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.150947391_150947665dupCA645372846KCNH2n.3740_3923dup
c.2907_3090dup
c.1887_2070dup
c.2607_2790dup
c.2757_2940dup
c.2730_2913dup
ClinVar
7g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCA916080377KCNH2n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
7g.150947592_150947617dupCA2685602113KCNH2n.3787_3798+14dup
c.2954_2965+14dup
c.1934_1945+14dup
c.2654_2665+14dup
c.*34_*45+14dup
c.2804_2815+14dup
c.2777_2788+14dup
gnomAD v4
7g.150947610_150947611delinsCACA1752429707KCNH2n.3793_3794delinsTG
c.2960_2961delinsTG (p.Leu987=)
c.1940_1941delinsTG (p.Leu647=)
c.2660_2661delinsTG (p.Leu887=)
c.*40_*41delinsTG (n.*40_*41delinsTG)
c.2810_2811delinsTG (p.Leu937=)
c.2783_2784delinsTG (p.Leu928=)
7g.150947610_150947612delinsCAGCA1752429713KCNH2n.3792_3794delinsCTG
c.2959_2961delinsCTG (p.Leu987=)
c.1939_1941delinsCTG (p.Leu647=)
c.2659_2661delinsCTG (p.Leu887=)
c.*39_*41delinsCTG (n.*39_*41delinsCTG)
c.2809_2811delinsCTG (p.Leu937=)
c.2782_2784delinsCTG (p.Leu928=)
7g.150947611delCA1139660334KCNH2n.3793del
c.2960del (p.Leu987ArgfsTer?)
c.1940del (p.Leu647ArgfsTer?)
c.2660del (p.Leu887ArgfsTer?)
c.*40del (n.*40del)
c.2810del (p.Leu937ArgfsTer?)
c.2783del (p.Leu928ArgfsTer?)
ClinVar dbSNP
7g.150947611A=CA1752429723KCNH2n.3793T=
c.2960T= (p.Leu987=)
c.1940T= (p.Leu647=)
c.2660T= (p.Leu887=)
c.*40T= (n.*40T=)
c.2810T= (p.Leu937=)
c.2783T= (p.Leu928=)
7g.150947611A>CCA369853043KCNH2n.3793T>G
c.2960T>G (p.Leu987Arg)
c.1940T>G (p.Leu647Arg)
c.2660T>G (p.Leu887Arg)
c.*40T>G (n.*40T>G)
c.2810T>G (p.Leu937Arg)
c.2783T>G (p.Leu928Arg)
7g.150947611A>GCA369853044KCNH2n.3793T>C
c.2960T>C (p.Leu987Pro)
c.1940T>C (p.Leu647Pro)
c.2660T>C (p.Leu887Pro)
c.*40T>C (n.*40T>C)
c.2810T>C (p.Leu937Pro)
c.2783T>C (p.Leu928Pro)
dbSNP gnomAD v2 gnomAD v4
7g.150947611A>TCA369853045KCNH2n.3793T>A
c.2960T>A (p.Leu987Gln)
c.1940T>A (p.Leu647Gln)
c.2660T>A (p.Leu887Gln)
c.*40T>A (n.*40T>A)
c.2810T>A (p.Leu937Gln)
c.2783T>A (p.Leu928Gln)
gnomAD v4
7g.150947611_150947612delCA007697KCNH2n.3792_3793del
c.2959_2960del (p.Leu987ValfsTer?)
c.1939_1940del (p.Leu647ValfsTer?)
c.2659_2660del (p.Leu887ValfsTer?)
c.*39_*40del (n.*39_*40del)
c.2809_2810del (p.Leu937ValfsTer?)
c.2782_2783del (p.Leu928ValfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947611_150947615dupCA2695208800KCNH2n.3789_3793dup
c.2956_2960dup (p.Ser988ProfsTer?)
c.1936_1940dup (p.Ser648ProfsTer?)
c.2656_2660dup (p.Ser888ProfsTer?)
c.*36_*40dup (n.*36_*40dup)
c.2806_2810dup (p.Ser938ProfsTer?)
c.2779_2783dup (p.Ser929ProfsTer?)
7g.150947612G>ACA458870770KCNH2n.3792C>T
c.2959C>T (p.Leu987=)
c.1939C>T (p.Leu647=)
c.2659C>T (p.Leu887=)
c.*39C>T (n.*39C>T)
c.2809C>T (p.Leu937=)
c.2782C>T (p.Leu928=)
ClinVar dbSNP gnomAD v4
7g.150947612G>CCA369853046KCNH2n.3792C>G
c.2959C>G (p.Leu987Val)
c.1939C>G (p.Leu647Val)
c.2659C>G (p.Leu887Val)
c.*39C>G (n.*39C>G)
c.2809C>G (p.Leu937Val)
c.2782C>G (p.Leu928Val)
7g.150947612G=CA1752429732KCNH2n.3792C=
c.2959C= (p.Leu987=)
c.1939C= (p.Leu647=)
c.2659C= (p.Leu887=)
c.*39C= (n.*39C=)
c.2809C= (p.Leu937=)
c.2782C= (p.Leu928=)
7g.150947612G>TCA369853047KCNH2n.3792C>A
c.2959C>A (p.Leu987Met)
c.1939C>A (p.Leu647Met)
c.2659C>A (p.Leu887Met)
c.*39C>A (n.*39C>A)
c.2809C>A (p.Leu937Met)
c.2782C>A (p.Leu928Met)
7g.150947616dupCA2499218787KCNH2n.3792dup
c.2959dup (p.Leu987ProfsTer?)
c.1939dup (p.Leu647ProfsTer?)
c.2659dup (p.Leu887ProfsTer?)
c.*39dup (n.*39dup)
c.2809dup (p.Leu937ProfsTer?)
c.2782dup (p.Leu928ProfsTer?)
ClinVar dbSNP
7g.150947616delCA658761315KCNH2n.3792del
c.2959del (p.Leu987CysfsTer?)
c.1939del (p.Leu647CysfsTer?)
c.2659del (p.Leu887CysfsTer?)
c.*39del (n.*39del)
c.2809del (p.Leu937CysfsTer?)
c.2782del (p.Leu928CysfsTer?)
7g.150947613G>ACA458870771KCNH2n.3791C>T
c.2958C>T (p.Pro986=)
c.1938C>T (p.Pro646=)
c.2658C>T (p.Pro886=)
c.*38C>T (n.*38C>T)
c.2808C>T (p.Pro936=)
c.2781C>T (p.Pro927=)
ClinVar dbSNP gnomAD v4
7g.150947613G>CCA458870772KCNH2n.3791C>G
c.2958C>G (p.Pro986=)
c.1938C>G (p.Pro646=)
c.2658C>G (p.Pro886=)
c.*38C>G (n.*38C>G)
c.2808C>G (p.Pro936=)
c.2781C>G (p.Pro927=)
7g.150947613G>TCA458870773KCNH2n.3791C>A
c.2958C>A (p.Pro986=)
c.1938C>A (p.Pro646=)
c.2658C>A (p.Pro886=)
c.*38C>A (n.*38C>A)
c.2808C>A (p.Pro936=)
c.2781C>A (p.Pro927=)
7g.150947614G>ACA369853048KCNH2n.3790C>T
c.2957C>T (p.Pro986Leu)
c.1937C>T (p.Pro646Leu)
c.2657C>T (p.Pro886Leu)
c.*37C>T (n.*37C>T)
c.2807C>T (p.Pro936Leu)
c.2780C>T (p.Pro927Leu)
dbSNP gnomAD v2 gnomAD v4
7g.150947614G>CCA369853049KCNH2n.3790C>G
c.2957C>G (p.Pro986Arg)
c.1937C>G (p.Pro646Arg)
c.2657C>G (p.Pro886Arg)
c.*37C>G (n.*37C>G)
c.2807C>G (p.Pro936Arg)
c.2780C>G (p.Pro927Arg)
7g.150947614G=CA1752429738KCNH2n.3790C=
c.2957C= (p.Pro986=)
c.1937C= (p.Pro646=)
c.2657C= (p.Pro886=)
c.*37C= (n.*37C=)
c.2807C= (p.Pro936=)
c.2780C= (p.Pro927=)
7g.150947614G>TCA369853050KCNH2n.3790C>A
c.2957C>A (p.Pro986His)
c.1937C>A (p.Pro646His)
c.2657C>A (p.Pro886His)
c.*37C>A (n.*37C>A)
c.2807C>A (p.Pro936His)
c.2780C>A (p.Pro927His)
gnomAD v4
7g.150947615G>ACA369853051KCNH2n.3789C>T
c.2956C>T (p.Pro986Ser)
c.1936C>T (p.Pro646Ser)
c.2656C>T (p.Pro886Ser)
c.*36C>T (n.*36C>T)
c.2806C>T (p.Pro936Ser)
c.2779C>T (p.Pro927Ser)
dbSNP gnomAD v4
7g.150947615G>CCA369853052KCNH2n.3789C>G
c.2956C>G (p.Pro986Ala)
c.1936C>G (p.Pro646Ala)
c.2656C>G (p.Pro886Ala)
c.*36C>G (n.*36C>G)
c.2806C>G (p.Pro936Ala)
c.2779C>G (p.Pro927Ala)
7g.150947615G=CA1752429743KCNH2n.3789C=
c.2956C= (p.Pro986=)
c.1936C= (p.Pro646=)
c.2656C= (p.Pro886=)
c.*36C= (n.*36C=)
c.2806C= (p.Pro936=)
c.2779C= (p.Pro927=)
7g.150947615G>TCA369853053KCNH2n.3789C>A
c.2956C>A (p.Pro986Thr)
c.1936C>A (p.Pro646Thr)
c.2656C>A (p.Pro886Thr)
c.*36C>A (n.*36C>A)
c.2806C>A (p.Pro936Thr)
c.2779C>A (p.Pro927Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947616G>ACA458870776KCNH2n.3788C>T
c.2955C>T (p.Asn985=)
c.1935C>T (p.Asn645=)
c.2655C>T (p.Asn885=)
c.*35C>T (n.*35C>T)
c.2805C>T (p.Asn935=)
c.2778C>T (p.Asn926=)
ClinVar dbSNP gnomAD v4
7g.150947616G>CCA369853055KCNH2n.3788C>G
c.2955C>G (p.Asn985Lys)
c.1935C>G (p.Asn645Lys)
c.2655C>G (p.Asn885Lys)
c.*35C>G (n.*35C>G)
c.2805C>G (p.Asn935Lys)
c.2778C>G (p.Asn926Lys)
7g.150947616G=CA1752429748KCNH2n.3788C=
c.2955C= (p.Asn985=)
c.1935C= (p.Asn645=)
c.2655C= (p.Asn885=)
c.*35C= (n.*35C=)
c.2805C= (p.Asn935=)
c.2778C= (p.Asn926=)
7g.150947616G>TCA369853054KCNH2n.3788C>A
c.2955C>A (p.Asn985Lys)
c.1935C>A (p.Asn645Lys)
c.2655C>A (p.Asn885Lys)
c.*35C>A (n.*35C>A)
c.2805C>A (p.Asn935Lys)
c.2778C>A (p.Asn926Lys)
7g.150947617T>ACA369853056KCNH2n.3787A>T
c.2954A>T (p.Asn985Ile)
c.1934A>T (p.Asn645Ile)
c.2654A>T (p.Asn885Ile)
c.*34A>T (n.*34A>T)
c.2804A>T (p.Asn935Ile)
c.2777A>T (p.Asn926Ile)
7g.150947617T>CCA007690KCNH2n.3787A>G
c.2954A>G (p.Asn985Ser)
c.1934A>G (p.Asn645Ser)
c.2654A>G (p.Asn885Ser)
c.*34A>G (n.*34A>G)
c.2804A>G (p.Asn935Ser)
c.2777A>G (p.Asn926Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947617T>GCA369853057KCNH2n.3787A>C
c.2954A>C (p.Asn985Thr)
c.1934A>C (p.Asn645Thr)
c.2654A>C (p.Asn885Thr)
c.*34A>C (n.*34A>C)
c.2804A>C (p.Asn935Thr)
c.2777A>C (p.Asn926Thr)
7g.150947617T=CA1752429755KCNH2n.3787A=
c.2954A= (p.Asn985=)
c.1934A= (p.Asn645=)
c.2654A= (p.Asn885=)
c.*34A= (n.*34A=)
c.2804A= (p.Asn935=)
c.2777A= (p.Asn926=)
7g.150947618dupCA2695208801KCNH2n.3787dup
c.2954dup (p.Asn985LysfsTer?)
c.1934dup (p.Asn645LysfsTer?)
c.2654dup (p.Asn885LysfsTer?)
c.*34dup (n.*34dup)
c.2804dup (p.Asn935LysfsTer?)
c.2777dup (p.Asn926LysfsTer?)
7g.150947618T>ACA369853058KCNH2n.3786A>T
c.2953A>T (p.Asn985Tyr)
c.1933A>T (p.Asn645Tyr)
c.2653A>T (p.Asn885Tyr)
c.*33A>T (n.*33A>T)
c.2803A>T (p.Asn935Tyr)
c.2776A>T (p.Asn926Tyr)
7g.150947618T>CCA369853059KCNH2n.3786A>G
c.2953A>G (p.Asn985Asp)
c.1933A>G (p.Asn645Asp)
c.2653A>G (p.Asn885Asp)
c.*33A>G (n.*33A>G)
c.2803A>G (p.Asn935Asp)
c.2776A>G (p.Asn926Asp)
7g.150947618T>GCA369853060KCNH2n.3786A>C
c.2953A>C (p.Asn985His)
c.1933A>C (p.Asn645His)
c.2653A>C (p.Asn885His)
c.*33A>C (n.*33A>C)
c.2803A>C (p.Asn935His)
c.2776A>C (p.Asn926His)
7g.150947618T=CA1752429759KCNH2n.3786A=
c.2953A= (p.Asn985=)
c.1933A= (p.Asn645=)
c.2653A= (p.Asn885=)
c.*33A= (n.*33A=)
c.2803A= (p.Asn935=)
c.2776A= (p.Asn926=)
7g.150947619G>ACA035613KCNH2n.3785C>T
c.2952C>T (p.Cys984=)
c.1932C>T (p.Cys644=)
c.2652C>T (p.Cys884=)
c.*32C>T (n.*32C>T)
c.2802C>T (p.Cys934=)
c.2775C>T (p.Cys925=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947619G>CCA369853061KCNH2n.3785C>G
c.2952C>G (p.Cys984Trp)
c.1932C>G (p.Cys644Trp)
c.2652C>G (p.Cys884Trp)
c.*32C>G (n.*32C>G)
c.2802C>G (p.Cys934Trp)
c.2775C>G (p.Cys925Trp)
7g.150947619G=CA1752429771KCNH2n.3785C=
c.2952C= (p.Cys984=)
c.1932C= (p.Cys644=)
c.2652C= (p.Cys884=)
c.*32C= (n.*32C=)
c.2802C= (p.Cys934=)
c.2775C= (p.Cys925=)
7g.150947619G>TCA007683KCNH2n.3785C>A
c.2952C>A (p.Cys984Ter)
c.1932C>A (p.Cys644Ter)
c.2652C>A (p.Cys884Ter)
c.*32C>A (n.*32C>A)
c.2802C>A (p.Cys934Ter)
c.2775C>A (p.Cys925Ter)
ClinVar dbSNP
7g.150947619dupCA16618399KCNH2n.3785dup
c.2952dup (p.Asn985GlnfsTer?)
c.1932dup (p.Asn645GlnfsTer?)
c.2652dup (p.Asn885GlnfsTer?)
c.*32dup (n.*32dup)
c.2802dup (p.Asn935GlnfsTer?)
c.2775dup (p.Asn926GlnfsTer?)
ClinVar dbSNP
7g.150947620C>ACA369853062KCNH2n.3784G>T
c.2951G>T (p.Cys984Phe)
c.1931G>T (p.Cys644Phe)
c.2651G>T (p.Cys884Phe)
c.*31G>T (n.*31G>T)
c.2801G>T (p.Cys934Phe)
c.2774G>T (p.Cys925Phe)

Number of alleles fetched