Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947163_150948277delCA1139660328KCNH2n.3525+167_3986-109del
c.2692+167_3153-109del
c.1672+167_2133-109del
c.2392+167_2853-109del
c.2542+167_3003-109del
c.2515+167_2976-109del
ClinVar
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.150947711G>ACA007528KCNH2n.3693C>T
c.2860C>T (p.Arg954Cys)
c.1840C>T (p.Arg614Cys)
c.2560C>T (p.Arg854Cys)
c.2693-20C>T (n.2693-20C>T)
c.2710C>T (p.Arg904Cys)
c.2683C>T (p.Arg895Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947711G>CCA369853249KCNH2n.3693C>G
c.2860C>G (p.Arg954Gly)
c.1840C>G (p.Arg614Gly)
c.2560C>G (p.Arg854Gly)
c.2693-20C>G (n.2693-20C>G)
c.2710C>G (p.Arg904Gly)
c.2683C>G (p.Arg895Gly)
7g.150947711G=CA1752430092KCNH2n.3693C=
c.2860C= (p.Arg954=)
c.1840C= (p.Arg614=)
c.2560C= (p.Arg854=)
c.2693-20C= (n.2693-20C=)
c.2710C= (p.Arg904=)
c.2683C= (p.Arg895=)
7g.150947711G>TCA369853250KCNH2n.3693C>A
c.2860C>A (p.Arg954Ser)
c.1840C>A (p.Arg614Ser)
c.2560C>A (p.Arg854Ser)
c.2693-20C>A (n.2693-20C>A)
c.2710C>A (p.Arg904Ser)
c.2683C>A (p.Arg895Ser)
7g.150947712G>ACA458870984KCNH2n.3692C>T
c.2859C>T (p.Leu953=)
c.1839C>T (p.Leu613=)
c.2559C>T (p.Leu853=)
c.2693-21C>T (n.2693-21C>T)
c.2709C>T (p.Leu903=)
c.2682C>T (p.Leu894=)
7g.150947712G>CCA458870985KCNH2n.3692C>G
c.2859C>G (p.Leu953=)
c.1839C>G (p.Leu613=)
c.2559C>G (p.Leu853=)
c.2693-21C>G (n.2693-21C>G)
c.2709C>G (p.Leu903=)
c.2682C>G (p.Leu894=)
7g.150947712G>TCA458870986KCNH2n.3692C>A
c.2859C>A (p.Leu953=)
c.1839C>A (p.Leu613=)
c.2559C>A (p.Leu853=)
c.2693-21C>A (n.2693-21C>A)
c.2709C>A (p.Leu903=)
c.2682C>A (p.Leu894=)
gnomAD v4
7g.150947713_150947714delCA2685602125KCNH2n.3691_3692del
c.2858_2859del (p.Leu953ProfsTer?)
c.1838_1839del (p.Leu613ProfsTer?)
c.2558_2559del (p.Leu853ProfsTer?)
c.2693-22_2693-21del (n.2693-22_2693-21del)
c.2708_2709del (p.Leu903ProfsTer?)
c.2681_2682del (p.Leu894ProfsTer?)
gnomAD v4
7g.150947713A>CCA369853251KCNH2n.3691T>G
c.2858T>G (p.Leu953Arg)
c.1838T>G (p.Leu613Arg)
c.2558T>G (p.Leu853Arg)
c.2693-22T>G (n.2693-22T>G)
c.2708T>G (p.Leu903Arg)
c.2681T>G (p.Leu894Arg)
7g.150947713A>GCA369853252KCNH2n.3691T>C
c.2858T>C (p.Leu953Pro)
c.1838T>C (p.Leu613Pro)
c.2558T>C (p.Leu853Pro)
c.2693-22T>C (n.2693-22T>C)
c.2708T>C (p.Leu903Pro)
c.2681T>C (p.Leu894Pro)
7g.150947713A>TCA369853253KCNH2n.3691T>A
c.2858T>A (p.Leu953His)
c.1838T>A (p.Leu613His)
c.2558T>A (p.Leu853His)
c.2693-22T>A (n.2693-22T>A)
c.2708T>A (p.Leu903His)
c.2681T>A (p.Leu894His)
gnomAD v4
7g.150947713_150947714delinsAGCA1752430097KCNH2n.3690_3691delinsCT
c.2857_2858delinsCT (p.Leu953=)
c.1837_1838delinsCT (p.Leu613=)
c.2557_2558delinsCT (p.Leu853=)
c.2693-23_2693-22delinsCT (n.2693-23_2693-22delinsCT)
c.2707_2708delinsCT (p.Leu903=)
c.2680_2681delinsCT (p.Leu894=)
7g.150947714G>ACA369853254KCNH2n.3690C>T
c.2857C>T (p.Leu953Phe)
c.1837C>T (p.Leu613Phe)
c.2557C>T (p.Leu853Phe)
c.2693-23C>T (n.2693-23C>T)
c.2707C>T (p.Leu903Phe)
c.2680C>T (p.Leu894Phe)
ClinVar dbSNP
7g.150947714G>CCA369853255KCNH2n.3690C>G
c.2857C>G (p.Leu953Val)
c.1837C>G (p.Leu613Val)
c.2557C>G (p.Leu853Val)
c.2693-23C>G (n.2693-23C>G)
c.2707C>G (p.Leu903Val)
c.2680C>G (p.Leu894Val)
7g.150947714G=CA1752430099KCNH2n.3690C=
c.2857C= (p.Leu953=)
c.1837C= (p.Leu613=)
c.2557C= (p.Leu853=)
c.2693-23C= (n.2693-23C=)
c.2707C= (p.Leu903=)
c.2680C= (p.Leu894=)
7g.150947714G>TCA369853256KCNH2n.3690C>A
c.2857C>A (p.Leu953Ile)
c.1837C>A (p.Leu613Ile)
c.2557C>A (p.Leu853Ile)
c.2693-23C>A (n.2693-23C>A)
c.2707C>A (p.Leu903Ile)
c.2680C>A (p.Leu894Ile)
gnomAD v4
7g.150947718dupCA2580077743KCNH2n.3690dup
c.2857dup (p.Leu953ProfsTer?)
c.1837dup (p.Leu613ProfsTer?)
c.2557dup (p.Leu853ProfsTer?)
c.2693-23dup (n.2693-23dup)
c.2707dup (p.Leu903ProfsTer?)
c.2680dup (p.Leu894ProfsTer?)
ClinVar
7g.150947718delCA007519KCNH2n.3690del
c.2857del (p.Leu953SerfsTer21)
c.1837del (p.Leu613SerfsTer21)
c.2557del (p.Leu853SerfsTer21)
c.2693-23del (n.2693-23del)
c.2707del (p.Leu903SerfsTer21)
c.2680del (p.Leu894SerfsTer21)
ClinVar dbSNP
7g.150947715G>ACA458870988KCNH2n.3689C>T
c.2856C>T (p.Pro952=)
c.1836C>T (p.Pro612=)
c.2556C>T (p.Pro852=)
c.2693-24C>T (n.2693-24C>T)
c.2706C>T (p.Pro902=)
c.2679C>T (p.Pro893=)
7g.150947715G>CCA458870989KCNH2n.3689C>G
c.2856C>G (p.Pro952=)
c.1836C>G (p.Pro612=)
c.2556C>G (p.Pro852=)
c.2693-24C>G (n.2693-24C>G)
c.2706C>G (p.Pro902=)
c.2679C>G (p.Pro893=)
7g.150947715G>TCA458870990KCNH2n.3689C>A
c.2856C>A (p.Pro952=)
c.1836C>A (p.Pro612=)
c.2556C>A (p.Pro852=)
c.2693-24C>A (n.2693-24C>A)
c.2706C>A (p.Pro902=)
c.2679C>A (p.Pro893=)
gnomAD v4
7g.150947716G>ACA369853258KCNH2n.3688C>T
c.2855C>T (p.Pro952Leu)
c.1835C>T (p.Pro612Leu)
c.2555C>T (p.Pro852Leu)
c.2693-25C>T (n.2693-25C>T)
c.2705C>T (p.Pro902Leu)
c.2678C>T (p.Pro893Leu)
ClinVar dbSNP
7g.150947716G>CCA035089KCNH2n.3688C>G
c.2855C>G (p.Pro952Arg)
c.1835C>G (p.Pro612Arg)
c.2555C>G (p.Pro852Arg)
c.2693-25C>G (n.2693-25C>G)
c.2705C>G (p.Pro902Arg)
c.2678C>G (p.Pro893Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947716G=CA1752430106KCNH2n.3688C=
c.2855C= (p.Pro952=)
c.1835C= (p.Pro612=)
c.2555C= (p.Pro852=)
c.2693-25C= (n.2693-25C=)
c.2705C= (p.Pro902=)
c.2678C= (p.Pro893=)
7g.150947716G>TCA369853257KCNH2n.3688C>A
c.2855C>A (p.Pro952His)
c.1835C>A (p.Pro612His)
c.2555C>A (p.Pro852His)
c.2693-25C>A (n.2693-25C>A)
c.2705C>A (p.Pro902His)
c.2678C>A (p.Pro893His)
gnomAD v4
7g.150947717G>ACA035078KCNH2n.3687C>T
c.2854C>T (p.Pro952Ser)
c.1834C>T (p.Pro612Ser)
c.2554C>T (p.Pro852Ser)
c.2693-26C>T (n.2693-26C>T)
c.2704C>T (p.Pro902Ser)
c.2677C>T (p.Pro893Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947717G>CCA369853259KCNH2n.3687C>G
c.2854C>G (p.Pro952Ala)
c.1834C>G (p.Pro612Ala)
c.2554C>G (p.Pro852Ala)
c.2693-26C>G (n.2693-26C>G)
c.2704C>G (p.Pro902Ala)
c.2677C>G (p.Pro893Ala)
7g.150947717G=CA1752430110KCNH2n.3687C=
c.2854C= (p.Pro952=)
c.1834C= (p.Pro612=)
c.2554C= (p.Pro852=)
c.2693-26C= (n.2693-26C=)
c.2704C= (p.Pro902=)
c.2677C= (p.Pro893=)
7g.150947717G>TCA369853260KCNH2n.3687C>A
c.2854C>A (p.Pro952Thr)
c.1834C>A (p.Pro612Thr)
c.2554C>A (p.Pro852Thr)
c.2693-26C>A (n.2693-26C>A)
c.2704C>A (p.Pro902Thr)
c.2677C>A (p.Pro893Thr)
dbSNP gnomAD v2 gnomAD v4
7g.150947718G>ACA458870999KCNH2n.3686C>T
c.2853C>T (p.Ser951=)
c.1833C>T (p.Ser611=)
c.2553C>T (p.Ser851=)
c.2693-27C>T (n.2693-27C>T)
c.2703C>T (p.Ser901=)
c.2676C>T (p.Ser892=)
dbSNP gnomAD v2 gnomAD v4
7g.150947718G>CCA369853261KCNH2n.3686C>G
c.2853C>G (p.Ser951Arg)
c.1833C>G (p.Ser611Arg)
c.2553C>G (p.Ser851Arg)
c.2693-27C>G (n.2693-27C>G)
c.2703C>G (p.Ser901Arg)
c.2676C>G (p.Ser892Arg)
7g.150947718G=CA1752430113KCNH2n.3686C=
c.2853C= (p.Ser951=)
c.1833C= (p.Ser611=)
c.2553C= (p.Ser851=)
c.2693-27C= (n.2693-27C=)
c.2703C= (p.Ser901=)
c.2676C= (p.Ser892=)
7g.150947718G>TCA369853262KCNH2n.3686C>A
c.2853C>A (p.Ser951Arg)
c.1833C>A (p.Ser611Arg)
c.2553C>A (p.Ser851Arg)
c.2693-27C>A (n.2693-27C>A)
c.2703C>A (p.Ser901Arg)
c.2676C>A (p.Ser892Arg)
ClinVar dbSNP gnomAD v4
7g.150947719C>ACA369853265KCNH2n.3685G>T
c.2852G>T (p.Ser951Ile)
c.1832G>T (p.Ser611Ile)
c.2552G>T (p.Ser851Ile)
c.2693-28G>T (n.2693-28G>T)
c.2702G>T (p.Ser901Ile)
c.2675G>T (p.Ser892Ile)
7g.150947719C>GCA369853264KCNH2n.3685G>C
c.2852G>C (p.Ser951Thr)
c.1832G>C (p.Ser611Thr)
c.2552G>C (p.Ser851Thr)
c.2693-28G>C (n.2693-28G>C)
c.2702G>C (p.Ser901Thr)
c.2675G>C (p.Ser892Thr)
gnomAD v4
7g.150947719C>TCA369853263KCNH2n.3685G>A
c.2852G>A (p.Ser951Asn)
c.1832G>A (p.Ser611Asn)
c.2552G>A (p.Ser851Asn)
c.2693-28G>A (n.2693-28G>A)
c.2702G>A (p.Ser901Asn)
c.2675G>A (p.Ser892Asn)
gnomAD v4
7g.150947723_150947735delCA2580077744KCNH2n.3673_3685del
c.2840_2852del (p.Gly947AlafsTer23)
c.1820_1832del (p.Gly607AlafsTer23)
c.2540_2552del (p.Gly847AlafsTer23)
c.2693-40_2693-28del (n.2693-40_2693-28del)
c.2690_2702del (p.Gly897AlafsTer23)
c.2663_2675del (p.Gly888AlafsTer23)
ClinVar
7g.150947720T>ACA369853266KCNH2n.3684A>T
c.2851A>T (p.Ser951Cys)
c.1831A>T (p.Ser611Cys)
c.2551A>T (p.Ser851Cys)
c.2693-29A>T (n.2693-29A>T)
c.2701A>T (p.Ser901Cys)
c.2674A>T (p.Ser892Cys)
7g.150947720T>CCA369853267KCNH2n.3684A>G
c.2851A>G (p.Ser951Gly)
c.1831A>G (p.Ser611Gly)
c.2551A>G (p.Ser851Gly)
c.2693-29A>G (n.2693-29A>G)
c.2701A>G (p.Ser901Gly)
c.2674A>G (p.Ser892Gly)
gnomAD v4
7g.150947720T>GCA369853268KCNH2n.3684A>C
c.2851A>C (p.Ser951Arg)
c.1831A>C (p.Ser611Arg)
c.2551A>C (p.Ser851Arg)
c.2693-29A>C (n.2693-29A>C)
c.2701A>C (p.Ser901Arg)
c.2674A>C (p.Ser892Arg)
7g.150947721G>ACA458871010KCNH2n.3683C>T
c.2850C>T (p.Ser950=)
c.1830C>T (p.Ser610=)
c.2550C>T (p.Ser850=)
c.2693-30C>T (n.2693-30C>T)
c.2700C>T (p.Ser900=)
c.2673C>T (p.Ser891=)
ClinVar dbSNP gnomAD v4
7g.150947721G>CCA458871009KCNH2n.3683C>G
c.2850C>G (p.Ser950=)
c.1830C>G (p.Ser610=)
c.2550C>G (p.Ser850=)
c.2693-30C>G (n.2693-30C>G)
c.2700C>G (p.Ser900=)
c.2673C>G (p.Ser891=)
7g.150947721G>TCA458871007KCNH2n.3683C>A
c.2850C>A (p.Ser950=)
c.1830C>A (p.Ser610=)
c.2550C>A (p.Ser850=)
c.2693-30C>A (n.2693-30C>A)
c.2700C>A (p.Ser900=)
c.2673C>A (p.Ser891=)
7g.150947722G>ACA369853269KCNH2n.3682C>T
c.2849C>T (p.Ser950Phe)
c.1829C>T (p.Ser610Phe)
c.2549C>T (p.Ser850Phe)
c.2693-31C>T (n.2693-31C>T)
c.2699C>T (p.Ser900Phe)
c.2672C>T (p.Ser891Phe)
7g.150947722G>CCA369853270KCNH2n.3682C>G
c.2849C>G (p.Ser950Cys)
c.1829C>G (p.Ser610Cys)
c.2549C>G (p.Ser850Cys)
c.2693-31C>G (n.2693-31C>G)
c.2699C>G (p.Ser900Cys)
c.2672C>G (p.Ser891Cys)
7g.150947722G>TCA369853271KCNH2n.3682C>A
c.2849C>A (p.Ser950Tyr)
c.1829C>A (p.Ser610Tyr)
c.2549C>A (p.Ser850Tyr)
c.2693-31C>A (n.2693-31C>A)
c.2699C>A (p.Ser900Tyr)
c.2672C>A (p.Ser891Tyr)
7g.150947723A>CCA369853272KCNH2n.3681T>G
c.2848T>G (p.Ser950Ala)
c.1828T>G (p.Ser610Ala)
c.2548T>G (p.Ser850Ala)
c.2693-32T>G (n.2693-32T>G)
c.2698T>G (p.Ser900Ala)
c.2671T>G (p.Ser891Ala)
7g.150947723A>GCA369853274KCNH2n.3681T>C
c.2848T>C (p.Ser950Pro)
c.1828T>C (p.Ser610Pro)
c.2548T>C (p.Ser850Pro)
c.2693-32T>C (n.2693-32T>C)
c.2698T>C (p.Ser900Pro)
c.2671T>C (p.Ser891Pro)
gnomAD v4

Number of alleles fetched