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.150948854A>C | CA369854655 | KCNH2 | n.3425+2T>G c.2592+2T>G (n.2592+2T>G) c.1572+2T>G (n.1572+2T>G) c.2292+2T>G (n.2292+2T>G) c.2442+2T>G (n.2442+2T>G) c.2415+2T>G (n.2415+2T>G) | |
7 | g.150948854A>G | CA369854658 | KCNH2 | n.3425+2T>C c.2592+2T>C (n.2592+2T>C) c.1572+2T>C (n.1572+2T>C) c.2292+2T>C (n.2292+2T>C) c.2442+2T>C (n.2442+2T>C) c.2415+2T>C (n.2415+2T>C) | |
7 | g.150948854A>T | CA369854657 | KCNH2 | n.3425+2T>A c.2592+2T>A (n.2592+2T>A) c.1572+2T>A (n.1572+2T>A) c.2292+2T>A (n.2292+2T>A) c.2442+2T>A (n.2442+2T>A) c.2415+2T>A (n.2415+2T>A) | |
7 | g.150948855del | CA2685600755 | KCNH2 | n.3425+1del c.2592+1del (n.2592+1del) c.1572+1del (n.1572+1del) c.2292+1del (n.2292+1del) c.2442+1del (n.2442+1del) c.2415+1del (n.2415+1del) | gnomAD v4 |
7 | g.150948855C>A | CA369854661 | KCNH2 | n.3425+1G>T c.2592+1G>T (n.2592+1G>T) c.1572+1G>T (n.1572+1G>T) c.2292+1G>T (n.2292+1G>T) c.2442+1G>T (n.2442+1G>T) c.2415+1G>T (n.2415+1G>T) | |
7 | g.150948855C= | CA1752431795 | KCNH2 | n.3425+1G= c.2592+1G= (n.2592+1G=) c.1572+1G= (n.1572+1G=) c.2292+1G= (n.2292+1G=) c.2442+1G= (n.2442+1G=) c.2415+1G= (n.2415+1G=) | |
7 | g.150948855C>G | CA369854663 | KCNH2 | n.3425+1G>C c.2592+1G>C (n.2592+1G>C) c.1572+1G>C (n.1572+1G>C) c.2292+1G>C (n.2292+1G>C) c.2442+1G>C (n.2442+1G>C) c.2415+1G>C (n.2415+1G>C) | |
7 | g.150948855C>T | CA369854665 | KCNH2 | n.3425+1G>A c.2592+1G>A (n.2592+1G>A) c.1572+1G>A (n.1572+1G>A) c.2292+1G>A (n.2292+1G>A) c.2442+1G>A (n.2442+1G>A) c.2415+1G>A (n.2415+1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.150948856A>C | CA369854668 | KCNH2 | n.3425T>G c.2592T>G (p.Asp864Glu) c.1572T>G (p.Asp524Glu) c.2292T>G (p.Asp764Glu) c.2442T>G (p.Asp814Glu) c.2415T>G (p.Asp805Glu) | |
7 | g.150948856A>G | CA458645109 | KCNH2 | n.3425T>C c.2592T>C (p.Asp864=) c.1572T>C (p.Asp524=) c.2292T>C (p.Asp764=) c.2442T>C (p.Asp814=) c.2415T>C (p.Asp805=) | ClinVar dbSNP |
7 | g.150948856A>T | CA369854669 | KCNH2 | n.3425T>A c.2592T>A (p.Asp864Glu) c.1572T>A (p.Asp524Glu) c.2292T>A (p.Asp764Glu) c.2442T>A (p.Asp814Glu) c.2415T>A (p.Asp805Glu) | |
7 | g.150948857T>A | CA369854672 | KCNH2 | n.3424A>T c.2591A>T (p.Asp864Val) c.1571A>T (p.Asp524Val) c.2291A>T (p.Asp764Val) c.2441A>T (p.Asp814Val) c.2414A>T (p.Asp805Val) | |
7 | g.150948857T>C | CA007016 | KCNH2 | n.3424A>G c.2591A>G (p.Asp864Gly) c.1571A>G (p.Asp524Gly) c.2291A>G (p.Asp764Gly) c.2441A>G (p.Asp814Gly) c.2414A>G (p.Asp805Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150948857T>G | CA369854673 | KCNH2 | n.3424A>C c.2591A>C (p.Asp864Ala) c.1571A>C (p.Asp524Ala) c.2291A>C (p.Asp764Ala) c.2441A>C (p.Asp814Ala) c.2414A>C (p.Asp805Ala) | |
7 | g.150948857T= | CA1752431797 | KCNH2 | n.3424A= c.2591A= (p.Asp864=) c.1571A= (p.Asp524=) c.2291A= (p.Asp764=) c.2441A= (p.Asp814=) c.2414A= (p.Asp805=) | |
7 | g.150948858C>A | CA369854675 | KCNH2 | n.3423G>T c.2590G>T (p.Asp864Tyr) c.1570G>T (p.Asp524Tyr) c.2290G>T (p.Asp764Tyr) c.2440G>T (p.Asp814Tyr) c.2413G>T (p.Asp805Tyr) | dbSNP |
7 | g.150948858C= | CA1752431802 | KCNH2 | n.3423G= c.2590G= (p.Asp864=) c.1570G= (p.Asp524=) c.2290G= (p.Asp764=) c.2440G= (p.Asp814=) c.2413G= (p.Asp805=) | |
7 | g.150948858C>G | CA369854677 | KCNH2 | n.3423G>C c.2590G>C (p.Asp864His) c.1570G>C (p.Asp524His) c.2290G>C (p.Asp764His) c.2440G>C (p.Asp814His) c.2413G>C (p.Asp805His) | |
7 | g.150948858C>T | CA369854679 | KCNH2 | n.3423G>A c.2590G>A (p.Asp864Asn) c.1570G>A (p.Asp524Asn) c.2290G>A (p.Asp764Asn) c.2440G>A (p.Asp814Asn) c.2413G>A (p.Asp805Asn) | |
7 | g.150948859T>A | CA458645111 | KCNH2 | n.3422A>T c.2589A>T (p.Arg863=) c.1569A>T (p.Arg523=) c.2289A>T (p.Arg763=) c.2439A>T (p.Arg813=) c.2412A>T (p.Arg804=) | |
7 | g.150948859T>C | CA169074683 | KCNH2 | n.3422A>G c.2589A>G (p.Arg863=) c.1569A>G (p.Arg523=) c.2289A>G (p.Arg763=) c.2439A>G (p.Arg813=) c.2412A>G (p.Arg804=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948859T>G | CA458645110 | KCNH2 | n.3422A>C c.2589A>C (p.Arg863=) c.1569A>C (p.Arg523=) c.2289A>C (p.Arg763=) c.2439A>C (p.Arg813=) c.2412A>C (p.Arg804=) | |
7 | g.150948859T= | CA1752431810 | KCNH2 | n.3422A= c.2589A= (p.Arg863=) c.1569A= (p.Arg523=) c.2289A= (p.Arg763=) c.2439A= (p.Arg813=) c.2412A= (p.Arg804=) | |
7 | g.150948860C>A | CA369854682 | KCNH2 | n.3421G>T c.2588G>T (p.Arg863Leu) c.1568G>T (p.Arg523Leu) c.2288G>T (p.Arg763Leu) c.2438G>T (p.Arg813Leu) c.2411G>T (p.Arg804Leu) | |
7 | g.150948860C= | CA1752431812 | KCNH2 | n.3421G= c.2588G= (p.Arg863=) c.1568G= (p.Arg523=) c.2288G= (p.Arg763=) c.2438G= (p.Arg813=) c.2411G= (p.Arg804=) | |
7 | g.150948860C>G | CA369854680 | KCNH2 | n.3421G>C c.2588G>C (p.Arg863Pro) c.1568G>C (p.Arg523Pro) c.2288G>C (p.Arg763Pro) c.2438G>C (p.Arg813Pro) c.2411G>C (p.Arg804Pro) | |
7 | g.150948860C>T | CA169074695 | KCNH2 | n.3421G>A c.2588G>A (p.Arg863Gln) c.1568G>A (p.Arg523Gln) c.2288G>A (p.Arg763Gln) c.2438G>A (p.Arg813Gln) c.2411G>A (p.Arg804Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150948861G>A | CA033069 | KCNH2 | n.3420C>T c.2587C>T (p.Arg863Ter) c.1567C>T (p.Arg523Ter) c.2287C>T (p.Arg763Ter) c.2437C>T (p.Arg813Ter) c.2410C>T (p.Arg804Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150948861G>C | CA369854684 | KCNH2 | n.3420C>G c.2587C>G (p.Arg863Gly) c.1567C>G (p.Arg523Gly) c.2287C>G (p.Arg763Gly) c.2437C>G (p.Arg813Gly) c.2410C>G (p.Arg804Gly) | |
7 | g.150948861G= | CA1752431815 | KCNH2 | n.3420C= c.2587C= (p.Arg863=) c.1567C= (p.Arg523=) c.2287C= (p.Arg763=) c.2437C= (p.Arg813=) c.2410C= (p.Arg804=) | |
7 | g.150948861G>T | CA458645112 | KCNH2 | n.3420C>A c.2587C>A (p.Arg863=) c.1567C>A (p.Arg523=) c.2287C>A (p.Arg763=) c.2437C>A (p.Arg813=) c.2410C>A (p.Arg804=) | |
7 | g.150948862C>A | CA458645113 | KCNH2 | n.3419G>T c.2586G>T (p.Leu862=) c.1566G>T (p.Leu522=) c.2286G>T (p.Leu762=) c.2436G>T (p.Leu812=) c.2409G>T (p.Leu803=) | |
7 | g.150948862C= | CA1752431820 | KCNH2 | n.3419G= c.2586G= (p.Leu862=) c.1566G= (p.Leu522=) c.2286G= (p.Leu762=) c.2436G= (p.Leu812=) c.2409G= (p.Leu803=) | |
7 | g.150948862C>G | CA458645114 | KCNH2 | n.3419G>C c.2586G>C (p.Leu862=) c.1566G>C (p.Leu522=) c.2286G>C (p.Leu762=) c.2436G>C (p.Leu812=) c.2409G>C (p.Leu803=) | |
7 | g.150948862C>T | CA458645115 | KCNH2 | n.3419G>A c.2586G>A (p.Leu862=) c.1566G>A (p.Leu522=) c.2286G>A (p.Leu762=) c.2436G>A (p.Leu812=) c.2409G>A (p.Leu803=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948863A>C | CA369854687 | KCNH2 | n.3418T>G c.2585T>G (p.Leu862Arg) c.1565T>G (p.Leu522Arg) c.2285T>G (p.Leu762Arg) c.2435T>G (p.Leu812Arg) c.2408T>G (p.Leu803Arg) | |
7 | g.150948863A>G | CA369854689 | KCNH2 | n.3418T>C c.2585T>C (p.Leu862Pro) c.1565T>C (p.Leu522Pro) c.2285T>C (p.Leu762Pro) c.2435T>C (p.Leu812Pro) c.2408T>C (p.Leu803Pro) | |
7 | g.150948863A>T | CA369854690 | KCNH2 | n.3418T>A c.2585T>A (p.Leu862Gln) c.1565T>A (p.Leu522Gln) c.2285T>A (p.Leu762Gln) c.2435T>A (p.Leu812Gln) c.2408T>A (p.Leu803Gln) | |
7 | g.150948864G>A | CA458645116 | KCNH2 | n.3417C>T c.2584C>T (p.Leu862=) c.1564C>T (p.Leu522=) c.2284C>T (p.Leu762=) c.2434C>T (p.Leu812=) c.2407C>T (p.Leu803=) | ClinVar dbSNP |
7 | g.150948864G>C | CA369854692 | KCNH2 | n.3417C>G c.2584C>G (p.Leu862Val) c.1564C>G (p.Leu522Val) c.2284C>G (p.Leu762Val) c.2434C>G (p.Leu812Val) c.2407C>G (p.Leu803Val) | |
7 | g.150948864G= | CA1752431826 | KCNH2 | n.3417C= c.2584C= (p.Leu862=) c.1564C= (p.Leu522=) c.2284C= (p.Leu762=) c.2434C= (p.Leu812=) c.2407C= (p.Leu803=) | |
7 | g.150948864G>T | CA369854694 | KCNH2 | n.3417C>A c.2584C>A (p.Leu862Met) c.1564C>A (p.Leu522Met) c.2284C>A (p.Leu762Met) c.2434C>A (p.Leu812Met) c.2407C>A (p.Leu803Met) | |
7 | g.150948865G>A | CA458645117 | KCNH2 | n.3416C>T c.2583C>T (p.Asn861=) c.1563C>T (p.Asn521=) c.2283C>T (p.Asn761=) c.2433C>T (p.Asn811=) c.2406C>T (p.Asn802=) | |
7 | g.150948865G>C | CA369854696 | KCNH2 | n.3416C>G c.2583C>G (p.Asn861Lys) c.1563C>G (p.Asn521Lys) c.2283C>G (p.Asn761Lys) c.2433C>G (p.Asn811Lys) c.2406C>G (p.Asn802Lys) | |
7 | g.150948865G>T | CA369854698 | KCNH2 | n.3416C>A c.2583C>A (p.Asn861Lys) c.1563C>A (p.Asn521Lys) c.2283C>A (p.Asn761Lys) c.2433C>A (p.Asn811Lys) c.2406C>A (p.Asn802Lys) | |
7 | g.150948866T>A | CA007008 | KCNH2 | n.3415A>T c.2582A>T (p.Asn861Ile) c.1562A>T (p.Asn521Ile) c.2282A>T (p.Asn761Ile) c.2432A>T (p.Asn811Ile) c.2405A>T (p.Asn802Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150948866T>C | CA006998 | KCNH2 | n.3415A>G c.2582A>G (p.Asn861Ser) c.1562A>G (p.Asn521Ser) c.2282A>G (p.Asn761Ser) c.2432A>G (p.Asn811Ser) c.2405A>G (p.Asn802Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948866T>G | CA006990 | KCNH2 | n.3415A>C c.2582A>C (p.Asn861Thr) c.1562A>C (p.Asn521Thr) c.2282A>C (p.Asn761Thr) c.2432A>C (p.Asn811Thr) c.2405A>C (p.Asn802Thr) | ClinVar dbSNP |
7 | g.150948866T= | CA1752431832 | KCNH2 | n.3415A= c.2582A= (p.Asn861=) c.1562A= (p.Asn521=) c.2282A= (p.Asn761=) c.2432A= (p.Asn811=) c.2405A= (p.Asn802=) |