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.150948410_150948451delCA2685602460KCNH2n.3525+1_3525+42del
c.2692+1_2692+42del
c.1672+1_1672+42del
c.2392+1_2392+42del
c.2542+1_2542+42del
c.2515+1_2515+42del
 gnomAD v4
7g.150948413_150948446delCA2685602515KCNH2n.3523_3525+31del
c.2690_2692+31del
c.1670_1672+31del
c.2390_2392+31del
c.2540_2542+31del
c.2513_2515+31del
 gnomAD v4
7g.150948424_150948447dupCA2580077774KCNH2n.3525+2_3525+25dup
c.2692+2_2692+25dup
c.1672+2_1672+25dup
c.2392+2_2392+25dup
c.2542+2_2542+25dup
c.2515+2_2515+25dup
 ClinVar
7g.150948424_150948447delCA2685602569KCNH2n.3525+2_3525+25del
c.2692+2_2692+25del
c.1672+2_1672+25del
c.2392+2_2392+25del
c.2542+2_2542+25del
c.2515+2_2515+25del
 gnomAD v4
7g.150948433_150948448dupCA4566422KCNH2n.3521_3525+11dup
c.2688_2692+11dup
c.1668_1672+11dup
c.2388_2392+11dup
c.2538_2542+11dup
c.2511_2515+11dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948438_150948446delCA2685602696KCNH2n.3523_3525+6del
c.2690_2692+6del
c.1670_1672+6del
c.2390_2392+6del
c.2540_2542+6del
c.2513_2515+6del
 gnomAD v4
7g.150948444_150948446delinsCCTCA1752431235KCNH2n.3523_3525delinsAGG
c.2690_2692delinsAGG (p.Lys897=)
c.1670_1672delinsAGG (p.Lys557=)
c.2390_2392delinsAGG (p.Lys797=)
c.2540_2542delinsAGG (p.Lys847=)
c.2513_2515delinsAGG (p.Lys838=)
7g.150948445_150948446delinsGCA007155KCNH2n.3523_3524delinsC
c.2690_2691delinsC (p.Lys897ThrfsTer?)
c.1670_1671delinsC (p.Lys557ThrfsTer?)
c.2390_2391delinsC (p.Lys797ThrfsTer?)
c.2540_2541delinsC (p.Lys847ThrfsTer?)
c.2513_2514delinsC (p.Lys838ThrfsTer?)
 ClinVar dbSNP
7g.150948445_150948446delinsCTCA1752431250KCNH2n.3523_3524delinsAG
c.2690_2691delinsAG (p.Lys897=)
c.1670_1671delinsAG (p.Lys557=)
c.2390_2391delinsAG (p.Lys797=)
c.2540_2541delinsAG (p.Lys847=)
c.2513_2514delinsAG (p.Lys838=)
7g.150948445_150948446delinsGGCA2739278689KCNH2n.3523_3524delinsCC
c.2690_2691delinsCC (p.Lys897Thr)
c.1670_1671delinsCC (p.Lys557Thr)
c.2390_2391delinsCC (p.Lys797Thr)
c.2540_2541delinsCC (p.Lys847Thr)
c.2513_2514delinsCC (p.Lys838Thr)
 ClinVar
7g.150948445_150948446delinsTGCA2580077775KCNH2n.3523_3524delinsCA
c.2690_2691delinsCA (p.Lys897Thr)
c.1670_1671delinsCA (p.Lys557Thr)
c.2390_2391delinsCA (p.Lys797Thr)
c.2540_2541delinsCA (p.Lys847Thr)
c.2513_2514delinsCA (p.Lys838Thr)
 ClinVar
7g.150948445_150948449delinsCTTGTCA1752431249KCNH2n.3520_3524delinsACAAG
c.2687_2691delinsACAAG (p.Asp896=)
c.1667_1671delinsACAAG (p.Asp556=)
c.2387_2391delinsACAAG (p.Asp796=)
c.2537_2541delinsACAAG (p.Asp846=)
c.2510_2514delinsACAAG (p.Asp837=)
7g.150948449_150948475delCA2580077776KCNH2n.3498_3524del
c.2665_2691del (p.Leu889_Lys897del)
c.1645_1671del (p.Leu549_Lys557del)
c.2365_2391del (p.Leu789_Lys797del)
c.2515_2541del (p.Leu839_Lys847del)
c.2488_2514del (p.Leu830_Lys838del)
 ClinVar
7g.150948446T>ACA007169KCNH2n.3523A>T
c.2690A>T (p.Lys897Met)
c.1670A>T (p.Lys557Met)
c.2390A>T (p.Lys797Met)
c.2540A>T (p.Lys847Met)
c.2513A>T (p.Lys838Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948446T>CCA369853610KCNH2n.3523A>G
c.2690A>G (p.Lys897Arg)
c.1670A>G (p.Lys557Arg)
c.2390A>G (p.Lys797Arg)
c.2540A>G (p.Lys847Arg)
c.2513A>G (p.Lys838Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948446T>GCA007162KCNH2n.3523A>C
c.2690A>C (p.Lys897Thr)
c.1670A>C (p.Lys557Thr)
c.2390A>C (p.Lys797Thr)
c.2540A>C (p.Lys847Thr)
c.2513A>C (p.Lys838Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948446T=CA1752431259KCNH2n.3523A=
c.2690A= (p.Lys897=)
c.1670A= (p.Lys557=)
c.2390A= (p.Lys797=)
c.2540A= (p.Lys847=)
c.2513A= (p.Lys838=)
7g.150948446delinsGTGTCGCA915945571KCNH2n.3523delinsCGACAC
c.2690delinsCGACAC (p.Lys897ThrfsTer?)
c.1670delinsCGACAC (p.Lys557ThrfsTer?)
c.2390delinsCGACAC (p.Lys797ThrfsTer?)
c.2540delinsCGACAC (p.Lys847ThrfsTer?)
c.2513delinsCGACAC (p.Lys838ThrfsTer?)
 ClinVar dbSNP
7g.150948446delinsGTGTCCGCA2580077777KCNH2n.3523delinsCGGACAC
c.2690delinsCGGACAC (p.Lys897delinsThrAspThr)
c.1670delinsCGGACAC (p.Lys557delinsThrAspThr)
c.2390delinsCGGACAC (p.Lys797delinsThrAspThr)
c.2540delinsCGGACAC (p.Lys847delinsThrAspThr)
c.2513delinsCGGACAC (p.Lys838delinsThrAspThr)
 ClinVar
7g.150948447delCA2685602702KCNH2n.3523del
c.2690del (p.Lys897ArgfsTer?)
c.1670del (p.Lys557ArgfsTer?)
c.2390del (p.Lys797ArgfsTer?)
c.2540del (p.Lys847ArgfsTer?)
c.2513del (p.Lys838ArgfsTer?)
 gnomAD v4
7g.150948446_150948449delCA578701834KCNH2n.3520_3523del
c.2687_2690del (p.Asp896GlyfsTer?)
c.1667_1670del (p.Asp556GlyfsTer?)
c.2387_2390del (p.Asp796GlyfsTer?)
c.2537_2540del (p.Asp846GlyfsTer?)
c.2510_2513del (p.Asp837GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948447_150948449delCA578701824KCNH2n.3521_3523del
c.2688_2690del (p.Asp896_Lys897delinsGlu)
c.1668_1670del (p.Asp556_Lys557delinsGlu)
c.2388_2390del (p.Asp796_Lys797delinsGlu)
c.2538_2540del (p.Asp846_Lys847delinsGlu)
c.2511_2513del (p.Asp837_Lys838delinsGlu)
 gnomAD v2 gnomAD v3 gnomAD v4
7g.150948446_150948447insGTCCGCA4566424KCNH2n.3522_3523insCGGAC
c.2689_2690insCGGAC (p.Lys897ThrfsTer?)
c.1669_1670insCGGAC (p.Lys557ThrfsTer?)
c.2389_2390insCGGAC (p.Lys797ThrfsTer?)
c.2539_2540insCGGAC (p.Lys847ThrfsTer?)
c.2512_2513insCGGAC (p.Lys838ThrfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948447T>ACA369853612KCNH2n.3522A>T
c.2689A>T (p.Lys897Ter)
c.1669A>T (p.Lys557Ter)
c.2389A>T (p.Lys797Ter)
c.2539A>T (p.Lys847Ter)
c.2512A>T (p.Lys838Ter)
 gnomAD v4
7g.150948447T>CCA369853613KCNH2n.3522A>G
c.2689A>G (p.Lys897Glu)
c.1669A>G (p.Lys557Glu)
c.2389A>G (p.Lys797Glu)
c.2539A>G (p.Lys847Glu)
c.2512A>G (p.Lys838Glu)
 ClinVar
7g.150948447T>GCA369853615KCNH2n.3522A>C
c.2689A>C (p.Lys897Gln)
c.1669A>C (p.Lys557Gln)
c.2389A>C (p.Lys797Gln)
c.2539A>C (p.Lys847Gln)
c.2512A>C (p.Lys838Gln)
 ClinVar gnomAD v4
7g.150948448G>ACA458644969KCNH2n.3521C>T
c.2688C>T (p.Asp896=)
c.1668C>T (p.Asp556=)
c.2388C>T (p.Asp796=)
c.2538C>T (p.Asp846=)
c.2511C>T (p.Asp837=)
7g.150948448G>CCA369853617KCNH2n.3521C>G
c.2688C>G (p.Asp896Glu)
c.1668C>G (p.Asp556Glu)
c.2388C>G (p.Asp796Glu)
c.2538C>G (p.Asp846Glu)
c.2511C>G (p.Asp837Glu)
7g.150948448G=CA1752431265KCNH2n.3521C=
c.2688C= (p.Asp896=)
c.1668C= (p.Asp556=)
c.2388C= (p.Asp796=)
c.2538C= (p.Asp846=)
c.2511C= (p.Asp837=)
7g.150948448G>TCA369853618KCNH2n.3521C>A
c.2688C>A (p.Asp896Glu)
c.1668C>A (p.Asp556Glu)
c.2388C>A (p.Asp796Glu)
c.2538C>A (p.Asp846Glu)
c.2511C>A (p.Asp837Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948449T>ACA369853619KCNH2n.3520A>T
c.2687A>T (p.Asp896Val)
c.1667A>T (p.Asp556Val)
c.2387A>T (p.Asp796Val)
c.2537A>T (p.Asp846Val)
c.2510A>T (p.Asp837Val)
7g.150948449T>CCA034162KCNH2n.3520A>G
c.2687A>G (p.Asp896Gly)
c.1667A>G (p.Asp556Gly)
c.2387A>G (p.Asp796Gly)
c.2537A>G (p.Asp846Gly)
c.2510A>G (p.Asp837Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948449T>GCA369853621KCNH2n.3520A>C
c.2687A>C (p.Asp896Ala)
c.1667A>C (p.Asp556Ala)
c.2387A>C (p.Asp796Ala)
c.2537A>C (p.Asp846Ala)
c.2510A>C (p.Asp837Ala)
7g.150948449T=CA1752431268KCNH2n.3520A=
c.2687A= (p.Asp896=)
c.1667A= (p.Asp556=)
c.2387A= (p.Asp796=)
c.2537A= (p.Asp846=)
c.2510A= (p.Asp837=)
7g.150948449_150948456delinsTCCGTGCGCA1752431270KCNH2n.3513_3520delinsCGCACGGA
c.2680_2687delinsCGCACGGA (p.Arg894=)
c.1660_1667delinsCGCACGGA (p.Arg554=)
c.2380_2387delinsCGCACGGA (p.Arg794=)
c.2530_2537delinsCGCACGGA (p.Arg844=)
c.2503_2510delinsCGCACGGA (p.Arg835=)
7g.150948450C>ACA369853623KCNH2n.3519G>T
c.2686G>T (p.Asp896Tyr)
c.1666G>T (p.Asp556Tyr)
c.2386G>T (p.Asp796Tyr)
c.2536G>T (p.Asp846Tyr)
c.2509G>T (p.Asp837Tyr)
7g.150948450C=CA1752431273KCNH2n.3519G=
c.2686G= (p.Asp896=)
c.1666G= (p.Asp556=)
c.2386G= (p.Asp796=)
c.2536G= (p.Asp846=)
c.2509G= (p.Asp837=)
7g.150948450C>GCA369853625KCNH2n.3519G>C
c.2686G>C (p.Asp896His)
c.1666G>C (p.Asp556His)
c.2386G>C (p.Asp796His)
c.2536G>C (p.Asp846His)
c.2509G>C (p.Asp837His)
7g.150948450C>TCA369853626KCNH2n.3519G>A
c.2686G>A (p.Asp896Asn)
c.1666G>A (p.Asp556Asn)
c.2386G>A (p.Asp796Asn)
c.2536G>A (p.Asp846Asn)
c.2509G>A (p.Asp837Asn)
 dbSNP gnomAD v4
7g.150948452_150948458delCA658797036KCNH2n.3513_3519del
c.2680_2686del (p.Arg894ThrfsTer?)
c.1660_1666del (p.Arg554ThrfsTer?)
c.2380_2386del (p.Arg794ThrfsTer?)
c.2530_2536del (p.Arg844ThrfsTer?)
c.2503_2509del (p.Arg835ThrfsTer?)
 ClinVar dbSNP
7g.150948451C>ACA034153KCNH2n.3518G>T
c.2685G>T (p.Thr895=)
c.1665G>T (p.Thr555=)
c.2385G>T (p.Thr795=)
c.2535G>T (p.Thr845=)
c.2508G>T (p.Thr836=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948451C=CA1752431280KCNH2n.3518G=
c.2685G= (p.Thr895=)
c.1665G= (p.Thr555=)
c.2385G= (p.Thr795=)
c.2535G= (p.Thr845=)
c.2508G= (p.Thr836=)
7g.150948451C>GCA458644970KCNH2n.3518G>C
c.2685G>C (p.Thr895=)
c.1665G>C (p.Thr555=)
c.2385G>C (p.Thr795=)
c.2535G>C (p.Thr845=)
c.2508G>C (p.Thr836=)
 gnomAD v4
7g.150948451C>TCA458644971KCNH2n.3518G>A
c.2685G>A (p.Thr895=)
c.1665G>A (p.Thr555=)
c.2385G>A (p.Thr795=)
c.2535G>A (p.Thr845=)
c.2508G>A (p.Thr836=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150948453_150948456dupCA2499218791KCNH2n.3515_3518dup
c.2682_2685dup (p.Asp896HisfsTer25)
c.1662_1665dup (p.Asp556HisfsTer25)
c.2382_2385dup (p.Asp796HisfsTer25)
c.2682_2685dup (p.Asp896HisfsTer?)
c.2532_2535dup (p.Asp846HisfsTer25)
c.2505_2508dup (p.Asp837HisfsTer25)
 ClinVar dbSNP
7g.150948452delCA2573141854KCNH2n.3517del
c.2684del (p.Thr895ArgfsTer?)
c.1664del (p.Thr555ArgfsTer?)
c.2384del (p.Thr795ArgfsTer?)
c.2534del (p.Thr845ArgfsTer?)
c.2507del (p.Thr836ArgfsTer?)
 ClinVar dbSNP
7g.150948452G>ACA007147KCNH2n.3517C>T
c.2684C>T (p.Thr895Met)
c.1664C>T (p.Thr555Met)
c.2384C>T (p.Thr795Met)
c.2534C>T (p.Thr845Met)
c.2507C>T (p.Thr836Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948452G>CCA034086KCNH2n.3517C>G
c.2684C>G (p.Thr895Arg)
c.1664C>G (p.Thr555Arg)
c.2384C>G (p.Thr795Arg)
c.2534C>G (p.Thr845Arg)
c.2507C>G (p.Thr836Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948452G=CA1752431290KCNH2n.3517C=
c.2684C= (p.Thr895=)
c.1664C= (p.Thr555=)
c.2384C= (p.Thr795=)
c.2534C= (p.Thr845=)
c.2507C= (p.Thr836=)

Number of alleles fetched