCNH2 | n.3449dup c.2616dup (p.Gly873ArgfsTer?) c.1596dup (p.Gly533ArgfsTer?) c.2316dup (p.Gly773ArgfsTer?) c.2466dup (p.Gly823ArgfsTer?) c.2439dup (p.Gly814ArgfsTer?) | ClinVar dbSNP |
7 | g.150948524del | CA2579062628 | KCNH2 | n.3449del c.2616del (p.Gly873AlafsTer5) c.1596del (p.Gly533AlafsTer5) c.2316del (p.Gly773AlafsTer5) c.2466del (p.Gly823AlafsTer5) c.2439del (p.Gly814AlafsTer5) | gnomAD v4 |
7 | g.150948521G>A | CA369853874 | KCNH2 | n.3448C>T c.2615C>T (p.Pro872Leu) c.1595C>T (p.Pro532Leu) c.2315C>T (p.Pro772Leu) c.2465C>T (p.Pro822Leu) c.2438C>T (p.Pro813Leu) | |
7 | g.150948521G>C | CA369853877 | KCNH2 | n.3448C>G c.2615C>G (p.Pro872Arg) c.1595C>G (p.Pro532Arg) c.2315C>G (p.Pro772Arg) c.2465C>G (p.Pro822Arg) c.2438C>G (p.Pro813Arg) | |
7 | g.150948521G>T | CA369853875 | KCNH2 | n.3448C>A c.2615C>A (p.Pro872His) c.1595C>A (p.Pro532His) c.2315C>A (p.Pro772His) c.2465C>A (p.Pro822His) c.2438C>A (p.Pro813His) | gnomAD v4 |
7 | g.150948522G>A | CA369853879 | KCNH2 | n.3447C>T c.2614C>T (p.Pro872Ser) c.1594C>T (p.Pro532Ser) c.2314C>T (p.Pro772Ser) c.2464C>T (p.Pro822Ser) c.2437C>T (p.Pro813Ser) | |
7 | g.150948522G>C | CA369853881 | KCNH2 | n.3447C>G c.2614C>G (p.Pro872Ala) c.1594C>G (p.Pro532Ala) c.2314C>G (p.Pro772Ala) c.2464C>G (p.Pro822Ala) c.2437C>G (p.Pro813Ala) | gnomAD v4 |
7 | g.150948522G>T | CA369853883 | KCNH2 | n.3447C>A c.2614C>A (p.Pro872Thr) c.1594C>A (p.Pro532Thr) c.2314C>A (p.Pro772Thr) c.2464C>A (p.Pro822Thr) c.2437C>A (p.Pro813Thr) | ClinVar |
7 | g.150948526_150948533dup | CA2695208821 | KCNH2 | n.3440_3447dup c.2607_2614dup (p.Pro872ArgfsTer9) c.1587_1594dup (p.Pro532ArgfsTer9) c.2307_2314dup (p.Pro772ArgfsTer9) c.2457_2464dup (p.Pro822ArgfsTer9) c.2430_2437dup (p.Pro813ArgfsTer9) | |
7 | g.150948523G>A | CA458645027 | KCNH2 | n.3446C>T c.2613C>T (p.Ser871=) c.1593C>T (p.Ser531=) c.2313C>T (p.Ser771=) c.2463C>T (p.Ser821=) c.2436C>T (p.Ser812=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948523G>C | CA458645028 | KCNH2 | n.3446C>G c.2613C>G (p.Ser871=) c.1593C>G (p.Ser531=) c.2313C>G (p.Ser771=) c.2463C>G (p.Ser821=) c.2436C>G (p.Ser812=) | |
7 | g.150948523G= | CA1752431505 | KCNH2 | n.3446C= c.2613C= (p.Ser871=) c.1593C= (p.Ser531=) c.2313C= (p.Ser771=) c.2463C= (p.Ser821=) c.2436C= (p.Ser812=) | |
7 | g.150948523G>T | CA458645029 | KCNH2 | n.3446C>A c.2613C>A (p.Ser871=) c.1593C>A (p.Ser531=) c.2313C>A (p.Ser771=) c.2463C>A (p.Ser821=) c.2436C>A (p.Ser812=) | gnomAD v4 |
7 | g.150948524G>A | CA369853885 | KCNH2 | n.3445C>T c.2612C>T (p.Ser871Phe) c.1592C>T (p.Ser531Phe) c.2312C>T (p.Ser771Phe) c.2462C>T (p.Ser821Phe) c.2435C>T (p.Ser812Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948524G>C | CA369853887 | KCNH2 | n.3445C>G c.2612C>G (p.Ser871Cys) c.1592C>G (p.Ser531Cys) c.2312C>G (p.Ser771Cys) c.2462C>G (p.Ser821Cys) c.2435C>G (p.Ser812Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.150948524G= | CA1752431510 | KCNH2 | n.3445C= c.2612C= (p.Ser871=) c.1592C= (p.Ser531=) c.2312C= (p.Ser771=) c.2462C= (p.Ser821=) c.2435C= (p.Ser812=) | |
7 | g.150948524G>T | CA369853889 | KCNH2 | n.3445C>A c.2612C>A (p.Ser871Tyr) c.1592C>A (p.Ser531Tyr) c.2312C>A (p.Ser771Tyr) c.2462C>A (p.Ser821Tyr) c.2435C>A (p.Ser812Tyr) | |
7 | g.150948525A= | CA1752431516 | KCNH2 | n.3444T= c.2611T= (p.Ser871=) c.1591T= (p.Ser531=) c.2311T= (p.Ser771=) c.2461T= (p.Ser821=) c.2434T= (p.Ser812=) | |
7 | g.150948525A>C | CA169073230 | KCNH2 | n.3444T>G c.2611T>G (p.Ser871Ala) c.1591T>G (p.Ser531Ala) c.2311T>G (p.Ser771Ala) c.2461T>G (p.Ser821Ala) c.2434T>G (p.Ser812Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948525A>G | CA369853892 | KCNH2 | n.3444T>C c.2611T>C (p.Ser871Pro) c.1591T>C (p.Ser531Pro) c.2311T>C (p.Ser771Pro) c.2461T>C (p.Ser821Pro) c.2434T>C (p.Ser812Pro) | |
7 | g.150948525A>T | CA369853894 | KCNH2 | n.3444T>A c.2611T>A (p.Ser871Thr) c.1591T>A (p.Ser531Thr) c.2311T>A (p.Ser771Thr) c.2461T>A (p.Ser821Thr) c.2434T>A (p.Ser812Thr) | gnomAD v4 |
7 | g.150948526G>A | CA458645030 | KCNH2 | n.3443C>T c.2610C>T (p.Gly870=) c.1590C>T (p.Gly530=) c.2310C>T (p.Gly770=) c.2460C>T (p.Gly820=) c.2433C>T (p.Gly811=) | |
7 | g.150948526G>C | CA458645031 | KCNH2 | n.3443C>G c.2610C>G (p.Gly870=) c.1590C>G (p.Gly530=) c.2310C>G (p.Gly770=) c.2460C>G (p.Gly820=) c.2433C>G (p.Gly811=) | ClinVar dbSNP |
7 | g.150948526G>T | CA458645032 | KCNH2 | n.3443C>A c.2610C>A (p.Gly870=) c.1590C>A (p.Gly530=) c.2310C>A (p.Gly770=) c.2460C>A (p.Gly820=) c.2433C>A (p.Gly811=) | |
7 | g.150948527C>A | CA369853897 | KCNH2 | n.3442G>T c.2609G>T (p.Gly870Val) c.1589G>T (p.Gly530Val) c.2309G>T (p.Gly770Val) c.2459G>T (p.Gly820Val) c.2432G>T (p.Gly811Val) | gnomAD v4 |
7 | g.150948527C>G | CA369853898 | KCNH2 | n.3442G>C c.2609G>C (p.Gly870Ala) c.1589G>C (p.Gly530Ala) c.2309G>C (p.Gly770Ala) c.2459G>C (p.Gly820Ala) c.2432G>C (p.Gly811Ala) | |
7 | g.150948527C>T | CA369853901 | KCNH2 | n.3442G>A c.2609G>A (p.Gly870Asp) c.1589G>A (p.Gly530Asp) c.2309G>A (p.Gly770Asp) c.2459G>A (p.Gly820Asp) c.2432G>A (p.Gly811Asp) | gnomAD v4 |
7 | g.150948529del | CA2685600524 | KCNH2 | n.3442del c.2609del (p.Gly870AlafsTer8) c.1589del (p.Gly530AlafsTer8) c.2309del (p.Gly770AlafsTer8) c.2459del (p.Gly820AlafsTer8) c.2432del (p.Gly811AlafsTer8) | gnomAD v4 |
7 | g.150948528C>A | CA369853903 | KCNH2 | n.3441G>T c.2608G>T (p.Gly870Cys) c.1588G>T (p.Gly530Cys) c.2308G>T (p.Gly770Cys) c.2458G>T (p.Gly820Cys) c.2431G>T (p.Gly811Cys) | COSMIC |
7 | g.150948528C>G | CA369853907 | KCNH2 | n.3441G>C c.2608G>C (p.Gly870Arg) c.1588G>C (p.Gly530Arg) c.2308G>C (p.Gly770Arg) c.2458G>C (p.Gly820Arg) c.2431G>C (p.Gly811Arg) | |
7 | g.150948528C>T | CA369853905 | KCNH2 | n.3441G>A c.2608G>A (p.Gly870Ser) c.1588G>A (p.Gly530Ser) c.2308G>A (p.Gly770Ser) c.2458G>A (p.Gly820Ser) c.2431G>A (p.Gly811Ser) | ClinVar |
7 | g.150948529C>A | CA458645033 | KCNH2 | n.3440G>T c.2607G>T (p.Pro869=) c.1587G>T (p.Pro529=) c.2307G>T (p.Pro769=) c.2457G>T (p.Pro819=) c.2430G>T (p.Pro810=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948529C= | CA1752431517 | KCNH2 | n.3440G= c.2607G= (p.Pro869=) c.1587G= (p.Pro529=) c.2307G= (p.Pro769=) c.2457G= (p.Pro819=) c.2430G= (p.Pro810=) | |
7 | g.150948529C>G | CA458645034 | KCNH2 | n.3440G>C c.2607G>C (p.Pro869=) c.1587G>C (p.Pro529=) c.2307G>C (p.Pro769=) c.2457G>C (p.Pro819=) c.2430G>C (p.Pro810=) | |
7 | g.150948529C>T | CA007033 | KCNH2 | n.3440G>A c.2607G>A (p.Pro869=) c.1587G>A (p.Pro529=) c.2307G>A (p.Pro769=) c.2457G>A (p.Pro819=) c.2430G>A (p.Pro810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948530G>A | CA007025 | KCNH2 | n.3439C>T c.2606C>T (p.Pro869Leu) c.1586C>T (p.Pro529Leu) c.2306C>T (p.Pro769Leu) c.2456C>T (p.Pro819Leu) c.2429C>T (p.Pro810Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948530G>C | CA369853911 | KCNH2 | n.3439C>G c.2606C>G (p.Pro869Arg) c.1586C>G (p.Pro529Arg) c.2306C>G (p.Pro769Arg) c.2456C>G (p.Pro819Arg) c.2429C>G (p.Pro810Arg) | |
7 | g.150948530G= | CA1752431520 | KCNH2 | n.3439C= c.2606C= (p.Pro869=) c.1586C= (p.Pro529=) c.2306C= (p.Pro769=) c.2456C= (p.Pro819=) c.2429C= (p.Pro810=) | |
7 | g.150948530G>T | CA369853912 | KCNH2 | n.3439C>A c.2606C>A (p.Pro869Gln) c.1586C>A (p.Pro529Gln) c.2306C>A (p.Pro769Gln) c.2456C>A (p.Pro819Gln) c.2429C>A (p.Pro810Gln) | |
7 | g.150948531G>A | CA369853914 | KCNH2 | n.3438C>T c.2605C>T (p.Pro869Ser) c.1585C>T (p.Pro529Ser) c.2305C>T (p.Pro769Ser) c.2455C>T (p.Pro819Ser) c.2428C>T (p.Pro810Ser) | COSMIC COSMIC |
7 | g.150948531G>C | CA369853916 | KCNH2 | n.3438C>G c.2605C>G (p.Pro869Ala) c.1585C>G (p.Pro529Ala) c.2305C>G (p.Pro769Ala) c.2455C>G (p.Pro819Ala) c.2428C>G (p.Pro810Ala) | |
7 | g.150948531G>T | CA369853918 | KCNH2 | n.3438C>A c.2605C>A (p.Pro869Thr) c.1585C>A (p.Pro529Thr) c.2305C>A (p.Pro769Thr) c.2455C>A (p.Pro819Thr) c.2428C>A (p.Pro810Thr) | |
7 | g.150948533_150948542del | CA2695208822 | KCNH2 | n.3429_3438del c.2596_2605del (p.Asn866ArgfsTer9) c.1576_1585del (p.Asn526ArgfsTer9) c.2296_2305del (p.Asn766ArgfsTer9) c.2446_2455del (p.Asn816ArgfsTer9) c.2419_2428del (p.Asn807ArgfsTer9) | |
7 | g.150948532G>A | CA033422 | KCNH2 | n.3437C>T c.2604C>T (p.Ile868=) c.1584C>T (p.Ile528=) c.2304C>T (p.Ile768=) c.2454C>T (p.Ile818=) c.2427C>T (p.Ile809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948532G>C | CA369853921 | KCNH2 | n.3437C>G c.2604C>G (p.Ile868Met) c.1584C>G (p.Ile528Met) c.2304C>G (p.Ile768Met) c.2454C>G (p.Ile818Met) c.2427C>G (p.Ile809Met) | |
7 | g.150948532G= | CA1752431523 | KCNH2 | n.3437C= c.2604C= (p.Ile868=) c.1584C= (p.Ile528=) c.2304C= (p.Ile768=) c.2454C= (p.Ile818=) c.2427C= (p.Ile809=) | |
7 | g.150948532G>T | CA458645038 | KCNH2 | n.3437C>A c.2604C>A (p.Ile868=) c.1584C>A (p.Ile528=) c.2304C>A (p.Ile768=) c.2454C>A (p.Ile818=) c.2427C>A (p.Ile809=) | |
7 | g.150948533A>C | CA369853923 | KCNH2 | n.3436T>G c.2603T>G (p.Ile868Ser) c.1583T>G (p.Ile528Ser) c.2303T>G (p.Ile768Ser) c.2453T>G (p.Ile818Ser) c.2426T>G (p.Ile809Ser) | |
7 | g.150948533A>G | CA369853925 | KCNH2 | n.3436T>C c.2603T>C (p.Ile868Thr) c.1583T>C (p.Ile528Thr) c.2303T>C (p.Ile768Thr) c.2453T>C (p.Ile818Thr) c.2426T>C (p.Ile809Thr) | |
7 | g.150948533A>T | CA369853927 | KCNH2 | n.3436T>A c.2603T>A (p.Ile868Asn) c.1583T>A (p.Ile528Asn) c.2303T>A (p.Ile768Asn) c.2453T>A (p.Ile818Asn) c.2426T>A (p.Ile809Asn) | |
7 | g.150948534T>A | CA369853933 | KCNH2 | n.3435A>T c.2602A>T (p.Ile868Phe) c.1582A>T (p.Ile528Phe) c.2302A>T (p.Ile768Phe) c.2452A>T (p.Ile818Phe) c.2425A>T (p.Ile809Phe) | |
7 | g.150948534T>C | CA369853929 | KCNH2 | n.3435A>G c.2602A>G (p.Ile868Val) c.1582A>G (p.Ile528Val) c.2302A>G (p.Ile768Val) c.2452A>G (p.Ile818Val) c.2425A>G (p.Ile809Val) | |
7 | g.150948534T>G | CA369853931 | KCNH2 | n.3435A>C c.2602A>C (p.Ile868Leu) c.1582A>C (p.Ile528Leu) c.2302A>C (p.Ile768Leu) c.2452A>C (p.Ile818Leu) c.2425A>C (p.Ile809Leu) | |
7 | g.150948535C>A | CA369853934 | KCNH2 | n.3434G>T c.2601G>T (p.Met867Ile) c.1581G>T (p.Met527Ile) c.2301G>T (p.Met767Ile) c.2451G>T (p.Met817Ile) c.2424G>T (p.Met808Ile) | |
7 | g.150948535C>G | CA369853936 | KCNH2 | n.3434G>C c.2601G>C (p.Met867Ile) c.1581G>C (p.Met527Ile) c.2301G>C (p.Met767Ile) c.2451G>C (p.Met817Ile) c.2424G>C (p.Met808Ile) | |
7 | g.150948535C>T | CA369853938 | KCNH2 | n.3434G>A c.2601G>A (p.Met867Ile) c.1581G>A (p.Met527Ile) c.2301G>A (p.Met767Ile) c.2451G>A (p.Met817Ile) c.2424G>A (p.Met808Ile) | |
7 | g.150948536A= | CA1752431529 | KCNH2 | n.3433T= c.2600T= (p.Met867=) c.1580T= (p.Met527=) c.2300T= (p.Met767=) c.2450T= (p.Met817=) c.2423T= (p.Met808=) | |
7 | g.150948536A>C | CA369853940 | KCNH2 | n.3433T>G c.2600T>G (p.Met867Arg) c.1580T>G (p.Met527Arg) c.2300T>G (p.Met767Arg) c.2450T>G (p.Met817Arg) c.2423T>G (p.Met808Arg) | |
7 | g.150948536A>G | CA033403 | KCNH2 | n.3433T>C c.2600T>C (p.Met867Thr) c.1580T>C (p.Met527Thr) c.2300T>C (p.Met767Thr) c.2450T>C (p.Met817Thr) c.2423T>C (p.Met808Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948536A>T | CA369853943 | KCNH2 | n.3433T>A c.2600T>A (p.Met867Lys) c.1580T>A (p.Met527Lys) c.2300T>A (p.Met767Lys) c.2450T>A (p.Met817Lys) c.2423T>A (p.Met808Lys) | |
7 | g.150948537T>A | CA369853945 | KCNH2 | n.3432A>T c.2599A>T (p.Met867Leu) c.1579A>T (p.Met527Leu) c.2299A>T (p.Met767Leu) c.2449A>T (p.Met817Leu) c.2422A>T (p.Met808Leu) | |
7 | g.150948537T>C | CA369853947 | KCNH2 | n.3432A>G c.2599A>G (p.Met867Val) c.1579A>G (p.Met527Val) c.2299A>G (p.Met767Val) c.2449A>G (p.Met817Val) c.2422A>G (p.Met808Val) | |
7 | g.150948537T>G | CA369853949 | KCNH2 | n.3432A>C c.2599A>C (p.Met867Leu) c.1579A>C (p.Met527Leu) c.2299A>C (p.Met767Leu) c.2449A>C (p.Met817Leu) c.2422A>C (p.Met808Leu) | |
7 | g.150948539_150948541del | CA2778425547 | KCNH2 | n.3430_3432del c.2597_2599del (p.Asn866del) c.1577_1579del (p.Asn526del) c.2297_2299del (p.Asn766del) c.2447_2449del (p.Asn816del) c.2420_2422del (p.Asn807del) | |
7 | g.150948537_150948543del | CA2695208823 | KCNH2 | n.3426_3432del c.2593_2599del (p.Thr865Ter) c.1573_1579del (p.Thr525Ter) c.2293_2299del (p.Thr765Ter) c.2443_2449del (p.Thr815Ter) c.2416_2422del (p.Thr806Ter) | |
7 | g.150948538G>A | CA169073238 | KCNH2 | n.3431C>T c.2598C>T (p.Asn866=) c.1578C>T (p.Asn526=) c.2298C>T (p.Asn766=) c.2448C>T (p.Asn816=) c.2421C>T (p.Asn807=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948538G>C | CA369853951 | KCNH2 | n.3431C>G c.2598C>G (p.Asn866Lys) c.1578C>G (p.Asn526Lys) c.2298C>G (p.Asn766Lys) c.2448C>G (p.Asn816Lys) c.2421C>G (p.Asn807Lys) | |
7 | g.150948538G= | CA1752431532 | KCNH2 | n.3431C= c.2598C= (p.Asn866=) c.1578C= (p.Asn526=) c.2298C= (p.Asn766=) c.2448C= (p.Asn816=) c.2421C= (p.Asn807=) | |
7 | g.150948538G>T | CA369853952 | KCNH2 | n.3431C>A c.2598C>A (p.Asn866Lys) c.1578C>A (p.Asn526Lys) c.2298C>A (p.Asn766Lys) c.2448C>A (p.Asn816Lys) c.2421C>A (p.Asn807Lys) | |
7 | g.150948539T>A | CA369853958 | KCNH2 | n.3430A>T c.2597A>T (p.Asn866Ile) c.1577A>T (p.Asn526Ile) c.2297A>T (p.Asn766Ile) c.2447A>T (p.Asn816Ile) c.2420A>T (p.Asn807Ile) | dbSNP |
7 | g.150948539T>C | CA369853955 | KCNH2 | n.3430A>G c.2597A>G (p.Asn866Ser) c.1577A>G (p.Asn526Ser) c.2297A>G (p.Asn766Ser) c.2447A>G (p.Asn816Ser) c.2420A>G (p.Asn807Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948539T>G | CA369853957 | KCNH2 | n.3430A>C c.2597A>C (p.Asn866Thr) c.1577A>C (p.Asn526Thr) c.2297A>C (p.Asn766Thr) c.2447A>C (p.Asn816Thr) c.2420A>C (p.Asn807Thr) | |
7 | g.150948539T= | CA1752431537 | KCNH2 | n.3430A= c.2597A= (p.Asn866=) c.1577A= (p.Asn526=) c.2297A= (p.Asn766=) c.2447A= (p.Asn816=) c.2420A= (p.Asn807=) | |
7 | g.150948540T>A | CA369853961 | KCNH2 | n.3429A>T c.2596A>T (p.Asn866Tyr) c.1576A>T (p.Asn526Tyr) c.2296A>T (p.Asn766Tyr) c.2446A>T (p.Asn816Tyr) c.2419A>T (p.Asn807Tyr) | |
7 | g.150948540T>C | CA369853963 | KCNH2 | n.3429A>G c.2596A>G (p.Asn866Asp) c.1576A>G (p.Asn526Asp) c.2296A>G (p.Asn766Asp) c.2446A>G (p.Asn816Asp) c.2419A>G (p.Asn807Asp) | |
7 | g.150948540T>G | CA369853962 | KCNH2 | n.3429A>C c.2596A>C (p.Asn866His) c.1576A>C (p.Asn526His) c.2296A>C (p.Asn766His) c.2446A>C (p.Asn816His) c.2419A>C (p.Asn807His) | |
7 | g.150948541G>A | CA033385 | KCNH2 | n.3428C>T c.2595C>T (p.Thr865=) c.1575C>T (p.Thr525=) c.2295C>T (p.Thr765=) c.2445C>T (p.Thr815=) c.2418C>T (p.Thr806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948541G>C | CA458645043 | KCNH2 | n.3428C>G c.2595C>G (p.Thr865=) c.1575C>G (p.Thr525=) c.2295C>G (p.Thr765=) c.2445C>G (p.Thr815=) c.2418C>G (p.Thr806=) | ClinVar dbSNP |
7 | g.150948541G= | CA1752431540 | KCNH2 | n.3428C= c.2595C= (p.Thr865=) c.1575C= (p.Thr525=) c.2295C= (p.Thr765=) c.2445C= (p.Thr815=) c.2418C= (p.Thr806=) | |
7 | g.150948541G>T | CA458645041 | KCNH2 | n.3428C>A c.2595C>A (p.Thr865=) c.1575C>A (p.Thr525=) c.2295C>A (p.Thr765=) c.2445C>A (p.Thr815=) c.2418C>A (p.Thr806=) | |
7 | g.150948542G>A | CA369853966 | KCNH2 | n.3427C>T c.2594C>T (p.Thr865Ile) c.1574C>T (p.Thr525Ile) c.2294C>T (p.Thr765Ile) c.2444C>T (p.Thr815Ile) c.2417C>T (p.Thr806Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150948542G>C | CA033375 | KCNH2 | n.3427C>G c.2594C>G (p.Thr865Ser) c.1574C>G (p.Thr525Ser) c.2294C>G (p.Thr765Ser) c.2444C>G (p.Thr815Ser) c.2417C>G (p.Thr806Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948542G= | CA1752431546 | KCNH2 | n.3427C= c.2594C= (p.Thr865=) c.1574C= (p.Thr525=) c.2294C= (p.Thr765=) c.2444C= (p.Thr815=) c.2417C= (p.Thr806=) | |
7 | g.150948542G>T | CA369853968 | KCNH2 | n.3427C>A c.2594C>A (p.Thr865Asn) c.1574C>A (p.Thr525Asn) c.2294C>A (p.Thr765Asn) c.2444C>A (p.Thr815Asn) c.2417C>A (p.Thr806Asn) | |
7 | g.150948543T>A | CA369853970 | KCNH2 | n.3426A>T c.2593A>T (p.Thr865Ser) c.1573A>T (p.Thr525Ser) c.2293A>T (p.Thr765Ser) c.2443A>T (p.Thr815Ser) c.2416A>T (p.Thr806Ser) | |
7 | g.150948543T>C | CA369853972 | KCNH2 | n.3426A>G c.2593A>G (p.Thr865Ala) c.1573A>G (p.Thr525Ala) c.2293A>G (p.Thr765Ala) c.2443A>G (p.Thr815Ala) c.2416A>G (p.Thr806Ala) | |
7 | g.150948543T>G | CA369853974 | KCNH2 | n.3426A>C c.2593A>C (p.Thr865Pro) c.1573A>C (p.Thr525Pro) c.2293A>C (p.Thr765Pro) c.2443A>C (p.Thr815Pro) c.2416A>C (p.Thr806Pro) | |
7 | g.150948544C>A | CA369853976 | KCNH2 | n.3426-1G>T c.2593-1G>T (n.2593-1G>T) c.1573-1G>T (n.1573-1G>T) c.2293-1G>T (n.2293-1G>T) c.2443-1G>T (n.2443-1G>T) c.2416-1G>T (n.2416-1G>T) | |
7 | g.150948544C>G | CA369853977 | KCNH2 | n.3426-1G>C c.2593-1G>C (n.2593-1G>C) c.1573-1G>C (n.1573-1G>C) c.2293-1G>C (n.2293-1G>C) c.2443-1G>C (n.2443-1G>C) c.2416-1G>C (n.2416-1G>C) | ClinVar |
7 | g.150948544C>T | CA369853979 | KCNH2 | n.3426-1G>A c.2593-1G>A (n.2593-1G>A) c.1573-1G>A (n.1573-1G>A) c.2293-1G>A (n.2293-1G>A) c.2443-1G>A (n.2443-1G>A) c.2416-1G>A (n.2416-1G>A) | |
7 | g.150948545T>A | CA369853981 | KCNH2 | n.3426-2A>T c.2593-2A>T (n.2593-2A>T) c.1573-2A>T (n.1573-2A>T) c.2293-2A>T (n.2293-2A>T) c.2443-2A>T (n.2443-2A>T) c.2416-2A>T (n.2416-2A>T) | |
7 | g.150948545T>C | CA369853983 | KCNH2 | n.3426-2A>G c.2593-2A>G (n.2593-2A>G) c.1573-2A>G (n.1573-2A>G) c.2293-2A>G (n.2293-2A>G) c.2443-2A>G (n.2443-2A>G) c.2416-2A>G (n.2416-2A>G) | |
7 | g.150948545T>G | CA369853985 | KCNH2 | n.3426-2A>C c.2593-2A>C (n.2593-2A>C) c.1573-2A>C (n.1573-2A>C) c.2293-2A>C (n.2293-2A>C) c.2443-2A>C (n.2443-2A>C) c.2416-2A>C (n.2416-2A>C) | |
7 | g.150948547G>A | CA1108705099 | KCNH2 | n.3426-4C>T c.2593-4C>T (n.2593-4C>T) c.1573-4C>T (n.1573-4C>T) c.2293-4C>T (n.2293-4C>T) c.2443-4C>T (n.2443-4C>T) c.2416-4C>T (n.2416-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948547G= | CA1752431549 | KCNH2 | n.3426-4C= c.2593-4C= (n.2593-4C=) c.1573-4C= (n.1573-4C=) c.2293-4C= (n.2293-4C=) c.2443-4C= (n.2443-4C=) c.2416-4C= (n.2416-4C=) | |
7 | g.150948548_150948558del | CA2580077782 | KCNH2 | n.3426-15_3426-5del c.2593-15_2593-5del (n.2593-15_2593-5del) c.1573-15_1573-5del (n.1573-15_1573-5del) c.2293-15_2293-5del (n.2293-15_2293-5del) c.2443-15_2443-5del (n.2443-15_2443-5del) c.2416-15_2416-5del (n.2416-15_2416-5del) | ClinVar |
7 | g.150948550C= | CA1752431551 | KCNH2 | n.3426-7G= c.2593-7G= (n.2593-7G=) c.1573-7G= (n.1573-7G=) c.2293-7G= (n.2293-7G=) c.2443-7G= (n.2443-7G=) c.2416-7G= (n.2416-7G=) | |
7 | g.150948550C>G | CA2685600526 | KCNH2 | n.3426-7G>C c.2593-7G>C (n.2593-7G>C) c.1573-7G>C (n.1573-7G>C) c.2293-7G>C (n.2293-7G>C) c.2443-7G>C (n.2443-7G>C) c.2416-7G>C (n.2416-7G>C) | gnomAD v4 |
7 | g.150948550C>T | CA578701935 | KCNH2 | n.3426-7G>A c.2593-7G>A (n.2593-7G>A) c.1573-7G>A (n.1573-7G>A) c.2293-7G>A (n.2293-7G>A) c.2443-7G>A (n.2443-7G>A) c.2416-7G>A (n.2416-7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948551_150948552delinsCA | CA1752431553 | KCNH2 | n.3426-9_3426-8delinsTG c.2593-9_2593-8delinsTG (n.2593-9_2593-8delinsTG) c.1573-9_1573-8delinsTG (n.1573-9_1573-8delinsTG) c.2293-9_2293-8delinsTG (n.2293-9_2293-8delinsTG) c.2443-9_2443-8delinsTG (n.2443-9_2443-8delinsTG) c.2416-9_2416-8delinsTG (n.2416-9_2416-8delinsTG) | |
7 | g.150948555del | CA578701936 | KCNH2 | n.3426-9del c.2593-9del (n.2593-9del) c.1573-9del (n.1573-9del) c.2293-9del (n.2293-9del) c.2443-9del (n.2443-9del) c.2416-9del (n.2416-9del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948555A= | CA1752431557 | KCNH2 | n.3426-12T= c.2593-12T= (n.2593-12T=) c.1573-12T= (n.1573-12T=) c.2293-12T= (n.2293-12T=) c.2443-12T= (n.2443-12T=) c.2416-12T= (n.2416-12T=) | |
7 | g.150948555A>T | CA835223640 | KCNH2 | n.3426-12T>A c.2593-12T>A (n.2593-12T>A) c.1573-12T>A (n.1573-12T>A) c.2293-12T>A (n.2293-12T>A) c.2443-12T>A (n.2443-12T>A) c.2416-12T>A (n.2416-12T>A) | dbSNP |
7 | g.150948555_150948559delinsATCAG | CA1752431556 | KCNH2 | n.3426-16_3426-12delinsCTGAT c.2593-16_2593-12delinsCTGAT (n.2593-16_2593-12delinsCTGAT) c.1573-16_1573-12delinsCTGAT (n.1573-16_1573-12delinsCTGAT) c.2293-16_2293-12delinsCTGAT (n.2293-16_2293-12delinsCTGAT) c.2443-16_2443-12delinsCTGAT (n.2443-16_2443-12delinsCTGAT) c.2416-16_2416-12delinsCTGAT (n.2416-16_2416-12delinsCTGAT) | |
7 | g.150948557_150948560del | CA033213 | KCNH2 | n.3426-16_3426-13del c.2593-16_2593-13del (n.2593-16_2593-13del) c.1573-16_1573-13del (n.1573-16_1573-13del) c.2293-16_2293-13del (n.2293-16_2293-13del) c.2443-16_2443-13del (n.2443-16_2443-13del) c.2416-16_2416-13del (n.2416-16_2416-13del) | dbSNP ExAC gnomAD v2 |
7 | g.150948558A= | CA1752431561 | KCNH2 | n.3426-15T= c.2593-15T= (n.2593-15T=) c.1573-15T= (n.1573-15T=) c.2293-15T= (n.2293-15T=) c.2443-15T= (n.2443-15T=) c.2416-15T= (n.2416-15T=) | |
7 | g.150948558A>G | CA1108705103 | KCNH2 | n.3426-15T>C c.2593-15T>C (n.2593-15T>C) c.1573-15T>C (n.1573-15T>C) c.2293-15T>C (n.2293-15T>C) c.2443-15T>C (n.2443-15T>C) c.2416-15T>C (n.2416-15T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948559G>A | CA2499218793 | KCNH2 | n.3426-16C>T c.2593-16C>T (n.2593-16C>T) c.1573-16C>T (n.1573-16C>T) c.2293-16C>T (n.2293-16C>T) c.2443-16C>T (n.2443-16C>T) c.2416-16C>T (n.2416-16C>T) | ClinVar dbSNP |
7 | g.150948559G>C | CA2685600527 | KCNH2 | n.3426-16C>G c.2593-16C>G (n.2593-16C>G) c.1573-16C>G (n.1573-16C>G) c.2293-16C>G (n.2293-16C>G) c.2443-16C>G (n.2443-16C>G) c.2416-16C>G (n.2416-16C>G) | gnomAD v4 |
7 | g.150948559G= | CA1752431562 | KCNH2 | n.3426-16C= c.2593-16C= (n.2593-16C=) c.1573-16C= (n.1573-16C=) c.2293-16C= (n.2293-16C=) c.2443-16C= (n.2443-16C=) c.2416-16C= (n.2416-16C=) | |
7 | g.150948559G>T | CA033225 | KCNH2 | n.3426-16C>A c.2593-16C>A (n.2593-16C>A) c.1573-16C>A (n.1573-16C>A) c.2293-16C>A (n.2293-16C>A) c.2443-16C>A (n.2443-16C>A) c.2416-16C>A (n.2416-16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948560T>C | CA2685600528 | KCNH2 | n.3426-17A>G c.2593-17A>G (n.2593-17A>G) c.1573-17A>G (n.1573-17A>G) c.2293-17A>G (n.2293-17A>G) c.2443-17A>G (n.2443-17A>G) c.2416-17A>G (n.2416-17A>G) | ClinVar gnomAD v4 |
7 | g.150948560_150948561insTT | CA2580077783 | KCNH2 | n.3426-17_3426-16insAA c.2593-17_2593-16insAA (n.2593-17_2593-16insAA) c.1573-17_1573-16insAA (n.1573-17_1573-16insAA) c.2293-17_2293-16insAA (n.2293-17_2293-16insAA) c.2443-17_2443-16insAA (n.2443-17_2443-16insAA) c.2416-17_2416-16insAA (n.2416-17_2416-16insAA) | ClinVar |
7 | g.150948563C>T | CA2740901104 | KCNH2 | n.3426-20G>A c.2593-20G>A (n.2593-20G>A) c.1573-20G>A (n.1573-20G>A) c.2293-20G>A (n.2293-20G>A) c.2443-20G>A (n.2443-20G>A) c.2416-20G>A (n.2416-20G>A) | |
7 | g.150948564A= | CA1752431564 | KCNH2 | n.3426-21T= c.2593-21T= (n.2593-21T=) c.1573-21T= (n.1573-21T=) c.2293-21T= (n.2293-21T=) c.2443-21T= (n.2443-21T=) c.2416-21T= (n.2416-21T=) | |
7 | g.150948564A>C | CA2685600529 | KCNH2 | n.3426-21T>G c.2593-21T>G (n.2593-21T>G) c.1573-21T>G (n.1573-21T>G) c.2293-21T>G (n.2293-21T>G) c.2443-21T>G (n.2443-21T>G) c.2416-21T>G (n.2416-21T>G) | gnomAD v4 |
7 | g.150948564A>G | CA033235 | KCNH2 | n.3426-21T>C c.2593-21T>C (n.2593-21T>C) c.1573-21T>C (n.1573-21T>C) c.2293-21T>C (n.2293-21T>C) c.2443-21T>C (n.2443-21T>C) c.2416-21T>C (n.2416-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948565G>A | CA1752431566 | KCNH2 | n.3426-22C>T c.2593-22C>T (n.2593-22C>T) c.1573-22C>T (n.1573-22C>T) c.2293-22C>T (n.2293-22C>T) c.2443-22C>T (n.2443-22C>T) c.2416-22C>T (n.2416-22C>T) | dbSNP gnomAD v4 |
7 | g.150948565G= | CA1752431567 | KCNH2 | n.3426-22C= c.2593-22C= (n.2593-22C=) c.1573-22C= (n.1573-22C=) c.2293-22C= (n.2293-22C=) c.2443-22C= (n.2443-22C=) c.2416-22C= (n.2416-22C=) | |
7 | g.150948565G>T | CA2685600530 | KCNH2 | n.3426-22C>A c.2593-22C>A (n.2593-22C>A) c.1573-22C>A (n.1573-22C>A) c.2293-22C>A (n.2293-22C>A) c.2443-22C>A (n.2443-22C>A) c.2416-22C>A (n.2416-22C>A) | gnomAD v4 |
7 | g.150948566G>A | CA2685600531 | KCNH2 | n.3426-23C>T c.2593-23C>T (n.2593-23C>T) c.1573-23C>T (n.1573-23C>T) c.2293-23C>T (n.2293-23C>T) c.2443-23C>T (n.2443-23C>T) c.2416-23C>T (n.2416-23C>T) | gnomAD v4 |
7 | g.150948566G>C | CA2685600533 | KCNH2 | n.3426-23C>G c.2593-23C>G (n.2593-23C>G) c.1573-23C>G (n.1573-23C>G) c.2293-23C>G (n.2293-23C>G) c.2443-23C>G (n.2443-23C>G) c.2416-23C>G (n.2416-23C>G) | gnomAD v4 |
7 | g.150948566G>T | CA2685600532 | KCNH2 | n.3426-23C>A c.2593-23C>A (n.2593-23C>A) c.1573-23C>A (n.1573-23C>A) c.2293-23C>A (n.2293-23C>A) c.2443-23C>A (n.2443-23C>A) c.2416-23C>A (n.2416-23C>A) | gnomAD v4 |
7 | g.150948567G>A | CA2579062632 | KCNH2 | n.3426-24C>T c.2593-24C>T (n.2593-24C>T) c.1573-24C>T (n.1573-24C>T) c.2293-24C>T (n.2293-24C>T) c.2443-24C>T (n.2443-24C>T) c.2416-24C>T (n.2416-24C>T) | gnomAD v4 |
7 | g.150948567G>T | CA2685600534 | KCNH2 | n.3426-24C>A c.2593-24C>A (n.2593-24C>A) c.1573-24C>A (n.1573-24C>A) c.2293-24C>A (n.2293-24C>A) c.2443-24C>A (n.2443-24C>A) c.2416-24C>A (n.2416-24C>A) | gnomAD v4 |
7 | g.150948568C>A | CA033245 | KCNH2 | n.3426-25G>T c.2593-25G>T (n.2593-25G>T) c.1573-25G>T (n.1573-25G>T) c.2293-25G>T (n.2293-25G>T) c.2443-25G>T (n.2443-25G>T) c.2416-25G>T (n.2416-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948568C= | CA1752431568 | KCNH2 | n.3426-25G= c.2593-25G= (n.2593-25G=) c.1573-25G= (n.1573-25G=) c.2293-25G= (n.2293-25G=) c.2443-25G= (n.2443-25G=) c.2416-25G= (n.2416-25G=) | |
7 | g.150948568C>T | CA2685600535 | KCNH2 | n.3426-25G>A c.2593-25G>A (n.2593-25G>A) c.1573-25G>A (n.1573-25G>A) c.2293-25G>A (n.2293-25G>A) c.2443-25G>A (n.2443-25G>A) c.2416-25G>A (n.2416-25G>A) | gnomAD v4 |
7 | g.150948569C>A | CA2579062633 | KCNH2 | n.3426-26G>T c.2593-26G>T (n.2593-26G>T) c.1573-26G>T (n.1573-26G>T) c.2293-26G>T (n.2293-26G>T) c.2443-26G>T (n.2443-26G>T) c.2416-26G>T (n.2416-26G>T) | |
7 | g.150948570C= | CA1752431570 | KCNH2 | n.3426-27G= c.2593-27G= (n.2593-27G=) c.1573-27G= (n.1573-27G=) c.2293-27G= (n.2293-27G=) c.2443-27G= (n.2443-27G=) c.2416-27G= (n.2416-27G=) | |
7 | g.150948570C>T | CA169073260 | KCNH2 | n.3426-27G>A c.2593-27G>A (n.2593-27G>A) c.1573-27G>A (n.1573-27G>A) c.2293-27G>A (n.2293-27G>A) c.2443-27G>A (n.2443-27G>A) c.2416-27G>A (n.2416-27G>A) | dbSNP |
7 | g.150948571T>C | CA2685600537 | KCNH2 | n.3426-28A>G c.2593-28A>G (n.2593-28A>G) c.1573-28A>G (n.1573-28A>G) c.2293-28A>G (n.2293-28A>G) c.2443-28A>G (n.2443-28A>G) c.2416-28A>G (n.2416-28A>G) | gnomAD v4 |
7 | g.150948571T>G | CA2685600538 | KCNH2 | n.3426-28A>C c.2593-28A>C (n.2593-28A>C) c.1573-28A>C (n.1573-28A>C) c.2293-28A>C (n.2293-28A>C) c.2443-28A>C (n.2443-28A>C) c.2416-28A>C (n.2416-28A>C) | gnomAD v4 |
7 | g.150948573del | CA2685600536 | KCNH2 | n.3426-28del c.2593-28del (n.2593-28del) c.1573-28del (n.1573-28del) c.2293-28del (n.2293-28del) c.2443-28del (n.2443-28del) c.2416-28del (n.2416-28del) | gnomAD v4 |
7 | g.150948572T>C | CA2685600539 | KCNH2 | n.3426-29A>G c.2593-29A>G (n.2593-29A>G) c.1573-29A>G (n.1573-29A>G) c.2293-29A>G (n.2293-29A>G) c.2443-29A>G (n.2443-29A>G) c.2416-29A>G (n.2416-29A>G) | gnomAD v4 |
7 | g.150948572T>G | CA2579062634 | KCNH2 | n.3426-29A>C c.2593-29A>C (n.2593-29A>C) c.1573-29A>C (n.1573-29A>C) c.2293-29A>C (n.2293-29A>C) c.2443-29A>C (n.2443-29A>C) c.2416-29A>C (n.2416-29A>C) | gnomAD v4 |
7 | g.150948573T>G | CA2685600540 | KCNH2 | n.3426-30A>C c.2593-30A>C (n.2593-30A>C) c.1573-30A>C (n.1573-30A>C) c.2293-30A>C (n.2293-30A>C) c.2443-30A>C (n.2443-30A>C) c.2416-30A>C (n.2416-30A>C) | gnomAD v4 |
7 | g.150948574C>A | CA2512805282 | KCNH2 | n.3426-31G>T c.2593-31G>T (n.2593-31G>T) c.1573-31G>T (n.1573-31G>T) c.2293-31G>T (n.2293-31G>T) c.2443-31G>T (n.2443-31G>T) c.2416-31G>T (n.2416-31G>T) | |
7 | g.150948574C>T | CA2685600541 | KCNH2 | n.3426-31G>A c.2593-31G>A (n.2593-31G>A) c.1573-31G>A (n.1573-31G>A) c.2293-31G>A (n.2293-31G>A) c.2443-31G>A (n.2443-31G>A) c.2416-31G>A (n.2416-31G>A) | gnomAD v4 |
7 | g.150948575A= | CA1752431572 | KCNH2 | n.3426-32T= c.2593-32T= (n.2593-32T=) c.1573-32T= (n.1573-32T=) c.2293-32T= (n.2293-32T=) c.2443-32T= (n.2443-32T=) c.2416-32T= (n.2416-32T=) | |
7 | g.150948575A>G | CA2716102282 | KCNH2 | n.3426-32T>C c.2593-32T>C (n.2593-32T>C) c.1573-32T>C (n.1573-32T>C) c.2293-32T>C (n.2293-32T>C) c.2443-32T>C (n.2443-32T>C) c.2416-32T>C (n.2416-32T>C) | dbSNP |
7 | g.150948575A>T | CA1752431573 | KCNH2 | n.3426-32T>A c.2593-32T>A (n.2593-32T>A) c.1573-32T>A (n.1573-32T>A) c.2293-32T>A (n.2293-32T>A) c.2443-32T>A (n.2443-32T>A) c.2416-32T>A (n.2416-32T>A) | dbSNP |
7 | g.150948576G>C | CA033271 | KCNH2 | n.3426-33C>G c.2593-33C>G (n.2593-33C>G) c.1573-33C>G (n.1573-33C>G) c.2293-33C>G (n.2293-33C>G) c.2443-33C>G (n.2443-33C>G) c.2416-33C>G (n.2416-33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948576G= | CA1752431574 | KCNH2 | n.3426-33C= c.2593-33C= (n.2593-33C=) c.1573-33C= (n.1573-33C=) c.2293-33C= (n.2293-33C=) c.2443-33C= (n.2443-33C=) c.2416-33C= (n.2416-33C=) | |
7 | g.150948576G>T | CA2685600542 | KCNH2 | n.3426-33C>A c.2593-33C>A (n.2593-33C>A) c.1573-33C>A (n.1573-33C>A) c.2293-33C>A (n.2293-33C>A) c.2443-33C>A (n.2443-33C>A) c.2416-33C>A (n.2416-33C>A) | gnomAD v4 |