| 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.150948867T>A | CA369854703 | KCNH2 | n.3414A>T c.2581A>T (p.Asn861Tyr) c.1561A>T (p.Asn521Tyr) c.2281A>T (p.Asn761Tyr) c.2431A>T (p.Asn811Tyr) c.2404A>T (p.Asn802Tyr) | |
| 7 | g.150948867T>C | CA369854705 | KCNH2 | n.3414A>G c.2581A>G (p.Asn861Asp) c.1561A>G (p.Asn521Asp) c.2281A>G (p.Asn761Asp) c.2431A>G (p.Asn811Asp) c.2404A>G (p.Asn802Asp) | |
| 7 | g.150948867T>G | CA006978 | KCNH2 | n.3414A>C c.2581A>C (p.Asn861His) c.1561A>C (p.Asn521His) c.2281A>C (p.Asn761His) c.2431A>C (p.Asn811His) c.2404A>C (p.Asn802His) | ClinVar dbSNP |
| 7 | g.150948867T= | CA1752431837 | KCNH2 | n.3414A= c.2581A= (p.Asn861=) c.1561A= (p.Asn521=) c.2281A= (p.Asn761=) c.2431A= (p.Asn811=) c.2404A= (p.Asn802=) | |
| 7 | g.150948868G>A | CA458645118 | KCNH2 | n.3413C>T c.2580C>T (p.Phe860=) c.1560C>T (p.Phe520=) c.2280C>T (p.Phe760=) c.2430C>T (p.Phe810=) c.2403C>T (p.Phe801=) | |
| 7 | g.150948868G>C | CA369854707 | KCNH2 | n.3413C>G c.2580C>G (p.Phe860Leu) c.1560C>G (p.Phe520Leu) c.2280C>G (p.Phe760Leu) c.2430C>G (p.Phe810Leu) c.2403C>G (p.Phe801Leu) | |
| 7 | g.150948868G>T | CA369854709 | KCNH2 | n.3413C>A c.2580C>A (p.Phe860Leu) c.1560C>A (p.Phe520Leu) c.2280C>A (p.Phe760Leu) c.2430C>A (p.Phe810Leu) c.2403C>A (p.Phe801Leu) | |
| 7 | g.150948869A>C | CA369854711 | KCNH2 | n.3412T>G c.2579T>G (p.Phe860Cys) c.1559T>G (p.Phe520Cys) c.2279T>G (p.Phe760Cys) c.2429T>G (p.Phe810Cys) c.2402T>G (p.Phe801Cys) | |
| 7 | g.150948869A>G | CA369854713 | KCNH2 | n.3412T>C c.2579T>C (p.Phe860Ser) c.1559T>C (p.Phe520Ser) c.2279T>C (p.Phe760Ser) c.2429T>C (p.Phe810Ser) c.2402T>C (p.Phe801Ser) | |
| 7 | g.150948869A>T | CA369854715 | KCNH2 | n.3412T>A c.2579T>A (p.Phe860Tyr) c.1559T>A (p.Phe520Tyr) c.2279T>A (p.Phe760Tyr) c.2429T>A (p.Phe810Tyr) c.2402T>A (p.Phe801Tyr) | |
| 7 | g.150948870A>C | CA369854716 | KCNH2 | n.3411T>G c.2578T>G (p.Phe860Val) c.1558T>G (p.Phe520Val) c.2278T>G (p.Phe760Val) c.2428T>G (p.Phe810Val) c.2401T>G (p.Phe801Val) | |
| 7 | g.150948870A>G | CA369854718 | KCNH2 | n.3411T>C c.2578T>C (p.Phe860Leu) c.1558T>C (p.Phe520Leu) c.2278T>C (p.Phe760Leu) c.2428T>C (p.Phe810Leu) c.2401T>C (p.Phe801Leu) | |
| 7 | g.150948870A>T | CA369854719 | KCNH2 | n.3411T>A c.2578T>A (p.Phe860Ile) c.1558T>A (p.Phe520Ile) c.2278T>A (p.Phe760Ile) c.2428T>A (p.Phe810Ile) c.2401T>A (p.Phe801Ile) | |
| 7 | g.150948871G>A | CA458645119 | KCNH2 | n.3410C>T c.2577C>T (p.Thr859=) c.1557C>T (p.Thr519=) c.2277C>T (p.Thr759=) c.2427C>T (p.Thr809=) c.2400C>T (p.Thr800=) | ClinVar gnomAD v4 |
| 7 | g.150948871G>C | CA458645120 | KCNH2 | n.3410C>G c.2577C>G (p.Thr859=) c.1557C>G (p.Thr519=) c.2277C>G (p.Thr759=) c.2427C>G (p.Thr809=) c.2400C>G (p.Thr800=) | ClinVar dbSNP |
| 7 | g.150948871G= | CA1752431843 | KCNH2 | n.3410C= c.2577C= (p.Thr859=) c.1557C= (p.Thr519=) c.2277C= (p.Thr759=) c.2427C= (p.Thr809=) c.2400C= (p.Thr800=) | |
| 7 | g.150948871G>T | CA16612188 | KCNH2 | n.3410C>A c.2577C>A (p.Thr859=) c.1557C>A (p.Thr519=) c.2277C>A (p.Thr759=) c.2427C>A (p.Thr809=) c.2400C>A (p.Thr800=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948872G>A | CA006952 | KCNH2 | n.3409C>T c.2576C>T (p.Thr859Ile) c.1556C>T (p.Thr519Ile) c.2276C>T (p.Thr759Ile) c.2426C>T (p.Thr809Ile) c.2399C>T (p.Thr800Ile) | ClinVar dbSNP |
| 7 | g.150948872G>C | CA369854721 | KCNH2 | n.3409C>G c.2576C>G (p.Thr859Ser) c.1556C>G (p.Thr519Ser) c.2276C>G (p.Thr759Ser) c.2426C>G (p.Thr809Ser) c.2399C>G (p.Thr800Ser) | |
| 7 | g.150948872G= | CA1752431846 | KCNH2 | n.3409C= c.2576C= (p.Thr859=) c.1556C= (p.Thr519=) c.2276C= (p.Thr759=) c.2426C= (p.Thr809=) c.2399C= (p.Thr800=) | |
| 7 | g.150948872G>T | CA369854722 | KCNH2 | n.3409C>A c.2576C>A (p.Thr859Asn) c.1556C>A (p.Thr519Asn) c.2276C>A (p.Thr759Asn) c.2426C>A (p.Thr809Asn) c.2399C>A (p.Thr800Asn) | |
| 7 | g.150948873T>A | CA369854724 | KCNH2 | n.3408A>T c.2575A>T (p.Thr859Ser) c.1555A>T (p.Thr519Ser) c.2275A>T (p.Thr759Ser) c.2425A>T (p.Thr809Ser) c.2398A>T (p.Thr800Ser) | |
| 7 | g.150948873T>C | CA369854726 | KCNH2 | n.3408A>G c.2575A>G (p.Thr859Ala) c.1555A>G (p.Thr519Ala) c.2275A>G (p.Thr759Ala) c.2425A>G (p.Thr809Ala) c.2398A>G (p.Thr800Ala) | |
| 7 | g.150948873T>G | CA369854728 | KCNH2 | n.3408A>C c.2575A>C (p.Thr859Pro) c.1555A>C (p.Thr519Pro) c.2275A>C (p.Thr759Pro) c.2425A>C (p.Thr809Pro) c.2398A>C (p.Thr800Pro) | |
| 7 | g.150948874G>A | CA458645121 | KCNH2 | n.3407C>T c.2574C>T (p.Ile858=) c.1554C>T (p.Ile518=) c.2274C>T (p.Ile758=) c.2424C>T (p.Ile808=) c.2397C>T (p.Ile799=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948874G>C | CA369854730 | KCNH2 | n.3407C>G c.2574C>G (p.Ile858Met) c.1554C>G (p.Ile518Met) c.2274C>G (p.Ile758Met) c.2424C>G (p.Ile808Met) c.2397C>G (p.Ile799Met) | |
| 7 | g.150948874G= | CA1752431850 | KCNH2 | n.3407C= c.2574C= (p.Ile858=) c.1554C= (p.Ile518=) c.2274C= (p.Ile758=) c.2424C= (p.Ile808=) c.2397C= (p.Ile799=) | |
| 7 | g.150948874G>T | CA458645122 | KCNH2 | n.3407C>A c.2574C>A (p.Ile858=) c.1554C>A (p.Ile518=) c.2274C>A (p.Ile758=) c.2424C>A (p.Ile808=) c.2397C>A (p.Ile799=) | |
| 7 | g.150948875A= | CA1752431852 | KCNH2 | n.3406T= c.2573T= (p.Ile858=) c.1553T= (p.Ile518=) c.2273T= (p.Ile758=) c.2423T= (p.Ile808=) c.2396T= (p.Ile799=) | |
| 7 | g.150948875A>C | CA369854732 | KCNH2 | n.3406T>G c.2573T>G (p.Ile858Ser) c.1553T>G (p.Ile518Ser) c.2273T>G (p.Ile758Ser) c.2423T>G (p.Ile808Ser) c.2396T>G (p.Ile799Ser) | |
| 7 | g.150948875A>G | CA006942 | KCNH2 | n.3406T>C c.2573T>C (p.Ile858Thr) c.1553T>C (p.Ile518Thr) c.2273T>C (p.Ile758Thr) c.2423T>C (p.Ile808Thr) c.2396T>C (p.Ile799Thr) | ClinVar dbSNP |
| 7 | g.150948875A>T | CA369854734 | KCNH2 | n.3406T>A c.2573T>A (p.Ile858Asn) c.1553T>A (p.Ile518Asn) c.2273T>A (p.Ile758Asn) c.2423T>A (p.Ile808Asn) c.2396T>A (p.Ile799Asn) | |
| 7 | g.150948876T>A | CA369854737 | KCNH2 | n.3405A>T c.2572A>T (p.Ile858Phe) c.1552A>T (p.Ile518Phe) c.2272A>T (p.Ile758Phe) c.2422A>T (p.Ile808Phe) c.2395A>T (p.Ile799Phe) | |
| 7 | g.150948876T>C | CA033047 | KCNH2 | n.3405A>G c.2572A>G (p.Ile858Val) c.1552A>G (p.Ile518Val) c.2272A>G (p.Ile758Val) c.2422A>G (p.Ile808Val) c.2395A>G (p.Ile799Val) | dbSNP ExAC gnomAD v2 |
| 7 | g.150948876T>G | CA369854739 | KCNH2 | n.3405A>C c.2572A>C (p.Ile858Leu) c.1552A>C (p.Ile518Leu) c.2272A>C (p.Ile758Leu) c.2422A>C (p.Ile808Leu) c.2395A>C (p.Ile799Leu) | |
| 7 | g.150948876T= | CA1752431856 | KCNH2 | n.3405A= c.2572A= (p.Ile858=) c.1552A= (p.Ile518=) c.2272A= (p.Ile758=) c.2422A= (p.Ile808=) c.2395A= (p.Ile799=) | |
| 7 | g.150948877C>A | CA369854741 | KCNH2 | n.3404G>T c.2571G>T (p.Glu857Asp) c.1551G>T (p.Glu517Asp) c.2271G>T (p.Glu757Asp) c.2421G>T (p.Glu807Asp) c.2394G>T (p.Glu798Asp) | |
| 7 | g.150948877C>G | CA369854743 | KCNH2 | n.3404G>C c.2571G>C (p.Glu857Asp) c.1551G>C (p.Glu517Asp) c.2271G>C (p.Glu757Asp) c.2421G>C (p.Glu807Asp) c.2394G>C (p.Glu798Asp) | |
| 7 | g.150948877C>T | CA458645123 | KCNH2 | n.3404G>A c.2571G>A (p.Glu857=) c.1551G>A (p.Glu517=) c.2271G>A (p.Glu757=) c.2421G>A (p.Glu807=) c.2394G>A (p.Glu798=) | gnomAD v4 |
| 7 | g.150948878T>A | CA369854746 | KCNH2 | n.3403A>T c.2570A>T (p.Glu857Val) c.1550A>T (p.Glu517Val) c.2270A>T (p.Glu757Val) c.2420A>T (p.Glu807Val) c.2393A>T (p.Glu798Val) | |
| 7 | g.150948878T>C | CA369854748 | KCNH2 | n.3403A>G c.2570A>G (p.Glu857Gly) c.1550A>G (p.Glu517Gly) c.2270A>G (p.Glu757Gly) c.2420A>G (p.Glu807Gly) c.2393A>G (p.Glu798Gly) | |
| 7 | g.150948878T>G | CA369854749 | KCNH2 | n.3403A>C c.2570A>C (p.Glu857Ala) c.1550A>C (p.Glu517Ala) c.2270A>C (p.Glu757Ala) c.2420A>C (p.Glu807Ala) c.2393A>C (p.Glu798Ala) | |
| 7 | g.150948879C>A | CA369854752 | KCNH2 | n.3402G>T c.2569G>T (p.Glu857Ter) c.1549G>T (p.Glu517Ter) c.2269G>T (p.Glu757Ter) c.2419G>T (p.Glu807Ter) c.2392G>T (p.Glu798Ter) | |
| 7 | g.150948879C>G | CA369854753 | KCNH2 | n.3402G>C c.2569G>C (p.Glu857Gln) c.1549G>C (p.Glu517Gln) c.2269G>C (p.Glu757Gln) c.2419G>C (p.Glu807Gln) c.2392G>C (p.Glu798Gln) | |
| 7 | g.150948879C>T | CA369854754 | KCNH2 | n.3402G>A c.2569G>A (p.Glu857Lys) c.1549G>A (p.Glu517Lys) c.2269G>A (p.Glu757Lys) c.2419G>A (p.Glu807Lys) c.2392G>A (p.Glu798Lys) | COSMIC COSMIC |
| 7 | g.150948880C>A | CA458645125 | KCNH2 | n.3401G>T c.2568G>T (p.Leu856=) c.1548G>T (p.Leu516=) c.2268G>T (p.Leu756=) c.2418G>T (p.Leu806=) c.2391G>T (p.Leu797=) | |
| 7 | g.150948880C= | CA1752431858 | KCNH2 | n.3401G= c.2568G= (p.Leu856=) c.1548G= (p.Leu516=) c.2268G= (p.Leu756=) c.2418G= (p.Leu806=) c.2391G= (p.Leu797=) | |
| 7 | g.150948880C>G | CA458645124 | KCNH2 | n.3401G>C c.2568G>C (p.Leu856=) c.1548G>C (p.Leu516=) c.2268G>C (p.Leu756=) c.2418G>C (p.Leu806=) c.2391G>C (p.Leu797=) | |
| 7 | g.150948880C>T | CA458645126 | KCNH2 | n.3401G>A c.2568G>A (p.Leu856=) c.1548G>A (p.Leu516=) c.2268G>A (p.Leu756=) c.2418G>A (p.Leu806=) c.2391G>A (p.Leu797=) | dbSNP gnomAD v2 gnomAD v4 |