OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.150958343del | CA2685608374 | KCNH2 | n.1467del c.634del (p.Leu212TrpfsTer4) c.286del (p.Leu96TrpfsTer4) n.857del c.334del (p.Leu112TrpfsTer4) c.484del (p.Leu162TrpfsTer4) c.457del (p.Leu153TrpfsTer4) | gnomAD v4 |
| 7 | g.150958342G>A | CA040124 | KCNH2 | n.1466C>T c.633C>T (p.Ala211=) c.285C>T (p.Ala95=) n.856C>T c.333C>T (p.Ala111=) c.483C>T (p.Ala161=) c.456C>T (p.Ala152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958342G>C | CA458646572 | KCNH2 | n.1466C>G c.633C>G (p.Ala211=) c.285C>G (p.Ala95=) n.856C>G c.333C>G (p.Ala111=) c.483C>G (p.Ala161=) c.456C>G (p.Ala152=) | gnomAD v4 |
| 7 | g.150958342G= | CA1752418477 | KCNH2 | n.1466C= c.633C= (p.Ala211=) c.285C= (p.Ala95=) n.856C= c.333C= (p.Ala111=) c.483C= (p.Ala161=) c.456C= (p.Ala152=) | |
| 7 | g.150958342G>T | CA458646573 | KCNH2 | n.1466C>A c.633C>A (p.Ala211=) c.285C>A (p.Ala95=) n.856C>A c.333C>A (p.Ala111=) c.483C>A (p.Ala161=) c.456C>A (p.Ala152=) | gnomAD v4 |
| 7 | g.150958343G>A | CA369863034 | KCNH2 | n.1465C>T c.632C>T (p.Ala211Val) c.284C>T (p.Ala95Val) n.855C>T c.332C>T (p.Ala111Val) c.482C>T (p.Ala161Val) c.455C>T (p.Ala152Val) | ClinVar gnomAD v4 |
| 7 | g.150958343G>C | CA369863036 | KCNH2 | n.1465C>G c.632C>G (p.Ala211Gly) c.284C>G (p.Ala95Gly) n.855C>G c.332C>G (p.Ala111Gly) c.482C>G (p.Ala161Gly) c.455C>G (p.Ala152Gly) | gnomAD v4 |
| 7 | g.150958343G= | CA1752418480 | KCNH2 | n.1465C= c.632C= (p.Ala211=) c.284C= (p.Ala95=) n.855C= c.332C= (p.Ala111=) c.482C= (p.Ala161=) c.455C= (p.Ala152=) | |
| 7 | g.150958343G>T | CA169081387 | KCNH2 | n.1465C>A c.632C>A (p.Ala211Asp) c.284C>A (p.Ala95Asp) n.855C>A c.332C>A (p.Ala111Asp) c.482C>A (p.Ala161Asp) c.455C>A (p.Ala152Asp) | dbSNP gnomAD v4 |
| 7 | g.150958344C>A | CA169081388 | KCNH2 | n.1464G>T c.631G>T (p.Ala211Ser) c.283G>T (p.Ala95Ser) n.854G>T c.331G>T (p.Ala111Ser) c.481G>T (p.Ala161Ser) c.454G>T (p.Ala152Ser) | dbSNP gnomAD v4 |
| 7 | g.150958344C= | CA1752418482 | KCNH2 | n.1464G= c.631G= (p.Ala211=) c.283G= (p.Ala95=) n.854G= c.331G= (p.Ala111=) c.481G= (p.Ala161=) c.454G= (p.Ala152=) | |
| 7 | g.150958344C>G | CA369863040 | KCNH2 | n.1464G>C c.631G>C (p.Ala211Pro) c.283G>C (p.Ala95Pro) n.854G>C c.331G>C (p.Ala111Pro) c.481G>C (p.Ala161Pro) c.454G>C (p.Ala152Pro) | |
| 7 | g.150958344C>T | CA071854 | KCNH2 | n.1464G>A c.631G>A (p.Ala211Thr) c.283G>A (p.Ala95Thr) n.854G>A c.331G>A (p.Ala111Thr) c.481G>A (p.Ala161Thr) c.454G>A (p.Ala152Thr) | gnomAD v4 |
| 7 | g.150958345del | CA2685608398 | KCNH2 | n.1464del c.631del (p.Ala211ProfsTer5) c.283del (p.Ala95ProfsTer5) n.854del c.331del (p.Ala111ProfsTer5) c.481del (p.Ala161ProfsTer5) c.454del (p.Ala152ProfsTer5) | gnomAD v4 |
| 7 | g.150958345C>A | CA458646580 | KCNH2 | n.1463G>T c.630G>T (p.Leu210=) c.282G>T (p.Leu94=) n.853G>T c.330G>T (p.Leu110=) c.480G>T (p.Leu160=) c.453G>T (p.Leu151=) | dbSNP gnomAD v4 |
| 7 | g.150958345C= | CA1752418484 | KCNH2 | n.1463G= c.630G= (p.Leu210=) c.282G= (p.Leu94=) n.853G= c.330G= (p.Leu110=) c.480G= (p.Leu160=) c.453G= (p.Leu151=) | |
| 7 | g.150958345C>G | CA458646581 | KCNH2 | n.1463G>C c.630G>C (p.Leu210=) c.282G>C (p.Leu94=) n.853G>C c.330G>C (p.Leu110=) c.480G>C (p.Leu160=) c.453G>C (p.Leu151=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958345C>T | CA458646582 | KCNH2 | n.1463G>A c.630G>A (p.Leu210=) c.282G>A (p.Leu94=) n.853G>A c.330G>A (p.Leu110=) c.480G>A (p.Leu160=) c.453G>A (p.Leu151=) | gnomAD v4 |
| 7 | g.150958346A= | CA1752418488 | KCNH2 | n.1462T= c.629T= (p.Leu210=) c.281T= (p.Leu94=) n.852T= c.329T= (p.Leu110=) c.479T= (p.Leu160=) c.452T= (p.Leu151=) | |
| 7 | g.150958346A>C | CA369863044 | KCNH2 | n.1462T>G c.629T>G (p.Leu210Arg) c.281T>G (p.Leu94Arg) n.852T>G c.329T>G (p.Leu110Arg) c.479T>G (p.Leu160Arg) c.452T>G (p.Leu151Arg) | |
| 7 | g.150958346A>G | CA369863042 | KCNH2 | n.1462T>C c.629T>C (p.Leu210Pro) c.281T>C (p.Leu94Pro) n.852T>C c.329T>C (p.Leu110Pro) c.479T>C (p.Leu160Pro) c.452T>C (p.Leu151Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958346A>T | CA369863046 | KCNH2 | n.1462T>A c.629T>A (p.Leu210Gln) c.281T>A (p.Leu94Gln) n.852T>A c.329T>A (p.Leu110Gln) c.479T>A (p.Leu160Gln) c.452T>A (p.Leu151Gln) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958347G>A | CA458646586 | KCNH2 | n.1461C>T c.628C>T (p.Leu210=) c.280C>T (p.Leu94=) n.851C>T c.328C>T (p.Leu110=) c.478C>T (p.Leu160=) c.451C>T (p.Leu151=) | gnomAD v4 |
| 7 | g.150958347G>C | CA369863048 | KCNH2 | n.1461C>G c.628C>G (p.Leu210Val) c.280C>G (p.Leu94Val) n.851C>G c.328C>G (p.Leu110Val) c.478C>G (p.Leu160Val) c.451C>G (p.Leu151Val) | gnomAD v4 |
| 7 | g.150958347G>T | CA369863049 | KCNH2 | n.1461C>A c.628C>A (p.Leu210Met) c.280C>A (p.Leu94Met) n.851C>A c.328C>A (p.Leu110Met) c.478C>A (p.Leu160Met) c.451C>A (p.Leu151Met) | gnomAD v4 |
| 7 | g.150958348C>A | CA169081389 | KCNH2 | n.1460G>T c.627G>T (p.Ser209=) c.279G>T (p.Ser93=) n.850G>T c.327G>T (p.Ser109=) c.477G>T (p.Ser159=) c.450G>T (p.Ser150=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958348C= | CA1752418492 | KCNH2 | n.1460G= c.627G= (p.Ser209=) c.279G= (p.Ser93=) n.850G= c.327G= (p.Ser109=) c.477G= (p.Ser159=) c.450G= (p.Ser150=) | |
| 7 | g.150958348C>G | CA458646590 | KCNH2 | n.1460G>C c.627G>C (p.Ser209=) c.279G>C (p.Ser93=) n.850G>C c.327G>C (p.Ser109=) c.477G>C (p.Ser159=) c.450G>C (p.Ser150=) | gnomAD v4 |
| 7 | g.150958348C>T | CA458646592 | KCNH2 | n.1460G>A c.627G>A (p.Ser209=) c.279G>A (p.Ser93=) n.850G>A c.327G>A (p.Ser109=) c.477G>A (p.Ser159=) c.450G>A (p.Ser150=) | gnomAD v4 |
| 7 | g.150958349G>A | CA071932 | KCNH2 | n.1459C>T c.626C>T (p.Ser209Leu) c.278C>T (p.Ser93Leu) n.849C>T c.326C>T (p.Ser109Leu) c.476C>T (p.Ser159Leu) c.449C>T (p.Ser150Leu) | dbSNP gnomAD v4 |
| 7 | g.150958349G>C | CA369863052 | KCNH2 | n.1459C>G c.626C>G (p.Ser209Trp) c.278C>G (p.Ser93Trp) n.849C>G c.326C>G (p.Ser109Trp) c.476C>G (p.Ser159Trp) c.449C>G (p.Ser150Trp) | |
| 7 | g.150958349G= | CA1752418494 | KCNH2 | n.1459C= c.626C= (p.Ser209=) c.278C= (p.Ser93=) n.849C= c.326C= (p.Ser109=) c.476C= (p.Ser159=) c.449C= (p.Ser150=) | |
| 7 | g.150958349G>T | CA369863054 | KCNH2 | n.1459C>A c.626C>A (p.Ser209Ter) c.278C>A (p.Ser93Ter) n.849C>A c.326C>A (p.Ser109Ter) c.476C>A (p.Ser159Ter) c.449C>A (p.Ser150Ter) | gnomAD v4 |
| 7 | g.150958350A>C | CA369863057 | KCNH2 | n.1458T>G c.625T>G (p.Ser209Ala) c.277T>G (p.Ser93Ala) n.848T>G c.325T>G (p.Ser109Ala) c.475T>G (p.Ser159Ala) c.448T>G (p.Ser150Ala) | |
| 7 | g.150958350A>G | CA369863058 | KCNH2 | n.1458T>C c.625T>C (p.Ser209Pro) c.277T>C (p.Ser93Pro) n.848T>C c.325T>C (p.Ser109Pro) c.475T>C (p.Ser159Pro) c.448T>C (p.Ser150Pro) | gnomAD v4 |
| 7 | g.150958350A>T | CA369863059 | KCNH2 | n.1458T>A c.625T>A (p.Ser209Thr) c.277T>A (p.Ser93Thr) n.848T>A c.325T>A (p.Ser109Thr) c.475T>A (p.Ser159Thr) c.448T>A (p.Ser150Thr) | gnomAD v4 |
| 7 | g.150958351C>A | CA369863062 | KCNH2 | n.1457G>T c.624G>T (p.Glu208Asp) c.276G>T (p.Glu92Asp) n.847G>T c.324G>T (p.Glu108Asp) c.474G>T (p.Glu158Asp) c.447G>T (p.Glu149Asp) | gnomAD v4 |
| 7 | g.150958351C>G | CA369863064 | KCNH2 | n.1457G>C c.624G>C (p.Glu208Asp) c.276G>C (p.Glu92Asp) n.847G>C c.324G>C (p.Glu108Asp) c.474G>C (p.Glu158Asp) c.447G>C (p.Glu149Asp) | |
| 7 | g.150958351C>T | CA458646597 | KCNH2 | n.1457G>A c.624G>A (p.Glu208=) c.276G>A (p.Glu92=) n.847G>A c.324G>A (p.Glu108=) c.474G>A (p.Glu158=) c.447G>A (p.Glu149=) | ClinVar gnomAD v4 |
| 7 | g.150958352T>A | CA369863066 | KCNH2 | n.1456A>T c.623A>T (p.Glu208Val) c.275A>T (p.Glu92Val) n.846A>T c.323A>T (p.Glu108Val) c.473A>T (p.Glu158Val) c.446A>T (p.Glu149Val) | gnomAD v4 |
| 7 | g.150958352T>C | CA369863068 | KCNH2 | n.1456A>G c.623A>G (p.Glu208Gly) c.275A>G (p.Glu92Gly) n.846A>G c.323A>G (p.Glu108Gly) c.473A>G (p.Glu158Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 7 | g.150958352T>G | CA369863070 | KCNH2 | n.1456A>C c.623A>C (p.Glu208Ala) c.275A>C (p.Glu92Ala) n.846A>C c.323A>C (p.Glu108Ala) c.473A>C (p.Glu158Ala) c.446A>C (p.Glu149Ala) | |
| 7 | g.150958353C>A | CA369863074 | KCNH2 | n.1455G>T c.622G>T (p.Glu208Ter) c.274G>T (p.Glu92Ter) n.845G>T c.322G>T (p.Glu108Ter) c.472G>T (p.Glu158Ter) c.445G>T (p.Glu149Ter) | gnomAD v4 |
| 7 | g.150958353C= | CA1752418496 | KCNH2 | n.1455G= c.622G= (p.Glu208=) c.274G= (p.Glu92=) n.845G= c.322G= (p.Glu108=) c.472G= (p.Glu158=) c.445G= (p.Glu149=) | |
| 7 | g.150958353C>G | CA369863071 | KCNH2 | n.1455G>C c.622G>C (p.Glu208Gln) c.274G>C (p.Glu92Gln) n.845G>C c.322G>C (p.Glu108Gln) c.472G>C (p.Glu158Gln) c.445G>C (p.Glu149Gln) | gnomAD v4 |
| 7 | g.150958353C>T | CA369863072 | KCNH2 | n.1455G>A c.622G>A (p.Glu208Lys) c.274G>A (p.Glu92Lys) n.845G>A c.322G>A (p.Glu108Lys) c.472G>A (p.Glu158Lys) c.445G>A (p.Glu149Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958354_150958355dup | CA2695208640 | KCNH2 | n.1454_1455dup c.621_622dup (p.Glu208AlafsTer9) c.273_274dup (p.Glu92AlafsTer9) n.844_845dup c.321_322dup (p.Glu108AlafsTer9) c.471_472dup (p.Glu158AlafsTer9) c.444_445dup (p.Glu149AlafsTer9) | |
| 7 | g.150958354G>A | CA040109 | KCNH2 | n.1454C>T c.621C>T (p.Ser207=) c.273C>T (p.Ser91=) n.844C>T c.321C>T (p.Ser107=) c.471C>T (p.Ser157=) c.444C>T (p.Ser148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958354G>C | CA369863077 | KCNH2 | n.1454C>G c.621C>G (p.Ser207Arg) c.273C>G (p.Ser91Arg) n.844C>G c.321C>G (p.Ser107Arg) c.471C>G (p.Ser157Arg) c.444C>G (p.Ser148Arg) | gnomAD v4 |
| 7 | g.150958354G= | CA1752418499 | KCNH2 | n.1454C= c.621C= (p.Ser207=) c.273C= (p.Ser91=) n.844C= c.321C= (p.Ser107=) c.471C= (p.Ser157=) c.444C= (p.Ser148=) | |
| 7 | g.150958354G>T | CA169081394 | KCNH2 | n.1454C>A c.621C>A (p.Ser207Arg) c.273C>A (p.Ser91Arg) n.844C>A c.321C>A (p.Ser107Arg) c.471C>A (p.Ser157Arg) c.444C>A (p.Ser148Arg) | dbSNP gnomAD v4 |
| 7 | g.150958355C>A | CA369863080 | KCNH2 | n.1453G>T c.620G>T (p.Ser207Ile) c.272G>T (p.Ser91Ile) n.843G>T c.320G>T (p.Ser107Ile) c.470G>T (p.Ser157Ile) c.443G>T (p.Ser148Ile) | gnomAD v4 |
| 7 | g.150958355C>G | CA369863082 | KCNH2 | n.1453G>C c.620G>C (p.Ser207Thr) c.272G>C (p.Ser91Thr) n.843G>C c.320G>C (p.Ser107Thr) c.470G>C (p.Ser157Thr) c.443G>C (p.Ser148Thr) | gnomAD v4 |
| 7 | g.150958355C>T | CA369863084 | KCNH2 | n.1453G>A c.620G>A (p.Ser207Asn) c.272G>A (p.Ser91Asn) n.843G>A c.320G>A (p.Ser107Asn) c.470G>A (p.Ser157Asn) c.443G>A (p.Ser148Asn) | gnomAD v4 |
| 7 | g.150958356del | CA2695208641 | KCNH2 | n.1452del c.619del (p.Ser207AlafsTer9) c.271del (p.Ser91AlafsTer9) n.842del c.319del (p.Ser107AlafsTer9) c.469del (p.Ser157AlafsTer9) c.442del (p.Ser148AlafsTer9) | |
| 7 | g.150958356T>A | CA369863086 | KCNH2 | n.1452A>T c.619A>T (p.Ser207Cys) c.271A>T (p.Ser91Cys) n.842A>T c.319A>T (p.Ser107Cys) c.469A>T (p.Ser157Cys) c.442A>T (p.Ser148Cys) | |
| 7 | g.150958356T>C | CA369863088 | KCNH2 | n.1452A>G c.619A>G (p.Ser207Gly) c.271A>G (p.Ser91Gly) n.842A>G c.319A>G (p.Ser107Gly) c.469A>G (p.Ser157Gly) c.442A>G (p.Ser148Gly) | gnomAD v4 |
| 7 | g.150958356T>G | CA369863089 | KCNH2 | n.1452A>C c.619A>C (p.Ser207Arg) c.271A>C (p.Ser91Arg) n.842A>C c.319A>C (p.Ser107Arg) c.469A>C (p.Ser157Arg) c.442A>C (p.Ser148Arg) | |
| 7 | g.150958357G>A | CA458646607 | KCNH2 | n.1451C>T c.618C>T (p.Ser206=) c.270C>T (p.Ser90=) n.841C>T c.318C>T (p.Ser106=) c.468C>T (p.Ser156=) c.441C>T (p.Ser147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958357G>C | CA369863091 | KCNH2 | n.1451C>G c.618C>G (p.Ser206Arg) c.270C>G (p.Ser90Arg) n.841C>G c.318C>G (p.Ser106Arg) c.468C>G (p.Ser156Arg) c.441C>G (p.Ser147Arg) | gnomAD v4 |
| 7 | g.150958357G= | CA1752418504 | KCNH2 | n.1451C= c.618C= (p.Ser206=) c.270C= (p.Ser90=) n.841C= c.318C= (p.Ser106=) c.468C= (p.Ser156=) c.441C= (p.Ser147=) | |
| 7 | g.150958357G>T | CA369863093 | KCNH2 | n.1451C>A c.618C>A (p.Ser206Arg) c.270C>A (p.Ser90Arg) n.841C>A c.318C>A (p.Ser106Arg) c.468C>A (p.Ser156Arg) c.441C>A (p.Ser147Arg) | gnomAD v4 |
| 7 | g.150958357_150958358delinsAA | CA16612050 | KCNH2 | n.1450_1451delinsTT c.617_618delinsTT (p.Ser206Ile) c.269_270delinsTT (p.Ser90Ile) n.840_841delinsTT c.317_318delinsTT (p.Ser106Ile) c.467_468delinsTT (p.Ser156Ile) c.440_441delinsTT (p.Ser147Ile) | ClinVar dbSNP |
| 7 | g.150958357_150958358delinsGC | CA1752418506 | KCNH2 | n.1450_1451delinsGC c.617_618delinsGC (p.Ser206=) c.269_270delinsGC (p.Ser90=) n.840_841delinsGC c.317_318delinsGC (p.Ser106=) c.467_468delinsGC (p.Ser156=) c.440_441delinsGC (p.Ser147=) | |
| 7 | g.150958358C>A | CA369863097 | KCNH2 | n.1450G>T c.617G>T (p.Ser206Ile) c.269G>T (p.Ser90Ile) n.840G>T c.317G>T (p.Ser106Ile) c.467G>T (p.Ser156Ile) c.440G>T (p.Ser147Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958358C= | CA1752418509 | KCNH2 | n.1450G= c.617G= (p.Ser206=) c.269G= (p.Ser90=) n.840G= c.317G= (p.Ser106=) c.467G= (p.Ser156=) c.440G= (p.Ser147=) | |
| 7 | g.150958358C>G | CA369863099 | KCNH2 | n.1450G>C c.617G>C (p.Ser206Thr) c.269G>C (p.Ser90Thr) n.840G>C c.317G>C (p.Ser106Thr) c.467G>C (p.Ser156Thr) c.440G>C (p.Ser147Thr) | |
| 7 | g.150958358C>T | CA369863095 | KCNH2 | n.1450G>A c.617G>A (p.Ser206Asn) c.269G>A (p.Ser90Asn) n.840G>A c.317G>A (p.Ser106Asn) c.467G>A (p.Ser156Asn) c.440G>A (p.Ser147Asn) | gnomAD v4 |
| 7 | g.150958359T>A | CA369863101 | KCNH2 | n.1449A>T c.616A>T (p.Ser206Cys) c.268A>T (p.Ser90Cys) n.839A>T c.316A>T (p.Ser106Cys) c.466A>T (p.Ser156Cys) c.439A>T (p.Ser147Cys) | gnomAD v4 |
| 7 | g.150958359T>C | CA369863103 | KCNH2 | n.1449A>G c.616A>G (p.Ser206Gly) c.268A>G (p.Ser90Gly) n.839A>G c.316A>G (p.Ser106Gly) c.466A>G (p.Ser156Gly) c.439A>G (p.Ser147Gly) | gnomAD v4 |
| 7 | g.150958359T>G | CA369863104 | KCNH2 | n.1449A>C c.616A>C (p.Ser206Arg) c.268A>C (p.Ser90Arg) n.839A>C c.316A>C (p.Ser106Arg) c.466A>C (p.Ser156Arg) c.439A>C (p.Ser147Arg) | |
| 7 | g.150958360G>A | CA458646615 | KCNH2 | n.1448C>T c.615C>T (p.Pro205=) c.267C>T (p.Pro89=) n.838C>T c.315C>T (p.Pro105=) c.465C>T (p.Pro155=) c.438C>T (p.Pro146=) | gnomAD v4 |
| 7 | g.150958360G>C | CA071815 | KCNH2 | n.1448C>G c.615C>G (p.Pro205=) c.267C>G (p.Pro89=) n.838C>G c.315C>G (p.Pro105=) c.465C>G (p.Pro155=) c.438C>G (p.Pro146=) | gnomAD v4 |
| 7 | g.150958360G>T | CA458646616 | KCNH2 | n.1448C>A c.615C>A (p.Pro205=) c.267C>A (p.Pro89=) n.838C>A c.315C>A (p.Pro105=) c.465C>A (p.Pro155=) c.438C>A (p.Pro146=) | gnomAD v4 |
| 7 | g.150958361G>A | CA369863107 | KCNH2 | n.1447C>T c.614C>T (p.Pro205Leu) c.266C>T (p.Pro89Leu) n.837C>T c.314C>T (p.Pro105Leu) c.464C>T (p.Pro155Leu) c.437C>T (p.Pro146Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958361G>C | CA071810 | KCNH2 | n.1447C>G c.614C>G (p.Pro205Arg) c.266C>G (p.Pro89Arg) n.837C>G c.314C>G (p.Pro105Arg) c.464C>G (p.Pro155Arg) c.437C>G (p.Pro146Arg) | |
| 7 | g.150958361G= | CA1752418513 | KCNH2 | n.1447C= c.614C= (p.Pro205=) c.266C= (p.Pro89=) n.837C= c.314C= (p.Pro105=) c.464C= (p.Pro155=) c.437C= (p.Pro146=) | |
| 7 | g.150958361G>T | CA369863109 | KCNH2 | n.1447C>A c.614C>A (p.Pro205His) c.266C>A (p.Pro89His) n.837C>A c.314C>A (p.Pro105His) c.464C>A (p.Pro155His) c.437C>A (p.Pro146His) | gnomAD v4 |
| 7 | g.150958362G>A | CA169081399 | KCNH2 | n.1446C>T c.613C>T (p.Pro205Ser) c.265C>T (p.Pro89Ser) n.836C>T c.313C>T (p.Pro105Ser) c.463C>T (p.Pro155Ser) c.436C>T (p.Pro146Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958362G>C | CA071950 | KCNH2 | n.1446C>G c.613C>G (p.Pro205Ala) c.265C>G (p.Pro89Ala) n.836C>G c.313C>G (p.Pro105Ala) c.463C>G (p.Pro155Ala) c.436C>G (p.Pro146Ala) | gnomAD v4 |
| 7 | g.150958362G= | CA1752418516 | KCNH2 | n.1446C= c.613C= (p.Pro205=) c.265C= (p.Pro89=) n.836C= c.313C= (p.Pro105=) c.463C= (p.Pro155=) c.436C= (p.Pro146=) | |
| 7 | g.150958362G>T | CA169081404 | KCNH2 | n.1446C>A c.613C>A (p.Pro205Thr) c.265C>A (p.Pro89Thr) n.836C>A c.313C>A (p.Pro105Thr) c.463C>A (p.Pro155Thr) c.436C>A (p.Pro146Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958363T>A | CA458646623 | KCNH2 | n.1445A>T c.612A>T (p.Ala204=) c.264A>T (p.Ala88=) n.835A>T c.312A>T (p.Ala104=) c.462A>T (p.Ala154=) c.435A>T (p.Ala145=) | gnomAD v4 |
| 7 | g.150958363T>C | CA458646624 | KCNH2 | n.1445A>G c.612A>G (p.Ala204=) c.264A>G (p.Ala88=) n.835A>G c.312A>G (p.Ala104=) c.462A>G (p.Ala154=) c.435A>G (p.Ala145=) | gnomAD v4 |
| 7 | g.150958363T>G | CA458646626 | KCNH2 | n.1445A>C c.612A>C (p.Ala204=) c.264A>C (p.Ala88=) n.835A>C c.312A>C (p.Ala104=) c.462A>C (p.Ala154=) c.435A>C (p.Ala145=) | dbSNP |
| 7 | g.150958363T= | CA1752418518 | KCNH2 | n.1445A= c.612A= (p.Ala204=) c.264A= (p.Ala88=) n.835A= c.312A= (p.Ala104=) c.462A= (p.Ala154=) c.435A= (p.Ala145=) | |
| 7 | g.150958364G>A | CA369863113 | KCNH2 | n.1444C>T c.611C>T (p.Ala204Val) c.263C>T (p.Ala88Val) n.834C>T c.311C>T (p.Ala104Val) c.461C>T (p.Ala154Val) c.434C>T (p.Ala145Val) | gnomAD v4 |
| 7 | g.150958364G>C | CA369863115 | KCNH2 | n.1444C>G c.611C>G (p.Ala204Gly) c.263C>G (p.Ala88Gly) n.834C>G c.311C>G (p.Ala104Gly) c.461C>G (p.Ala154Gly) c.434C>G (p.Ala145Gly) | |
| 7 | g.150958364G>T | CA369863117 | KCNH2 | n.1444C>A c.611C>A (p.Ala204Glu) c.263C>A (p.Ala88Glu) n.834C>A c.311C>A (p.Ala104Glu) c.461C>A (p.Ala154Glu) c.434C>A (p.Ala145Glu) | gnomAD v4 |
| 7 | g.150958365C>A | CA369863121 | KCNH2 | n.1443G>T c.610G>T (p.Ala204Ser) c.262G>T (p.Ala88Ser) n.833G>T c.310G>T (p.Ala104Ser) c.460G>T (p.Ala154Ser) c.433G>T (p.Ala145Ser) | gnomAD v4 |
| 7 | g.150958365C= | CA1752418521 | KCNH2 | n.1443G= c.610G= (p.Ala204=) c.262G= (p.Ala88=) n.833G= c.310G= (p.Ala104=) c.460G= (p.Ala154=) c.433G= (p.Ala145=) | |
| 7 | g.150958365C>G | CA369863119 | KCNH2 | n.1443G>C c.610G>C (p.Ala204Pro) c.262G>C (p.Ala88Pro) n.833G>C c.310G>C (p.Ala104Pro) c.460G>C (p.Ala154Pro) c.433G>C (p.Ala145Pro) | gnomAD v4 |
| 7 | g.150958365C>T | CA169081407 | KCNH2 | n.1443G>A c.610G>A (p.Ala204Thr) c.262G>A (p.Ala88Thr) n.833G>A c.310G>A (p.Ala104Thr) c.460G>A (p.Ala154Thr) c.433G>A (p.Ala145Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958366del | CA2716208800 | KCNH2 | n.1443del c.610del (p.Ala204HisfsTer12) c.262del (p.Ala88HisfsTer12) n.833del c.310del (p.Ala104HisfsTer12) c.460del (p.Ala154HisfsTer12) c.433del (p.Ala145HisfsTer12) | dbSNP |
| 7 | g.150958366C>A | CA458646631 | KCNH2 | n.1442G>T c.609G>T (p.Ala203=) c.261G>T (p.Ala87=) n.832G>T c.309G>T (p.Ala103=) c.459G>T (p.Ala153=) c.432G>T (p.Ala144=) | dbSNP gnomAD v4 |
| 7 | g.150958366C>G | CA458646633 | KCNH2 | n.1442G>C c.609G>C (p.Ala203=) c.261G>C (p.Ala87=) n.832G>C c.309G>C (p.Ala103=) c.459G>C (p.Ala153=) c.432G>C (p.Ala144=) | |
| 7 | g.150958366C>T | CA458646635 | KCNH2 | n.1442G>A c.609G>A (p.Ala203=) c.261G>A (p.Ala87=) n.832G>A c.309G>A (p.Ala103=) c.459G>A (p.Ala153=) c.432G>A (p.Ala144=) | gnomAD v4 |
| 7 | g.150958368_150958369del | CA2716208801 | KCNH2 | n.1441_1442del c.608_609del (p.Ala203GlyfsTer?) c.260_261del (p.Ala87GlyfsTer?) n.831_832del c.308_309del (p.Ala103GlyfsTer?) c.458_459del (p.Ala153GlyfsTer?) c.431_432del (p.Ala144GlyfsTer?) | dbSNP |
| 7 | g.150958367G>A | CA071954 | KCNH2 | n.1441C>T c.608C>T (p.Ala203Val) c.260C>T (p.Ala87Val) n.831C>T c.308C>T (p.Ala103Val) c.458C>T (p.Ala153Val) c.431C>T (p.Ala144Val) | gnomAD v4 |
| 7 | g.150958367G>C | CA369863124 | KCNH2 | n.1441C>G c.608C>G (p.Ala203Gly) c.260C>G (p.Ala87Gly) n.831C>G c.308C>G (p.Ala103Gly) c.458C>G (p.Ala153Gly) c.431C>G (p.Ala144Gly) | gnomAD v4 |
| 7 | g.150958367G>T | CA369863126 | KCNH2 | n.1441C>A c.608C>A (p.Ala203Glu) c.260C>A (p.Ala87Glu) n.831C>A c.308C>A (p.Ala103Glu) c.458C>A (p.Ala153Glu) c.431C>A (p.Ala144Glu) | gnomAD v4 |
| 7 | g.150958368C>A | CA369863128 | KCNH2 | n.1440G>T c.607G>T (p.Ala203Ser) c.259G>T (p.Ala87Ser) n.830G>T c.307G>T (p.Ala103Ser) c.457G>T (p.Ala153Ser) c.430G>T (p.Ala144Ser) | gnomAD v4 |
| 7 | g.150958368C= | CA1752418523 | KCNH2 | n.1440G= c.607G= (p.Ala203=) c.259G= (p.Ala87=) n.830G= c.307G= (p.Ala103=) c.457G= (p.Ala153=) c.430G= (p.Ala144=) | |
| 7 | g.150958368C>G | CA369863130 | KCNH2 | n.1440G>C c.607G>C (p.Ala203Pro) c.259G>C (p.Ala87Pro) n.830G>C c.307G>C (p.Ala103Pro) c.457G>C (p.Ala153Pro) c.430G>C (p.Ala144Pro) | |
| 7 | g.150958368C>T | CA008631 | KCNH2 | n.1440G>A c.607G>A (p.Ala203Thr) c.259G>A (p.Ala87Thr) n.830G>A c.307G>A (p.Ala103Thr) c.457G>A (p.Ala153Thr) c.430G>A (p.Ala144Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958369G>A | CA458646640 | KCNH2 | n.1439C>T c.606C>T (p.Pro202=) c.258C>T (p.Pro86=) n.829C>T c.306C>T (p.Pro102=) c.456C>T (p.Pro152=) c.429C>T (p.Pro143=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958369G>C | CA458646641 | KCNH2 | n.1439C>G c.606C>G (p.Pro202=) c.258C>G (p.Pro86=) n.829C>G c.306C>G (p.Pro102=) c.456C>G (p.Pro152=) c.429C>G (p.Pro143=) | gnomAD v4 |
| 7 | g.150958369G= | CA1752418527 | KCNH2 | n.1439C= c.606C= (p.Pro202=) c.258C= (p.Pro86=) n.829C= c.306C= (p.Pro102=) c.456C= (p.Pro152=) c.429C= (p.Pro143=) | |
| 7 | g.150958369G>T | CA458646643 | KCNH2 | n.1439C>A c.606C>A (p.Pro202=) c.258C>A (p.Pro86=) n.829C>A c.306C>A (p.Pro102=) c.456C>A (p.Pro152=) c.429C>A (p.Pro143=) | gnomAD v4 |
| 7 | g.150958371del | CA2685608471 | KCNH2 | n.1439del c.606del (p.Ala203ArgfsTer13) c.258del (p.Ala87ArgfsTer13) n.829del c.306del (p.Ala103ArgfsTer13) c.456del (p.Ala153ArgfsTer13) c.429del (p.Ala144ArgfsTer13) | gnomAD v4 |
| 7 | g.150958370G>A | CA369863133 | KCNH2 | n.1438C>T c.605C>T (p.Pro202Leu) c.257C>T (p.Pro86Leu) n.828C>T c.305C>T (p.Pro102Leu) c.455C>T (p.Pro152Leu) c.428C>T (p.Pro143Leu) | gnomAD v4 |
| 7 | g.150958370G>C | CA369863134 | KCNH2 | n.1438C>G c.605C>G (p.Pro202Arg) c.257C>G (p.Pro86Arg) n.828C>G c.305C>G (p.Pro102Arg) c.455C>G (p.Pro152Arg) c.428C>G (p.Pro143Arg) | |
| 7 | g.150958370G>T | CA369863136 | KCNH2 | n.1438C>A c.605C>A (p.Pro202His) c.257C>A (p.Pro86His) n.828C>A c.305C>A (p.Pro102His) c.455C>A (p.Pro152His) c.428C>A (p.Pro143His) | gnomAD v4 |
| 7 | g.150958371G>A | CA071797 | KCNH2 | n.1437C>T c.604C>T (p.Pro202Ser) c.256C>T (p.Pro86Ser) n.827C>T c.304C>T (p.Pro102Ser) c.454C>T (p.Pro152Ser) c.427C>T (p.Pro143Ser) | gnomAD v4 |
| 7 | g.150958371G>C | CA369863139 | KCNH2 | n.1437C>G c.604C>G (p.Pro202Ala) c.256C>G (p.Pro86Ala) n.827C>G c.304C>G (p.Pro102Ala) c.454C>G (p.Pro152Ala) c.427C>G (p.Pro143Ala) | |
| 7 | g.150958371G= | CA1752418530 | KCNH2 | n.1437C= c.604C= (p.Pro202=) c.256C= (p.Pro86=) n.827C= c.304C= (p.Pro102=) c.454C= (p.Pro152=) c.427C= (p.Pro143=) | |
| 7 | g.150958371G>T | CA369863140 | KCNH2 | n.1437C>A c.604C>A (p.Pro202Thr) c.256C>A (p.Pro86Thr) n.827C>A c.304C>A (p.Pro102Thr) c.454C>A (p.Pro152Thr) c.427C>A (p.Pro143Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958372C>A | CA458646649 | KCNH2 | n.1436G>T c.603G>T (p.Thr201=) c.255G>T (p.Thr85=) n.826G>T c.303G>T (p.Thr101=) c.453G>T (p.Thr151=) c.426G>T (p.Thr142=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958372C= | CA1752418534 | KCNH2 | n.1436G= c.603G= (p.Thr201=) c.255G= (p.Thr85=) n.826G= c.303G= (p.Thr101=) c.453G= (p.Thr151=) c.426G= (p.Thr142=) | |
| 7 | g.150958372C>G | CA458646650 | KCNH2 | n.1436G>C c.603G>C (p.Thr201=) c.255G>C (p.Thr85=) n.826G>C c.303G>C (p.Thr101=) c.453G>C (p.Thr151=) c.426G>C (p.Thr142=) | gnomAD v4 |
| 7 | g.150958372C>T | CA040086 | KCNH2 | n.1436G>A c.603G>A (p.Thr201=) c.255G>A (p.Thr85=) n.826G>A c.303G>A (p.Thr101=) c.453G>A (p.Thr151=) c.426G>A (p.Thr142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958373G>A | CA008625 | KCNH2 | n.1435C>T c.602C>T (p.Thr201Met) c.254C>T (p.Thr85Met) n.825C>T c.302C>T (p.Thr101Met) c.452C>T (p.Thr151Met) c.425C>T (p.Thr142Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958373G>C | CA369863146 | KCNH2 | n.1435C>G c.602C>G (p.Thr201Arg) c.254C>G (p.Thr85Arg) n.825C>G c.302C>G (p.Thr101Arg) c.452C>G (p.Thr151Arg) c.425C>G (p.Thr142Arg) | gnomAD v4 |
| 7 | g.150958373G= | CA1752418539 | KCNH2 | n.1435C= c.602C= (p.Thr201=) c.254C= (p.Thr85=) n.825C= c.302C= (p.Thr101=) c.452C= (p.Thr151=) c.425C= (p.Thr142=) | |
| 7 | g.150958373G>T | CA369863143 | KCNH2 | n.1435C>A c.602C>A (p.Thr201Lys) c.254C>A (p.Thr85Lys) n.825C>A c.302C>A (p.Thr101Lys) c.452C>A (p.Thr151Lys) c.425C>A (p.Thr142Lys) | ClinVar gnomAD v4 |
| 7 | g.150958374T>A | CA369863148 | KCNH2 | n.1434A>T c.601A>T (p.Thr201Ser) c.253A>T (p.Thr85Ser) n.824A>T c.301A>T (p.Thr101Ser) c.451A>T (p.Thr151Ser) c.424A>T (p.Thr142Ser) | |
| 7 | g.150958374T>C | CA369863150 | KCNH2 | n.1434A>G c.601A>G (p.Thr201Ala) c.253A>G (p.Thr85Ala) n.824A>G c.301A>G (p.Thr101Ala) c.451A>G (p.Thr151Ala) c.424A>G (p.Thr142Ala) | gnomAD v4 |
| 7 | g.150958374T>G | CA369863152 | KCNH2 | n.1434A>C c.601A>C (p.Thr201Pro) c.253A>C (p.Thr85Pro) n.824A>C c.301A>C (p.Thr101Pro) c.451A>C (p.Thr151Pro) c.424A>C (p.Thr142Pro) | gnomAD v4 |
| 7 | g.150958375C>A | CA458646657 | KCNH2 | n.1433G>T c.600G>T (p.Leu200=) c.252G>T (p.Leu84=) n.823G>T c.300G>T (p.Leu100=) c.450G>T (p.Leu150=) c.423G>T (p.Leu141=) | gnomAD v4 |
| 7 | g.150958375C>G | CA458646659 | KCNH2 | n.1433G>C c.600G>C (p.Leu200=) c.252G>C (p.Leu84=) n.823G>C c.300G>C (p.Leu100=) c.450G>C (p.Leu150=) c.423G>C (p.Leu141=) | |
| 7 | g.150958375C>T | CA071784 | KCNH2 | n.1433G>A c.600G>A (p.Leu200=) c.252G>A (p.Leu84=) n.823G>A c.300G>A (p.Leu100=) c.450G>A (p.Leu150=) c.423G>A (p.Leu141=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958376A= | CA1752418542 | KCNH2 | n.1432T= c.599T= (p.Leu200=) c.251T= (p.Leu84=) n.822T= c.299T= (p.Leu100=) c.449T= (p.Leu150=) c.422T= (p.Leu141=) | |
| 7 | g.150958376A>C | CA369863154 | KCNH2 | n.1432T>G c.599T>G (p.Leu200Arg) c.251T>G (p.Leu84Arg) n.822T>G c.299T>G (p.Leu100Arg) c.449T>G (p.Leu150Arg) c.422T>G (p.Leu141Arg) | |
| 7 | g.150958376A>G | CA369863156 | KCNH2 | n.1432T>C c.599T>C (p.Leu200Pro) c.251T>C (p.Leu84Pro) n.822T>C c.299T>C (p.Leu100Pro) c.449T>C (p.Leu150Pro) c.422T>C (p.Leu141Pro) | gnomAD v4 |
| 7 | g.150958376A>T | CA040069 | KCNH2 | n.1432T>A c.599T>A (p.Leu200Gln) c.251T>A (p.Leu84Gln) n.822T>A c.299T>A (p.Leu100Gln) c.449T>A (p.Leu150Gln) c.422T>A (p.Leu141Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958377G>A | CA16605175 | KCNH2 | n.1431C>T c.598C>T (p.Leu200=) c.250C>T (p.Leu84=) n.821C>T c.298C>T (p.Leu100=) c.448C>T (p.Leu150=) c.421C>T (p.Leu141=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958377G>C | CA369863159 | KCNH2 | n.1431C>G c.598C>G (p.Leu200Val) c.250C>G (p.Leu84Val) n.821C>G c.298C>G (p.Leu100Val) c.448C>G (p.Leu150Val) c.421C>G (p.Leu141Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958377G= | CA1752418545 | KCNH2 | n.1431C= c.598C= (p.Leu200=) c.250C= (p.Leu84=) n.821C= c.298C= (p.Leu100=) c.448C= (p.Leu150=) c.421C= (p.Leu141=) | |
| 7 | g.150958377G>T | CA369863161 | KCNH2 | n.1431C>A c.598C>A (p.Leu200Met) c.250C>A (p.Leu84Met) n.821C>A c.298C>A (p.Leu100Met) c.448C>A (p.Leu150Met) c.421C>A (p.Leu141Met) | gnomAD v4 |
| 7 | g.150958378G>A | CA458646664 | KCNH2 | n.1430C>T c.597C>T (p.Asp199=) c.249C>T (p.Asp83=) n.820C>T c.297C>T (p.Asp99=) c.447C>T (p.Asp149=) c.420C>T (p.Asp140=) | gnomAD v4 |
| 7 | g.150958378G>C | CA369863163 | KCNH2 | n.1430C>G c.597C>G (p.Asp199Glu) c.249C>G (p.Asp83Glu) n.820C>G c.297C>G (p.Asp99Glu) c.447C>G (p.Asp149Glu) c.420C>G (p.Asp140Glu) | ClinVar |
| 7 | g.150958378G>T | CA369863164 | KCNH2 | n.1430C>A c.597C>A (p.Asp199Glu) c.249C>A (p.Asp83Glu) n.820C>A c.297C>A (p.Asp99Glu) c.447C>A (p.Asp149Glu) c.420C>A (p.Asp140Glu) | gnomAD v4 |
| 7 | g.150958379T>A | CA369863167 | KCNH2 | n.1429A>T c.596A>T (p.Asp199Val) c.248A>T (p.Asp83Val) n.819A>T c.296A>T (p.Asp99Val) c.446A>T (p.Asp149Val) c.419A>T (p.Asp140Val) | |
| 7 | g.150958379T>C | CA369863168 | KCNH2 | n.1429A>G c.596A>G (p.Asp199Gly) c.248A>G (p.Asp83Gly) n.819A>G c.296A>G (p.Asp99Gly) c.446A>G (p.Asp149Gly) c.419A>G (p.Asp140Gly) | gnomAD v4 |
| 7 | g.150958379T>G | CA040055 | KCNH2 | n.1429A>C c.596A>C (p.Asp199Ala) c.248A>C (p.Asp83Ala) n.819A>C c.296A>C (p.Asp99Ala) c.446A>C (p.Asp149Ala) c.419A>C (p.Asp140Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958379T= | CA1752418549 | KCNH2 | n.1429A= c.596A= (p.Asp199=) c.248A= (p.Asp83=) n.819A= c.296A= (p.Asp99=) c.446A= (p.Asp149=) c.419A= (p.Asp140=) | |
| 7 | g.150958380C>A | CA369863173 | KCNH2 | n.1428G>T c.595G>T (p.Asp199Tyr) c.247G>T (p.Asp83Tyr) n.818G>T c.295G>T (p.Asp99Tyr) c.445G>T (p.Asp149Tyr) c.418G>T (p.Asp140Tyr) | gnomAD v4 |
| 7 | g.150958380C>G | CA071979 | KCNH2 | n.1428G>C c.595G>C (p.Asp199His) c.247G>C (p.Asp83His) n.818G>C c.295G>C (p.Asp99His) c.445G>C (p.Asp149His) c.418G>C (p.Asp140His) | |
| 7 | g.150958380C>T | CA071975 | KCNH2 | n.1428G>A c.595G>A (p.Asp199Asn) c.247G>A (p.Asp83Asn) n.818G>A c.295G>A (p.Asp99Asn) c.445G>A (p.Asp149Asn) c.418G>A (p.Asp140Asn) | gnomAD v4 |
| 7 | g.150958381C>A | CA458646670 | KCNH2 | n.1427G>T c.594G>T (p.Val198=) c.246G>T (p.Val82=) n.817G>T c.294G>T (p.Val98=) c.444G>T (p.Val148=) c.417G>T (p.Val139=) | gnomAD v4 |
| 7 | g.150958381C>G | CA458646673 | KCNH2 | n.1427G>C c.594G>C (p.Val198=) c.246G>C (p.Val82=) n.817G>C c.294G>C (p.Val98=) c.444G>C (p.Val148=) c.417G>C (p.Val139=) | |
| 7 | g.150958381C>T | CA458646671 | KCNH2 | n.1427G>A c.594G>A (p.Val198=) c.246G>A (p.Val82=) n.817G>A c.294G>A (p.Val98=) c.444G>A (p.Val148=) c.417G>A (p.Val139=) | gnomAD v4 |
| 7 | g.150958382A>C | CA369863174 | KCNH2 | n.1426T>G c.593T>G (p.Val198Gly) c.245T>G (p.Val82Gly) n.816T>G c.293T>G (p.Val98Gly) c.443T>G (p.Val148Gly) c.416T>G (p.Val139Gly) | |
| 7 | g.150958382A>G | CA369863176 | KCNH2 | n.1426T>C c.593T>C (p.Val198Ala) c.245T>C (p.Val82Ala) n.816T>C c.293T>C (p.Val98Ala) c.443T>C (p.Val148Ala) c.416T>C (p.Val139Ala) | gnomAD v4 |
| 7 | g.150958382A>T | CA369863178 | KCNH2 | n.1426T>A c.593T>A (p.Val198Glu) c.245T>A (p.Val82Glu) n.816T>A c.293T>A (p.Val98Glu) c.443T>A (p.Val148Glu) c.416T>A (p.Val139Glu) | gnomAD v4 |
| 7 | g.150958383C>A | CA369863180 | KCNH2 | n.1425G>T c.592G>T (p.Val198Leu) c.244G>T (p.Val82Leu) n.815G>T c.292G>T (p.Val98Leu) c.442G>T (p.Val148Leu) c.415G>T (p.Val139Leu) | dbSNP gnomAD v4 |
| 7 | g.150958383C= | CA1752418553 | KCNH2 | n.1425G= c.592G= (p.Val198=) c.244G= (p.Val82=) n.815G= c.292G= (p.Val98=) c.442G= (p.Val148=) c.415G= (p.Val139=) | |
| 7 | g.150958383C>G | CA040043 | KCNH2 | n.1425G>C c.592G>C (p.Val198Leu) c.244G>C (p.Val82Leu) n.815G>C c.292G>C (p.Val98Leu) c.442G>C (p.Val148Leu) c.415G>C (p.Val139Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958383C>T | CA369863183 | KCNH2 | n.1425G>A c.592G>A (p.Val198Met) c.244G>A (p.Val82Met) n.815G>A c.292G>A (p.Val98Met) c.442G>A (p.Val148Met) c.415G>A (p.Val139Met) | gnomAD v4 |
| 7 | g.150958384G>A | CA458646678 | KCNH2 | n.1424C>T c.591C>T (p.Asp197=) c.243C>T (p.Asp81=) n.814C>T c.291C>T (p.Asp97=) c.441C>T (p.Asp147=) c.414C>T (p.Asp138=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.150958384G>C | CA369863185 | KCNH2 | n.1424C>G c.591C>G (p.Asp197Glu) c.243C>G (p.Asp81Glu) n.814C>G c.291C>G (p.Asp97Glu) c.441C>G (p.Asp147Glu) c.414C>G (p.Asp138Glu) | gnomAD v4 |
| 7 | g.150958384G>T | CA369863187 | KCNH2 | n.1424C>A c.591C>A (p.Asp197Glu) c.243C>A (p.Asp81Glu) n.814C>A c.291C>A (p.Asp97Glu) c.441C>A (p.Asp147Glu) c.414C>A (p.Asp138Glu) | gnomAD v4 |
| 7 | g.150958385T>A | CA369863189 | KCNH2 | n.1423A>T c.590A>T (p.Asp197Val) c.242A>T (p.Asp81Val) n.813A>T c.290A>T (p.Asp97Val) c.440A>T (p.Asp147Val) c.413A>T (p.Asp138Val) | gnomAD v4 |
| 7 | g.150958385T>C | CA369863190 | KCNH2 | n.1423A>G c.590A>G (p.Asp197Gly) c.242A>G (p.Asp81Gly) n.813A>G c.290A>G (p.Asp97Gly) c.440A>G (p.Asp147Gly) c.413A>G (p.Asp138Gly) | gnomAD v4 |
| 7 | g.150958385T>G | CA369863191 | KCNH2 | n.1423A>C c.590A>C (p.Asp197Ala) c.242A>C (p.Asp81Ala) n.813A>C c.290A>C (p.Asp97Ala) c.440A>C (p.Asp147Ala) c.413A>C (p.Asp138Ala) | |
| 7 | g.150958386C>A | CA369863194 | KCNH2 | n.1422G>T c.589G>T (p.Asp197Tyr) c.241G>T (p.Asp81Tyr) n.812G>T c.289G>T (p.Asp97Tyr) c.439G>T (p.Asp147Tyr) c.412G>T (p.Asp138Tyr) | gnomAD v4 |
| 7 | g.150958386C= | CA1752418557 | KCNH2 | n.1422G= c.589G= (p.Asp197=) c.241G= (p.Asp81=) n.812G= c.289G= (p.Asp97=) c.439G= (p.Asp147=) c.412G= (p.Asp138=) | |
| 7 | g.150958386C>G | CA369863196 | KCNH2 | n.1422G>C c.589G>C (p.Asp197His) c.241G>C (p.Asp81His) n.812G>C c.289G>C (p.Asp97His) c.439G>C (p.Asp147His) c.412G>C (p.Asp138His) | |
| 7 | g.150958386C>T | CA369863197 | KCNH2 | n.1422G>A c.589G>A (p.Asp197Asn) c.241G>A (p.Asp81Asn) n.812G>A c.289G>A (p.Asp97Asn) c.439G>A (p.Asp147Asn) c.412G>A (p.Asp138Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958386_150958387del | CA2685608539 | KCNH2 | n.1421_1422del c.588_589del (p.Asp197ArgfsTer?) c.240_241del (p.Asp81ArgfsTer?) n.811_812del c.288_289del (p.Asp97ArgfsTer?) c.438_439del (p.Asp147ArgfsTer?) c.411_412del (p.Asp138ArgfsTer?) | gnomAD v4 |
| 7 | g.150958387C>A | CA458646685 | KCNH2 | n.1421G>T c.588G>T (p.Val196=) c.240G>T (p.Val80=) n.811G>T c.288G>T (p.Val96=) c.438G>T (p.Val146=) c.411G>T (p.Val137=) | gnomAD v4 |
| 7 | g.150958387C>G | CA458646687 | KCNH2 | n.1421G>C c.588G>C (p.Val196=) c.240G>C (p.Val80=) n.811G>C c.288G>C (p.Val96=) c.438G>C (p.Val146=) c.411G>C (p.Val137=) | |
| 7 | g.150958387C>T | CA458646689 | KCNH2 | n.1421G>A c.588G>A (p.Val196=) c.240G>A (p.Val80=) n.811G>A c.288G>A (p.Val96=) c.438G>A (p.Val146=) c.411G>A (p.Val137=) | gnomAD v4 |
| 7 | g.150958388A= | CA1752418560 | KCNH2 | n.1420T= c.587T= (p.Val196=) c.239T= (p.Val80=) n.810T= c.287T= (p.Val96=) c.437T= (p.Val146=) c.410T= (p.Val137=) | |
| 7 | g.150958388A>C | CA369863200 | KCNH2 | n.1420T>G c.587T>G (p.Val196Gly) c.239T>G (p.Val80Gly) n.810T>G c.287T>G (p.Val96Gly) c.437T>G (p.Val146Gly) c.410T>G (p.Val137Gly) | |
| 7 | g.150958388A>G | CA369863202 | KCNH2 | n.1420T>C c.587T>C (p.Val196Ala) c.239T>C (p.Val80Ala) n.810T>C c.287T>C (p.Val96Ala) c.437T>C (p.Val146Ala) c.410T>C (p.Val137Ala) | |
| 7 | g.150958388A>T | CA369863199 | KCNH2 | n.1420T>A c.587T>A (p.Val196Glu) c.239T>A (p.Val80Glu) n.810T>A c.287T>A (p.Val96Glu) c.437T>A (p.Val146Glu) c.410T>A (p.Val137Glu) | dbSNP gnomAD v2 |
| 7 | g.150958389C>A | CA369863204 | KCNH2 | n.1419G>T c.586G>T (p.Val196Leu) c.238G>T (p.Val80Leu) n.809G>T c.286G>T (p.Val96Leu) c.436G>T (p.Val146Leu) c.409G>T (p.Val137Leu) | gnomAD v4 |
| 7 | g.150958389C>G | CA369863205 | KCNH2 | n.1419G>C c.586G>C (p.Val196Leu) c.238G>C (p.Val80Leu) n.809G>C c.286G>C (p.Val96Leu) c.436G>C (p.Val146Leu) c.409G>C (p.Val137Leu) | |
| 7 | g.150958389C>T | CA369863207 | KCNH2 | n.1419G>A c.586G>A (p.Val196Met) c.238G>A (p.Val80Met) n.809G>A c.286G>A (p.Val96Met) c.436G>A (p.Val146Met) c.409G>A (p.Val137Met) | gnomAD v4 |
| 7 | g.150958390C>A | CA458646694 | KCNH2 | n.1418G>T c.585G>T (p.Val195=) c.237G>T (p.Val79=) n.808G>T c.285G>T (p.Val95=) c.435G>T (p.Val145=) c.408G>T (p.Val136=) | gnomAD v4 |
| 7 | g.150958390C>G | CA458646696 | KCNH2 | n.1418G>C c.585G>C (p.Val195=) c.237G>C (p.Val79=) n.808G>C c.285G>C (p.Val95=) c.435G>C (p.Val145=) c.408G>C (p.Val136=) | gnomAD v4 |
| 7 | g.150958390C>T | CA458646697 | KCNH2 | n.1418G>A c.585G>A (p.Val195=) c.237G>A (p.Val79=) n.808G>A c.285G>A (p.Val95=) c.435G>A (p.Val145=) c.408G>A (p.Val136=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958391A>C | CA369863209 | KCNH2 | n.1417T>G c.584T>G (p.Val195Gly) c.236T>G (p.Val79Gly) n.807T>G c.284T>G (p.Val95Gly) c.434T>G (p.Val145Gly) c.407T>G (p.Val136Gly) | |
| 7 | g.150958391A>G | CA369863211 | KCNH2 | n.1417T>C c.584T>C (p.Val195Ala) c.236T>C (p.Val79Ala) n.807T>C c.284T>C (p.Val95Ala) c.434T>C (p.Val145Ala) c.407T>C (p.Val136Ala) | gnomAD v4 |
| 7 | g.150958391A>T | CA369863213 | KCNH2 | n.1417T>A c.584T>A (p.Val195Glu) c.236T>A (p.Val79Glu) n.807T>A c.284T>A (p.Val95Glu) c.434T>A (p.Val145Glu) c.407T>A (p.Val136Glu) | gnomAD v4 |
| 7 | g.150958392C>A | CA369863214 | KCNH2 | n.1416G>T c.583G>T (p.Val195Leu) c.235G>T (p.Val79Leu) n.806G>T c.283G>T (p.Val95Leu) c.433G>T (p.Val145Leu) c.406G>T (p.Val136Leu) | gnomAD v4 |
| 7 | g.150958392C= | CA1752418564 | KCNH2 | n.1416G= c.583G= (p.Val195=) c.235G= (p.Val79=) n.806G= c.283G= (p.Val95=) c.433G= (p.Val145=) c.406G= (p.Val136=) | |
| 7 | g.150958392C>G | CA369863216 | KCNH2 | n.1416G>C c.583G>C (p.Val195Leu) c.235G>C (p.Val79Leu) n.806G>C c.283G>C (p.Val95Leu) c.433G>C (p.Val145Leu) c.406G>C (p.Val136Leu) | gnomAD v4 |
| 7 | g.150958392C>T | CA369863218 | KCNH2 | n.1416G>A c.583G>A (p.Val195Met) c.235G>A (p.Val79Met) n.806G>A c.283G>A (p.Val95Met) c.433G>A (p.Val145Met) c.406G>A (p.Val136Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958393del | CA2685608553 | KCNH2 | n.1416del c.583del (p.Val195TrpfsTer6) c.235del n.806del c.283del (p.Val95TrpfsTer6) c.433del (p.Val145TrpfsTer6) c.406del (p.Val136TrpfsTer6) | gnomAD v4 |
| 7 | g.150958393C>A | CA369863220 | KCNH2 | n.1415G>T c.582G>T (p.Val194=) c.235-1G>T (n.235-1G>T) n.805G>T c.282G>T (p.Val94=) c.432G>T (p.Val144=) c.405G>T (p.Val135=) | gnomAD v4 |
| 7 | g.150958393C>G | CA369863222 | KCNH2 | n.1415G>C c.582G>C (p.Val194=) c.235-1G>C (n.235-1G>C) n.805G>C c.282G>C (p.Val94=) c.432G>C (p.Val144=) c.405G>C (p.Val135=) | |
| 7 | g.150958393C>T | CA369863224 | KCNH2 | n.1415G>A c.582G>A (p.Val194=) c.235-1G>A (n.235-1G>A) n.805G>A c.282G>A (p.Val94=) c.432G>A (p.Val144=) c.405G>A (p.Val135=) | gnomAD v4 |
| 7 | g.150958394_150958398del | CA658761342 | KCNH2 | n.1411_1415del c.578_582del (p.Ala193GlyfsTer?) c.235-5_235-1del (n.235-5_235-1del) n.801_805del c.278_282del (p.Ala93GlyfsTer?) c.428_432del (p.Ala143GlyfsTer?) c.401_405del (p.Ala134GlyfsTer?) | |
| 7 | g.150958394A>C | CA369863229 | KCNH2 | n.1414T>G c.581T>G (p.Val194Gly) c.235-2T>G (n.235-2T>G) n.804T>G c.281T>G (p.Val94Gly) c.431T>G (p.Val144Gly) c.404T>G (p.Val135Gly) | |
| 7 | g.150958394A>G | CA369863227 | KCNH2 | n.1414T>C c.581T>C (p.Val194Ala) c.235-2T>C (n.235-2T>C) n.804T>C c.281T>C (p.Val94Ala) c.431T>C (p.Val144Ala) c.404T>C (p.Val135Ala) | gnomAD v4 |
| 7 | g.150958394A>T | CA369863226 | KCNH2 | n.1414T>A c.581T>A (p.Val194Glu) c.235-2T>A (n.235-2T>A) n.804T>A c.281T>A (p.Val94Glu) c.431T>A (p.Val144Glu) c.404T>A (p.Val135Glu) | |
| 7 | g.150958394_150958422delinsCCCGGT | CA2499218813 | KCNH2 | n.1386_1414delinsACCGGG c.553_581delinsACCGGG (p.Ala185ThrfsTer?) c.235-30_235-2delinsACCGGG (n.235-30_235-2delinsACCGGG) n.776_804delinsACCGGG c.253_281delinsACCGGG (p.Ala85ThrfsTer?) c.403_431delinsACCGGG (p.Ala135ThrfsTer?) c.376_404delinsACCGGG (p.Ala126ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150958395C>A | CA369863232 | KCNH2 | n.1413G>T c.580G>T (p.Val194Leu) c.235-3G>T (n.235-3G>T) n.803G>T c.280G>T (p.Val94Leu) c.430G>T (p.Val144Leu) c.403G>T (p.Val135Leu) | ClinVar gnomAD v4 |
| 7 | g.150958395C= | CA1752418567 | KCNH2 | n.1413G= c.580G= (p.Val194=) c.235-3G= (n.235-3G=) n.803G= c.280G= (p.Val94=) c.430G= (p.Val144=) c.403G= (p.Val135=) | |
| 7 | g.150958395C>G | CA369863234 | KCNH2 | n.1413G>C c.580G>C (p.Val194Leu) c.235-3G>C (n.235-3G>C) n.803G>C c.280G>C (p.Val94Leu) c.430G>C (p.Val144Leu) c.403G>C (p.Val135Leu) | |
| 7 | g.150958395C>T | CA369863236 | KCNH2 | n.1413G>A c.580G>A (p.Val194Met) c.235-3G>A (n.235-3G>A) n.803G>A c.280G>A (p.Val94Met) c.430G>A (p.Val144Met) c.403G>A (p.Val135Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958396G>A | CA040032 | KCNH2 | n.1412C>T c.579C>T (p.Ala193=) c.235-4C>T (n.235-4C>T) n.802C>T c.279C>T (p.Ala93=) c.429C>T (p.Ala143=) c.402C>T (p.Ala134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958396G>C | CA458646707 | KCNH2 | n.1412C>G c.579C>G (p.Ala193=) c.235-4C>G (n.235-4C>G) n.802C>G c.279C>G (p.Ala93=) c.429C>G (p.Ala143=) c.402C>G (p.Ala134=) | |
| 7 | g.150958396G= | CA1752418574 | KCNH2 | n.1412C= c.579C= (p.Ala193=) c.235-4C= (n.235-4C=) n.802C= c.279C= (p.Ala93=) c.429C= (p.Ala143=) c.402C= (p.Ala134=) | |
| 7 | g.150958396G>T | CA458646709 | KCNH2 | n.1412C>A c.579C>A (p.Ala193=) c.235-4C>A (n.235-4C>A) n.802C>A c.279C>A (p.Ala93=) c.429C>A (p.Ala143=) c.402C>A (p.Ala134=) | gnomAD v4 |
| 7 | g.150958399_150958407dup | CA1752418572 | KCNH2 | n.1404_1412dup c.571_579dup (p.Ala193_Val194insProGlyAla) c.235-12_235-4dup (n.235-12_235-4dup) n.794_802dup c.271_279dup (p.Ala93_Val94insProGlyAla) c.421_429dup (p.Ala143_Val144insProGlyAla) c.394_402dup (p.Ala134_Val135insProGlyAla) | ClinVar dbSNP |
| 7 | g.150958399_150958407del | CA2685608560 | KCNH2 | n.1404_1412del c.571_579del (p.Pro191_Ala193del) c.235-12_235-4del (n.235-12_235-4del) n.794_802del c.271_279del (p.Pro91_Ala93del) c.421_429del (p.Pro141_Ala143del) c.394_402del (p.Pro132_Ala134del) | gnomAD v4 |
| 7 | g.150958397G>A | CA169081428 | KCNH2 | n.1411C>T c.578C>T (p.Ala193Val) c.235-5C>T (n.235-5C>T) n.801C>T c.278C>T (p.Ala93Val) c.428C>T (p.Ala143Val) c.401C>T (p.Ala134Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958397G>C | CA369863239 | KCNH2 | n.1411C>G c.578C>G (p.Ala193Gly) c.235-5C>G (n.235-5C>G) n.801C>G c.278C>G (p.Ala93Gly) c.428C>G (p.Ala143Gly) c.401C>G (p.Ala134Gly) | gnomAD v4 |
| 7 | g.150958397G= | CA1752418576 | KCNH2 | n.1411C= c.578C= (p.Ala193=) c.235-5C= (n.235-5C=) n.801C= c.278C= (p.Ala93=) c.428C= (p.Ala143=) c.401C= (p.Ala134=) | |
| 7 | g.150958397G>T | CA369863241 | KCNH2 | n.1411C>A c.578C>A (p.Ala193Asp) c.235-5C>A (n.235-5C>A) n.801C>A c.278C>A (p.Ala93Asp) c.428C>A (p.Ala143Asp) c.401C>A (p.Ala134Asp) | gnomAD v4 |
| 7 | g.150958398C>A | CA369863243 | KCNH2 | n.1410G>T c.577G>T (p.Ala193Ser) c.235-6G>T (n.235-6G>T) n.800G>T c.277G>T (p.Ala93Ser) c.427G>T (p.Ala143Ser) c.400G>T (p.Ala134Ser) | gnomAD v4 |
| 7 | g.150958398C>G | CA369863244 | KCNH2 | n.1410G>C c.577G>C (p.Ala193Pro) c.235-6G>C (n.235-6G>C) n.800G>C c.277G>C (p.Ala93Pro) c.427G>C (p.Ala143Pro) c.400G>C (p.Ala134Pro) | |
| 7 | g.150958398C>T | CA369863246 | KCNH2 | n.1410G>A c.577G>A (p.Ala193Thr) c.235-6G>A (n.235-6G>A) n.800G>A c.277G>A (p.Ala93Thr) c.427G>A (p.Ala143Thr) c.400G>A (p.Ala134Thr) | gnomAD v4 |
| 7 | g.150958402dup | CA2685608572 | KCNH2 | n.1410dup c.577dup (p.Ala193GlyfsTer?) c.235-6dup (n.235-6dup) n.800dup c.277dup (p.Ala93GlyfsTer?) c.427dup (p.Ala143GlyfsTer?) c.400dup (p.Ala134GlyfsTer?) | gnomAD v4 |
| 7 | g.150958402del | CA579075492 | KCNH2 | n.1410del c.577del (p.Ala193ProfsTer8) c.235-6del (n.235-6del) n.800del c.277del (p.Ala93ProfsTer8) c.427del (p.Ala143ProfsTer8) c.400del (p.Ala134ProfsTer8) | gnomAD v2 gnomAD v4 |
| 7 | g.150958399_150958416del | CA2685608570 | KCNH2 | n.1393_1410del c.560_577del (p.Gly187_Gly192del) c.235-23_235-6del (n.235-23_235-6del) n.783_800del c.260_277del (p.Gly87_Gly92del) c.410_427del (p.Gly137_Gly142del) c.383_400del (p.Gly128_Gly133del) | gnomAD v4 |
| 7 | g.150958399C>A | CA458646715 | KCNH2 | n.1409G>T c.576G>T (p.Gly192=) c.235-7G>T (n.235-7G>T) n.799G>T c.276G>T (p.Gly92=) c.426G>T (p.Gly142=) c.399G>T (p.Gly133=) | |
| 7 | g.150958399C= | CA1752418578 | KCNH2 | n.1409G= c.576G= (p.Gly192=) c.235-7G= (n.235-7G=) n.799G= c.276G= (p.Gly92=) c.426G= (p.Gly142=) c.399G= (p.Gly133=) | |
| 7 | g.150958399C>G | CA458646716 | KCNH2 | n.1409G>C c.576G>C (p.Gly192=) c.235-7G>C (n.235-7G>C) n.799G>C c.276G>C (p.Gly92=) c.426G>C (p.Gly142=) c.399G>C (p.Gly133=) | |
| 7 | g.150958399C>T | CA458646718 | KCNH2 | n.1409G>A c.576G>A (p.Gly192=) c.235-7G>A (n.235-7G>A) n.799G>A c.276G>A (p.Gly92=) c.426G>A (p.Gly142=) c.399G>A (p.Gly133=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958400C>A | CA369863248 | KCNH2 | n.1408G>T c.575G>T (p.Gly192Val) c.235-8G>T (n.235-8G>T) n.798G>T c.275G>T (p.Gly92Val) c.425G>T (p.Gly142Val) c.398G>T (p.Gly133Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958400C= | CA1752418580 | KCNH2 | n.1408G= c.575G= (p.Gly192=) c.235-8G= (n.235-8G=) n.798G= c.275G= (p.Gly92=) c.425G= (p.Gly142=) c.398G= (p.Gly133=) | |
| 7 | g.150958400C>G | CA369863250 | KCNH2 | n.1408G>C c.575G>C (p.Gly192Ala) c.235-8G>C (n.235-8G>C) n.798G>C c.275G>C (p.Gly92Ala) c.425G>C (p.Gly142Ala) c.398G>C (p.Gly133Ala) | gnomAD v4 |
| 7 | g.150958400C>T | CA369863251 | KCNH2 | n.1408G>A c.575G>A (p.Gly192Glu) c.235-8G>A (n.235-8G>A) n.798G>A c.275G>A (p.Gly92Glu) c.425G>A (p.Gly142Glu) c.398G>A (p.Gly133Glu) | |
| 7 | g.150958404_150958412dup | CA835203817 | KCNH2 | n.1400_1408dup c.567_575dup (p.Gly192_Ala193insAlaProGly) c.235-16_235-8dup (n.235-16_235-8dup) n.790_798dup c.267_275dup (p.Gly92_Ala93insAlaProGly) c.417_425dup (p.Gly142_Ala143insAlaProGly) c.390_398dup (p.Gly133_Ala134insAlaProGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958404_150958412del | CA2685608579 | KCNH2 | n.1400_1408del c.567_575del (p.Ala190_Gly192del) c.235-16_235-8del (n.235-16_235-8del) n.790_798del c.267_275del (p.Ala90_Gly92del) c.417_425del (p.Ala140_Gly142del) c.390_398del (p.Ala131_Gly133del) | gnomAD v4 |
| 7 | g.150958404_150958421del | CA2685608581 | KCNH2 | n.1391_1408del c.558_575del (p.Gly187_Gly192del) c.235-25_235-8del (n.235-25_235-8del) n.781_798del c.258_275del (p.Gly87_Gly92del) c.408_425del (p.Gly137_Gly142del) c.381_398del (p.Gly128_Gly133del) | gnomAD v4 |
| 7 | g.150958401C>A | CA369863255 | KCNH2 | n.1407G>T c.574G>T (p.Gly192Trp) c.235-9G>T (n.235-9G>T) n.797G>T c.274G>T (p.Gly92Trp) c.424G>T (p.Gly142Trp) c.397G>T (p.Gly133Trp) | gnomAD v4 |
| 7 | g.150958401C>G | CA369863257 | KCNH2 | n.1407G>C c.574G>C (p.Gly192Arg) c.235-9G>C (n.235-9G>C) n.797G>C c.274G>C (p.Gly92Arg) c.424G>C (p.Gly142Arg) c.397G>C (p.Gly133Arg) | gnomAD v4 |
| 7 | g.150958401C>T | CA369863254 | KCNH2 | n.1407G>A c.574G>A (p.Gly192Arg) c.235-9G>A (n.235-9G>A) n.797G>A c.274G>A (p.Gly92Arg) c.424G>A (p.Gly142Arg) c.397G>A (p.Gly133Arg) | gnomAD v4 |
| 7 | g.150958402C>A | CA458646726 | KCNH2 | n.1406G>T c.573G>T (p.Pro191=) c.235-10G>T (n.235-10G>T) n.796G>T c.273G>T (p.Pro91=) c.423G>T (p.Pro141=) c.396G>T (p.Pro132=) | gnomAD v4 |
| 7 | g.150958402C= | CA1752418583 | KCNH2 | n.1406G= c.573G= (p.Pro191=) c.235-10G= (n.235-10G=) n.796G= c.273G= (p.Pro91=) c.423G= (p.Pro141=) c.396G= (p.Pro132=) | |
| 7 | g.150958402C>G | CA169081436 | KCNH2 | n.1406G>C c.573G>C (p.Pro191=) c.235-10G>C (n.235-10G>C) n.796G>C c.273G>C (p.Pro91=) c.423G>C (p.Pro141=) c.396G>C (p.Pro132=) | dbSNP gnomAD v4 |
| 7 | g.150958402C>T | CA458646724 | KCNH2 | n.1406G>A c.573G>A (p.Pro191=) c.235-10G>A (n.235-10G>A) n.796G>A c.273G>A (p.Pro91=) c.423G>A (p.Pro141=) c.396G>A (p.Pro132=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958402_150958403delinsCG | CA1752418585 | KCNH2 | n.1405_1406delinsCG c.572_573delinsCG (p.Pro191=) c.235-11_235-10delinsCG (n.235-11_235-10delinsCG) n.795_796delinsCG c.272_273delinsCG (p.Pro91=) c.422_423delinsCG (p.Pro141=) c.395_396delinsCG (p.Pro132=) | |
| 7 | g.150958403G>A | CA369863259 | KCNH2 | n.1405C>T c.572C>T (p.Pro191Leu) c.235-11C>T (n.235-11C>T) n.795C>T c.272C>T (p.Pro91Leu) c.422C>T (p.Pro141Leu) c.395C>T (p.Pro132Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958403G>C | CA369863262 | KCNH2 | n.1405C>G c.572C>G (p.Pro191Arg) c.235-11C>G (n.235-11C>G) n.795C>G c.272C>G (p.Pro91Arg) c.422C>G (p.Pro141Arg) c.395C>G (p.Pro132Arg) | gnomAD v4 |
| 7 | g.150958403G= | CA1752418590 | KCNH2 | n.1405C= c.572C= (p.Pro191=) c.235-11C= (n.235-11C=) n.795C= c.272C= (p.Pro91=) c.422C= (p.Pro141=) c.395C= (p.Pro132=) | |
| 7 | g.150958403G>T | CA369863264 | KCNH2 | n.1405C>A c.572C>A (p.Pro191Gln) c.235-11C>A (n.235-11C>A) n.795C>A c.272C>A (p.Pro91Gln) c.422C>A (p.Pro141Gln) c.395C>A (p.Pro132Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958406del | CA008611 | KCNH2 | n.1405del c.572del (p.Pro191ArgfsTer10) c.235-11del (n.235-11del) n.795del c.272del (p.Pro91ArgfsTer10) c.422del (p.Pro141ArgfsTer10) c.395del (p.Pro132ArgfsTer10) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958404G>A | CA369863269 | KCNH2 | n.1404C>T c.571C>T (p.Pro191Ser) c.235-12C>T (n.235-12C>T) n.794C>T c.271C>T (p.Pro91Ser) c.421C>T (p.Pro141Ser) c.394C>T (p.Pro132Ser) | dbSNP gnomAD v4 |
| 7 | g.150958404G>C | CA369863266 | KCNH2 | n.1404C>G c.571C>G (p.Pro191Ala) c.235-12C>G (n.235-12C>G) n.794C>G c.271C>G (p.Pro91Ala) c.421C>G (p.Pro141Ala) c.394C>G (p.Pro132Ala) | ClinVar gnomAD v4 |
| 7 | g.150958404G= | CA1752418596 | KCNH2 | n.1404C= c.571C= (p.Pro191=) c.235-12C= (n.235-12C=) n.794C= c.271C= (p.Pro91=) c.421C= (p.Pro141=) c.394C= (p.Pro132=) | |
| 7 | g.150958404G>T | CA369863268 | KCNH2 | n.1404C>A c.571C>A (p.Pro191Thr) c.235-12C>A (n.235-12C>A) n.794C>A c.271C>A (p.Pro91Thr) c.421C>A (p.Pro141Thr) c.394C>A (p.Pro132Thr) | gnomAD v4 |
| 7 | g.150958404_150958413delinsGGGCGCCCGC | CA1752418595 | KCNH2 | n.1395_1404delinsGCGGGCGCCC c.562_571delinsGCGGGCGCCC (p.Ala188=) c.235-21_235-12delinsGCGGGCGCCC (n.235-21_235-12delinsGCGGGCGCCC) n.785_794delinsGCGGGCGCCC c.262_271delinsGCGGGCGCCC (p.Ala88=) c.412_421delinsGCGGGCGCCC (p.Ala138=) c.385_394delinsGCGGGCGCCC (p.Ala129=) | |
| 7 | g.150958405G>A | CA458646737 | KCNH2 | n.1403C>T c.570C>T (p.Ala190=) c.235-13C>T (n.235-13C>T) n.793C>T c.270C>T (p.Ala90=) c.420C>T (p.Ala140=) c.393C>T (p.Ala131=) | gnomAD v4 |
| 7 | g.150958405G>C | CA458646734 | KCNH2 | n.1403C>G c.570C>G (p.Ala190=) c.235-13C>G (n.235-13C>G) n.793C>G c.270C>G (p.Ala90=) c.420C>G (p.Ala140=) c.393C>G (p.Ala131=) | |
| 7 | g.150958405G>T | CA458646735 | KCNH2 | n.1403C>A c.570C>A (p.Ala190=) c.235-13C>A (n.235-13C>A) n.793C>A c.270C>A (p.Ala90=) c.420C>A (p.Ala140=) c.393C>A (p.Ala131=) | gnomAD v4 |
| 7 | g.150958406_150958414dup | CA2573141819 | KCNH2 | n.1395_1403dup c.562_570dup (p.Ala190_Pro191insAlaGlyAla) c.235-21_235-13dup (n.235-21_235-13dup) n.785_793dup c.262_270dup (p.Ala90_Pro91insAlaGlyAla) c.412_420dup (p.Ala140_Pro141insAlaGlyAla) c.385_393dup (p.Ala131_Pro132insAlaGlyAla) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958406_150958414del | CA579075493 | KCNH2 | n.1395_1403del c.562_570del (p.Ala188_Ala190del) c.235-21_235-13del (n.235-21_235-13del) n.785_793del c.262_270del (p.Ala88_Ala90del) c.412_420del (p.Ala138_Ala140del) c.385_393del (p.Ala129_Ala131del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958405_150958420delinsGGCGCCCGCGCCGCCC | CA1752418599 | KCNH2 | n.1388_1403delinsGGGCGGCGCGGGCGCC c.555_570delinsGGGCGGCGCGGGCGCC (p.Ala185=) c.235-28_235-13delinsGGGCGGCGCGGGCGCC (n.235-28_235-13delinsGGGCGGCGCGGGCGCC) n.778_793delinsGGGCGGCGCGGGCGCC c.255_270delinsGGGCGGCGCGGGCGCC (p.Ala85=) c.405_420delinsGGGCGGCGCGGGCGCC (p.Ala135=) c.378_393delinsGGGCGGCGCGGGCGCC (p.Ala126=) | |
| 7 | g.150958405_150958406insCGCCCGCGC | CA2695208643 | KCNH2 | n.1402_1403insGCGCGGGCG c.569_570insGCGCGGGCG (p.Ala190_Pro191insArgGlyArg) c.235-14_235-13insGCGCGGGCG (n.235-14_235-13insGCGCGGGCG) n.792_793insGCGCGGGCG c.269_270insGCGCGGGCG (p.Ala90_Pro91insArgGlyArg) c.419_420insGCGCGGGCG (p.Ala140_Pro141insArgGlyArg) c.392_393insGCGCGGGCG (p.Ala131_Pro132insArgGlyArg) | |
| 7 | g.150958406G>A | CA169081443 | KCNH2 | n.1402C>T c.569C>T (p.Ala190Val) c.235-14C>T (n.235-14C>T) n.792C>T c.269C>T (p.Ala90Val) c.419C>T (p.Ala140Val) c.392C>T (p.Ala131Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958406G>C | CA369863272 | KCNH2 | n.1402C>G c.569C>G (p.Ala190Gly) c.235-14C>G (n.235-14C>G) n.792C>G c.269C>G (p.Ala90Gly) c.419C>G (p.Ala140Gly) c.392C>G (p.Ala131Gly) | dbSNP gnomAD v4 |
| 7 | g.150958406G= | CA1752418604 | KCNH2 | n.1402C= c.569C= (p.Ala190=) c.235-14C= (n.235-14C=) n.792C= c.269C= (p.Ala90=) c.419C= (p.Ala140=) c.392C= (p.Ala131=) | |
| 7 | g.150958406G>T | CA369863274 | KCNH2 | n.1402C>A c.569C>A (p.Ala190Asp) c.235-14C>A (n.235-14C>A) n.792C>A c.269C>A (p.Ala90Asp) c.419C>A (p.Ala140Asp) c.392C>A (p.Ala131Asp) | |
| 7 | g.150958406_150958410delinsGCGCC | CA1752418606 | KCNH2 | n.1398_1402delinsGGCGC c.565_569delinsGGCGC (p.Gly189=) c.235-18_235-14delinsGGCGC (n.235-18_235-14delinsGGCGC) n.788_792delinsGGCGC c.265_269delinsGGCGC (p.Gly89=) c.415_419delinsGGCGC (p.Gly139=) c.388_392delinsGGCGC (p.Gly130=) | |
| 7 | g.150958406_150958415delinsGCGCCCGCGC | CA1752418602 | KCNH2 | n.1393_1402delinsGCGCGGGCGC c.560_569delinsGCGCGGGCGC (p.Gly187=) c.235-23_235-14delinsGCGCGGGCGC (n.235-23_235-14delinsGCGCGGGCGC) n.783_792delinsGCGCGGGCGC c.260_269delinsGCGCGGGCGC (p.Gly87=) c.410_419delinsGCGCGGGCGC (p.Gly137=) c.383_392delinsGCGCGGGCGC (p.Gly128=) | |
| 7 | g.150958411_150958425del | CA658656015 | KCNH2 | n.1388_1402del c.555_569del (p.Gly186_Ala190del) c.235-28_235-14del (n.235-28_235-14del) n.778_792del c.255_269del (p.Gly86_Ala90del) c.405_419del (p.Gly136_Ala140del) c.378_392del (p.Gly127_Ala131del) | ClinVar dbSNP |
| 7 | g.150958407C>A | CA369863280 | KCNH2 | n.1401G>T c.568G>T (p.Ala190Ser) c.235-15G>T (n.235-15G>T) n.791G>T c.268G>T (p.Ala90Ser) c.418G>T (p.Ala140Ser) c.391G>T (p.Ala131Ser) | ClinVar gnomAD v4 |
| 7 | g.150958407C= | CA1752418625 | KCNH2 | n.1401G= c.568G= (p.Ala190=) c.235-15G= (n.235-15G=) n.791G= c.268G= (p.Ala90=) c.418G= (p.Ala140=) c.391G= (p.Ala131=) | |
| 7 | g.150958407C>G | CA369863282 | KCNH2 | n.1401G>C c.568G>C (p.Ala190Pro) c.235-15G>C (n.235-15G>C) n.791G>C c.268G>C (p.Ala90Pro) c.418G>C (p.Ala140Pro) c.391G>C (p.Ala131Pro) | |
| 7 | g.150958407C>T | CA008604 | KCNH2 | n.1401G>A c.568G>A (p.Ala190Thr) c.235-15G>A (n.235-15G>A) n.791G>A c.268G>A (p.Ala90Thr) c.418G>A (p.Ala140Thr) c.391G>A (p.Ala131Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958410_150958413del | CA008597 | KCNH2 | n.1398_1401del c.565_568del (p.Gly189ProfsTer11) c.235-18_235-15del (n.235-18_235-15del) n.788_791del c.265_268del (p.Gly89ProfsTer11) c.415_418del (p.Gly139ProfsTer11) c.388_391del (p.Gly130ProfsTer11) | ClinVar dbSNP |
| 7 | g.150958422_150958430dup | CA305297 | KCNH2 | n.1393_1401dup c.560_568dup (p.Gly189_Ala190insGlyAlaGly) c.235-23_235-15dup (n.235-23_235-15dup) n.783_791dup c.260_268dup (p.Gly89_Ala90insGlyAlaGly) c.410_418dup (p.Gly139_Ala140insGlyAlaGly) c.383_391dup (p.Gly130_Ala131insGlyAlaGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958413_150958430dup | CA916080381 | KCNH2 | n.1384_1401dup c.551_568dup (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) c.235-32_235-15dup (n.235-32_235-15dup) n.774_791dup c.251_268dup (p.Gly89_Ala90insGlyAlaGlyGlyAlaGly) c.401_418dup (p.Gly139_Ala140insGlyAlaGlyGlyAlaGly) c.374_391dup (p.Gly130_Ala131insGlyAlaGlyGlyAlaGly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958422_150958430del | CA008582 | KCNH2 | n.1393_1401del c.560_568del (p.Gly187_Gly189del) c.235-23_235-15del (n.235-23_235-15del) n.783_791del c.260_268del (p.Gly87_Gly89del) c.410_418del (p.Gly137_Gly139del) c.383_391del (p.Gly128_Gly130del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958413_150958430del | CA2685608743 | KCNH2 | n.1384_1401del c.551_568del (p.Gly184_Gly189del) c.235-32_235-15del (n.235-32_235-15del) n.774_791del c.251_268del (p.Gly84_Gly89del) c.401_418del (p.Gly134_Gly139del) c.374_391del (p.Gly125_Gly130del) | gnomAD v4 |
| 7 | g.150958408del | CA2778426011 | KCNH2 | n.1400del c.567del (p.Ala190ProfsTer11) c.235-16del (n.235-16del) n.790del c.267del (p.Ala90ProfsTer11) c.417del (p.Ala140ProfsTer11) c.390del (p.Ala131ProfsTer11) | |
| 7 | g.150958408G>A | CA458646749 | KCNH2 | n.1400C>T c.567C>T (p.Gly189=) c.235-16C>T (n.235-16C>T) n.790C>T c.267C>T (p.Gly89=) c.417C>T (p.Gly139=) c.390C>T (p.Gly130=) | ClinVar gnomAD v4 |
| 7 | g.150958408G>C | CA458646750 | KCNH2 | n.1400C>G c.567C>G (p.Gly189=) c.235-16C>G (n.235-16C>G) n.790C>G c.267C>G (p.Gly89=) c.417C>G (p.Gly139=) c.390C>G (p.Gly130=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958408G>T | CA458646752 | KCNH2 | n.1400C>A c.567C>A (p.Gly189=) c.235-16C>A (n.235-16C>A) n.790C>A c.267C>A (p.Gly89=) c.417C>A (p.Gly139=) c.390C>A (p.Gly130=) | ClinVar gnomAD v4 |
| 7 | g.150958409C>A | CA369863291 | KCNH2 | n.1399G>T c.566G>T (p.Gly189Val) c.235-17G>T (n.235-17G>T) n.789G>T c.266G>T (p.Gly89Val) c.416G>T (p.Gly139Val) c.389G>T (p.Gly130Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958409C= | CA1752418632 | KCNH2 | n.1399G= c.566G= (p.Gly189=) c.235-17G= (n.235-17G=) n.789G= c.266G= (p.Gly89=) c.416G= (p.Gly139=) c.389G= (p.Gly130=) | |
| 7 | g.150958409C>G | CA369863287 | KCNH2 | n.1399G>C c.566G>C (p.Gly189Ala) c.235-17G>C (n.235-17G>C) n.789G>C c.266G>C (p.Gly89Ala) c.416G>C (p.Gly139Ala) c.389G>C (p.Gly130Ala) | dbSNP |
| 7 | g.150958409C>T | CA369863289 | KCNH2 | n.1399G>A c.566G>A (p.Gly189Asp) c.235-17G>A (n.235-17G>A) n.789G>A c.266G>A (p.Gly89Asp) c.416G>A (p.Gly139Asp) c.389G>A (p.Gly130Asp) | gnomAD v4 |
| 7 | g.150958411_150958412insCCCCCCCCCCCCC | CA1139770059 | KCNH2 | n.1399_1400insGGGGGGGGGGGGG c.566_567insGGGGGGGGGGGGG (p.Ala190GlyfsTer?) c.235-17_235-16insGGGGGGGGGGGGG (n.235-17_235-16insGGGGGGGGGGGGG) n.789_790insGGGGGGGGGGGGG c.266_267insGGGGGGGGGGGGG (p.Ala90GlyfsTer?) c.416_417insGGGGGGGGGGGGG (p.Ala140GlyfsTer?) c.389_390insGGGGGGGGGGGGG (p.Ala131GlyfsTer?) | |
| 7 | g.150958411del | CA2685608800 | KCNH2 | n.1399del c.566del (p.Gly189AlafsTer12) c.235-17del (n.235-17del) n.789del c.266del (p.Gly89AlafsTer12) c.416del (p.Gly139AlafsTer12) c.389del (p.Gly130AlafsTer12) | gnomAD v4 |
| 7 | g.150958409_150958418delinsGCGAA | CA2695208645 | KCNH2 | n.1390_1399delinsTTCGC c.557_566delinsTTCGC (p.Gly186ValfsTer?) c.235-26_235-17delinsTTCGC (n.235-26_235-17delinsTTCGC) n.780_789delinsTTCGC c.257_266delinsTTCGC (p.Gly86ValfsTer?) c.407_416delinsTTCGC (p.Gly136ValfsTer?) c.380_389delinsTTCGC (p.Gly127ValfsTer?) | |
| 7 | g.150958410C>A | CA369863293 | KCNH2 | n.1398G>T c.565G>T (p.Gly189Cys) c.235-18G>T (n.235-18G>T) n.788G>T c.265G>T (p.Gly89Cys) c.415G>T (p.Gly139Cys) c.388G>T (p.Gly130Cys) | gnomAD v4 |
| 7 | g.150958410C= | CA1752418635 | KCNH2 | n.1398G= c.565G= (p.Gly189=) c.235-18G= (n.235-18G=) n.788G= c.265G= (p.Gly89=) c.415G= (p.Gly139=) c.388G= (p.Gly130=) | |
| 7 | g.150958410C>G | CA369863295 | KCNH2 | n.1398G>C c.565G>C (p.Gly189Arg) c.235-18G>C (n.235-18G>C) n.788G>C c.265G>C (p.Gly89Arg) c.415G>C (p.Gly139Arg) c.388G>C (p.Gly130Arg) | |
| 7 | g.150958410C>T | CA369863296 | KCNH2 | n.1398G>A c.565G>A (p.Gly189Ser) c.235-18G>A (n.235-18G>A) n.788G>A c.265G>A (p.Gly89Ser) c.415G>A (p.Gly139Ser) c.388G>A (p.Gly130Ser) | gnomAD v4 |
| 7 | g.150958411C>A | CA458646758 | KCNH2 | n.1397G>T c.564G>T (p.Ala188=) c.235-19G>T (n.235-19G>T) n.787G>T c.264G>T (p.Ala88=) c.414G>T (p.Ala138=) c.387G>T (p.Ala129=) | gnomAD v4 |
| 7 | g.150958411C= | CA1752418640 | KCNH2 | n.1397G= c.564G= (p.Ala188=) c.235-19G= (n.235-19G=) n.787G= c.264G= (p.Ala88=) c.414G= (p.Ala138=) c.387G= (p.Ala129=) | |
| 7 | g.150958411C>G | CA458646761 | KCNH2 | n.1397G>C c.564G>C (p.Ala188=) c.235-19G>C (n.235-19G>C) n.787G>C c.264G>C (p.Ala88=) c.414G>C (p.Ala138=) c.387G>C (p.Ala129=) | |
| 7 | g.150958411C>T | CA458646759 | KCNH2 | n.1397G>A c.564G>A (p.Ala188=) c.235-19G>A (n.235-19G>A) n.787G>A c.264G>A (p.Ala88=) c.414G>A (p.Ala138=) c.387G>A (p.Ala129=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958414_150958415dup | CA1752418639 | KCNH2 | n.1396_1397dup c.563_564dup (p.Gly189ArgfsTer13) c.235-20_235-19dup (n.235-20_235-19dup) n.786_787dup c.263_264dup (p.Gly89ArgfsTer13) c.413_414dup (p.Gly139ArgfsTer13) c.386_387dup (p.Gly130ArgfsTer13) | dbSNP |
| 7 | g.150958414_150958415del | CA2695208646 | KCNH2 | n.1396_1397del c.563_564del (p.Ala188GlyfsTer?) c.235-20_235-19del (n.235-20_235-19del) n.786_787del c.263_264del (p.Ala88GlyfsTer?) c.413_414del (p.Ala138GlyfsTer?) c.386_387del (p.Ala129GlyfsTer?) | |
| 7 | g.150958412G>A | CA008591 | KCNH2 | n.1396C>T c.563C>T (p.Ala188Val) c.235-20C>T (n.235-20C>T) n.786C>T c.263C>T (p.Ala88Val) c.413C>T (p.Ala138Val) c.386C>T (p.Ala129Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958412G>C | CA369863297 | KCNH2 | n.1396C>G c.563C>G (p.Ala188Gly) c.235-20C>G (n.235-20C>G) n.786C>G c.263C>G (p.Ala88Gly) c.413C>G (p.Ala138Gly) c.386C>G (p.Ala129Gly) | |
| 7 | g.150958412G= | CA1752418645 | KCNH2 | n.1396C= c.563C= (p.Ala188=) c.235-20C= (n.235-20C=) n.786C= c.263C= (p.Ala88=) c.413C= (p.Ala138=) c.386C= (p.Ala129=) | |
| 7 | g.150958412G>T | CA369863299 | KCNH2 | n.1396C>A c.563C>A (p.Ala188Glu) c.235-20C>A (n.235-20C>A) n.786C>A c.263C>A (p.Ala88Glu) c.413C>A (p.Ala138Glu) c.386C>A (p.Ala129Glu) | gnomAD v4 |
| 7 | g.150958413C>A | CA369863301 | KCNH2 | n.1395G>T c.562G>T (p.Ala188Ser) c.235-21G>T (n.235-21G>T) n.785G>T c.262G>T (p.Ala88Ser) c.412G>T (p.Ala138Ser) c.385G>T (p.Ala129Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958413C= | CA1752418649 | KCNH2 | n.1395G= c.562G= (p.Ala188=) c.235-21G= (n.235-21G=) n.785G= c.262G= (p.Ala88=) c.412G= (p.Ala138=) c.385G= (p.Ala129=) | |
| 7 | g.150958413C>G | CA369863302 | KCNH2 | n.1395G>C c.562G>C (p.Ala188Pro) c.235-21G>C (n.235-21G>C) n.785G>C c.262G>C (p.Ala88Pro) c.412G>C (p.Ala138Pro) c.385G>C (p.Ala129Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958413C>T | CA369863303 | KCNH2 | n.1395G>A c.562G>A (p.Ala188Thr) c.235-21G>A (n.235-21G>A) n.785G>A c.262G>A (p.Ala88Thr) c.412G>A (p.Ala138Thr) c.385G>A (p.Ala129Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958414G>A | CA458646768 | KCNH2 | n.1394C>T c.561C>T (p.Gly187=) c.235-22C>T (n.235-22C>T) n.784C>T c.261C>T (p.Gly87=) c.411C>T (p.Gly137=) c.384C>T (p.Gly128=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.150958414G>C | CA458646770 | KCNH2 | n.1394C>G c.561C>G (p.Gly187=) c.235-22C>G (n.235-22C>G) n.784C>G c.261C>G (p.Gly87=) c.411C>G (p.Gly137=) c.384C>G (p.Gly128=) | ClinVar gnomAD v4 |
| 7 | g.150958414G>T | CA458646769 | KCNH2 | n.1394C>A c.561C>A (p.Gly187=) c.235-22C>A (n.235-22C>A) n.784C>A c.261C>A (p.Gly87=) c.411C>A (p.Gly137=) c.384C>A (p.Gly128=) | gnomAD v4 |
| 7 | g.150958415C>A | CA369863306 | KCNH2 | n.1393G>T c.560G>T (p.Gly187Val) c.235-23G>T (n.235-23G>T) n.783G>T c.260G>T (p.Gly87Val) c.410G>T (p.Gly137Val) c.383G>T (p.Gly128Val) | gnomAD v4 |
| 7 | g.150958415C= | CA1752418654 | KCNH2 | n.1393G= c.560G= (p.Gly187=) c.235-23G= (n.235-23G=) n.783G= c.260G= (p.Gly87=) c.410G= (p.Gly137=) c.383G= (p.Gly128=) | |
| 7 | g.150958415C>G | CA369863307 | KCNH2 | n.1393G>C c.560G>C (p.Gly187Ala) c.235-23G>C (n.235-23G>C) n.783G>C c.260G>C (p.Gly87Ala) c.410G>C (p.Gly137Ala) c.383G>C (p.Gly128Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958415C>T | CA369863309 | KCNH2 | n.1393G>A c.560G>A (p.Gly187Asp) c.235-23G>A (n.235-23G>A) n.783G>A c.260G>A (p.Gly87Asp) c.410G>A (p.Gly137Asp) c.383G>A (p.Gly128Asp) | gnomAD v4 |
| 7 | g.150958415_150958422del | CA2580077702 | KCNH2 | n.1386_1393del c.553_560del (p.Ala185ArgfsTer?) c.235-30_235-23del (n.235-30_235-23del) n.776_783del c.253_260del (p.Ala85ArgfsTer?) c.403_410del (p.Ala135ArgfsTer?) c.376_383del (p.Ala126ArgfsTer?) | ClinVar |
| 7 | g.150958418_150958430del | CA2580077703 | KCNH2 | n.1381_1393del c.548_560del (p.Gly183AlafsTer14) c.235-35_235-23del (n.235-35_235-23del) n.771_783del c.248_260del (p.Gly83AlafsTer14) c.398_410del (p.Gly133AlafsTer14) c.371_383del (p.Gly124AlafsTer14) | ClinVar |
| 7 | g.150958416C>A | CA369863311 | KCNH2 | n.1392G>T c.559G>T (p.Gly187Cys) c.235-24G>T (n.235-24G>T) n.782G>T c.259G>T (p.Gly87Cys) c.409G>T (p.Gly137Cys) c.382G>T (p.Gly128Cys) | ClinVar gnomAD v4 |
| 7 | g.150958416C= | CA1752418659 | KCNH2 | n.1392G= c.559G= (p.Gly187=) c.235-24G= (n.235-24G=) n.782G= c.259G= (p.Gly87=) c.409G= (p.Gly137=) c.382G= (p.Gly128=) | |
| 7 | g.150958416C>G | CA369863313 | KCNH2 | n.1392G>C c.559G>C (p.Gly187Arg) c.235-24G>C (n.235-24G>C) n.782G>C c.259G>C (p.Gly87Arg) c.409G>C (p.Gly137Arg) c.382G>C (p.Gly128Arg) | |
| 7 | g.150958416C>T | CA008577 | KCNH2 | n.1392G>A c.559G>A (p.Gly187Ser) c.235-24G>A (n.235-24G>A) n.782G>A c.259G>A (p.Gly87Ser) c.409G>A (p.Gly137Ser) c.382G>A (p.Gly128Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958417G>A | CA008570 | KCNH2 | n.1391C>T c.558C>T (p.Gly186=) c.235-25C>T (n.235-25C>T) n.781C>T c.258C>T (p.Gly86=) c.408C>T (p.Gly136=) c.381C>T (p.Gly127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958417G>C | CA458646779 | KCNH2 | n.1391C>G c.558C>G (p.Gly186=) c.235-25C>G (n.235-25C>G) n.781C>G c.258C>G (p.Gly86=) c.408C>G (p.Gly136=) c.381C>G (p.Gly127=) | ClinVar |
| 7 | g.150958417G= | CA1752418663 | KCNH2 | n.1391C= c.558C= (p.Gly186=) c.235-25C= (n.235-25C=) n.781C= c.258C= (p.Gly86=) c.408C= (p.Gly136=) c.381C= (p.Gly127=) | |
| 7 | g.150958417G>T | CA458646777 | KCNH2 | n.1391C>A c.558C>A (p.Gly186=) c.235-25C>A (n.235-25C>A) n.781C>A c.258C>A (p.Gly86=) c.408C>A (p.Gly136=) c.381C>A (p.Gly127=) | gnomAD v4 |
| 7 | g.150958420_150958453del | CA2695208647 | KCNH2 | n.1358_1391del c.525_558del (p.Arg176AlafsTer14) c.235-58_235-25del (n.235-58_235-25del) n.748_781del c.225_258del (p.Arg76AlafsTer14) c.375_408del (p.Arg126AlafsTer14) c.348_381del (p.Arg117AlafsTer14) | |
| 7 | g.150958418C>A | CA369863316 | KCNH2 | n.1390G>T c.557G>T (p.Gly186Val) c.235-26G>T (n.235-26G>T) n.780G>T c.257G>T (p.Gly86Val) c.407G>T (p.Gly136Val) c.380G>T (p.Gly127Val) | gnomAD v4 |
| 7 | g.150958418C>G | CA369863318 | KCNH2 | n.1390G>C c.557G>C (p.Gly186Ala) c.235-26G>C (n.235-26G>C) n.780G>C c.257G>C (p.Gly86Ala) c.407G>C (p.Gly136Ala) c.380G>C (p.Gly127Ala) | |
| 7 | g.150958418C>T | CA369863319 | KCNH2 | n.1390G>A c.557G>A (p.Gly186Asp) c.235-26G>A (n.235-26G>A) n.780G>A c.257G>A (p.Gly86Asp) c.407G>A (p.Gly136Asp) c.380G>A (p.Gly127Asp) | gnomAD v4 |
| 7 | g.150958420dup | CA2580077704 | KCNH2 | n.1390dup c.557dup (p.Gly187ArgfsTer?) c.235-26dup (n.235-26dup) n.780dup c.257dup (p.Gly87ArgfsTer?) c.407dup (p.Gly137ArgfsTer?) c.380dup (p.Gly128ArgfsTer?) | ClinVar |
| 7 | g.150958419C>A | CA369863320 | KCNH2 | n.1389G>T c.556G>T (p.Gly186Cys) c.235-27G>T (n.235-27G>T) n.779G>T c.256G>T (p.Gly86Cys) c.406G>T (p.Gly136Cys) c.379G>T (p.Gly127Cys) | |
| 7 | g.150958419C>G | CA369863322 | KCNH2 | n.1389G>C c.556G>C (p.Gly186Arg) c.235-27G>C (n.235-27G>C) n.779G>C c.256G>C (p.Gly86Arg) c.406G>C (p.Gly136Arg) c.379G>C (p.Gly127Arg) | |
| 7 | g.150958419C>T | CA369863324 | KCNH2 | n.1389G>A c.556G>A (p.Gly186Ser) c.235-27G>A (n.235-27G>A) n.779G>A c.256G>A (p.Gly86Ser) c.406G>A (p.Gly136Ser) c.379G>A (p.Gly127Ser) | gnomAD v4 |
| 7 | g.150958421_150958428del | CA2695208648 | KCNH2 | n.1382_1389del c.549_556del (p.Gly184ArgfsTer?) c.235-34_235-27del (n.235-34_235-27del) n.772_779del c.249_256del (p.Gly84ArgfsTer?) c.399_406del (p.Gly134ArgfsTer?) c.372_379del (p.Gly125ArgfsTer?) | |
| 7 | g.150958423_150958435del | CA2499218814 | KCNH2 | n.1377_1389del c.544_556del (p.Ser182AlafsTer15) c.235-39_235-27del (n.235-39_235-27del) n.767_779del c.244_256del (p.Ser82AlafsTer15) c.394_406del (p.Ser132AlafsTer15) c.367_379del (p.Ser123AlafsTer15) | ClinVar dbSNP |
| 7 | g.150958420C>A | CA458646786 | KCNH2 | n.1388G>T c.555G>T (p.Ala185=) c.235-28G>T (n.235-28G>T) n.778G>T c.255G>T (p.Ala85=) c.405G>T (p.Ala135=) c.378G>T (p.Ala126=) | ClinVar gnomAD v4 |
| 7 | g.150958420C= | CA1752418668 | KCNH2 | n.1388G= c.555G= (p.Ala185=) c.235-28G= (n.235-28G=) n.778G= c.255G= (p.Ala85=) c.405G= (p.Ala135=) c.378G= (p.Ala126=) | |
| 7 | g.150958420C>G | CA458646789 | KCNH2 | n.1388G>C c.555G>C (p.Ala185=) c.235-28G>C (n.235-28G>C) n.778G>C c.255G>C (p.Ala85=) c.405G>C (p.Ala135=) c.378G>C (p.Ala126=) | |
| 7 | g.150958420C>T | CA169081470 | KCNH2 | n.1388G>A c.555G>A (p.Ala185=) c.235-28G>A (n.235-28G>A) n.778G>A c.255G>A (p.Ala85=) c.405G>A (p.Ala135=) c.378G>A (p.Ala126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958421del | CA2685608934 | KCNH2 | n.1387del c.554del (p.Ala185GlyfsTer16) c.235-29del (n.235-29del) n.777del c.254del (p.Ala85GlyfsTer16) c.404del (p.Ala135GlyfsTer16) c.377del (p.Ala126GlyfsTer16) | gnomAD v4 |
| 7 | g.150958421G>A | CA369863326 | KCNH2 | n.1387C>T c.554C>T (p.Ala185Val) c.235-29C>T (n.235-29C>T) n.777C>T c.254C>T (p.Ala85Val) c.404C>T (p.Ala135Val) c.377C>T (p.Ala126Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958421G>C | CA369863328 | KCNH2 | n.1387C>G c.554C>G (p.Ala185Gly) c.235-29C>G (n.235-29C>G) n.777C>G c.254C>G (p.Ala85Gly) c.404C>G (p.Ala135Gly) c.377C>G (p.Ala126Gly) | gnomAD v4 |
| 7 | g.150958421G= | CA1752418671 | KCNH2 | n.1387C= c.554C= (p.Ala185=) c.235-29C= (n.235-29C=) n.777C= c.254C= (p.Ala85=) c.404C= (p.Ala135=) c.377C= (p.Ala126=) | |
| 7 | g.150958421G>T | CA369863330 | KCNH2 | n.1387C>A c.554C>A (p.Ala185Glu) c.235-29C>A (n.235-29C>A) n.777C>A c.254C>A (p.Ala85Glu) c.404C>A (p.Ala135Glu) c.377C>A (p.Ala126Glu) | gnomAD v4 |
| 7 | g.150958422C>A | CA369863332 | KCNH2 | n.1386G>T c.553G>T (p.Ala185Ser) c.235-30G>T (n.235-30G>T) n.776G>T c.253G>T (p.Ala85Ser) c.403G>T (p.Ala135Ser) c.376G>T (p.Ala126Ser) | gnomAD v4 |
| 7 | g.150958422C>G | CA369863333 | KCNH2 | n.1386G>C c.553G>C (p.Ala185Pro) c.235-30G>C (n.235-30G>C) n.776G>C c.253G>C (p.Ala85Pro) c.403G>C (p.Ala135Pro) c.376G>C (p.Ala126Pro) | |
| 7 | g.150958422C>T | CA369863335 | KCNH2 | n.1386G>A c.553G>A (p.Ala185Thr) c.235-30G>A (n.235-30G>A) n.776G>A c.253G>A (p.Ala85Thr) c.403G>A (p.Ala135Thr) c.376G>A (p.Ala126Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958423G>A | CA458646795 | KCNH2 | n.1385C>T c.552C>T (p.Gly184=) c.235-31C>T (n.235-31C>T) n.775C>T c.252C>T (p.Gly84=) c.402C>T (p.Gly134=) c.375C>T (p.Gly125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958423G>C | CA458646797 | KCNH2 | n.1385C>G c.552C>G (p.Gly184=) c.235-31C>G (n.235-31C>G) n.775C>G c.252C>G (p.Gly84=) c.402C>G (p.Gly134=) c.375C>G (p.Gly125=) | gnomAD v4 |
| 7 | g.150958423G= | CA1752418673 | KCNH2 | n.1385C= c.552C= (p.Gly184=) c.235-31C= (n.235-31C=) n.775C= c.252C= (p.Gly84=) c.402C= (p.Gly134=) c.375C= (p.Gly125=) | |
| 7 | g.150958423G>T | CA458646798 | KCNH2 | n.1385C>A c.552C>A (p.Gly184=) c.235-31C>A (n.235-31C>A) n.775C>A c.252C>A (p.Gly84=) c.402C>A (p.Gly134=) c.375C>A (p.Gly125=) | gnomAD v4 |
| 7 | g.150958424C>A | CA369863337 | KCNH2 | n.1384G>T c.551G>T (p.Gly184Val) c.235-32G>T (n.235-32G>T) n.774G>T c.251G>T (p.Gly84Val) c.401G>T (p.Gly134Val) c.374G>T (p.Gly125Val) | gnomAD v4 |
| 7 | g.150958424C>G | CA369863340 | KCNH2 | n.1384G>C c.551G>C (p.Gly184Ala) c.235-32G>C (n.235-32G>C) n.774G>C c.251G>C (p.Gly84Ala) c.401G>C (p.Gly134Ala) c.374G>C (p.Gly125Ala) | |
| 7 | g.150958424C>T | CA369863339 | KCNH2 | n.1384G>A c.551G>A (p.Gly184Asp) c.235-32G>A (n.235-32G>A) n.774G>A c.251G>A (p.Gly84Asp) c.401G>A (p.Gly134Asp) c.374G>A (p.Gly125Asp) | gnomAD v4 |
| 7 | g.150958428_150958435dup | CA658797049 | KCNH2 | n.1377_1384dup c.544_551dup (p.Ala185ArgfsTer19) c.235-39_235-32dup (n.235-39_235-32dup) n.767_774dup c.244_251dup (p.Ala85ArgfsTer19) c.394_401dup (p.Ala135ArgfsTer19) c.367_374dup (p.Ala126ArgfsTer19) | ClinVar dbSNP |
| 7 | g.150958425C>A | CA369863342 | KCNH2 | n.1383G>T c.550G>T (p.Gly184Cys) c.235-33G>T (n.235-33G>T) n.773G>T c.250G>T (p.Gly84Cys) c.400G>T (p.Gly134Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
| 7 | g.150958425C= | CA1752418680 | KCNH2 | n.1383G= c.550G= (p.Gly184=) c.235-33G= (n.235-33G=) n.773G= c.250G= (p.Gly84=) c.400G= (p.Gly134=) c.373G= (p.Gly125=) | |
| 7 | g.150958425C>G | CA369863344 | KCNH2 | n.1383G>C c.550G>C (p.Gly184Arg) c.235-33G>C (n.235-33G>C) n.773G>C c.250G>C (p.Gly84Arg) c.400G>C (p.Gly134Arg) c.373G>C (p.Gly125Arg) | |
| 7 | g.150958425C>T | CA369863346 | KCNH2 | n.1383G>A c.550G>A (p.Gly184Ser) c.235-33G>A (n.235-33G>A) n.773G>A c.250G>A (p.Gly84Ser) c.400G>A (p.Gly134Ser) c.373G>A (p.Gly125Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150958426G>A | CA458646804 | KCNH2 | n.1382C>T c.549C>T (p.Gly183=) c.235-34C>T (n.235-34C>T) n.772C>T c.249C>T (p.Gly83=) c.399C>T (p.Gly133=) c.372C>T (p.Gly124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958426G>C | CA458646806 | KCNH2 | n.1382C>G c.549C>G (p.Gly183=) c.235-34C>G (n.235-34C>G) n.772C>G c.249C>G (p.Gly83=) c.399C>G (p.Gly133=) c.372C>G (p.Gly124=) | gnomAD v4 |
| 7 | g.150958426G= | CA1752418682 | KCNH2 | n.1382C= c.549C= (p.Gly183=) c.235-34C= (n.235-34C=) n.772C= c.249C= (p.Gly83=) c.399C= (p.Gly133=) c.372C= (p.Gly124=) | |
| 7 | g.150958426G>T | CA458646807 | KCNH2 | n.1382C>A c.549C>A (p.Gly183=) c.235-34C>A (n.235-34C>A) n.772C>A c.249C>A (p.Gly83=) c.399C>A (p.Gly133=) c.372C>A (p.Gly124=) | gnomAD v4 |
| 7 | g.150958427C>A | CA369863349 | KCNH2 | n.1381G>T c.548G>T (p.Gly183Val) c.235-35G>T (n.235-35G>T) n.771G>T c.248G>T (p.Gly83Val) c.398G>T (p.Gly133Val) c.371G>T (p.Gly124Val) | gnomAD v4 |
| 7 | g.150958427C>G | CA369863350 | KCNH2 | n.1381G>C c.548G>C (p.Gly183Ala) c.235-35G>C (n.235-35G>C) n.771G>C c.248G>C (p.Gly83Ala) c.398G>C (p.Gly133Ala) c.371G>C (p.Gly124Ala) | |
| 7 | g.150958427C>T | CA369863351 | KCNH2 | n.1381G>A c.548G>A (p.Gly183Asp) c.235-35G>A (n.235-35G>A) n.771G>A c.248G>A (p.Gly83Asp) c.398G>A (p.Gly133Asp) c.371G>A (p.Gly124Asp) | gnomAD v4 |
| 7 | g.150958429del | CA2685608949 | KCNH2 | n.1381del c.548del (p.Gly183AlafsTer18) c.235-35del (n.235-35del) n.771del c.248del (p.Gly83AlafsTer18) c.398del (p.Gly133AlafsTer18) c.371del (p.Gly124AlafsTer18) | gnomAD v4 |
| 7 | g.150958428C>A | CA369863354 | KCNH2 | n.1380G>T c.547G>T (p.Gly183Cys) c.235-36G>T (n.235-36G>T) n.770G>T c.247G>T (p.Gly83Cys) c.397G>T (p.Gly133Cys) c.370G>T (p.Gly124Cys) | gnomAD v4 |
| 7 | g.150958428C>G | CA369863355 | KCNH2 | n.1380G>C c.547G>C (p.Gly183Arg) c.235-36G>C (n.235-36G>C) n.770G>C c.247G>C (p.Gly83Arg) c.397G>C (p.Gly133Arg) c.370G>C (p.Gly124Arg) | |
| 7 | g.150958428C>T | CA369863357 | KCNH2 | n.1380G>A c.547G>A (p.Gly183Ser) c.235-36G>A (n.235-36G>A) n.770G>A c.247G>A (p.Gly83Ser) c.397G>A (p.Gly133Ser) c.370G>A (p.Gly124Ser) | gnomAD v4 |
| 7 | g.150958429C>A | CA458646811 | KCNH2 | n.1379G>T c.546G>T (p.Ser182=) c.235-37G>T (n.235-37G>T) n.769G>T c.246G>T (p.Ser82=) c.396G>T (p.Ser132=) c.369G>T (p.Ser123=) | ClinVar gnomAD v4 |
| 7 | g.150958429C= | CA1752418684 | KCNH2 | n.1379G= c.546G= (p.Ser182=) c.235-37G= (n.235-37G=) n.769G= c.246G= (p.Ser82=) c.396G= (p.Ser132=) c.369G= (p.Ser123=) | |
| 7 | g.150958429C>G | CA458646812 | KCNH2 | n.1379G>C c.546G>C (p.Ser182=) c.235-37G>C (n.235-37G>C) n.769G>C c.246G>C (p.Ser82=) c.396G>C (p.Ser132=) c.369G>C (p.Ser123=) | |
| 7 | g.150958429C>T | CA039963 | KCNH2 | n.1379G>A c.546G>A (p.Ser182=) c.235-37G>A (n.235-37G>A) n.769G>A c.246G>A (p.Ser82=) c.396G>A (p.Ser132=) c.369G>A (p.Ser123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958430G>A | CA369863361 | KCNH2 | n.1378C>T c.545C>T (p.Ser182Leu) c.235-38C>T (n.235-38C>T) n.768C>T c.245C>T (p.Ser82Leu) c.395C>T (p.Ser132Leu) c.368C>T (p.Ser123Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150958430G>C | CA16612317 | KCNH2 | n.1378C>G c.545C>G (p.Ser182Trp) c.235-38C>G (n.235-38C>G) n.768C>G c.245C>G (p.Ser82Trp) c.395C>G (p.Ser132Trp) c.368C>G (p.Ser123Trp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958430G= | CA1752418689 | KCNH2 | n.1378C= c.545C= (p.Ser182=) c.235-38C= (n.235-38C=) n.768C= c.245C= (p.Ser82=) c.395C= (p.Ser132=) c.368C= (p.Ser123=) | |
| 7 | g.150958430G>T | CA16042695 | KCNH2 | n.1378C>A c.545C>A (p.Ser182Ter) c.235-38C>A (n.235-38C>A) n.768C>A c.245C>A (p.Ser82Ter) c.395C>A (p.Ser132Ter) c.368C>A (p.Ser123Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958431A>C | CA369863368 | KCNH2 | n.1377T>G c.544T>G (p.Ser182Ala) c.235-39T>G (n.235-39T>G) n.767T>G c.244T>G (p.Ser82Ala) c.394T>G (p.Ser132Ala) c.367T>G (p.Ser123Ala) | |
| 7 | g.150958431A>G | CA369863364 | KCNH2 | n.1377T>C c.544T>C (p.Ser182Pro) c.235-39T>C (n.235-39T>C) n.767T>C c.244T>C (p.Ser82Pro) c.394T>C (p.Ser132Pro) c.367T>C (p.Ser123Pro) | |
| 7 | g.150958431A>T | CA369863365 | KCNH2 | n.1377T>A c.544T>A (p.Ser182Thr) c.235-39T>A (n.235-39T>A) n.767T>A c.244T>A (p.Ser82Thr) c.394T>A (p.Ser132Thr) c.367T>A (p.Ser123Thr) | |
| 7 | g.150958431_150958438dup | CA658797050 | KCNH2 | n.1370_1377dup c.537_544dup (p.Ser182TrpfsTer22) c.235-46_235-39dup (n.235-46_235-39dup) n.760_767dup c.237_244dup (p.Ser82TrpfsTer22) c.387_394dup (p.Ser132TrpfsTer22) c.360_367dup (p.Ser123TrpfsTer22) | ClinVar dbSNP |
| 7 | g.150958432C>A | CA458646813 | KCNH2 | n.1376G>T c.543G>T (p.Arg181=) c.235-40G>T (n.235-40G>T) n.766G>T c.243G>T (p.Arg81=) c.393G>T (p.Arg131=) c.366G>T (p.Arg122=) | gnomAD v4 |
| 7 | g.150958432C>G | CA458646814 | KCNH2 | n.1376G>C c.543G>C (p.Arg181=) c.235-40G>C (n.235-40G>C) n.766G>C c.243G>C (p.Arg81=) c.393G>C (p.Arg131=) c.366G>C (p.Arg122=) | |
| 7 | g.150958432C>T | CA458646815 | KCNH2 | n.1376G>A c.543G>A (p.Arg181=) c.235-40G>A (n.235-40G>A) n.766G>A c.243G>A (p.Arg81=) c.393G>A (p.Arg131=) c.366G>A (p.Arg122=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958433_150958434insCCC | CA1139770392 | KCNH2 | n.1376_1377insGGG c.543_544insGGG (p.Arg181_Ser182insGly) c.235-40_235-39insGGG (n.235-40_235-39insGGG) n.766_767insGGG c.243_244insGGG (p.Arg81_Ser82insGly) c.393_394insGGG (p.Arg131_Ser132insGly) c.366_367insGGG (p.Arg122_Ser123insGly) | |
| 7 | g.150958433C>A | CA369863370 | KCNH2 | n.1375G>T c.542G>T (p.Arg181Leu) c.235-41G>T (n.235-41G>T) n.765G>T c.242G>T (p.Arg81Leu) c.392G>T (p.Arg131Leu) c.365G>T (p.Arg122Leu) | gnomAD v4 |
| 7 | g.150958433C= | CA1752418697 | KCNH2 | n.1375G= c.542G= (p.Arg181=) c.235-41G= (n.235-41G=) n.765G= c.242G= (p.Arg81=) c.392G= (p.Arg131=) c.365G= (p.Arg122=) | |
| 7 | g.150958433C>G | CA369863372 | KCNH2 | n.1375G>C c.542G>C (p.Arg181Pro) c.235-41G>C (n.235-41G>C) n.765G>C c.242G>C (p.Arg81Pro) c.392G>C (p.Arg131Pro) c.365G>C (p.Arg122Pro) | ClinVar gnomAD v4 |
| 7 | g.150958433C>T | CA008563 | KCNH2 | n.1375G>A c.542G>A (p.Arg181Gln) c.235-41G>A (n.235-41G>A) n.765G>A c.242G>A (p.Arg81Gln) c.392G>A (p.Arg131Gln) c.365G>A (p.Arg122Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958434G>A | CA369863375 | KCNH2 | n.1374C>T c.541C>T (p.Arg181Trp) c.235-42C>T (n.235-42C>T) n.764C>T c.241C>T (p.Arg81Trp) c.391C>T (p.Arg131Trp) c.364C>T (p.Arg122Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958434G>C | CA369863376 | KCNH2 | n.1374C>G c.541C>G (p.Arg181Gly) c.235-42C>G (n.235-42C>G) n.764C>G c.241C>G (p.Arg81Gly) c.391C>G (p.Arg131Gly) c.364C>G (p.Arg122Gly) | gnomAD v4 |
| 7 | g.150958434G= | CA1752418700 | KCNH2 | n.1374C= c.541C= (p.Arg181=) c.235-42C= (n.235-42C=) n.764C= c.241C= (p.Arg81=) c.391C= (p.Arg131=) c.364C= (p.Arg122=) | |
| 7 | g.150958434G>T | CA458646816 | KCNH2 | n.1374C>A c.541C>A (p.Arg181=) c.235-42C>A (n.235-42C>A) n.764C>A c.241C>A (p.Arg81=) c.391C>A (p.Arg131=) c.364C>A (p.Arg122=) | gnomAD v4 |
| 7 | g.150958435C>A | CA458646817 | KCNH2 | n.1373G>T c.540G>T (p.Val180=) c.235-43G>T (n.235-43G>T) n.763G>T c.240G>T (p.Val80=) c.390G>T (p.Val130=) c.363G>T (p.Val121=) | gnomAD v4 |
| 7 | g.150958435C= | CA1752418702 | KCNH2 | n.1373G= c.540G= (p.Val180=) c.235-43G= (n.235-43G=) n.763G= c.240G= (p.Val80=) c.390G= (p.Val130=) c.363G= (p.Val121=) | |
| 7 | g.150958435C>G | CA458646819 | KCNH2 | n.1373G>C c.540G>C (p.Val180=) c.235-43G>C (n.235-43G>C) n.763G>C c.240G>C (p.Val80=) c.390G>C (p.Val130=) c.363G>C (p.Val121=) | |
| 7 | g.150958435C>T | CA458646818 | KCNH2 | n.1373G>A c.540G>A (p.Val180=) c.235-43G>A (n.235-43G>A) n.763G>A c.240G>A (p.Val80=) c.390G>A (p.Val130=) c.363G>A (p.Val121=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958436A>C | CA369863378 | KCNH2 | n.1372T>G c.539T>G (p.Val180Gly) c.235-44T>G (n.235-44T>G) n.762T>G c.239T>G (p.Val80Gly) c.389T>G (p.Val130Gly) c.362T>G (p.Val121Gly) | |
| 7 | g.150958436A>G | CA369863380 | KCNH2 | n.1372T>C c.539T>C (p.Val180Ala) c.235-44T>C (n.235-44T>C) n.762T>C c.239T>C (p.Val80Ala) c.389T>C (p.Val130Ala) c.362T>C (p.Val121Ala) | gnomAD v4 |
| 7 | g.150958436A>T | CA369863382 | KCNH2 | n.1372T>A c.539T>A (p.Val180Glu) c.235-44T>A (n.235-44T>A) n.762T>A c.239T>A (p.Val80Glu) c.389T>A (p.Val130Glu) c.362T>A (p.Val121Glu) | |
| 7 | g.150958437C>A | CA369863384 | KCNH2 | n.1371G>T c.538G>T (p.Val180Leu) c.235-45G>T (n.235-45G>T) n.761G>T c.238G>T (p.Val80Leu) c.388G>T (p.Val130Leu) c.361G>T (p.Val121Leu) | |
| 7 | g.150958437C>G | CA369863386 | KCNH2 | n.1371G>C c.538G>C (p.Val180Leu) c.235-45G>C (n.235-45G>C) n.761G>C c.238G>C (p.Val80Leu) c.388G>C (p.Val130Leu) c.361G>C (p.Val121Leu) | |
| 7 | g.150958437C>T | CA369863388 | KCNH2 | n.1371G>A c.538G>A (p.Val180Met) c.235-45G>A (n.235-45G>A) n.761G>A c.238G>A (p.Val80Met) c.388G>A (p.Val130Met) c.361G>A (p.Val121Met) | gnomAD v4 |
| 7 | g.150958438C>A | CA458646820 | KCNH2 | n.1370G>T c.537G>T (p.Ser179=) c.235-46G>T (n.235-46G>T) n.760G>T c.237G>T (p.Ser79=) c.387G>T (p.Ser129=) c.360G>T (p.Ser120=) | gnomAD v4 |
| 7 | g.150958438C>G | CA458646821 | KCNH2 | n.1370G>C c.537G>C (p.Ser179=) c.235-46G>C (n.235-46G>C) n.760G>C c.237G>C (p.Ser79=) c.387G>C (p.Ser129=) c.360G>C (p.Ser120=) | |
| 7 | g.150958438C>T | CA458646822 | KCNH2 | n.1370G>A c.537G>A (p.Ser179=) c.235-46G>A (n.235-46G>A) n.760G>A c.237G>A (p.Ser79=) c.387G>A (p.Ser129=) c.360G>A (p.Ser120=) | ClinVar gnomAD v4 |
| 7 | g.150958438_150958463delinsCGACGACTCCCGGGCCGTCAGCGCCA | CA1752418705 | KCNH2 | n.1345_1370delinsTGGCGCTGACGGCCCGGGAGTCGTCG c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu171=) c.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG (n.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG) n.735_760delinsTGGCGCTGACGGCCCGGGAGTCGTCG c.212_237delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu71=) c.362_387delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu121=) c.335_360delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu112=) | |
| 7 | g.150958439G>A | CA369863394 | KCNH2 | n.1369C>T c.536C>T (p.Ser179Leu) c.235-47C>T (n.235-47C>T) n.759C>T c.236C>T (p.Ser79Leu) c.386C>T (p.Ser129Leu) c.359C>T (p.Ser120Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958439G>C | CA369863390 | KCNH2 | n.1369C>G c.536C>G (p.Ser179Trp) c.235-47C>G (n.235-47C>G) n.759C>G c.236C>G (p.Ser79Trp) c.386C>G (p.Ser129Trp) c.359C>G (p.Ser120Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958439G= | CA1752418709 | KCNH2 | n.1369C= c.536C= (p.Ser179=) c.235-47C= (n.235-47C=) n.759C= c.236C= (p.Ser79=) c.386C= (p.Ser129=) c.359C= (p.Ser120=) | |
| 7 | g.150958439G>T | CA369863392 | KCNH2 | n.1369C>A c.536C>A (p.Ser179Ter) c.235-47C>A (n.235-47C>A) n.759C>A c.236C>A (p.Ser79Ter) c.386C>A (p.Ser129Ter) c.359C>A (p.Ser120Ter) | gnomAD v4 |
| 7 | g.150958440_150958464del | CA658797051 | KCNH2 | n.1345_1369del c.512_536del (p.Leu171ArgfsTer22) c.235-71_235-47del (n.235-71_235-47del) n.735_759del c.212_236del (p.Leu71ArgfsTer22) c.362_386del (p.Leu121ArgfsTer22) c.335_359del (p.Leu112ArgfsTer22) | ClinVar dbSNP |
| 7 | g.150958440A>C | CA369863396 | KCNH2 | n.1368T>G c.535T>G (p.Ser179Ala) c.235-48T>G (n.235-48T>G) n.758T>G c.235T>G (p.Ser79Ala) c.385T>G (p.Ser129Ala) c.358T>G (p.Ser120Ala) | ClinVar dbSNP |
| 7 | g.150958440A>G | CA369863398 | KCNH2 | n.1368T>C c.535T>C (p.Ser179Pro) c.235-48T>C (n.235-48T>C) n.758T>C c.235T>C (p.Ser79Pro) c.385T>C (p.Ser129Pro) c.358T>C (p.Ser120Pro) | gnomAD v4 |
| 7 | g.150958440A>T | CA369863400 | KCNH2 | n.1368T>A c.535T>A (p.Ser179Thr) c.235-48T>A (n.235-48T>A) n.758T>A c.235T>A (p.Ser79Thr) c.385T>A (p.Ser129Thr) c.358T>A (p.Ser120Thr) | |
| 7 | g.150958441C>A | CA458646823 | KCNH2 | n.1367G>T c.534G>T (p.Ser178=) c.235-49G>T (n.235-49G>T) n.757G>T c.234G>T (p.Ser78=) c.384G>T (p.Ser128=) c.357G>T (p.Ser119=) | ClinVar gnomAD v4 |
| 7 | g.150958441C= | CA1752418712 | KCNH2 | n.1367G= c.534G= (p.Ser178=) c.235-49G= (n.235-49G=) n.757G= c.234G= (p.Ser78=) c.384G= (p.Ser128=) c.357G= (p.Ser119=) | |
| 7 | g.150958441C>G | CA169081479 | KCNH2 | n.1367G>C c.534G>C (p.Ser178=) c.235-49G>C (n.235-49G>C) n.757G>C c.234G>C (p.Ser78=) c.384G>C (p.Ser128=) c.357G>C (p.Ser119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958441C>T | CA458646824 | KCNH2 | n.1367G>A c.534G>A (p.Ser178=) c.235-49G>A (n.235-49G>A) n.757G>A c.234G>A (p.Ser78=) c.384G>A (p.Ser128=) c.357G>A (p.Ser119=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958442G>A | CA369863402 | KCNH2 | n.1366C>T c.533C>T (p.Ser178Leu) c.235-50C>T (n.235-50C>T) n.756C>T c.233C>T (p.Ser78Leu) c.383C>T (p.Ser128Leu) c.356C>T (p.Ser119Leu) | gnomAD v4 |
| 7 | g.150958442G>C | CA369863403 | KCNH2 | n.1366C>G c.533C>G (p.Ser178Trp) c.235-50C>G (n.235-50C>G) n.756C>G c.233C>G (p.Ser78Trp) c.383C>G (p.Ser128Trp) c.356C>G (p.Ser119Trp) | |
| 7 | g.150958442G>T | CA369863405 | KCNH2 | n.1366C>A c.533C>A (p.Ser178Ter) c.235-50C>A (n.235-50C>A) n.756C>A c.233C>A (p.Ser78Ter) c.383C>A (p.Ser128Ter) c.356C>A (p.Ser119Ter) | gnomAD v4 |