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.150948964_150949161delCA2573141856KCNH2n.3232-108_3321del
c.2399-108_2488del
c.1379-108_1468del
c.2099-108_2188del
c.2249-108_2338del
c.2222-108_2311del
ClinVar dbSNP
7g.150948975_150948983dupCA1139660303KCNH2n.3299_3307dup
c.2466_2474dup (p.Leu825_Thr826insArgAlaLeu)
c.1446_1454dup (p.Leu485_Thr486insArgAlaLeu)
c.2166_2174dup (p.Leu725_Thr726insArgAlaLeu)
c.2316_2324dup (p.Leu775_Thr776insArgAlaLeu)
c.2289_2297dup (p.Leu766_Thr767insArgAlaLeu)
ClinVar dbSNP
7g.150948981G>ACA006812KCNH2n.3300C>T
c.2467C>T (p.Arg823Trp)
c.1447C>T (p.Arg483Trp)
c.2167C>T (p.Arg723Trp)
c.2317C>T (p.Arg773Trp)
c.2290C>T (p.Arg764Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948981G>CCA369855174KCNH2n.3300C>G
c.2467C>G (p.Arg823Gly)
c.1447C>G (p.Arg483Gly)
c.2167C>G (p.Arg723Gly)
c.2317C>G (p.Arg773Gly)
c.2290C>G (p.Arg764Gly)
7g.150948981G=CA1752432008KCNH2n.3300C=
c.2467C= (p.Arg823=)
c.1447C= (p.Arg483=)
c.2167C= (p.Arg723=)
c.2317C= (p.Arg773=)
c.2290C= (p.Arg764=)
7g.150948981G>TCA458645185KCNH2n.3300C>A
c.2467C>A (p.Arg823=)
c.1447C>A (p.Arg483=)
c.2167C>A (p.Arg723=)
c.2317C>A (p.Arg773=)
c.2290C>A (p.Arg764=)
7g.150948982C>ACA458645186KCNH2n.3299G>T
c.2466G>T (p.Val822=)
c.1446G>T (p.Val482=)
c.2166G>T (p.Val722=)
c.2316G>T (p.Val772=)
c.2289G>T (p.Val763=)
7g.150948982C=CA1752432013KCNH2n.3299G=
c.2466G= (p.Val822=)
c.1446G= (p.Val482=)
c.2166G= (p.Val722=)
c.2316G= (p.Val772=)
c.2289G= (p.Val763=)
7g.150948982C>GCA032868KCNH2n.3299G>C
c.2466G>C (p.Val822=)
c.1446G>C (p.Val482=)
c.2166G>C (p.Val722=)
c.2316G>C (p.Val772=)
c.2289G>C (p.Val763=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948982C>TCA458645187KCNH2n.3299G>A
c.2466G>A (p.Val822=)
c.1446G>A (p.Val482=)
c.2166G>A (p.Val722=)
c.2316G>A (p.Val772=)
c.2289G>A (p.Val763=)
7g.150948983A>CCA369855181KCNH2n.3298T>G
c.2465T>G (p.Val822Gly)
c.1445T>G (p.Val482Gly)
c.2165T>G (p.Val722Gly)
c.2315T>G (p.Val772Gly)
c.2288T>G (p.Val763Gly)
7g.150948983A>GCA369855178KCNH2n.3298T>C
c.2465T>C (p.Val822Ala)
c.1445T>C (p.Val482Ala)
c.2165T>C (p.Val722Ala)
c.2315T>C (p.Val772Ala)
c.2288T>C (p.Val763Ala)
ClinVar
7g.150948983A>TCA369855179KCNH2n.3298T>A
c.2465T>A (p.Val822Glu)
c.1445T>A (p.Val482Glu)
c.2165T>A (p.Val722Glu)
c.2315T>A (p.Val772Glu)
c.2288T>A (p.Val763Glu)
7g.150948983_150948986delinsCCCTCCA2695208828KCNH2n.3295_3298delinsGAGGG
c.2462_2465delinsGAGGG (p.Asp821GlyfsTer9)
c.1442_1445delinsGAGGG (p.Asp481GlyfsTer9)
c.2162_2165delinsGAGGG (p.Asp721GlyfsTer9)
c.2312_2315delinsGAGGG (p.Asp771GlyfsTer9)
c.2285_2288delinsGAGGG (p.Asp762GlyfsTer9)
7g.150948983_150948984insTCA2502903432KCNH2n.3297_3298insA
c.2464_2465insA (p.Val822AspfsTer8)
c.1444_1445insA (p.Val482AspfsTer8)
c.2164_2165insA (p.Val722AspfsTer8)
c.2314_2315insA (p.Val772AspfsTer8)
c.2287_2288insA (p.Val763AspfsTer8)
7g.150948984C>ACA369855183KCNH2n.3297G>T
c.2464G>T (p.Val822Leu)
c.1444G>T (p.Val482Leu)
c.2164G>T (p.Val722Leu)
c.2314G>T (p.Val772Leu)
c.2287G>T (p.Val763Leu)
7g.150948984C=CA1752432020KCNH2n.3297G=
c.2464G= (p.Val822=)
c.1444G= (p.Val482=)
c.2164G= (p.Val722=)
c.2314G= (p.Val772=)
c.2287G= (p.Val763=)
7g.150948984C>GCA006804KCNH2n.3297G>C
c.2464G>C (p.Val822Leu)
c.1444G>C (p.Val482Leu)
c.2164G>C (p.Val722Leu)
c.2314G>C (p.Val772Leu)
c.2287G>C (p.Val763Leu)
ClinVar dbSNP
7g.150948984C>TCA006796KCNH2n.3297G>A
c.2464G>A (p.Val822Met)
c.1444G>A (p.Val482Met)
c.2164G>A (p.Val722Met)
c.2314G>A (p.Val772Met)
c.2287G>A (p.Val763Met)
ClinVar dbSNP
7g.150948985A=CA1752432021KCNH2n.3296T=
c.2463T= (p.Asp821=)
c.1443T= (p.Asp481=)
c.2163T= (p.Asp721=)
c.2313T= (p.Asp771=)
c.2286T= (p.Asp762=)
7g.150948985A>CCA369855187KCNH2n.3296T>G
c.2463T>G (p.Asp821Glu)
c.1443T>G (p.Asp481Glu)
c.2163T>G (p.Asp721Glu)
c.2313T>G (p.Asp771Glu)
c.2286T>G (p.Asp762Glu)
7g.150948985A>GCA458645188KCNH2n.3296T>C
c.2463T>C (p.Asp821=)
c.1443T>C (p.Asp481=)
c.2163T>C (p.Asp721=)
c.2313T>C (p.Asp771=)
c.2286T>C (p.Asp762=)
ClinVar dbSNP gnomAD v4
7g.150948985A>TCA369855189KCNH2n.3296T>A
c.2463T>A (p.Asp821Glu)
c.1443T>A (p.Asp481Glu)
c.2163T>A (p.Asp721Glu)
c.2313T>A (p.Asp771Glu)
c.2286T>A (p.Asp762Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948986T>ACA369855191KCNH2n.3295A>T
c.2462A>T (p.Asp821Val)
c.1442A>T (p.Asp481Val)
c.2162A>T (p.Asp721Val)
c.2312A>T (p.Asp771Val)
c.2285A>T (p.Asp762Val)
ClinVar dbSNP
7g.150948986T>CCA369855193KCNH2n.3295A>G
c.2462A>G (p.Asp821Gly)
c.1442A>G (p.Asp481Gly)
c.2162A>G (p.Asp721Gly)
c.2312A>G (p.Asp771Gly)
c.2285A>G (p.Asp762Gly)
7g.150948986T>GCA369855192KCNH2n.3295A>C
c.2462A>C (p.Asp821Ala)
c.1442A>C (p.Asp481Ala)
c.2162A>C (p.Asp721Ala)
c.2312A>C (p.Asp771Ala)
c.2285A>C (p.Asp762Ala)
7g.150948987C>ACA369855196KCNH2n.3294G>T
c.2461G>T (p.Asp821Tyr)
c.1441G>T (p.Asp481Tyr)
c.2161G>T (p.Asp721Tyr)
c.2311G>T (p.Asp771Tyr)
c.2284G>T (p.Asp762Tyr)
7g.150948987C>GCA369855198KCNH2n.3294G>C
c.2461G>C (p.Asp821His)
c.1441G>C (p.Asp481His)
c.2161G>C (p.Asp721His)
c.2311G>C (p.Asp771His)
c.2284G>C (p.Asp762His)
7g.150948987C>TCA369855199KCNH2n.3294G>A
c.2461G>A (p.Asp821Asn)
c.1441G>A (p.Asp481Asn)
c.2161G>A (p.Asp721Asn)
c.2311G>A (p.Asp771Asn)
c.2284G>A (p.Asp762Asn)
7g.150948988_150948990delCA2561770020KCNH2n.3292_3294del
c.2459_2461del (p.Gly820del)
c.1439_1441del (p.Gly480del)
c.2159_2161del (p.Gly720del)
c.2309_2311del (p.Gly770del)
c.2282_2284del (p.Gly761del)
7g.150948988C>ACA458645189KCNH2n.3293G>T
c.2460G>T (p.Gly820=)
c.1440G>T (p.Gly480=)
c.2160G>T (p.Gly720=)
c.2310G>T (p.Gly770=)
c.2283G>T (p.Gly761=)
7g.150948988C>GCA458645190KCNH2n.3293G>C
c.2460G>C (p.Gly820=)
c.1440G>C (p.Gly480=)
c.2160G>C (p.Gly720=)
c.2310G>C (p.Gly770=)
c.2283G>C (p.Gly761=)
ClinVar gnomAD v4
7g.150948988C>TCA458645191KCNH2n.3293G>A
c.2460G>A (p.Gly820=)
c.1440G>A (p.Gly480=)
c.2160G>A (p.Gly720=)
c.2310G>A (p.Gly770=)
c.2283G>A (p.Gly761=)
dbSNP
7g.150948989C>ACA369855201KCNH2n.3292G>T
c.2459G>T (p.Gly820Val)
c.1439G>T (p.Gly480Val)
c.2159G>T (p.Gly720Val)
c.2309G>T (p.Gly770Val)
c.2282G>T (p.Gly761Val)
7g.150948989C>GCA369855203KCNH2n.3292G>C
c.2459G>C (p.Gly820Ala)
c.1439G>C (p.Gly480Ala)
c.2159G>C (p.Gly720Ala)
c.2309G>C (p.Gly770Ala)
c.2282G>C (p.Gly761Ala)
7g.150948989C>TCA369855205KCNH2n.3292G>A
c.2459G>A (p.Gly820Glu)
c.1439G>A (p.Gly480Glu)
c.2159G>A (p.Gly720Glu)
c.2309G>A (p.Gly770Glu)
c.2282G>A (p.Gly761Glu)
ClinVar gnomAD v4
7g.150948989_150948990insTAAAAAACA2567851703KCNH2n.3291_3292insTTTTTTA
c.2458_2459insTTTTTTA (p.Gly820ValfsTer3)
c.1438_1439insTTTTTTA (p.Gly480ValfsTer3)
c.2158_2159insTTTTTTA (p.Gly720ValfsTer3)
c.2308_2309insTTTTTTA (p.Gly770ValfsTer3)
c.2281_2282insTTTTTTA (p.Gly761ValfsTer3)
7g.150948989_150948990insAGGCCCTTGCATACACA2573141857KCNH2n.3291_3292insTGTATGCAAGGGCCT
c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp)
c.1438_1439insTGTATGCAAGGGCCT (p.Gly480delinsValTyrAlaArgAlaTrp)
c.2158_2159insTGTATGCAAGGGCCT (p.Gly720delinsValTyrAlaArgAlaTrp)
c.2308_2309insTGTATGCAAGGGCCT (p.Gly770delinsValTyrAlaArgAlaTrp)
c.2281_2282insTGTATGCAAGGGCCT (p.Gly761delinsValTyrAlaArgAlaTrp)
ClinVar dbSNP
7g.150948990C>ACA369855207KCNH2n.3291G>T
c.2458G>T (p.Gly820Trp)
c.1438G>T (p.Gly480Trp)
c.2158G>T (p.Gly720Trp)
c.2308G>T (p.Gly770Trp)
c.2281G>T (p.Gly761Trp)
7g.150948990C=CA1752432024KCNH2n.3291G=
c.2458G= (p.Gly820=)
c.1438G= (p.Gly480=)
c.2158G= (p.Gly720=)
c.2308G= (p.Gly770=)
c.2281G= (p.Gly761=)
7g.150948990C>GCA369855209KCNH2n.3291G>C
c.2458G>C (p.Gly820Arg)
c.1438G>C (p.Gly480Arg)
c.2158G>C (p.Gly720Arg)
c.2308G>C (p.Gly770Arg)
c.2281G>C (p.Gly761Arg)
ClinVar
7g.150948990C>TCA006787KCNH2n.3291G>A
c.2458G>A (p.Gly820Arg)
c.1438G>A (p.Gly480Arg)
c.2158G>A (p.Gly720Arg)
c.2308G>A (p.Gly770Arg)
c.2281G>A (p.Gly761Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.150948991G>ACA032843KCNH2n.3290C>T
c.2457C>T (p.Asn819=)
c.1437C>T (p.Asn479=)
c.2157C>T (p.Asn719=)
c.2307C>T (p.Asn769=)
c.2280C>T (p.Asn760=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948991G>CCA169074833KCNH2n.3290C>G
c.2457C>G (p.Asn819Lys)
c.1437C>G (p.Asn479Lys)
c.2157C>G (p.Asn719Lys)
c.2307C>G (p.Asn769Lys)
c.2280C>G (p.Asn760Lys)
ClinVar dbSNP
7g.150948991G=CA1752432026KCNH2n.3290C=
c.2457C= (p.Asn819=)
c.1437C= (p.Asn479=)
c.2157C= (p.Asn719=)
c.2307C= (p.Asn769=)
c.2280C= (p.Asn760=)
7g.150948991G>TCA369855213KCNH2n.3290C>A
c.2457C>A (p.Asn819Lys)
c.1437C>A (p.Asn479Lys)
c.2157C>A (p.Asn719Lys)
c.2307C>A (p.Asn769Lys)
c.2280C>A (p.Asn760Lys)
dbSNP gnomAD v3 gnomAD v4
7g.150948991_150948992delinsGTCA1752432030KCNH2n.3289_3290delinsAC
c.2456_2457delinsAC (p.Asn819=)
c.1436_1437delinsAC (p.Asn479=)
c.2156_2157delinsAC (p.Asn719=)
c.2306_2307delinsAC (p.Asn769=)
c.2279_2280delinsAC (p.Asn760=)
7g.150948992T>ACA369855219KCNH2n.3289A>T
c.2456A>T (p.Asn819Ile)
c.1436A>T (p.Asn479Ile)
c.2156A>T (p.Asn719Ile)
c.2306A>T (p.Asn769Ile)
c.2279A>T (p.Asn760Ile)
7g.150948992T>CCA369855221KCNH2n.3289A>G
c.2456A>G (p.Asn819Ser)
c.1436A>G (p.Asn479Ser)
c.2156A>G (p.Asn719Ser)
c.2306A>G (p.Asn769Ser)
c.2279A>G (p.Asn760Ser)
7g.150948992T>GCA369855217KCNH2n.3289A>C
c.2456A>C (p.Asn819Thr)
c.1436A>C (p.Asn479Thr)
c.2156A>C (p.Asn719Thr)
c.2306A>C (p.Asn769Thr)
c.2279A>C (p.Asn760Thr)
7g.150948993delCA006779KCNH2n.3289del
c.2456del (p.Asn819ThrfsTer?)
c.1436del (p.Asn479ThrfsTer?)
c.2156del (p.Asn719ThrfsTer?)
c.2306del (p.Asn769ThrfsTer?)
c.2279del (p.Asn760ThrfsTer?)
ClinVar dbSNP
7g.150948993T>ACA369855223KCNH2n.3288A>T
c.2455A>T (p.Asn819Tyr)
c.1435A>T (p.Asn479Tyr)
c.2155A>T (p.Asn719Tyr)
c.2305A>T (p.Asn769Tyr)
c.2278A>T (p.Asn760Tyr)
7g.150948993T>CCA369855225KCNH2n.3288A>G
c.2455A>G (p.Asn819Asp)
c.1435A>G (p.Asn479Asp)
c.2155A>G (p.Asn719Asp)
c.2305A>G (p.Asn769Asp)
c.2278A>G (p.Asn760Asp)
7g.150948993T>GCA369855227KCNH2n.3288A>C
c.2455A>C (p.Asn819His)
c.1435A>C (p.Asn479His)
c.2155A>C (p.Asn719His)
c.2305A>C (p.Asn769His)
c.2278A>C (p.Asn760His)
7g.150948994C>ACA169074843KCNH2n.3287G>T
c.2454G>T (p.Ser818=)
c.1434G>T (p.Ser478=)
c.2154G>T (p.Ser718=)
c.2304G>T (p.Ser768=)
c.2277G>T (p.Ser759=)
dbSNP
7g.150948994C=CA1752432035KCNH2n.3287G=
c.2454G= (p.Ser818=)
c.1434G= (p.Ser478=)
c.2154G= (p.Ser718=)
c.2304G= (p.Ser768=)
c.2277G= (p.Ser759=)
7g.150948994C>GCA032829KCNH2n.3287G>C
c.2454G>C (p.Ser818=)
c.1434G>C (p.Ser478=)
c.2154G>C (p.Ser718=)
c.2304G>C (p.Ser768=)
c.2277G>C (p.Ser759=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948994C>TCA006771KCNH2n.3287G>A
c.2454G>A (p.Ser818=)
c.1434G>A (p.Ser478=)
c.2154G>A (p.Ser718=)
c.2304G>A (p.Ser768=)
c.2277G>A (p.Ser759=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948995G>ACA006763KCNH2n.3286C>T
c.2453C>T (p.Ser818Leu)
c.1433C>T (p.Ser478Leu)
c.2153C>T (p.Ser718Leu)
c.2303C>T (p.Ser768Leu)
c.2276C>T (p.Ser759Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948995G>CCA369855233KCNH2n.3286C>G
c.2453C>G (p.Ser818Trp)
c.1433C>G (p.Ser478Trp)
c.2153C>G (p.Ser718Trp)
c.2303C>G (p.Ser768Trp)
c.2276C>G (p.Ser759Trp)
ClinVar COSMIC
7g.150948995G=CA1752432041KCNH2n.3286C=
c.2453C= (p.Ser818=)
c.1433C= (p.Ser478=)
c.2153C= (p.Ser718=)
c.2303C= (p.Ser768=)
c.2276C= (p.Ser759=)
7g.150948995G>TCA369855235KCNH2n.3286C>A
c.2453C>A (p.Ser818Ter)
c.1433C>A (p.Ser478Ter)
c.2153C>A (p.Ser718Ter)
c.2303C>A (p.Ser768Ter)
c.2276C>A (p.Ser759Ter)
7g.150948996A=CA1752432044KCNH2n.3285T=
c.2452T= (p.Ser818=)
c.1432T= (p.Ser478=)
c.2152T= (p.Ser718=)
c.2302T= (p.Ser768=)
c.2275T= (p.Ser759=)
7g.150948996A>CCA369855238KCNH2n.3285T>G
c.2452T>G (p.Ser818Ala)
c.1432T>G (p.Ser478Ala)
c.2152T>G (p.Ser718Ala)
c.2302T>G (p.Ser768Ala)
c.2275T>G (p.Ser759Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948996A>GCA006757KCNH2n.3285T>C
c.2452T>C (p.Ser818Pro)
c.1432T>C (p.Ser478Pro)
c.2152T>C (p.Ser718Pro)
c.2302T>C (p.Ser768Pro)
c.2275T>C (p.Ser759Pro)
ClinVar dbSNP
7g.150948996A>TCA369855240KCNH2n.3285T>A
c.2452T>A (p.Ser818Thr)
c.1432T>A (p.Ser478Thr)
c.2152T>A (p.Ser718Thr)
c.2302T>A (p.Ser768Thr)
c.2275T>A (p.Ser759Thr)
7g.150948996_150949006delinsACTTGCCAGGCCA1752432047KCNH2n.3275_3285delinsGCCTGGCAAGT
c.2442_2452delinsGCCTGGCAAGT (p.Arg814=)
c.1422_1432delinsGCCTGGCAAGT (p.Arg474=)
c.2142_2152delinsGCCTGGCAAGT (p.Arg714=)
c.2292_2302delinsGCCTGGCAAGT (p.Arg764=)
c.2265_2275delinsGCCTGGCAAGT (p.Arg755=)
7g.150948997C>ACA369855243KCNH2n.3284G>T
c.2451G>T (p.Lys817Asn)
c.1431G>T (p.Lys477Asn)
c.2151G>T (p.Lys717Asn)
c.2301G>T (p.Lys767Asn)
c.2274G>T (p.Lys758Asn)
7g.150948997C>GCA369855245KCNH2n.3284G>C
c.2451G>C (p.Lys817Asn)
c.1431G>C (p.Lys477Asn)
c.2151G>C (p.Lys717Asn)
c.2301G>C (p.Lys767Asn)
c.2274G>C (p.Lys758Asn)
7g.150948997C>TCA458645192KCNH2n.3284G>A
c.2451G>A (p.Lys817=)
c.1431G>A (p.Lys477=)
c.2151G>A (p.Lys717=)
c.2301G>A (p.Lys767=)
c.2274G>A (p.Lys758=)
7g.150949002_150949011delCA658797040KCNH2n.3275_3284del
c.2442_2451del (p.Arg814SerfsTer?)
c.1422_1431del (p.Arg474SerfsTer?)
c.2142_2151del (p.Arg714SerfsTer?)
c.2292_2301del (p.Arg764SerfsTer?)
c.2265_2274del (p.Arg755SerfsTer?)
ClinVar dbSNP
7g.150948998T>ACA369855251KCNH2n.3283A>T
c.2450A>T (p.Lys817Met)
c.1430A>T (p.Lys477Met)
c.2150A>T (p.Lys717Met)
c.2300A>T (p.Lys767Met)
c.2273A>T (p.Lys758Met)
7g.150948998T>CCA369855247KCNH2n.3283A>G
c.2450A>G (p.Lys817Arg)
c.1430A>G (p.Lys477Arg)
c.2150A>G (p.Lys717Arg)
c.2300A>G (p.Lys767Arg)
c.2273A>G (p.Lys758Arg)
COSMIC COSMIC
7g.150948998T>GCA369855249KCNH2n.3283A>C
c.2450A>C (p.Lys817Thr)
c.1430A>C (p.Lys477Thr)
c.2150A>C (p.Lys717Thr)
c.2300A>C (p.Lys767Thr)
c.2273A>C (p.Lys758Thr)
7g.150948999T>ACA369855253KCNH2n.3282A>T
c.2449A>T (p.Lys817Ter)
c.1429A>T (p.Lys477Ter)
c.2149A>T (p.Lys717Ter)
c.2299A>T (p.Lys767Ter)
c.2272A>T (p.Lys758Ter)
7g.150948999T>CCA369855254KCNH2n.3282A>G
c.2449A>G (p.Lys817Glu)
c.1429A>G (p.Lys477Glu)
c.2149A>G (p.Lys717Glu)
c.2299A>G (p.Lys767Glu)
c.2272A>G (p.Lys758Glu)
7g.150948999T>GCA369855255KCNH2n.3282A>C
c.2449A>C (p.Lys817Gln)
c.1429A>C (p.Lys477Gln)
c.2149A>C (p.Lys717Gln)
c.2299A>C (p.Lys767Gln)
c.2272A>C (p.Lys758Gln)
7g.150949000G>ACA458645193KCNH2n.3281C>T
c.2448C>T (p.Gly816=)
c.1428C>T (p.Gly476=)
c.2148C>T (p.Gly716=)
c.2298C>T (p.Gly766=)
c.2271C>T (p.Gly757=)
7g.150949000G>CCA169074886KCNH2n.3281C>G
c.2448C>G (p.Gly816=)
c.1428C>G (p.Gly476=)
c.2148C>G (p.Gly716=)
c.2298C>G (p.Gly766=)
c.2271C>G (p.Gly757=)
ClinVar dbSNP gnomAD v4
7g.150949000G=CA1752432052KCNH2n.3281C=
c.2448C= (p.Gly816=)
c.1428C= (p.Gly476=)
c.2148C= (p.Gly716=)
c.2298C= (p.Gly766=)
c.2271C= (p.Gly757=)
7g.150949000G>TCA458645194KCNH2n.3281C>A
c.2448C>A (p.Gly816=)
c.1428C>A (p.Gly476=)
c.2148C>A (p.Gly716=)
c.2298C>A (p.Gly766=)
c.2271C>A (p.Gly757=)
7g.150949001C>ACA369855258KCNH2n.3280G>T
c.2447G>T (p.Gly816Val)
c.1427G>T (p.Gly476Val)
c.2147G>T (p.Gly716Val)
c.2297G>T (p.Gly766Val)
c.2270G>T (p.Gly757Val)
7g.150949001C>GCA369855259KCNH2n.3280G>C
c.2447G>C (p.Gly816Ala)
c.1427G>C (p.Gly476Ala)
c.2147G>C (p.Gly716Ala)
c.2297G>C (p.Gly766Ala)
c.2270G>C (p.Gly757Ala)
7g.150949001C>TCA369855260KCNH2n.3280G>A
c.2447G>A (p.Gly816Asp)
c.1427G>A (p.Gly476Asp)
c.2147G>A (p.Gly716Asp)
c.2297G>A (p.Gly766Asp)
c.2270G>A (p.Gly757Asp)
7g.150949002C>ACA369855262KCNH2n.3279G>T
c.2446G>T (p.Gly816Cys)
c.1426G>T (p.Gly476Cys)
c.2146G>T (p.Gly716Cys)
c.2296G>T (p.Gly766Cys)
c.2269G>T (p.Gly757Cys)
7g.150949002C>GCA369855266KCNH2n.3279G>C
c.2446G>C (p.Gly816Arg)
c.1426G>C (p.Gly476Arg)
c.2146G>C (p.Gly716Arg)
c.2296G>C (p.Gly766Arg)
c.2269G>C (p.Gly757Arg)
7g.150949002C>TCA369855264KCNH2n.3279G>A
c.2446G>A (p.Gly816Ser)
c.1426G>A (p.Gly476Ser)
c.2146G>A (p.Gly716Ser)
c.2296G>A (p.Gly766Ser)
c.2269G>A (p.Gly757Ser)
7g.150949003A=CA1752432055KCNH2n.3278T=
c.2445T= (p.Pro815=)
c.1425T= (p.Pro475=)
c.2145T= (p.Pro715=)
c.2295T= (p.Pro765=)
c.2268T= (p.Pro756=)
7g.150949003A>CCA458645195KCNH2n.3278T>G
c.2445T>G (p.Pro815=)
c.1425T>G (p.Pro475=)
c.2145T>G (p.Pro715=)
c.2295T>G (p.Pro765=)
c.2268T>G (p.Pro756=)
7g.150949003A>GCA032754KCNH2n.3278T>C
c.2445T>C (p.Pro815=)
c.1425T>C (p.Pro475=)
c.2145T>C (p.Pro715=)
c.2295T>C (p.Pro765=)
c.2268T>C (p.Pro756=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150949003A>TCA458645196KCNH2n.3278T>A
c.2445T>A (p.Pro815=)
c.1425T>A (p.Pro475=)
c.2145T>A (p.Pro715=)
c.2295T>A (p.Pro765=)
c.2268T>A (p.Pro756=)
7g.150949004G>ACA369855270KCNH2n.3277C>T
c.2444C>T (p.Pro815Leu)
c.1424C>T (p.Pro475Leu)
c.2144C>T (p.Pro715Leu)
c.2294C>T (p.Pro765Leu)
c.2267C>T (p.Pro756Leu)
7g.150949004G>CCA369855271KCNH2n.3277C>G
c.2444C>G (p.Pro815Arg)
c.1424C>G (p.Pro475Arg)
c.2144C>G (p.Pro715Arg)
c.2294C>G (p.Pro765Arg)
c.2267C>G (p.Pro756Arg)
7g.150949004G>TCA369855274KCNH2n.3277C>A
c.2444C>A (p.Pro815His)
c.1424C>A (p.Pro475His)
c.2144C>A (p.Pro715His)
c.2294C>A (p.Pro765His)
c.2267C>A (p.Pro756His)
7g.150949005G>ACA369855276KCNH2n.3276C>T
c.2443C>T (p.Pro815Ser)
c.1423C>T (p.Pro475Ser)
c.2143C>T (p.Pro715Ser)
c.2293C>T (p.Pro765Ser)
c.2266C>T (p.Pro756Ser)
7g.150949005G>CCA369855280KCNH2n.3276C>G
c.2443C>G (p.Pro815Ala)
c.1423C>G (p.Pro475Ala)
c.2143C>G (p.Pro715Ala)
c.2293C>G (p.Pro765Ala)
c.2266C>G (p.Pro756Ala)
ClinVar
7g.150949005G>TCA369855278KCNH2n.3276C>A
c.2443C>A (p.Pro815Thr)
c.1423C>A (p.Pro475Thr)
c.2143C>A (p.Pro715Thr)
c.2293C>A (p.Pro765Thr)
c.2266C>A (p.Pro756Thr)
7g.150949006C>ACA369855282KCNH2n.3275G>T
c.2442G>T (p.Arg814Ser)
c.1422G>T (p.Arg474Ser)
c.2142G>T (p.Arg714Ser)
c.2292G>T (p.Arg764Ser)
c.2265G>T (p.Arg755Ser)
7g.150949006C>GCA369855284KCNH2n.3275G>C
c.2442G>C (p.Arg814Ser)
c.1422G>C (p.Arg474Ser)
c.2142G>C (p.Arg714Ser)
c.2292G>C (p.Arg764Ser)
c.2265G>C (p.Arg755Ser)
7g.150949006C>TCA458645197KCNH2n.3275G>A
c.2442G>A (p.Arg814=)
c.1422G>A (p.Arg474=)
c.2142G>A (p.Arg714=)
c.2292G>A (p.Arg764=)
c.2265G>A (p.Arg755=)
7g.150949007C>ACA369855286KCNH2n.3274G>T
c.2441G>T (p.Arg814Met)
c.1421G>T (p.Arg474Met)
c.2141G>T (p.Arg714Met)
c.2291G>T (p.Arg764Met)
c.2264G>T (p.Arg755Met)
dbSNP
7g.150949007C>GCA369855288KCNH2n.3274G>C
c.2441G>C (p.Arg814Thr)
c.1421G>C (p.Arg474Thr)
c.2141G>C (p.Arg714Thr)
c.2291G>C (p.Arg764Thr)
c.2264G>C (p.Arg755Thr)
7g.150949007C>TCA369855290KCNH2n.3274G>A
c.2441G>A (p.Arg814Lys)
c.1421G>A (p.Arg474Lys)
c.2141G>A (p.Arg714Lys)
c.2291G>A (p.Arg764Lys)
c.2264G>A (p.Arg755Lys)
ClinVar gnomAD v4
7g.150949008T>ACA369855292KCNH2n.3273A>T
c.2440A>T (p.Arg814Trp)
c.1420A>T (p.Arg474Trp)
c.2140A>T (p.Arg714Trp)
c.2290A>T (p.Arg764Trp)
c.2263A>T (p.Arg755Trp)
7g.150949008T>CCA369855294KCNH2n.3273A>G
c.2440A>G (p.Arg814Gly)
c.1420A>G (p.Arg474Gly)
c.2140A>G (p.Arg714Gly)
c.2290A>G (p.Arg764Gly)
c.2263A>G (p.Arg755Gly)
7g.150949008T>GCA458645198KCNH2n.3273A>C
c.2440A>C (p.Arg814=)
c.1420A>C (p.Arg474=)
c.2140A>C (p.Arg714=)
c.2290A>C (p.Arg764=)
c.2263A>C (p.Arg755=)
7g.150949009T>ACA458645199KCNH2n.3272A>T
c.2439A>T (p.Ala813=)
c.1419A>T (p.Ala473=)
c.2139A>T (p.Ala713=)
c.2289A>T (p.Ala763=)
c.2262A>T (p.Ala754=)
7g.150949009T>CCA458645201KCNH2n.3272A>G
c.2439A>G (p.Ala813=)
c.1419A>G (p.Ala473=)
c.2139A>G (p.Ala713=)
c.2289A>G (p.Ala763=)
c.2262A>G (p.Ala754=)
7g.150949009T>GCA458645200KCNH2n.3272A>C
c.2439A>C (p.Ala813=)
c.1419A>C (p.Ala473=)
c.2139A>C (p.Ala713=)
c.2289A>C (p.Ala763=)
c.2262A>C (p.Ala754=)
7g.150949010G>ACA369855296KCNH2n.3271C>T
c.2438C>T (p.Ala813Val)
c.1418C>T (p.Ala473Val)
c.2138C>T (p.Ala713Val)
c.2288C>T (p.Ala763Val)
c.2261C>T (p.Ala754Val)
dbSNP
7g.150949010G>CCA369855298KCNH2n.3271C>G
c.2438C>G (p.Ala813Gly)
c.1418C>G (p.Ala473Gly)
c.2138C>G (p.Ala713Gly)
c.2288C>G (p.Ala763Gly)
c.2261C>G (p.Ala754Gly)
ClinVar gnomAD v4
7g.150949010G=CA1752432059KCNH2n.3271C=
c.2438C= (p.Ala813=)
c.1418C= (p.Ala473=)
c.2138C= (p.Ala713=)
c.2288C= (p.Ala763=)
c.2261C= (p.Ala754=)
7g.150949010G>TCA369855300KCNH2n.3271C>A
c.2438C>A (p.Ala813Glu)
c.1418C>A (p.Ala473Glu)
c.2138C>A (p.Ala713Glu)
c.2288C>A (p.Ala763Glu)
c.2261C>A (p.Ala754Glu)
7g.150949011C>ACA369855302KCNH2n.3270G>T
c.2437G>T (p.Ala813Ser)
c.1417G>T (p.Ala473Ser)
c.2137G>T (p.Ala713Ser)
c.2287G>T (p.Ala763Ser)
c.2260G>T (p.Ala754Ser)
7g.150949011C=CA1752432062KCNH2n.3270G=
c.2437G= (p.Ala813=)
c.1417G= (p.Ala473=)
c.2137G= (p.Ala713=)
c.2287G= (p.Ala763=)
c.2260G= (p.Ala754=)
7g.150949011C>GCA369855304KCNH2n.3270G>C
c.2437G>C (p.Ala813Pro)
c.1417G>C (p.Ala473Pro)
c.2137G>C (p.Ala713Pro)
c.2287G>C (p.Ala763Pro)
c.2260G>C (p.Ala754Pro)
7g.150949011C>TCA369855306KCNH2n.3270G>A
c.2437G>A (p.Ala813Thr)
c.1417G>A (p.Ala473Thr)
c.2137G>A (p.Ala713Thr)
c.2287G>A (p.Ala763Thr)
c.2260G>A (p.Ala754Thr)
ClinVar dbSNP
7g.150949012A=CA1752432063KCNH2n.3269T=
c.2436T= (p.Tyr812=)
c.1416T= (p.Tyr472=)
c.2136T= (p.Tyr712=)
c.2286T= (p.Tyr762=)
c.2259T= (p.Tyr753=)
7g.150949012A>CCA369855310KCNH2n.3269T>G
c.2436T>G (p.Tyr812Ter)
c.1416T>G (p.Tyr472Ter)
c.2136T>G (p.Tyr712Ter)
c.2286T>G (p.Tyr762Ter)
c.2259T>G (p.Tyr753Ter)
7g.150949012A>GCA458645202KCNH2n.3269T>C
c.2436T>C (p.Tyr812=)
c.1416T>C (p.Tyr472=)
c.2136T>C (p.Tyr712=)
c.2286T>C (p.Tyr762=)
c.2259T>C (p.Tyr753=)
dbSNP
7g.150949012A>TCA369855308KCNH2n.3269T>A
c.2436T>A (p.Tyr812Ter)
c.1416T>A (p.Tyr472Ter)
c.2136T>A (p.Tyr712Ter)
c.2286T>A (p.Tyr762Ter)
c.2259T>A (p.Tyr753Ter)
ClinVar dbSNP
7g.150949012dupCA2695208829KCNH2n.3269dup
c.2436dup (p.Ala813CysfsTer17)
c.1416dup (p.Ala473CysfsTer17)
c.2136dup (p.Ala713CysfsTer17)
c.2286dup (p.Ala763CysfsTer17)
c.2259dup (p.Ala754CysfsTer17)
7g.150949013T>ACA369855313KCNH2n.3268A>T
c.2435A>T (p.Tyr812Phe)
c.1415A>T (p.Tyr472Phe)
c.2135A>T (p.Tyr712Phe)
c.2285A>T (p.Tyr762Phe)
c.2258A>T (p.Tyr753Phe)
7g.150949013T>CCA369855314KCNH2n.3268A>G
c.2435A>G (p.Tyr812Cys)
c.1415A>G (p.Tyr472Cys)
c.2135A>G (p.Tyr712Cys)
c.2285A>G (p.Tyr762Cys)
c.2258A>G (p.Tyr753Cys)
ClinVar dbSNP
7g.150949013T>GCA369855316KCNH2n.3268A>C
c.2435A>C (p.Tyr812Ser)
c.1415A>C (p.Tyr472Ser)
c.2135A>C (p.Tyr712Ser)
c.2285A>C (p.Tyr762Ser)
c.2258A>C (p.Tyr753Ser)
dbSNP gnomAD v2 gnomAD v4
7g.150949013T=CA1752432067KCNH2n.3268A=
c.2435A= (p.Tyr812=)
c.1415A= (p.Tyr472=)
c.2135A= (p.Tyr712=)
c.2285A= (p.Tyr762=)
c.2258A= (p.Tyr753=)
7g.150949014A>CCA369855319KCNH2n.3267T>G
c.2434T>G (p.Tyr812Asp)
c.1414T>G (p.Tyr472Asp)
c.2134T>G (p.Tyr712Asp)
c.2284T>G (p.Tyr762Asp)
c.2257T>G (p.Tyr753Asp)
7g.150949014A>GCA369855320KCNH2n.3267T>C
c.2434T>C (p.Tyr812His)
c.1414T>C (p.Tyr472His)
c.2134T>C (p.Tyr712His)
c.2284T>C (p.Tyr762His)
c.2257T>C (p.Tyr753His)
7g.150949014A>TCA369855321KCNH2n.3267T>A
c.2434T>A (p.Tyr812Asn)
c.1414T>A (p.Tyr472Asn)
c.2134T>A (p.Tyr712Asn)
c.2284T>A (p.Tyr762Asn)
c.2257T>A (p.Tyr753Asn)
7g.150949015C>ACA458645203KCNH2n.3266G>T
c.2433G>T (p.Leu811=)
c.1413G>T (p.Leu471=)
c.2133G>T (p.Leu711=)
c.2283G>T (p.Leu761=)
c.2256G>T (p.Leu752=)
dbSNP
7g.150949015C=CA1752432069KCNH2n.3266G=
c.2433G= (p.Leu811=)
c.1413G= (p.Leu471=)
c.2133G= (p.Leu711=)
c.2283G= (p.Leu761=)
c.2256G= (p.Leu752=)
7g.150949015C>GCA458645205KCNH2n.3266G>C
c.2433G>C (p.Leu811=)
c.1413G>C (p.Leu471=)
c.2133G>C (p.Leu711=)
c.2283G>C (p.Leu761=)
c.2256G>C (p.Leu752=)
7g.150949015C>TCA458645204KCNH2n.3266G>A
c.2433G>A (p.Leu811=)
c.1413G>A (p.Leu471=)
c.2133G>A (p.Leu711=)
c.2283G>A (p.Leu761=)
c.2256G>A (p.Leu752=)
ClinVar dbSNP gnomAD v4
7g.150949016A=CA1752432070KCNH2n.3265T=
c.2432T= (p.Leu811=)
c.1412T= (p.Leu471=)
c.2132T= (p.Leu711=)
c.2282T= (p.Leu761=)
c.2255T= (p.Leu752=)
7g.150949016A>CCA369855323KCNH2n.3265T>G
c.2432T>G (p.Leu811Arg)
c.1412T>G (p.Leu471Arg)
c.2132T>G (p.Leu711Arg)
c.2282T>G (p.Leu761Arg)
c.2255T>G (p.Leu752Arg)
7g.150949016A>GCA369855326KCNH2n.3265T>C
c.2432T>C (p.Leu811Pro)
c.1412T>C (p.Leu471Pro)
c.2132T>C (p.Leu711Pro)
c.2282T>C (p.Leu761Pro)
c.2255T>C (p.Leu752Pro)
dbSNP
7g.150949016A>TCA369855328KCNH2n.3265T>A
c.2432T>A (p.Leu811Gln)
c.1412T>A (p.Leu471Gln)
c.2132T>A (p.Leu711Gln)
c.2282T>A (p.Leu761Gln)
c.2255T>A (p.Leu752Gln)
7g.150949017G>ACA458645206KCNH2n.3264C>T
c.2431C>T (p.Leu811=)
c.1411C>T (p.Leu471=)
c.2131C>T (p.Leu711=)
c.2281C>T (p.Leu761=)
c.2254C>T (p.Leu752=)
gnomAD v4
7g.150949017G>CCA369855330KCNH2n.3264C>G
c.2431C>G (p.Leu811Val)
c.1411C>G (p.Leu471Val)
c.2131C>G (p.Leu711Val)
c.2281C>G (p.Leu761Val)
c.2254C>G (p.Leu752Val)
7g.150949017G>TCA369855331KCNH2n.3264C>A
c.2431C>A (p.Leu811Met)
c.1411C>A (p.Leu471Met)
c.2131C>A (p.Leu711Met)
c.2281C>A (p.Leu761Met)
c.2254C>A (p.Leu752Met)
7g.150949018G>ACA458645207KCNH2n.3263C>T
c.2430C>T (p.Asn810=)
c.1410C>T (p.Asn470=)
c.2130C>T (p.Asn710=)
c.2280C>T (p.Asn760=)
c.2253C>T (p.Asn751=)
ClinVar
7g.150949018G>CCA169074887KCNH2n.3263C>G
c.2430C>G (p.Asn810Lys)
c.1410C>G (p.Asn470Lys)
c.2130C>G (p.Asn710Lys)
c.2280C>G (p.Asn760Lys)
c.2253C>G (p.Asn751Lys)
dbSNP
7g.150949018G=CA1752432072KCNH2n.3263C=
c.2430C= (p.Asn810=)
c.1410C= (p.Asn470=)
c.2130C= (p.Asn710=)
c.2280C= (p.Asn760=)
c.2253C= (p.Asn751=)
7g.150949018G>TCA369855335KCNH2n.3263C>A
c.2430C>A (p.Asn810Lys)
c.1410C>A (p.Asn470Lys)
c.2130C>A (p.Asn710Lys)
c.2280C>A (p.Asn760Lys)
c.2253C>A (p.Asn751Lys)
7g.150949019T>ACA369855337KCNH2n.3262A>T
c.2429A>T (p.Asn810Ile)
c.1409A>T (p.Asn470Ile)
c.2129A>T (p.Asn710Ile)
c.2279A>T (p.Asn760Ile)
c.2252A>T (p.Asn751Ile)
7g.150949019T>CCA369855341KCNH2n.3262A>G
c.2429A>G (p.Asn810Ser)
c.1409A>G (p.Asn470Ser)
c.2129A>G (p.Asn710Ser)
c.2279A>G (p.Asn760Ser)
c.2252A>G (p.Asn751Ser)
7g.150949019T>GCA369855339KCNH2n.3262A>C
c.2429A>C (p.Asn810Thr)
c.1409A>C (p.Asn470Thr)
c.2129A>C (p.Asn710Thr)
c.2279A>C (p.Asn760Thr)
c.2252A>C (p.Asn751Thr)
7g.150949020T>ACA369855342KCNH2n.3261A>T
c.2428A>T (p.Asn810Tyr)
c.1408A>T (p.Asn470Tyr)
c.2128A>T (p.Asn710Tyr)
c.2278A>T (p.Asn760Tyr)
c.2251A>T (p.Asn751Tyr)
7g.150949020T>CCA369855344KCNH2n.3261A>G
c.2428A>G (p.Asn810Asp)
c.1408A>G (p.Asn470Asp)
c.2128A>G (p.Asn710Asp)
c.2278A>G (p.Asn760Asp)
c.2251A>G (p.Asn751Asp)
7g.150949020T>GCA369855343KCNH2n.3261A>C
c.2428A>C (p.Asn810His)
c.1408A>C (p.Asn470His)
c.2128A>C (p.Asn710His)
c.2278A>C (p.Asn760His)
c.2251A>C (p.Asn751His)
7g.150949021C>ACA458645208KCNH2n.3260G>T
c.2427G>T (p.Leu809=)
c.1407G>T (p.Leu469=)
c.2127G>T (p.Leu709=)
c.2277G>T (p.Leu759=)
c.2250G>T (p.Leu750=)
7g.150949021C>GCA458645209KCNH2n.3260G>C
c.2427G>C (p.Leu809=)
c.1407G>C (p.Leu469=)
c.2127G>C (p.Leu709=)
c.2277G>C (p.Leu759=)
c.2250G>C (p.Leu750=)
7g.150949021C>TCA458645210KCNH2n.3260G>A
c.2427G>A (p.Leu809=)
c.1407G>A (p.Leu469=)
c.2127G>A (p.Leu709=)
c.2277G>A (p.Leu759=)
c.2250G>A (p.Leu750=)
7g.150949022A>CCA369855345KCNH2n.3259T>G
c.2426T>G (p.Leu809Arg)
c.1406T>G (p.Leu469Arg)
c.2126T>G (p.Leu709Arg)
c.2276T>G (p.Leu759Arg)
c.2249T>G (p.Leu750Arg)
7g.150949022A>GCA369855346KCNH2n.3259T>C
c.2426T>C (p.Leu809Pro)
c.1406T>C (p.Leu469Pro)
c.2126T>C (p.Leu709Pro)
c.2276T>C (p.Leu759Pro)
c.2249T>C (p.Leu750Pro)
gnomAD v4
7g.150949022A>TCA369855347KCNH2n.3259T>A
c.2426T>A (p.Leu809Gln)
c.1406T>A (p.Leu469Gln)
c.2126T>A (p.Leu709Gln)
c.2276T>A (p.Leu759Gln)
c.2249T>A (p.Leu750Gln)
7g.150949023G>ACA032719KCNH2n.3258C>T
c.2425C>T (p.Leu809=)
c.1405C>T (p.Leu469=)
c.2125C>T (p.Leu709=)
c.2275C>T (p.Leu759=)
c.2248C>T (p.Leu750=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150949023G>CCA369855348KCNH2n.3258C>G
c.2425C>G (p.Leu809Val)
c.1405C>G (p.Leu469Val)
c.2125C>G (p.Leu709Val)
c.2275C>G (p.Leu759Val)
c.2248C>G (p.Leu750Val)
7g.150949023G=CA1752432076KCNH2n.3258C=
c.2425C= (p.Leu809=)
c.1405C= (p.Leu469=)
c.2125C= (p.Leu709=)
c.2275C= (p.Leu759=)
c.2248C= (p.Leu750=)
7g.150949023G>TCA369855349KCNH2n.3258C>A
c.2425C>A (p.Leu809Met)
c.1405C>A (p.Leu469Met)
c.2125C>A (p.Leu709Met)
c.2275C>A (p.Leu759Met)
c.2248C>A (p.Leu750Met)
7g.150949024A>CCA458645213KCNH2n.3257T>G
c.2424T>G (p.Pro808=)
c.1404T>G (p.Pro468=)
c.2124T>G (p.Pro708=)
c.2274T>G (p.Pro758=)
c.2247T>G (p.Pro749=)
7g.150949024A>GCA458645211KCNH2n.3257T>C
c.2424T>C (p.Pro808=)
c.1404T>C (p.Pro468=)
c.2124T>C (p.Pro708=)
c.2274T>C (p.Pro758=)
c.2247T>C (p.Pro749=)
7g.150949024A>TCA458645212KCNH2n.3257T>A
c.2424T>A (p.Pro808=)
c.1404T>A (p.Pro468=)
c.2124T>A (p.Pro708=)
c.2274T>A (p.Pro758=)
c.2247T>A (p.Pro749=)
7g.150949025G>ACA369855350KCNH2n.3256C>T
c.2423C>T (p.Pro808Leu)
c.1403C>T (p.Pro468Leu)
c.2123C>T (p.Pro708Leu)
c.2273C>T (p.Pro758Leu)
c.2246C>T (p.Pro749Leu)
7g.150949025G>CCA369855351KCNH2n.3256C>G
c.2423C>G (p.Pro808Arg)
c.1403C>G (p.Pro468Arg)
c.2123C>G (p.Pro708Arg)
c.2273C>G (p.Pro758Arg)
c.2246C>G (p.Pro749Arg)
7g.150949025G>TCA369855352KCNH2n.3256C>A
c.2423C>A (p.Pro808His)
c.1403C>A (p.Pro468His)
c.2123C>A (p.Pro708His)
c.2273C>A (p.Pro758His)
c.2246C>A (p.Pro749His)
7g.150949026G>ACA369855353KCNH2n.3255C>T
c.2422C>T (p.Pro808Ser)
c.1402C>T (p.Pro468Ser)
c.2122C>T (p.Pro708Ser)
c.2272C>T (p.Pro758Ser)
c.2245C>T (p.Pro749Ser)
7g.150949026G>CCA369855354KCNH2n.3255C>G
c.2422C>G (p.Pro808Ala)
c.1402C>G (p.Pro468Ala)
c.2122C>G (p.Pro708Ala)
c.2272C>G (p.Pro758Ala)
c.2245C>G (p.Pro749Ala)
7g.150949026G>TCA369855355KCNH2n.3255C>A
c.2422C>A (p.Pro808Thr)
c.1402C>A (p.Pro468Thr)
c.2122C>A (p.Pro708Thr)
c.2272C>A (p.Pro758Thr)
c.2245C>A (p.Pro749Thr)
7g.150949027C>ACA369855357KCNH2n.3254G>T
c.2421G>T (p.Glu807Asp)
c.1401G>T (p.Glu467Asp)
c.2121G>T (p.Glu707Asp)
c.2271G>T (p.Glu757Asp)
c.2244G>T (p.Glu748Asp)
7g.150949027C>GCA369855356KCNH2n.3254G>C
c.2421G>C (p.Glu807Asp)
c.1401G>C (p.Glu467Asp)
c.2121G>C (p.Glu707Asp)
c.2271G>C (p.Glu757Asp)
c.2244G>C (p.Glu748Asp)
7g.150949027C>TCA458645214KCNH2n.3254G>A
c.2421G>A (p.Glu807=)
c.1401G>A (p.Glu467=)
c.2121G>A (p.Glu707=)
c.2271G>A (p.Glu757=)
c.2244G>A (p.Glu748=)
7g.150949028T>ACA369855358KCNH2n.3253A>T
c.2420A>T (p.Glu807Val)
c.1400A>T (p.Glu467Val)
c.2120A>T (p.Glu707Val)
c.2270A>T (p.Glu757Val)
c.2243A>T (p.Glu748Val)
7g.150949028T>CCA369855359KCNH2n.3253A>G
c.2420A>G (p.Glu807Gly)
c.1400A>G (p.Glu467Gly)
c.2120A>G (p.Glu707Gly)
c.2270A>G (p.Glu757Gly)
c.2243A>G (p.Glu748Gly)
7g.150949028T>GCA369855360KCNH2n.3253A>C
c.2420A>C (p.Glu807Ala)
c.1400A>C (p.Glu467Ala)
c.2120A>C (p.Glu707Ala)
c.2270A>C (p.Glu757Ala)
c.2243A>C (p.Glu748Ala)
7g.150949028_150949029delinsTCCA1752432077KCNH2n.3252_3253delinsGA
c.2419_2420delinsGA (p.Glu807=)
c.1399_1400delinsGA (p.Glu467=)
c.2119_2120delinsGA (p.Glu707=)
c.2269_2270delinsGA (p.Glu757=)
c.2242_2243delinsGA (p.Glu748=)
7g.150949029C>ACA369855361KCNH2n.3252G>T
c.2419G>T (p.Glu807Ter)
c.1399G>T (p.Glu467Ter)
c.2119G>T (p.Glu707Ter)
c.2269G>T (p.Glu757Ter)
c.2242G>T (p.Glu748Ter)
7g.150949029C>GCA369855362KCNH2n.3252G>C
c.2419G>C (p.Glu807Gln)
c.1399G>C (p.Glu467Gln)
c.2119G>C (p.Glu707Gln)
c.2269G>C (p.Glu757Gln)
c.2242G>C (p.Glu748Gln)
7g.150949029C>TCA369855363KCNH2n.3252G>A
c.2419G>A (p.Glu807Lys)
c.1399G>A (p.Glu467Lys)
c.2119G>A (p.Glu707Lys)
c.2269G>A (p.Glu757Lys)
c.2242G>A (p.Glu748Lys)
ClinVar dbSNP gnomAD v4
7g.150949032dupCA2685600757KCNH2n.3252dup
c.2419dup (p.Glu807GlyfsTer23)
c.1399dup (p.Glu467GlyfsTer23)
c.2119dup (p.Glu707GlyfsTer23)
c.2269dup (p.Glu757GlyfsTer23)
c.2242dup (p.Glu748GlyfsTer23)
gnomAD v4
7g.150949032delCA006738KCNH2n.3252del
c.2419del (p.Glu807SerfsTer3)
c.1399del (p.Glu467SerfsTer3)
c.2119del (p.Glu707SerfsTer3)
c.2269del (p.Glu757SerfsTer3)
c.2242del (p.Glu748SerfsTer3)
ClinVar dbSNP
7g.150949030C>ACA458645217KCNH2n.3251G>T
c.2418G>T (p.Gly806=)
c.1398G>T (p.Gly466=)
c.2118G>T (p.Gly706=)
c.2268G>T (p.Gly756=)
c.2241G>T (p.Gly747=)
7g.150949030C>GCA458645215KCNH2n.3251G>C
c.2418G>C (p.Gly806=)
c.1398G>C (p.Gly466=)
c.2118G>C (p.Gly706=)
c.2268G>C (p.Gly756=)
c.2241G>C (p.Gly747=)
7g.150949030C>TCA458645216KCNH2n.3251G>A
c.2418G>A (p.Gly806=)
c.1398G>A (p.Gly466=)
c.2118G>A (p.Gly706=)
c.2268G>A (p.Gly756=)
c.2241G>A (p.Gly747=)
7g.150949031C>ACA369855364KCNH2n.3250G>T
c.2417G>T (p.Gly806Val)
c.1397G>T (p.Gly466Val)
c.2117G>T (p.Gly706Val)
c.2267G>T (p.Gly756Val)
c.2240G>T (p.Gly747Val)
7g.150949031C=CA1752432081KCNH2n.3250G=
c.2417G= (p.Gly806=)
c.1397G= (p.Gly466=)
c.2117G= (p.Gly706=)
c.2267G= (p.Gly756=)
c.2240G= (p.Gly747=)
7g.150949031C>GCA006729KCNH2n.3250G>C
c.2417G>C (p.Gly806Ala)
c.1397G>C (p.Gly466Ala)
c.2117G>C (p.Gly706Ala)
c.2267G>C (p.Gly756Ala)
c.2240G>C (p.Gly747Ala)
ClinVar dbSNP
7g.150949031C>TCA006718KCNH2n.3250G>A
c.2417G>A (p.Gly806Glu)
c.1397G>A (p.Gly466Glu)
c.2117G>A (p.Gly706Glu)
c.2267G>A (p.Gly756Glu)
c.2240G>A (p.Gly747Glu)
ClinVar dbSNP
7g.150949032C>ACA369855365KCNH2n.3249G>T
c.2416G>T (p.Gly806Trp)
c.1396G>T (p.Gly466Trp)
c.2116G>T (p.Gly706Trp)
c.2266G>T (p.Gly756Trp)
c.2239G>T (p.Gly747Trp)
7g.150949032C>GCA369855366KCNH2n.3249G>C
c.2416G>C (p.Gly806Arg)
c.1396G>C (p.Gly466Arg)
c.2116G>C (p.Gly706Arg)
c.2266G>C (p.Gly756Arg)
c.2239G>C (p.Gly747Arg)
7g.150949032C>TCA369855367KCNH2n.3249G>A
c.2416G>A (p.Gly806Arg)
c.1396G>A (p.Gly466Arg)
c.2116G>A (p.Gly706Arg)
c.2266G>A (p.Gly756Arg)
c.2239G>A (p.Gly747Arg)
7g.150949032_150949033delinsCACA1752432082KCNH2n.3248_3249delinsTG
c.2415_2416delinsTG (p.Phe805=)
c.1395_1396delinsTG (p.Phe465=)
c.2115_2116delinsTG (p.Phe705=)
c.2265_2266delinsTG (p.Phe755=)
c.2238_2239delinsTG (p.Phe746=)
7g.150949033A>CCA369855368KCNH2n.3248T>G
c.2415T>G (p.Phe805Leu)
c.1395T>G (p.Phe465Leu)
c.2115T>G (p.Phe705Leu)
c.2265T>G (p.Phe755Leu)
c.2238T>G (p.Phe746Leu)
7g.150949033A>GCA458645218KCNH2n.3248T>C
c.2415T>C (p.Phe805=)
c.1395T>C (p.Phe465=)
c.2115T>C (p.Phe705=)
c.2265T>C (p.Phe755=)
c.2238T>C (p.Phe746=)
7g.150949033A>TCA369855369KCNH2n.3248T>A
c.2415T>A (p.Phe805Leu)
c.1395T>A (p.Phe465Leu)
c.2115T>A (p.Phe705Leu)
c.2265T>A (p.Phe755Leu)
c.2238T>A (p.Phe746Leu)
7g.150949035delCA16618404KCNH2n.3248del
c.2415del (p.Phe805LeufsTer5)
c.1395del (p.Phe465LeufsTer5)
c.2115del (p.Phe705LeufsTer5)
c.2265del (p.Phe755LeufsTer5)
c.2238del (p.Phe746LeufsTer5)
ClinVar dbSNP gnomAD v4
7g.150949034A=CA1752432085KCNH2n.3247T=
c.2414T= (p.Phe805=)
c.1394T= (p.Phe465=)
c.2114T= (p.Phe705=)
c.2264T= (p.Phe755=)
c.2237T= (p.Phe746=)
7g.150949034A>CCA006712KCNH2n.3247T>G
c.2414T>G (p.Phe805Cys)
c.1394T>G (p.Phe465Cys)
c.2114T>G (p.Phe705Cys)
c.2264T>G (p.Phe755Cys)
c.2237T>G (p.Phe746Cys)
ClinVar dbSNP
7g.150949034A>GCA006704KCNH2n.3247T>C
c.2414T>C (p.Phe805Ser)
c.1394T>C (p.Phe465Ser)
c.2114T>C (p.Phe705Ser)
c.2264T>C (p.Phe755Ser)
c.2237T>C (p.Phe746Ser)
ClinVar dbSNP
7g.150949034A>TCA369855370KCNH2n.3247T>A
c.2414T>A (p.Phe805Tyr)
c.1394T>A (p.Phe465Tyr)
c.2114T>A (p.Phe705Tyr)
c.2264T>A (p.Phe755Tyr)
c.2237T>A (p.Phe746Tyr)
7g.150949035A>CCA369855371KCNH2n.3246T>G
c.2413T>G (p.Phe805Val)
c.1393T>G (p.Phe465Val)
c.2113T>G (p.Phe705Val)
c.2263T>G (p.Phe755Val)
c.2236T>G (p.Phe746Val)
7g.150949035A>GCA369855372KCNH2n.3246T>C
c.2413T>C (p.Phe805Leu)
c.1393T>C (p.Phe465Leu)
c.2113T>C (p.Phe705Leu)
c.2263T>C (p.Phe755Leu)
c.2236T>C (p.Phe746Leu)
7g.150949035A>TCA369855373KCNH2n.3246T>A
c.2413T>A (p.Phe805Ile)
c.1393T>A (p.Phe465Ile)
c.2113T>A (p.Phe705Ile)
c.2263T>A (p.Phe755Ile)
c.2236T>A (p.Phe746Ile)
7g.150949036G>ACA458645219KCNH2n.3245C>T
c.2412C>T (p.Ile804=)
c.1392C>T (p.Ile464=)
c.2112C>T (p.Ile704=)
c.2262C>T (p.Ile754=)
c.2235C>T (p.Ile745=)
7g.150949036G>CCA369855374KCNH2n.3245C>G
c.2412C>G (p.Ile804Met)
c.1392C>G (p.Ile464Met)
c.2112C>G (p.Ile704Met)
c.2262C>G (p.Ile754Met)
c.2235C>G (p.Ile745Met)
7g.150949036G=CA1752432090KCNH2n.3245C=
c.2412C= (p.Ile804=)
c.1392C= (p.Ile464=)
c.2112C= (p.Ile704=)
c.2262C= (p.Ile754=)
c.2235C= (p.Ile745=)
7g.150949036G>TCA032681KCNH2n.3245C>A
c.2412C>A (p.Ile804=)
c.1392C>A (p.Ile464=)
c.2112C>A (p.Ile704=)
c.2262C>A (p.Ile754=)
c.2235C>A (p.Ile745=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949037A>CCA369855375KCNH2n.3244T>G
c.2411T>G (p.Ile804Ser)
c.1391T>G (p.Ile464Ser)
c.2111T>G (p.Ile704Ser)
c.2261T>G (p.Ile754Ser)
c.2234T>G (p.Ile745Ser)
7g.150949037A>GCA369855376KCNH2n.3244T>C
c.2411T>C (p.Ile804Thr)
c.1391T>C (p.Ile464Thr)
c.2111T>C (p.Ile704Thr)
c.2261T>C (p.Ile754Thr)
c.2234T>C (p.Ile745Thr)
7g.150949037A>TCA369855377KCNH2n.3244T>A
c.2411T>A (p.Ile804Asn)
c.1391T>A (p.Ile464Asn)
c.2111T>A (p.Ile704Asn)
c.2261T>A (p.Ile754Asn)
c.2234T>A (p.Ile745Asn)
7g.150949038T>ACA369855378KCNH2n.3243A>T
c.2410A>T (p.Ile804Phe)
c.1390A>T (p.Ile464Phe)
c.2110A>T (p.Ile704Phe)
c.2260A>T (p.Ile754Phe)
c.2233A>T (p.Ile745Phe)
7g.150949038T>CCA369855379KCNH2n.3243A>G
c.2410A>G (p.Ile804Val)
c.1390A>G (p.Ile464Val)
c.2110A>G (p.Ile704Val)
c.2260A>G (p.Ile754Val)
c.2233A>G (p.Ile745Val)
ClinVar dbSNP gnomAD v4
7g.150949038T>GCA369855380KCNH2n.3243A>C
c.2410A>C (p.Ile804Leu)
c.1390A>C (p.Ile464Leu)
c.2110A>C (p.Ile704Leu)
c.2260A>C (p.Ile754Leu)
c.2233A>C (p.Ile745Leu)
7g.150949038T=CA1752432093KCNH2n.3243A=
c.2410A= (p.Ile804=)
c.1390A= (p.Ile464=)
c.2110A= (p.Ile704=)
c.2260A= (p.Ile754=)
c.2233A= (p.Ile745=)
7g.150949038_150949041delinsTGTCCA1752432094KCNH2n.3240_3243delinsGACA
c.2407_2410delinsGACA (p.Asp803=)
c.1387_1390delinsGACA (p.Asp463=)
c.2107_2110delinsGACA (p.Asp703=)
c.2257_2260delinsGACA (p.Asp753=)
c.2230_2233delinsGACA (p.Asp744=)
7g.150949039G>ACA032653KCNH2n.3242C>T
c.2409C>T (p.Asp803=)
c.1389C>T (p.Asp463=)
c.2109C>T (p.Asp703=)
c.2259C>T (p.Asp753=)
c.2232C>T (p.Asp744=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949039G>CCA369855382KCNH2n.3242C>G
c.2409C>G (p.Asp803Glu)
c.1389C>G (p.Asp463Glu)
c.2109C>G (p.Asp703Glu)
c.2259C>G (p.Asp753Glu)
c.2232C>G (p.Asp744Glu)
7g.150949039G=CA1752432097KCNH2n.3242C=
c.2409C= (p.Asp803=)
c.1389C= (p.Asp463=)
c.2109C= (p.Asp703=)
c.2259C= (p.Asp753=)
c.2232C= (p.Asp744=)
7g.150949039G>TCA369855381KCNH2n.3242C>A
c.2409C>A (p.Asp803Glu)
c.1389C>A (p.Asp463Glu)
c.2109C>A (p.Asp703Glu)
c.2259C>A (p.Asp753Glu)
c.2232C>A (p.Asp744Glu)
7g.150949039_150949041delCA916080386KCNH2n.3240_3242del
c.2407_2409del (p.Asp803del)
c.1387_1389del (p.Asp463del)
c.2107_2109del (p.Asp703del)
c.2257_2259del (p.Asp753del)
c.2230_2232del (p.Asp744del)
ClinVar dbSNP
7g.150949040T>ACA369855383KCNH2n.3241A>T
c.2408A>T (p.Asp803Val)
c.1388A>T (p.Asp463Val)
c.2108A>T (p.Asp703Val)
c.2258A>T (p.Asp753Val)
c.2231A>T (p.Asp744Val)
7g.150949040T>CCA369855384KCNH2n.3241A>G
c.2408A>G (p.Asp803Gly)
c.1388A>G (p.Asp463Gly)
c.2108A>G (p.Asp703Gly)
c.2258A>G (p.Asp753Gly)
c.2231A>G (p.Asp744Gly)
7g.150949040T>GCA369855385KCNH2n.3241A>C
c.2408A>C (p.Asp803Ala)
c.1388A>C (p.Asp463Ala)
c.2108A>C (p.Asp703Ala)
c.2258A>C (p.Asp753Ala)
c.2231A>C (p.Asp744Ala)
7g.150949041C>ACA369855386KCNH2n.3240G>T
c.2407G>T (p.Asp803Tyr)
c.1387G>T (p.Asp463Tyr)
c.2107G>T (p.Asp703Tyr)
c.2257G>T (p.Asp753Tyr)
c.2230G>T (p.Asp744Tyr)
7g.150949041C>GCA369855387KCNH2n.3240G>C
c.2407G>C (p.Asp803His)
c.1387G>C (p.Asp463His)
c.2107G>C (p.Asp703His)
c.2257G>C (p.Asp753His)
c.2230G>C (p.Asp744His)
7g.150949041C>TCA369855388KCNH2n.3240G>A
c.2407G>A (p.Asp803Asn)
c.1387G>A (p.Asp463Asn)
c.2107G>A (p.Asp703Asn)
c.2257G>A (p.Asp753Asn)
c.2230G>A (p.Asp744Asn)
COSMIC COSMIC
7g.150949042A>CCA369855389KCNH2n.3239T>G
c.2406T>G (p.Asn802Lys)
c.1386T>G (p.Asn462Lys)
c.2106T>G (p.Asn702Lys)
c.2256T>G (p.Asn752Lys)
c.2229T>G (p.Asn743Lys)
7g.150949042A>GCA458645220KCNH2n.3239T>C
c.2406T>C (p.Asn802=)
c.1386T>C (p.Asn462=)
c.2106T>C (p.Asn702=)
c.2256T>C (p.Asn752=)
c.2229T>C (p.Asn743=)
7g.150949042A>TCA369855390KCNH2n.3239T>A
c.2406T>A (p.Asn802Lys)
c.1386T>A (p.Asn462Lys)
c.2106T>A (p.Asn702Lys)
c.2256T>A (p.Asn752Lys)
c.2229T>A (p.Asn743Lys)
7g.150949043T>ACA369855391KCNH2n.3238A>T
c.2405A>T (p.Asn802Ile)
c.1385A>T (p.Asn462Ile)
c.2105A>T (p.Asn702Ile)
c.2255A>T (p.Asn752Ile)
c.2228A>T (p.Asn743Ile)
7g.150949043T>CCA337238KCNH2n.3238A>G
c.2405A>G (p.Asn802Ser)
c.1385A>G (p.Asn462Ser)
c.2105A>G (p.Asn702Ser)
c.2255A>G (p.Asn752Ser)
c.2228A>G (p.Asn743Ser)
ClinVar dbSNP gnomAD v4
7g.150949043T>GCA369855392KCNH2n.3238A>C
c.2405A>C (p.Asn802Thr)
c.1385A>C (p.Asn462Thr)
c.2105A>C (p.Asn702Thr)
c.2255A>C (p.Asn752Thr)
c.2228A>C (p.Asn743Thr)
7g.150949043T=CA1752432101KCNH2n.3238A=
c.2405A= (p.Asn802=)
c.1385A= (p.Asn462=)
c.2105A= (p.Asn702=)
c.2255A= (p.Asn752=)
c.2228A= (p.Asn743=)
7g.150949044T>ACA369855394KCNH2n.3237A>T
c.2404A>T (p.Asn802Tyr)
c.1384A>T (p.Asn462Tyr)
c.2104A>T (p.Asn702Tyr)
c.2254A>T (p.Asn752Tyr)
c.2227A>T (p.Asn743Tyr)
7g.150949044T>CCA169074939KCNH2n.3237A>G
c.2404A>G (p.Asn802Asp)
c.1384A>G (p.Asn462Asp)
c.2104A>G (p.Asn702Asp)
c.2254A>G (p.Asn752Asp)
c.2227A>G (p.Asn743Asp)
dbSNP
7g.150949044T>GCA369855393KCNH2n.3237A>C
c.2404A>C (p.Asn802His)
c.1384A>C (p.Asn462His)
c.2104A>C (p.Asn702His)
c.2254A>C (p.Asn752His)
c.2227A>C (p.Asn743His)
7g.150949044T=CA1752432105KCNH2n.3237A=
c.2404A= (p.Asn802=)
c.1384A= (p.Asn462=)
c.2104A= (p.Asn702=)
c.2254A= (p.Asn752=)
c.2227A= (p.Asn743=)
7g.150949045C>ACA369855395KCNH2n.3236G>T
c.2403G>T (p.Lys801Asn)
c.1383G>T (p.Lys461Asn)
c.2103G>T (p.Lys701Asn)
c.2253G>T (p.Lys751Asn)
c.2226G>T (p.Lys742Asn)
7g.150949045C>GCA369855396KCNH2n.3236G>C
c.2403G>C (p.Lys801Asn)
c.1383G>C (p.Lys461Asn)
c.2103G>C (p.Lys701Asn)
c.2253G>C (p.Lys751Asn)
c.2226G>C (p.Lys742Asn)
7g.150949045C>TCA458645221KCNH2n.3236G>A
c.2403G>A (p.Lys801=)
c.1383G>A (p.Lys461=)
c.2103G>A (p.Lys701=)
c.2253G>A (p.Lys751=)
c.2226G>A (p.Lys742=)
7g.150949046T>ACA369855397KCNH2n.3235A>T
c.2402A>T (p.Lys801Met)
c.1382A>T (p.Lys461Met)
c.2102A>T (p.Lys701Met)
c.2252A>T (p.Lys751Met)
c.2225A>T (p.Lys742Met)
7g.150949046T>CCA369855399KCNH2n.3235A>G
c.2402A>G (p.Lys801Arg)
c.1382A>G (p.Lys461Arg)
c.2102A>G (p.Lys701Arg)
c.2252A>G (p.Lys751Arg)
c.2225A>G (p.Lys742Arg)
7g.150949046T>GCA369855398KCNH2n.3235A>C
c.2402A>C (p.Lys801Thr)
c.1382A>C (p.Lys461Thr)
c.2102A>C (p.Lys701Thr)
c.2252A>C (p.Lys751Thr)
c.2225A>C (p.Lys742Thr)
7g.150949047T>ACA369855400KCNH2n.3234A>T
c.2401A>T (p.Lys801Ter)
c.1381A>T (p.Lys461Ter)
c.2101A>T (p.Lys701Ter)
c.2251A>T (p.Lys751Ter)
c.2224A>T (p.Lys742Ter)
7g.150949047T>CCA369855401KCNH2n.3234A>G
c.2401A>G (p.Lys801Glu)
c.1381A>G (p.Lys461Glu)
c.2101A>G (p.Lys701Glu)
c.2251A>G (p.Lys751Glu)
c.2224A>G (p.Lys742Glu)
7g.150949047T>GCA369855402KCNH2n.3234A>C
c.2401A>C (p.Lys801Gln)
c.1381A>C (p.Lys461Gln)
c.2101A>C (p.Lys701Gln)
c.2251A>C (p.Lys751Gln)
c.2224A>C (p.Lys742Gln)
7g.150949048C>ACA458645222KCNH2n.3233G>T
c.2400G>T (p.Gly800=)
c.1380G>T (p.Gly460=)
c.2100G>T (p.Gly700=)
c.2250G>T (p.Gly750=)
c.2223G>T (p.Gly741=)
7g.150949048C>GCA458645223KCNH2n.3233G>C
c.2400G>C (p.Gly800=)
c.1380G>C (p.Gly460=)
c.2100G>C (p.Gly700=)
c.2250G>C (p.Gly750=)
c.2223G>C (p.Gly741=)
7g.150949048C>TCA458645224KCNH2n.3233G>A
c.2400G>A (p.Gly800=)
c.1380G>A (p.Gly460=)
c.2100G>A (p.Gly700=)
c.2250G>A (p.Gly750=)
c.2223G>A (p.Gly741=)
7g.150949050delCA2695208830KCNH2n.3233del
c.2400del
c.1380del
c.2100del
c.2250del
c.2223del
7g.150949049C>ACA369855403KCNH2n.3232G>T
c.2399G>T (p.Gly800Val)
c.1379G>T (p.Gly460Val)
c.2099G>T (p.Gly700Val)
c.2249G>T (p.Gly750Val)
c.2222G>T (p.Gly741Val)
7g.150949049C=CA1752432106KCNH2n.3232G=
c.2399G= (p.Gly800=)
c.1379G= (p.Gly460=)
c.2099G= (p.Gly700=)
c.2249G= (p.Gly750=)
c.2222G= (p.Gly741=)
7g.150949049C>GCA369855404KCNH2n.3232G>C
c.2399G>C (p.Gly800Ala)
c.1379G>C (p.Gly460Ala)
c.2099G>C (p.Gly700Ala)
c.2249G>C (p.Gly750Ala)
c.2222G>C (p.Gly741Ala)
ClinVar
7g.150949049C>TCA006689KCNH2n.3232G>A
c.2399G>A (p.Gly800Glu)
c.1379G>A (p.Gly460Glu)
c.2099G>A (p.Gly700Glu)
c.2249G>A (p.Gly750Glu)
c.2222G>A (p.Gly741Glu)
ClinVar dbSNP
7g.150949050C>ACA369855405KCNH2n.3232-1G>T
c.2399-1G>T (n.2399-1G>T)
c.1379-1G>T (n.1379-1G>T)
c.2099-1G>T (n.2099-1G>T)
c.2249-1G>T (n.2249-1G>T)
c.2222-1G>T (n.2222-1G>T)
7g.150949050C>GCA369855406KCNH2n.3232-1G>C
c.2399-1G>C (n.2399-1G>C)
c.1379-1G>C (n.1379-1G>C)
c.2099-1G>C (n.2099-1G>C)
c.2249-1G>C (n.2249-1G>C)
c.2222-1G>C (n.2222-1G>C)
7g.150949050C>TCA369855407KCNH2n.3232-1G>A
c.2399-1G>A (n.2399-1G>A)
c.1379-1G>A (n.1379-1G>A)
c.2099-1G>A (n.2099-1G>A)
c.2249-1G>A (n.2249-1G>A)
c.2222-1G>A (n.2222-1G>A)
7g.150949051delCA2695208831KCNH2n.3232-2del
c.2399-2del (n.2399-2del)
c.1379-2del (n.1379-2del)
c.2099-2del (n.2099-2del)
c.2249-2del (n.2249-2del)
c.2222-2del (n.2222-2del)
7g.150949051T>ACA369855408KCNH2n.3232-2A>T
c.2399-2A>T (n.2399-2A>T)
c.1379-2A>T (n.1379-2A>T)
c.2099-2A>T (n.2099-2A>T)
c.2249-2A>T (n.2249-2A>T)
c.2222-2A>T (n.2222-2A>T)
7g.150949051T>CCA369855409KCNH2n.3232-2A>G
c.2399-2A>G (n.2399-2A>G)
c.1379-2A>G (n.1379-2A>G)
c.2099-2A>G (n.2099-2A>G)
c.2249-2A>G (n.2249-2A>G)
c.2222-2A>G (n.2222-2A>G)
ClinVar
7g.150949051T>GCA369855410KCNH2n.3232-2A>C
c.2399-2A>C (n.2399-2A>C)
c.1379-2A>C (n.1379-2A>C)
c.2099-2A>C (n.2099-2A>C)
c.2249-2A>C (n.2249-2A>C)
c.2222-2A>C (n.2222-2A>C)
7g.150949052G>ACA032475KCNH2n.3232-3C>T
c.2399-3C>T (n.2399-3C>T)
c.1379-3C>T (n.1379-3C>T)
c.2099-3C>T (n.2099-3C>T)
c.2249-3C>T (n.2249-3C>T)
c.2222-3C>T (n.2222-3C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949052G=CA1752432107KCNH2n.3232-3C=
c.2399-3C= (n.2399-3C=)
c.1379-3C= (n.1379-3C=)
c.2099-3C= (n.2099-3C=)
c.2249-3C= (n.2249-3C=)
c.2222-3C= (n.2222-3C=)
7g.150949053G>ACA2579062720KCNH2n.3232-4C>T
c.2399-4C>T (n.2399-4C>T)
c.1379-4C>T (n.1379-4C>T)
c.2099-4C>T (n.2099-4C>T)
c.2249-4C>T (n.2249-4C>T)
c.2222-4C>T (n.2222-4C>T)
gnomAD v4
7g.150949053G>CCA645565633KCNH2n.3232-4C>G
c.2399-4C>G (n.2399-4C>G)
c.1379-4C>G (n.1379-4C>G)
c.2099-4C>G (n.2099-4C>G)
c.2249-4C>G (n.2249-4C>G)
c.2222-4C>G (n.2222-4C>G)
COSMIC
7g.150949053G=CA1752432110KCNH2n.3232-4C=
c.2399-4C= (n.2399-4C=)
c.1379-4C= (n.1379-4C=)
c.2099-4C= (n.2099-4C=)
c.2249-4C= (n.2249-4C=)
c.2222-4C= (n.2222-4C=)
7g.150949053G>TCA032587KCNH2n.3232-4C>A
c.2399-4C>A (n.2399-4C>A)
c.1379-4C>A (n.1379-4C>A)
c.2099-4C>A (n.2099-4C>A)
c.2249-4C>A (n.2249-4C>A)
c.2222-4C>A (n.2222-4C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949054A=CA1752432113KCNH2n.3232-5T=
c.2399-5T= (n.2399-5T=)
c.1379-5T= (n.1379-5T=)
c.2099-5T= (n.2099-5T=)
c.2249-5T= (n.2249-5T=)
c.2222-5T= (n.2222-5T=)
7g.150949054A>TCA579075392KCNH2n.3232-5T>A
c.2399-5T>A (n.2399-5T>A)
c.1379-5T>A (n.1379-5T>A)
c.2099-5T>A (n.2099-5T>A)
c.2249-5T>A (n.2249-5T>A)
c.2222-5T>A (n.2222-5T>A)
dbSNP gnomAD v2 gnomAD v4
7g.150949055G>ACA032601KCNH2n.3232-6C>T
c.2399-6C>T (n.2399-6C>T)
c.1379-6C>T (n.1379-6C>T)
c.2099-6C>T (n.2099-6C>T)
c.2249-6C>T (n.2249-6C>T)
c.2222-6C>T (n.2222-6C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949055G=CA1752432115KCNH2n.3232-6C=
c.2399-6C= (n.2399-6C=)
c.1379-6C= (n.1379-6C=)
c.2099-6C= (n.2099-6C=)
c.2249-6C= (n.2249-6C=)
c.2222-6C= (n.2222-6C=)
7g.150949056G>ACA2685600758KCNH2n.3232-7C>T
c.2399-7C>T (n.2399-7C>T)
c.1379-7C>T (n.1379-7C>T)
c.2099-7C>T (n.2099-7C>T)
c.2249-7C>T (n.2249-7C>T)
c.2222-7C>T (n.2222-7C>T)
gnomAD v4
7g.150949057C>ACA2579062721KCNH2n.3232-8G>T
c.2399-8G>T (n.2399-8G>T)
c.1379-8G>T (n.1379-8G>T)
c.2099-8G>T (n.2099-8G>T)
c.2249-8G>T (n.2249-8G>T)
c.2222-8G>T (n.2222-8G>T)
gnomAD v4
7g.150949057C>TCA2573141858KCNH2n.3232-8G>A
c.2399-8G>A (n.2399-8G>A)
c.1379-8G>A (n.1379-8G>A)
c.2099-8G>A (n.2099-8G>A)
c.2249-8G>A (n.2249-8G>A)
c.2222-8G>A (n.2222-8G>A)
ClinVar dbSNP gnomAD v4
7g.150949059A=CA1752432117KCNH2n.3232-10T=
c.2399-10T= (n.2399-10T=)
c.1379-10T= (n.1379-10T=)
c.2099-10T= (n.2099-10T=)
c.2249-10T= (n.2249-10T=)
c.2222-10T= (n.2222-10T=)
7g.150949059A>GCA835224228KCNH2n.3232-10T>C
c.2399-10T>C (n.2399-10T>C)
c.1379-10T>C (n.1379-10T>C)
c.2099-10T>C (n.2099-10T>C)
c.2249-10T>C (n.2249-10T>C)
c.2222-10T>C (n.2222-10T>C)
dbSNP gnomAD v3 gnomAD v4
7g.150949060T>CCA169074965KCNH2n.3232-11A>G
c.2399-11A>G (n.2399-11A>G)
c.1379-11A>G (n.1379-11A>G)
c.2099-11A>G (n.2099-11A>G)
c.2249-11A>G (n.2249-11A>G)
c.2222-11A>G (n.2222-11A>G)
ClinVar dbSNP gnomAD v4
7g.150949060T=CA1752432119KCNH2n.3232-11A=
c.2399-11A= (n.2399-11A=)
c.1379-11A= (n.1379-11A=)
c.2099-11A= (n.2099-11A=)
c.2249-11A= (n.2249-11A=)
c.2222-11A= (n.2222-11A=)
7g.150949061G>ACA2685600759KCNH2n.3232-12C>T
c.2399-12C>T (n.2399-12C>T)
c.1379-12C>T (n.1379-12C>T)
c.2099-12C>T (n.2099-12C>T)
c.2249-12C>T (n.2249-12C>T)
c.2222-12C>T (n.2222-12C>T)
gnomAD v4
7g.150949065_150949075delCA2580077785KCNH2n.3232-22_3232-12del
c.2399-22_2399-12del (n.2399-22_2399-12del)
c.1379-22_1379-12del (n.1379-22_1379-12del)
c.2099-22_2099-12del (n.2099-22_2099-12del)
c.2249-22_2249-12del (n.2249-22_2249-12del)
c.2222-22_2222-12del (n.2222-22_2222-12del)
ClinVar
7g.150949064G>ACA835224229KCNH2n.3232-15C>T
c.2399-15C>T (n.2399-15C>T)
c.1379-15C>T (n.1379-15C>T)
c.2099-15C>T (n.2099-15C>T)
c.2249-15C>T (n.2249-15C>T)
c.2222-15C>T (n.2222-15C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150949064G>CCA2573141859KCNH2n.3232-15C>G
c.2399-15C>G (n.2399-15C>G)
c.1379-15C>G (n.1379-15C>G)
c.2099-15C>G (n.2099-15C>G)
c.2249-15C>G (n.2249-15C>G)
c.2222-15C>G (n.2222-15C>G)
ClinVar dbSNP gnomAD v4
7g.150949064G=CA1752432120KCNH2n.3232-15C=
c.2399-15C= (n.2399-15C=)
c.1379-15C= (n.1379-15C=)
c.2099-15C= (n.2099-15C=)
c.2249-15C= (n.2249-15C=)
c.2222-15C= (n.2222-15C=)
7g.150949066G>ACA1108705232KCNH2n.3232-17C>T
c.2399-17C>T (n.2399-17C>T)
c.1379-17C>T (n.1379-17C>T)
c.2099-17C>T (n.2099-17C>T)
c.2249-17C>T (n.2249-17C>T)
c.2222-17C>T (n.2222-17C>T)
dbSNP gnomAD v3 gnomAD v4
7g.150949066G=CA1752432122KCNH2n.3232-17C=
c.2399-17C= (n.2399-17C=)
c.1379-17C= (n.1379-17C=)
c.2099-17C= (n.2099-17C=)
c.2249-17C= (n.2249-17C=)
c.2222-17C= (n.2222-17C=)
7g.150949067G>ACA1108705234KCNH2n.3232-18C>T
c.2399-18C>T (n.2399-18C>T)
c.1379-18C>T (n.1379-18C>T)
c.2099-18C>T (n.2099-18C>T)
c.2249-18C>T (n.2249-18C>T)
c.2222-18C>T (n.2222-18C>T)
dbSNP gnomAD v3 gnomAD v4
7g.150949067G=CA1752432123KCNH2n.3232-18C=
c.2399-18C= (n.2399-18C=)
c.1379-18C= (n.1379-18C=)
c.2099-18C= (n.2099-18C=)
c.2249-18C= (n.2249-18C=)
c.2222-18C= (n.2222-18C=)
7g.150949068A>TCA2685600760KCNH2n.3232-19T>A
c.2399-19T>A (n.2399-19T>A)
c.1379-19T>A (n.1379-19T>A)
c.2099-19T>A (n.2099-19T>A)
c.2249-19T>A (n.2249-19T>A)
c.2222-19T>A (n.2222-19T>A)
gnomAD v4
7g.150949069C=CA1752432124KCNH2n.3232-20G=
c.2399-20G= (n.2399-20G=)
c.1379-20G= (n.1379-20G=)
c.2099-20G= (n.2099-20G=)
c.2249-20G= (n.2249-20G=)
c.2222-20G= (n.2222-20G=)
7g.150949069C>TCA1752432126KCNH2n.3232-20G>A
c.2399-20G>A (n.2399-20G>A)
c.1379-20G>A (n.1379-20G>A)
c.2099-20G>A (n.2099-20G>A)
c.2249-20G>A (n.2249-20G>A)
c.2222-20G>A (n.2222-20G>A)
dbSNP
7g.150949071G>ACA2685600761KCNH2n.3232-22C>T
c.2399-22C>T (n.2399-22C>T)
c.1379-22C>T (n.1379-22C>T)
c.2099-22C>T (n.2099-22C>T)
c.2249-22C>T (n.2249-22C>T)
c.2222-22C>T (n.2222-22C>T)
gnomAD v4
7g.150949071G>CCA2685600762KCNH2n.3232-22C>G
c.2399-22C>G (n.2399-22C>G)
c.1379-22C>G (n.1379-22C>G)
c.2099-22C>G (n.2099-22C>G)
c.2249-22C>G (n.2249-22C>G)
c.2222-22C>G (n.2222-22C>G)
gnomAD v4
7g.150949072G>ACA579075393KCNH2n.3232-23C>T
c.2399-23C>T (n.2399-23C>T)
c.1379-23C>T (n.1379-23C>T)
c.2099-23C>T (n.2099-23C>T)
c.2249-23C>T (n.2249-23C>T)
c.2222-23C>T (n.2222-23C>T)
dbSNP gnomAD v2 gnomAD v4
7g.150949072G=CA1752432128KCNH2n.3232-23C=
c.2399-23C= (n.2399-23C=)
c.1379-23C= (n.1379-23C=)
c.2099-23C= (n.2099-23C=)
c.2249-23C= (n.2249-23C=)
c.2222-23C= (n.2222-23C=)
7g.150949073G>ACA032396KCNH2n.3232-24C>T
c.2399-24C>T (n.2399-24C>T)
c.1379-24C>T (n.1379-24C>T)
c.2099-24C>T (n.2099-24C>T)
c.2249-24C>T (n.2249-24C>T)
c.2222-24C>T (n.2222-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150949073G=CA1752432129KCNH2n.3232-24C=
c.2399-24C= (n.2399-24C=)
c.1379-24C= (n.1379-24C=)
c.2099-24C= (n.2099-24C=)
c.2249-24C= (n.2249-24C=)
c.2222-24C= (n.2222-24C=)
7g.150949075G>TCA652282674KCNH2n.3232-26C>A
c.2399-26C>A (n.2399-26C>A)
c.1379-26C>A (n.1379-26C>A)
c.2099-26C>A (n.2099-26C>A)
c.2249-26C>A (n.2249-26C>A)
c.2222-26C>A (n.2222-26C>A)
gnomAD v4 COSMIC
7g.150949077delCA2499218795KCNH2n.3232-28del
c.2399-28del (n.2399-28del)
c.1379-28del (n.1379-28del)
c.2099-28del (n.2099-28del)
c.2249-28del (n.2249-28del)
c.2222-28del (n.2222-28del)
ClinVar dbSNP
7g.150949077T>ACA2573141860KCNH2n.3232-28A>T
c.2399-28A>T (n.2399-28A>T)
c.1379-28A>T (n.1379-28A>T)
c.2099-28A>T (n.2099-28A>T)
c.2249-28A>T (n.2249-28A>T)
c.2222-28A>T (n.2222-28A>T)
ClinVar dbSNP
7g.150949077T>CCA658820660KCNH2n.3232-28A>G
c.2399-28A>G (n.2399-28A>G)
c.1379-28A>G (n.1379-28A>G)
c.2099-28A>G (n.2099-28A>G)
c.2249-28A>G (n.2249-28A>G)
c.2222-28A>G (n.2222-28A>G)
7g.150949079_150949097delCA2579062728KCNH2n.3232-46_3232-28del
c.2399-46_2399-28del (n.2399-46_2399-28del)
c.1379-46_1379-28del (n.1379-46_1379-28del)
c.2099-46_2099-28del (n.2099-46_2099-28del)
c.2249-46_2249-28del (n.2249-46_2249-28del)
c.2222-46_2222-28del (n.2222-46_2222-28del)
7g.150949078C>ACA2579062731KCNH2n.3232-29G>T
c.2399-29G>T (n.2399-29G>T)
c.1379-29G>T (n.1379-29G>T)
c.2099-29G>T (n.2099-29G>T)
c.2249-29G>T (n.2249-29G>T)
c.2222-29G>T (n.2222-29G>T)
7g.150949078C>TCA2579062732KCNH2n.3232-29G>A
c.2399-29G>A (n.2399-29G>A)
c.1379-29G>A (n.1379-29G>A)
c.2099-29G>A (n.2099-29G>A)
c.2249-29G>A (n.2249-29G>A)
c.2222-29G>A (n.2222-29G>A)
7g.150949080G>ACA1108705237KCNH2n.3232-31C>T
c.2399-31C>T (n.2399-31C>T)
c.1379-31C>T (n.1379-31C>T)
c.2099-31C>T (n.2099-31C>T)
c.2249-31C>T (n.2249-31C>T)
c.2222-31C>T (n.2222-31C>T)
dbSNP gnomAD v3 gnomAD v4
7g.150949080G=CA1752432130KCNH2n.3232-31C=
c.2399-31C= (n.2399-31C=)
c.1379-31C= (n.1379-31C=)
c.2099-31C= (n.2099-31C=)
c.2249-31C= (n.2249-31C=)
c.2222-31C= (n.2222-31C=)
7g.150949080G>TCA2685600763KCNH2n.3232-31C>A
c.2399-31C>A (n.2399-31C>A)
c.1379-31C>A (n.1379-31C>A)
c.2099-31C>A (n.2099-31C>A)
c.2249-31C>A (n.2249-31C>A)
c.2222-31C>A (n.2222-31C>A)
gnomAD v4
7g.150949081C>ACA579075394KCNH2n.3232-32G>T
c.2399-32G>T (n.2399-32G>T)
c.1379-32G>T (n.1379-32G>T)
c.2099-32G>T (n.2099-32G>T)
c.2249-32G>T (n.2249-32G>T)
c.2222-32G>T (n.2222-32G>T)
dbSNP gnomAD v2 gnomAD v4
7g.150949081C=CA1752432131KCNH2n.3232-32G=
c.2399-32G= (n.2399-32G=)
c.1379-32G= (n.1379-32G=)
c.2099-32G= (n.2099-32G=)
c.2249-32G= (n.2249-32G=)
c.2222-32G= (n.2222-32G=)
7g.150949081C>TCA2685600764KCNH2n.3232-32G>A
c.2399-32G>A (n.2399-32G>A)
c.1379-32G>A (n.1379-32G>A)
c.2099-32G>A (n.2099-32G>A)
c.2249-32G>A (n.2249-32G>A)
c.2222-32G>A (n.2222-32G>A)
gnomAD v4

Number of alleles fetched