Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958121_150958206delinsACGCCTCGGGCTC | CA2697549692 | KCNH2 | n.1602_1687delinsGAGCCCGAGGCGT c.769_854delinsGAGCCCGAGGCGT (p.Asn257GlufsTer?) c.421_506delinsGAGCCCGAGGCGT (p.Asn141GlufsTer?) n.992_1077delinsGAGCCCGAGGCGT c.469_554delinsGAGCCCGAGGCGT (p.Asn157GlufsTer?) c.619_704delinsGAGCCCGAGGCGT (p.Asn207GlufsTer?) c.592_677delinsGAGCCCGAGGCGT (p.Asn198GlufsTer?) | ClinVar |
7 | g.150958188_150958203del | CA2573052838 | KCNH2 | n.1607_1622del c.774_789del (p.Asp259AlafsTer?) c.426_441del (p.Asp143AlafsTer?) n.997_1012del c.474_489del (p.Asp159AlafsTer?) c.624_639del (p.Asp209AlafsTer?) c.597_612del (p.Asp200AlafsTer?) | ClinVar dbSNP |
7 | g.150958189G>A | CA458871980 | KCNH2 | n.1619C>T c.786C>T (p.Gly262=) c.438C>T (p.Gly146=) n.1009C>T c.486C>T (p.Gly162=) c.636C>T (p.Gly212=) c.609C>T (p.Gly203=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958189G>C | CA458871983 | KCNH2 | n.1619C>G c.786C>G (p.Gly262=) c.438C>G (p.Gly146=) n.1009C>G c.486C>G (p.Gly162=) c.636C>G (p.Gly212=) c.609C>G (p.Gly203=) | gnomAD v4 |
7 | g.150958189G= | CA1752418041 | KCNH2 | n.1619C= c.786C= (p.Gly262=) c.438C= (p.Gly146=) n.1009C= c.486C= (p.Gly162=) c.636C= (p.Gly212=) c.609C= (p.Gly203=) | |
7 | g.150958189G>T | CA040657 | KCNH2 | n.1619C>A c.786C>A (p.Gly262=) c.438C>A (p.Gly146=) n.1009C>A c.486C>A (p.Gly162=) c.636C>A (p.Gly212=) c.609C>A (p.Gly203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958190C>A | CA369862497 | KCNH2 | n.1618G>T c.785G>T (p.Gly262Val) c.437G>T (p.Gly146Val) n.1008G>T c.485G>T (p.Gly162Val) c.635G>T (p.Gly212Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
7 | g.150958190C>G | CA369862498 | KCNH2 | n.1618G>C c.785G>C (p.Gly262Ala) c.437G>C (p.Gly146Ala) n.1008G>C c.485G>C (p.Gly162Ala) c.635G>C (p.Gly212Ala) c.608G>C (p.Gly203Ala) | |
7 | g.150958190C>T | CA369862500 | KCNH2 | n.1618G>A c.785G>A (p.Gly262Asp) c.437G>A (p.Gly146Asp) n.1008G>A c.485G>A (p.Gly162Asp) c.635G>A (p.Gly212Asp) c.608G>A (p.Gly203Asp) | gnomAD v4 |
7 | g.150958192del | CA2685607606 | KCNH2 | n.1618del c.785del (p.Gly262AlafsTer?) c.437del (p.Gly146AlafsTer?) n.1008del c.485del (p.Gly162AlafsTer?) c.635del (p.Gly212AlafsTer?) c.608del (p.Gly203AlafsTer?) | gnomAD v4 |
7 | g.150958191C>A | CA369862502 | KCNH2 | n.1617G>T c.784G>T (p.Gly262Cys) c.436G>T (p.Gly146Cys) n.1007G>T c.484G>T (p.Gly162Cys) c.634G>T (p.Gly212Cys) c.607G>T (p.Gly203Cys) | gnomAD v4 |
7 | g.150958191C>G | CA369862503 | KCNH2 | n.1617G>C c.784G>C (p.Gly262Arg) c.436G>C (p.Gly146Arg) n.1007G>C c.484G>C (p.Gly162Arg) c.634G>C (p.Gly212Arg) c.607G>C (p.Gly203Arg) | gnomAD v4 |
7 | g.150958191C>T | CA369862504 | KCNH2 | n.1617G>A c.784G>A (p.Gly262Ser) c.436G>A (p.Gly146Ser) n.1007G>A c.484G>A (p.Gly162Ser) c.634G>A (p.Gly212Ser) c.607G>A (p.Gly203Ser) | gnomAD v4 |
7 | g.150958192C>A | CA458871989 | KCNH2 | n.1616G>T c.783G>T (p.Ser261=) c.435G>T (p.Ser145=) n.1006G>T c.483G>T (p.Ser161=) c.633G>T (p.Ser211=) c.606G>T (p.Ser202=) | gnomAD v4 |
7 | g.150958192C= | CA1752418045 | KCNH2 | n.1616G= c.783G= (p.Ser261=) c.435G= (p.Ser145=) n.1006G= c.483G= (p.Ser161=) c.633G= (p.Ser211=) c.606G= (p.Ser202=) | |
7 | g.150958192C>G | CA458871990 | KCNH2 | n.1616G>C c.783G>C (p.Ser261=) c.435G>C (p.Ser145=) n.1006G>C c.483G>C (p.Ser161=) c.633G>C (p.Ser211=) c.606G>C (p.Ser202=) | gnomAD v4 |
7 | g.150958192C>T | CA040641 | KCNH2 | n.1616G>A c.783G>A (p.Ser261=) c.435G>A (p.Ser145=) n.1006G>A c.483G>A (p.Ser161=) c.633G>A (p.Ser211=) c.606G>A (p.Ser202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150958193G>A | CA369862507 | KCNH2 | n.1615C>T c.782C>T (p.Ser261Leu) c.434C>T (p.Ser145Leu) n.1005C>T c.482C>T (p.Ser161Leu) c.632C>T (p.Ser211Leu) c.605C>T (p.Ser202Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958193G>C | CA369862508 | KCNH2 | n.1615C>G c.782C>G (p.Ser261Trp) c.434C>G (p.Ser145Trp) n.1005C>G c.482C>G (p.Ser161Trp) c.632C>G (p.Ser211Trp) c.605C>G (p.Ser202Trp) | gnomAD v4 |
7 | g.150958193G= | CA1752418050 | KCNH2 | n.1615C= c.782C= (p.Ser261=) c.434C= (p.Ser145=) n.1005C= c.482C= (p.Ser161=) c.632C= (p.Ser211=) c.605C= (p.Ser202=) | |
7 | g.150958193G>T | CA369862510 | KCNH2 | n.1615C>A c.782C>A (p.Ser261Ter) c.434C>A (p.Ser145Ter) n.1005C>A c.482C>A (p.Ser161Ter) c.632C>A (p.Ser211Ter) c.605C>A (p.Ser202Ter) | gnomAD v4 |
7 | g.150958194A>C | CA369862514 | KCNH2 | n.1614T>G c.781T>G (p.Ser261Ala) c.433T>G (p.Ser145Ala) n.1004T>G c.481T>G (p.Ser161Ala) c.631T>G (p.Ser211Ala) c.604T>G (p.Ser202Ala) | |
7 | g.150958194A>G | CA369862516 | KCNH2 | n.1614T>C c.781T>C (p.Ser261Pro) c.433T>C (p.Ser145Pro) n.1004T>C c.481T>C (p.Ser161Pro) c.631T>C (p.Ser211Pro) c.604T>C (p.Ser202Pro) | gnomAD v4 |
7 | g.150958194A>T | CA369862512 | KCNH2 | n.1614T>A c.781T>A (p.Ser261Thr) c.433T>A (p.Ser145Thr) n.1004T>A c.481T>A (p.Ser161Thr) c.631T>A (p.Ser211Thr) c.604T>A (p.Ser202Thr) | gnomAD v4 |
7 | g.150958194_150958201delinsAGGCGTCG | CA1752418054 | KCNH2 | n.1607_1614delinsCGACGCCT c.774_781delinsCGACGCCT (p.Pro258=) c.426_433delinsCGACGCCT (p.Pro142=) n.997_1004delinsCGACGCCT c.474_481delinsCGACGCCT (p.Pro158=) c.624_631delinsCGACGCCT (p.Pro208=) c.597_604delinsCGACGCCT (p.Pro199=) | |
7 | g.150958195G>A | CA072095 | KCNH2 | n.1613C>T c.780C>T (p.Ala260=) c.432C>T (p.Ala144=) n.1003C>T c.480C>T (p.Ala160=) c.630C>T (p.Ala210=) c.603C>T (p.Ala201=) | gnomAD v4 |
7 | g.150958195G>C | CA458872002 | KCNH2 | n.1613C>G c.780C>G (p.Ala260=) c.432C>G (p.Ala144=) n.1003C>G c.480C>G (p.Ala160=) c.630C>G (p.Ala210=) c.603C>G (p.Ala201=) | |
7 | g.150958195G>T | CA458872003 | KCNH2 | n.1613C>A c.780C>A (p.Ala260=) c.432C>A (p.Ala144=) n.1003C>A c.480C>A (p.Ala160=) c.630C>A (p.Ala210=) c.603C>A (p.Ala201=) | gnomAD v4 |
7 | g.150958197_150958203del | CA916080379 | KCNH2 | n.1607_1613del c.774_780del (p.Asp259ArgfsTer?) c.426_432del (p.Asp143ArgfsTer?) n.997_1003del c.474_480del (p.Asp159ArgfsTer?) c.624_630del (p.Asp209ArgfsTer?) c.597_603del (p.Asp200ArgfsTer?) | ClinVar dbSNP |
7 | g.150958196G>A | CA369862519 | KCNH2 | n.1612C>T c.779C>T (p.Ala260Val) c.431C>T (p.Ala144Val) n.1002C>T c.479C>T (p.Ala160Val) c.629C>T (p.Ala210Val) c.602C>T (p.Ala201Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958196G>C | CA369862521 | KCNH2 | n.1612C>G c.779C>G (p.Ala260Gly) c.431C>G (p.Ala144Gly) n.1002C>G c.479C>G (p.Ala160Gly) c.629C>G (p.Ala210Gly) c.602C>G (p.Ala201Gly) | gnomAD v4 |
7 | g.150958196G= | CA1752418058 | KCNH2 | n.1612C= c.779C= (p.Ala260=) c.431C= (p.Ala144=) n.1002C= c.479C= (p.Ala160=) c.629C= (p.Ala210=) c.602C= (p.Ala201=) | |
7 | g.150958196G>T | CA369862522 | KCNH2 | n.1612C>A c.779C>A (p.Ala260Asp) c.431C>A (p.Ala144Asp) n.1002C>A c.479C>A (p.Ala160Asp) c.629C>A (p.Ala210Asp) c.602C>A (p.Ala201Asp) | gnomAD v4 |
7 | g.150958197C>A | CA369862524 | KCNH2 | n.1611G>T c.778G>T (p.Ala260Ser) c.430G>T (p.Ala144Ser) n.1001G>T c.478G>T (p.Ala160Ser) c.628G>T (p.Ala210Ser) c.601G>T (p.Ala201Ser) | gnomAD v4 |
7 | g.150958197C= | CA1752418061 | KCNH2 | n.1611G= c.778G= (p.Ala260=) c.430G= (p.Ala144=) n.1001G= c.478G= (p.Ala160=) c.628G= (p.Ala210=) c.601G= (p.Ala201=) | |
7 | g.150958197C>G | CA369862526 | KCNH2 | n.1611G>C c.778G>C (p.Ala260Pro) c.430G>C (p.Ala144Pro) n.1001G>C c.478G>C (p.Ala160Pro) c.628G>C (p.Ala210Pro) c.601G>C (p.Ala201Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958197C>T | CA369862528 | KCNH2 | n.1611G>A c.778G>A (p.Ala260Thr) c.430G>A (p.Ala144Thr) n.1001G>A c.478G>A (p.Ala160Thr) c.628G>A (p.Ala210Thr) c.601G>A (p.Ala201Thr) | ClinVar gnomAD v4 |
7 | g.150958198G>A | CA169081241 | KCNH2 | n.1610C>T c.777C>T (p.Asp259=) c.429C>T (p.Asp143=) n.1000C>T c.477C>T (p.Asp159=) c.627C>T (p.Asp209=) c.600C>T (p.Asp200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958198G>C | CA369862530 | KCNH2 | n.1610C>G c.777C>G (p.Asp259Glu) c.429C>G (p.Asp143Glu) n.1000C>G c.477C>G (p.Asp159Glu) c.627C>G (p.Asp209Glu) c.600C>G (p.Asp200Glu) | dbSNP gnomAD v4 |
7 | g.150958198G= | CA1752418066 | KCNH2 | n.1610C= c.777C= (p.Asp259=) c.429C= (p.Asp143=) n.1000C= c.477C= (p.Asp159=) c.627C= (p.Asp209=) c.600C= (p.Asp200=) | |
7 | g.150958198G>T | CA369862531 | KCNH2 | n.1610C>A c.777C>A (p.Asp259Glu) c.429C>A (p.Asp143Glu) n.1000C>A c.477C>A (p.Asp159Glu) c.627C>A (p.Asp209Glu) c.600C>A (p.Asp200Glu) | gnomAD v4 |
7 | g.150958199T>A | CA369862533 | KCNH2 | n.1609A>T c.776A>T (p.Asp259Val) c.428A>T (p.Asp143Val) n.999A>T c.476A>T (p.Asp159Val) c.626A>T (p.Asp209Val) c.599A>T (p.Asp200Val) | |
7 | g.150958199T>C | CA369862535 | KCNH2 | n.1609A>G c.776A>G (p.Asp259Gly) c.428A>G (p.Asp143Gly) n.999A>G c.476A>G (p.Asp159Gly) c.626A>G (p.Asp209Gly) c.599A>G (p.Asp200Gly) | gnomAD v4 |
7 | g.150958199T>G | CA369862537 | KCNH2 | n.1609A>C c.776A>C (p.Asp259Ala) c.428A>C (p.Asp143Ala) n.999A>C c.476A>C (p.Asp159Ala) c.626A>C (p.Asp209Ala) c.599A>C (p.Asp200Ala) | |
7 | g.150958200C>A | CA369862539 | KCNH2 | n.1608G>T c.775G>T (p.Asp259Tyr) c.427G>T (p.Asp143Tyr) n.998G>T c.475G>T (p.Asp159Tyr) c.625G>T (p.Asp209Tyr) c.598G>T (p.Asp200Tyr) | gnomAD v4 |
7 | g.150958200C= | CA1752418070 | KCNH2 | n.1608G= c.775G= (p.Asp259=) c.427G= (p.Asp143=) n.998G= c.475G= (p.Asp159=) c.625G= (p.Asp209=) c.598G= (p.Asp200=) | |
7 | g.150958200C>G | CA369862541 | KCNH2 | n.1608G>C c.775G>C (p.Asp259His) c.427G>C (p.Asp143His) n.998G>C c.475G>C (p.Asp159His) c.625G>C (p.Asp209His) c.598G>C (p.Asp200His) | |
7 | g.150958200C>T | CA008804 | KCNH2 | n.1608G>A c.775G>A (p.Asp259Asn) c.427G>A (p.Asp143Asn) n.998G>A c.475G>A (p.Asp159Asn) c.625G>A (p.Asp209Asn) c.598G>A (p.Asp200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958202_150958217del | CA2695208633 | KCNH2 | n.1593_1608del c.760_775del (p.His254ThrfsTer?) c.412_427del (p.His138ThrfsTer?) n.983_998del c.460_475del (p.His154ThrfsTer?) c.610_625del (p.His204ThrfsTer?) c.583_598del (p.His195ThrfsTer?) | |
7 | g.150958201G>A | CA458872017 | KCNH2 | n.1607C>T c.774C>T (p.Pro258=) c.426C>T (p.Pro142=) n.997C>T c.474C>T (p.Pro158=) c.624C>T (p.Pro208=) c.597C>T (p.Pro199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958201G>C | CA458872016 | KCNH2 | n.1607C>G c.774C>G (p.Pro258=) c.426C>G (p.Pro142=) n.997C>G c.474C>G (p.Pro158=) c.624C>G (p.Pro208=) c.597C>G (p.Pro199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958201G= | CA1752418079 | KCNH2 | n.1607C= c.774C= (p.Pro258=) c.426C= (p.Pro142=) n.997C= c.474C= (p.Pro158=) c.624C= (p.Pro208=) c.597C= (p.Pro199=) | |
7 | g.150958201G>T | CA458872014 | KCNH2 | n.1607C>A c.774C>A (p.Pro258=) c.426C>A (p.Pro142=) n.997C>A c.474C>A (p.Pro158=) c.624C>A (p.Pro208=) c.597C>A (p.Pro199=) | gnomAD v4 |
7 | g.150958204dup | CA354046 | KCNH2 | n.1607dup c.774dup (p.Asp259ArgfsTer?) c.426dup (p.Asp143ArgfsTer?) n.997dup c.474dup (p.Asp159ArgfsTer?) c.624dup (p.Asp209ArgfsTer?) c.597dup (p.Asp200ArgfsTer?) | ClinVar dbSNP |
7 | g.150958204del | CA2685607666 | KCNH2 | n.1607del c.774del (p.Asp259ThrfsTer?) c.426del (p.Asp143ThrfsTer?) n.997del c.474del (p.Asp159ThrfsTer?) c.624del (p.Asp209ThrfsTer?) c.597del (p.Asp200ThrfsTer?) | gnomAD v4 |
7 | g.150958202G>A | CA369862549 | KCNH2 | n.1606C>T c.773C>T (p.Pro258Leu) c.425C>T (p.Pro142Leu) n.996C>T c.473C>T (p.Pro158Leu) c.623C>T (p.Pro208Leu) c.596C>T (p.Pro199Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958202G>C | CA369862545 | KCNH2 | n.1606C>G c.773C>G (p.Pro258Arg) c.425C>G (p.Pro142Arg) n.996C>G c.473C>G (p.Pro158Arg) c.623C>G (p.Pro208Arg) c.596C>G (p.Pro199Arg) | |
7 | g.150958202G= | CA1752418083 | KCNH2 | n.1606C= c.773C= (p.Pro258=) c.425C= (p.Pro142=) n.996C= c.473C= (p.Pro158=) c.623C= (p.Pro208=) c.596C= (p.Pro199=) | |
7 | g.150958202G>T | CA369862547 | KCNH2 | n.1606C>A c.773C>A (p.Pro258His) c.425C>A (p.Pro142His) n.996C>A c.473C>A (p.Pro158His) c.623C>A (p.Pro208His) c.596C>A (p.Pro199His) | gnomAD v4 |
7 | g.150958203G>A | CA169081252 | KCNH2 | n.1605C>T c.772C>T (p.Pro258Ser) c.424C>T (p.Pro142Ser) n.995C>T c.472C>T (p.Pro158Ser) c.622C>T (p.Pro208Ser) c.595C>T (p.Pro199Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150958203G>C | CA369862551 | KCNH2 | n.1605C>G c.772C>G (p.Pro258Ala) c.424C>G (p.Pro142Ala) n.995C>G c.472C>G (p.Pro158Ala) c.622C>G (p.Pro208Ala) c.595C>G (p.Pro199Ala) | gnomAD v4 |
7 | g.150958203G= | CA1752418087 | KCNH2 | n.1605C= c.772C= (p.Pro258=) c.424C= (p.Pro142=) n.995C= c.472C= (p.Pro158=) c.622C= (p.Pro208=) c.595C= (p.Pro199=) | |
7 | g.150958203G>T | CA369862553 | KCNH2 | n.1605C>A c.772C>A (p.Pro258Thr) c.424C>A (p.Pro142Thr) n.995C>A c.472C>A (p.Pro158Thr) c.622C>A (p.Pro208Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
7 | g.150958204G>A | CA458872033 | KCNH2 | n.1604C>T c.771C>T (p.Asn257=) c.423C>T (p.Asn141=) n.994C>T c.471C>T (p.Asn157=) c.621C>T (p.Asn207=) c.594C>T (p.Asn198=) | gnomAD v4 |
7 | g.150958204G>C | CA369862555 | KCNH2 | n.1604C>G c.771C>G (p.Asn257Lys) c.423C>G (p.Asn141Lys) n.994C>G c.471C>G (p.Asn157Lys) c.621C>G (p.Asn207Lys) c.594C>G (p.Asn198Lys) | |
7 | g.150958204G>T | CA369862557 | KCNH2 | n.1604C>A c.771C>A (p.Asn257Lys) c.423C>A (p.Asn141Lys) n.994C>A c.471C>A (p.Asn157Lys) c.621C>A (p.Asn207Lys) c.594C>A (p.Asn198Lys) | gnomAD v4 |
7 | g.150958205T>A | CA369862559 | KCNH2 | n.1603A>T c.770A>T (p.Asn257Ile) c.422A>T (p.Asn141Ile) n.993A>T c.470A>T (p.Asn157Ile) c.620A>T (p.Asn207Ile) c.593A>T (p.Asn198Ile) | gnomAD v4 |
7 | g.150958205T>C | CA369862560 | KCNH2 | n.1603A>G c.770A>G (p.Asn257Ser) c.422A>G (p.Asn141Ser) n.993A>G c.470A>G (p.Asn157Ser) c.620A>G (p.Asn207Ser) c.593A>G (p.Asn198Ser) | gnomAD v4 |
7 | g.150958205T>G | CA369862562 | KCNH2 | n.1603A>C c.770A>C (p.Asn257Thr) c.422A>C (p.Asn141Thr) n.993A>C c.470A>C (p.Asn157Thr) c.620A>C (p.Asn207Thr) c.593A>C (p.Asn198Thr) | |
7 | g.150958206T>A | CA369862564 | KCNH2 | n.1602A>T c.769A>T (p.Asn257Tyr) c.421A>T (p.Asn141Tyr) n.992A>T c.469A>T (p.Asn157Tyr) c.619A>T (p.Asn207Tyr) c.592A>T (p.Asn198Tyr) | |
7 | g.150958206T>C | CA369862566 | KCNH2 | n.1602A>G c.769A>G (p.Asn257Asp) c.421A>G (p.Asn141Asp) n.992A>G c.469A>G (p.Asn157Asp) c.619A>G (p.Asn207Asp) c.592A>G (p.Asn198Asp) | gnomAD v4 |
7 | g.150958206T>G | CA008794 | KCNH2 | n.1602A>C c.769A>C (p.Asn257His) c.421A>C (p.Asn141His) n.992A>C c.469A>C (p.Asn157His) c.619A>C (p.Asn207His) c.592A>C (p.Asn198His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958206T= | CA1752418091 | KCNH2 | n.1602A= c.769A= (p.Asn257=) c.421A= (p.Asn141=) n.992A= c.469A= (p.Asn157=) c.619A= (p.Asn207=) c.592A= (p.Asn198=) | |
7 | g.150958206_150958207delinsTG | CA072191 | KCNH2 | n.1601_1602delinsCA c.768_769delinsCA (p.Leu256=) c.420_421delinsCA (p.Leu140=) n.991_992delinsCA c.468_469delinsCA (p.Leu156=) c.618_619delinsCA (p.Leu206=) c.591_592delinsCA (p.Leu197=) | |
7 | g.150958207del | CA2778425885 | KCNH2 | n.1601del c.768del (p.Asn257ThrfsTer?) c.420del (p.Asn141ThrfsTer?) n.991del c.468del (p.Asn157ThrfsTer?) c.618del (p.Asn207ThrfsTer?) c.591del (p.Asn198ThrfsTer?) | |
7 | g.150958207G>A | CA458872034 | KCNH2 | n.1601C>T c.768C>T (p.Leu256=) c.420C>T (p.Leu140=) n.991C>T c.468C>T (p.Leu156=) c.618C>T (p.Leu206=) c.591C>T (p.Leu197=) | dbSNP gnomAD v4 |
7 | g.150958207G>C | CA458872035 | KCNH2 | n.1601C>G c.768C>G (p.Leu256=) c.420C>G (p.Leu140=) n.991C>G c.468C>G (p.Leu156=) c.618C>G (p.Leu206=) c.591C>G (p.Leu197=) | |
7 | g.150958207G= | CA1752418094 | KCNH2 | n.1601C= c.768C= (p.Leu256=) c.420C= (p.Leu140=) n.991C= c.468C= (p.Leu156=) c.618C= (p.Leu206=) c.591C= (p.Leu197=) | |
7 | g.150958207G>T | CA458872036 | KCNH2 | n.1601C>A c.768C>A (p.Leu256=) c.420C>A (p.Leu140=) n.991C>A c.468C>A (p.Leu156=) c.618C>A (p.Leu206=) c.591C>A (p.Leu197=) | gnomAD v4 |
7 | g.150958208_150958221del | CA2695208634 | KCNH2 | n.1588_1601del c.755_768del (p.Arg252GlnfsTer?) c.407_420del (p.Arg136GlnfsTer?) n.978_991del c.455_468del (p.Arg152GlnfsTer?) c.605_618del (p.Arg202GlnfsTer?) c.578_591del (p.Arg193GlnfsTer?) | |
7 | g.150958208A>C | CA369862572 | KCNH2 | n.1600T>G c.767T>G (p.Leu256Arg) c.419T>G (p.Leu140Arg) n.990T>G c.467T>G (p.Leu156Arg) c.617T>G (p.Leu206Arg) c.590T>G (p.Leu197Arg) | |
7 | g.150958208A>G | CA369862570 | KCNH2 | n.1600T>C c.767T>C (p.Leu256Pro) c.419T>C (p.Leu140Pro) n.990T>C c.467T>C (p.Leu156Pro) c.617T>C (p.Leu206Pro) c.590T>C (p.Leu197Pro) | ClinVar gnomAD v4 |
7 | g.150958208A>T | CA369862568 | KCNH2 | n.1600T>A c.767T>A (p.Leu256His) c.419T>A (p.Leu140His) n.990T>A c.467T>A (p.Leu156His) c.617T>A (p.Leu206His) c.590T>A (p.Leu197His) | |
7 | g.150958208dup | CA2697549696 | KCNH2 | n.1600dup c.767dup (p.Asn257GlnfsTer?) c.419dup (p.Asn141GlnfsTer?) n.990dup c.467dup (p.Asn157GlnfsTer?) c.617dup (p.Asn207GlnfsTer?) c.590dup (p.Asn198GlnfsTer?) | ClinVar |
7 | g.150958209G>A | CA369862574 | KCNH2 | n.1599C>T c.766C>T (p.Leu256Phe) c.418C>T (p.Leu140Phe) n.989C>T c.466C>T (p.Leu156Phe) c.616C>T (p.Leu206Phe) c.589C>T (p.Leu197Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958209G>C | CA369862575 | KCNH2 | n.1599C>G c.766C>G (p.Leu256Val) c.418C>G (p.Leu140Val) n.989C>G c.466C>G (p.Leu156Val) c.616C>G (p.Leu206Val) c.589C>G (p.Leu197Val) | |
7 | g.150958209G= | CA1752418096 | KCNH2 | n.1599C= c.766C= (p.Leu256=) c.418C= (p.Leu140=) n.989C= c.466C= (p.Leu156=) c.616C= (p.Leu206=) c.589C= (p.Leu197=) | |
7 | g.150958209G>T | CA369862577 | KCNH2 | n.1599C>A c.766C>A (p.Leu256Ile) c.418C>A (p.Leu140Ile) n.989C>A c.466C>A (p.Leu156Ile) c.616C>A (p.Leu206Ile) c.589C>A (p.Leu197Ile) | gnomAD v4 |
7 | g.150958211_150958222del | CA2685607687 | KCNH2 | n.1588_1599del c.755_766del (p.Arg252_Ser255del) c.407_418del (p.Arg136_Ser139del) n.978_989del c.455_466del (p.Arg152_Ser155del) c.605_616del (p.Arg202_Ser205del) c.578_589del (p.Arg193_Ser196del) | gnomAD v4 |
7 | g.150958210G>A | CA458872039 | KCNH2 | n.1598C>T c.765C>T (p.Ser255=) c.417C>T (p.Ser139=) n.988C>T c.465C>T (p.Ser155=) c.615C>T (p.Ser205=) c.588C>T (p.Ser196=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958210G>C | CA369862579 | KCNH2 | n.1598C>G c.765C>G (p.Ser255Arg) c.417C>G (p.Ser139Arg) n.988C>G c.465C>G (p.Ser155Arg) c.615C>G (p.Ser205Arg) c.588C>G (p.Ser196Arg) | |
7 | g.150958210G>T | CA369862581 | KCNH2 | n.1598C>A c.765C>A (p.Ser255Arg) c.417C>A (p.Ser139Arg) n.988C>A c.465C>A (p.Ser155Arg) c.615C>A (p.Ser205Arg) c.588C>A (p.Ser196Arg) | ClinVar gnomAD v4 |
7 | g.150958211C>A | CA369862582 | KCNH2 | n.1597G>T c.764G>T (p.Ser255Ile) c.416G>T (p.Ser139Ile) n.987G>T c.464G>T (p.Ser155Ile) c.614G>T (p.Ser205Ile) c.587G>T (p.Ser196Ile) | gnomAD v4 |
7 | g.150958211C>G | CA369862584 | KCNH2 | n.1597G>C c.764G>C (p.Ser255Thr) c.416G>C (p.Ser139Thr) n.987G>C c.464G>C (p.Ser155Thr) c.614G>C (p.Ser205Thr) c.587G>C (p.Ser196Thr) | gnomAD v4 |
7 | g.150958211C>T | CA369862586 | KCNH2 | n.1597G>A c.764G>A (p.Ser255Asn) c.416G>A (p.Ser139Asn) n.987G>A c.464G>A (p.Ser155Asn) c.614G>A (p.Ser205Asn) c.587G>A (p.Ser196Asn) | gnomAD v4 |
7 | g.150958212T>A | CA369862588 | KCNH2 | n.1596A>T c.763A>T (p.Ser255Cys) c.415A>T (p.Ser139Cys) n.986A>T c.463A>T (p.Ser155Cys) c.613A>T (p.Ser205Cys) c.586A>T (p.Ser196Cys) | |
7 | g.150958212T>C | CA369862589 | KCNH2 | n.1596A>G c.763A>G (p.Ser255Gly) c.415A>G (p.Ser139Gly) n.986A>G c.463A>G (p.Ser155Gly) c.613A>G (p.Ser205Gly) c.586A>G (p.Ser196Gly) | gnomAD v4 |
7 | g.150958212T>G | CA369862592 | KCNH2 | n.1596A>C c.763A>C (p.Ser255Arg) c.415A>C (p.Ser139Arg) n.986A>C c.463A>C (p.Ser155Arg) c.613A>C (p.Ser205Arg) c.586A>C (p.Ser196Arg) | |
7 | g.150958213G>A | CA458872052 | KCNH2 | n.1595C>T c.762C>T (p.His254=) c.414C>T (p.His138=) n.985C>T c.462C>T (p.His154=) c.612C>T (p.His204=) c.585C>T (p.His195=) | gnomAD v4 |
7 | g.150958213G>C | CA008780 | KCNH2 | n.1595C>G c.762C>G (p.His254Gln) c.414C>G (p.His138Gln) n.985C>G c.462C>G (p.His154Gln) c.612C>G (p.His204Gln) c.585C>G (p.His195Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.150958213G= | CA1752418101 | KCNH2 | n.1595C= c.762C= (p.His254=) c.414C= (p.His138=) n.985C= c.462C= (p.His154=) c.612C= (p.His204=) c.585C= (p.His195=) | |
7 | g.150958213G>T | CA369862594 | KCNH2 | n.1595C>A c.762C>A (p.His254Gln) c.414C>A (p.His138Gln) n.985C>A c.462C>A (p.His154Gln) c.612C>A (p.His204Gln) c.585C>A (p.His195Gln) | gnomAD v4 |
7 | g.150958214T>A | CA369862598 | KCNH2 | n.1594A>T c.761A>T (p.His254Leu) c.413A>T (p.His138Leu) n.984A>T c.461A>T (p.His154Leu) c.611A>T (p.His204Leu) c.584A>T (p.His195Leu) | gnomAD v4 |
7 | g.150958214T>C | CA369862600 | KCNH2 | n.1594A>G c.761A>G (p.His254Arg) c.413A>G (p.His138Arg) n.984A>G c.461A>G (p.His154Arg) c.611A>G (p.His204Arg) c.584A>G (p.His195Arg) | dbSNP gnomAD v4 |
7 | g.150958214T>G | CA369862597 | KCNH2 | n.1594A>C c.761A>C (p.His254Pro) c.413A>C (p.His138Pro) n.984A>C c.461A>C (p.His154Pro) c.611A>C (p.His204Pro) c.584A>C (p.His195Pro) | |
7 | g.150958214T= | CA1752418108 | KCNH2 | n.1594A= c.761A= (p.His254=) c.413A= (p.His138=) n.984A= c.461A= (p.His154=) c.611A= (p.His204=) c.584A= (p.His195=) | |
7 | g.150958215G>A | CA369862602 | KCNH2 | n.1593C>T c.760C>T (p.His254Tyr) c.412C>T (p.His138Tyr) n.983C>T c.460C>T (p.His154Tyr) c.610C>T (p.His204Tyr) c.583C>T (p.His195Tyr) | gnomAD v4 |
7 | g.150958215G>C | CA369862603 | KCNH2 | n.1593C>G c.760C>G (p.His254Asp) c.412C>G (p.His138Asp) n.983C>G c.460C>G (p.His154Asp) c.610C>G (p.His204Asp) c.583C>G (p.His195Asp) | gnomAD v4 |
7 | g.150958215G>T | CA369862605 | KCNH2 | n.1593C>A c.760C>A (p.His254Asn) c.412C>A (p.His138Asn) n.983C>A c.460C>A (p.His154Asn) c.610C>A (p.His204Asn) c.583C>A (p.His195Asn) | gnomAD v4 |
7 | g.150958217_150958218del | CA2695208635 | KCNH2 | n.1592_1593del c.759_760del (p.His254GlnfsTer?) c.411_412del (p.His138GlnfsTer?) n.982_983del c.459_460del (p.His154GlnfsTer?) c.609_610del (p.His204GlnfsTer?) c.582_583del (p.His195GlnfsTer?) | |
7 | g.150958217_150958234dup | CA2685607721 | KCNH2 | n.1576_1593dup c.743_760dup (p.Ala253_His254insLeuProSerProArgAla) c.395_412dup (p.Ala137_His138insLeuProSerProArgAla) n.966_983dup c.443_460dup (p.Ala153_His154insLeuProSerProArgAla) c.593_610dup (p.Ala203_His204insLeuProSerProArgAla) c.566_583dup (p.Ala194_His195insLeuProSerProArgAla) | gnomAD v4 |
7 | g.150958216C>A | CA458872055 | KCNH2 | n.1592G>T c.759G>T (p.Ala253=) c.411G>T (p.Ala137=) n.982G>T c.459G>T (p.Ala153=) c.609G>T (p.Ala203=) c.582G>T (p.Ala194=) | gnomAD v4 |
7 | g.150958216C= | CA1752418110 | KCNH2 | n.1592G= c.759G= (p.Ala253=) c.411G= (p.Ala137=) n.982G= c.459G= (p.Ala153=) c.609G= (p.Ala203=) c.582G= (p.Ala194=) | |
7 | g.150958216C>G | CA458872056 | KCNH2 | n.1592G>C c.759G>C (p.Ala253=) c.411G>C (p.Ala137=) n.982G>C c.459G>C (p.Ala153=) c.609G>C (p.Ala203=) c.582G>C (p.Ala194=) | gnomAD v4 |
7 | g.150958216C>T | CA458872058 | KCNH2 | n.1592G>A c.759G>A (p.Ala253=) c.411G>A (p.Ala137=) n.982G>A c.459G>A (p.Ala153=) c.609G>A (p.Ala203=) c.582G>A (p.Ala194=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958217G>A | CA369862607 | KCNH2 | n.1591C>T c.758C>T (p.Ala253Val) c.410C>T (p.Ala137Val) n.981C>T c.458C>T (p.Ala153Val) c.608C>T (p.Ala203Val) c.581C>T (p.Ala194Val) | gnomAD v4 |
7 | g.150958217G>C | CA008771 | KCNH2 | n.1591C>G c.758C>G (p.Ala253Gly) c.410C>G (p.Ala137Gly) n.981C>G c.458C>G (p.Ala153Gly) c.608C>G (p.Ala203Gly) c.581C>G (p.Ala194Gly) | ClinVar dbSNP |
7 | g.150958217G= | CA1752418113 | KCNH2 | n.1591C= c.758C= (p.Ala253=) c.410C= (p.Ala137=) n.981C= c.458C= (p.Ala153=) c.608C= (p.Ala203=) c.581C= (p.Ala194=) | |
7 | g.150958217G>T | CA369862609 | KCNH2 | n.1591C>A c.758C>A (p.Ala253Glu) c.410C>A (p.Ala137Glu) n.981C>A c.458C>A (p.Ala153Glu) c.608C>A (p.Ala203Glu) c.581C>A (p.Ala194Glu) | gnomAD v4 |
7 | g.150958218C>A | CA369862612 | KCNH2 | n.1590G>T c.757G>T (p.Ala253Ser) c.409G>T (p.Ala137Ser) n.980G>T c.457G>T (p.Ala153Ser) c.607G>T (p.Ala203Ser) c.580G>T (p.Ala194Ser) | gnomAD v4 |
7 | g.150958218C>G | CA369862613 | KCNH2 | n.1590G>C c.757G>C (p.Ala253Pro) c.409G>C (p.Ala137Pro) n.980G>C c.457G>C (p.Ala153Pro) c.607G>C (p.Ala203Pro) c.580G>C (p.Ala194Pro) | |
7 | g.150958218C>T | CA369862615 | KCNH2 | n.1590G>A c.757G>A (p.Ala253Thr) c.409G>A (p.Ala137Thr) n.980G>A c.457G>A (p.Ala153Thr) c.607G>A (p.Ala203Thr) c.580G>A (p.Ala194Thr) | gnomAD v4 |
7 | g.150958220dup | CA2739278348 | KCNH2 | n.1590dup c.757dup (p.Ala253GlyfsTer?) c.409dup (p.Ala137GlyfsTer?) n.980dup c.457dup (p.Ala153GlyfsTer?) c.607dup (p.Ala203GlyfsTer?) c.580dup (p.Ala194GlyfsTer?) | ClinVar |
7 | g.150958220del | CA2685607731 | KCNH2 | n.1590del c.757del (p.Ala253ArgfsTer?) c.409del (p.Ala137ArgfsTer?) n.980del c.457del (p.Ala153ArgfsTer?) c.607del (p.Ala203ArgfsTer?) c.580del (p.Ala194ArgfsTer?) | gnomAD v4 |
7 | g.150958219C>A | CA458872071 | KCNH2 | n.1589G>T c.756G>T (p.Arg252=) c.408G>T (p.Arg136=) n.979G>T c.456G>T (p.Arg152=) c.606G>T (p.Arg202=) c.579G>T (p.Arg193=) | gnomAD v4 |
7 | g.150958219C>G | CA458872072 | KCNH2 | n.1589G>C c.756G>C (p.Arg252=) c.408G>C (p.Arg136=) n.979G>C c.456G>C (p.Arg152=) c.606G>C (p.Arg202=) c.579G>C (p.Arg193=) | |
7 | g.150958219C>T | CA458872074 | KCNH2 | n.1589G>A c.756G>A (p.Arg252=) c.408G>A (p.Arg136=) n.979G>A c.456G>A (p.Arg152=) c.606G>A (p.Arg202=) c.579G>A (p.Arg193=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958219_150958221del | CA2695208636 | KCNH2 | n.1587_1589del c.754_756del (p.Arg252del) c.406_408del (p.Arg136del) n.977_979del c.454_456del (p.Arg152del) c.604_606del (p.Arg202del) c.577_579del (p.Arg193del) | |
7 | g.150958220C>A | CA369862617 | KCNH2 | n.1588G>T c.755G>T (p.Arg252Leu) c.407G>T (p.Arg136Leu) n.978G>T c.455G>T (p.Arg152Leu) c.605G>T (p.Arg202Leu) c.578G>T (p.Arg193Leu) | gnomAD v4 |
7 | g.150958220C= | CA1752418117 | KCNH2 | n.1588G= c.755G= (p.Arg252=) c.407G= (p.Arg136=) n.978G= c.455G= (p.Arg152=) c.605G= (p.Arg202=) c.578G= (p.Arg193=) | |
7 | g.150958220C>G | CA369862618 | KCNH2 | n.1588G>C c.755G>C (p.Arg252Pro) c.407G>C (p.Arg136Pro) n.978G>C c.455G>C (p.Arg152Pro) c.605G>C (p.Arg202Pro) c.578G>C (p.Arg193Pro) | gnomAD v4 |
7 | g.150958220C>T | CA008760 | KCNH2 | n.1588G>A c.755G>A (p.Arg252Gln) c.407G>A (p.Arg136Gln) n.978G>A c.455G>A (p.Arg152Gln) c.605G>A (p.Arg202Gln) c.578G>A (p.Arg193Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958221G>A | CA169081266 | KCNH2 | n.1587C>T c.754C>T (p.Arg252Trp) c.406C>T (p.Arg136Trp) n.977C>T c.454C>T (p.Arg152Trp) c.604C>T (p.Arg202Trp) c.577C>T (p.Arg193Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958221G>C | CA008755 | KCNH2 | n.1587C>G c.754C>G (p.Arg252Gly) c.406C>G (p.Arg136Gly) n.977C>G c.454C>G (p.Arg152Gly) c.604C>G (p.Arg202Gly) c.577C>G (p.Arg193Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958221G= | CA1752418128 | KCNH2 | n.1587C= c.754C= (p.Arg252=) c.406C= (p.Arg136=) n.977C= c.454C= (p.Arg152=) c.604C= (p.Arg202=) c.577C= (p.Arg193=) | |
7 | g.150958221G>T | CA169081268 | KCNH2 | n.1587C>A c.754C>A (p.Arg252=) c.406C>A (p.Arg136=) n.977C>A c.454C>A (p.Arg152=) c.604C>A (p.Arg202=) c.577C>A (p.Arg193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958224del | CA2685607759 | KCNH2 | n.1587del c.754del (p.Arg252GlyfsTer?) c.406del (p.Arg136GlyfsTer?) n.977del c.454del (p.Arg152GlyfsTer?) c.604del (p.Arg202GlyfsTer?) c.577del (p.Arg193GlyfsTer?) | gnomAD v4 |
7 | g.150958223_150958242dup | CA305302 | KCNH2 | n.1568_1587dup c.735_754dup (p.Arg252ProfsTer?) c.387_406dup (p.Arg136ProfsTer?) n.958_977dup c.435_454dup (p.Arg152ProfsTer?) c.585_604dup (p.Arg202ProfsTer?) c.558_577dup (p.Arg193ProfsTer?) | ClinVar dbSNP |
7 | g.150958222G>A | CA458872083 | KCNH2 | n.1586C>T c.753C>T (p.Pro251=) c.405C>T (p.Pro135=) n.976C>T c.453C>T (p.Pro151=) c.603C>T (p.Pro201=) c.576C>T (p.Pro192=) | gnomAD v4 |
7 | g.150958222G>C | CA458872084 | KCNH2 | n.1586C>G c.753C>G (p.Pro251=) c.405C>G (p.Pro135=) n.976C>G c.453C>G (p.Pro151=) c.603C>G (p.Pro201=) c.576C>G (p.Pro192=) | |
7 | g.150958222G>T | CA458872086 | KCNH2 | n.1586C>A c.753C>A (p.Pro251=) c.405C>A (p.Pro135=) n.976C>A c.453C>A (p.Pro151=) c.603C>A (p.Pro201=) c.576C>A (p.Pro192=) | gnomAD v4 |
7 | g.150958223G>A | CA369862628 | KCNH2 | n.1585C>T c.752C>T (p.Pro251Leu) c.404C>T (p.Pro135Leu) n.975C>T c.452C>T (p.Pro151Leu) c.602C>T (p.Pro201Leu) c.575C>T (p.Pro192Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958223G>C | CA369862630 | KCNH2 | n.1585C>G c.752C>G (p.Pro251Arg) c.404C>G (p.Pro135Arg) n.975C>G c.452C>G (p.Pro151Arg) c.602C>G (p.Pro201Arg) c.575C>G (p.Pro192Arg) | |
7 | g.150958223G= | CA1752418131 | KCNH2 | n.1585C= c.752C= (p.Pro251=) c.404C= (p.Pro135=) n.975C= c.452C= (p.Pro151=) c.602C= (p.Pro201=) c.575C= (p.Pro192=) | |
7 | g.150958223G>T | CA369862632 | KCNH2 | n.1585C>A c.752C>A (p.Pro251His) c.404C>A (p.Pro135His) n.975C>A c.452C>A (p.Pro151His) c.602C>A (p.Pro201His) c.575C>A (p.Pro192His) | gnomAD v4 |
7 | g.150958224G>A | CA008748 | KCNH2 | n.1584C>T c.751C>T (p.Pro251Ser) c.403C>T (p.Pro135Ser) n.974C>T c.451C>T (p.Pro151Ser) c.601C>T (p.Pro201Ser) c.574C>T (p.Pro192Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150958224G>C | CA008740 | KCNH2 | n.1584C>G c.751C>G (p.Pro251Ala) c.403C>G (p.Pro135Ala) n.974C>G c.451C>G (p.Pro151Ala) c.601C>G (p.Pro201Ala) c.574C>G (p.Pro192Ala) | ClinVar dbSNP |
7 | g.150958224G= | CA1752418136 | KCNH2 | n.1584C= c.751C= (p.Pro251=) c.403C= (p.Pro135=) n.974C= c.451C= (p.Pro151=) c.601C= (p.Pro201=) c.574C= (p.Pro192=) | |
7 | g.150958224G>T | CA369862636 | KCNH2 | n.1584C>A c.751C>A (p.Pro251Thr) c.403C>A (p.Pro135Thr) n.974C>A c.451C>A (p.Pro151Thr) c.601C>A (p.Pro201Thr) c.574C>A (p.Pro192Thr) | gnomAD v4 |
7 | g.150958224_150958225delinsAG | CA2573141817 | KCNH2 | n.1583_1584delinsCT c.750_751delinsCT (p.Pro251Ser) c.402_403delinsCT (p.Pro135Ser) n.973_974delinsCT c.450_451delinsCT (p.Pro151Ser) c.600_601delinsCT (p.Pro201Ser) c.573_574delinsCT (p.Pro192Ser) | ClinVar dbSNP |
7 | g.150958225C>A | CA458872088 | KCNH2 | n.1583G>T c.750G>T (p.Ser250=) c.402G>T (p.Ser134=) n.973G>T c.450G>T (p.Ser150=) c.600G>T (p.Ser200=) c.573G>T (p.Ser191=) | dbSNP gnomAD v4 |
7 | g.150958225C= | CA1752418140 | KCNH2 | n.1583G= c.750G= (p.Ser250=) c.402G= (p.Ser134=) n.973G= c.450G= (p.Ser150=) c.600G= (p.Ser200=) c.573G= (p.Ser191=) | |
7 | g.150958225C>G | CA458872090 | KCNH2 | n.1583G>C c.750G>C (p.Ser250=) c.402G>C (p.Ser134=) n.973G>C c.450G>C (p.Ser150=) c.600G>C (p.Ser200=) c.573G>C (p.Ser191=) | dbSNP gnomAD v4 |
7 | g.150958225C>T | CA458872089 | KCNH2 | n.1583G>A c.750G>A (p.Ser250=) c.402G>A (p.Ser134=) n.973G>A c.450G>A (p.Ser150=) c.600G>A (p.Ser200=) c.573G>A (p.Ser191=) | ClinVar gnomAD v4 |
7 | g.150958226G>A | CA369862638 | KCNH2 | n.1582C>T c.749C>T (p.Ser250Leu) c.401C>T (p.Ser134Leu) n.972C>T c.449C>T (p.Ser150Leu) c.599C>T (p.Ser200Leu) c.572C>T (p.Ser191Leu) | dbSNP gnomAD v4 |
7 | g.150958226G>C | CA369862640 | KCNH2 | n.1582C>G c.749C>G (p.Ser250Trp) c.401C>G (p.Ser134Trp) n.972C>G c.449C>G (p.Ser150Trp) c.599C>G (p.Ser200Trp) c.572C>G (p.Ser191Trp) | |
7 | g.150958226G= | CA1752418142 | KCNH2 | n.1582C= c.749C= (p.Ser250=) c.401C= (p.Ser134=) n.972C= c.449C= (p.Ser150=) c.599C= (p.Ser200=) c.572C= (p.Ser191=) | |
7 | g.150958226G>T | CA008733 | KCNH2 | n.1582C>A c.749C>A (p.Ser250Ter) c.401C>A (p.Ser134Ter) n.972C>A c.449C>A (p.Ser150Ter) c.599C>A (p.Ser200Ter) c.572C>A (p.Ser191Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.150958227A>C | CA369862643 | KCNH2 | n.1581T>G c.748T>G (p.Ser250Ala) c.400T>G (p.Ser134Ala) n.971T>G c.448T>G (p.Ser150Ala) c.598T>G (p.Ser200Ala) c.571T>G (p.Ser191Ala) | |
7 | g.150958227A>G | CA369862645 | KCNH2 | n.1581T>C c.748T>C (p.Ser250Pro) c.400T>C (p.Ser134Pro) n.971T>C c.448T>C (p.Ser150Pro) c.598T>C (p.Ser200Pro) c.571T>C (p.Ser191Pro) | gnomAD v4 |
7 | g.150958227A>T | CA369862642 | KCNH2 | n.1581T>A c.748T>A (p.Ser250Thr) c.400T>A (p.Ser134Thr) n.971T>A c.448T>A (p.Ser150Thr) c.598T>A (p.Ser200Thr) c.571T>A (p.Ser191Thr) | ClinVar dbSNP |
7 | g.150958228T>A | CA458872096 | KCNH2 | n.1580A>T c.747A>T (p.Pro249=) c.399A>T (p.Pro133=) n.970A>T c.447A>T (p.Pro149=) c.597A>T (p.Pro199=) c.570A>T (p.Pro190=) | |
7 | g.150958228T>C | CA458872097 | KCNH2 | n.1580A>G c.747A>G (p.Pro249=) c.399A>G (p.Pro133=) n.970A>G c.447A>G (p.Pro149=) c.597A>G (p.Pro199=) c.570A>G (p.Pro190=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958228T>G | CA458872098 | KCNH2 | n.1580A>C c.747A>C (p.Pro249=) c.399A>C (p.Pro133=) n.970A>C c.447A>C (p.Pro149=) c.597A>C (p.Pro199=) c.570A>C (p.Pro190=) | |
7 | g.150958229G>A | CA369862649 | KCNH2 | n.1579C>T c.746C>T (p.Pro249Leu) c.398C>T (p.Pro133Leu) n.969C>T c.446C>T (p.Pro149Leu) c.596C>T (p.Pro199Leu) c.569C>T (p.Pro190Leu) | dbSNP gnomAD v4 |
7 | g.150958229G>C | CA369862648 | KCNH2 | n.1579C>G c.746C>G (p.Pro249Arg) c.398C>G (p.Pro133Arg) n.969C>G c.446C>G (p.Pro149Arg) c.596C>G (p.Pro199Arg) c.569C>G (p.Pro190Arg) | |
7 | g.150958229G= | CA1752418146 | KCNH2 | n.1579C= c.746C= (p.Pro249=) c.398C= (p.Pro133=) n.969C= c.446C= (p.Pro149=) c.596C= (p.Pro199=) c.569C= (p.Pro190=) | |
7 | g.150958229G>T | CA369862651 | KCNH2 | n.1579C>A c.746C>A (p.Pro249Gln) c.398C>A (p.Pro133Gln) n.969C>A c.446C>A (p.Pro149Gln) c.596C>A (p.Pro199Gln) c.569C>A (p.Pro190Gln) | gnomAD v4 |
7 | g.150958231del | CA2582341955 | KCNH2 | n.1579del c.746del (p.Pro249HisfsTer?) c.398del (p.Pro133HisfsTer?) n.969del c.446del (p.Pro149HisfsTer?) c.596del (p.Pro199HisfsTer?) c.569del (p.Pro190HisfsTer?) | ClinVar gnomAD v4 |
7 | g.150958230G>A | CA369862654 | KCNH2 | n.1578C>T c.745C>T (p.Pro249Ser) c.397C>T (p.Pro133Ser) n.968C>T c.445C>T (p.Pro149Ser) c.595C>T (p.Pro199Ser) c.568C>T (p.Pro190Ser) | gnomAD v4 |
7 | g.150958230G>C | CA369862655 | KCNH2 | n.1578C>G c.745C>G (p.Pro249Ala) c.397C>G (p.Pro133Ala) n.968C>G c.445C>G (p.Pro149Ala) c.595C>G (p.Pro199Ala) c.568C>G (p.Pro190Ala) | |
7 | g.150958230G>T | CA369862657 | KCNH2 | n.1578C>A c.745C>A (p.Pro249Thr) c.397C>A (p.Pro133Thr) n.968C>A c.445C>A (p.Pro149Thr) c.595C>A (p.Pro199Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
7 | g.150958231G>A | CA458872107 | KCNH2 | n.1577C>T c.744C>T (p.Leu248=) c.396C>T (p.Leu132=) n.967C>T c.444C>T (p.Leu148=) c.594C>T (p.Leu198=) c.567C>T (p.Leu189=) | gnomAD v4 |
7 | g.150958231G>C | CA458872111 | KCNH2 | n.1577C>G c.744C>G (p.Leu248=) c.396C>G (p.Leu132=) n.967C>G c.444C>G (p.Leu148=) c.594C>G (p.Leu198=) c.567C>G (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958231G= | CA1752418149 | KCNH2 | n.1577C= c.744C= (p.Leu248=) c.396C= (p.Leu132=) n.967C= c.444C= (p.Leu148=) c.594C= (p.Leu198=) c.567C= (p.Leu189=) | |
7 | g.150958231G>T | CA458872113 | KCNH2 | n.1577C>A c.744C>A (p.Leu248=) c.396C>A (p.Leu132=) n.967C>A c.444C>A (p.Leu148=) c.594C>A (p.Leu198=) c.567C>A (p.Leu189=) | gnomAD v4 |
7 | g.150958232A= | CA1752418150 | KCNH2 | n.1576T= c.743T= (p.Leu248=) c.395T= (p.Leu132=) n.966T= c.443T= (p.Leu148=) c.593T= (p.Leu198=) c.566T= (p.Leu189=) | |
7 | g.150958232A>C | CA369862659 | KCNH2 | n.1576T>G c.743T>G (p.Leu248Arg) c.395T>G (p.Leu132Arg) n.966T>G c.443T>G (p.Leu148Arg) c.593T>G (p.Leu198Arg) c.566T>G (p.Leu189Arg) | ClinVar dbSNP |
7 | g.150958232A>G | CA369862661 | KCNH2 | n.1576T>C c.743T>C (p.Leu248Pro) c.395T>C (p.Leu132Pro) n.966T>C c.443T>C (p.Leu148Pro) c.593T>C (p.Leu198Pro) c.566T>C (p.Leu189Pro) | gnomAD v4 |
7 | g.150958232A>T | CA369862662 | KCNH2 | n.1576T>A c.743T>A (p.Leu248His) c.395T>A (p.Leu132His) n.966T>A c.443T>A (p.Leu148His) c.593T>A (p.Leu198His) c.566T>A (p.Leu189His) | |
7 | g.150958233G>A | CA369862664 | KCNH2 | n.1575C>T c.742C>T (p.Leu248Phe) c.394C>T (p.Leu132Phe) n.965C>T c.442C>T (p.Leu148Phe) c.592C>T (p.Leu198Phe) c.565C>T (p.Leu189Phe) | gnomAD v4 |
7 | g.150958233G>C | CA369862666 | KCNH2 | n.1575C>G c.742C>G (p.Leu248Val) c.394C>G (p.Leu132Val) n.965C>G c.442C>G (p.Leu148Val) c.592C>G (p.Leu198Val) c.565C>G (p.Leu189Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958233G= | CA1752418151 | KCNH2 | n.1575C= c.742C= (p.Leu248=) c.394C= (p.Leu132=) n.965C= c.442C= (p.Leu148=) c.592C= (p.Leu198=) c.565C= (p.Leu189=) | |
7 | g.150958233G>T | CA369862667 | KCNH2 | n.1575C>A c.742C>A (p.Leu248Ile) c.394C>A (p.Leu132Ile) n.965C>A c.442C>A (p.Leu148Ile) c.592C>A (p.Leu198Ile) c.565C>A (p.Leu189Ile) | gnomAD v4 |
7 | g.150958237_150958249del | CA2695208637 | KCNH2 | n.1563_1575del c.730_742del (p.Ala244SerfsTer?) c.382_394del (p.Ala128SerfsTer?) n.953_965del c.430_442del (p.Ala144SerfsTer?) c.580_592del (p.Ala194SerfsTer?) c.553_565del (p.Ala185SerfsTer?) | |
7 | g.150958234C>A | CA369862668 | KCNH2 | n.1574G>T c.741G>T (p.Gln247His) c.393G>T (p.Gln131His) n.964G>T c.441G>T (p.Gln147His) c.591G>T (p.Gln197His) c.564G>T (p.Gln188His) | gnomAD v4 |
7 | g.150958234C>G | CA369862669 | KCNH2 | n.1574G>C c.741G>C (p.Gln247His) c.393G>C (p.Gln131His) n.964G>C c.441G>C (p.Gln147His) c.591G>C (p.Gln197His) c.564G>C (p.Gln188His) | |
7 | g.150958234C>T | CA072053 | KCNH2 | n.1574G>A c.741G>A (p.Gln247=) c.393G>A (p.Gln131=) n.964G>A c.441G>A (p.Gln147=) c.591G>A (p.Gln197=) c.564G>A (p.Gln188=) | gnomAD v4 |
7 | g.150958235T>A | CA369862672 | KCNH2 | n.1573A>T c.740A>T (p.Gln247Leu) c.392A>T (p.Gln131Leu) n.963A>T c.440A>T (p.Gln147Leu) c.590A>T (p.Gln197Leu) c.563A>T (p.Gln188Leu) | |
7 | g.150958235T>C | CA369862671 | KCNH2 | n.1573A>G c.740A>G (p.Gln247Arg) c.392A>G (p.Gln131Arg) n.963A>G c.440A>G (p.Gln147Arg) c.590A>G (p.Gln197Arg) c.563A>G (p.Gln188Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958235T>G | CA369862670 | KCNH2 | n.1573A>C c.740A>C (p.Gln247Pro) c.392A>C (p.Gln131Pro) n.963A>C c.440A>C (p.Gln147Pro) c.590A>C (p.Gln197Pro) c.563A>C (p.Gln188Pro) | |
7 | g.150958235T= | CA1752418152 | KCNH2 | n.1573A= c.740A= (p.Gln247=) c.392A= (p.Gln131=) n.963A= c.440A= (p.Gln147=) c.590A= (p.Gln197=) c.563A= (p.Gln188=) | |
7 | g.150958236G>A | CA369862673 | KCNH2 | n.1572C>T c.739C>T (p.Gln247Ter) c.391C>T (p.Gln131Ter) n.962C>T c.439C>T (p.Gln147Ter) c.589C>T (p.Gln197Ter) c.562C>T (p.Gln188Ter) | gnomAD v4 |
7 | g.150958236G>C | CA369862674 | KCNH2 | n.1572C>G c.739C>G (p.Gln247Glu) c.391C>G (p.Gln131Glu) n.962C>G c.439C>G (p.Gln147Glu) c.589C>G (p.Gln197Glu) c.562C>G (p.Gln188Glu) | |
7 | g.150958236G>T | CA369862675 | KCNH2 | n.1572C>A c.739C>A (p.Gln247Lys) c.391C>A (p.Gln131Lys) n.962C>A c.439C>A (p.Gln147Lys) c.589C>A (p.Gln197Lys) c.562C>A (p.Gln188Lys) | gnomAD v4 |
7 | g.150958237G>A | CA458872126 | KCNH2 | n.1571C>T c.738C>T (p.Gly246=) c.390C>T (p.Gly130=) n.961C>T c.438C>T (p.Gly146=) c.588C>T (p.Gly196=) c.561C>T (p.Gly187=) | ClinVar gnomAD v4 |
7 | g.150958237G>C | CA458872128 | KCNH2 | n.1571C>G c.738C>G (p.Gly246=) c.390C>G (p.Gly130=) n.961C>G c.438C>G (p.Gly146=) c.588C>G (p.Gly196=) c.561C>G (p.Gly187=) | gnomAD v4 |
7 | g.150958237G= | CA1752418154 | KCNH2 | n.1571C= c.738C= (p.Gly246=) c.390C= (p.Gly130=) n.961C= c.438C= (p.Gly146=) c.588C= (p.Gly196=) c.561C= (p.Gly187=) | |
7 | g.150958237G>T | CA458872130 | KCNH2 | n.1571C>A c.738C>A (p.Gly246=) c.390C>A (p.Gly130=) n.961C>A c.438C>A (p.Gly146=) c.588C>A (p.Gly196=) c.561C>A (p.Gly187=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958238C>A | CA369862676 | KCNH2 | n.1570G>T c.737G>T (p.Gly246Val) c.389G>T (p.Gly130Val) n.960G>T c.437G>T (p.Gly146Val) c.587G>T (p.Gly196Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
7 | g.150958238C>G | CA369862677 | KCNH2 | n.1570G>C c.737G>C (p.Gly246Ala) c.389G>C (p.Gly130Ala) n.960G>C c.437G>C (p.Gly146Ala) c.587G>C (p.Gly196Ala) c.560G>C (p.Gly187Ala) | gnomAD v4 |
7 | g.150958238C>T | CA369862678 | KCNH2 | n.1570G>A c.737G>A (p.Gly246Asp) c.389G>A (p.Gly130Asp) n.960G>A c.437G>A (p.Gly146Asp) c.587G>A (p.Gly196Asp) c.560G>A (p.Gly187Asp) | gnomAD v4 |
7 | g.150958239C>A | CA16605738 | KCNH2 | n.1569G>T c.736G>T (p.Gly246Cys) c.388G>T (p.Gly130Cys) n.959G>T c.436G>T (p.Gly146Cys) c.586G>T (p.Gly196Cys) c.559G>T (p.Gly187Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958239C= | CA1752418155 | KCNH2 | n.1569G= c.736G= (p.Gly246=) c.388G= (p.Gly130=) n.959G= c.436G= (p.Gly146=) c.586G= (p.Gly196=) c.559G= (p.Gly187=) | |
7 | g.150958239C>G | CA369862679 | KCNH2 | n.1569G>C c.736G>C (p.Gly246Arg) c.388G>C (p.Gly130Arg) n.959G>C c.436G>C (p.Gly146Arg) c.586G>C (p.Gly196Arg) c.559G>C (p.Gly187Arg) | gnomAD v4 |
7 | g.150958239C>T | CA369862680 | KCNH2 | n.1569G>A c.736G>A (p.Gly246Ser) c.388G>A (p.Gly130Ser) n.959G>A c.436G>A (p.Gly146Ser) c.586G>A (p.Gly196Ser) c.559G>A (p.Gly187Ser) | dbSNP gnomAD v4 |
7 | g.150958240G>A | CA072040 | KCNH2 | n.1568C>T c.735C>T (p.Pro245=) c.387C>T (p.Pro129=) n.958C>T c.435C>T (p.Pro145=) c.585C>T (p.Pro195=) c.558C>T (p.Pro186=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958240G>C | CA458872137 | KCNH2 | n.1568C>G c.735C>G (p.Pro245=) c.387C>G (p.Pro129=) n.958C>G c.435C>G (p.Pro145=) c.585C>G (p.Pro195=) c.558C>G (p.Pro186=) | gnomAD v4 |
7 | g.150958240G= | CA1752418159 | KCNH2 | n.1568C= c.735C= (p.Pro245=) c.387C= (p.Pro129=) n.958C= c.435C= (p.Pro145=) c.585C= (p.Pro195=) c.558C= (p.Pro186=) | |
7 | g.150958240G>T | CA458872138 | KCNH2 | n.1568C>A c.735C>A (p.Pro245=) c.387C>A (p.Pro129=) n.958C>A c.435C>A (p.Pro145=) c.585C>A (p.Pro195=) c.558C>A (p.Pro186=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958242dup | CA2580077691 | KCNH2 | n.1568dup c.735dup (p.Gly246ArgfsTer?) c.387dup (p.Gly130ArgfsTer?) n.958dup c.435dup (p.Gly146ArgfsTer?) c.585dup (p.Gly196ArgfsTer?) c.558dup (p.Gly187ArgfsTer?) | ClinVar |
7 | g.150958241_150958242dup | CA2695208638 | KCNH2 | n.1567_1568dup c.734_735dup (p.Gly246ProfsTer?) c.386_387dup (p.Gly130ProfsTer?) n.957_958dup c.434_435dup (p.Gly146ProfsTer?) c.584_585dup (p.Gly196ProfsTer?) c.557_558dup (p.Gly187ProfsTer?) | |
7 | g.150958242del | CA2685607855 | KCNH2 | n.1568del c.735del (p.Gly246AlafsTer?) c.387del (p.Gly130AlafsTer?) n.958del c.435del (p.Gly146AlafsTer?) c.585del (p.Gly196AlafsTer?) c.558del (p.Gly187AlafsTer?) | gnomAD v4 |
7 | g.150958241G>A | CA369862681 | KCNH2 | n.1567C>T c.734C>T (p.Pro245Leu) c.386C>T (p.Pro129Leu) n.957C>T c.434C>T (p.Pro145Leu) c.584C>T (p.Pro195Leu) c.557C>T (p.Pro186Leu) | gnomAD v4 |
7 | g.150958241G>C | CA369862682 | KCNH2 | n.1567C>G c.734C>G (p.Pro245Arg) c.386C>G (p.Pro129Arg) n.957C>G c.434C>G (p.Pro145Arg) c.584C>G (p.Pro195Arg) c.557C>G (p.Pro186Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958241G= | CA1752418161 | KCNH2 | n.1567C= c.734C= (p.Pro245=) c.386C= (p.Pro129=) n.957C= c.434C= (p.Pro145=) c.584C= (p.Pro195=) c.557C= (p.Pro186=) | |
7 | g.150958241G>T | CA369862683 | KCNH2 | n.1567C>A c.734C>A (p.Pro245His) c.386C>A (p.Pro129His) n.957C>A c.434C>A (p.Pro145His) c.584C>A (p.Pro195His) c.557C>A (p.Pro186His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958242G>A | CA369862686 | KCNH2 | n.1566C>T c.733C>T (p.Pro245Ser) c.385C>T (p.Pro129Ser) n.956C>T c.433C>T (p.Pro145Ser) c.583C>T (p.Pro195Ser) c.556C>T (p.Pro186Ser) | gnomAD v4 |
7 | g.150958242G>C | CA369862685 | KCNH2 | n.1566C>G c.733C>G (p.Pro245Ala) c.385C>G (p.Pro129Ala) n.956C>G c.433C>G (p.Pro145Ala) c.583C>G (p.Pro195Ala) c.556C>G (p.Pro186Ala) | |
7 | g.150958242G>T | CA369862684 | KCNH2 | n.1566C>A c.733C>A (p.Pro245Thr) c.385C>A (p.Pro129Thr) n.956C>A c.433C>A (p.Pro145Thr) c.583C>A (p.Pro195Thr) c.556C>A (p.Pro186Thr) | gnomAD v4 |
7 | g.150958242_150958243delinsGC | CA1752418163 | KCNH2 | n.1565_1566delinsGC c.732_733delinsGC (p.Ala244=) c.384_385delinsGC (p.Ala128=) n.955_956delinsGC c.432_433delinsGC (p.Ala144=) c.582_583delinsGC (p.Ala194=) c.555_556delinsGC (p.Ala185=) | |
7 | g.150958243del | CA008725 | KCNH2 | n.1565del c.732del (p.Gly246AlafsTer?) c.384del (p.Gly130AlafsTer?) n.955del c.432del (p.Gly146AlafsTer?) c.582del (p.Gly196AlafsTer?) c.555del (p.Gly187AlafsTer?) | ClinVar dbSNP |
7 | g.150958243C>A | CA458872144 | KCNH2 | n.1565G>T c.732G>T (p.Ala244=) c.384G>T (p.Ala128=) n.955G>T c.432G>T (p.Ala144=) c.582G>T (p.Ala194=) c.555G>T (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958243C= | CA1752418166 | KCNH2 | n.1565G= c.732G= (p.Ala244=) c.384G= (p.Ala128=) n.955G= c.432G= (p.Ala144=) c.582G= (p.Ala194=) c.555G= (p.Ala185=) | |
7 | g.150958243C>G | CA458872147 | KCNH2 | n.1565G>C c.732G>C (p.Ala244=) c.384G>C (p.Ala128=) n.955G>C c.432G>C (p.Ala144=) c.582G>C (p.Ala194=) c.555G>C (p.Ala185=) | gnomAD v4 |
7 | g.150958243C>T | CA458872148 | KCNH2 | n.1565G>A c.732G>A (p.Ala244=) c.384G>A (p.Ala128=) n.955G>A c.432G>A (p.Ala144=) c.582G>A (p.Ala194=) c.555G>A (p.Ala185=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958244G>A | CA16612195 | KCNH2 | n.1564C>T c.731C>T (p.Ala244Val) c.383C>T (p.Ala128Val) n.954C>T c.431C>T (p.Ala144Val) c.581C>T (p.Ala194Val) c.554C>T (p.Ala185Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150958244G>C | CA040295 | KCNH2 | n.1564C>G c.731C>G (p.Ala244Gly) c.383C>G (p.Ala128Gly) n.954C>G c.431C>G (p.Ala144Gly) c.581C>G (p.Ala194Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958244G= | CA1752418173 | KCNH2 | n.1564C= c.731C= (p.Ala244=) c.383C= (p.Ala128=) n.954C= c.431C= (p.Ala144=) c.581C= (p.Ala194=) c.554C= (p.Ala185=) | |
7 | g.150958244G>T | CA369862687 | KCNH2 | n.1564C>A c.731C>A (p.Ala244Glu) c.383C>A (p.Ala128Glu) n.954C>A c.431C>A (p.Ala144Glu) c.581C>A (p.Ala194Glu) c.554C>A (p.Ala185Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958245C>A | CA369862688 | KCNH2 | n.1563G>T c.730G>T (p.Ala244Ser) c.382G>T (p.Ala128Ser) n.953G>T c.430G>T (p.Ala144Ser) c.580G>T (p.Ala194Ser) c.553G>T (p.Ala185Ser) | gnomAD v4 |
7 | g.150958245C= | CA1752418181 | KCNH2 | n.1563G= c.730G= (p.Ala244=) c.382G= (p.Ala128=) n.953G= c.430G= (p.Ala144=) c.580G= (p.Ala194=) c.553G= (p.Ala185=) | |
7 | g.150958245C>G | CA369862689 | KCNH2 | n.1563G>C c.730G>C (p.Ala244Pro) c.382G>C (p.Ala128Pro) n.953G>C c.430G>C (p.Ala144Pro) c.580G>C (p.Ala194Pro) c.553G>C (p.Ala185Pro) | |
7 | g.150958245C>T | CA369862690 | KCNH2 | n.1563G>A c.730G>A (p.Ala244Thr) c.382G>A (p.Ala128Thr) n.953G>A c.430G>A (p.Ala144Thr) c.580G>A (p.Ala194Thr) c.553G>A (p.Ala185Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958246G>A | CA336005 | KCNH2 | n.1562C>T c.729C>T (p.Ser243=) c.381C>T (p.Ser127=) n.952C>T c.429C>T (p.Ser143=) c.579C>T (p.Ser193=) c.552C>T (p.Ser184=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958246G>C | CA369862691 | KCNH2 | n.1562C>G c.729C>G (p.Ser243Arg) c.381C>G (p.Ser127Arg) n.952C>G c.429C>G (p.Ser143Arg) c.579C>G (p.Ser193Arg) c.552C>G (p.Ser184Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958246G= | CA1752418185 | KCNH2 | n.1562C= c.729C= (p.Ser243=) c.381C= (p.Ser127=) n.952C= c.429C= (p.Ser143=) c.579C= (p.Ser193=) c.552C= (p.Ser184=) | |
7 | g.150958246G>T | CA369862692 | KCNH2 | n.1562C>A c.729C>A (p.Ser243Arg) c.381C>A (p.Ser127Arg) n.952C>A c.429C>A (p.Ser143Arg) c.579C>A (p.Ser193Arg) c.552C>A (p.Ser184Arg) | ClinVar gnomAD v4 |
7 | g.150958247C>A | CA369862693 | KCNH2 | n.1561G>T c.728G>T (p.Ser243Ile) c.380G>T (p.Ser127Ile) n.951G>T c.428G>T (p.Ser143Ile) c.578G>T (p.Ser193Ile) c.551G>T (p.Ser184Ile) | gnomAD v4 |
7 | g.150958247C= | CA1752418190 | KCNH2 | n.1561G= c.728G= (p.Ser243=) c.380G= (p.Ser127=) n.951G= c.428G= (p.Ser143=) c.578G= (p.Ser193=) c.551G= (p.Ser184=) | |
7 | g.150958247C>G | CA369862694 | KCNH2 | n.1561G>C c.728G>C (p.Ser243Thr) c.380G>C (p.Ser127Thr) n.951G>C c.428G>C (p.Ser143Thr) c.578G>C (p.Ser193Thr) c.551G>C (p.Ser184Thr) | |
7 | g.150958247C>T | CA369862695 | KCNH2 | n.1561G>A c.728G>A (p.Ser243Asn) c.380G>A (p.Ser127Asn) n.951G>A c.428G>A (p.Ser143Asn) c.578G>A (p.Ser193Asn) c.551G>A (p.Ser184Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958248T>A | CA369862698 | KCNH2 | n.1560A>T c.727A>T (p.Ser243Cys) c.379A>T (p.Ser127Cys) n.950A>T c.427A>T (p.Ser143Cys) c.577A>T (p.Ser193Cys) c.550A>T (p.Ser184Cys) | |
7 | g.150958248T>C | CA369862696 | KCNH2 | n.1560A>G c.727A>G (p.Ser243Gly) c.379A>G (p.Ser127Gly) n.950A>G c.427A>G (p.Ser143Gly) c.577A>G (p.Ser193Gly) c.550A>G (p.Ser184Gly) | gnomAD v4 |
7 | g.150958248T>G | CA369862697 | KCNH2 | n.1560A>C c.727A>C (p.Ser243Arg) c.379A>C (p.Ser127Arg) n.950A>C c.427A>C (p.Ser143Arg) c.577A>C (p.Ser193Arg) c.550A>C (p.Ser184Arg) | |
7 | g.150958249G>A | CA458872167 | KCNH2 | n.1559C>T c.726C>T (p.Arg242=) c.378C>T (p.Arg126=) n.949C>T c.426C>T (p.Arg142=) c.576C>T (p.Arg192=) c.549C>T (p.Arg183=) | ClinVar gnomAD v4 |
7 | g.150958249G>C | CA458872166 | KCNH2 | n.1559C>G c.726C>G (p.Arg242=) c.378C>G (p.Arg126=) n.949C>G c.426C>G (p.Arg142=) c.576C>G (p.Arg192=) c.549C>G (p.Arg183=) | |
7 | g.150958249G>T | CA458872165 | KCNH2 | n.1559C>A c.726C>A (p.Arg242=) c.378C>A (p.Arg126=) n.949C>A c.426C>A (p.Arg142=) c.576C>A (p.Arg192=) c.549C>A (p.Arg183=) | gnomAD v4 |
7 | g.150958249_150958250delinsGC | CA1752418195 | KCNH2 | n.1558_1559delinsGC c.725_726delinsGC (p.Arg242=) c.377_378delinsGC (p.Arg126=) n.948_949delinsGC c.425_426delinsGC (p.Arg142=) c.575_576delinsGC (p.Arg192=) c.548_549delinsGC (p.Arg183=) | |
7 | g.150958249_150958250delinsTT | CA658656014 | KCNH2 | n.1558_1559delinsAA c.725_726delinsAA (p.Arg242Gln) c.377_378delinsAA (p.Arg126Gln) n.948_949delinsAA c.425_426delinsAA (p.Arg142Gln) c.575_576delinsAA (p.Arg192Gln) c.548_549delinsAA (p.Arg183Gln) | ClinVar dbSNP |
7 | g.150958250del | CA2685607920 | KCNH2 | n.1558del c.725del (p.Arg242ProfsTer?) c.377del (p.Arg126ProfsTer?) n.948del c.425del (p.Arg142ProfsTer?) c.575del (p.Arg192ProfsTer?) c.548del (p.Arg183ProfsTer?) | gnomAD v4 |
7 | g.150958250C>A | CA369862699 | KCNH2 | n.1558G>T c.725G>T (p.Arg242Leu) c.377G>T (p.Arg126Leu) n.948G>T c.425G>T (p.Arg142Leu) c.575G>T (p.Arg192Leu) c.548G>T (p.Arg183Leu) | gnomAD v4 |
7 | g.150958250C>G | CA369862700 | KCNH2 | n.1558G>C c.725G>C (p.Arg242Pro) c.377G>C (p.Arg126Pro) n.948G>C c.425G>C (p.Arg142Pro) c.575G>C (p.Arg192Pro) c.548G>C (p.Arg183Pro) | |
7 | g.150958250C>T | CA369862702 | KCNH2 | n.1558G>A c.725G>A (p.Arg242His) c.377G>A (p.Arg126His) n.948G>A c.425G>A (p.Arg142His) c.575G>A (p.Arg192His) c.548G>A (p.Arg183His) | gnomAD v4 |
7 | g.150958251G>A | CA369862704 | KCNH2 | n.1557C>T c.724C>T (p.Arg242Cys) c.376C>T (p.Arg126Cys) n.947C>T c.424C>T (p.Arg142Cys) c.574C>T (p.Arg192Cys) c.547C>T (p.Arg183Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958251G>C | CA008718 | KCNH2 | n.1557C>G c.724C>G (p.Arg242Gly) c.376C>G (p.Arg126Gly) n.947C>G c.424C>G (p.Arg142Gly) c.574C>G (p.Arg192Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150958251G= | CA1752418199 | KCNH2 | n.1557C= c.724C= (p.Arg242=) c.376C= (p.Arg126=) n.947C= c.424C= (p.Arg142=) c.574C= (p.Arg192=) c.547C= (p.Arg183=) | |
7 | g.150958251G>T | CA369862707 | KCNH2 | n.1557C>A c.724C>A (p.Arg242Ser) c.376C>A (p.Arg126Ser) n.947C>A c.424C>A (p.Arg142Ser) c.574C>A (p.Arg192Ser) c.547C>A (p.Arg183Ser) | dbSNP gnomAD v4 |
7 | g.150958254dup | CA658761341 | KCNH2 | n.1557dup c.724dup (p.Arg242ProfsTer?) c.376dup (p.Arg126ProfsTer?) n.947dup c.424dup (p.Arg142ProfsTer?) c.574dup (p.Arg192ProfsTer?) c.547dup (p.Arg183ProfsTer?) | |
7 | g.150958254del | CA2685607926 | KCNH2 | n.1557del c.724del (p.Arg242AlafsTer?) c.376del (p.Arg126AlafsTer?) n.947del c.424del (p.Arg142AlafsTer?) c.574del (p.Arg192AlafsTer?) c.547del (p.Arg183AlafsTer?) | gnomAD v4 |
7 | g.150958252G>A | CA458872171 | KCNH2 | n.1556C>T c.723C>T (p.Pro241=) c.375C>T (p.Pro125=) n.946C>T c.423C>T (p.Pro141=) c.573C>T (p.Pro191=) c.546C>T (p.Pro182=) | ClinVar gnomAD v4 |
7 | g.150958252G>C | CA458872173 | KCNH2 | n.1556C>G c.723C>G (p.Pro241=) c.375C>G (p.Pro125=) n.946C>G c.423C>G (p.Pro141=) c.573C>G (p.Pro191=) c.546C>G (p.Pro182=) | |
7 | g.150958252G>T | CA458872172 | KCNH2 | n.1556C>A c.723C>A (p.Pro241=) c.375C>A (p.Pro125=) n.946C>A c.423C>A (p.Pro141=) c.573C>A (p.Pro191=) c.546C>A (p.Pro182=) | gnomAD v4 |
7 | g.150958253G>A | CA008711 | KCNH2 | n.1555C>T c.722C>T (p.Pro241Leu) c.374C>T (p.Pro125Leu) n.945C>T c.422C>T (p.Pro141Leu) c.572C>T (p.Pro191Leu) c.545C>T (p.Pro182Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150958253G>C | CA369862710 | KCNH2 | n.1555C>G c.722C>G (p.Pro241Arg) c.374C>G (p.Pro125Arg) n.945C>G c.422C>G (p.Pro141Arg) c.572C>G (p.Pro191Arg) c.545C>G (p.Pro182Arg) | dbSNP gnomAD v4 |
7 | g.150958253G= | CA1752418209 | KCNH2 | n.1555C= c.722C= (p.Pro241=) c.374C= (p.Pro125=) n.945C= c.422C= (p.Pro141=) c.572C= (p.Pro191=) c.545C= (p.Pro182=) | |
7 | g.150958253G>T | CA369862712 | KCNH2 | n.1555C>A c.722C>A (p.Pro241His) c.374C>A (p.Pro125His) n.945C>A c.422C>A (p.Pro141His) c.572C>A (p.Pro191His) c.545C>A (p.Pro182His) | gnomAD v4 |
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.150958254G>A | CA040287 | KCNH2 | n.1554C>T c.721C>T (p.Pro241Ser) c.373C>T (p.Pro125Ser) n.944C>T c.421C>T (p.Pro141Ser) c.571C>T (p.Pro191Ser) c.544C>T (p.Pro182Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150958254G>C | CA369862714 | KCNH2 | n.1554C>G c.721C>G (p.Pro241Ala) c.373C>G (p.Pro125Ala) n.944C>G c.421C>G (p.Pro141Ala) c.571C>G (p.Pro191Ala) c.544C>G (p.Pro182Ala) | |
7 | g.150958254G= | CA1752418212 | KCNH2 | n.1554C= c.721C= (p.Pro241=) c.373C= (p.Pro125=) n.944C= c.421C= (p.Pro141=) c.571C= (p.Pro191=) c.544C= (p.Pro182=) | |
7 | g.150958254G>T | CA369862716 | KCNH2 | n.1554C>A c.721C>A (p.Pro241Thr) c.373C>A (p.Pro125Thr) n.944C>A c.421C>A (p.Pro141Thr) c.571C>A (p.Pro191Thr) c.544C>A (p.Pro182Thr) | gnomAD v4 |
7 | g.150958255del | CA2685607962 | KCNH2 | n.1553del c.720del (p.Arg242AlafsTer?) c.372del (p.Arg126AlafsTer?) n.943del c.420del (p.Arg142AlafsTer?) c.570del (p.Arg192AlafsTer?) c.543del (p.Arg183AlafsTer?) | gnomAD v4 |
7 | g.150958255C>A | CA458872180 | KCNH2 | n.1553G>T c.720G>T (p.Pro240=) c.372G>T (p.Pro124=) n.943G>T c.420G>T (p.Pro140=) c.570G>T (p.Pro190=) c.543G>T (p.Pro181=) | dbSNP gnomAD v4 |
7 | g.150958255C= | CA1752418216 | KCNH2 | n.1553G= c.720G= (p.Pro240=) c.372G= (p.Pro124=) n.943G= c.420G= (p.Pro140=) c.570G= (p.Pro190=) c.543G= (p.Pro181=) | |
7 | g.150958255C>G | CA458872181 | KCNH2 | n.1553G>C c.720G>C (p.Pro240=) c.372G>C (p.Pro124=) n.943G>C c.420G>C (p.Pro140=) c.570G>C (p.Pro190=) c.543G>C (p.Pro181=) | ClinVar dbSNP |
7 | g.150958255C>T | CA16612197 | KCNH2 | n.1553G>A c.720G>A (p.Pro240=) c.372G>A (p.Pro124=) n.943G>A c.420G>A (p.Pro140=) c.570G>A (p.Pro190=) c.543G>A (p.Pro181=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958256G>A | CA008703 | KCNH2 | n.1552C>T c.719C>T (p.Pro240Leu) c.371C>T (p.Pro124Leu) n.942C>T c.419C>T (p.Pro140Leu) c.569C>T (p.Pro190Leu) c.542C>T (p.Pro181Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958256G>C | CA369862721 | KCNH2 | n.1552C>G c.719C>G (p.Pro240Arg) c.371C>G (p.Pro124Arg) n.942C>G c.419C>G (p.Pro140Arg) c.569C>G (p.Pro190Arg) c.542C>G (p.Pro181Arg) | |
7 | g.150958256G= | CA1752418224 | KCNH2 | n.1552C= c.719C= (p.Pro240=) c.371C= (p.Pro124=) n.942C= c.419C= (p.Pro140=) c.569C= (p.Pro190=) c.542C= (p.Pro181=) | |
7 | g.150958256G>T | CA369862719 | KCNH2 | n.1552C>A c.719C>A (p.Pro240Gln) c.371C>A (p.Pro124Gln) n.942C>A c.419C>A (p.Pro140Gln) c.569C>A (p.Pro190Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
7 | g.150958257_150958261del | CA2695208639 | KCNH2 | n.1548_1552del c.715_719del (p.Ser239AlafsTer?) c.367_371del (p.Ser123AlafsTer?) n.938_942del c.415_419del (p.Ser139AlafsTer?) c.565_569del (p.Ser189AlafsTer?) c.538_542del (p.Ser180AlafsTer?) | |
7 | g.150958257G>A | CA369862726 | KCNH2 | n.1551C>T c.718C>T (p.Pro240Ser) c.370C>T (p.Pro124Ser) n.941C>T c.418C>T (p.Pro140Ser) c.568C>T (p.Pro190Ser) c.541C>T (p.Pro181Ser) | dbSNP gnomAD v4 |
7 | g.150958257G>C | CA369862723 | KCNH2 | n.1551C>G c.718C>G (p.Pro240Ala) c.370C>G (p.Pro124Ala) n.941C>G c.418C>G (p.Pro140Ala) c.568C>G (p.Pro190Ala) c.541C>G (p.Pro181Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958257G= | CA1752418227 | KCNH2 | n.1551C= c.718C= (p.Pro240=) c.370C= (p.Pro124=) n.941C= c.418C= (p.Pro140=) c.568C= (p.Pro190=) c.541C= (p.Pro181=) | |
7 | g.150958257G>T | CA369862725 | KCNH2 | n.1551C>A c.718C>A (p.Pro240Thr) c.370C>A (p.Pro124Thr) n.941C>A c.418C>A (p.Pro140Thr) c.568C>A (p.Pro190Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
7 | g.150958258del | CA2685607981 | KCNH2 | n.1550del c.717del (p.Pro240ArgfsTer?) c.369del (p.Pro124ArgfsTer?) n.940del c.417del (p.Pro140ArgfsTer?) c.567del (p.Pro190ArgfsTer?) c.540del (p.Pro181ArgfsTer?) | gnomAD v4 |
7 | g.150958258A>C | CA458872186 | KCNH2 | n.1550T>G c.717T>G (p.Ser239=) c.369T>G (p.Ser123=) n.940T>G c.417T>G (p.Ser139=) c.567T>G (p.Ser189=) c.540T>G (p.Ser180=) | |
7 | g.150958258A>G | CA458872193 | KCNH2 | n.1550T>C c.717T>C (p.Ser239=) c.369T>C (p.Ser123=) n.940T>C c.417T>C (p.Ser139=) c.567T>C (p.Ser189=) c.540T>C (p.Ser180=) | gnomAD v4 |
7 | g.150958258A>T | CA458872195 | KCNH2 | n.1550T>A c.717T>A (p.Ser239=) c.369T>A (p.Ser123=) n.940T>A c.417T>A (p.Ser139=) c.567T>A (p.Ser189=) c.540T>A (p.Ser180=) | |
7 | g.150958259G>A | CA369862729 | KCNH2 | n.1549C>T c.716C>T (p.Ser239Phe) c.368C>T (p.Ser123Phe) n.939C>T c.416C>T (p.Ser139Phe) c.566C>T (p.Ser189Phe) c.539C>T (p.Ser180Phe) | gnomAD v4 |
7 | g.150958259G>C | CA369862730 | KCNH2 | n.1549C>G c.716C>G (p.Ser239Cys) c.368C>G (p.Ser123Cys) n.939C>G c.416C>G (p.Ser139Cys) c.566C>G (p.Ser189Cys) c.539C>G (p.Ser180Cys) | gnomAD v4 |
7 | g.150958259G= | CA1752418230 | KCNH2 | n.1549C= c.716C= (p.Ser239=) c.368C= (p.Ser123=) n.939C= c.416C= (p.Ser139=) c.566C= (p.Ser189=) c.539C= (p.Ser180=) | |
7 | g.150958259G>T | CA369862731 | KCNH2 | n.1549C>A c.716C>A (p.Ser239Tyr) c.368C>A (p.Ser123Tyr) n.939C>A c.416C>A (p.Ser139Tyr) c.566C>A (p.Ser189Tyr) c.539C>A (p.Ser180Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958260A>C | CA369862734 | KCNH2 | n.1548T>G c.715T>G (p.Ser239Ala) c.367T>G (p.Ser123Ala) n.938T>G c.415T>G (p.Ser139Ala) c.565T>G (p.Ser189Ala) c.538T>G (p.Ser180Ala) | |
7 | g.150958260A>G | CA369862735 | KCNH2 | n.1548T>C c.715T>C (p.Ser239Pro) c.367T>C (p.Ser123Pro) n.938T>C c.415T>C (p.Ser139Pro) c.565T>C (p.Ser189Pro) c.538T>C (p.Ser180Pro) | gnomAD v4 |
7 | g.150958260A>T | CA369862737 | KCNH2 | n.1548T>A c.715T>A (p.Ser239Thr) c.367T>A (p.Ser123Thr) n.938T>A c.415T>A (p.Ser139Thr) c.565T>A (p.Ser189Thr) c.538T>A (p.Ser180Thr) | |
7 | g.150958261G>A | CA458872199 | KCNH2 | n.1547C>T c.714C>T (p.Gly238=) c.366C>T (p.Gly122=) n.937C>T c.414C>T (p.Gly138=) c.564C>T (p.Gly188=) c.537C>T (p.Gly179=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958261G>C | CA458872200 | KCNH2 | n.1547C>G c.714C>G (p.Gly238=) c.366C>G (p.Gly122=) n.937C>G c.414C>G (p.Gly138=) c.564C>G (p.Gly188=) c.537C>G (p.Gly179=) | gnomAD v4 |
7 | g.150958261G= | CA1752418233 | KCNH2 | n.1547C= c.714C= (p.Gly238=) c.366C= (p.Gly122=) n.937C= c.414C= (p.Gly138=) c.564C= (p.Gly188=) c.537C= (p.Gly179=) | |
7 | g.150958261G>T | CA458872201 | KCNH2 | n.1547C>A c.714C>A (p.Gly238=) c.366C>A (p.Gly122=) n.937C>A c.414C>A (p.Gly138=) c.564C>A (p.Gly188=) c.537C>A (p.Gly179=) | gnomAD v4 |
7 | g.150958262C>A | CA369862739 | KCNH2 | n.1546G>T c.713G>T (p.Gly238Val) c.365G>T (p.Gly122Val) n.936G>T c.413G>T (p.Gly138Val) c.563G>T (p.Gly188Val) c.536G>T (p.Gly179Val) | gnomAD v4 |
7 | g.150958262C= | CA1752418236 | KCNH2 | n.1546G= c.713G= (p.Gly238=) c.365G= (p.Gly122=) n.936G= c.413G= (p.Gly138=) c.563G= (p.Gly188=) c.536G= (p.Gly179=) | |
7 | g.150958262C>G | CA369862741 | KCNH2 | n.1546G>C c.713G>C (p.Gly238Ala) c.365G>C (p.Gly122Ala) n.936G>C c.413G>C (p.Gly138Ala) c.563G>C (p.Gly188Ala) c.536G>C (p.Gly179Ala) | |
7 | g.150958262C>T | CA169081297 | KCNH2 | n.1546G>A c.713G>A (p.Gly238Asp) c.365G>A (p.Gly122Asp) n.936G>A c.413G>A (p.Gly138Asp) c.563G>A (p.Gly188Asp) c.536G>A (p.Gly179Asp) | dbSNP gnomAD v2 gnomAD v3 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) | |
7 | g.150958275G>A | CA458872231 | KCNH2 | n.1533C>T c.700C>T (p.Leu234=) c.352C>T (p.Leu118=) n.923C>T c.400C>T (p.Leu134=) c.550C>T (p.Leu184=) c.523C>T (p.Leu175=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958275G>C | CA369862786 | KCNH2 | n.1533C>G c.700C>G (p.Leu234Val) c.352C>G (p.Leu118Val) n.923C>G c.400C>G (p.Leu134Val) c.550C>G (p.Leu184Val) c.523C>G (p.Leu175Val) | |
7 | g.150958275G= | CA1752418273 | KCNH2 | n.1533C= c.700C= (p.Leu234=) c.352C= (p.Leu118=) n.923C= c.400C= (p.Leu134=) c.550C= (p.Leu184=) c.523C= (p.Leu175=) | |
7 | g.150958275G>T | CA369862788 | KCNH2 | n.1533C>A c.700C>A (p.Leu234Met) c.352C>A (p.Leu118Met) n.923C>A c.400C>A (p.Leu134Met) c.550C>A (p.Leu184Met) c.523C>A (p.Leu175Met) | gnomAD v4 |
7 | g.150958277_150958278del | CA071898 | KCNH2 | n.1532_1533del c.699_700del (p.Leu234GlyfsTer?) c.351_352del (p.Leu118GlyfsTer?) n.922_923del c.399_400del (p.Leu134GlyfsTer?) c.549_550del (p.Leu184GlyfsTer?) c.522_523del (p.Leu175GlyfsTer?) | |
7 | g.150958277_150958282del | CA2499218807 | KCNH2 | n.1528_1533del c.695_700del (p.Arg232_Ala233del) c.347_352del (p.Arg116_Ala117del) n.918_923del c.395_400del (p.Arg132_Ala133del) c.545_550del (p.Arg182_Ala183del) c.518_523del (p.Arg173_Ala174del) | ClinVar dbSNP |
7 | g.150958276C>A | CA458872232 | KCNH2 | n.1532G>T c.699G>T (p.Ala233=) c.351G>T (p.Ala117=) n.922G>T c.399G>T (p.Ala133=) c.549G>T (p.Ala183=) c.522G>T (p.Ala174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958276C= | CA1752418277 | KCNH2 | n.1532G= c.699G= (p.Ala233=) c.351G= (p.Ala117=) n.922G= c.399G= (p.Ala133=) c.549G= (p.Ala183=) c.522G= (p.Ala174=) | |
7 | g.150958276C>G | CA458872233 | KCNH2 | n.1532G>C c.699G>C (p.Ala233=) c.351G>C (p.Ala117=) n.922G>C c.399G>C (p.Ala133=) c.549G>C (p.Ala183=) c.522G>C (p.Ala174=) | |
7 | g.150958276C>T | CA458872234 | KCNH2 | n.1532G>A c.699G>A (p.Ala233=) c.351G>A (p.Ala117=) n.922G>A c.399G>A (p.Ala133=) c.549G>A (p.Ala183=) c.522G>A (p.Ala174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958277G>A | CA369862789 | KCNH2 | n.1531C>T c.698C>T (p.Ala233Val) c.350C>T (p.Ala117Val) n.921C>T c.398C>T (p.Ala133Val) c.548C>T (p.Ala183Val) c.521C>T (p.Ala174Val) | gnomAD v4 |
7 | g.150958277G>C | CA369862791 | KCNH2 | n.1531C>G c.698C>G (p.Ala233Gly) c.350C>G (p.Ala117Gly) n.921C>G c.398C>G (p.Ala133Gly) c.548C>G (p.Ala183Gly) c.521C>G (p.Ala174Gly) | gnomAD v4 |
7 | g.150958277G>T | CA369862793 | KCNH2 | n.1531C>A c.698C>A (p.Ala233Glu) c.350C>A (p.Ala117Glu) n.921C>A c.398C>A (p.Ala133Glu) c.548C>A (p.Ala183Glu) c.521C>A (p.Ala174Glu) | gnomAD v4 |
7 | g.150958278C>A | CA040247 | KCNH2 | n.1530G>T c.697G>T (p.Ala233Ser) c.349G>T (p.Ala117Ser) n.920G>T c.397G>T (p.Ala133Ser) c.547G>T (p.Ala183Ser) c.520G>T (p.Ala174Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958278C= | CA1752418284 | KCNH2 | n.1530G= c.697G= (p.Ala233=) c.349G= (p.Ala117=) n.920G= c.397G= (p.Ala133=) c.547G= (p.Ala183=) c.520G= (p.Ala174=) | |
7 | g.150958278C>G | CA369862796 | KCNH2 | n.1530G>C c.697G>C (p.Ala233Pro) c.349G>C (p.Ala117Pro) n.920G>C c.397G>C (p.Ala133Pro) c.547G>C (p.Ala183Pro) c.520G>C (p.Ala174Pro) | gnomAD v4 |
7 | g.150958278C>T | CA369862798 | KCNH2 | n.1530G>A c.697G>A (p.Ala233Thr) c.349G>A (p.Ala117Thr) n.920G>A c.397G>A (p.Ala133Thr) c.547G>A (p.Ala183Thr) c.520G>A (p.Ala174Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958279A= | CA1752418291 | KCNH2 | n.1529T= c.696T= (p.Arg232=) c.348T= (p.Arg116=) n.919T= c.396T= (p.Arg132=) c.546T= (p.Arg182=) c.519T= (p.Arg173=) | |
7 | g.150958279A>C | CA458872240 | KCNH2 | n.1529T>G c.696T>G (p.Arg232=) c.348T>G (p.Arg116=) n.919T>G c.396T>G (p.Arg132=) c.546T>G (p.Arg182=) c.519T>G (p.Arg173=) | |
7 | g.150958279A>G | CA169081312 | KCNH2 | n.1529T>C c.696T>C (p.Arg232=) c.348T>C (p.Arg116=) n.919T>C c.396T>C (p.Arg132=) c.546T>C (p.Arg182=) c.519T>C (p.Arg173=) | dbSNP gnomAD v4 |
7 | g.150958279A>T | CA458872242 | KCNH2 | n.1529T>A c.696T>A (p.Arg232=) c.348T>A (p.Arg116=) n.919T>A c.396T>A (p.Arg132=) c.546T>A (p.Arg182=) c.519T>A (p.Arg173=) | |
7 | g.150958280C>A | CA10587638 | KCNH2 | n.1528G>T c.695G>T (p.Arg232Leu) c.347G>T (p.Arg116Leu) n.918G>T c.395G>T (p.Arg132Leu) c.545G>T (p.Arg182Leu) c.518G>T (p.Arg173Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958280C= | CA1752418296 | KCNH2 | n.1528G= c.695G= (p.Arg232=) c.347G= (p.Arg116=) n.918G= c.395G= (p.Arg132=) c.545G= (p.Arg182=) c.518G= (p.Arg173=) | |
7 | g.150958280C>G | CA169081316 | KCNH2 | n.1528G>C c.695G>C (p.Arg232Pro) c.347G>C (p.Arg116Pro) n.918G>C c.395G>C (p.Arg132Pro) c.545G>C (p.Arg182Pro) c.518G>C (p.Arg173Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958280C>T | CA369862800 | KCNH2 | n.1528G>A c.695G>A (p.Arg232His) c.347G>A (p.Arg116His) n.918G>A c.395G>A (p.Arg132His) c.545G>A (p.Arg182His) c.518G>A (p.Arg173His) | gnomAD v4 |
7 | g.150958281G>A | CA169081320 | KCNH2 | n.1527C>T c.694C>T (p.Arg232Cys) c.346C>T (p.Arg116Cys) n.917C>T c.394C>T (p.Arg132Cys) c.544C>T (p.Arg182Cys) c.517C>T (p.Arg173Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958281G>C | CA369862805 | KCNH2 | n.1527C>G c.694C>G (p.Arg232Gly) c.346C>G (p.Arg116Gly) n.917C>G c.394C>G (p.Arg132Gly) c.544C>G (p.Arg182Gly) c.517C>G (p.Arg173Gly) | gnomAD v4 |
7 | g.150958281G= | CA1752418302 | KCNH2 | n.1527C= c.694C= (p.Arg232=) c.346C= (p.Arg116=) n.917C= c.394C= (p.Arg132=) c.544C= (p.Arg182=) c.517C= (p.Arg173=) | |
7 | g.150958281G>T | CA369862806 | KCNH2 | n.1527C>A c.694C>A (p.Arg232Ser) c.346C>A (p.Arg116Ser) n.917C>A c.394C>A (p.Arg132Ser) c.544C>A (p.Arg182Ser) c.517C>A (p.Arg173Ser) | gnomAD v4 |
7 | g.150958282C>A | CA458872262 | KCNH2 | n.1526G>T c.693G>T (p.Arg231=) c.345G>T (p.Arg115=) n.916G>T c.393G>T (p.Arg131=) c.543G>T (p.Arg181=) c.516G>T (p.Arg172=) | gnomAD v4 |
7 | g.150958282C= | CA1752418307 | KCNH2 | n.1526G= c.693G= (p.Arg231=) c.345G= (p.Arg115=) n.916G= c.393G= (p.Arg131=) c.543G= (p.Arg181=) c.516G= (p.Arg172=) | |
7 | g.150958282C>G | CA458872256 | KCNH2 | n.1526G>C c.693G>C (p.Arg231=) c.345G>C (p.Arg115=) n.916G>C c.393G>C (p.Arg131=) c.543G>C (p.Arg181=) c.516G>C (p.Arg172=) | dbSNP |
7 | g.150958282C>T | CA458872258 | KCNH2 | n.1526G>A c.693G>A (p.Arg231=) c.345G>A (p.Arg115=) n.916G>A c.393G>A (p.Arg131=) c.543G>A (p.Arg181=) c.516G>A (p.Arg172=) | gnomAD v4 |
7 | g.150958283dup | CA2685608114 | KCNH2 | n.1526dup c.693dup (p.Arg232AlafsTer?) c.345dup (p.Arg116AlafsTer?) n.916dup c.393dup (p.Arg132AlafsTer?) c.543dup (p.Arg182AlafsTer?) c.516dup (p.Arg173AlafsTer?) | gnomAD v4 |
7 | g.150958283C>A | CA369862808 | KCNH2 | n.1525G>T c.692G>T (p.Arg231Leu) c.344G>T (p.Arg115Leu) n.915G>T c.392G>T (p.Arg131Leu) c.542G>T (p.Arg181Leu) c.515G>T (p.Arg172Leu) | ClinVar gnomAD v4 |
7 | g.150958283C= | CA1752418310 | KCNH2 | n.1525G= c.692G= (p.Arg231=) c.344G= (p.Arg115=) n.915G= c.392G= (p.Arg131=) c.542G= (p.Arg181=) c.515G= (p.Arg172=) | |
7 | g.150958283C>G | CA369862810 | KCNH2 | n.1525G>C c.692G>C (p.Arg231Pro) c.344G>C (p.Arg115Pro) n.915G>C c.392G>C (p.Arg131Pro) c.542G>C (p.Arg181Pro) c.515G>C (p.Arg172Pro) | |
7 | g.150958283C>T | CA369862812 | KCNH2 | n.1525G>A c.692G>A (p.Arg231Gln) c.344G>A (p.Arg115Gln) n.915G>A c.392G>A (p.Arg131Gln) c.542G>A (p.Arg181Gln) c.515G>A (p.Arg172Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958284G>A | CA369862814 | KCNH2 | n.1524C>T c.691C>T (p.Arg231Trp) c.343C>T (p.Arg115Trp) n.914C>T c.391C>T (p.Arg131Trp) c.541C>T (p.Arg181Trp) c.514C>T (p.Arg172Trp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958284G>C | CA369862816 | KCNH2 | n.1524C>G c.691C>G (p.Arg231Gly) c.343C>G (p.Arg115Gly) n.914C>G c.391C>G (p.Arg131Gly) c.541C>G (p.Arg181Gly) c.514C>G (p.Arg172Gly) | |
7 | g.150958284G= | CA1752418317 | KCNH2 | n.1524C= c.691C= (p.Arg231=) c.343C= (p.Arg115=) n.914C= c.391C= (p.Arg131=) c.541C= (p.Arg181=) c.514C= (p.Arg172=) | |
7 | g.150958284G>T | CA458872268 | KCNH2 | n.1524C>A c.691C>A (p.Arg231=) c.343C>A (p.Arg115=) n.914C>A c.391C>A (p.Arg131=) c.541C>A (p.Arg181=) c.514C>A (p.Arg172=) | gnomAD v4 |
7 | g.150958284_150958285delinsAA | CA916080380 | KCNH2 | n.1523_1524delinsTT c.690_691delinsTT (p.Glu230_Arg231delinsAspTrp) c.342_343delinsTT (p.Glu114_Arg115delinsAspTrp) n.913_914delinsTT c.390_391delinsTT (p.Glu130_Arg131delinsAspTrp) c.540_541delinsTT (p.Glu180_Arg181delinsAspTrp) c.513_514delinsTT (p.Glu171_Arg172delinsAspTrp) | ClinVar dbSNP |
7 | g.150958284_150958285delinsGC | CA1752418315 | KCNH2 | n.1523_1524delinsGC c.690_691delinsGC (p.Glu230=) c.342_343delinsGC (p.Glu114=) n.913_914delinsGC c.390_391delinsGC (p.Glu130=) c.540_541delinsGC (p.Glu180=) c.513_514delinsGC (p.Glu171=) | |
7 | g.150958285C>A | CA071891 | KCNH2 | n.1523G>T c.690G>T (p.Glu230Asp) c.342G>T (p.Glu114Asp) n.913G>T c.390G>T (p.Glu130Asp) c.540G>T (p.Glu180Asp) c.513G>T (p.Glu171Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958285C= | CA1752418320 | KCNH2 | n.1523G= c.690G= (p.Glu230=) c.342G= (p.Glu114=) n.913G= c.390G= (p.Glu130=) c.540G= (p.Glu180=) c.513G= (p.Glu171=) | |
7 | g.150958285C>G | CA369862818 | KCNH2 | n.1523G>C c.690G>C (p.Glu230Asp) c.342G>C (p.Glu114Asp) n.913G>C c.390G>C (p.Glu130Asp) c.540G>C (p.Glu180Asp) c.513G>C (p.Glu171Asp) | |
7 | g.150958285C>T | CA040234 | KCNH2 | n.1523G>A c.690G>A (p.Glu230=) c.342G>A (p.Glu114=) n.913G>A c.390G>A (p.Glu130=) c.540G>A (p.Glu180=) c.513G>A (p.Glu171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958286T>A | CA369862821 | KCNH2 | n.1522A>T c.689A>T (p.Glu230Val) c.341A>T (p.Glu114Val) n.912A>T c.389A>T (p.Glu130Val) c.539A>T (p.Glu180Val) c.512A>T (p.Glu171Val) | gnomAD v4 |
7 | g.150958286T>C | CA369862823 | KCNH2 | n.1522A>G c.689A>G (p.Glu230Gly) c.341A>G (p.Glu114Gly) n.912A>G c.389A>G (p.Glu130Gly) c.539A>G (p.Glu180Gly) c.512A>G (p.Glu171Gly) | gnomAD v4 |
7 | g.150958286T>G | CA369862824 | KCNH2 | n.1522A>C c.689A>C (p.Glu230Ala) c.341A>C (p.Glu114Ala) n.912A>C c.389A>C (p.Glu130Ala) c.539A>C (p.Glu180Ala) c.512A>C (p.Glu171Ala) | |
7 | g.150958287C>A | CA369862828 | KCNH2 | n.1521G>T c.688G>T (p.Glu230Ter) c.340G>T (p.Glu114Ter) n.911G>T c.388G>T (p.Glu130Ter) c.538G>T (p.Glu180Ter) c.511G>T (p.Glu171Ter) | ClinVar gnomAD v4 |
7 | g.150958287C>G | CA369862830 | KCNH2 | n.1521G>C c.688G>C (p.Glu230Gln) c.340G>C (p.Glu114Gln) n.911G>C c.388G>C (p.Glu130Gln) c.538G>C (p.Glu180Gln) c.511G>C (p.Glu171Gln) | |
7 | g.150958287C>T | CA369862826 | KCNH2 | n.1521G>A c.688G>A (p.Glu230Lys) c.340G>A (p.Glu114Lys) n.911G>A c.388G>A (p.Glu130Lys) c.538G>A (p.Glu180Lys) c.511G>A (p.Glu171Lys) | gnomAD v4 |
7 | g.150958288C>A | CA369862831 | KCNH2 | n.1520G>T c.687G>T (p.Glu229Asp) c.339G>T (p.Glu113Asp) n.910G>T c.387G>T (p.Glu129Asp) c.537G>T (p.Glu179Asp) c.510G>T (p.Glu170Asp) | ClinVar gnomAD v4 |
7 | g.150958288C= | CA1752418325 | KCNH2 | n.1520G= c.687G= (p.Glu229=) c.339G= (p.Glu113=) n.910G= c.387G= (p.Glu129=) c.537G= (p.Glu179=) c.510G= (p.Glu170=) | |
7 | g.150958288C>G | CA369862832 | KCNH2 | n.1520G>C c.687G>C (p.Glu229Asp) c.339G>C (p.Glu113Asp) n.910G>C c.387G>C (p.Glu129Asp) c.537G>C (p.Glu179Asp) c.510G>C (p.Glu170Asp) | |
7 | g.150958288C>T | CA071997 | KCNH2 | n.1520G>A c.687G>A (p.Glu229=) c.339G>A (p.Glu113=) n.910G>A c.387G>A (p.Glu129=) c.537G>A (p.Glu179=) c.510G>A (p.Glu170=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958289T>A | CA369862834 | KCNH2 | n.1519A>T c.686A>T (p.Glu229Val) c.338A>T (p.Glu113Val) n.909A>T c.386A>T (p.Glu129Val) c.536A>T (p.Glu179Val) c.509A>T (p.Glu170Val) | |
7 | g.150958289T>C | CA071886 | KCNH2 | n.1519A>G c.686A>G (p.Glu229Gly) c.338A>G (p.Glu113Gly) n.909A>G c.386A>G (p.Glu129Gly) c.536A>G (p.Glu179Gly) c.509A>G (p.Glu170Gly) | gnomAD v4 |
7 | g.150958289T>G | CA369862836 | KCNH2 | n.1519A>C c.686A>C (p.Glu229Ala) c.338A>C (p.Glu113Ala) n.909A>C c.386A>C (p.Glu129Ala) c.536A>C (p.Glu179Ala) c.509A>C (p.Glu170Ala) |