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.150948944_150948980del | CA645565632 | KCNH2 | n.3303_3339del c.2470_2506del (p.Ala824ThrfsTer?) c.1450_1486del (p.Ala484ThrfsTer?) c.2170_2206del (p.Ala724ThrfsTer?) c.2320_2356del (p.Ala774ThrfsTer?) c.2293_2329del (p.Ala765ThrfsTer?) | COSMIC COSMIC |
7 | g.150948952C>A | CA369855059 | KCNH2 | n.3329G>T c.2496G>T (p.Lys832Asn) c.1476G>T (p.Lys492Asn) c.2196G>T (p.Lys732Asn) c.2346G>T (p.Lys782Asn) c.2319G>T (p.Lys773Asn) | |
7 | g.150948952C>G | CA369855060 | KCNH2 | n.3329G>C c.2496G>C (p.Lys832Asn) c.1476G>C (p.Lys492Asn) c.2196G>C (p.Lys732Asn) c.2346G>C (p.Lys782Asn) c.2319G>C (p.Lys773Asn) | |
7 | g.150948952C>T | CA458645167 | KCNH2 | n.3329G>A c.2496G>A (p.Lys832=) c.1476G>A (p.Lys492=) c.2196G>A (p.Lys732=) c.2346G>A (p.Lys782=) c.2319G>A (p.Lys773=) | |
7 | g.150948953T>A | CA369855066 | KCNH2 | n.3328A>T c.2495A>T (p.Lys832Met) c.1475A>T (p.Lys492Met) c.2195A>T (p.Lys732Met) c.2345A>T (p.Lys782Met) c.2318A>T (p.Lys773Met) | |
7 | g.150948953T>C | CA369855064 | KCNH2 | n.3328A>G c.2495A>G (p.Lys832Arg) c.1475A>G (p.Lys492Arg) c.2195A>G (p.Lys732Arg) c.2345A>G (p.Lys782Arg) c.2318A>G (p.Lys773Arg) | |
7 | g.150948953T>G | CA369855062 | KCNH2 | n.3328A>C c.2495A>C (p.Lys832Thr) c.1475A>C (p.Lys492Thr) c.2195A>C (p.Lys732Thr) c.2345A>C (p.Lys782Thr) c.2318A>C (p.Lys773Thr) | |
7 | g.150948954T>A | CA006840 | KCNH2 | n.3327A>T c.2494A>T (p.Lys832Ter) c.1474A>T (p.Lys492Ter) c.2194A>T (p.Lys732Ter) c.2344A>T (p.Lys782Ter) c.2317A>T (p.Lys773Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.150948954T>C | CA369855068 | KCNH2 | n.3327A>G c.2494A>G (p.Lys832Glu) c.1474A>G (p.Lys492Glu) c.2194A>G (p.Lys732Glu) c.2344A>G (p.Lys782Glu) c.2317A>G (p.Lys773Glu) | |
7 | g.150948954T>G | CA369855070 | KCNH2 | n.3327A>C c.2494A>C (p.Lys832Gln) c.1474A>C (p.Lys492Gln) c.2194A>C (p.Lys732Gln) c.2344A>C (p.Lys782Gln) c.2317A>C (p.Lys773Gln) | |
7 | g.150948954T= | CA1752431961 | KCNH2 | n.3327A= c.2494A= (p.Lys832=) c.1474A= (p.Lys492=) c.2194A= (p.Lys732=) c.2344A= (p.Lys782=) c.2317A= (p.Lys773=) | |
7 | g.150948955G>A | CA458645168 | KCNH2 | n.3326C>T c.2493C>T (p.His831=) c.1473C>T (p.His491=) c.2193C>T (p.His731=) c.2343C>T (p.His781=) c.2316C>T (p.His772=) | gnomAD v4 |
7 | g.150948955G>C | CA369855071 | KCNH2 | n.3326C>G c.2493C>G (p.His831Gln) c.1473C>G (p.His491Gln) c.2193C>G (p.His731Gln) c.2343C>G (p.His781Gln) c.2316C>G (p.His772Gln) | |
7 | g.150948955G>T | CA369855073 | KCNH2 | n.3326C>A c.2493C>A (p.His831Gln) c.1473C>A (p.His491Gln) c.2193C>A (p.His731Gln) c.2343C>A (p.His781Gln) c.2316C>A (p.His772Gln) | |
7 | g.150948956T>A | CA369855078 | KCNH2 | n.3325A>T c.2492A>T (p.His831Leu) c.1472A>T (p.His491Leu) c.2192A>T (p.His731Leu) c.2342A>T (p.His781Leu) c.2315A>T (p.His772Leu) | |
7 | g.150948956T>C | CA369855077 | KCNH2 | n.3325A>G c.2492A>G (p.His831Arg) c.1472A>G (p.His491Arg) c.2192A>G (p.His731Arg) c.2342A>G (p.His781Arg) c.2315A>G (p.His772Arg) | gnomAD v4 |
7 | g.150948956T>G | CA369855075 | KCNH2 | n.3325A>C c.2492A>C (p.His831Pro) c.1472A>C (p.His491Pro) c.2192A>C (p.His731Pro) c.2342A>C (p.His781Pro) c.2315A>C (p.His772Pro) | |
7 | g.150948956_150948966delinsTGTAGGTCACA | CA1752431965 | KCNH2 | n.3315_3325delinsTGTGACCTACA c.2482_2492delinsTGTGACCTACA (p.Cys828=) c.1462_1472delinsTGTGACCTACA (p.Cys488=) c.2182_2192delinsTGTGACCTACA (p.Cys728=) c.2332_2342delinsTGTGACCTACA (p.Cys778=) c.2305_2315delinsTGTGACCTACA (p.Cys769=) | |
7 | g.150948957G>A | CA369855081 | KCNH2 | n.3324C>T c.2491C>T (p.His831Tyr) c.1471C>T (p.His491Tyr) c.2191C>T (p.His731Tyr) c.2341C>T (p.His781Tyr) c.2314C>T (p.His772Tyr) | ClinVar |
7 | g.150948957G>C | CA369855083 | KCNH2 | n.3324C>G c.2491C>G (p.His831Asp) c.1471C>G (p.His491Asp) c.2191C>G (p.His731Asp) c.2341C>G (p.His781Asp) c.2314C>G (p.His772Asp) | |
7 | g.150948957G>T | CA369855084 | KCNH2 | n.3324C>A c.2491C>A (p.His831Asn) c.1471C>A (p.His491Asn) c.2191C>A (p.His731Asn) c.2341C>A (p.His781Asn) c.2314C>A (p.His772Asn) | |
7 | g.150948963_150948972del | CA658797039 | KCNH2 | n.3315_3324del c.2482_2491del (p.Cys828ThrfsTer?) c.1462_1471del (p.Cys488ThrfsTer?) c.2182_2191del (p.Cys728ThrfsTer?) c.2332_2341del (p.Cys778ThrfsTer?) c.2305_2314del (p.Cys769ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150948958T>A | CA458645169 | KCNH2 | n.3323A>T c.2490A>T (p.Leu830=) c.1470A>T (p.Leu490=) c.2190A>T (p.Leu730=) c.2340A>T (p.Leu780=) c.2313A>T (p.Leu771=) | |
7 | g.150948958T>C | CA458645170 | KCNH2 | n.3323A>G c.2490A>G (p.Leu830=) c.1470A>G (p.Leu490=) c.2190A>G (p.Leu730=) c.2340A>G (p.Leu780=) c.2313A>G (p.Leu771=) | |
7 | g.150948958T>G | CA458645171 | KCNH2 | n.3323A>C c.2490A>C (p.Leu830=) c.1470A>C (p.Leu490=) c.2190A>C (p.Leu730=) c.2340A>C (p.Leu780=) c.2313A>C (p.Leu771=) | |
7 | g.150948959A>C | CA369855087 | KCNH2 | n.3322T>G c.2489T>G (p.Leu830Arg) c.1469T>G (p.Leu490Arg) c.2189T>G (p.Leu730Arg) c.2339T>G (p.Leu780Arg) c.2312T>G (p.Leu771Arg) | |
7 | g.150948959A>G | CA369855088 | KCNH2 | n.3322T>C c.2489T>C (p.Leu830Pro) c.1469T>C (p.Leu490Pro) c.2189T>C (p.Leu730Pro) c.2339T>C (p.Leu780Pro) c.2312T>C (p.Leu771Pro) | |
7 | g.150948959A>T | CA369855090 | KCNH2 | n.3322T>A c.2489T>A (p.Leu830Gln) c.1469T>A (p.Leu490Gln) c.2189T>A (p.Leu730Gln) c.2339T>A (p.Leu780Gln) c.2312T>A (p.Leu771Gln) | |
7 | g.150948960G>A | CA032910 | KCNH2 | n.3321C>T c.2488C>T (p.Leu830=) c.1468C>T (p.Leu490=) c.2188C>T (p.Leu730=) c.2338C>T (p.Leu780=) c.2311C>T (p.Leu771=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948960G>C | CA369855093 | KCNH2 | n.3321C>G c.2488C>G (p.Leu830Val) c.1468C>G (p.Leu490Val) c.2188C>G (p.Leu730Val) c.2338C>G (p.Leu780Val) c.2311C>G (p.Leu771Val) | ClinVar gnomAD v4 |
7 | g.150948960G= | CA1752431969 | KCNH2 | n.3321C= c.2488C= (p.Leu830=) c.1468C= (p.Leu490=) c.2188C= (p.Leu730=) c.2338C= (p.Leu780=) c.2311C= (p.Leu771=) | |
7 | g.150948960G>T | CA369855092 | KCNH2 | n.3321C>A c.2488C>A (p.Leu830Ile) c.1468C>A (p.Leu490Ile) c.2188C>A (p.Leu730Ile) c.2338C>A (p.Leu780Ile) c.2311C>A (p.Leu771Ile) | |
7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
7 | g.150948961G>A | CA458645172 | KCNH2 | n.3320C>T c.2487C>T (p.Asp829=) c.1467C>T (p.Asp489=) c.2187C>T (p.Asp729=) c.2337C>T (p.Asp779=) c.2310C>T (p.Asp770=) | |
7 | g.150948961G>C | CA032903 | KCNH2 | n.3320C>G c.2487C>G (p.Asp829Glu) c.1467C>G (p.Asp489Glu) c.2187C>G (p.Asp729Glu) c.2337C>G (p.Asp779Glu) c.2310C>G (p.Asp770Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948961G= | CA1752431970 | KCNH2 | n.3320C= c.2487C= (p.Asp829=) c.1467C= (p.Asp489=) c.2187C= (p.Asp729=) c.2337C= (p.Asp779=) c.2310C= (p.Asp770=) | |
7 | g.150948961G>T | CA369855096 | KCNH2 | n.3320C>A c.2487C>A (p.Asp829Glu) c.1467C>A (p.Asp489Glu) c.2187C>A (p.Asp729Glu) c.2337C>A (p.Asp779Glu) c.2310C>A (p.Asp770Glu) | |
7 | g.150948962T>A | CA369855098 | KCNH2 | n.3319A>T c.2486A>T (p.Asp829Val) c.1466A>T (p.Asp489Val) c.2186A>T (p.Asp729Val) c.2336A>T (p.Asp779Val) c.2309A>T (p.Asp770Val) | |
7 | g.150948962T>C | CA369855100 | KCNH2 | n.3319A>G c.2486A>G (p.Asp829Gly) c.1466A>G (p.Asp489Gly) c.2186A>G (p.Asp729Gly) c.2336A>G (p.Asp779Gly) c.2309A>G (p.Asp770Gly) | COSMIC COSMIC |
7 | g.150948962T>G | CA369855102 | KCNH2 | n.3319A>C c.2486A>C (p.Asp829Ala) c.1466A>C (p.Asp489Ala) c.2186A>C (p.Asp729Ala) c.2336A>C (p.Asp779Ala) c.2309A>C (p.Asp770Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948962T= | CA1752431973 | KCNH2 | n.3319A= c.2486A= (p.Asp829=) c.1466A= (p.Asp489=) c.2186A= (p.Asp729=) c.2336A= (p.Asp779=) c.2309A= (p.Asp770=) | |
7 | g.150948963C>A | CA369855104 | KCNH2 | n.3318G>T c.2485G>T (p.Asp829Tyr) c.1465G>T (p.Asp489Tyr) c.2185G>T (p.Asp729Tyr) c.2335G>T (p.Asp779Tyr) c.2308G>T (p.Asp770Tyr) | |
7 | g.150948963C>G | CA369855106 | KCNH2 | n.3318G>C c.2485G>C (p.Asp829His) c.1465G>C (p.Asp489His) c.2185G>C (p.Asp729His) c.2335G>C (p.Asp779His) c.2308G>C (p.Asp770His) | |
7 | g.150948963C>T | CA369855108 | KCNH2 | n.3318G>A c.2485G>A (p.Asp829Asn) c.1465G>A (p.Asp489Asn) c.2185G>A (p.Asp729Asn) c.2335G>A (p.Asp779Asn) c.2308G>A (p.Asp770Asn) | |
7 | g.150948964A>C | CA369855110 | KCNH2 | n.3317T>G c.2484T>G (p.Cys828Trp) c.1464T>G (p.Cys488Trp) c.2184T>G (p.Cys728Trp) c.2334T>G (p.Cys778Trp) c.2307T>G (p.Cys769Trp) | |
7 | g.150948964A>G | CA458645173 | KCNH2 | n.3317T>C c.2484T>C (p.Cys828=) c.1464T>C (p.Cys488=) c.2184T>C (p.Cys728=) c.2334T>C (p.Cys778=) c.2307T>C (p.Cys769=) | |
7 | g.150948964A>T | CA369855112 | KCNH2 | n.3317T>A c.2484T>A (p.Cys828Ter) c.1464T>A (p.Cys488Ter) c.2184T>A (p.Cys728Ter) c.2334T>A (p.Cys778Ter) c.2307T>A (p.Cys769Ter) | |
7 | g.150948964_150948967del | CA2530854113 | KCNH2 | n.3314_3317del c.2481_2484del (p.Tyr827Ter) c.1461_1464del (p.Tyr487Ter) c.2181_2184del (p.Tyr727Ter) c.2331_2334del (p.Tyr777Ter) c.2304_2307del (p.Tyr768Ter) | |
7 | g.150948965C>A | CA369855117 | KCNH2 | n.3316G>T c.2483G>T (p.Cys828Phe) c.1463G>T (p.Cys488Phe) c.2183G>T (p.Cys728Phe) c.2333G>T (p.Cys778Phe) c.2306G>T (p.Cys769Phe) | |
7 | g.150948965C>G | CA369855116 | KCNH2 | n.3316G>C c.2483G>C (p.Cys828Ser) c.1463G>C (p.Cys488Ser) c.2183G>C (p.Cys728Ser) c.2333G>C (p.Cys778Ser) c.2306G>C (p.Cys769Ser) | |
7 | g.150948965C>T | CA369855114 | KCNH2 | n.3316G>A c.2483G>A (p.Cys828Tyr) c.1463G>A (p.Cys488Tyr) c.2183G>A (p.Cys728Tyr) c.2333G>A (p.Cys778Tyr) c.2306G>A (p.Cys769Tyr) | |
7 | g.150948966A= | CA1752431979 | KCNH2 | n.3315T= c.2482T= (p.Cys828=) c.1462T= (p.Cys488=) c.2182T= (p.Cys728=) c.2332T= (p.Cys778=) c.2305T= (p.Cys769=) | |
7 | g.150948966A>C | CA369855120 | KCNH2 | n.3315T>G c.2482T>G (p.Cys828Gly) c.1462T>G (p.Cys488Gly) c.2182T>G (p.Cys728Gly) c.2332T>G (p.Cys778Gly) c.2305T>G (p.Cys769Gly) | |
7 | g.150948966A>G | CA369855122 | KCNH2 | n.3315T>C c.2482T>C (p.Cys828Arg) c.1462T>C (p.Cys488Arg) c.2182T>C (p.Cys728Arg) c.2332T>C (p.Cys778Arg) c.2305T>C (p.Cys769Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150948966A>T | CA369855121 | KCNH2 | n.3315T>A c.2482T>A (p.Cys828Ser) c.1462T>A (p.Cys488Ser) c.2182T>A (p.Cys728Ser) c.2332T>A (p.Cys778Ser) c.2305T>A (p.Cys769Ser) | ClinVar gnomAD v4 |
7 | g.150948967G>A | CA458645174 | KCNH2 | n.3314C>T c.2481C>T (p.Tyr827=) c.1461C>T (p.Tyr487=) c.2181C>T (p.Tyr727=) c.2331C>T (p.Tyr777=) c.2304C>T (p.Tyr768=) | |
7 | g.150948967G>C | CA369855124 | KCNH2 | n.3314C>G c.2481C>G (p.Tyr827Ter) c.1461C>G (p.Tyr487Ter) c.2181C>G (p.Tyr727Ter) c.2331C>G (p.Tyr777Ter) c.2304C>G (p.Tyr768Ter) | |
7 | g.150948967G>T | CA369855126 | KCNH2 | n.3314C>A c.2481C>A (p.Tyr827Ter) c.1461C>A (p.Tyr487Ter) c.2181C>A (p.Tyr727Ter) c.2331C>A (p.Tyr777Ter) c.2304C>A (p.Tyr768Ter) | |
7 | g.150948968T>A | CA369855128 | KCNH2 | n.3313A>T c.2480A>T (p.Tyr827Phe) c.1460A>T (p.Tyr487Phe) c.2180A>T (p.Tyr727Phe) c.2330A>T (p.Tyr777Phe) c.2303A>T (p.Tyr768Phe) | |
7 | g.150948968T>C | CA369855130 | KCNH2 | n.3313A>G c.2480A>G (p.Tyr827Cys) c.1460A>G (p.Tyr487Cys) c.2180A>G (p.Tyr727Cys) c.2330A>G (p.Tyr777Cys) c.2303A>G (p.Tyr768Cys) | |
7 | g.150948968T>G | CA369855132 | KCNH2 | n.3313A>C c.2480A>C (p.Tyr827Ser) c.1460A>C (p.Tyr487Ser) c.2180A>C (p.Tyr727Ser) c.2330A>C (p.Tyr777Ser) c.2303A>C (p.Tyr768Ser) | |
7 | g.150948969A>C | CA369855134 | KCNH2 | n.3312T>G c.2479T>G (p.Tyr827Asp) c.1459T>G (p.Tyr487Asp) c.2179T>G (p.Tyr727Asp) c.2329T>G (p.Tyr777Asp) c.2302T>G (p.Tyr768Asp) | |
7 | g.150948969A>G | CA369855136 | KCNH2 | n.3312T>C c.2479T>C (p.Tyr827His) c.1459T>C (p.Tyr487His) c.2179T>C (p.Tyr727His) c.2329T>C (p.Tyr777His) c.2302T>C (p.Tyr768His) | |
7 | g.150948969A>T | CA369855137 | KCNH2 | n.3312T>A c.2479T>A (p.Tyr827Asn) c.1459T>A (p.Tyr487Asn) c.2179T>A (p.Tyr727Asn) c.2329T>A (p.Tyr777Asn) c.2302T>A (p.Tyr768Asn) | |
7 | g.150948970G>A | CA032883 | KCNH2 | n.3311C>T c.2478C>T (p.Thr826=) c.1458C>T (p.Thr486=) c.2178C>T (p.Thr726=) c.2328C>T (p.Thr776=) c.2301C>T (p.Thr767=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948970G>C | CA458645175 | KCNH2 | n.3311C>G c.2478C>G (p.Thr826=) c.1458C>G (p.Thr486=) c.2178C>G (p.Thr726=) c.2328C>G (p.Thr776=) c.2301C>G (p.Thr767=) | |
7 | g.150948970G= | CA1752431985 | KCNH2 | n.3311C= c.2478C= (p.Thr826=) c.1458C= (p.Thr486=) c.2178C= (p.Thr726=) c.2328C= (p.Thr776=) c.2301C= (p.Thr767=) | |
7 | g.150948970G>T | CA458645176 | KCNH2 | n.3311C>A c.2478C>A (p.Thr826=) c.1458C>A (p.Thr486=) c.2178C>A (p.Thr726=) c.2328C>A (p.Thr776=) c.2301C>A (p.Thr767=) | |
7 | g.150948971G>A | CA006823 | KCNH2 | n.3310C>T c.2477C>T (p.Thr826Ile) c.1457C>T (p.Thr486Ile) c.2177C>T (p.Thr726Ile) c.2327C>T (p.Thr776Ile) c.2300C>T (p.Thr767Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150948971G>C | CA369855140 | KCNH2 | n.3310C>G c.2477C>G (p.Thr826Ser) c.1457C>G (p.Thr486Ser) c.2177C>G (p.Thr726Ser) c.2327C>G (p.Thr776Ser) c.2300C>G (p.Thr767Ser) | dbSNP |
7 | g.150948971G= | CA1752431987 | KCNH2 | n.3310C= c.2477C= (p.Thr826=) c.1457C= (p.Thr486=) c.2177C= (p.Thr726=) c.2327C= (p.Thr776=) c.2300C= (p.Thr767=) | |
7 | g.150948971G>T | CA369855142 | KCNH2 | n.3310C>A c.2477C>A (p.Thr826Asn) c.1457C>A (p.Thr486Asn) c.2177C>A (p.Thr726Asn) c.2327C>A (p.Thr776Asn) c.2300C>A (p.Thr767Asn) | |
7 | g.150948972T>A | CA369855145 | KCNH2 | n.3309A>T c.2476A>T (p.Thr826Ser) c.1456A>T (p.Thr486Ser) c.2176A>T (p.Thr726Ser) c.2326A>T (p.Thr776Ser) c.2299A>T (p.Thr767Ser) | |
7 | g.150948972T>C | CA369855147 | KCNH2 | n.3309A>G c.2476A>G (p.Thr826Ala) c.1456A>G (p.Thr486Ala) c.2176A>G (p.Thr726Ala) c.2326A>G (p.Thr776Ala) c.2299A>G (p.Thr767Ala) | gnomAD v4 |
7 | g.150948972T>G | CA369855146 | KCNH2 | n.3309A>C c.2476A>C (p.Thr826Pro) c.1456A>C (p.Thr486Pro) c.2176A>C (p.Thr726Pro) c.2326A>C (p.Thr776Pro) c.2299A>C (p.Thr767Pro) | |
7 | g.150948973G>A | CA169074818 | KCNH2 | n.3308C>T c.2475C>T (p.Leu825=) c.1455C>T (p.Leu485=) c.2175C>T (p.Leu725=) c.2325C>T (p.Leu775=) c.2298C>T (p.Leu766=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948973G>C | CA458645177 | KCNH2 | n.3308C>G c.2475C>G (p.Leu825=) c.1455C>G (p.Leu485=) c.2175C>G (p.Leu725=) c.2325C>G (p.Leu775=) c.2298C>G (p.Leu766=) | |
7 | g.150948973G= | CA1752431992 | KCNH2 | n.3308C= c.2475C= (p.Leu825=) c.1455C= (p.Leu485=) c.2175C= (p.Leu725=) c.2325C= (p.Leu775=) c.2298C= (p.Leu766=) | |
7 | g.150948973G>T | CA458645178 | KCNH2 | n.3308C>A c.2475C>A (p.Leu825=) c.1455C>A (p.Leu485=) c.2175C>A (p.Leu725=) c.2325C>A (p.Leu775=) c.2298C>A (p.Leu766=) | |
7 | g.150948974_150948975del | CA2507623695 | KCNH2 | n.3307_3308del c.2474_2475del (p.Leu825HisfsTer4) c.1454_1455del (p.Leu485HisfsTer4) c.2174_2175del (p.Leu725HisfsTer4) c.2324_2325del (p.Leu775HisfsTer4) c.2297_2298del (p.Leu766HisfsTer4) | |
7 | g.150948974A>C | CA369855151 | KCNH2 | n.3307T>G c.2474T>G (p.Leu825Arg) c.1454T>G (p.Leu485Arg) c.2174T>G (p.Leu725Arg) c.2324T>G (p.Leu775Arg) c.2297T>G (p.Leu766Arg) | |
7 | g.150948974A>G | CA369855153 | KCNH2 | n.3307T>C c.2474T>C (p.Leu825Pro) c.1454T>C (p.Leu485Pro) c.2174T>C (p.Leu725Pro) c.2324T>C (p.Leu775Pro) c.2297T>C (p.Leu766Pro) | |
7 | g.150948974A>T | CA369855154 | KCNH2 | n.3307T>A c.2474T>A (p.Leu825His) c.1454T>A (p.Leu485His) c.2174T>A (p.Leu725His) c.2324T>A (p.Leu775His) c.2297T>A (p.Leu766His) | |
7 | g.150948975_150948983dup | CA1139660303 | KCNH2 | n.3299_3307dup c.2466_2474dup (p.Leu825_Thr826insArgAlaLeu) c.1446_1454dup (p.Leu485_Thr486insArgAlaLeu) c.2166_2174dup (p.Leu725_Thr726insArgAlaLeu) c.2316_2324dup (p.Leu775_Thr776insArgAlaLeu) c.2289_2297dup (p.Leu766_Thr767insArgAlaLeu) | ClinVar dbSNP |
7 | g.150948975G>A | CA369855156 | KCNH2 | n.3306C>T c.2473C>T (p.Leu825Phe) c.1453C>T (p.Leu485Phe) c.2173C>T (p.Leu725Phe) c.2323C>T (p.Leu775Phe) c.2296C>T (p.Leu766Phe) | |
7 | g.150948975G>C | CA369855157 | KCNH2 | n.3306C>G c.2473C>G (p.Leu825Val) c.1453C>G (p.Leu485Val) c.2173C>G (p.Leu725Val) c.2323C>G (p.Leu775Val) c.2296C>G (p.Leu766Val) | |
7 | g.150948975G>T | CA369855158 | KCNH2 | n.3306C>A c.2473C>A (p.Leu825Ile) c.1453C>A (p.Leu485Ile) c.2173C>A (p.Leu725Ile) c.2323C>A (p.Leu775Ile) c.2296C>A (p.Leu766Ile) | |
7 | g.150948976G>A | CA458645179 | KCNH2 | n.3305C>T c.2472C>T (p.Ala824=) c.1452C>T (p.Ala484=) c.2172C>T (p.Ala724=) c.2322C>T (p.Ala774=) c.2295C>T (p.Ala765=) | ClinVar |
7 | g.150948976G>C | CA458645180 | KCNH2 | n.3305C>G c.2472C>G (p.Ala824=) c.1452C>G (p.Ala484=) c.2172C>G (p.Ala724=) c.2322C>G (p.Ala774=) c.2295C>G (p.Ala765=) | gnomAD v4 |
7 | g.150948976G>T | CA458645181 | KCNH2 | n.3305C>A c.2472C>A (p.Ala824=) c.1452C>A (p.Ala484=) c.2172C>A (p.Ala724=) c.2322C>A (p.Ala774=) c.2295C>A (p.Ala765=) | |
7 | g.150948977G>A | CA369855159 | KCNH2 | n.3304C>T c.2471C>T (p.Ala824Val) c.1451C>T (p.Ala484Val) c.2171C>T (p.Ala724Val) c.2321C>T (p.Ala774Val) c.2294C>T (p.Ala765Val) | |
7 | g.150948977G>C | CA369855160 | KCNH2 | n.3304C>G c.2471C>G (p.Ala824Gly) c.1451C>G (p.Ala484Gly) c.2171C>G (p.Ala724Gly) c.2321C>G (p.Ala774Gly) c.2294C>G (p.Ala765Gly) | |
7 | g.150948977G>T | CA369855162 | KCNH2 | n.3304C>A c.2471C>A (p.Ala824Asp) c.1451C>A (p.Ala484Asp) c.2171C>A (p.Ala724Asp) c.2321C>A (p.Ala774Asp) c.2294C>A (p.Ala765Asp) | |
7 | g.150948977_150948978delinsGC | CA1752431999 | KCNH2 | n.3303_3304delinsGC c.2470_2471delinsGC (p.Ala824=) c.1450_1451delinsGC (p.Ala484=) c.2170_2171delinsGC (p.Ala724=) c.2320_2321delinsGC (p.Ala774=) c.2293_2294delinsGC (p.Ala765=) | |
7 | g.150948978C>A | CA369855166 | KCNH2 | n.3303G>T c.2470G>T (p.Ala824Ser) c.1450G>T (p.Ala484Ser) c.2170G>T (p.Ala724Ser) c.2320G>T (p.Ala774Ser) c.2293G>T (p.Ala765Ser) | |
7 | g.150948978C>G | CA369855168 | KCNH2 | n.3303G>C c.2470G>C (p.Ala824Pro) c.1450G>C (p.Ala484Pro) c.2170G>C (p.Ala724Pro) c.2320G>C (p.Ala774Pro) c.2293G>C (p.Ala765Pro) | |
7 | g.150948978C>T | CA369855164 | KCNH2 | n.3303G>A c.2470G>A (p.Ala824Thr) c.1450G>A (p.Ala484Thr) c.2170G>A (p.Ala724Thr) c.2320G>A (p.Ala774Thr) c.2293G>A (p.Ala765Thr) | |
7 | g.150948980dup | CA2695208827 | KCNH2 | n.3303dup c.2470dup (p.Ala824GlyfsTer6) c.1450dup (p.Ala484GlyfsTer6) c.2170dup (p.Ala724GlyfsTer6) c.2320dup (p.Ala774GlyfsTer6) c.2293dup (p.Ala765GlyfsTer6) | |
7 | g.150948980del | CA16618402 | KCNH2 | n.3303del c.2470del (p.Ala824ProfsTer?) c.1450del (p.Ala484ProfsTer?) c.2170del (p.Ala724ProfsTer?) c.2320del (p.Ala774ProfsTer?) c.2293del (p.Ala765ProfsTer?) | ClinVar dbSNP |
7 | g.150948978_150948979insG | CA2514231751 | KCNH2 | n.3302_3303insC c.2469_2470insC (p.Ala824ArgfsTer6) c.1449_1450insC (p.Ala484ArgfsTer6) c.2169_2170insC (p.Ala724ArgfsTer6) c.2319_2320insC (p.Ala774ArgfsTer6) c.2292_2293insC (p.Ala765ArgfsTer6) | |
7 | g.150948979C>A | CA458645182 | KCNH2 | n.3302G>T c.2469G>T (p.Arg823=) c.1449G>T (p.Arg483=) c.2169G>T (p.Arg723=) c.2319G>T (p.Arg773=) c.2292G>T (p.Arg764=) | |
7 | g.150948979C>G | CA458645183 | KCNH2 | n.3302G>C c.2469G>C (p.Arg823=) c.1449G>C (p.Arg483=) c.2169G>C (p.Arg723=) c.2319G>C (p.Arg773=) c.2292G>C (p.Arg764=) | |
7 | g.150948979C>T | CA458645184 | KCNH2 | n.3302G>A c.2469G>A (p.Arg823=) c.1449G>A (p.Arg483=) c.2169G>A (p.Arg723=) c.2319G>A (p.Arg773=) c.2292G>A (p.Arg764=) | COSMIC COSMIC |
7 | g.150948980C>A | CA369855170 | KCNH2 | n.3301G>T c.2468G>T (p.Arg823Leu) c.1448G>T (p.Arg483Leu) c.2168G>T (p.Arg723Leu) c.2318G>T (p.Arg773Leu) c.2291G>T (p.Arg764Leu) | ClinVar gnomAD v4 |
7 | g.150948980C= | CA1752432004 | KCNH2 | n.3301G= c.2468G= (p.Arg823=) c.1448G= (p.Arg483=) c.2168G= (p.Arg723=) c.2318G= (p.Arg773=) c.2291G= (p.Arg764=) | |
7 | g.150948980C>G | CA369855171 | KCNH2 | n.3301G>C c.2468G>C (p.Arg823Pro) c.1448G>C (p.Arg483Pro) c.2168G>C (p.Arg723Pro) c.2318G>C (p.Arg773Pro) c.2291G>C (p.Arg764Pro) | ClinVar dbSNP |
7 | g.150948980C>T | CA16618403 | KCNH2 | n.3301G>A c.2468G>A (p.Arg823Gln) c.1448G>A (p.Arg483Gln) c.2168G>A (p.Arg723Gln) c.2318G>A (p.Arg773Gln) c.2291G>A (p.Arg764Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.150948981G>A | CA006812 | KCNH2 | n.3300C>T c.2467C>T (p.Arg823Trp) c.1447C>T (p.Arg483Trp) c.2167C>T (p.Arg723Trp) c.2317C>T (p.Arg773Trp) c.2290C>T (p.Arg764Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948981G>C | CA369855174 | KCNH2 | n.3300C>G c.2467C>G (p.Arg823Gly) c.1447C>G (p.Arg483Gly) c.2167C>G (p.Arg723Gly) c.2317C>G (p.Arg773Gly) c.2290C>G (p.Arg764Gly) | |
7 | g.150948981G= | CA1752432008 | KCNH2 | n.3300C= c.2467C= (p.Arg823=) c.1447C= (p.Arg483=) c.2167C= (p.Arg723=) c.2317C= (p.Arg773=) c.2290C= (p.Arg764=) | |
7 | g.150948981G>T | CA458645185 | KCNH2 | n.3300C>A c.2467C>A (p.Arg823=) c.1447C>A (p.Arg483=) c.2167C>A (p.Arg723=) c.2317C>A (p.Arg773=) c.2290C>A (p.Arg764=) | |
7 | g.150948982C>A | CA458645186 | KCNH2 | n.3299G>T c.2466G>T (p.Val822=) c.1446G>T (p.Val482=) c.2166G>T (p.Val722=) c.2316G>T (p.Val772=) c.2289G>T (p.Val763=) | |
7 | g.150948982C= | CA1752432013 | KCNH2 | n.3299G= c.2466G= (p.Val822=) c.1446G= (p.Val482=) c.2166G= (p.Val722=) c.2316G= (p.Val772=) c.2289G= (p.Val763=) | |
7 | g.150948982C>G | CA032868 | KCNH2 | n.3299G>C c.2466G>C (p.Val822=) c.1446G>C (p.Val482=) c.2166G>C (p.Val722=) c.2316G>C (p.Val772=) c.2289G>C (p.Val763=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948982C>T | CA458645187 | KCNH2 | n.3299G>A c.2466G>A (p.Val822=) c.1446G>A (p.Val482=) c.2166G>A (p.Val722=) c.2316G>A (p.Val772=) c.2289G>A (p.Val763=) | |
7 | g.150948983A>C | CA369855181 | KCNH2 | n.3298T>G c.2465T>G (p.Val822Gly) c.1445T>G (p.Val482Gly) c.2165T>G (p.Val722Gly) c.2315T>G (p.Val772Gly) c.2288T>G (p.Val763Gly) | |
7 | g.150948983A>G | CA369855178 | KCNH2 | n.3298T>C c.2465T>C (p.Val822Ala) c.1445T>C (p.Val482Ala) c.2165T>C (p.Val722Ala) c.2315T>C (p.Val772Ala) c.2288T>C (p.Val763Ala) | ClinVar |
7 | g.150948983A>T | CA369855179 | KCNH2 | n.3298T>A c.2465T>A (p.Val822Glu) c.1445T>A (p.Val482Glu) c.2165T>A (p.Val722Glu) c.2315T>A (p.Val772Glu) c.2288T>A (p.Val763Glu) | |
7 | g.150948983_150948986delinsCCCTC | CA2695208828 | KCNH2 | n.3295_3298delinsGAGGG c.2462_2465delinsGAGGG (p.Asp821GlyfsTer9) c.1442_1445delinsGAGGG (p.Asp481GlyfsTer9) c.2162_2165delinsGAGGG (p.Asp721GlyfsTer9) c.2312_2315delinsGAGGG (p.Asp771GlyfsTer9) c.2285_2288delinsGAGGG (p.Asp762GlyfsTer9) | |
7 | g.150948983_150948984insT | CA2502903432 | KCNH2 | n.3297_3298insA c.2464_2465insA (p.Val822AspfsTer8) c.1444_1445insA (p.Val482AspfsTer8) c.2164_2165insA (p.Val722AspfsTer8) c.2314_2315insA (p.Val772AspfsTer8) c.2287_2288insA (p.Val763AspfsTer8) | |
7 | g.150948984C>A | CA369855183 | KCNH2 | n.3297G>T c.2464G>T (p.Val822Leu) c.1444G>T (p.Val482Leu) c.2164G>T (p.Val722Leu) c.2314G>T (p.Val772Leu) c.2287G>T (p.Val763Leu) | |
7 | g.150948984C= | CA1752432020 | KCNH2 | n.3297G= c.2464G= (p.Val822=) c.1444G= (p.Val482=) c.2164G= (p.Val722=) c.2314G= (p.Val772=) c.2287G= (p.Val763=) | |
7 | g.150948984C>G | CA006804 | KCNH2 | n.3297G>C c.2464G>C (p.Val822Leu) c.1444G>C (p.Val482Leu) c.2164G>C (p.Val722Leu) c.2314G>C (p.Val772Leu) c.2287G>C (p.Val763Leu) | ClinVar dbSNP |
7 | g.150948984C>T | CA006796 | KCNH2 | n.3297G>A c.2464G>A (p.Val822Met) c.1444G>A (p.Val482Met) c.2164G>A (p.Val722Met) c.2314G>A (p.Val772Met) c.2287G>A (p.Val763Met) | ClinVar dbSNP |
7 | g.150948985A= | CA1752432021 | KCNH2 | n.3296T= c.2463T= (p.Asp821=) c.1443T= (p.Asp481=) c.2163T= (p.Asp721=) c.2313T= (p.Asp771=) c.2286T= (p.Asp762=) | |
7 | g.150948985A>C | CA369855187 | KCNH2 | n.3296T>G c.2463T>G (p.Asp821Glu) c.1443T>G (p.Asp481Glu) c.2163T>G (p.Asp721Glu) c.2313T>G (p.Asp771Glu) c.2286T>G (p.Asp762Glu) | |
7 | g.150948985A>G | CA458645188 | KCNH2 | n.3296T>C c.2463T>C (p.Asp821=) c.1443T>C (p.Asp481=) c.2163T>C (p.Asp721=) c.2313T>C (p.Asp771=) c.2286T>C (p.Asp762=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948985A>T | CA369855189 | KCNH2 | n.3296T>A c.2463T>A (p.Asp821Glu) c.1443T>A (p.Asp481Glu) c.2163T>A (p.Asp721Glu) c.2313T>A (p.Asp771Glu) c.2286T>A (p.Asp762Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948986T>A | CA369855191 | KCNH2 | n.3295A>T c.2462A>T (p.Asp821Val) c.1442A>T (p.Asp481Val) c.2162A>T (p.Asp721Val) c.2312A>T (p.Asp771Val) c.2285A>T (p.Asp762Val) | ClinVar dbSNP |
7 | g.150948986T>C | CA369855193 | KCNH2 | n.3295A>G c.2462A>G (p.Asp821Gly) c.1442A>G (p.Asp481Gly) c.2162A>G (p.Asp721Gly) c.2312A>G (p.Asp771Gly) c.2285A>G (p.Asp762Gly) | |
7 | g.150948986T>G | CA369855192 | KCNH2 | n.3295A>C c.2462A>C (p.Asp821Ala) c.1442A>C (p.Asp481Ala) c.2162A>C (p.Asp721Ala) c.2312A>C (p.Asp771Ala) c.2285A>C (p.Asp762Ala) | |
7 | g.150948987C>A | CA369855196 | KCNH2 | n.3294G>T c.2461G>T (p.Asp821Tyr) c.1441G>T (p.Asp481Tyr) c.2161G>T (p.Asp721Tyr) c.2311G>T (p.Asp771Tyr) c.2284G>T (p.Asp762Tyr) | |
7 | g.150948987C>G | CA369855198 | KCNH2 | n.3294G>C c.2461G>C (p.Asp821His) c.1441G>C (p.Asp481His) c.2161G>C (p.Asp721His) c.2311G>C (p.Asp771His) c.2284G>C (p.Asp762His) | |
7 | g.150948987C>T | CA369855199 | KCNH2 | n.3294G>A c.2461G>A (p.Asp821Asn) c.1441G>A (p.Asp481Asn) c.2161G>A (p.Asp721Asn) c.2311G>A (p.Asp771Asn) c.2284G>A (p.Asp762Asn) | |
7 | g.150948988_150948990del | CA2561770020 | KCNH2 | n.3292_3294del c.2459_2461del (p.Gly820del) c.1439_1441del (p.Gly480del) c.2159_2161del (p.Gly720del) c.2309_2311del (p.Gly770del) c.2282_2284del (p.Gly761del) | |
7 | g.150948988C>A | CA458645189 | KCNH2 | n.3293G>T c.2460G>T (p.Gly820=) c.1440G>T (p.Gly480=) c.2160G>T (p.Gly720=) c.2310G>T (p.Gly770=) c.2283G>T (p.Gly761=) | |
7 | g.150948988C>G | CA458645190 | KCNH2 | n.3293G>C c.2460G>C (p.Gly820=) c.1440G>C (p.Gly480=) c.2160G>C (p.Gly720=) c.2310G>C (p.Gly770=) c.2283G>C (p.Gly761=) | ClinVar gnomAD v4 |
7 | g.150948988C>T | CA458645191 | KCNH2 | n.3293G>A c.2460G>A (p.Gly820=) c.1440G>A (p.Gly480=) c.2160G>A (p.Gly720=) c.2310G>A (p.Gly770=) c.2283G>A (p.Gly761=) | dbSNP |
7 | g.150948989C>A | CA369855201 | KCNH2 | n.3292G>T c.2459G>T (p.Gly820Val) c.1439G>T (p.Gly480Val) c.2159G>T (p.Gly720Val) c.2309G>T (p.Gly770Val) c.2282G>T (p.Gly761Val) | |
7 | g.150948989C>G | CA369855203 | KCNH2 | n.3292G>C c.2459G>C (p.Gly820Ala) c.1439G>C (p.Gly480Ala) c.2159G>C (p.Gly720Ala) c.2309G>C (p.Gly770Ala) c.2282G>C (p.Gly761Ala) | |
7 | g.150948989C>T | CA369855205 | KCNH2 | n.3292G>A c.2459G>A (p.Gly820Glu) c.1439G>A (p.Gly480Glu) c.2159G>A (p.Gly720Glu) c.2309G>A (p.Gly770Glu) c.2282G>A (p.Gly761Glu) | ClinVar gnomAD v4 |
7 | g.150948989_150948990insTAAAAAA | CA2567851703 | KCNH2 | n.3291_3292insTTTTTTA c.2458_2459insTTTTTTA (p.Gly820ValfsTer3) c.1438_1439insTTTTTTA (p.Gly480ValfsTer3) c.2158_2159insTTTTTTA (p.Gly720ValfsTer3) c.2308_2309insTTTTTTA (p.Gly770ValfsTer3) c.2281_2282insTTTTTTA (p.Gly761ValfsTer3) | |
7 | g.150948989_150948990insAGGCCCTTGCATACA | CA2573141857 | KCNH2 | n.3291_3292insTGTATGCAAGGGCCT c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp) c.1438_1439insTGTATGCAAGGGCCT (p.Gly480delinsValTyrAlaArgAlaTrp) c.2158_2159insTGTATGCAAGGGCCT (p.Gly720delinsValTyrAlaArgAlaTrp) c.2308_2309insTGTATGCAAGGGCCT (p.Gly770delinsValTyrAlaArgAlaTrp) c.2281_2282insTGTATGCAAGGGCCT (p.Gly761delinsValTyrAlaArgAlaTrp) | ClinVar dbSNP |
7 | g.150948990C>A | CA369855207 | KCNH2 | n.3291G>T c.2458G>T (p.Gly820Trp) c.1438G>T (p.Gly480Trp) c.2158G>T (p.Gly720Trp) c.2308G>T (p.Gly770Trp) c.2281G>T (p.Gly761Trp) | |
7 | g.150948990C= | CA1752432024 | KCNH2 | n.3291G= c.2458G= (p.Gly820=) c.1438G= (p.Gly480=) c.2158G= (p.Gly720=) c.2308G= (p.Gly770=) c.2281G= (p.Gly761=) | |
7 | g.150948990C>G | CA369855209 | KCNH2 | n.3291G>C c.2458G>C (p.Gly820Arg) c.1438G>C (p.Gly480Arg) c.2158G>C (p.Gly720Arg) c.2308G>C (p.Gly770Arg) c.2281G>C (p.Gly761Arg) | ClinVar |
7 | g.150948990C>T | CA006787 | KCNH2 | n.3291G>A c.2458G>A (p.Gly820Arg) c.1438G>A (p.Gly480Arg) c.2158G>A (p.Gly720Arg) c.2308G>A (p.Gly770Arg) c.2281G>A (p.Gly761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.150948991G>A | CA032843 | KCNH2 | n.3290C>T c.2457C>T (p.Asn819=) c.1437C>T (p.Asn479=) c.2157C>T (p.Asn719=) c.2307C>T (p.Asn769=) c.2280C>T (p.Asn760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948991G>C | CA169074833 | KCNH2 | n.3290C>G c.2457C>G (p.Asn819Lys) c.1437C>G (p.Asn479Lys) c.2157C>G (p.Asn719Lys) c.2307C>G (p.Asn769Lys) c.2280C>G (p.Asn760Lys) | ClinVar dbSNP |
7 | g.150948991G= | CA1752432026 | KCNH2 | n.3290C= c.2457C= (p.Asn819=) c.1437C= (p.Asn479=) c.2157C= (p.Asn719=) c.2307C= (p.Asn769=) c.2280C= (p.Asn760=) | |
7 | g.150948991G>T | CA369855213 | KCNH2 | n.3290C>A c.2457C>A (p.Asn819Lys) c.1437C>A (p.Asn479Lys) c.2157C>A (p.Asn719Lys) c.2307C>A (p.Asn769Lys) c.2280C>A (p.Asn760Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948991_150948992delinsGT | CA1752432030 | KCNH2 | n.3289_3290delinsAC c.2456_2457delinsAC (p.Asn819=) c.1436_1437delinsAC (p.Asn479=) c.2156_2157delinsAC (p.Asn719=) c.2306_2307delinsAC (p.Asn769=) c.2279_2280delinsAC (p.Asn760=) | |
7 | g.150948992T>A | CA369855219 | KCNH2 | n.3289A>T c.2456A>T (p.Asn819Ile) c.1436A>T (p.Asn479Ile) c.2156A>T (p.Asn719Ile) c.2306A>T (p.Asn769Ile) c.2279A>T (p.Asn760Ile) | |
7 | g.150948992T>C | CA369855221 | KCNH2 | n.3289A>G c.2456A>G (p.Asn819Ser) c.1436A>G (p.Asn479Ser) c.2156A>G (p.Asn719Ser) c.2306A>G (p.Asn769Ser) c.2279A>G (p.Asn760Ser) | |
7 | g.150948992T>G | CA369855217 | KCNH2 | n.3289A>C c.2456A>C (p.Asn819Thr) c.1436A>C (p.Asn479Thr) c.2156A>C (p.Asn719Thr) c.2306A>C (p.Asn769Thr) c.2279A>C (p.Asn760Thr) | |
7 | g.150948993del | CA006779 | KCNH2 | n.3289del c.2456del (p.Asn819ThrfsTer?) c.1436del (p.Asn479ThrfsTer?) c.2156del (p.Asn719ThrfsTer?) c.2306del (p.Asn769ThrfsTer?) c.2279del (p.Asn760ThrfsTer?) | ClinVar dbSNP |
7 | g.150948993T>A | CA369855223 | KCNH2 | n.3288A>T c.2455A>T (p.Asn819Tyr) c.1435A>T (p.Asn479Tyr) c.2155A>T (p.Asn719Tyr) c.2305A>T (p.Asn769Tyr) c.2278A>T (p.Asn760Tyr) | |
7 | g.150948993T>C | CA369855225 | KCNH2 | n.3288A>G c.2455A>G (p.Asn819Asp) c.1435A>G (p.Asn479Asp) c.2155A>G (p.Asn719Asp) c.2305A>G (p.Asn769Asp) c.2278A>G (p.Asn760Asp) | |
7 | g.150948993T>G | CA369855227 | KCNH2 | n.3288A>C c.2455A>C (p.Asn819His) c.1435A>C (p.Asn479His) c.2155A>C (p.Asn719His) c.2305A>C (p.Asn769His) c.2278A>C (p.Asn760His) | |
7 | g.150948994C>A | CA169074843 | KCNH2 | n.3287G>T c.2454G>T (p.Ser818=) c.1434G>T (p.Ser478=) c.2154G>T (p.Ser718=) c.2304G>T (p.Ser768=) c.2277G>T (p.Ser759=) | dbSNP |
7 | g.150948994C= | CA1752432035 | KCNH2 | n.3287G= c.2454G= (p.Ser818=) c.1434G= (p.Ser478=) c.2154G= (p.Ser718=) c.2304G= (p.Ser768=) c.2277G= (p.Ser759=) | |
7 | g.150948994C>G | CA032829 | KCNH2 | n.3287G>C c.2454G>C (p.Ser818=) c.1434G>C (p.Ser478=) c.2154G>C (p.Ser718=) c.2304G>C (p.Ser768=) c.2277G>C (p.Ser759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948994C>T | CA006771 | KCNH2 | n.3287G>A c.2454G>A (p.Ser818=) c.1434G>A (p.Ser478=) c.2154G>A (p.Ser718=) c.2304G>A (p.Ser768=) c.2277G>A (p.Ser759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948995G>A | CA006763 | KCNH2 | n.3286C>T c.2453C>T (p.Ser818Leu) c.1433C>T (p.Ser478Leu) c.2153C>T (p.Ser718Leu) c.2303C>T (p.Ser768Leu) c.2276C>T (p.Ser759Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948995G>C | CA369855233 | KCNH2 | n.3286C>G c.2453C>G (p.Ser818Trp) c.1433C>G (p.Ser478Trp) c.2153C>G (p.Ser718Trp) c.2303C>G (p.Ser768Trp) c.2276C>G (p.Ser759Trp) | ClinVar COSMIC |
7 | g.150948995G= | CA1752432041 | KCNH2 | n.3286C= c.2453C= (p.Ser818=) c.1433C= (p.Ser478=) c.2153C= (p.Ser718=) c.2303C= (p.Ser768=) c.2276C= (p.Ser759=) | |
7 | g.150948995G>T | CA369855235 | KCNH2 | n.3286C>A c.2453C>A (p.Ser818Ter) c.1433C>A (p.Ser478Ter) c.2153C>A (p.Ser718Ter) c.2303C>A (p.Ser768Ter) c.2276C>A (p.Ser759Ter) | |
7 | g.150948996A= | CA1752432044 | KCNH2 | n.3285T= c.2452T= (p.Ser818=) c.1432T= (p.Ser478=) c.2152T= (p.Ser718=) c.2302T= (p.Ser768=) c.2275T= (p.Ser759=) | |
7 | g.150948996A>C | CA369855238 | KCNH2 | n.3285T>G c.2452T>G (p.Ser818Ala) c.1432T>G (p.Ser478Ala) c.2152T>G (p.Ser718Ala) c.2302T>G (p.Ser768Ala) c.2275T>G (p.Ser759Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948996A>G | CA006757 | KCNH2 | n.3285T>C c.2452T>C (p.Ser818Pro) c.1432T>C (p.Ser478Pro) c.2152T>C (p.Ser718Pro) c.2302T>C (p.Ser768Pro) c.2275T>C (p.Ser759Pro) | ClinVar dbSNP |
7 | g.150948996A>T | CA369855240 | KCNH2 | n.3285T>A c.2452T>A (p.Ser818Thr) c.1432T>A (p.Ser478Thr) c.2152T>A (p.Ser718Thr) c.2302T>A (p.Ser768Thr) c.2275T>A (p.Ser759Thr) | |
7 | g.150948996_150949006delinsACTTGCCAGGC | CA1752432047 | KCNH2 | n.3275_3285delinsGCCTGGCAAGT c.2442_2452delinsGCCTGGCAAGT (p.Arg814=) c.1422_1432delinsGCCTGGCAAGT (p.Arg474=) c.2142_2152delinsGCCTGGCAAGT (p.Arg714=) c.2292_2302delinsGCCTGGCAAGT (p.Arg764=) c.2265_2275delinsGCCTGGCAAGT (p.Arg755=) | |
7 | g.150948997C>A | CA369855243 | KCNH2 | n.3284G>T c.2451G>T (p.Lys817Asn) c.1431G>T (p.Lys477Asn) c.2151G>T (p.Lys717Asn) c.2301G>T (p.Lys767Asn) c.2274G>T (p.Lys758Asn) | |
7 | g.150948997C>G | CA369855245 | KCNH2 | n.3284G>C c.2451G>C (p.Lys817Asn) c.1431G>C (p.Lys477Asn) c.2151G>C (p.Lys717Asn) c.2301G>C (p.Lys767Asn) c.2274G>C (p.Lys758Asn) | |
7 | g.150948997C>T | CA458645192 | KCNH2 | n.3284G>A c.2451G>A (p.Lys817=) c.1431G>A (p.Lys477=) c.2151G>A (p.Lys717=) c.2301G>A (p.Lys767=) c.2274G>A (p.Lys758=) | |
7 | g.150949002_150949011del | CA658797040 | KCNH2 | n.3275_3284del c.2442_2451del (p.Arg814SerfsTer?) c.1422_1431del (p.Arg474SerfsTer?) c.2142_2151del (p.Arg714SerfsTer?) c.2292_2301del (p.Arg764SerfsTer?) c.2265_2274del (p.Arg755SerfsTer?) | ClinVar dbSNP |
7 | g.150948998T>A | CA369855251 | KCNH2 | n.3283A>T c.2450A>T (p.Lys817Met) c.1430A>T (p.Lys477Met) c.2150A>T (p.Lys717Met) c.2300A>T (p.Lys767Met) c.2273A>T (p.Lys758Met) | |
7 | g.150948998T>C | CA369855247 | KCNH2 | n.3283A>G c.2450A>G (p.Lys817Arg) c.1430A>G (p.Lys477Arg) c.2150A>G (p.Lys717Arg) c.2300A>G (p.Lys767Arg) c.2273A>G (p.Lys758Arg) | COSMIC COSMIC |
7 | g.150948998T>G | CA369855249 | KCNH2 | n.3283A>C c.2450A>C (p.Lys817Thr) c.1430A>C (p.Lys477Thr) c.2150A>C (p.Lys717Thr) c.2300A>C (p.Lys767Thr) c.2273A>C (p.Lys758Thr) | |
7 | g.150948999T>A | CA369855253 | KCNH2 | n.3282A>T c.2449A>T (p.Lys817Ter) c.1429A>T (p.Lys477Ter) c.2149A>T (p.Lys717Ter) c.2299A>T (p.Lys767Ter) c.2272A>T (p.Lys758Ter) | |
7 | g.150948999T>C | CA369855254 | KCNH2 | n.3282A>G c.2449A>G (p.Lys817Glu) c.1429A>G (p.Lys477Glu) c.2149A>G (p.Lys717Glu) c.2299A>G (p.Lys767Glu) c.2272A>G (p.Lys758Glu) | |
7 | g.150948999T>G | CA369855255 | KCNH2 | n.3282A>C c.2449A>C (p.Lys817Gln) c.1429A>C (p.Lys477Gln) c.2149A>C (p.Lys717Gln) c.2299A>C (p.Lys767Gln) c.2272A>C (p.Lys758Gln) | |
7 | g.150949000G>A | CA458645193 | KCNH2 | n.3281C>T c.2448C>T (p.Gly816=) c.1428C>T (p.Gly476=) c.2148C>T (p.Gly716=) c.2298C>T (p.Gly766=) c.2271C>T (p.Gly757=) | |
7 | g.150949000G>C | CA169074886 | KCNH2 | n.3281C>G c.2448C>G (p.Gly816=) c.1428C>G (p.Gly476=) c.2148C>G (p.Gly716=) c.2298C>G (p.Gly766=) c.2271C>G (p.Gly757=) | ClinVar dbSNP gnomAD v4 |
7 | g.150949000G= | CA1752432052 | KCNH2 | n.3281C= c.2448C= (p.Gly816=) c.1428C= (p.Gly476=) c.2148C= (p.Gly716=) c.2298C= (p.Gly766=) c.2271C= (p.Gly757=) | |
7 | g.150949000G>T | CA458645194 | KCNH2 | n.3281C>A c.2448C>A (p.Gly816=) c.1428C>A (p.Gly476=) c.2148C>A (p.Gly716=) c.2298C>A (p.Gly766=) c.2271C>A (p.Gly757=) | |
7 | g.150949001C>A | CA369855258 | KCNH2 | n.3280G>T c.2447G>T (p.Gly816Val) c.1427G>T (p.Gly476Val) c.2147G>T (p.Gly716Val) c.2297G>T (p.Gly766Val) c.2270G>T (p.Gly757Val) | |
7 | g.150949001C>G | CA369855259 | KCNH2 | n.3280G>C c.2447G>C (p.Gly816Ala) c.1427G>C (p.Gly476Ala) c.2147G>C (p.Gly716Ala) c.2297G>C (p.Gly766Ala) c.2270G>C (p.Gly757Ala) | |
7 | g.150949001C>T | CA369855260 | KCNH2 | n.3280G>A c.2447G>A (p.Gly816Asp) c.1427G>A (p.Gly476Asp) c.2147G>A (p.Gly716Asp) c.2297G>A (p.Gly766Asp) c.2270G>A (p.Gly757Asp) | |
7 | g.150949002C>A | CA369855262 | KCNH2 | n.3279G>T c.2446G>T (p.Gly816Cys) c.1426G>T (p.Gly476Cys) c.2146G>T (p.Gly716Cys) c.2296G>T (p.Gly766Cys) c.2269G>T (p.Gly757Cys) | |
7 | g.150949002C>G | CA369855266 | KCNH2 | n.3279G>C c.2446G>C (p.Gly816Arg) c.1426G>C (p.Gly476Arg) c.2146G>C (p.Gly716Arg) c.2296G>C (p.Gly766Arg) c.2269G>C (p.Gly757Arg) | |
7 | g.150949002C>T | CA369855264 | KCNH2 | n.3279G>A c.2446G>A (p.Gly816Ser) c.1426G>A (p.Gly476Ser) c.2146G>A (p.Gly716Ser) c.2296G>A (p.Gly766Ser) c.2269G>A (p.Gly757Ser) | |
7 | g.150949003A= | CA1752432055 | KCNH2 | n.3278T= c.2445T= (p.Pro815=) c.1425T= (p.Pro475=) c.2145T= (p.Pro715=) c.2295T= (p.Pro765=) c.2268T= (p.Pro756=) | |
7 | g.150949003A>C | CA458645195 | KCNH2 | n.3278T>G c.2445T>G (p.Pro815=) c.1425T>G (p.Pro475=) c.2145T>G (p.Pro715=) c.2295T>G (p.Pro765=) c.2268T>G (p.Pro756=) | |
7 | g.150949003A>G | CA032754 | KCNH2 | n.3278T>C c.2445T>C (p.Pro815=) c.1425T>C (p.Pro475=) c.2145T>C (p.Pro715=) c.2295T>C (p.Pro765=) c.2268T>C (p.Pro756=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150949003A>T | CA458645196 | KCNH2 | n.3278T>A c.2445T>A (p.Pro815=) c.1425T>A (p.Pro475=) c.2145T>A (p.Pro715=) c.2295T>A (p.Pro765=) c.2268T>A (p.Pro756=) | |
7 | g.150949004G>A | CA369855270 | KCNH2 | n.3277C>T c.2444C>T (p.Pro815Leu) c.1424C>T (p.Pro475Leu) c.2144C>T (p.Pro715Leu) c.2294C>T (p.Pro765Leu) c.2267C>T (p.Pro756Leu) | |
7 | g.150949004G>C | CA369855271 | KCNH2 | n.3277C>G c.2444C>G (p.Pro815Arg) c.1424C>G (p.Pro475Arg) c.2144C>G (p.Pro715Arg) c.2294C>G (p.Pro765Arg) c.2267C>G (p.Pro756Arg) | |
7 | g.150949004G>T | CA369855274 | KCNH2 | n.3277C>A c.2444C>A (p.Pro815His) c.1424C>A (p.Pro475His) c.2144C>A (p.Pro715His) c.2294C>A (p.Pro765His) c.2267C>A (p.Pro756His) | |
7 | g.150949005G>A | CA369855276 | KCNH2 | n.3276C>T c.2443C>T (p.Pro815Ser) c.1423C>T (p.Pro475Ser) c.2143C>T (p.Pro715Ser) c.2293C>T (p.Pro765Ser) c.2266C>T (p.Pro756Ser) | |
7 | g.150949005G>C | CA369855280 | KCNH2 | n.3276C>G c.2443C>G (p.Pro815Ala) c.1423C>G (p.Pro475Ala) c.2143C>G (p.Pro715Ala) c.2293C>G (p.Pro765Ala) c.2266C>G (p.Pro756Ala) | ClinVar |
7 | g.150949005G>T | CA369855278 | KCNH2 | n.3276C>A c.2443C>A (p.Pro815Thr) c.1423C>A (p.Pro475Thr) c.2143C>A (p.Pro715Thr) c.2293C>A (p.Pro765Thr) c.2266C>A (p.Pro756Thr) | |
7 | g.150949006C>A | CA369855282 | KCNH2 | n.3275G>T c.2442G>T (p.Arg814Ser) c.1422G>T (p.Arg474Ser) c.2142G>T (p.Arg714Ser) c.2292G>T (p.Arg764Ser) c.2265G>T (p.Arg755Ser) | |
7 | g.150949006C>G | CA369855284 | KCNH2 | n.3275G>C c.2442G>C (p.Arg814Ser) c.1422G>C (p.Arg474Ser) c.2142G>C (p.Arg714Ser) c.2292G>C (p.Arg764Ser) c.2265G>C (p.Arg755Ser) | |
7 | g.150949006C>T | CA458645197 | KCNH2 | n.3275G>A c.2442G>A (p.Arg814=) c.1422G>A (p.Arg474=) c.2142G>A (p.Arg714=) c.2292G>A (p.Arg764=) c.2265G>A (p.Arg755=) | |
7 | g.150949007C>A | CA369855286 | KCNH2 | n.3274G>T c.2441G>T (p.Arg814Met) c.1421G>T (p.Arg474Met) c.2141G>T (p.Arg714Met) c.2291G>T (p.Arg764Met) c.2264G>T (p.Arg755Met) | dbSNP |
7 | g.150949007C>G | CA369855288 | KCNH2 | n.3274G>C c.2441G>C (p.Arg814Thr) c.1421G>C (p.Arg474Thr) c.2141G>C (p.Arg714Thr) c.2291G>C (p.Arg764Thr) c.2264G>C (p.Arg755Thr) | |
7 | g.150949007C>T | CA369855290 | KCNH2 | n.3274G>A c.2441G>A (p.Arg814Lys) c.1421G>A (p.Arg474Lys) c.2141G>A (p.Arg714Lys) c.2291G>A (p.Arg764Lys) c.2264G>A (p.Arg755Lys) | ClinVar gnomAD v4 |
7 | g.150949008T>A | CA369855292 | KCNH2 | n.3273A>T c.2440A>T (p.Arg814Trp) c.1420A>T (p.Arg474Trp) c.2140A>T (p.Arg714Trp) c.2290A>T (p.Arg764Trp) c.2263A>T (p.Arg755Trp) | |
7 | g.150949008T>C | CA369855294 | KCNH2 | n.3273A>G c.2440A>G (p.Arg814Gly) c.1420A>G (p.Arg474Gly) c.2140A>G (p.Arg714Gly) c.2290A>G (p.Arg764Gly) c.2263A>G (p.Arg755Gly) | |
7 | g.150949008T>G | CA458645198 | KCNH2 | n.3273A>C c.2440A>C (p.Arg814=) c.1420A>C (p.Arg474=) c.2140A>C (p.Arg714=) c.2290A>C (p.Arg764=) c.2263A>C (p.Arg755=) | |
7 | g.150949009T>A | CA458645199 | KCNH2 | n.3272A>T c.2439A>T (p.Ala813=) c.1419A>T (p.Ala473=) c.2139A>T (p.Ala713=) c.2289A>T (p.Ala763=) c.2262A>T (p.Ala754=) | |
7 | g.150949009T>C | CA458645201 | KCNH2 | n.3272A>G c.2439A>G (p.Ala813=) c.1419A>G (p.Ala473=) c.2139A>G (p.Ala713=) c.2289A>G (p.Ala763=) c.2262A>G (p.Ala754=) | |
7 | g.150949009T>G | CA458645200 | KCNH2 | n.3272A>C c.2439A>C (p.Ala813=) c.1419A>C (p.Ala473=) c.2139A>C (p.Ala713=) c.2289A>C (p.Ala763=) c.2262A>C (p.Ala754=) | |
7 | g.150949010G>A | CA369855296 | KCNH2 | n.3271C>T c.2438C>T (p.Ala813Val) c.1418C>T (p.Ala473Val) c.2138C>T (p.Ala713Val) c.2288C>T (p.Ala763Val) c.2261C>T (p.Ala754Val) | dbSNP |
7 | g.150949010G>C | CA369855298 | KCNH2 | n.3271C>G c.2438C>G (p.Ala813Gly) c.1418C>G (p.Ala473Gly) c.2138C>G (p.Ala713Gly) c.2288C>G (p.Ala763Gly) c.2261C>G (p.Ala754Gly) | ClinVar gnomAD v4 |
7 | g.150949010G= | CA1752432059 | KCNH2 | n.3271C= c.2438C= (p.Ala813=) c.1418C= (p.Ala473=) c.2138C= (p.Ala713=) c.2288C= (p.Ala763=) c.2261C= (p.Ala754=) | |
7 | g.150949010G>T | CA369855300 | KCNH2 | n.3271C>A c.2438C>A (p.Ala813Glu) c.1418C>A (p.Ala473Glu) c.2138C>A (p.Ala713Glu) c.2288C>A (p.Ala763Glu) c.2261C>A (p.Ala754Glu) | |
7 | g.150949011C>A | CA369855302 | KCNH2 | n.3270G>T c.2437G>T (p.Ala813Ser) c.1417G>T (p.Ala473Ser) c.2137G>T (p.Ala713Ser) c.2287G>T (p.Ala763Ser) c.2260G>T (p.Ala754Ser) | |
7 | g.150949011C= | CA1752432062 | KCNH2 | n.3270G= c.2437G= (p.Ala813=) c.1417G= (p.Ala473=) c.2137G= (p.Ala713=) c.2287G= (p.Ala763=) c.2260G= (p.Ala754=) | |
7 | g.150949011C>G | CA369855304 | KCNH2 | n.3270G>C c.2437G>C (p.Ala813Pro) c.1417G>C (p.Ala473Pro) c.2137G>C (p.Ala713Pro) c.2287G>C (p.Ala763Pro) c.2260G>C (p.Ala754Pro) | |
7 | g.150949011C>T | CA369855306 | KCNH2 | n.3270G>A c.2437G>A (p.Ala813Thr) c.1417G>A (p.Ala473Thr) c.2137G>A (p.Ala713Thr) c.2287G>A (p.Ala763Thr) c.2260G>A (p.Ala754Thr) | ClinVar dbSNP |
7 | g.150949012A= | CA1752432063 | KCNH2 | n.3269T= c.2436T= (p.Tyr812=) c.1416T= (p.Tyr472=) c.2136T= (p.Tyr712=) c.2286T= (p.Tyr762=) c.2259T= (p.Tyr753=) | |
7 | g.150949012A>C | CA369855310 | KCNH2 | n.3269T>G c.2436T>G (p.Tyr812Ter) c.1416T>G (p.Tyr472Ter) c.2136T>G (p.Tyr712Ter) c.2286T>G (p.Tyr762Ter) c.2259T>G (p.Tyr753Ter) | |
7 | g.150949012A>G | CA458645202 | KCNH2 | n.3269T>C c.2436T>C (p.Tyr812=) c.1416T>C (p.Tyr472=) c.2136T>C (p.Tyr712=) c.2286T>C (p.Tyr762=) c.2259T>C (p.Tyr753=) | dbSNP |
7 | g.150949012A>T | CA369855308 | KCNH2 | n.3269T>A c.2436T>A (p.Tyr812Ter) c.1416T>A (p.Tyr472Ter) c.2136T>A (p.Tyr712Ter) c.2286T>A (p.Tyr762Ter) c.2259T>A (p.Tyr753Ter) | ClinVar dbSNP |
7 | g.150949012dup | CA2695208829 | KCNH2 | n.3269dup c.2436dup (p.Ala813CysfsTer17) c.1416dup (p.Ala473CysfsTer17) c.2136dup (p.Ala713CysfsTer17) c.2286dup (p.Ala763CysfsTer17) c.2259dup (p.Ala754CysfsTer17) | |
7 | g.150949013T>A | CA369855313 | KCNH2 | n.3268A>T c.2435A>T (p.Tyr812Phe) c.1415A>T (p.Tyr472Phe) c.2135A>T (p.Tyr712Phe) c.2285A>T (p.Tyr762Phe) c.2258A>T (p.Tyr753Phe) | |
7 | g.150949013T>C | CA369855314 | KCNH2 | n.3268A>G c.2435A>G (p.Tyr812Cys) c.1415A>G (p.Tyr472Cys) c.2135A>G (p.Tyr712Cys) c.2285A>G (p.Tyr762Cys) c.2258A>G (p.Tyr753Cys) | ClinVar dbSNP |
7 | g.150949013T>G | CA369855316 | KCNH2 | n.3268A>C c.2435A>C (p.Tyr812Ser) c.1415A>C (p.Tyr472Ser) c.2135A>C (p.Tyr712Ser) c.2285A>C (p.Tyr762Ser) c.2258A>C (p.Tyr753Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150949013T= | CA1752432067 | KCNH2 | n.3268A= c.2435A= (p.Tyr812=) c.1415A= (p.Tyr472=) c.2135A= (p.Tyr712=) c.2285A= (p.Tyr762=) c.2258A= (p.Tyr753=) | |
7 | g.150949014A>C | CA369855319 | KCNH2 | n.3267T>G c.2434T>G (p.Tyr812Asp) c.1414T>G (p.Tyr472Asp) c.2134T>G (p.Tyr712Asp) c.2284T>G (p.Tyr762Asp) c.2257T>G (p.Tyr753Asp) | |
7 | g.150949014A>G | CA369855320 | KCNH2 | n.3267T>C c.2434T>C (p.Tyr812His) c.1414T>C (p.Tyr472His) c.2134T>C (p.Tyr712His) c.2284T>C (p.Tyr762His) c.2257T>C (p.Tyr753His) | |
7 | g.150949014A>T | CA369855321 | KCNH2 | n.3267T>A c.2434T>A (p.Tyr812Asn) c.1414T>A (p.Tyr472Asn) c.2134T>A (p.Tyr712Asn) c.2284T>A (p.Tyr762Asn) c.2257T>A (p.Tyr753Asn) | |
7 | g.150949015C>A | CA458645203 | KCNH2 | n.3266G>T c.2433G>T (p.Leu811=) c.1413G>T (p.Leu471=) c.2133G>T (p.Leu711=) c.2283G>T (p.Leu761=) c.2256G>T (p.Leu752=) | dbSNP |
7 | g.150949015C= | CA1752432069 | KCNH2 | n.3266G= c.2433G= (p.Leu811=) c.1413G= (p.Leu471=) c.2133G= (p.Leu711=) c.2283G= (p.Leu761=) c.2256G= (p.Leu752=) | |
7 | g.150949015C>G | CA458645205 | KCNH2 | n.3266G>C c.2433G>C (p.Leu811=) c.1413G>C (p.Leu471=) c.2133G>C (p.Leu711=) c.2283G>C (p.Leu761=) c.2256G>C (p.Leu752=) | |
7 | g.150949015C>T | CA458645204 | KCNH2 | n.3266G>A c.2433G>A (p.Leu811=) c.1413G>A (p.Leu471=) c.2133G>A (p.Leu711=) c.2283G>A (p.Leu761=) c.2256G>A (p.Leu752=) | ClinVar dbSNP gnomAD v4 |
7 | g.150949016A= | CA1752432070 | KCNH2 | n.3265T= c.2432T= (p.Leu811=) c.1412T= (p.Leu471=) c.2132T= (p.Leu711=) c.2282T= (p.Leu761=) c.2255T= (p.Leu752=) | |
7 | g.150949016A>C | CA369855323 | KCNH2 | n.3265T>G c.2432T>G (p.Leu811Arg) c.1412T>G (p.Leu471Arg) c.2132T>G (p.Leu711Arg) c.2282T>G (p.Leu761Arg) c.2255T>G (p.Leu752Arg) | |
7 | g.150949016A>G | CA369855326 | KCNH2 | n.3265T>C c.2432T>C (p.Leu811Pro) c.1412T>C (p.Leu471Pro) c.2132T>C (p.Leu711Pro) c.2282T>C (p.Leu761Pro) c.2255T>C (p.Leu752Pro) | dbSNP |
7 | g.150949016A>T | CA369855328 | KCNH2 | n.3265T>A c.2432T>A (p.Leu811Gln) c.1412T>A (p.Leu471Gln) c.2132T>A (p.Leu711Gln) c.2282T>A (p.Leu761Gln) c.2255T>A (p.Leu752Gln) | |
7 | g.150949017G>A | CA458645206 | KCNH2 | n.3264C>T c.2431C>T (p.Leu811=) c.1411C>T (p.Leu471=) c.2131C>T (p.Leu711=) c.2281C>T (p.Leu761=) c.2254C>T (p.Leu752=) | gnomAD v4 |
7 | g.150949017G>C | CA369855330 | KCNH2 | n.3264C>G c.2431C>G (p.Leu811Val) c.1411C>G (p.Leu471Val) c.2131C>G (p.Leu711Val) c.2281C>G (p.Leu761Val) c.2254C>G (p.Leu752Val) | |
7 | g.150949017G>T | CA369855331 | KCNH2 | n.3264C>A c.2431C>A (p.Leu811Met) c.1411C>A (p.Leu471Met) c.2131C>A (p.Leu711Met) c.2281C>A (p.Leu761Met) c.2254C>A (p.Leu752Met) | |
7 | g.150949018G>A | CA458645207 | KCNH2 | n.3263C>T c.2430C>T (p.Asn810=) c.1410C>T (p.Asn470=) c.2130C>T (p.Asn710=) c.2280C>T (p.Asn760=) c.2253C>T (p.Asn751=) | ClinVar |
7 | g.150949018G>C | CA169074887 | KCNH2 | n.3263C>G c.2430C>G (p.Asn810Lys) c.1410C>G (p.Asn470Lys) c.2130C>G (p.Asn710Lys) c.2280C>G (p.Asn760Lys) c.2253C>G (p.Asn751Lys) | dbSNP |
7 | g.150949018G= | CA1752432072 | KCNH2 | n.3263C= c.2430C= (p.Asn810=) c.1410C= (p.Asn470=) c.2130C= (p.Asn710=) c.2280C= (p.Asn760=) c.2253C= (p.Asn751=) | |
7 | g.150949018G>T | CA369855335 | KCNH2 | n.3263C>A c.2430C>A (p.Asn810Lys) c.1410C>A (p.Asn470Lys) c.2130C>A (p.Asn710Lys) c.2280C>A (p.Asn760Lys) c.2253C>A (p.Asn751Lys) | |
7 | g.150949019T>A | CA369855337 | KCNH2 | n.3262A>T c.2429A>T (p.Asn810Ile) c.1409A>T (p.Asn470Ile) c.2129A>T (p.Asn710Ile) c.2279A>T (p.Asn760Ile) c.2252A>T (p.Asn751Ile) | |
7 | g.150949019T>C | CA369855341 | KCNH2 | n.3262A>G c.2429A>G (p.Asn810Ser) c.1409A>G (p.Asn470Ser) c.2129A>G (p.Asn710Ser) c.2279A>G (p.Asn760Ser) c.2252A>G (p.Asn751Ser) | |
7 | g.150949019T>G | CA369855339 | KCNH2 | n.3262A>C c.2429A>C (p.Asn810Thr) c.1409A>C (p.Asn470Thr) c.2129A>C (p.Asn710Thr) c.2279A>C (p.Asn760Thr) c.2252A>C (p.Asn751Thr) | |
7 | g.150949020T>A | CA369855342 | KCNH2 | n.3261A>T c.2428A>T (p.Asn810Tyr) c.1408A>T (p.Asn470Tyr) c.2128A>T (p.Asn710Tyr) c.2278A>T (p.Asn760Tyr) c.2251A>T (p.Asn751Tyr) | |
7 | g.150949020T>C | CA369855344 | KCNH2 | n.3261A>G c.2428A>G (p.Asn810Asp) c.1408A>G (p.Asn470Asp) c.2128A>G (p.Asn710Asp) c.2278A>G (p.Asn760Asp) c.2251A>G (p.Asn751Asp) | |
7 | g.150949020T>G | CA369855343 | KCNH2 | n.3261A>C c.2428A>C (p.Asn810His) c.1408A>C (p.Asn470His) c.2128A>C (p.Asn710His) c.2278A>C (p.Asn760His) c.2251A>C (p.Asn751His) | |
7 | g.150949021C>A | CA458645208 | KCNH2 | n.3260G>T c.2427G>T (p.Leu809=) c.1407G>T (p.Leu469=) c.2127G>T (p.Leu709=) c.2277G>T (p.Leu759=) c.2250G>T (p.Leu750=) | |
7 | g.150949021C>G | CA458645209 | KCNH2 | n.3260G>C c.2427G>C (p.Leu809=) c.1407G>C (p.Leu469=) c.2127G>C (p.Leu709=) c.2277G>C (p.Leu759=) c.2250G>C (p.Leu750=) | |
7 | g.150949021C>T | CA458645210 | KCNH2 | n.3260G>A c.2427G>A (p.Leu809=) c.1407G>A (p.Leu469=) c.2127G>A (p.Leu709=) c.2277G>A (p.Leu759=) c.2250G>A (p.Leu750=) | |
7 | g.150949022A>C | CA369855345 | KCNH2 | n.3259T>G c.2426T>G (p.Leu809Arg) c.1406T>G (p.Leu469Arg) c.2126T>G (p.Leu709Arg) c.2276T>G (p.Leu759Arg) c.2249T>G (p.Leu750Arg) | |
7 | g.150949022A>G | CA369855346 | KCNH2 | n.3259T>C c.2426T>C (p.Leu809Pro) c.1406T>C (p.Leu469Pro) c.2126T>C (p.Leu709Pro) c.2276T>C (p.Leu759Pro) c.2249T>C (p.Leu750Pro) | gnomAD v4 |
7 | g.150949022A>T | CA369855347 | KCNH2 | n.3259T>A c.2426T>A (p.Leu809Gln) c.1406T>A (p.Leu469Gln) c.2126T>A (p.Leu709Gln) c.2276T>A (p.Leu759Gln) c.2249T>A (p.Leu750Gln) | |
7 | g.150949023G>A | CA032719 | KCNH2 | n.3258C>T c.2425C>T (p.Leu809=) c.1405C>T (p.Leu469=) c.2125C>T (p.Leu709=) c.2275C>T (p.Leu759=) c.2248C>T (p.Leu750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150949023G>C | CA369855348 | KCNH2 | n.3258C>G c.2425C>G (p.Leu809Val) c.1405C>G (p.Leu469Val) c.2125C>G (p.Leu709Val) c.2275C>G (p.Leu759Val) c.2248C>G (p.Leu750Val) | |
7 | g.150949023G= | CA1752432076 | KCNH2 | n.3258C= c.2425C= (p.Leu809=) c.1405C= (p.Leu469=) c.2125C= (p.Leu709=) c.2275C= (p.Leu759=) c.2248C= (p.Leu750=) | |
7 | g.150949023G>T | CA369855349 | KCNH2 | n.3258C>A c.2425C>A (p.Leu809Met) c.1405C>A (p.Leu469Met) c.2125C>A (p.Leu709Met) c.2275C>A (p.Leu759Met) c.2248C>A (p.Leu750Met) | |
7 | g.150949024A>C | CA458645213 | KCNH2 | n.3257T>G c.2424T>G (p.Pro808=) c.1404T>G (p.Pro468=) c.2124T>G (p.Pro708=) c.2274T>G (p.Pro758=) c.2247T>G (p.Pro749=) | |
7 | g.150949024A>G | CA458645211 | KCNH2 | n.3257T>C c.2424T>C (p.Pro808=) c.1404T>C (p.Pro468=) c.2124T>C (p.Pro708=) c.2274T>C (p.Pro758=) c.2247T>C (p.Pro749=) | |
7 | g.150949024A>T | CA458645212 | KCNH2 | n.3257T>A c.2424T>A (p.Pro808=) c.1404T>A (p.Pro468=) c.2124T>A (p.Pro708=) c.2274T>A (p.Pro758=) c.2247T>A (p.Pro749=) | |
7 | g.150949025G>A | CA369855350 | KCNH2 | n.3256C>T c.2423C>T (p.Pro808Leu) c.1403C>T (p.Pro468Leu) c.2123C>T (p.Pro708Leu) c.2273C>T (p.Pro758Leu) c.2246C>T (p.Pro749Leu) | |
7 | g.150949025G>C | CA369855351 | KCNH2 | n.3256C>G c.2423C>G (p.Pro808Arg) c.1403C>G (p.Pro468Arg) c.2123C>G (p.Pro708Arg) c.2273C>G (p.Pro758Arg) c.2246C>G (p.Pro749Arg) | |
7 | g.150949025G>T | CA369855352 | KCNH2 | n.3256C>A c.2423C>A (p.Pro808His) c.1403C>A (p.Pro468His) c.2123C>A (p.Pro708His) c.2273C>A (p.Pro758His) c.2246C>A (p.Pro749His) | |
7 | g.150949026G>A | CA369855353 | KCNH2 | n.3255C>T c.2422C>T (p.Pro808Ser) c.1402C>T (p.Pro468Ser) c.2122C>T (p.Pro708Ser) c.2272C>T (p.Pro758Ser) c.2245C>T (p.Pro749Ser) | |
7 | g.150949026G>C | CA369855354 | KCNH2 | n.3255C>G c.2422C>G (p.Pro808Ala) c.1402C>G (p.Pro468Ala) c.2122C>G (p.Pro708Ala) c.2272C>G (p.Pro758Ala) c.2245C>G (p.Pro749Ala) | |
7 | g.150949026G>T | CA369855355 | KCNH2 | n.3255C>A c.2422C>A (p.Pro808Thr) c.1402C>A (p.Pro468Thr) c.2122C>A (p.Pro708Thr) c.2272C>A (p.Pro758Thr) c.2245C>A (p.Pro749Thr) | |
7 | g.150949027C>A | CA369855357 | KCNH2 | n.3254G>T c.2421G>T (p.Glu807Asp) c.1401G>T (p.Glu467Asp) c.2121G>T (p.Glu707Asp) c.2271G>T (p.Glu757Asp) c.2244G>T (p.Glu748Asp) | |
7 | g.150949027C>G | CA369855356 | KCNH2 | n.3254G>C c.2421G>C (p.Glu807Asp) c.1401G>C (p.Glu467Asp) c.2121G>C (p.Glu707Asp) c.2271G>C (p.Glu757Asp) c.2244G>C (p.Glu748Asp) | |
7 | g.150949027C>T | CA458645214 | KCNH2 | n.3254G>A c.2421G>A (p.Glu807=) c.1401G>A (p.Glu467=) c.2121G>A (p.Glu707=) c.2271G>A (p.Glu757=) c.2244G>A (p.Glu748=) | |
7 | g.150949028T>A | CA369855358 | KCNH2 | n.3253A>T c.2420A>T (p.Glu807Val) c.1400A>T (p.Glu467Val) c.2120A>T (p.Glu707Val) c.2270A>T (p.Glu757Val) c.2243A>T (p.Glu748Val) | |
7 | g.150949028T>C | CA369855359 | KCNH2 | n.3253A>G c.2420A>G (p.Glu807Gly) c.1400A>G (p.Glu467Gly) c.2120A>G (p.Glu707Gly) c.2270A>G (p.Glu757Gly) c.2243A>G (p.Glu748Gly) | |
7 | g.150949028T>G | CA369855360 | KCNH2 | n.3253A>C c.2420A>C (p.Glu807Ala) c.1400A>C (p.Glu467Ala) c.2120A>C (p.Glu707Ala) c.2270A>C (p.Glu757Ala) c.2243A>C (p.Glu748Ala) | |
7 | g.150949028_150949029delinsTC | CA1752432077 | KCNH2 | n.3252_3253delinsGA c.2419_2420delinsGA (p.Glu807=) c.1399_1400delinsGA (p.Glu467=) c.2119_2120delinsGA (p.Glu707=) c.2269_2270delinsGA (p.Glu757=) c.2242_2243delinsGA (p.Glu748=) | |
7 | g.150949029C>A | CA369855361 | KCNH2 | n.3252G>T c.2419G>T (p.Glu807Ter) c.1399G>T (p.Glu467Ter) c.2119G>T (p.Glu707Ter) c.2269G>T (p.Glu757Ter) c.2242G>T (p.Glu748Ter) | |
7 | g.150949029C>G | CA369855362 | KCNH2 | n.3252G>C c.2419G>C (p.Glu807Gln) c.1399G>C (p.Glu467Gln) c.2119G>C (p.Glu707Gln) c.2269G>C (p.Glu757Gln) c.2242G>C (p.Glu748Gln) | |
7 | g.150949029C>T | CA369855363 | KCNH2 | n.3252G>A c.2419G>A (p.Glu807Lys) c.1399G>A (p.Glu467Lys) c.2119G>A (p.Glu707Lys) c.2269G>A (p.Glu757Lys) c.2242G>A (p.Glu748Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.150949032dup | CA2685600757 | KCNH2 | n.3252dup c.2419dup (p.Glu807GlyfsTer23) c.1399dup (p.Glu467GlyfsTer23) c.2119dup (p.Glu707GlyfsTer23) c.2269dup (p.Glu757GlyfsTer23) c.2242dup (p.Glu748GlyfsTer23) | gnomAD v4 |
7 | g.150949032del | CA006738 | KCNH2 | n.3252del c.2419del (p.Glu807SerfsTer3) c.1399del (p.Glu467SerfsTer3) c.2119del (p.Glu707SerfsTer3) c.2269del (p.Glu757SerfsTer3) c.2242del (p.Glu748SerfsTer3) | ClinVar dbSNP |
7 | g.150949030C>A | CA458645217 | KCNH2 | n.3251G>T c.2418G>T (p.Gly806=) c.1398G>T (p.Gly466=) c.2118G>T (p.Gly706=) c.2268G>T (p.Gly756=) c.2241G>T (p.Gly747=) | |
7 | g.150949030C>G | CA458645215 | KCNH2 | n.3251G>C c.2418G>C (p.Gly806=) c.1398G>C (p.Gly466=) c.2118G>C (p.Gly706=) c.2268G>C (p.Gly756=) c.2241G>C (p.Gly747=) | |
7 | g.150949030C>T | CA458645216 | KCNH2 | n.3251G>A c.2418G>A (p.Gly806=) c.1398G>A (p.Gly466=) c.2118G>A (p.Gly706=) c.2268G>A (p.Gly756=) c.2241G>A (p.Gly747=) | |
7 | g.150949031C>A | CA369855364 | KCNH2 | n.3250G>T c.2417G>T (p.Gly806Val) c.1397G>T (p.Gly466Val) c.2117G>T (p.Gly706Val) c.2267G>T (p.Gly756Val) c.2240G>T (p.Gly747Val) | |
7 | g.150949031C= | CA1752432081 | KCNH2 | n.3250G= c.2417G= (p.Gly806=) c.1397G= (p.Gly466=) c.2117G= (p.Gly706=) c.2267G= (p.Gly756=) c.2240G= (p.Gly747=) | |
7 | g.150949031C>G | CA006729 | KCNH2 | n.3250G>C c.2417G>C (p.Gly806Ala) c.1397G>C (p.Gly466Ala) c.2117G>C (p.Gly706Ala) c.2267G>C (p.Gly756Ala) c.2240G>C (p.Gly747Ala) | ClinVar dbSNP |
7 | g.150949031C>T | CA006718 | KCNH2 | n.3250G>A c.2417G>A (p.Gly806Glu) c.1397G>A (p.Gly466Glu) c.2117G>A (p.Gly706Glu) c.2267G>A (p.Gly756Glu) c.2240G>A (p.Gly747Glu) | ClinVar dbSNP |
7 | g.150949032C>A | CA369855365 | KCNH2 | n.3249G>T c.2416G>T (p.Gly806Trp) c.1396G>T (p.Gly466Trp) c.2116G>T (p.Gly706Trp) c.2266G>T (p.Gly756Trp) c.2239G>T (p.Gly747Trp) | |
7 | g.150949032C>G | CA369855366 | KCNH2 | n.3249G>C c.2416G>C (p.Gly806Arg) c.1396G>C (p.Gly466Arg) c.2116G>C (p.Gly706Arg) c.2266G>C (p.Gly756Arg) c.2239G>C (p.Gly747Arg) | |
7 | g.150949032C>T | CA369855367 | KCNH2 | n.3249G>A c.2416G>A (p.Gly806Arg) c.1396G>A (p.Gly466Arg) c.2116G>A (p.Gly706Arg) c.2266G>A (p.Gly756Arg) c.2239G>A (p.Gly747Arg) | |
7 | g.150949032_150949033delinsCA | CA1752432082 | KCNH2 | n.3248_3249delinsTG c.2415_2416delinsTG (p.Phe805=) c.1395_1396delinsTG (p.Phe465=) c.2115_2116delinsTG (p.Phe705=) c.2265_2266delinsTG (p.Phe755=) c.2238_2239delinsTG (p.Phe746=) | |
7 | g.150949033A>C | CA369855368 | KCNH2 | n.3248T>G c.2415T>G (p.Phe805Leu) c.1395T>G (p.Phe465Leu) c.2115T>G (p.Phe705Leu) c.2265T>G (p.Phe755Leu) c.2238T>G (p.Phe746Leu) | |
7 | g.150949033A>G | CA458645218 | KCNH2 | n.3248T>C c.2415T>C (p.Phe805=) c.1395T>C (p.Phe465=) c.2115T>C (p.Phe705=) c.2265T>C (p.Phe755=) c.2238T>C (p.Phe746=) | |
7 | g.150949033A>T | CA369855369 | KCNH2 | n.3248T>A c.2415T>A (p.Phe805Leu) c.1395T>A (p.Phe465Leu) c.2115T>A (p.Phe705Leu) c.2265T>A (p.Phe755Leu) c.2238T>A (p.Phe746Leu) | |
7 | g.150949035del | CA16618404 | KCNH2 | n.3248del c.2415del (p.Phe805LeufsTer5) c.1395del (p.Phe465LeufsTer5) c.2115del (p.Phe705LeufsTer5) c.2265del (p.Phe755LeufsTer5) c.2238del (p.Phe746LeufsTer5) | ClinVar dbSNP gnomAD v4 |
7 | g.150949034A= | CA1752432085 | KCNH2 | n.3247T= c.2414T= (p.Phe805=) c.1394T= (p.Phe465=) c.2114T= (p.Phe705=) c.2264T= (p.Phe755=) c.2237T= (p.Phe746=) | |
7 | g.150949034A>C | CA006712 | KCNH2 | n.3247T>G c.2414T>G (p.Phe805Cys) c.1394T>G (p.Phe465Cys) c.2114T>G (p.Phe705Cys) c.2264T>G (p.Phe755Cys) c.2237T>G (p.Phe746Cys) | ClinVar dbSNP |
7 | g.150949034A>G | CA006704 | KCNH2 | n.3247T>C c.2414T>C (p.Phe805Ser) c.1394T>C (p.Phe465Ser) c.2114T>C (p.Phe705Ser) c.2264T>C (p.Phe755Ser) c.2237T>C (p.Phe746Ser) | ClinVar dbSNP |
7 | g.150949034A>T | CA369855370 | KCNH2 | n.3247T>A c.2414T>A (p.Phe805Tyr) c.1394T>A (p.Phe465Tyr) c.2114T>A (p.Phe705Tyr) c.2264T>A (p.Phe755Tyr) c.2237T>A (p.Phe746Tyr) | |
7 | g.150949035A>C | CA369855371 | KCNH2 | n.3246T>G c.2413T>G (p.Phe805Val) c.1393T>G (p.Phe465Val) c.2113T>G (p.Phe705Val) c.2263T>G (p.Phe755Val) c.2236T>G (p.Phe746Val) | |
7 | g.150949035A>G | CA369855372 | KCNH2 | n.3246T>C c.2413T>C (p.Phe805Leu) c.1393T>C (p.Phe465Leu) c.2113T>C (p.Phe705Leu) c.2263T>C (p.Phe755Leu) c.2236T>C (p.Phe746Leu) | |
7 | g.150949035A>T | CA369855373 | KCNH2 | n.3246T>A c.2413T>A (p.Phe805Ile) c.1393T>A (p.Phe465Ile) c.2113T>A (p.Phe705Ile) c.2263T>A (p.Phe755Ile) c.2236T>A (p.Phe746Ile) | |
7 | g.150949036G>A | CA458645219 | KCNH2 | n.3245C>T c.2412C>T (p.Ile804=) c.1392C>T (p.Ile464=) c.2112C>T (p.Ile704=) c.2262C>T (p.Ile754=) c.2235C>T (p.Ile745=) | |
7 | g.150949036G>C | CA369855374 | KCNH2 | n.3245C>G c.2412C>G (p.Ile804Met) c.1392C>G (p.Ile464Met) c.2112C>G (p.Ile704Met) c.2262C>G (p.Ile754Met) c.2235C>G (p.Ile745Met) | |
7 | g.150949036G= | CA1752432090 | KCNH2 | n.3245C= c.2412C= (p.Ile804=) c.1392C= (p.Ile464=) c.2112C= (p.Ile704=) c.2262C= (p.Ile754=) c.2235C= (p.Ile745=) | |
7 | g.150949036G>T | CA032681 | KCNH2 | n.3245C>A c.2412C>A (p.Ile804=) c.1392C>A (p.Ile464=) c.2112C>A (p.Ile704=) c.2262C>A (p.Ile754=) c.2235C>A (p.Ile745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150949037A>C | CA369855375 | KCNH2 | n.3244T>G c.2411T>G (p.Ile804Ser) c.1391T>G (p.Ile464Ser) c.2111T>G (p.Ile704Ser) c.2261T>G (p.Ile754Ser) c.2234T>G (p.Ile745Ser) | |
7 | g.150949037A>G | CA369855376 | KCNH2 | n.3244T>C c.2411T>C (p.Ile804Thr) c.1391T>C (p.Ile464Thr) c.2111T>C (p.Ile704Thr) c.2261T>C (p.Ile754Thr) c.2234T>C (p.Ile745Thr) | |
7 | g.150949037A>T | CA369855377 | KCNH2 | n.3244T>A c.2411T>A (p.Ile804Asn) c.1391T>A (p.Ile464Asn) c.2111T>A (p.Ile704Asn) c.2261T>A (p.Ile754Asn) c.2234T>A (p.Ile745Asn) | |
7 | g.150949038T>A | CA369855378 | KCNH2 | n.3243A>T c.2410A>T (p.Ile804Phe) c.1390A>T (p.Ile464Phe) c.2110A>T (p.Ile704Phe) c.2260A>T (p.Ile754Phe) c.2233A>T (p.Ile745Phe) | |
7 | g.150949038T>C | CA369855379 | KCNH2 | n.3243A>G c.2410A>G (p.Ile804Val) c.1390A>G (p.Ile464Val) c.2110A>G (p.Ile704Val) c.2260A>G (p.Ile754Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v4 |
7 | g.150949038T>G | CA369855380 | KCNH2 | n.3243A>C c.2410A>C (p.Ile804Leu) c.1390A>C (p.Ile464Leu) c.2110A>C (p.Ile704Leu) c.2260A>C (p.Ile754Leu) c.2233A>C (p.Ile745Leu) | |
7 | g.150949038T= | CA1752432093 | KCNH2 | n.3243A= c.2410A= (p.Ile804=) c.1390A= (p.Ile464=) c.2110A= (p.Ile704=) c.2260A= (p.Ile754=) c.2233A= (p.Ile745=) | |
7 | g.150949038_150949041delinsTGTC | CA1752432094 | KCNH2 | n.3240_3243delinsGACA c.2407_2410delinsGACA (p.Asp803=) c.1387_1390delinsGACA (p.Asp463=) c.2107_2110delinsGACA (p.Asp703=) c.2257_2260delinsGACA (p.Asp753=) c.2230_2233delinsGACA (p.Asp744=) | |
7 | g.150949039G>A | CA032653 | KCNH2 | n.3242C>T c.2409C>T (p.Asp803=) c.1389C>T (p.Asp463=) c.2109C>T (p.Asp703=) c.2259C>T (p.Asp753=) c.2232C>T (p.Asp744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150949039G>C | CA369855382 | KCNH2 | n.3242C>G c.2409C>G (p.Asp803Glu) c.1389C>G (p.Asp463Glu) c.2109C>G (p.Asp703Glu) c.2259C>G (p.Asp753Glu) c.2232C>G (p.Asp744Glu) | |
7 | g.150949039G= | CA1752432097 | KCNH2 | n.3242C= c.2409C= (p.Asp803=) c.1389C= (p.Asp463=) c.2109C= (p.Asp703=) c.2259C= (p.Asp753=) c.2232C= (p.Asp744=) | |
7 | g.150949039G>T | CA369855381 | KCNH2 | n.3242C>A c.2409C>A (p.Asp803Glu) c.1389C>A (p.Asp463Glu) c.2109C>A (p.Asp703Glu) c.2259C>A (p.Asp753Glu) c.2232C>A (p.Asp744Glu) | |
7 | g.150949039_150949041del | CA916080386 | KCNH2 | n.3240_3242del c.2407_2409del (p.Asp803del) c.1387_1389del (p.Asp463del) c.2107_2109del (p.Asp703del) c.2257_2259del (p.Asp753del) c.2230_2232del (p.Asp744del) | ClinVar dbSNP |
7 | g.150949040T>A | CA369855383 | KCNH2 | n.3241A>T c.2408A>T (p.Asp803Val) c.1388A>T (p.Asp463Val) c.2108A>T (p.Asp703Val) c.2258A>T (p.Asp753Val) c.2231A>T (p.Asp744Val) | |
7 | g.150949040T>C | CA369855384 | KCNH2 | n.3241A>G c.2408A>G (p.Asp803Gly) c.1388A>G (p.Asp463Gly) c.2108A>G (p.Asp703Gly) c.2258A>G (p.Asp753Gly) c.2231A>G (p.Asp744Gly) | |
7 | g.150949040T>G | CA369855385 | KCNH2 | n.3241A>C c.2408A>C (p.Asp803Ala) c.1388A>C (p.Asp463Ala) c.2108A>C (p.Asp703Ala) c.2258A>C (p.Asp753Ala) c.2231A>C (p.Asp744Ala) | |
7 | g.150949041C>A | CA369855386 | KCNH2 | n.3240G>T c.2407G>T (p.Asp803Tyr) c.1387G>T (p.Asp463Tyr) c.2107G>T (p.Asp703Tyr) c.2257G>T (p.Asp753Tyr) c.2230G>T (p.Asp744Tyr) | |
7 | g.150949041C>G | CA369855387 | KCNH2 | n.3240G>C c.2407G>C (p.Asp803His) c.1387G>C (p.Asp463His) c.2107G>C (p.Asp703His) c.2257G>C (p.Asp753His) c.2230G>C (p.Asp744His) | |
7 | g.150949041C>T | CA369855388 | KCNH2 | n.3240G>A c.2407G>A (p.Asp803Asn) c.1387G>A (p.Asp463Asn) c.2107G>A (p.Asp703Asn) c.2257G>A (p.Asp753Asn) c.2230G>A (p.Asp744Asn) | COSMIC COSMIC |
7 | g.150949042A>C | CA369855389 | KCNH2 | n.3239T>G c.2406T>G (p.Asn802Lys) c.1386T>G (p.Asn462Lys) c.2106T>G (p.Asn702Lys) c.2256T>G (p.Asn752Lys) c.2229T>G (p.Asn743Lys) | |
7 | g.150949042A>G | CA458645220 | KCNH2 | n.3239T>C c.2406T>C (p.Asn802=) c.1386T>C (p.Asn462=) c.2106T>C (p.Asn702=) c.2256T>C (p.Asn752=) c.2229T>C (p.Asn743=) | |
7 | g.150949042A>T | CA369855390 | KCNH2 | n.3239T>A c.2406T>A (p.Asn802Lys) c.1386T>A (p.Asn462Lys) c.2106T>A (p.Asn702Lys) c.2256T>A (p.Asn752Lys) c.2229T>A (p.Asn743Lys) | |
7 | g.150949043T>A | CA369855391 | KCNH2 | n.3238A>T c.2405A>T (p.Asn802Ile) c.1385A>T (p.Asn462Ile) c.2105A>T (p.Asn702Ile) c.2255A>T (p.Asn752Ile) c.2228A>T (p.Asn743Ile) | |
7 | g.150949043T>C | CA337238 | KCNH2 | n.3238A>G c.2405A>G (p.Asn802Ser) c.1385A>G (p.Asn462Ser) c.2105A>G (p.Asn702Ser) c.2255A>G (p.Asn752Ser) c.2228A>G (p.Asn743Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150949043T>G | CA369855392 | KCNH2 | n.3238A>C c.2405A>C (p.Asn802Thr) c.1385A>C (p.Asn462Thr) c.2105A>C (p.Asn702Thr) c.2255A>C (p.Asn752Thr) c.2228A>C (p.Asn743Thr) | |
7 | g.150949043T= | CA1752432101 | KCNH2 | n.3238A= c.2405A= (p.Asn802=) c.1385A= (p.Asn462=) c.2105A= (p.Asn702=) c.2255A= (p.Asn752=) c.2228A= (p.Asn743=) | |
7 | g.150949044T>A | CA369855394 | KCNH2 | n.3237A>T c.2404A>T (p.Asn802Tyr) c.1384A>T (p.Asn462Tyr) c.2104A>T (p.Asn702Tyr) c.2254A>T (p.Asn752Tyr) c.2227A>T (p.Asn743Tyr) | |
7 | g.150949044T>C | CA169074939 | KCNH2 | n.3237A>G c.2404A>G (p.Asn802Asp) c.1384A>G (p.Asn462Asp) c.2104A>G (p.Asn702Asp) c.2254A>G (p.Asn752Asp) c.2227A>G (p.Asn743Asp) | dbSNP |
7 | g.150949044T>G | CA369855393 | KCNH2 | n.3237A>C c.2404A>C (p.Asn802His) c.1384A>C (p.Asn462His) c.2104A>C (p.Asn702His) c.2254A>C (p.Asn752His) c.2227A>C (p.Asn743His) | |
7 | g.150949044T= | CA1752432105 | KCNH2 | n.3237A= c.2404A= (p.Asn802=) c.1384A= (p.Asn462=) c.2104A= (p.Asn702=) c.2254A= (p.Asn752=) c.2227A= (p.Asn743=) | |
7 | g.150949045C>A | CA369855395 | KCNH2 | n.3236G>T c.2403G>T (p.Lys801Asn) c.1383G>T (p.Lys461Asn) c.2103G>T (p.Lys701Asn) c.2253G>T (p.Lys751Asn) c.2226G>T (p.Lys742Asn) | |
7 | g.150949045C>G | CA369855396 | KCNH2 | n.3236G>C c.2403G>C (p.Lys801Asn) c.1383G>C (p.Lys461Asn) c.2103G>C (p.Lys701Asn) c.2253G>C (p.Lys751Asn) c.2226G>C (p.Lys742Asn) | |
7 | g.150949045C>T | CA458645221 | KCNH2 | n.3236G>A c.2403G>A (p.Lys801=) c.1383G>A (p.Lys461=) c.2103G>A (p.Lys701=) c.2253G>A (p.Lys751=) c.2226G>A (p.Lys742=) | |
7 | g.150949046T>A | CA369855397 | KCNH2 | n.3235A>T c.2402A>T (p.Lys801Met) c.1382A>T (p.Lys461Met) c.2102A>T (p.Lys701Met) c.2252A>T (p.Lys751Met) c.2225A>T (p.Lys742Met) | |
7 | g.150949046T>C | CA369855399 | KCNH2 | n.3235A>G c.2402A>G (p.Lys801Arg) c.1382A>G (p.Lys461Arg) c.2102A>G (p.Lys701Arg) c.2252A>G (p.Lys751Arg) c.2225A>G (p.Lys742Arg) | |
7 | g.150949046T>G | CA369855398 | KCNH2 | n.3235A>C c.2402A>C (p.Lys801Thr) c.1382A>C (p.Lys461Thr) c.2102A>C (p.Lys701Thr) c.2252A>C (p.Lys751Thr) c.2225A>C (p.Lys742Thr) | |
7 | g.150949047T>A | CA369855400 | KCNH2 | n.3234A>T c.2401A>T (p.Lys801Ter) c.1381A>T (p.Lys461Ter) c.2101A>T (p.Lys701Ter) c.2251A>T (p.Lys751Ter) c.2224A>T (p.Lys742Ter) | |
7 | g.150949047T>C | CA369855401 | KCNH2 | n.3234A>G c.2401A>G (p.Lys801Glu) c.1381A>G (p.Lys461Glu) c.2101A>G (p.Lys701Glu) c.2251A>G (p.Lys751Glu) c.2224A>G (p.Lys742Glu) | |
7 | g.150949047T>G | CA369855402 | KCNH2 | n.3234A>C c.2401A>C (p.Lys801Gln) c.1381A>C (p.Lys461Gln) c.2101A>C (p.Lys701Gln) c.2251A>C (p.Lys751Gln) c.2224A>C (p.Lys742Gln) | |
7 | g.150949048C>A | CA458645222 | KCNH2 | n.3233G>T c.2400G>T (p.Gly800=) c.1380G>T (p.Gly460=) c.2100G>T (p.Gly700=) c.2250G>T (p.Gly750=) c.2223G>T (p.Gly741=) | |
7 | g.150949048C>G | CA458645223 | KCNH2 | n.3233G>C c.2400G>C (p.Gly800=) c.1380G>C (p.Gly460=) c.2100G>C (p.Gly700=) c.2250G>C (p.Gly750=) c.2223G>C (p.Gly741=) | |
7 | g.150949048C>T | CA458645224 | KCNH2 | n.3233G>A c.2400G>A (p.Gly800=) c.1380G>A (p.Gly460=) c.2100G>A (p.Gly700=) c.2250G>A (p.Gly750=) c.2223G>A (p.Gly741=) | |
7 | g.150949050del | CA2695208830 | KCNH2 | n.3233del c.2400del c.1380del c.2100del c.2250del c.2223del | |
7 | g.150949049C>A | CA369855403 | KCNH2 | n.3232G>T c.2399G>T (p.Gly800Val) c.1379G>T (p.Gly460Val) c.2099G>T (p.Gly700Val) c.2249G>T (p.Gly750Val) c.2222G>T (p.Gly741Val) | |
7 | g.150949049C= | CA1752432106 | KCNH2 | n.3232G= c.2399G= (p.Gly800=) c.1379G= (p.Gly460=) c.2099G= (p.Gly700=) c.2249G= (p.Gly750=) c.2222G= (p.Gly741=) | |
7 | g.150949049C>G | CA369855404 | KCNH2 | n.3232G>C c.2399G>C (p.Gly800Ala) c.1379G>C (p.Gly460Ala) c.2099G>C (p.Gly700Ala) c.2249G>C (p.Gly750Ala) c.2222G>C (p.Gly741Ala) | ClinVar |
7 | g.150949049C>T | CA006689 | KCNH2 | n.3232G>A c.2399G>A (p.Gly800Glu) c.1379G>A (p.Gly460Glu) c.2099G>A (p.Gly700Glu) c.2249G>A (p.Gly750Glu) c.2222G>A (p.Gly741Glu) | ClinVar dbSNP |
7 | g.150949050C>A | CA369855405 | KCNH2 | n.3232-1G>T c.2399-1G>T (n.2399-1G>T) c.1379-1G>T (n.1379-1G>T) c.2099-1G>T (n.2099-1G>T) c.2249-1G>T (n.2249-1G>T) c.2222-1G>T (n.2222-1G>T) | |
7 | g.150949050C>G | CA369855406 | KCNH2 | n.3232-1G>C c.2399-1G>C (n.2399-1G>C) c.1379-1G>C (n.1379-1G>C) c.2099-1G>C (n.2099-1G>C) c.2249-1G>C (n.2249-1G>C) c.2222-1G>C (n.2222-1G>C) | |
7 | g.150949050C>T | CA369855407 | KCNH2 | n.3232-1G>A c.2399-1G>A (n.2399-1G>A) c.1379-1G>A (n.1379-1G>A) c.2099-1G>A (n.2099-1G>A) c.2249-1G>A (n.2249-1G>A) c.2222-1G>A (n.2222-1G>A) | |
7 | g.150949051del | CA2695208831 | KCNH2 | n.3232-2del c.2399-2del (n.2399-2del) c.1379-2del (n.1379-2del) c.2099-2del (n.2099-2del) c.2249-2del (n.2249-2del) c.2222-2del (n.2222-2del) | |
7 | g.150949051T>A | CA369855408 | KCNH2 | n.3232-2A>T c.2399-2A>T (n.2399-2A>T) c.1379-2A>T (n.1379-2A>T) c.2099-2A>T (n.2099-2A>T) c.2249-2A>T (n.2249-2A>T) c.2222-2A>T (n.2222-2A>T) | |
7 | g.150949051T>C | CA369855409 | KCNH2 | n.3232-2A>G c.2399-2A>G (n.2399-2A>G) c.1379-2A>G (n.1379-2A>G) c.2099-2A>G (n.2099-2A>G) c.2249-2A>G (n.2249-2A>G) c.2222-2A>G (n.2222-2A>G) | ClinVar |
7 | g.150949051T>G | CA369855410 | KCNH2 | n.3232-2A>C c.2399-2A>C (n.2399-2A>C) c.1379-2A>C (n.1379-2A>C) c.2099-2A>C (n.2099-2A>C) c.2249-2A>C (n.2249-2A>C) c.2222-2A>C (n.2222-2A>C) | |
7 | g.150949052G>A | CA032475 | KCNH2 | n.3232-3C>T c.2399-3C>T (n.2399-3C>T) c.1379-3C>T (n.1379-3C>T) c.2099-3C>T (n.2099-3C>T) c.2249-3C>T (n.2249-3C>T) c.2222-3C>T (n.2222-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150949052G= | CA1752432107 | KCNH2 | n.3232-3C= c.2399-3C= (n.2399-3C=) c.1379-3C= (n.1379-3C=) c.2099-3C= (n.2099-3C=) c.2249-3C= (n.2249-3C=) c.2222-3C= (n.2222-3C=) |