Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958298_150958372del | CA2685608128 | KCNH2 | n.1444_1518del c.611_685del (p.Ala204_Ala228del) c.263_337del (p.Ala88_Ala112del) n.834_908del c.311_385del (p.Ala104_Ala128del) c.461_535del (p.Ala154_Ala178del) c.434_508del (p.Ala145_Ala169del) | gnomAD v4 |
7 | g.150958318del | CA2685608280 | KCNH2 | n.1490del c.657del (p.Asp219GlufsTer?) c.309del (p.Asp103GlufsTer?) n.880del c.357del (p.Asp119GlufsTer?) c.507del (p.Asp169GlufsTer?) c.480del (p.Asp160GlufsTer?) | gnomAD v4 |
7 | g.150958318G>A | CA458872389 | KCNH2 | n.1490C>T c.657C>T (p.Asp219=) c.309C>T (p.Asp103=) n.880C>T c.357C>T (p.Asp119=) c.507C>T (p.Asp169=) c.480C>T (p.Asp160=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958318G>C | CA369862943 | KCNH2 | n.1490C>G c.657C>G (p.Asp219Glu) c.309C>G (p.Asp103Glu) n.880C>G c.357C>G (p.Asp119Glu) c.507C>G (p.Asp169Glu) c.480C>G (p.Asp160Glu) | |
7 | g.150958318G= | CA1752418400 | KCNH2 | n.1490C= c.657C= (p.Asp219=) c.309C= (p.Asp103=) n.880C= c.357C= (p.Asp119=) c.507C= (p.Asp169=) c.480C= (p.Asp160=) | |
7 | g.150958318G>T | CA369862944 | KCNH2 | n.1490C>A c.657C>A (p.Asp219Glu) c.309C>A (p.Asp103Glu) n.880C>A c.357C>A (p.Asp119Glu) c.507C>A (p.Asp169Glu) c.480C>A (p.Asp160Glu) | gnomAD v4 |
7 | g.150958319T>A | CA008651 | KCNH2 | n.1489A>T c.656A>T (p.Asp219Val) c.308A>T (p.Asp103Val) n.879A>T c.356A>T (p.Asp119Val) c.506A>T (p.Asp169Val) c.479A>T (p.Asp160Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150958319T>C | CA369862949 | KCNH2 | n.1489A>G c.656A>G (p.Asp219Gly) c.308A>G (p.Asp103Gly) n.879A>G c.356A>G (p.Asp119Gly) c.506A>G (p.Asp169Gly) c.479A>G (p.Asp160Gly) | gnomAD v4 |
7 | g.150958319T>G | CA369862947 | KCNH2 | n.1489A>C c.656A>C (p.Asp219Ala) c.308A>C (p.Asp103Ala) n.879A>C c.356A>C (p.Asp119Ala) c.506A>C (p.Asp169Ala) c.479A>C (p.Asp160Ala) | |
7 | g.150958319T= | CA1752418404 | KCNH2 | n.1489A= c.656A= (p.Asp219=) c.308A= (p.Asp103=) n.879A= c.356A= (p.Asp119=) c.506A= (p.Asp169=) c.479A= (p.Asp160=) | |
7 | g.150958320C>A | CA369862951 | KCNH2 | n.1488G>T c.655G>T (p.Asp219Tyr) c.307G>T (p.Asp103Tyr) n.878G>T c.355G>T (p.Asp119Tyr) c.505G>T (p.Asp169Tyr) c.478G>T (p.Asp160Tyr) | gnomAD v4 |
7 | g.150958320C= | CA1752418409 | KCNH2 | n.1488G= c.655G= (p.Asp219=) c.307G= (p.Asp103=) n.878G= c.355G= (p.Asp119=) c.505G= (p.Asp169=) c.478G= (p.Asp160=) | |
7 | g.150958320C>G | CA369862953 | KCNH2 | n.1488G>C c.655G>C (p.Asp219His) c.307G>C (p.Asp103His) n.878G>C c.355G>C (p.Asp119His) c.505G>C (p.Asp169His) c.478G>C (p.Asp160His) | gnomAD v4 |
7 | g.150958320C>T | CA369862954 | KCNH2 | n.1488G>A c.655G>A (p.Asp219Asn) c.307G>A (p.Asp103Asn) n.878G>A c.355G>A (p.Asp119Asn) c.505G>A (p.Asp169Asn) c.478G>A (p.Asp160Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.150958321del | CA458872397 | KCNH2 | n.1488del c.655del (p.Asp219ThrfsTer?) c.307del (p.Asp103ThrfsTer?) n.878del c.355del (p.Asp119ThrfsTer?) c.505del (p.Asp169ThrfsTer?) c.478del (p.Asp160ThrfsTer?) | COSMIC |
7 | g.150958321C>A | CA369862956 | KCNH2 | n.1487G>T c.654G>T (p.Met218Ile) c.306G>T (p.Met102Ile) n.877G>T c.354G>T (p.Met118Ile) c.504G>T (p.Met168Ile) c.477G>T (p.Met159Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958321C= | CA1752418417 | KCNH2 | n.1487G= c.654G= (p.Met218=) c.306G= (p.Met102=) n.877G= c.354G= (p.Met118=) c.504G= (p.Met168=) c.477G= (p.Met159=) | |
7 | g.150958321C>G | CA369862957 | KCNH2 | n.1487G>C c.654G>C (p.Met218Ile) c.306G>C (p.Met102Ile) n.877G>C c.354G>C (p.Met118Ile) c.504G>C (p.Met168Ile) c.477G>C (p.Met159Ile) | gnomAD v4 |
7 | g.150958321C>T | CA369862959 | KCNH2 | n.1487G>A c.654G>A (p.Met218Ile) c.306G>A (p.Met102Ile) n.877G>A c.354G>A (p.Met118Ile) c.504G>A (p.Met168Ile) c.477G>A (p.Met159Ile) | gnomAD v4 |
7 | g.150958322A>C | CA369862961 | KCNH2 | n.1486T>G c.653T>G (p.Met218Arg) c.305T>G (p.Met102Arg) n.876T>G c.353T>G (p.Met118Arg) c.503T>G (p.Met168Arg) c.476T>G (p.Met159Arg) | |
7 | g.150958322A>G | CA369862962 | KCNH2 | n.1486T>C c.653T>C (p.Met218Thr) c.305T>C (p.Met102Thr) n.876T>C c.353T>C (p.Met118Thr) c.503T>C (p.Met168Thr) c.476T>C (p.Met159Thr) | gnomAD v4 |
7 | g.150958322A>T | CA369862963 | KCNH2 | n.1486T>A c.653T>A (p.Met218Lys) c.305T>A (p.Met102Lys) n.876T>A c.353T>A (p.Met118Lys) c.503T>A (p.Met168Lys) c.476T>A (p.Met159Lys) | gnomAD v4 |
7 | g.150958323T>A | CA369862965 | KCNH2 | n.1485A>T c.652A>T (p.Met218Leu) c.304A>T (p.Met102Leu) n.875A>T c.352A>T (p.Met118Leu) c.502A>T (p.Met168Leu) c.475A>T (p.Met159Leu) | |
7 | g.150958323T>C | CA008645 | KCNH2 | n.1485A>G c.652A>G (p.Met218Val) c.304A>G (p.Met102Val) n.875A>G c.352A>G (p.Met118Val) c.502A>G (p.Met168Val) c.475A>G (p.Met159Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958323T>G | CA369862968 | KCNH2 | n.1485A>C c.652A>C (p.Met218Leu) c.304A>C (p.Met102Leu) n.875A>C c.352A>C (p.Met118Leu) c.502A>C (p.Met168Leu) c.475A>C (p.Met159Leu) | |
7 | g.150958323T= | CA1752418421 | KCNH2 | n.1485A= c.652A= (p.Met218=) c.304A= (p.Met102=) n.875A= c.352A= (p.Met118=) c.502A= (p.Met168=) c.475A= (p.Met159=) | |
7 | g.150958324G>A | CA458646519 | KCNH2 | n.1484C>T c.651C>T (p.Ala217=) c.303C>T (p.Ala101=) n.874C>T c.351C>T (p.Ala117=) c.501C>T (p.Ala167=) c.474C>T (p.Ala158=) | dbSNP gnomAD v4 |
7 | g.150958324G>C | CA458646521 | KCNH2 | n.1484C>G c.651C>G (p.Ala217=) c.303C>G (p.Ala101=) n.874C>G c.351C>G (p.Ala117=) c.501C>G (p.Ala167=) c.474C>G (p.Ala158=) | gnomAD v4 |
7 | g.150958324G= | CA1752418427 | KCNH2 | n.1484C= c.651C= (p.Ala217=) c.303C= (p.Ala101=) n.874C= c.351C= (p.Ala117=) c.501C= (p.Ala167=) c.474C= (p.Ala158=) | |
7 | g.150958324G>T | CA458646523 | KCNH2 | n.1484C>A c.651C>A (p.Ala217=) c.303C>A (p.Ala101=) n.874C>A c.351C>A (p.Ala117=) c.501C>A (p.Ala167=) c.474C>A (p.Ala158=) | gnomAD v4 |
7 | g.150958324_150958325insAT | CA2567370311 | KCNH2 | n.1483_1484insAT c.650_651insAT (p.Met218SerfsTer?) c.302_303insAT (p.Met102SerfsTer?) n.873_874insAT c.350_351insAT (p.Met118SerfsTer?) c.500_501insAT (p.Met168SerfsTer?) c.473_474insAT (p.Met159SerfsTer?) | gnomAD v4 |
7 | g.150958325G>A | CA369862970 | KCNH2 | n.1483C>T c.650C>T (p.Ala217Val) c.302C>T (p.Ala101Val) n.873C>T c.350C>T (p.Ala117Val) c.500C>T (p.Ala167Val) c.473C>T (p.Ala158Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958325G>C | CA369862973 | KCNH2 | n.1483C>G c.650C>G (p.Ala217Gly) c.302C>G (p.Ala101Gly) n.873C>G c.350C>G (p.Ala117Gly) c.500C>G (p.Ala167Gly) c.473C>G (p.Ala158Gly) | gnomAD v4 |
7 | g.150958325G= | CA1752418429 | KCNH2 | n.1483C= c.650C= (p.Ala217=) c.302C= (p.Ala101=) n.873C= c.350C= (p.Ala117=) c.500C= (p.Ala167=) c.473C= (p.Ala158=) | |
7 | g.150958325G>T | CA369862971 | KCNH2 | n.1483C>A c.650C>A (p.Ala217Asp) c.302C>A (p.Ala101Asp) n.873C>A c.350C>A (p.Ala117Asp) c.500C>A (p.Ala167Asp) c.473C>A (p.Ala158Asp) | ClinVar gnomAD v4 |
7 | g.150958326C>A | CA369862975 | KCNH2 | n.1482G>T c.649G>T (p.Ala217Ser) c.301G>T (p.Ala101Ser) n.872G>T c.349G>T (p.Ala117Ser) c.499G>T (p.Ala167Ser) c.472G>T (p.Ala158Ser) | gnomAD v4 |
7 | g.150958326C>G | CA369862976 | KCNH2 | n.1482G>C c.649G>C (p.Ala217Pro) c.301G>C (p.Ala101Pro) n.872G>C c.349G>C (p.Ala117Pro) c.499G>C (p.Ala167Pro) c.472G>C (p.Ala158Pro) | gnomAD v4 |
7 | g.150958326C>T | CA369862978 | KCNH2 | n.1482G>A c.649G>A (p.Ala217Thr) c.301G>A (p.Ala101Thr) n.872G>A c.349G>A (p.Ala117Thr) c.499G>A (p.Ala167Thr) c.472G>A (p.Ala158Thr) | gnomAD v4 |
7 | g.150958326_150958327del | CA2546923698 | KCNH2 | n.1481_1482del c.648_649del (p.Ala217HisfsTer?) c.300_301del (p.Ala101HisfsTer?) n.871_872del c.348_349del (p.Ala117HisfsTer?) c.498_499del (p.Ala167HisfsTer?) c.471_472del (p.Ala158HisfsTer?) | gnomAD v4 |
7 | g.150958327del | CA2685608307 | KCNH2 | n.1481del c.648del (p.Ala217ProfsTer?) c.300del (p.Ala101ProfsTer?) n.871del c.348del (p.Ala117ProfsTer?) c.498del (p.Ala167ProfsTer?) c.471del (p.Ala158ProfsTer?) | gnomAD v4 |
7 | g.150958327T>A | CA458646529 | KCNH2 | n.1481A>T c.648A>T (p.Thr216=) c.300A>T (p.Thr100=) n.871A>T c.348A>T (p.Thr116=) c.498A>T (p.Thr166=) c.471A>T (p.Thr157=) | |
7 | g.150958327T>C | CA458646531 | KCNH2 | n.1481A>G c.648A>G (p.Thr216=) c.300A>G (p.Thr100=) n.871A>G c.348A>G (p.Thr116=) c.498A>G (p.Thr166=) c.471A>G (p.Thr157=) | gnomAD v4 |
7 | g.150958327T>G | CA458646532 | KCNH2 | n.1481A>C c.648A>C (p.Thr216=) c.300A>C (p.Thr100=) n.871A>C c.348A>C (p.Thr116=) c.498A>C (p.Thr166=) c.471A>C (p.Thr157=) | gnomAD v4 |
7 | g.150958328G>A | CA369862979 | KCNH2 | n.1480C>T c.647C>T (p.Thr216Ile) c.299C>T (p.Thr100Ile) n.870C>T c.347C>T (p.Thr116Ile) c.497C>T (p.Thr166Ile) c.470C>T (p.Thr157Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150958328G>C | CA369862981 | KCNH2 | n.1480C>G c.647C>G (p.Thr216Arg) c.299C>G (p.Thr100Arg) n.870C>G c.347C>G (p.Thr116Arg) c.497C>G (p.Thr166Arg) c.470C>G (p.Thr157Arg) | |
7 | g.150958328G= | CA1752418432 | KCNH2 | n.1480C= c.647C= (p.Thr216=) c.299C= (p.Thr100=) n.870C= c.347C= (p.Thr116=) c.497C= (p.Thr166=) c.470C= (p.Thr157=) | |
7 | g.150958328G>T | CA369862983 | KCNH2 | n.1480C>A c.647C>A (p.Thr216Lys) c.299C>A (p.Thr100Lys) n.870C>A c.347C>A (p.Thr116Lys) c.497C>A (p.Thr166Lys) c.470C>A (p.Thr157Lys) | dbSNP gnomAD v4 |
7 | g.150958329T>A | CA369862984 | KCNH2 | n.1479A>T c.646A>T (p.Thr216Ser) c.298A>T (p.Thr100Ser) n.869A>T c.346A>T (p.Thr116Ser) c.496A>T (p.Thr166Ser) c.469A>T (p.Thr157Ser) | gnomAD v4 |
7 | g.150958329T>C | CA369862986 | KCNH2 | n.1479A>G c.646A>G (p.Thr216Ala) c.298A>G (p.Thr100Ala) n.869A>G c.346A>G (p.Thr116Ala) c.496A>G (p.Thr166Ala) c.469A>G (p.Thr157Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958329T>G | CA369862988 | KCNH2 | n.1479A>C c.646A>C (p.Thr216Pro) c.298A>C (p.Thr100Pro) n.869A>C c.346A>C (p.Thr116Pro) c.496A>C (p.Thr166Pro) c.469A>C (p.Thr157Pro) |