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.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.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.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) |