Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958255_150958265del | CA2685607947 | KCNH2 | n.1545_1555del c.712_722del (p.Gly238ProfsTer?) c.364_374del (p.Gly122ProfsTer?) n.935_945del c.412_422del (p.Gly138ProfsTer?) c.562_572del (p.Gly188ProfsTer?) c.535_545del (p.Gly179ProfsTer?) | gnomAD v4 |
7 | g.150958263C>A | CA369862746 | KCNH2 | n.1545G>T c.712G>T (p.Gly238Cys) c.364G>T (p.Gly122Cys) n.935G>T c.412G>T (p.Gly138Cys) c.562G>T (p.Gly188Cys) c.535G>T (p.Gly179Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.150958263C= | CA1752418240 | KCNH2 | n.1545G= c.712G= (p.Gly238=) c.364G= (p.Gly122=) n.935G= c.412G= (p.Gly138=) c.562G= (p.Gly188=) c.535G= (p.Gly179=) | |
7 | g.150958263C>G | CA369862744 | KCNH2 | n.1545G>C c.712G>C (p.Gly238Arg) c.364G>C (p.Gly122Arg) n.935G>C c.412G>C (p.Gly138Arg) c.562G>C (p.Gly188Arg) c.535G>C (p.Gly179Arg) | gnomAD v4 |
7 | g.150958263C>T | CA008696 | KCNH2 | n.1545G>A c.712G>A (p.Gly238Ser) c.364G>A (p.Gly122Ser) n.935G>A c.412G>A (p.Gly138Ser) c.562G>A (p.Gly188Ser) c.535G>A (p.Gly179Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958264G>A | CA040273 | KCNH2 | n.1544C>T c.711C>T (p.Pro237=) c.363C>T (p.Pro121=) n.934C>T c.411C>T (p.Pro137=) c.561C>T (p.Pro187=) c.534C>T (p.Pro178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150958264G>C | CA458872203 | KCNH2 | n.1544C>G c.711C>G (p.Pro237=) c.363C>G (p.Pro121=) n.934C>G c.411C>G (p.Pro137=) c.561C>G (p.Pro187=) c.534C>G (p.Pro178=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958264G= | CA1752418243 | KCNH2 | n.1544C= c.711C= (p.Pro237=) c.363C= (p.Pro121=) n.934C= c.411C= (p.Pro137=) c.561C= (p.Pro187=) c.534C= (p.Pro178=) | |
7 | g.150958264G>T | CA458872205 | KCNH2 | n.1544C>A c.711C>A (p.Pro237=) c.363C>A (p.Pro121=) n.934C>A c.411C>A (p.Pro137=) c.561C>A (p.Pro187=) c.534C>A (p.Pro178=) | gnomAD v4 |
7 | g.150958266del | CA2685608021 | KCNH2 | n.1544del c.711del (p.Gly238AlafsTer?) c.363del (p.Gly122AlafsTer?) n.934del c.411del (p.Gly138AlafsTer?) c.561del (p.Gly188AlafsTer?) c.534del (p.Gly179AlafsTer?) | gnomAD v4 |
7 | g.150958265_150958266del | CA2685608028 | KCNH2 | n.1543_1544del c.710_711del (p.Pro237ArgfsTer?) c.362_363del (p.Pro121ArgfsTer?) n.933_934del c.410_411del (p.Pro137ArgfsTer?) c.560_561del (p.Pro187ArgfsTer?) c.533_534del (p.Pro178ArgfsTer?) | gnomAD v4 |
7 | g.150958265G>A | CA369862749 | KCNH2 | n.1543C>T c.710C>T (p.Pro237Leu) c.362C>T (p.Pro121Leu) n.933C>T c.410C>T (p.Pro137Leu) c.560C>T (p.Pro187Leu) c.533C>T (p.Pro178Leu) | gnomAD v4 |
7 | g.150958265G>C | CA369862751 | KCNH2 | n.1543C>G c.710C>G (p.Pro237Arg) c.362C>G (p.Pro121Arg) n.933C>G c.410C>G (p.Pro137Arg) c.560C>G (p.Pro187Arg) c.533C>G (p.Pro178Arg) | |
7 | g.150958265G= | CA1752418246 | KCNH2 | n.1543C= c.710C= (p.Pro237=) c.362C= (p.Pro121=) n.933C= c.410C= (p.Pro137=) c.560C= (p.Pro187=) c.533C= (p.Pro178=) | |
7 | g.150958265G>T | CA369862753 | KCNH2 | n.1543C>A c.710C>A (p.Pro237His) c.362C>A (p.Pro121His) n.933C>A c.410C>A (p.Pro137His) c.560C>A (p.Pro187His) c.533C>A (p.Pro178His) | ClinVar dbSNP gnomAD v4 |
7 | g.150958266G>A | CA369862754 | KCNH2 | n.1542C>T c.709C>T (p.Pro237Ser) c.361C>T (p.Pro121Ser) n.932C>T c.409C>T (p.Pro137Ser) c.559C>T (p.Pro187Ser) c.532C>T (p.Pro178Ser) | gnomAD v4 |
7 | g.150958266G>C | CA369862756 | KCNH2 | n.1542C>G c.709C>G (p.Pro237Ala) c.361C>G (p.Pro121Ala) n.932C>G c.409C>G (p.Pro137Ala) c.559C>G (p.Pro187Ala) c.532C>G (p.Pro178Ala) | gnomAD v4 |
7 | g.150958266G>T | CA369862758 | KCNH2 | n.1542C>A c.709C>A (p.Pro237Thr) c.361C>A (p.Pro121Thr) n.932C>A c.409C>A (p.Pro137Thr) c.559C>A (p.Pro187Thr) c.532C>A (p.Pro178Thr) | gnomAD v4 |
7 | g.150958266_150958268delinsGAC | CA1752418249 | KCNH2 | n.1540_1542delinsGTC c.707_709delinsGTC (p.Gly236=) c.359_361delinsGTC (p.Gly120=) n.930_932delinsGTC c.407_409delinsGTC (p.Gly136=) c.557_559delinsGTC (p.Gly186=) c.530_532delinsGTC (p.Gly177=) | |
7 | g.150958267A>C | CA458872210 | KCNH2 | n.1541T>G c.708T>G (p.Gly236=) c.360T>G (p.Gly120=) n.931T>G c.408T>G (p.Gly136=) c.558T>G (p.Gly186=) c.531T>G (p.Gly177=) | gnomAD v4 |
7 | g.150958267A>G | CA458872212 | KCNH2 | n.1541T>C c.708T>C (p.Gly236=) c.360T>C (p.Gly120=) n.931T>C c.408T>C (p.Gly136=) c.558T>C (p.Gly186=) c.531T>C (p.Gly177=) | gnomAD v4 |
7 | g.150958267A>T | CA458872211 | KCNH2 | n.1541T>A c.708T>A (p.Gly236=) c.360T>A (p.Gly120=) n.931T>A c.408T>A (p.Gly136=) c.558T>A (p.Gly186=) c.531T>A (p.Gly177=) | |
7 | g.150958267_150958268del | CA1139660322 | KCNH2 | n.1540_1541del c.707_708del (p.Gly236AlafsTer?) c.359_360del (p.Gly120AlafsTer?) n.930_931del c.407_408del (p.Gly136AlafsTer?) c.557_558del (p.Gly186AlafsTer?) c.530_531del (p.Gly177AlafsTer?) | ClinVar dbSNP |
7 | g.150958268C>A | CA008689 | KCNH2 | n.1540G>T c.707G>T (p.Gly236Val) c.359G>T (p.Gly120Val) n.930G>T c.407G>T (p.Gly136Val) c.557G>T (p.Gly186Val) c.530G>T (p.Gly177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958268C= | CA1752418260 | KCNH2 | n.1540G= c.707G= (p.Gly236=) c.359G= (p.Gly120=) n.930G= c.407G= (p.Gly136=) c.557G= (p.Gly186=) c.530G= (p.Gly177=) | |
7 | g.150958268C>G | CA369862761 | KCNH2 | n.1540G>C c.707G>C (p.Gly236Ala) c.359G>C (p.Gly120Ala) n.930G>C c.407G>C (p.Gly136Ala) c.557G>C (p.Gly186Ala) c.530G>C (p.Gly177Ala) | |
7 | g.150958268C>T | CA369862763 | KCNH2 | n.1540G>A c.707G>A (p.Gly236Asp) c.359G>A (p.Gly120Asp) n.930G>A c.407G>A (p.Gly136Asp) c.557G>A (p.Gly186Asp) c.530G>A (p.Gly177Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.150958270del | CA2579062963 | KCNH2 | n.1540del c.707del (p.Gly236ValfsTer?) c.359del (p.Gly120ValfsTer?) n.930del c.407del (p.Gly136ValfsTer?) c.557del (p.Gly186ValfsTer?) c.530del (p.Gly177ValfsTer?) | gnomAD v4 |
7 | g.150958269C>A | CA369862765 | KCNH2 | n.1539G>T c.706G>T (p.Gly236Cys) c.358G>T (p.Gly120Cys) n.929G>T c.406G>T (p.Gly136Cys) c.556G>T (p.Gly186Cys) c.529G>T (p.Gly177Cys) | gnomAD v4 |
7 | g.150958269C>G | CA369862767 | KCNH2 | n.1539G>C c.706G>C (p.Gly236Arg) c.358G>C (p.Gly120Arg) n.929G>C c.406G>C (p.Gly136Arg) c.556G>C (p.Gly186Arg) c.529G>C (p.Gly177Arg) | |
7 | g.150958269C>T | CA369862769 | KCNH2 | n.1539G>A c.706G>A (p.Gly236Ser) c.358G>A (p.Gly120Ser) n.929G>A c.406G>A (p.Gly136Ser) c.556G>A (p.Gly186Ser) c.529G>A (p.Gly177Ser) | gnomAD v4 |
7 | g.150958270C>A | CA458872216 | KCNH2 | n.1538G>T c.705G>T (p.Val235=) c.357G>T (p.Val119=) n.928G>T c.405G>T (p.Val135=) c.555G>T (p.Val185=) c.528G>T (p.Val176=) | gnomAD v4 |
7 | g.150958270C= | CA1752418262 | KCNH2 | n.1538G= c.705G= (p.Val235=) c.357G= (p.Val119=) n.928G= c.405G= (p.Val135=) c.555G= (p.Val185=) c.528G= (p.Val176=) | |
7 | g.150958270C>G | CA458872217 | KCNH2 | n.1538G>C c.705G>C (p.Val235=) c.357G>C (p.Val119=) n.928G>C c.405G>C (p.Val135=) c.555G>C (p.Val185=) c.528G>C (p.Val176=) | |
7 | g.150958270C>T | CA458872220 | KCNH2 | n.1538G>A c.705G>A (p.Val235=) c.357G>A (p.Val119=) n.928G>A c.405G>A (p.Val135=) c.555G>A (p.Val185=) c.528G>A (p.Val176=) | dbSNP gnomAD v4 |
7 | g.150958271A= | CA1752418266 | KCNH2 | n.1537T= c.704T= (p.Val235=) c.356T= (p.Val119=) n.927T= c.404T= (p.Val135=) c.554T= (p.Val185=) c.527T= (p.Val176=) | |
7 | g.150958271A>C | CA369862772 | KCNH2 | n.1537T>G c.704T>G (p.Val235Gly) c.356T>G (p.Val119Gly) n.927T>G c.404T>G (p.Val135Gly) c.554T>G (p.Val185Gly) c.527T>G (p.Val176Gly) | |
7 | g.150958271A>G | CA369862774 | KCNH2 | n.1537T>C c.704T>C (p.Val235Ala) c.356T>C (p.Val119Ala) n.927T>C c.404T>C (p.Val135Ala) c.554T>C (p.Val185Ala) c.527T>C (p.Val176Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.150958271A>T | CA369862771 | KCNH2 | n.1537T>A c.704T>A (p.Val235Glu) c.356T>A (p.Val119Glu) n.927T>A c.404T>A (p.Val135Glu) c.554T>A (p.Val185Glu) c.527T>A (p.Val176Glu) | |
7 | g.150958272C>A | CA369862776 | KCNH2 | n.1536G>T c.703G>T (p.Val235Leu) c.355G>T (p.Val119Leu) n.926G>T c.403G>T (p.Val135Leu) c.553G>T (p.Val185Leu) c.526G>T (p.Val176Leu) | gnomAD v4 |
7 | g.150958272C>G | CA072022 | KCNH2 | n.1536G>C c.703G>C (p.Val235Leu) c.355G>C (p.Val119Leu) n.926G>C c.403G>C (p.Val135Leu) c.553G>C (p.Val185Leu) c.526G>C (p.Val176Leu) | |
7 | g.150958272C>T | CA369862778 | KCNH2 | n.1536G>A c.703G>A (p.Val235Met) c.355G>A (p.Val119Met) n.926G>A c.403G>A (p.Val135Met) c.553G>A (p.Val185Met) c.526G>A (p.Val176Met) | gnomAD v4 |
7 | g.150958273del | CA2685608085 | KCNH2 | n.1536del c.703del (p.Val235TrpfsTer?) c.355del (p.Val119TrpfsTer?) n.926del c.403del (p.Val135TrpfsTer?) c.553del (p.Val185TrpfsTer?) c.526del (p.Val176TrpfsTer?) | gnomAD v4 |
7 | g.150958273C>A | CA458872228 | KCNH2 | n.1535G>T c.702G>T (p.Leu234=) c.354G>T (p.Leu118=) n.925G>T c.402G>T (p.Leu134=) c.552G>T (p.Leu184=) c.525G>T (p.Leu175=) | gnomAD v4 |
7 | g.150958273C= | CA1752418269 | KCNH2 | n.1535G= c.702G= (p.Leu234=) c.354G= (p.Leu118=) n.925G= c.402G= (p.Leu134=) c.552G= (p.Leu184=) c.525G= (p.Leu175=) | |
7 | g.150958273C>G | CA169081306 | KCNH2 | n.1535G>C c.702G>C (p.Leu234=) c.354G>C (p.Leu118=) n.925G>C c.402G>C (p.Leu134=) c.552G>C (p.Leu184=) c.525G>C (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958273C>T | CA458872229 | KCNH2 | n.1535G>A c.702G>A (p.Leu234=) c.354G>A (p.Leu118=) n.925G>A c.402G>A (p.Leu134=) c.552G>A (p.Leu184=) c.525G>A (p.Leu175=) | gnomAD v4 |
7 | g.150958274A>C | CA369862780 | KCNH2 | n.1534T>G c.701T>G (p.Leu234Arg) c.353T>G (p.Leu118Arg) n.924T>G c.401T>G (p.Leu134Arg) c.551T>G (p.Leu184Arg) c.524T>G (p.Leu175Arg) | |
7 | g.150958274A>G | CA369862782 | KCNH2 | n.1534T>C c.701T>C (p.Leu234Pro) c.353T>C (p.Leu118Pro) n.924T>C c.401T>C (p.Leu134Pro) c.551T>C (p.Leu184Pro) c.524T>C (p.Leu175Pro) | gnomAD v4 |
7 | g.150958274A>T | CA369862784 | KCNH2 | n.1534T>A c.701T>A (p.Leu234Gln) c.353T>A (p.Leu118Gln) n.924T>A c.401T>A (p.Leu134Gln) c.551T>A (p.Leu184Gln) c.524T>A (p.Leu175Gln) |