Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150948828G>ACA2685600746KCNH2n.3425+28C>T
c.2592+28C>T (n.2592+28C>T)
c.1572+28C>T (n.1572+28C>T)
c.2292+28C>T (n.2292+28C>T)
c.2442+28C>T (n.2442+28C>T)
c.2415+28C>T (n.2415+28C>T)
 gnomAD v4
7g.150948831delCA2579062655KCNH2n.3425+28del
c.2592+28del (n.2592+28del)
c.1572+28del (n.1572+28del)
c.2292+28del (n.2292+28del)
c.2442+28del (n.2442+28del)
c.2415+28del (n.2415+28del)
7g.150948829G>CCA1752431774KCNH2n.3425+27C>G
c.2592+27C>G (n.2592+27C>G)
c.1572+27C>G (n.1572+27C>G)
c.2292+27C>G (n.2292+27C>G)
c.2442+27C>G (n.2442+27C>G)
c.2415+27C>G (n.2415+27C>G)
 dbSNP
7g.150948829G=CA1752431773KCNH2n.3425+27C=
c.2592+27C= (n.2592+27C=)
c.1572+27C= (n.1572+27C=)
c.2292+27C= (n.2292+27C=)
c.2442+27C= (n.2442+27C=)
c.2415+27C= (n.2415+27C=)
7g.150948830G>ACA2685600747KCNH2n.3425+26C>T
c.2592+26C>T (n.2592+26C>T)
c.1572+26C>T (n.1572+26C>T)
c.2292+26C>T (n.2292+26C>T)
c.2442+26C>T (n.2442+26C>T)
c.2415+26C>T (n.2415+26C>T)
 gnomAD v4
7g.150948830G>TCA2685600748KCNH2n.3425+26C>A
c.2592+26C>A (n.2592+26C>A)
c.1572+26C>A (n.1572+26C>A)
c.2292+26C>A (n.2292+26C>A)
c.2442+26C>A (n.2442+26C>A)
c.2415+26C>A (n.2415+26C>A)
 gnomAD v4
7g.150948831G>ACA2685600749KCNH2n.3425+25C>T
c.2592+25C>T (n.2592+25C>T)
c.1572+25C>T (n.1572+25C>T)
c.2292+25C>T (n.2292+25C>T)
c.2442+25C>T (n.2442+25C>T)
c.2415+25C>T (n.2415+25C>T)
 gnomAD v4
7g.150948831G>CCA2685600750KCNH2n.3425+25C>G
c.2592+25C>G (n.2592+25C>G)
c.1572+25C>G (n.1572+25C>G)
c.2292+25C>G (n.2292+25C>G)
c.2442+25C>G (n.2442+25C>G)
c.2415+25C>G (n.2415+25C>G)
 gnomAD v4
7g.150948831G>TCA2685600751KCNH2n.3425+25C>A
c.2592+25C>A (n.2592+25C>A)
c.1572+25C>A (n.1572+25C>A)
c.2292+25C>A (n.2292+25C>A)
c.2442+25C>A (n.2442+25C>A)
c.2415+25C>A (n.2415+25C>A)
 gnomAD v4
7g.150948832T>CCA1752431776KCNH2n.3425+24A>G
c.2592+24A>G (n.2592+24A>G)
c.1572+24A>G (n.1572+24A>G)
c.2292+24A>G (n.2292+24A>G)
c.2442+24A>G (n.2442+24A>G)
c.2415+24A>G (n.2415+24A>G)
 dbSNP gnomAD v4
7g.150948832T=CA1752431775KCNH2n.3425+24A=
c.2592+24A= (n.2592+24A=)
c.1572+24A= (n.1572+24A=)
c.2292+24A= (n.2292+24A=)
c.2442+24A= (n.2442+24A=)
c.2415+24A= (n.2415+24A=)
7g.150948834C=CA1752431778KCNH2n.3425+22G=
c.2592+22G= (n.2592+22G=)
c.1572+22G= (n.1572+22G=)
c.2292+22G= (n.2292+22G=)
c.2442+22G= (n.2442+22G=)
c.2415+22G= (n.2415+22G=)
7g.150948834C>TCA835223764KCNH2n.3425+22G>A
c.2592+22G>A (n.2592+22G>A)
c.1572+22G>A (n.1572+22G>A)
c.2292+22G>A (n.2292+22G>A)
c.2442+22G>A (n.2442+22G>A)
c.2415+22G>A (n.2415+22G>A)
 dbSNP gnomAD v3 gnomAD v4
7g.150948839C=CA1752431779KCNH2n.3425+17G=
c.2592+17G= (n.2592+17G=)
c.1572+17G= (n.1572+17G=)
c.2292+17G= (n.2292+17G=)
c.2442+17G= (n.2442+17G=)
c.2415+17G= (n.2415+17G=)
7g.150948839C>TCA1752431780KCNH2n.3425+17G>A
c.2592+17G>A (n.2592+17G>A)
c.1572+17G>A (n.1572+17G>A)
c.2292+17G>A (n.2292+17G>A)
c.2442+17G>A (n.2442+17G>A)
c.2415+17G>A (n.2415+17G>A)
 ClinVar dbSNP gnomAD v4
7g.150948840A>TCA2740094949KCNH2n.3425+16T>A
c.2592+16T>A (n.2592+16T>A)
c.1572+16T>A (n.1572+16T>A)
c.2292+16T>A (n.2292+16T>A)
c.2442+16T>A (n.2442+16T>A)
c.2415+16T>A (n.2415+16T>A)
 ClinVar
7g.150948842G>ACA458645108KCNH2n.3425+14C>T
c.2592+14C>T (n.2592+14C>T)
c.1572+14C>T (n.1572+14C>T)
c.2292+14C>T (n.2292+14C>T)
c.2442+14C>T (n.2442+14C>T)
c.2415+14C>T (n.2415+14C>T)
 gnomAD v4
7g.150948843G>ACA2685600752KCNH2n.3425+13C>T
c.2592+13C>T (n.2592+13C>T)
c.1572+13C>T (n.1572+13C>T)
c.2292+13C>T (n.2292+13C>T)
c.2442+13C>T (n.2442+13C>T)
c.2415+13C>T (n.2415+13C>T)
 gnomAD v4
7g.150948844C>TCA2685600753KCNH2n.3425+12G>A
c.2592+12G>A (n.2592+12G>A)
c.1572+12G>A (n.1572+12G>A)
c.2292+12G>A (n.2292+12G>A)
c.2442+12G>A (n.2442+12G>A)
c.2415+12G>A (n.2415+12G>A)
 gnomAD v4
7g.150948845A=CA1752431781KCNH2n.3425+11T=
c.2592+11T= (n.2592+11T=)
c.1572+11T= (n.1572+11T=)
c.2292+11T= (n.2292+11T=)
c.2442+11T= (n.2442+11T=)
c.2415+11T= (n.2415+11T=)
7g.150948845A>GCA033107KCNH2n.3425+11T>C
c.2592+11T>C (n.2592+11T>C)
c.1572+11T>C (n.1572+11T>C)
c.2292+11T>C (n.2292+11T>C)
c.2442+11T>C (n.2442+11T>C)
c.2415+11T>C (n.2415+11T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.150948846G>CCA033089KCNH2n.3425+10C>G
c.2592+10C>G (n.2592+10C>G)
c.1572+10C>G (n.1572+10C>G)
c.2292+10C>G (n.2292+10C>G)
c.2442+10C>G (n.2442+10C>G)
c.2415+10C>G (n.2415+10C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948846G=CA1752431785KCNH2n.3425+10C=
c.2592+10C= (n.2592+10C=)
c.1572+10C= (n.1572+10C=)
c.2292+10C= (n.2292+10C=)
c.2442+10C= (n.2442+10C=)
c.2415+10C= (n.2415+10C=)
7g.150948847C>ACA579075365KCNH2n.3425+9G>T
c.2592+9G>T (n.2592+9G>T)
c.1572+9G>T (n.1572+9G>T)
c.2292+9G>T (n.2292+9G>T)
c.2442+9G>T (n.2442+9G>T)
c.2415+9G>T (n.2415+9G>T)
 dbSNP gnomAD v2 gnomAD v4
7g.150948847C=CA1752431786KCNH2n.3425+9G=
c.2592+9G= (n.2592+9G=)
c.1572+9G= (n.1572+9G=)
c.2292+9G= (n.2292+9G=)
c.2442+9G= (n.2442+9G=)
c.2415+9G= (n.2415+9G=)
7g.150948847C>TCA2697557668KCNH2n.3425+9G>A
c.2592+9G>A (n.2592+9G>A)
c.1572+9G>A (n.1572+9G>A)
c.2292+9G>A (n.2292+9G>A)
c.2442+9G>A (n.2442+9G>A)
c.2415+9G>A (n.2415+9G>A)
 ClinVar
7g.150948848C>TCA2739278691KCNH2n.3425+8G>A
c.2592+8G>A (n.2592+8G>A)
c.1572+8G>A (n.1572+8G>A)
c.2292+8G>A (n.2292+8G>A)
c.2442+8G>A (n.2442+8G>A)
c.2415+8G>A (n.2415+8G>A)
 ClinVar
7g.150948850A>GCA2685600754KCNH2n.3425+6T>C
c.2592+6T>C (n.2592+6T>C)
c.1572+6T>C (n.1572+6T>C)
c.2292+6T>C (n.2292+6T>C)
c.2442+6T>C (n.2442+6T>C)
c.2415+6T>C (n.2415+6T>C)
 gnomAD v4
7g.150948851C=CA1752431787KCNH2n.3425+5G=
c.2592+5G= (n.2592+5G=)
c.1572+5G= (n.1572+5G=)
c.2292+5G= (n.2292+5G=)
c.2442+5G= (n.2442+5G=)
c.2415+5G= (n.2415+5G=)
7g.150948851C>TCA579075378KCNH2n.3425+5G>A
c.2592+5G>A (n.2592+5G>A)
c.1572+5G>A (n.1572+5G>A)
c.2292+5G>A (n.2292+5G>A)
c.2442+5G>A (n.2442+5G>A)
c.2415+5G>A (n.2415+5G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.150948853C=CA1752431790KCNH2n.3425+3G=
c.2592+3G= (n.2592+3G=)
c.1572+3G= (n.1572+3G=)
c.2292+3G= (n.2292+3G=)
c.2442+3G= (n.2442+3G=)
c.2415+3G= (n.2415+3G=)
7g.150948853C>TCA16609735KCNH2n.3425+3G>A
c.2592+3G>A (n.2592+3G>A)
c.1572+3G>A (n.1572+3G>A)
c.2292+3G>A (n.2292+3G>A)
c.2442+3G>A (n.2442+3G>A)
c.2415+3G>A (n.2415+3G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948854A>CCA369854655KCNH2n.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)
7g.150948854A>GCA369854658KCNH2n.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)
7g.150948854A>TCA369854657KCNH2n.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)
7g.150948855delCA2685600755KCNH2n.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
7g.150948855C>ACA369854661KCNH2n.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)
7g.150948855C=CA1752431795KCNH2n.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=)
7g.150948855C>GCA369854663KCNH2n.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)
7g.150948855C>TCA369854665KCNH2n.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
7g.150948856A>CCA369854668KCNH2n.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)
7g.150948856A>GCA458645109KCNH2n.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
7g.150948856A>TCA369854669KCNH2n.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)
7g.150948857T>ACA369854672KCNH2n.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)
7g.150948857T>CCA007016KCNH2n.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
7g.150948857T>GCA369854673KCNH2n.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)
7g.150948857T=CA1752431797KCNH2n.3424A=
c.2591A= (p.Asp864=)
c.1571A= (p.Asp524=)
c.2291A= (p.Asp764=)
c.2441A= (p.Asp814=)
c.2414A= (p.Asp805=)
7g.150948858C>ACA369854675KCNH2n.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
7g.150948858C=CA1752431802KCNH2n.3423G=
c.2590G= (p.Asp864=)
c.1570G= (p.Asp524=)
c.2290G= (p.Asp764=)
c.2440G= (p.Asp814=)
c.2413G= (p.Asp805=)
7g.150948858C>GCA369854677KCNH2n.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)
7g.150948858C>TCA369854679KCNH2n.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)
7g.150948859T>ACA458645111KCNH2n.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=)
7g.150948859T>CCA169074683KCNH2n.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
7g.150948859T>GCA458645110KCNH2n.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=)
7g.150948859T=CA1752431810KCNH2n.3422A=
c.2589A= (p.Arg863=)
c.1569A= (p.Arg523=)
c.2289A= (p.Arg763=)
c.2439A= (p.Arg813=)
c.2412A= (p.Arg804=)
7g.150948860C>ACA369854682KCNH2n.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)
7g.150948860C=CA1752431812KCNH2n.3421G=
c.2588G= (p.Arg863=)
c.1568G= (p.Arg523=)
c.2288G= (p.Arg763=)
c.2438G= (p.Arg813=)
c.2411G= (p.Arg804=)
7g.150948860C>GCA369854680KCNH2n.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)
7g.150948860C>TCA169074695KCNH2n.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
7g.150948861G>ACA033069KCNH2n.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
7g.150948861G>CCA369854684KCNH2n.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)
7g.150948861G=CA1752431815KCNH2n.3420C=
c.2587C= (p.Arg863=)
c.1567C= (p.Arg523=)
c.2287C= (p.Arg763=)
c.2437C= (p.Arg813=)
c.2410C= (p.Arg804=)
7g.150948861G>TCA458645112KCNH2n.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=)
 ClinVar
7g.150948862C>ACA458645113KCNH2n.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=)
7g.150948862C=CA1752431820KCNH2n.3419G=
c.2586G= (p.Leu862=)
c.1566G= (p.Leu522=)
c.2286G= (p.Leu762=)
c.2436G= (p.Leu812=)
c.2409G= (p.Leu803=)
7g.150948862C>GCA458645114KCNH2n.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=)
7g.150948862C>TCA458645115KCNH2n.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
7g.150948863A>CCA369854687KCNH2n.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)
7g.150948863A>GCA369854689KCNH2n.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)
7g.150948863A>TCA369854690KCNH2n.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)
7g.150948864G>ACA458645116KCNH2n.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
7g.150948864G>CCA369854692KCNH2n.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)
7g.150948864G=CA1752431826KCNH2n.3417C=
c.2584C= (p.Leu862=)
c.1564C= (p.Leu522=)
c.2284C= (p.Leu762=)
c.2434C= (p.Leu812=)
c.2407C= (p.Leu803=)
7g.150948864G>TCA369854694KCNH2n.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)
7g.150948865G>ACA458645117KCNH2n.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=)
7g.150948865G>CCA369854696KCNH2n.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)
7g.150948865G>TCA369854698KCNH2n.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)
7g.150948866T>ACA007008KCNH2n.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
7g.150948866T>CCA006998KCNH2n.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
7g.150948866T>GCA006990KCNH2n.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
7g.150948866T=CA1752431832KCNH2n.3415A=
c.2582A= (p.Asn861=)
c.1562A= (p.Asn521=)
c.2282A= (p.Asn761=)
c.2432A= (p.Asn811=)
c.2405A= (p.Asn802=)
7g.150948867T>ACA369854703KCNH2n.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)
7g.150948867T>CCA369854705KCNH2n.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)
7g.150948867T>GCA006978KCNH2n.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
7g.150948867T=CA1752431837KCNH2n.3414A=
c.2581A= (p.Asn861=)
c.1561A= (p.Asn521=)
c.2281A= (p.Asn761=)
c.2431A= (p.Asn811=)
c.2404A= (p.Asn802=)
7g.150948868G>ACA458645118KCNH2n.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=)
7g.150948868G>CCA369854707KCNH2n.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)
7g.150948868G>TCA369854709KCNH2n.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)
7g.150948869A>CCA369854711KCNH2n.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)
7g.150948869A>GCA369854713KCNH2n.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)
7g.150948869A>TCA369854715KCNH2n.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)
7g.150948870A>CCA369854716KCNH2n.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)
7g.150948870A>GCA369854718KCNH2n.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)
7g.150948870A>TCA369854719KCNH2n.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)
7g.150948871G>ACA458645119KCNH2n.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
7g.150948871G>CCA458645120KCNH2n.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
7g.150948871G=CA1752431843KCNH2n.3410C=
c.2577C= (p.Thr859=)
c.1557C= (p.Thr519=)
c.2277C= (p.Thr759=)
c.2427C= (p.Thr809=)
c.2400C= (p.Thr800=)
7g.150948871G>TCA16612188KCNH2n.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
7g.150948872G>ACA006952KCNH2n.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
7g.150948872G>CCA369854721KCNH2n.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)
7g.150948872G=CA1752431846KCNH2n.3409C=
c.2576C= (p.Thr859=)
c.1556C= (p.Thr519=)
c.2276C= (p.Thr759=)
c.2426C= (p.Thr809=)
c.2399C= (p.Thr800=)
7g.150948872G>TCA369854722KCNH2n.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)
7g.150948873T>ACA369854724KCNH2n.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)
7g.150948873T>CCA369854726KCNH2n.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)
7g.150948873T>GCA369854728KCNH2n.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)
7g.150948874G>ACA458645121KCNH2n.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
7g.150948874G>CCA369854730KCNH2n.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)
7g.150948874G=CA1752431850KCNH2n.3407C=
c.2574C= (p.Ile858=)
c.1554C= (p.Ile518=)
c.2274C= (p.Ile758=)
c.2424C= (p.Ile808=)
c.2397C= (p.Ile799=)
7g.150948874G>TCA458645122KCNH2n.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=)
7g.150948875A=CA1752431852KCNH2n.3406T=
c.2573T= (p.Ile858=)
c.1553T= (p.Ile518=)
c.2273T= (p.Ile758=)
c.2423T= (p.Ile808=)
c.2396T= (p.Ile799=)
7g.150948875A>CCA369854732KCNH2n.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)
7g.150948875A>GCA006942KCNH2n.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
7g.150948875A>TCA369854734KCNH2n.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)
7g.150948876T>ACA369854737KCNH2n.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)
7g.150948876T>CCA033047KCNH2n.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
7g.150948876T>GCA369854739KCNH2n.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)
7g.150948876T=CA1752431856KCNH2n.3405A=
c.2572A= (p.Ile858=)
c.1552A= (p.Ile518=)
c.2272A= (p.Ile758=)
c.2422A= (p.Ile808=)
c.2395A= (p.Ile799=)
7g.150948877C>ACA369854741KCNH2n.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)
7g.150948877C>GCA369854743KCNH2n.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)
7g.150948877C>TCA458645123KCNH2n.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
7g.150948878T>ACA369854746KCNH2n.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)
7g.150948878T>CCA369854748KCNH2n.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)
7g.150948878T>GCA369854749KCNH2n.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)
7g.150948879C>ACA369854752KCNH2n.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)
7g.150948879C>GCA369854753KCNH2n.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)
7g.150948879C>TCA369854754KCNH2n.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
7g.150948880C>ACA458645125KCNH2n.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=)
7g.150948880C=CA1752431858KCNH2n.3401G=
c.2568G= (p.Leu856=)
c.1548G= (p.Leu516=)
c.2268G= (p.Leu756=)
c.2418G= (p.Leu806=)
c.2391G= (p.Leu797=)
7g.150948880C>GCA458645124KCNH2n.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=)
7g.150948880C>TCA458645126KCNH2n.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
7g.150948881A>CCA369854755KCNH2n.3400T>G
c.2567T>G (p.Leu856Arg)
c.1547T>G (p.Leu516Arg)
c.2267T>G (p.Leu756Arg)
c.2417T>G (p.Leu806Arg)
c.2390T>G (p.Leu797Arg)
7g.150948881A>GCA369854756KCNH2n.3400T>C
c.2567T>C (p.Leu856Pro)
c.1547T>C (p.Leu516Pro)
c.2267T>C (p.Leu756Pro)
c.2417T>C (p.Leu806Pro)
c.2390T>C (p.Leu797Pro)
7g.150948881A>TCA369854757KCNH2n.3400T>A
c.2567T>A (p.Leu856Gln)
c.1547T>A (p.Leu516Gln)
c.2267T>A (p.Leu756Gln)
c.2417T>A (p.Leu806Gln)
c.2390T>A (p.Leu797Gln)
7g.150948881dupCA2580077784KCNH2n.3400dup
c.2567dup (p.Glu857GlyfsTer?)
c.1547dup (p.Glu517GlyfsTer?)
c.2267dup (p.Glu757GlyfsTer?)
c.2417dup (p.Glu807GlyfsTer?)
c.2390dup (p.Glu798GlyfsTer?)
 ClinVar
7g.150948882G>ACA458645127KCNH2n.3399C>T
c.2566C>T (p.Leu856=)
c.1546C>T (p.Leu516=)
c.2266C>T (p.Leu756=)
c.2416C>T (p.Leu806=)
c.2389C>T (p.Leu797=)
 ClinVar
7g.150948882G>CCA369854759KCNH2n.3399C>G
c.2566C>G (p.Leu856Val)
c.1546C>G (p.Leu516Val)
c.2266C>G (p.Leu756Val)
c.2416C>G (p.Leu806Val)
c.2389C>G (p.Leu797Val)
 ClinVar dbSNP
7g.150948882G=CA1752431861KCNH2n.3399C=
c.2566C= (p.Leu856=)
c.1546C= (p.Leu516=)
c.2266C= (p.Leu756=)
c.2416C= (p.Leu806=)
c.2389C= (p.Leu797=)
7g.150948882G>TCA369854761KCNH2n.3399C>A
c.2566C>A (p.Leu856Met)
c.1546C>A (p.Leu516Met)
c.2266C>A (p.Leu756Met)
c.2416C>A (p.Leu806Met)
c.2389C>A (p.Leu797Met)
7g.150948883G>ACA458645128KCNH2n.3398C>T
c.2565C>T (p.Ser855=)
c.1545C>T (p.Ser515=)
c.2265C>T (p.Ser755=)
c.2415C>T (p.Ser805=)
c.2388C>T (p.Ser796=)
7g.150948883G>CCA369854763KCNH2n.3398C>G
c.2565C>G (p.Ser855Arg)
c.1545C>G (p.Ser515Arg)
c.2265C>G (p.Ser755Arg)
c.2415C>G (p.Ser805Arg)
c.2388C>G (p.Ser796Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948883G=CA1752431866KCNH2n.3398C=
c.2565C= (p.Ser855=)
c.1545C= (p.Ser515=)
c.2265C= (p.Ser755=)
c.2415C= (p.Ser805=)
c.2388C= (p.Ser796=)
7g.150948883G>TCA369854764KCNH2n.3398C>A
c.2565C>A (p.Ser855Arg)
c.1545C>A (p.Ser515Arg)
c.2265C>A (p.Ser755Arg)
c.2415C>A (p.Ser805Arg)
c.2388C>A (p.Ser796Arg)
 gnomAD v4
7g.150948884C>ACA369854767KCNH2n.3397G>T
c.2564G>T (p.Ser855Ile)
c.1544G>T (p.Ser515Ile)
c.2264G>T (p.Ser755Ile)
c.2414G>T (p.Ser805Ile)
c.2387G>T (p.Ser796Ile)
7g.150948884C>GCA369854769KCNH2n.3397G>C
c.2564G>C (p.Ser855Thr)
c.1544G>C (p.Ser515Thr)
c.2264G>C (p.Ser755Thr)
c.2414G>C (p.Ser805Thr)
c.2387G>C (p.Ser796Thr)
7g.150948884C>TCA369854770KCNH2n.3397G>A
c.2564G>A (p.Ser855Asn)
c.1544G>A (p.Ser515Asn)
c.2264G>A (p.Ser755Asn)
c.2414G>A (p.Ser805Asn)
c.2387G>A (p.Ser796Asn)
 ClinVar dbSNP gnomAD v4
7g.150948885T>ACA369854771KCNH2n.3396A>T
c.2563A>T (p.Ser855Cys)
c.1543A>T (p.Ser515Cys)
c.2263A>T (p.Ser755Cys)
c.2413A>T (p.Ser805Cys)
c.2386A>T (p.Ser796Cys)
7g.150948885T>CCA369854773KCNH2n.3396A>G
c.2563A>G (p.Ser855Gly)
c.1543A>G (p.Ser515Gly)
c.2263A>G (p.Ser755Gly)
c.2413A>G (p.Ser805Gly)
c.2386A>G (p.Ser796Gly)
7g.150948885T>GCA369854775KCNH2n.3396A>C
c.2563A>C (p.Ser855Arg)
c.1543A>C (p.Ser515Arg)
c.2263A>C (p.Ser755Arg)
c.2413A>C (p.Ser805Arg)
c.2386A>C (p.Ser796Arg)
7g.150948886G>ACA169074743KCNH2n.3395C>T
c.2562C>T (p.Ser854=)
c.1542C>T (p.Ser514=)
c.2262C>T (p.Ser754=)
c.2412C>T (p.Ser804=)
c.2385C>T (p.Ser795=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948886G>CCA458645129KCNH2n.3395C>G
c.2562C>G (p.Ser854=)
c.1542C>G (p.Ser514=)
c.2262C>G (p.Ser754=)
c.2412C>G (p.Ser804=)
c.2385C>G (p.Ser795=)
7g.150948886G=CA1752431869KCNH2n.3395C=
c.2562C= (p.Ser854=)
c.1542C= (p.Ser514=)
c.2262C= (p.Ser754=)
c.2412C= (p.Ser804=)
c.2385C= (p.Ser795=)
7g.150948886G>TCA458645130KCNH2n.3395C>A
c.2562C>A (p.Ser854=)
c.1542C>A (p.Ser514=)
c.2262C>A (p.Ser754=)
c.2412C>A (p.Ser804=)
c.2385C>A (p.Ser795=)
7g.150948887G>ACA369854777KCNH2n.3394C>T
c.2561C>T (p.Ser854Phe)
c.1541C>T (p.Ser514Phe)
c.2261C>T (p.Ser754Phe)
c.2411C>T (p.Ser804Phe)
c.2384C>T (p.Ser795Phe)
7g.150948887G>CCA369854779KCNH2n.3394C>G
c.2561C>G (p.Ser854Cys)
c.1541C>G (p.Ser514Cys)
c.2261C>G (p.Ser754Cys)
c.2411C>G (p.Ser804Cys)
c.2384C>G (p.Ser795Cys)
7g.150948887G>TCA369854781KCNH2n.3394C>A
c.2561C>A (p.Ser854Tyr)
c.1541C>A (p.Ser514Tyr)
c.2261C>A (p.Ser754Tyr)
c.2411C>A (p.Ser804Tyr)
c.2384C>A (p.Ser795Tyr)
7g.150948888A>CCA369854787KCNH2n.3393T>G
c.2560T>G (p.Ser854Ala)
c.1540T>G (p.Ser514Ala)
c.2260T>G (p.Ser754Ala)
c.2410T>G (p.Ser804Ala)
c.2383T>G (p.Ser795Ala)
 gnomAD v4
7g.150948888A>GCA369854783KCNH2n.3393T>C
c.2560T>C (p.Ser854Pro)
c.1540T>C (p.Ser514Pro)
c.2260T>C (p.Ser754Pro)
c.2410T>C (p.Ser804Pro)
c.2383T>C (p.Ser795Pro)
7g.150948888A>TCA369854785KCNH2n.3393T>A
c.2560T>A (p.Ser854Thr)
c.1540T>A (p.Ser514Thr)
c.2260T>A (p.Ser754Thr)
c.2410T>A (p.Ser804Thr)
c.2383T>A (p.Ser795Thr)
7g.150948889C>ACA369854789KCNH2n.3392G>T
c.2559G>T (p.Trp853Cys)
c.1539G>T (p.Trp513Cys)
c.2259G>T (p.Trp753Cys)
c.2409G>T (p.Trp803Cys)
c.2382G>T (p.Trp794Cys)
7g.150948889C>GCA369854793KCNH2n.3392G>C
c.2559G>C (p.Trp853Cys)
c.1539G>C (p.Trp513Cys)
c.2259G>C (p.Trp753Cys)
c.2409G>C (p.Trp803Cys)
c.2382G>C (p.Trp794Cys)
7g.150948889C>TCA369854791KCNH2n.3392G>A
c.2559G>A (p.Trp853Ter)
c.1539G>A (p.Trp513Ter)
c.2259G>A (p.Trp753Ter)
c.2409G>A (p.Trp803Ter)
c.2382G>A (p.Trp794Ter)
 ClinVar dbSNP
7g.150948890delCA2695208824KCNH2n.3392del
c.2559del (p.Trp853CysfsTer15)
c.1539del (p.Trp513CysfsTer15)
c.2259del (p.Trp753CysfsTer15)
c.2409del (p.Trp803CysfsTer15)
c.2382del (p.Trp794CysfsTer15)
7g.150948890C>ACA369854795KCNH2n.3391G>T
c.2558G>T (p.Trp853Leu)
c.1538G>T (p.Trp513Leu)
c.2258G>T (p.Trp753Leu)
c.2408G>T (p.Trp803Leu)
c.2381G>T (p.Trp794Leu)
7g.150948890C>GCA369854798KCNH2n.3391G>C
c.2558G>C (p.Trp853Ser)
c.1538G>C (p.Trp513Ser)
c.2258G>C (p.Trp753Ser)
c.2408G>C (p.Trp803Ser)
c.2381G>C (p.Trp794Ser)
7g.150948890C>TCA369854796KCNH2n.3391G>A
c.2558G>A (p.Trp853Ter)
c.1538G>A (p.Trp513Ter)
c.2258G>A (p.Trp753Ter)
c.2408G>A (p.Trp803Ter)
c.2381G>A (p.Trp794Ter)
7g.150948891A>CCA369854800KCNH2n.3390T>G
c.2557T>G (p.Trp853Gly)
c.1537T>G (p.Trp513Gly)
c.2257T>G (p.Trp753Gly)
c.2407T>G (p.Trp803Gly)
c.2380T>G (p.Trp794Gly)
7g.150948891A>GCA369854802KCNH2n.3390T>C
c.2557T>C (p.Trp853Arg)
c.1537T>C (p.Trp513Arg)
c.2257T>C (p.Trp753Arg)
c.2407T>C (p.Trp803Arg)
c.2380T>C (p.Trp794Arg)
7g.150948891A>TCA369854803KCNH2n.3390T>A
c.2557T>A (p.Trp853Arg)
c.1537T>A (p.Trp513Arg)
c.2257T>A (p.Trp753Arg)
c.2407T>A (p.Trp803Arg)
c.2380T>A (p.Trp794Arg)
7g.150948892G>ACA458645131KCNH2n.3389C>T
c.2556C>T (p.Phe852=)
c.1536C>T (p.Phe512=)
c.2256C>T (p.Phe752=)
c.2406C>T (p.Phe802=)
c.2379C>T (p.Phe793=)
7g.150948892G>CCA369854805KCNH2n.3389C>G
c.2556C>G (p.Phe852Leu)
c.1536C>G (p.Phe512Leu)
c.2256C>G (p.Phe752Leu)
c.2406C>G (p.Phe802Leu)
c.2379C>G (p.Phe793Leu)
7g.150948892G>TCA369854807KCNH2n.3389C>A
c.2556C>A (p.Phe852Leu)
c.1536C>A (p.Phe512Leu)
c.2256C>A (p.Phe752Leu)
c.2406C>A (p.Phe802Leu)
c.2379C>A (p.Phe793Leu)
7g.150948893A>CCA369854808KCNH2n.3388T>G
c.2555T>G (p.Phe852Cys)
c.1535T>G (p.Phe512Cys)
c.2255T>G (p.Phe752Cys)
c.2405T>G (p.Phe802Cys)
c.2378T>G (p.Phe793Cys)
7g.150948893A>GCA369854810KCNH2n.3388T>C
c.2555T>C (p.Phe852Ser)
c.1535T>C (p.Phe512Ser)
c.2255T>C (p.Phe752Ser)
c.2405T>C (p.Phe802Ser)
c.2378T>C (p.Phe793Ser)
7g.150948893A>TCA369854812KCNH2n.3388T>A
c.2555T>A (p.Phe852Tyr)
c.1535T>A (p.Phe512Tyr)
c.2255T>A (p.Phe752Tyr)
c.2405T>A (p.Phe802Tyr)
c.2378T>A (p.Phe793Tyr)
7g.150948894delCA2499218794KCNH2n.3388del
c.2555del (p.Phe852SerfsTer16)
c.1535del (p.Phe512SerfsTer16)
c.2255del (p.Phe752SerfsTer16)
c.2405del (p.Phe802SerfsTer16)
c.2378del (p.Phe793SerfsTer16)
 ClinVar dbSNP
7g.150948894A>CCA369854814KCNH2n.3387T>G
c.2554T>G (p.Phe852Val)
c.1534T>G (p.Phe512Val)
c.2254T>G (p.Phe752Val)
c.2404T>G (p.Phe802Val)
c.2377T>G (p.Phe793Val)
7g.150948894A>GCA369854816KCNH2n.3387T>C
c.2554T>C (p.Phe852Leu)
c.1534T>C (p.Phe512Leu)
c.2254T>C (p.Phe752Leu)
c.2404T>C (p.Phe802Leu)
c.2377T>C (p.Phe793Leu)
7g.150948894A>TCA369854818KCNH2n.3387T>A
c.2554T>A (p.Phe852Ile)
c.1534T>A (p.Phe512Ile)
c.2254T>A (p.Phe752Ile)
c.2404T>A (p.Phe802Ile)
c.2377T>A (p.Phe793Ile)
7g.150948895G>ACA458645132KCNH2n.3386C>T
c.2553C>T (p.His851=)
c.1533C>T (p.His511=)
c.2253C>T (p.His751=)
c.2403C>T (p.His801=)
c.2376C>T (p.His792=)
 dbSNP gnomAD v2 gnomAD v4
7g.150948895G>CCA369854820KCNH2n.3386C>G
c.2553C>G (p.His851Gln)
c.1533C>G (p.His511Gln)
c.2253C>G (p.His751Gln)
c.2403C>G (p.His801Gln)
c.2376C>G (p.His792Gln)
7g.150948895G=CA1752431873KCNH2n.3386C=
c.2553C= (p.His851=)
c.1533C= (p.His511=)
c.2253C= (p.His751=)
c.2403C= (p.His801=)
c.2376C= (p.His792=)
7g.150948895G>TCA369854822KCNH2n.3386C>A
c.2553C>A (p.His851Gln)
c.1533C>A (p.His511Gln)
c.2253C>A (p.His751Gln)
c.2403C>A (p.His801Gln)
c.2376C>A (p.His792Gln)
7g.150948896T>ACA369854824KCNH2n.3385A>T
c.2552A>T (p.His851Leu)
c.1532A>T (p.His511Leu)
c.2252A>T (p.His751Leu)
c.2402A>T (p.His801Leu)
c.2375A>T (p.His792Leu)
7g.150948896T>CCA369854827KCNH2n.3385A>G
c.2552A>G (p.His851Arg)
c.1532A>G (p.His511Arg)
c.2252A>G (p.His751Arg)
c.2402A>G (p.His801Arg)
c.2375A>G (p.His792Arg)
7g.150948896T>GCA369854826KCNH2n.3385A>C
c.2552A>C (p.His851Pro)
c.1532A>C (p.His511Pro)
c.2252A>C (p.His751Pro)
c.2402A>C (p.His801Pro)
c.2375A>C (p.His792Pro)
7g.150948897G>ACA369854829KCNH2n.3384C>T
c.2551C>T (p.His851Tyr)
c.1531C>T (p.His511Tyr)
c.2251C>T (p.His751Tyr)
c.2401C>T (p.His801Tyr)
c.2374C>T (p.His792Tyr)
7g.150948897G>CCA369854830KCNH2n.3384C>G
c.2551C>G (p.His851Asp)
c.1531C>G (p.His511Asp)
c.2251C>G (p.His751Asp)
c.2401C>G (p.His801Asp)
c.2374C>G (p.His792Asp)
 COSMIC COSMIC
7g.150948897G>TCA369854832KCNH2n.3384C>A
c.2551C>A (p.His851Asn)
c.1531C>A (p.His511Asn)
c.2251C>A (p.His751Asn)
c.2401C>A (p.His801Asn)
c.2374C>A (p.His792Asn)
7g.150948898G>ACA458645133KCNH2n.3383C>T
c.2550C>T (p.Asp850=)
c.1530C>T (p.Asp510=)
c.2250C>T (p.Asp750=)
c.2400C>T (p.Asp800=)
c.2373C>T (p.Asp791=)
 ClinVar
7g.150948898G>CCA369854834KCNH2n.3383C>G
c.2550C>G (p.Asp850Glu)
c.1530C>G (p.Asp510Glu)
c.2250C>G (p.Asp750Glu)
c.2400C>G (p.Asp800Glu)
c.2373C>G (p.Asp791Glu)
7g.150948898G>TCA369854835KCNH2n.3383C>A
c.2550C>A (p.Asp850Glu)
c.1530C>A (p.Asp510Glu)
c.2250C>A (p.Asp750Glu)
c.2400C>A (p.Asp800Glu)
c.2373C>A (p.Asp791Glu)
7g.150948899T>ACA369854838KCNH2n.3382A>T
c.2549A>T (p.Asp850Val)
c.1529A>T (p.Asp510Val)
c.2249A>T (p.Asp750Val)
c.2399A>T (p.Asp800Val)
c.2372A>T (p.Asp791Val)
 dbSNP
7g.150948899T>CCA369854840KCNH2n.3382A>G
c.2549A>G (p.Asp850Gly)
c.1529A>G (p.Asp510Gly)
c.2249A>G (p.Asp750Gly)
c.2399A>G (p.Asp800Gly)
c.2372A>G (p.Asp791Gly)
7g.150948899T>GCA369854841KCNH2n.3382A>C
c.2549A>C (p.Asp850Ala)
c.1529A>C (p.Asp510Ala)
c.2249A>C (p.Asp750Ala)
c.2399A>C (p.Asp800Ala)
c.2372A>C (p.Asp791Ala)
7g.150948900C>ACA369854844KCNH2n.3381G>T
c.2548G>T (p.Asp850Tyr)
c.1528G>T (p.Asp510Tyr)
c.2248G>T (p.Asp750Tyr)
c.2398G>T (p.Asp800Tyr)
c.2371G>T (p.Asp791Tyr)
 ClinVar dbSNP gnomAD v4
7g.150948900C=CA1752431881KCNH2n.3381G=
c.2548G= (p.Asp850=)
c.1528G= (p.Asp510=)
c.2248G= (p.Asp750=)
c.2398G= (p.Asp800=)
c.2371G= (p.Asp791=)
7g.150948900C>GCA369854845KCNH2n.3381G>C
c.2548G>C (p.Asp850His)
c.1528G>C (p.Asp510His)
c.2248G>C (p.Asp750His)
c.2398G>C (p.Asp800His)
c.2371G>C (p.Asp791His)
 ClinVar
7g.150948900C>TCA169074750KCNH2n.3381G>A
c.2548G>A (p.Asp850Asn)
c.1528G>A (p.Asp510Asn)
c.2248G>A (p.Asp750Asn)
c.2398G>A (p.Asp800Asn)
c.2371G>A (p.Asp791Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948901G>ACA033018KCNH2n.3380C>T
c.2547C>T (p.Ser849=)
c.1527C>T (p.Ser509=)
c.2247C>T (p.Ser749=)
c.2397C>T (p.Ser799=)
c.2370C>T (p.Ser790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948901G>CCA458645135KCNH2n.3380C>G
c.2547C>G (p.Ser849=)
c.1527C>G (p.Ser509=)
c.2247C>G (p.Ser749=)
c.2397C>G (p.Ser799=)
c.2370C>G (p.Ser790=)
 ClinVar
7g.150948901G=CA1752431885KCNH2n.3380C=
c.2547C= (p.Ser849=)
c.1527C= (p.Ser509=)
c.2247C= (p.Ser749=)
c.2397C= (p.Ser799=)
c.2370C= (p.Ser790=)
7g.150948901G>TCA458645134KCNH2n.3380C>A
c.2547C>A (p.Ser849=)
c.1527C>A (p.Ser509=)
c.2247C>A (p.Ser749=)
c.2397C>A (p.Ser799=)
c.2370C>A (p.Ser790=)
7g.150948902G>ACA369854853KCNH2n.3379C>T
c.2546C>T (p.Ser849Phe)
c.1526C>T (p.Ser509Phe)
c.2246C>T (p.Ser749Phe)
c.2396C>T (p.Ser799Phe)
c.2369C>T (p.Ser790Phe)
 dbSNP
7g.150948902G>CCA369854849KCNH2n.3379C>G
c.2546C>G (p.Ser849Cys)
c.1526C>G (p.Ser509Cys)
c.2246C>G (p.Ser749Cys)
c.2396C>G (p.Ser799Cys)
c.2369C>G (p.Ser790Cys)
7g.150948902G=CA1752431889KCNH2n.3379C=
c.2546C= (p.Ser849=)
c.1526C= (p.Ser509=)
c.2246C= (p.Ser749=)
c.2396C= (p.Ser799=)
c.2369C= (p.Ser790=)
7g.150948902G>TCA369854851KCNH2n.3379C>A
c.2546C>A (p.Ser849Tyr)
c.1526C>A (p.Ser509Tyr)
c.2246C>A (p.Ser749Tyr)
c.2396C>A (p.Ser799Tyr)
c.2369C>A (p.Ser790Tyr)
7g.150948903A=CA1752431893KCNH2n.3378T=
c.2545T= (p.Ser849=)
c.1525T= (p.Ser509=)
c.2245T= (p.Ser749=)
c.2395T= (p.Ser799=)
c.2368T= (p.Ser790=)
7g.150948903A>CCA369854855KCNH2n.3378T>G
c.2545T>G (p.Ser849Ala)
c.1525T>G (p.Ser509Ala)
c.2245T>G (p.Ser749Ala)
c.2395T>G (p.Ser799Ala)
c.2368T>G (p.Ser790Ala)
7g.150948903A>GCA369854857KCNH2n.3378T>C
c.2545T>C (p.Ser849Pro)
c.1525T>C (p.Ser509Pro)
c.2245T>C (p.Ser749Pro)
c.2395T>C (p.Ser799Pro)
c.2368T>C (p.Ser790Pro)
7g.150948903A>TCA369854859KCNH2n.3378T>A
c.2545T>A (p.Ser849Thr)
c.1525T>A (p.Ser509Thr)
c.2245T>A (p.Ser749Thr)
c.2395T>A (p.Ser799Thr)
c.2368T>A (p.Ser790Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.150948904G>ACA458645136KCNH2n.3377C>T
c.2544C>T (p.Phe848=)
c.1524C>T (p.Phe508=)
c.2244C>T (p.Phe748=)
c.2394C>T (p.Phe798=)
c.2367C>T (p.Phe789=)
7g.150948904G>CCA369854861KCNH2n.3377C>G
c.2544C>G (p.Phe848Leu)
c.1524C>G (p.Phe508Leu)
c.2244C>G (p.Phe748Leu)
c.2394C>G (p.Phe798Leu)
c.2367C>G (p.Phe789Leu)
7g.150948904G>TCA369854863KCNH2n.3377C>A
c.2544C>A (p.Phe848Leu)
c.1524C>A (p.Phe508Leu)
c.2244C>A (p.Phe748Leu)
c.2394C>A (p.Phe798Leu)
c.2367C>A (p.Phe789Leu)
7g.150948905A>CCA369854865KCNH2n.3376T>G
c.2543T>G (p.Phe848Cys)
c.1523T>G (p.Phe508Cys)
c.2243T>G (p.Phe748Cys)
c.2393T>G (p.Phe798Cys)
c.2366T>G (p.Phe789Cys)
7g.150948905A>GCA369854867KCNH2n.3376T>C
c.2543T>C (p.Phe848Ser)
c.1523T>C (p.Phe508Ser)
c.2243T>C (p.Phe748Ser)
c.2393T>C (p.Phe798Ser)
c.2366T>C (p.Phe789Ser)
7g.150948905A>TCA369854869KCNH2n.3376T>A
c.2543T>A (p.Phe848Tyr)
c.1523T>A (p.Phe508Tyr)
c.2243T>A (p.Phe748Tyr)
c.2393T>A (p.Phe798Tyr)
c.2366T>A (p.Phe789Tyr)
7g.150948906A>CCA369854871KCNH2n.3375T>G
c.2542T>G (p.Phe848Val)
c.1522T>G (p.Phe508Val)
c.2242T>G (p.Phe748Val)
c.2392T>G (p.Phe798Val)
c.2365T>G (p.Phe789Val)
7g.150948906A>GCA369854873KCNH2n.3375T>C
c.2542T>C (p.Phe848Leu)
c.1522T>C (p.Phe508Leu)
c.2242T>C (p.Phe748Leu)
c.2392T>C (p.Phe798Leu)
c.2365T>C (p.Phe789Leu)
7g.150948906A>TCA369854875KCNH2n.3375T>A
c.2542T>A (p.Phe848Ile)
c.1522T>A (p.Phe508Ile)
c.2242T>A (p.Phe748Ile)
c.2392T>A (p.Phe798Ile)
c.2365T>A (p.Phe789Ile)
7g.150948907C>ACA169074754KCNH2n.3374G>T
c.2541G>T (p.Glu847Asp)
c.1521G>T (p.Glu507Asp)
c.2241G>T (p.Glu747Asp)
c.2391G>T (p.Glu797Asp)
c.2364G>T (p.Glu788Asp)
 ClinVar dbSNP gnomAD v4
7g.150948907C=CA1752431896KCNH2n.3374G=
c.2541G= (p.Glu847=)
c.1521G= (p.Glu507=)
c.2241G= (p.Glu747=)
c.2391G= (p.Glu797=)
c.2364G= (p.Glu788=)
7g.150948907C>GCA369854877KCNH2n.3374G>C
c.2541G>C (p.Glu847Asp)
c.1521G>C (p.Glu507Asp)
c.2241G>C (p.Glu747Asp)
c.2391G>C (p.Glu797Asp)
c.2364G>C (p.Glu788Asp)
7g.150948907C>TCA458645137KCNH2n.3374G>A
c.2541G>A (p.Glu847=)
c.1521G>A (p.Glu507=)
c.2241G>A (p.Glu747=)
c.2391G>A (p.Glu797=)
c.2364G>A (p.Glu788=)
 gnomAD v4
7g.150948907_150948914delCA2739278692KCNH2n.3367_3374del
c.2534_2541del (p.Tyr845PhefsTer?)
c.1514_1521del (p.Tyr505PhefsTer?)
c.2234_2241del (p.Tyr745PhefsTer?)
c.2384_2391del (p.Tyr795PhefsTer?)
c.2357_2364del (p.Tyr786PhefsTer?)
 ClinVar
7g.150948908T>ACA369854880KCNH2n.3373A>T
c.2540A>T (p.Glu847Val)
c.1520A>T (p.Glu507Val)
c.2240A>T (p.Glu747Val)
c.2390A>T (p.Glu797Val)
c.2363A>T (p.Glu788Val)
7g.150948908T>CCA369854882KCNH2n.3373A>G
c.2540A>G (p.Glu847Gly)
c.1520A>G (p.Glu507Gly)
c.2240A>G (p.Glu747Gly)
c.2390A>G (p.Glu797Gly)
c.2363A>G (p.Glu788Gly)
7g.150948908T>GCA369854884KCNH2n.3373A>C
c.2540A>C (p.Glu847Ala)
c.1520A>C (p.Glu507Ala)
c.2240A>C (p.Glu747Ala)
c.2390A>C (p.Glu797Ala)
c.2363A>C (p.Glu788Ala)
 gnomAD v4
7g.150948909C>ACA369854886KCNH2n.3372G>T
c.2539G>T (p.Glu847Ter)
c.1519G>T (p.Glu507Ter)
c.2239G>T (p.Glu747Ter)
c.2389G>T (p.Glu797Ter)
c.2362G>T (p.Glu788Ter)
7g.150948909C>GCA369854887KCNH2n.3372G>C
c.2539G>C (p.Glu847Gln)
c.1519G>C (p.Glu507Gln)
c.2239G>C (p.Glu747Gln)
c.2389G>C (p.Glu797Gln)
c.2362G>C (p.Glu788Gln)
 gnomAD v4
7g.150948909C>TCA369854889KCNH2n.3372G>A
c.2539G>A (p.Glu847Lys)
c.1519G>A (p.Glu507Lys)
c.2239G>A (p.Glu747Lys)
c.2389G>A (p.Glu797Lys)
c.2362G>A (p.Glu788Lys)
7g.150948910A=CA1752431897KCNH2n.3371T=
c.2538T= (p.Pro846=)
c.1518T= (p.Pro506=)
c.2238T= (p.Pro746=)
c.2388T= (p.Pro796=)
c.2361T= (p.Pro787=)
7g.150948910A>CCA458645138KCNH2n.3371T>G
c.2538T>G (p.Pro846=)
c.1518T>G (p.Pro506=)
c.2238T>G (p.Pro746=)
c.2388T>G (p.Pro796=)
c.2361T>G (p.Pro787=)
7g.150948910A>GCA033010KCNH2n.3371T>C
c.2538T>C (p.Pro846=)
c.1518T>C (p.Pro506=)
c.2238T>C (p.Pro746=)
c.2388T>C (p.Pro796=)
c.2361T>C (p.Pro787=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948910A>TCA458645139KCNH2n.3371T>A
c.2538T>A (p.Pro846=)
c.1518T>A (p.Pro506=)
c.2238T>A (p.Pro746=)
c.2388T>A (p.Pro796=)
c.2361T>A (p.Pro787=)
7g.150948911G>ACA16612301KCNH2n.3370C>T
c.2537C>T (p.Pro846Leu)
c.1517C>T (p.Pro506Leu)
c.2237C>T (p.Pro746Leu)
c.2387C>T (p.Pro796Leu)
c.2360C>T (p.Pro787Leu)
 ClinVar dbSNP
7g.150948911G>CCA369854893KCNH2n.3370C>G
c.2537C>G (p.Pro846Arg)
c.1517C>G (p.Pro506Arg)
c.2237C>G (p.Pro746Arg)
c.2387C>G (p.Pro796Arg)
c.2360C>G (p.Pro787Arg)
7g.150948911G=CA1752431898KCNH2n.3370C=
c.2537C= (p.Pro846=)
c.1517C= (p.Pro506=)
c.2237C= (p.Pro746=)
c.2387C= (p.Pro796=)
c.2360C= (p.Pro787=)
7g.150948911G>TCA369854895KCNH2n.3370C>A
c.2537C>A (p.Pro846His)
c.1517C>A (p.Pro506His)
c.2237C>A (p.Pro746His)
c.2387C>A (p.Pro796His)
c.2360C>A (p.Pro787His)
7g.150948912_150948913delCA2573141855KCNH2n.3369_3370del
c.2536_2537del (p.Pro846Ter)
c.1516_1517del (p.Pro506Ter)
c.2236_2237del (p.Pro746Ter)
c.2386_2387del (p.Pro796Ter)
c.2359_2360del (p.Pro787Ter)
 ClinVar dbSNP
7g.150948912G>ACA006916KCNH2n.3369C>T
c.2536C>T (p.Pro846Ser)
c.1516C>T (p.Pro506Ser)
c.2236C>T (p.Pro746Ser)
c.2386C>T (p.Pro796Ser)
c.2359C>T (p.Pro787Ser)
 ClinVar dbSNP
7g.150948912G>CCA006908KCNH2n.3369C>G
c.2536C>G (p.Pro846Ala)
c.1516C>G (p.Pro506Ala)
c.2236C>G (p.Pro746Ala)
c.2386C>G (p.Pro796Ala)
c.2359C>G (p.Pro787Ala)
 ClinVar dbSNP
7g.150948912G=CA1752431903KCNH2n.3369C=
c.2536C= (p.Pro846=)
c.1516C= (p.Pro506=)
c.2236C= (p.Pro746=)
c.2386C= (p.Pro796=)
c.2359C= (p.Pro787=)
7g.150948912G>TCA006897KCNH2n.3369C>A
c.2536C>A (p.Pro846Thr)
c.1516C>A (p.Pro506Thr)
c.2236C>A (p.Pro746Thr)
c.2386C>A (p.Pro796Thr)
c.2359C>A (p.Pro787Thr)
 ClinVar dbSNP
7g.150948913G>ACA169074755KCNH2n.3368C>T
c.2535C>T (p.Tyr845=)
c.1515C>T (p.Tyr505=)
c.2235C>T (p.Tyr745=)
c.2385C>T (p.Tyr795=)
c.2358C>T (p.Tyr786=)
 ClinVar dbSNP gnomAD v4
7g.150948913G>CCA369854902KCNH2n.3368C>G
c.2535C>G (p.Tyr845Ter)
c.1515C>G (p.Tyr505Ter)
c.2235C>G (p.Tyr745Ter)
c.2385C>G (p.Tyr795Ter)
c.2358C>G (p.Tyr786Ter)
7g.150948913G=CA1752431910KCNH2n.3368C=
c.2535C= (p.Tyr845=)
c.1515C= (p.Tyr505=)
c.2235C= (p.Tyr745=)
c.2385C= (p.Tyr795=)
c.2358C= (p.Tyr786=)
7g.150948913G>TCA369854901KCNH2n.3368C>A
c.2535C>A (p.Tyr845Ter)
c.1515C>A (p.Tyr505Ter)
c.2235C>A (p.Tyr745Ter)
c.2385C>A (p.Tyr795Ter)
c.2358C>A (p.Tyr786Ter)
7g.150948913_150948916delinsTTAACA2695208825KCNH2n.3365_3368delinsTTAA
c.2532_2535delinsTTAA (p.Met844IlefsTer2)
c.1512_1515delinsTTAA (p.Met504IlefsTer2)
c.2232_2235delinsTTAA (p.Met744IlefsTer2)
c.2382_2385delinsTTAA (p.Met794IlefsTer2)
c.2355_2358delinsTTAA (p.Met785IlefsTer2)
7g.150948914T>ACA369854905KCNH2n.3367A>T
c.2534A>T (p.Tyr845Phe)
c.1514A>T (p.Tyr505Phe)
c.2234A>T (p.Tyr745Phe)
c.2384A>T (p.Tyr795Phe)
c.2357A>T (p.Tyr786Phe)
7g.150948914T>CCA369854907KCNH2n.3367A>G
c.2534A>G (p.Tyr845Cys)
c.1514A>G (p.Tyr505Cys)
c.2234A>G (p.Tyr745Cys)
c.2384A>G (p.Tyr795Cys)
c.2357A>G (p.Tyr786Cys)
7g.150948914T>GCA369854908KCNH2n.3367A>C
c.2534A>C (p.Tyr845Ser)
c.1514A>C (p.Tyr505Ser)
c.2234A>C (p.Tyr745Ser)
c.2384A>C (p.Tyr795Ser)
c.2357A>C (p.Tyr786Ser)
7g.150948915A>CCA369854909KCNH2n.3366T>G
c.2533T>G (p.Tyr845Asp)
c.1513T>G (p.Tyr505Asp)
c.2233T>G (p.Tyr745Asp)
c.2383T>G (p.Tyr795Asp)
c.2356T>G (p.Tyr786Asp)
 gnomAD v4
7g.150948915A>GCA369854911KCNH2n.3366T>C
c.2533T>C (p.Tyr845His)
c.1513T>C (p.Tyr505His)
c.2233T>C (p.Tyr745His)
c.2383T>C (p.Tyr795His)
c.2356T>C (p.Tyr786His)
 ClinVar gnomAD v4
7g.150948915A>TCA369854913KCNH2n.3366T>A
c.2533T>A (p.Tyr845Asn)
c.1513T>A (p.Tyr505Asn)
c.2233T>A (p.Tyr745Asn)
c.2383T>A (p.Tyr795Asn)
c.2356T>A (p.Tyr786Asn)
 gnomAD v4
7g.150948916C>ACA369854915KCNH2n.3365G>T
c.2532G>T (p.Met844Ile)
c.1512G>T (p.Met504Ile)
c.2232G>T (p.Met744Ile)
c.2382G>T (p.Met794Ile)
c.2355G>T (p.Met785Ile)
7g.150948916C>GCA369854917KCNH2n.3365G>C
c.2532G>C (p.Met844Ile)
c.1512G>C (p.Met504Ile)
c.2232G>C (p.Met744Ile)
c.2382G>C (p.Met794Ile)
c.2355G>C (p.Met785Ile)
7g.150948916C>TCA369854919KCNH2n.3365G>A
c.2532G>A (p.Met844Ile)
c.1512G>A (p.Met504Ile)
c.2232G>A (p.Met744Ile)
c.2382G>A (p.Met794Ile)
c.2355G>A (p.Met785Ile)
7g.150948917A>CCA369854921KCNH2n.3364T>G
c.2531T>G (p.Met844Arg)
c.1511T>G (p.Met504Arg)
c.2231T>G (p.Met744Arg)
c.2381T>G (p.Met794Arg)
c.2354T>G (p.Met785Arg)
 ClinVar
7g.150948917A>GCA369854922KCNH2n.3364T>C
c.2531T>C (p.Met844Thr)
c.1511T>C (p.Met504Thr)
c.2231T>C (p.Met744Thr)
c.2381T>C (p.Met794Thr)
c.2354T>C (p.Met785Thr)
 ClinVar gnomAD v4
7g.150948917A>TCA369854924KCNH2n.3364T>A
c.2531T>A (p.Met844Lys)
c.1511T>A (p.Met504Lys)
c.2231T>A (p.Met744Lys)
c.2381T>A (p.Met794Lys)
c.2354T>A (p.Met785Lys)
7g.150948918T>ACA369854929KCNH2n.3363A>T
c.2530A>T (p.Met844Leu)
c.1510A>T (p.Met504Leu)
c.2230A>T (p.Met744Leu)
c.2380A>T (p.Met794Leu)
c.2353A>T (p.Met785Leu)
 gnomAD v4
7g.150948918T>CCA032997KCNH2n.3363A>G
c.2530A>G (p.Met844Val)
c.1510A>G (p.Met504Val)
c.2230A>G (p.Met744Val)
c.2380A>G (p.Met794Val)
c.2353A>G (p.Met785Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948918T>GCA369854926KCNH2n.3363A>C
c.2530A>C (p.Met844Leu)
c.1510A>C (p.Met504Leu)
c.2230A>C (p.Met744Leu)
c.2380A>C (p.Met794Leu)
c.2353A>C (p.Met785Leu)
7g.150948918T=CA1752431914KCNH2n.3363A=
c.2530A= (p.Met844=)
c.1510A= (p.Met504=)
c.2230A= (p.Met744=)
c.2380A= (p.Met794=)
c.2353A= (p.Met785=)
7g.150948919G>ACA458645140KCNH2n.3362C>T
c.2529C>T (p.Asp843=)
c.1509C>T (p.Asp503=)
c.2229C>T (p.Asp743=)
c.2379C>T (p.Asp793=)
c.2352C>T (p.Asp784=)
 gnomAD v4
7g.150948919G>CCA369854931KCNH2n.3362C>G
c.2529C>G (p.Asp843Glu)
c.1509C>G (p.Asp503Glu)
c.2229C>G (p.Asp743Glu)
c.2379C>G (p.Asp793Glu)
c.2352C>G (p.Asp784Glu)
7g.150948919G>TCA369854933KCNH2n.3362C>A
c.2529C>A (p.Asp843Glu)
c.1509C>A (p.Asp503Glu)
c.2229C>A (p.Asp743Glu)
c.2379C>A (p.Asp793Glu)
c.2352C>A (p.Asp784Glu)
7g.150948920T>ACA032957KCNH2n.3361A>T
c.2528A>T (p.Asp843Val)
c.1508A>T (p.Asp503Val)
c.2228A>T (p.Asp743Val)
c.2378A>T (p.Asp793Val)
c.2351A>T (p.Asp784Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948920T>CCA369854936KCNH2n.3361A>G
c.2528A>G (p.Asp843Gly)
c.1508A>G (p.Asp503Gly)
c.2228A>G (p.Asp743Gly)
c.2378A>G (p.Asp793Gly)
c.2351A>G (p.Asp784Gly)
 gnomAD v4
7g.150948920T>GCA369854938KCNH2n.3361A>C
c.2528A>C (p.Asp843Ala)
c.1508A>C (p.Asp503Ala)
c.2228A>C (p.Asp743Ala)
c.2378A>C (p.Asp793Ala)
c.2351A>C (p.Asp784Ala)
7g.150948920T=CA1752431918KCNH2n.3361A=
c.2528A= (p.Asp843=)
c.1508A= (p.Asp503=)
c.2228A= (p.Asp743=)
c.2378A= (p.Asp793=)
c.2351A= (p.Asp784=)
7g.150948921C>ACA369854940KCNH2n.3360G>T
c.2527G>T (p.Asp843Tyr)
c.1507G>T (p.Asp503Tyr)
c.2227G>T (p.Asp743Tyr)
c.2377G>T (p.Asp793Tyr)
c.2350G>T (p.Asp784Tyr)
7g.150948921C>GCA369854942KCNH2n.3360G>C
c.2527G>C (p.Asp843His)
c.1507G>C (p.Asp503His)
c.2227G>C (p.Asp743His)
c.2377G>C (p.Asp793His)
c.2350G>C (p.Asp784His)
7g.150948921C>TCA369854944KCNH2n.3360G>A
c.2527G>A (p.Asp843Asn)
c.1507G>A (p.Asp503Asn)
c.2227G>A (p.Asp743Asn)
c.2377G>A (p.Asp793Asn)
c.2350G>A (p.Asp784Asn)
7g.150948922C>ACA458645142KCNH2n.3359G>T
c.2526G>T (p.Leu842=)
c.1506G>T (p.Leu502=)
c.2226G>T (p.Leu742=)
c.2376G>T (p.Leu792=)
c.2349G>T (p.Leu783=)
7g.150948922C>GCA458645143KCNH2n.3359G>C
c.2526G>C (p.Leu842=)
c.1506G>C (p.Leu502=)
c.2226G>C (p.Leu742=)
c.2376G>C (p.Leu792=)
c.2349G>C (p.Leu783=)
7g.150948922C>TCA458645141KCNH2n.3359G>A
c.2526G>A (p.Leu842=)
c.1506G>A (p.Leu502=)
c.2226G>A (p.Leu742=)
c.2376G>A (p.Leu792=)
c.2349G>A (p.Leu783=)
7g.150948923A=CA1752431923KCNH2n.3358T=
c.2525T= (p.Leu842=)
c.1505T= (p.Leu502=)
c.2225T= (p.Leu742=)
c.2375T= (p.Leu792=)
c.2348T= (p.Leu783=)
7g.150948923A>CCA369854946KCNH2n.3358T>G
c.2525T>G (p.Leu842Arg)
c.1505T>G (p.Leu502Arg)
c.2225T>G (p.Leu742Arg)
c.2375T>G (p.Leu792Arg)
c.2348T>G (p.Leu783Arg)
7g.150948923A>GCA369854948KCNH2n.3358T>C
c.2525T>C (p.Leu842Pro)
c.1505T>C (p.Leu502Pro)
c.2225T>C (p.Leu742Pro)
c.2375T>C (p.Leu792Pro)
c.2348T>C (p.Leu783Pro)
 ClinVar dbSNP
7g.150948923A>TCA369854950KCNH2n.3358T>A
c.2525T>A (p.Leu842Gln)
c.1505T>A (p.Leu502Gln)
c.2225T>A (p.Leu742Gln)
c.2375T>A (p.Leu792Gln)
c.2348T>A (p.Leu783Gln)
7g.150948924G>ACA458645144KCNH2n.3357C>T
c.2524C>T (p.Leu842=)
c.1504C>T (p.Leu502=)
c.2224C>T (p.Leu742=)
c.2374C>T (p.Leu792=)
c.2347C>T (p.Leu783=)
 ClinVar
7g.150948924G>CCA369854952KCNH2n.3357C>G
c.2524C>G (p.Leu842Val)
c.1504C>G (p.Leu502Val)
c.2224C>G (p.Leu742Val)
c.2374C>G (p.Leu792Val)
c.2347C>G (p.Leu783Val)
 ClinVar dbSNP gnomAD v4
7g.150948924G>TCA369854953KCNH2n.3357C>A
c.2524C>A (p.Leu842Met)
c.1504C>A (p.Leu502Met)
c.2224C>A (p.Leu742Met)
c.2374C>A (p.Leu792Met)
c.2347C>A (p.Leu783Met)
7g.150948925C>ACA458645145KCNH2n.3356G>T
c.2523G>T (p.Val841=)
c.1503G>T (p.Val501=)
c.2223G>T (p.Val741=)
c.2373G>T (p.Val791=)
c.2346G>T (p.Val782=)
7g.150948925C>GCA458645146KCNH2n.3356G>C
c.2523G>C (p.Val841=)
c.1503G>C (p.Val501=)
c.2223G>C (p.Val741=)
c.2373G>C (p.Val791=)
c.2346G>C (p.Val782=)
 gnomAD v4
7g.150948925C>TCA458645147KCNH2n.3356G>A
c.2523G>A (p.Val841=)
c.1503G>A (p.Val501=)
c.2223G>A (p.Val741=)
c.2373G>A (p.Val791=)
c.2346G>A (p.Val782=)
7g.150948926A=CA1752431924KCNH2n.3355T=
c.2522T= (p.Val841=)
c.1502T= (p.Val501=)
c.2222T= (p.Val741=)
c.2372T= (p.Val791=)
c.2345T= (p.Val782=)
7g.150948926A>CCA369854956KCNH2n.3355T>G
c.2522T>G (p.Val841Gly)
c.1502T>G (p.Val501Gly)
c.2222T>G (p.Val741Gly)
c.2372T>G (p.Val791Gly)
c.2345T>G (p.Val782Gly)
 dbSNP
7g.150948926A>GCA369854958KCNH2n.3355T>C
c.2522T>C (p.Val841Ala)
c.1502T>C (p.Val501Ala)
c.2222T>C (p.Val741Ala)
c.2372T>C (p.Val791Ala)
c.2345T>C (p.Val782Ala)
7g.150948926A>TCA369854954KCNH2n.3355T>A
c.2522T>A (p.Val841Glu)
c.1502T>A (p.Val501Glu)
c.2222T>A (p.Val741Glu)
c.2372T>A (p.Val791Glu)
c.2345T>A (p.Val782Glu)
7g.150948927C>ACA369854960KCNH2n.3354G>T
c.2521G>T (p.Val841Leu)
c.1501G>T (p.Val501Leu)
c.2221G>T (p.Val741Leu)
c.2371G>T (p.Val791Leu)
c.2344G>T (p.Val782Leu)
 ClinVar
7g.150948927C>GCA369854962KCNH2n.3354G>C
c.2521G>C (p.Val841Leu)
c.1501G>C (p.Val501Leu)
c.2221G>C (p.Val741Leu)
c.2371G>C (p.Val791Leu)
c.2344G>C (p.Val782Leu)
7g.150948927C>TCA369854964KCNH2n.3354G>A
c.2521G>A (p.Val841Met)
c.1501G>A (p.Val501Met)
c.2221G>A (p.Val741Met)
c.2371G>A (p.Val791Met)
c.2344G>A (p.Val782Met)
7g.150948928C>ACA369854966KCNH2n.3353G>T
c.2520G>T (p.Glu840Asp)
c.1500G>T (p.Glu500Asp)
c.2220G>T (p.Glu740Asp)
c.2370G>T (p.Glu790Asp)
c.2343G>T (p.Glu781Asp)
7g.150948928C>GCA369854968KCNH2n.3353G>C
c.2520G>C (p.Glu840Asp)
c.1500G>C (p.Glu500Asp)
c.2220G>C (p.Glu740Asp)
c.2370G>C (p.Glu790Asp)
c.2343G>C (p.Glu781Asp)
7g.150948928C>TCA458645148KCNH2n.3353G>A
c.2520G>A (p.Glu840=)
c.1500G>A (p.Glu500=)
c.2220G>A (p.Glu740=)
c.2370G>A (p.Glu790=)
c.2343G>A (p.Glu781=)

Number of alleles fetched