UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50081632_50081641del | CA2695233654 | CLCN5 | c.727-9_727del c.517-9_517del c.1014-9_1014del c.577-9_577del c.739-9_739del | |
| X | g.50081641A= | CA2428767412 | CLCN5 | c.727A= (p.Ile243=) c.517A= (p.Ile173=) c.1014A= c.577A= (p.Ile193=) c.739A= (p.Ile247=) | |
| X | g.50081641A>C | CA413184000 | CLCN5 | c.727A>C (p.Ile243Leu) c.517A>C (p.Ile173Leu) c.1014A>C c.577A>C (p.Ile193Leu) c.739A>C (p.Ile247Leu) | |
| X | g.50081641A>G | CA413184001 | CLCN5 | c.727A>G (p.Ile243Val) c.517A>G (p.Ile173Val) c.1014A>G c.577A>G (p.Ile193Val) c.739A>G (p.Ile247Val) | |
| X | g.50081641A>T | CA413184002 | CLCN5 | c.727A>T (p.Ile243Leu) c.517A>T (p.Ile173Leu) c.1014A>T c.577A>T (p.Ile193Leu) c.739A>T (p.Ile247Leu) | gnomAD v3 gnomAD v4 |
| X | g.50081642del | CA2695233656 | CLCN5 | c.728del (p.Ile243LysfsTer5) c.518del (p.Ile173LysfsTer5) c.1015del c.578del (p.Ile193LysfsTer5) c.740del (p.Ile247LysfsTer5) | |
| X | g.50081642T>A | CA413184003 | CLCN5 | c.728T>A (p.Ile243Lys) c.518T>A (p.Ile173Lys) c.1015T>A c.578T>A (p.Ile193Lys) c.740T>A (p.Ile247Lys) | |
| X | g.50081642T>C | CA413184004 | CLCN5 | c.728T>C (p.Ile243Thr) c.518T>C (p.Ile173Thr) c.1015T>C c.578T>C (p.Ile193Thr) c.740T>C (p.Ile247Thr) | gnomAD v4 |
| X | g.50081642T>G | CA413184005 | CLCN5 | c.728T>G (p.Ile243Arg) c.518T>G (p.Ile173Arg) c.1015T>G c.578T>G (p.Ile193Arg) c.740T>G (p.Ile247Arg) | |
| X | g.50081642_50081659dup | CA916083955 | CLCN5 | c.728_745dup (p.Ser248_Gly249insValLysThrIleLeuSer) c.518_535dup (p.Ser178_Gly179insValLysThrIleLeuSer) c.1015_1032dup c.578_595dup (p.Ser198_Gly199insValLysThrIleLeuSer) c.740_757dup (p.Ser252_Gly253insValLysThrIleLeuSer) | ClinVar dbSNP |
| X | g.50081643A>C | CA516469917 | CLCN5 | c.729A>C (p.Ile243=) c.519A>C (p.Ile173=) c.1016A>C c.579A>C (p.Ile193=) c.741A>C (p.Ile247=) | |
| X | g.50081643A>G | CA413184006 | CLCN5 | c.729A>G (p.Ile243Met) c.519A>G (p.Ile173Met) c.1016A>G c.579A>G (p.Ile193Met) c.741A>G (p.Ile247Met) | |
| X | g.50081643A>T | CA516469916 | CLCN5 | c.729A>T (p.Ile243=) c.519A>T (p.Ile173=) c.1016A>T c.579A>T (p.Ile193=) c.741A>T (p.Ile247=) | |
| X | g.50081647dup | CA2695233657 | CLCN5 | c.733dup (p.Thr245AsnfsTer9) c.523dup (p.Thr175AsnfsTer9) c.1020dup c.583dup (p.Thr195AsnfsTer9) c.745dup (p.Thr249AsnfsTer9) | |
| X | g.50081647del | CA2579610677 | CLCN5 | c.733del (p.Thr245LeufsTer3) c.523del (p.Thr175LeufsTer3) c.1020del c.583del (p.Thr195LeufsTer3) c.745del (p.Thr249LeufsTer3) | |
| X | g.50081644A= | CA2428767413 | CLCN5 | c.730A= (p.Lys244=) c.520A= (p.Lys174=) c.1017A= c.580A= (p.Lys194=) c.742A= (p.Lys248=) | |
| X | g.50081644A>C | CA413184007 | CLCN5 | c.730A>C (p.Lys244Gln) c.520A>C (p.Lys174Gln) c.1017A>C c.580A>C (p.Lys194Gln) c.742A>C (p.Lys248Gln) | |
| X | g.50081644A>G | CA10413788 | CLCN5 | c.730A>G (p.Lys244Glu) c.520A>G (p.Lys174Glu) c.1017A>G c.580A>G (p.Lys194Glu) c.742A>G (p.Lys248Glu) | dbSNP ExAC |
| X | g.50081644A>T | CA413184008 | CLCN5 | c.730A>T (p.Lys244Ter) c.520A>T (p.Lys174Ter) c.1017A>T c.580A>T (p.Lys194Ter) c.742A>T (p.Lys248Ter) | |
| X | g.50081645A>C | CA413184009 | CLCN5 | c.731A>C (p.Lys244Thr) c.521A>C (p.Lys174Thr) c.1018A>C c.581A>C (p.Lys194Thr) c.743A>C (p.Lys248Thr) | |
| X | g.50081645A>G | CA413184010 | CLCN5 | c.731A>G (p.Lys244Arg) c.521A>G (p.Lys174Arg) c.1018A>G c.581A>G (p.Lys194Arg) c.743A>G (p.Lys248Arg) | |
| X | g.50081645A>T | CA413184011 | CLCN5 | c.731A>T (p.Lys244Ile) c.521A>T (p.Lys174Ile) c.1018A>T c.581A>T (p.Lys194Ile) c.743A>T (p.Lys248Ile) | |
| X | g.50081646A>C | CA413184012 | CLCN5 | c.732A>C (p.Lys244Asn) c.522A>C (p.Lys174Asn) c.1019A>C c.582A>C (p.Lys194Asn) c.744A>C (p.Lys248Asn) | |
| X | g.50081646A>G | CA516469922 | CLCN5 | c.732A>G (p.Lys244=) c.522A>G (p.Lys174=) c.1019A>G c.582A>G (p.Lys194=) c.744A>G (p.Lys248=) | |
| X | g.50081646A>T | CA413184013 | CLCN5 | c.732A>T (p.Lys244Asn) c.522A>T (p.Lys174Asn) c.1019A>T c.582A>T (p.Lys194Asn) c.744A>T (p.Lys248Asn) | |
| X | g.50081647A>C | CA413184014 | CLCN5 | c.733A>C (p.Thr245Pro) c.523A>C (p.Thr175Pro) c.1020A>C c.583A>C (p.Thr195Pro) c.745A>C (p.Thr249Pro) | |
| X | g.50081647A>G | CA413184015 | CLCN5 | c.733A>G (p.Thr245Ala) c.523A>G (p.Thr175Ala) c.1020A>G c.583A>G (p.Thr195Ala) c.745A>G (p.Thr249Ala) | |
| X | g.50081647A>T | CA413184016 | CLCN5 | c.733A>T (p.Thr245Ser) c.523A>T (p.Thr175Ser) c.1020A>T c.583A>T (p.Thr195Ser) c.745A>T (p.Thr249Ser) | |
| X | g.50081648C>A | CA413184018 | CLCN5 | c.734C>A (p.Thr245Asn) c.524C>A (p.Thr175Asn) c.1021C>A c.584C>A (p.Thr195Asn) c.746C>A (p.Thr249Asn) | |
| X | g.50081648C>G | CA413184019 | CLCN5 | c.734C>G (p.Thr245Ser) c.524C>G (p.Thr175Ser) c.1021C>G c.584C>G (p.Thr195Ser) c.746C>G (p.Thr249Ser) | |
| X | g.50081648C>T | CA413184017 | CLCN5 | c.734C>T (p.Thr245Ile) c.524C>T (p.Thr175Ile) c.1021C>T c.584C>T (p.Thr195Ile) c.746C>T (p.Thr249Ile) | |
| X | g.50081649T>A | CA516469923 | CLCN5 | c.735T>A (p.Thr245=) c.525T>A (p.Thr175=) c.1022T>A c.585T>A (p.Thr195=) c.747T>A (p.Thr249=) | |
| X | g.50081649T>C | CA516469925 | CLCN5 | c.735T>C (p.Thr245=) c.525T>C (p.Thr175=) c.1022T>C c.585T>C (p.Thr195=) c.747T>C (p.Thr249=) | |
| X | g.50081649T>G | CA516469926 | CLCN5 | c.735T>G (p.Thr245=) c.525T>G (p.Thr175=) c.1022T>G c.585T>G (p.Thr195=) c.747T>G (p.Thr249=) | |
| X | g.50081650A= | CA2428767414 | CLCN5 | c.736A= (p.Ile246=) c.526A= (p.Ile176=) c.1023A= c.586A= (p.Ile196=) c.748A= (p.Ile250=) | |
| X | g.50081650A>C | CA413184020 | CLCN5 | c.736A>C (p.Ile246Leu) c.526A>C (p.Ile176Leu) c.1023A>C c.586A>C (p.Ile196Leu) c.748A>C (p.Ile250Leu) | |
| X | g.50081650A>G | CA413184021 | CLCN5 | c.736A>G (p.Ile246Val) c.526A>G (p.Ile176Val) c.1023A>G c.586A>G (p.Ile196Val) c.748A>G (p.Ile250Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081650A>T | CA413184022 | CLCN5 | c.736A>T (p.Ile246Phe) c.526A>T (p.Ile176Phe) c.1023A>T c.586A>T (p.Ile196Phe) c.748A>T (p.Ile250Phe) | |
| X | g.50081651T>A | CA413184023 | CLCN5 | c.737T>A (p.Ile246Asn) c.527T>A (p.Ile176Asn) c.1024T>A c.587T>A (p.Ile196Asn) c.749T>A (p.Ile250Asn) | |
| X | g.50081651T>C | CA413184024 | CLCN5 | c.737T>C (p.Ile246Thr) c.527T>C (p.Ile176Thr) c.1024T>C c.587T>C (p.Ile196Thr) c.749T>C (p.Ile250Thr) | |
| X | g.50081651T>G | CA413184025 | CLCN5 | c.737T>G (p.Ile246Ser) c.527T>G (p.Ile176Ser) c.1024T>G c.587T>G (p.Ile196Ser) c.749T>G (p.Ile250Ser) | |
| X | g.50081652C>A | CA516469927 | CLCN5 | c.738C>A (p.Ile246=) c.528C>A (p.Ile176=) c.1025C>A c.588C>A (p.Ile196=) c.750C>A (p.Ile250=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081652C= | CA2428767415 | CLCN5 | c.738C= (p.Ile246=) c.528C= (p.Ile176=) c.1025C= c.588C= (p.Ile196=) c.750C= (p.Ile250=) | |
| X | g.50081652C>G | CA413184026 | CLCN5 | c.738C>G (p.Ile246Met) c.528C>G (p.Ile176Met) c.1025C>G c.588C>G (p.Ile196Met) c.750C>G (p.Ile250Met) | |
| X | g.50081652C>T | CA516469928 | CLCN5 | c.738C>T (p.Ile246=) c.528C>T (p.Ile176=) c.1025C>T c.588C>T (p.Ile196=) c.750C>T (p.Ile250=) | |
| X | g.50081653T>A | CA413184027 | CLCN5 | c.739T>A (p.Leu247Met) c.529T>A (p.Leu177Met) c.1026T>A c.589T>A (p.Leu197Met) c.751T>A (p.Leu251Met) | |
| X | g.50081653T>C | CA516469929 | CLCN5 | c.739T>C (p.Leu247=) c.529T>C (p.Leu177=) c.1026T>C c.589T>C (p.Leu197=) c.751T>C (p.Leu251=) | gnomAD v4 |
| X | g.50081653T>G | CA413184028 | CLCN5 | c.739T>G (p.Leu247Val) c.529T>G (p.Leu177Val) c.1026T>G c.589T>G (p.Leu197Val) c.751T>G (p.Leu251Val) | |
| X | g.50081653_50081654del | CA2695233658 | CLCN5 | c.739_740del (p.Leu247GlufsTer6) c.529_530del (p.Leu177GlufsTer6) c.1026_1027del c.589_590del (p.Leu197GlufsTer6) c.751_752del (p.Leu251GlufsTer6) | |
| X | g.50081654T>A | CA413184029 | CLCN5 | c.740T>A (p.Leu247Ter) c.530T>A (p.Leu177Ter) c.1027T>A c.590T>A (p.Leu197Ter) c.752T>A (p.Leu251Ter) | |
| X | g.50081654T>C | CA413184030 | CLCN5 | c.740T>C (p.Leu247Ser) c.530T>C (p.Leu177Ser) c.1027T>C c.590T>C (p.Leu197Ser) c.752T>C (p.Leu251Ser) | |
| X | g.50081654T>G | CA413184031 | CLCN5 | c.740T>G (p.Leu247Trp) c.530T>G (p.Leu177Trp) c.1027T>G c.590T>G (p.Leu197Trp) c.752T>G (p.Leu251Trp) | |
| X | g.50081655del | CA2579610678 | CLCN5 | c.741del (p.Ser248ValfsTer29) c.531del (p.Ser178ValfsTer29) c.1028del c.591del (p.Ser198ValfsTer29) c.753del (p.Ser252ValfsTer29) | |
| X | g.50081655G>A | CA516469930 | CLCN5 | c.741G>A (p.Leu247=) c.531G>A (p.Leu177=) c.1028G>A c.591G>A (p.Leu197=) c.753G>A (p.Leu251=) | |
| X | g.50081655G>C | CA413184033 | CLCN5 | c.741G>C (p.Leu247Phe) c.531G>C (p.Leu177Phe) c.1028G>C c.591G>C (p.Leu197Phe) c.753G>C (p.Leu251Phe) | |
| X | g.50081655G>T | CA413184032 | CLCN5 | c.741G>T (p.Leu247Phe) c.531G>T (p.Leu177Phe) c.1028G>T c.591G>T (p.Leu197Phe) c.753G>T (p.Leu251Phe) | |
| X | g.50081656A>C | CA413184034 | CLCN5 | c.742A>C (p.Ser248Arg) c.532A>C (p.Ser178Arg) c.1029A>C c.592A>C (p.Ser198Arg) c.754A>C (p.Ser252Arg) | |
| X | g.50081656A>G | CA413184035 | CLCN5 | c.742A>G (p.Ser248Gly) c.532A>G (p.Ser178Gly) c.1029A>G c.592A>G (p.Ser198Gly) c.754A>G (p.Ser252Gly) | |
| X | g.50081656A>T | CA413184036 | CLCN5 | c.742A>T (p.Ser248Cys) c.532A>T (p.Ser178Cys) c.1029A>T c.592A>T (p.Ser198Cys) c.754A>T (p.Ser252Cys) | |
| X | g.50081658_50081672del | CA2820859495 | CLCN5 | c.744_758del (p.Ser248_Ile252del) c.534_548del (p.Ser178_Ile182del) c.1031_1045del c.594_608del (p.Ser198_Ile202del) c.756_770del (p.Ser252_Ile256del) | |
| X | g.50081657G>A | CA413184037 | CLCN5 | c.743G>A (p.Ser248Asn) c.533G>A (p.Ser178Asn) c.1030G>A c.593G>A (p.Ser198Asn) c.755G>A (p.Ser252Asn) | ClinVar |
| X | g.50081657G>C | CA413184038 | CLCN5 | c.743G>C (p.Ser248Thr) c.533G>C (p.Ser178Thr) c.1030G>C c.593G>C (p.Ser198Thr) c.755G>C (p.Ser252Thr) | |
| X | g.50081657G>T | CA413184039 | CLCN5 | c.743G>T (p.Ser248Ile) c.533G>T (p.Ser178Ile) c.1030G>T c.593G>T (p.Ser198Ile) c.755G>T (p.Ser252Ile) | |
| X | g.50081658T>A | CA413184040 | CLCN5 | c.744T>A (p.Ser248Arg) c.534T>A (p.Ser178Arg) c.1031T>A c.594T>A (p.Ser198Arg) c.756T>A (p.Ser252Arg) | |
| X | g.50081658T>C | CA516469932 | CLCN5 | c.744T>C (p.Ser248=) c.534T>C (p.Ser178=) c.1031T>C c.594T>C (p.Ser198=) c.756T>C (p.Ser252=) | |
| X | g.50081658T>G | CA413184041 | CLCN5 | c.744T>G (p.Ser248Arg) c.534T>G (p.Ser178Arg) c.1031T>G c.594T>G (p.Ser198Arg) c.756T>G (p.Ser252Arg) | |
| X | g.50081659G>A | CA413184042 | CLCN5 | c.745G>A (p.Gly249Ser) c.535G>A (p.Gly179Ser) c.1032G>A c.595G>A (p.Gly199Ser) c.757G>A (p.Gly253Ser) | gnomAD v4 |
| X | g.50081659G>C | CA413184043 | CLCN5 | c.745G>C (p.Gly249Arg) c.535G>C (p.Gly179Arg) c.1032G>C c.595G>C (p.Gly199Arg) c.757G>C (p.Gly253Arg) | |
| X | g.50081659G>T | CA413184044 | CLCN5 | c.745G>T (p.Gly249Cys) c.535G>T (p.Gly179Cys) c.1032G>T c.595G>T (p.Gly199Cys) c.757G>T (p.Gly253Cys) | |
| X | g.50081660G>A | CA413184045 | CLCN5 | c.746G>A (p.Gly249Asp) c.536G>A (p.Gly179Asp) c.1033G>A c.596G>A (p.Gly199Asp) c.758G>A (p.Gly253Asp) | |
| X | g.50081660G>C | CA413184046 | CLCN5 | c.746G>C (p.Gly249Ala) c.536G>C (p.Gly179Ala) c.1033G>C c.596G>C (p.Gly199Ala) c.758G>C (p.Gly253Ala) | |
| X | g.50081660G>T | CA413184047 | CLCN5 | c.746G>T (p.Gly249Val) c.536G>T (p.Gly179Val) c.1033G>T c.596G>T (p.Gly199Val) c.758G>T (p.Gly253Val) | ClinVar |
| X | g.50081661T>A | CA516469934 | CLCN5 | c.747T>A (p.Gly249=) c.537T>A (p.Gly179=) c.1034T>A c.597T>A (p.Gly199=) c.759T>A (p.Gly253=) | |
| X | g.50081661T>C | CA516469935 | CLCN5 | c.747T>C (p.Gly249=) c.537T>C (p.Gly179=) c.1034T>C c.597T>C (p.Gly199=) c.759T>C (p.Gly253=) | |
| X | g.50081661T>G | CA516469936 | CLCN5 | c.747T>G (p.Gly249=) c.537T>G (p.Gly179=) c.1034T>G c.597T>G (p.Gly199=) c.759T>G (p.Gly253=) | |
| X | g.50081662T>A | CA413184049 | CLCN5 | c.748T>A (p.Phe250Ile) c.538T>A (p.Phe180Ile) c.1035T>A c.598T>A (p.Phe200Ile) c.760T>A (p.Phe254Ile) | |
| X | g.50081662T>C | CA413184050 | CLCN5 | c.748T>C (p.Phe250Leu) c.538T>C (p.Phe180Leu) c.1035T>C c.598T>C (p.Phe200Leu) c.760T>C (p.Phe254Leu) | |
| X | g.50081662T>G | CA413184048 | CLCN5 | c.748T>G (p.Phe250Val) c.538T>G (p.Phe180Val) c.1035T>G c.598T>G (p.Phe200Val) c.760T>G (p.Phe254Val) | |
| X | g.50081663T>A | CA413184051 | CLCN5 | c.749T>A (p.Phe250Tyr) c.539T>A (p.Phe180Tyr) c.1036T>A c.599T>A (p.Phe200Tyr) c.761T>A (p.Phe254Tyr) | |
| X | g.50081663T>C | CA413184052 | CLCN5 | c.749T>C (p.Phe250Ser) c.539T>C (p.Phe180Ser) c.1036T>C c.599T>C (p.Phe200Ser) c.761T>C (p.Phe254Ser) | |
| X | g.50081663T>G | CA413184053 | CLCN5 | c.749T>G (p.Phe250Cys) c.539T>G (p.Phe180Cys) c.1036T>G c.599T>G (p.Phe200Cys) c.761T>G (p.Phe254Cys) | |
| X | g.50081664C>A | CA413184054 | CLCN5 | c.750C>A (p.Phe250Leu) c.540C>A (p.Phe180Leu) c.1037C>A c.600C>A (p.Phe200Leu) c.762C>A (p.Phe254Leu) | |
| X | g.50081664C>G | CA413184055 | CLCN5 | c.750C>G (p.Phe250Leu) c.540C>G (p.Phe180Leu) c.1037C>G c.600C>G (p.Phe200Leu) c.762C>G (p.Phe254Leu) | |
| X | g.50081664C>T | CA516469938 | CLCN5 | c.750C>T (p.Phe250=) c.540C>T (p.Phe180=) c.1037C>T c.600C>T (p.Phe200=) c.762C>T (p.Phe254=) | |
| X | g.50081665A>C | CA413184056 | CLCN5 | c.751A>C (p.Ile251Leu) c.1A>C (p.Ile1Leu) c.541A>C (p.Ile181Leu) c.1038A>C c.601A>C (p.Ile201Leu) c.763A>C (p.Ile255Leu) | |
| X | g.50081665A>G | CA413184057 | CLCN5 | c.751A>G (p.Ile251Val) c.1A>G (p.Ile1Val) c.541A>G (p.Ile181Val) c.1038A>G c.601A>G (p.Ile201Val) c.763A>G (p.Ile255Val) | gnomAD v4 |
| X | g.50081665A>T | CA413184058 | CLCN5 | c.751A>T (p.Ile251Phe) c.1A>T (p.Ile1Phe) c.541A>T (p.Ile181Phe) c.1038A>T c.601A>T (p.Ile201Phe) c.763A>T (p.Ile255Phe) | |
| X | g.50081666T>A | CA413184059 | CLCN5 | c.752T>A (p.Ile251Asn) c.2T>A (p.Ile1Asn) c.542T>A (p.Ile181Asn) c.1039T>A c.602T>A (p.Ile201Asn) c.764T>A (p.Ile255Asn) | |
| X | g.50081666T>C | CA413184060 | CLCN5 | c.752T>C (p.Ile251Thr) c.2T>C (p.Ile1Thr) c.542T>C (p.Ile181Thr) c.1039T>C c.602T>C (p.Ile201Thr) c.764T>C (p.Ile255Thr) | |
| X | g.50081666T>G | CA413184061 | CLCN5 | c.752T>G (p.Ile251Ser) c.2T>G (p.Ile1Ser) c.542T>G (p.Ile181Ser) c.1039T>G c.602T>G (p.Ile201Ser) c.764T>G (p.Ile255Ser) | |
| X | g.50081667T>A | CA516469939 | CLCN5 | c.753T>A (p.Ile251=) c.3T>A (p.Ile1=) c.543T>A (p.Ile181=) c.1040T>A c.603T>A (p.Ile201=) c.765T>A (p.Ile255=) | |
| X | g.50081667T>C | CA516469940 | CLCN5 | c.753T>C (p.Ile251=) c.3T>C (p.Ile1=) c.543T>C (p.Ile181=) c.1040T>C c.603T>C (p.Ile201=) c.765T>C (p.Ile255=) | |
| X | g.50081667T>G | CA413184062 | CLCN5 | c.753T>G (p.Ile251Met) c.3T>G (p.Ile1Met) c.543T>G (p.Ile181Met) c.1040T>G c.603T>G (p.Ile201Met) c.765T>G (p.Ile255Met) | |
| X | g.50081668A>C | CA413184065 | CLCN5 | c.754A>C (p.Ile252Leu) c.4A>C (p.Ile2Leu) c.544A>C (p.Ile182Leu) c.1041A>C c.604A>C (p.Ile202Leu) c.766A>C (p.Ile256Leu) | |
| X | g.50081668A>G | CA413184064 | CLCN5 | c.754A>G (p.Ile252Val) c.4A>G (p.Ile2Val) c.544A>G (p.Ile182Val) c.1041A>G c.604A>G (p.Ile202Val) c.766A>G (p.Ile256Val) | |
| X | g.50081668A>T | CA413184063 | CLCN5 | c.754A>T (p.Ile252Phe) c.4A>T (p.Ile2Phe) c.544A>T (p.Ile182Phe) c.1041A>T c.604A>T (p.Ile202Phe) c.766A>T (p.Ile256Phe) | |
| X | g.50081669T>A | CA413184066 | CLCN5 | c.755T>A (p.Ile252Asn) c.5T>A (p.Ile2Asn) c.545T>A (p.Ile182Asn) c.1042T>A c.605T>A (p.Ile202Asn) c.767T>A (p.Ile256Asn) | |
| X | g.50081669T>C | CA413184067 | CLCN5 | c.755T>C (p.Ile252Thr) c.5T>C (p.Ile2Thr) c.545T>C (p.Ile182Thr) c.1042T>C c.605T>C (p.Ile202Thr) c.767T>C (p.Ile256Thr) | |
| X | g.50081669T>G | CA413184068 | CLCN5 | c.755T>G (p.Ile252Ser) c.5T>G (p.Ile2Ser) c.545T>G (p.Ile182Ser) c.1042T>G c.605T>G (p.Ile202Ser) c.767T>G (p.Ile256Ser) | |
| X | g.50081670T>A | CA516469941 | CLCN5 | c.756T>A (p.Ile252=) c.6T>A (p.Ile2=) c.546T>A (p.Ile182=) c.1043T>A c.606T>A (p.Ile202=) c.768T>A (p.Ile256=) | |
| X | g.50081670T>C | CA516469942 | CLCN5 | c.756T>C (p.Ile252=) c.6T>C (p.Ile2=) c.546T>C (p.Ile182=) c.1043T>C c.606T>C (p.Ile202=) c.768T>C (p.Ile256=) | gnomAD v4 |
| X | g.50081670T>G | CA413184069 | CLCN5 | c.756T>G (p.Ile252Met) c.6T>G (p.Ile2Met) c.546T>G (p.Ile182Met) c.1043T>G c.606T>G (p.Ile202Met) c.768T>G (p.Ile256Met) | |
| X | g.50081671A>C | CA516469943 | CLCN5 | c.757A>C (p.Arg253=) c.7A>C (p.Arg3=) c.547A>C (p.Arg183=) c.1044A>C c.607A>C (p.Arg203=) c.769A>C (p.Arg257=) | |
| X | g.50081671A>G | CA413184070 | CLCN5 | c.757A>G (p.Arg253Gly) c.7A>G (p.Arg3Gly) c.547A>G (p.Arg183Gly) c.1044A>G c.607A>G (p.Arg203Gly) c.769A>G (p.Arg257Gly) | |
| X | g.50081671A>T | CA413184071 | CLCN5 | c.757A>T (p.Arg253Trp) c.7A>T (p.Arg3Trp) c.547A>T (p.Arg183Trp) c.1044A>T c.607A>T (p.Arg203Trp) c.769A>T (p.Arg257Trp) | |
| X | g.50081672G>A | CA413184072 | CLCN5 | c.758G>A (p.Arg253Lys) c.8G>A (p.Arg3Lys) c.548G>A (p.Arg183Lys) c.1045G>A c.608G>A (p.Arg203Lys) c.770G>A (p.Arg257Lys) | |
| X | g.50081672G>C | CA413184073 | CLCN5 | c.758G>C (p.Arg253Thr) c.8G>C (p.Arg3Thr) c.548G>C (p.Arg183Thr) c.1045G>C c.608G>C (p.Arg203Thr) c.770G>C (p.Arg257Thr) | |
| X | g.50081672G>T | CA413184074 | CLCN5 | c.758G>T (p.Arg253Met) c.8G>T (p.Arg3Met) c.548G>T (p.Arg183Met) c.1045G>T c.608G>T (p.Arg203Met) c.770G>T (p.Arg257Met) | |
| X | g.50081673G>A | CA516469944 | CLCN5 | c.759G>A (p.Arg253=) c.9G>A (p.Arg3=) c.549G>A (p.Arg183=) c.1046G>A c.609G>A (p.Arg203=) c.771G>A (p.Arg257=) | |
| X | g.50081673G>C | CA413184075 | CLCN5 | c.759G>C (p.Arg253Ser) c.9G>C (p.Arg3Ser) c.549G>C (p.Arg183Ser) c.1046G>C c.609G>C (p.Arg203Ser) c.771G>C (p.Arg257Ser) | |
| X | g.50081673G>T | CA413184076 | CLCN5 | c.759G>T (p.Arg253Ser) c.9G>T (p.Arg3Ser) c.549G>T (p.Arg183Ser) c.1046G>T c.609G>T (p.Arg203Ser) c.771G>T (p.Arg257Ser) | dbSNP |
| X | g.50081674G>A | CA413184077 | CLCN5 | c.760G>A (p.Gly254Ser) c.10G>A (p.Gly4Ser) c.550G>A (p.Gly184Ser) c.1047G>A c.610G>A (p.Gly204Ser) c.772G>A (p.Gly258Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081674G>C | CA413184078 | CLCN5 | c.760G>C (p.Gly254Arg) c.10G>C (p.Gly4Arg) c.550G>C (p.Gly184Arg) c.1047G>C c.610G>C (p.Gly204Arg) c.772G>C (p.Gly258Arg) | |
| X | g.50081674G= | CA2428767416 | CLCN5 | c.760G= (p.Gly254=) c.10G= (p.Gly4=) c.550G= (p.Gly184=) c.1047G= c.610G= (p.Gly204=) c.772G= (p.Gly258=) | |
| X | g.50081674G>T | CA413184079 | CLCN5 | c.760G>T (p.Gly254Cys) c.10G>T (p.Gly4Cys) c.550G>T (p.Gly184Cys) c.1047G>T c.610G>T (p.Gly204Cys) c.772G>T (p.Gly258Cys) | |
| X | g.50081675G>A | CA413184081 | CLCN5 | c.761G>A (p.Gly254Asp) c.11G>A (p.Gly4Asp) c.551G>A (p.Gly184Asp) c.1048G>A c.611G>A (p.Gly204Asp) c.773G>A (p.Gly258Asp) | |
| X | g.50081675G>C | CA413184082 | CLCN5 | c.761G>C (p.Gly254Ala) c.11G>C (p.Gly4Ala) c.551G>C (p.Gly184Ala) c.1048G>C c.611G>C (p.Gly204Ala) c.773G>C (p.Gly258Ala) | |
| X | g.50081675G>T | CA413184080 | CLCN5 | c.761G>T (p.Gly254Val) c.11G>T (p.Gly4Val) c.551G>T (p.Gly184Val) c.1048G>T c.611G>T (p.Gly204Val) c.773G>T (p.Gly258Val) | |
| X | g.50081676C>A | CA516469945 | CLCN5 | c.762C>A (p.Gly254=) c.12C>A (p.Gly4=) c.552C>A (p.Gly184=) c.1049C>A c.612C>A (p.Gly204=) c.774C>A (p.Gly258=) | |
| X | g.50081676C>G | CA516469946 | CLCN5 | c.762C>G (p.Gly254=) c.12C>G (p.Gly4=) c.552C>G (p.Gly184=) c.1049C>G c.612C>G (p.Gly204=) c.774C>G (p.Gly258=) | |
| X | g.50081676C>T | CA516469947 | CLCN5 | c.762C>T (p.Gly254=) c.12C>T (p.Gly4=) c.552C>T (p.Gly184=) c.1049C>T c.612C>T (p.Gly204=) c.774C>T (p.Gly258=) | |
| X | g.50081677T>A | CA413184083 | CLCN5 | c.763T>A (p.Tyr255Asn) c.13T>A (p.Tyr5Asn) c.553T>A (p.Tyr185Asn) c.1050T>A c.613T>A (p.Tyr205Asn) c.775T>A (p.Tyr259Asn) | |
| X | g.50081677T>C | CA413184084 | CLCN5 | c.763T>C (p.Tyr255His) c.13T>C (p.Tyr5His) c.553T>C (p.Tyr185His) c.1050T>C c.613T>C (p.Tyr205His) c.775T>C (p.Tyr259His) | |
| X | g.50081677T>G | CA413184085 | CLCN5 | c.763T>G (p.Tyr255Asp) c.13T>G (p.Tyr5Asp) c.553T>G (p.Tyr185Asp) c.1050T>G c.613T>G (p.Tyr205Asp) c.775T>G (p.Tyr259Asp) | |
| X | g.50081678A>C | CA413184086 | CLCN5 | c.764A>C (p.Tyr255Ser) c.14A>C (p.Tyr5Ser) c.554A>C (p.Tyr185Ser) c.1051A>C c.614A>C (p.Tyr205Ser) c.776A>C (p.Tyr259Ser) | |
| X | g.50081678A>G | CA413184087 | CLCN5 | c.764A>G (p.Tyr255Cys) c.14A>G (p.Tyr5Cys) c.554A>G (p.Tyr185Cys) c.1051A>G c.614A>G (p.Tyr205Cys) c.776A>G (p.Tyr259Cys) | |
| X | g.50081678A>T | CA413184088 | CLCN5 | c.764A>T (p.Tyr255Phe) c.14A>T (p.Tyr5Phe) c.554A>T (p.Tyr185Phe) c.1051A>T c.614A>T (p.Tyr205Phe) c.776A>T (p.Tyr259Phe) | |
| X | g.50081679T>A | CA413184089 | CLCN5 | c.765T>A (p.Tyr255Ter) c.15T>A (p.Tyr5Ter) c.555T>A (p.Tyr185Ter) c.1052T>A c.615T>A (p.Tyr205Ter) c.777T>A (p.Tyr259Ter) | COSMIC COSMIC |
| X | g.50081679T>C | CA10413789 | CLCN5 | c.765T>C (p.Tyr255=) c.15T>C (p.Tyr5=) c.555T>C (p.Tyr185=) c.1052T>C c.615T>C (p.Tyr205=) c.777T>C (p.Tyr259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081679T>G | CA413184090 | CLCN5 | c.765T>G (p.Tyr255Ter) c.15T>G (p.Tyr5Ter) c.555T>G (p.Tyr185Ter) c.1052T>G c.615T>G (p.Tyr205Ter) c.777T>G (p.Tyr259Ter) | |
| X | g.50081679T= | CA2428767417 | CLCN5 | c.765T= (p.Tyr255=) c.15T= (p.Tyr5=) c.555T= (p.Tyr185=) c.1052T= c.615T= (p.Tyr205=) c.777T= (p.Tyr259=) | |
| X | g.50081680T>A | CA413184091 | CLCN5 | c.766T>A (p.Leu256Met) c.16T>A (p.Leu6Met) c.556T>A (p.Leu186Met) c.1053T>A c.616T>A (p.Leu206Met) c.778T>A (p.Leu260Met) | gnomAD v4 |
| X | g.50081680T>C | CA516469948 | CLCN5 | c.766T>C (p.Leu256=) c.16T>C (p.Leu6=) c.556T>C (p.Leu186=) c.1053T>C c.616T>C (p.Leu206=) c.778T>C (p.Leu260=) | gnomAD v4 |
| X | g.50081680T>G | CA413184092 | CLCN5 | c.766T>G (p.Leu256Val) c.16T>G (p.Leu6Val) c.556T>G (p.Leu186Val) c.1053T>G c.616T>G (p.Leu206Val) c.778T>G (p.Leu260Val) | |
| X | g.50081681T>A | CA413184093 | CLCN5 | c.767T>A (p.Leu256Ter) c.17T>A (p.Leu6Ter) c.557T>A (p.Leu186Ter) c.1054T>A c.617T>A (p.Leu206Ter) c.779T>A (p.Leu260Ter) | |
| X | g.50081681T>C | CA413184094 | CLCN5 | c.767T>C (p.Leu256Ser) c.17T>C (p.Leu6Ser) c.557T>C (p.Leu186Ser) c.1054T>C c.617T>C (p.Leu206Ser) c.779T>C (p.Leu260Ser) | |
| X | g.50081681T>G | CA413184095 | CLCN5 | c.767T>G (p.Leu256Trp) c.17T>G (p.Leu6Trp) c.557T>G (p.Leu186Trp) c.1054T>G c.617T>G (p.Leu206Trp) c.779T>G (p.Leu260Trp) | |
| X | g.50081682G>A | CA516469949 | CLCN5 | c.768G>A (p.Leu256=) c.18G>A (p.Leu6=) c.558G>A (p.Leu186=) c.1055G>A c.618G>A (p.Leu206=) c.780G>A (p.Leu260=) | gnomAD v4 |
| X | g.50081682G>C | CA413184096 | CLCN5 | c.768G>C (p.Leu256Phe) c.18G>C (p.Leu6Phe) c.558G>C (p.Leu186Phe) c.1055G>C c.618G>C (p.Leu206Phe) c.780G>C (p.Leu260Phe) | gnomAD v4 |
| X | g.50081682G>T | CA413184097 | CLCN5 | c.768G>T (p.Leu256Phe) c.18G>T (p.Leu6Phe) c.558G>T (p.Leu186Phe) c.1055G>T c.618G>T (p.Leu206Phe) c.780G>T (p.Leu260Phe) | |
| X | g.50081683G>A | CA413184098 | CLCN5 | c.769G>A (p.Gly257Ser) c.19G>A (p.Gly7Ser) c.559G>A (p.Gly187Ser) c.1056G>A c.619G>A (p.Gly207Ser) c.781G>A (p.Gly261Ser) | |
| X | g.50081683G>C | CA413184099 | CLCN5 | c.769G>C (p.Gly257Arg) c.19G>C (p.Gly7Arg) c.559G>C (p.Gly187Arg) c.1056G>C c.619G>C (p.Gly207Arg) c.781G>C (p.Gly261Arg) | |
| X | g.50081683G>T | CA413184100 | CLCN5 | c.769G>T (p.Gly257Cys) c.19G>T (p.Gly7Cys) c.559G>T (p.Gly187Cys) c.1056G>T c.619G>T (p.Gly207Cys) c.781G>T (p.Gly261Cys) | |
| X | g.50081684G>A | CA413184101 | CLCN5 | c.770G>A (p.Gly257Asp) c.20G>A (p.Gly7Asp) c.560G>A (p.Gly187Asp) c.1057G>A c.620G>A (p.Gly207Asp) c.782G>A (p.Gly261Asp) | |
| X | g.50081684G>C | CA413184102 | CLCN5 | c.770G>C (p.Gly257Ala) c.20G>C (p.Gly7Ala) c.560G>C (p.Gly187Ala) c.1057G>C c.620G>C (p.Gly207Ala) c.782G>C (p.Gly261Ala) | |
| X | g.50081684G= | CA2428767418 | CLCN5 | c.770G= (p.Gly257=) c.20G= (p.Gly7=) c.560G= (p.Gly187=) c.1057G= c.620G= (p.Gly207=) c.782G= (p.Gly261=) | |
| X | g.50081684G>T | CA413184103 | CLCN5 | c.770G>T (p.Gly257Val) c.20G>T (p.Gly7Val) c.560G>T (p.Gly187Val) c.1057G>T c.620G>T (p.Gly207Val) c.782G>T (p.Gly261Val) | dbSNP |
| X | g.50081685T>A | CA516469951 | CLCN5 | c.771T>A (p.Gly257=) c.21T>A (p.Gly7=) c.561T>A (p.Gly187=) c.1058T>A c.621T>A (p.Gly207=) c.783T>A (p.Gly261=) | |
| X | g.50081685T>C | CA516469952 | CLCN5 | c.771T>C (p.Gly257=) c.21T>C (p.Gly7=) c.561T>C (p.Gly187=) c.1058T>C c.621T>C (p.Gly207=) c.783T>C (p.Gly261=) | |
| X | g.50081685T>G | CA516469950 | CLCN5 | c.771T>G (p.Gly257=) c.21T>G (p.Gly7=) c.561T>G (p.Gly187=) c.1058T>G c.621T>G (p.Gly207=) c.783T>G (p.Gly261=) | |
| X | g.50081686A= | CA2428767419 | CLCN5 | c.772A= (p.Lys258=) c.22A= (p.Lys8=) c.562A= (p.Lys188=) c.1059A= c.622A= (p.Lys208=) c.784A= (p.Lys262=) | |
| X | g.50081686A>C | CA413184104 | CLCN5 | c.772A>C (p.Lys258Gln) c.22A>C (p.Lys8Gln) c.562A>C (p.Lys188Gln) c.1059A>C c.622A>C (p.Lys208Gln) c.784A>C (p.Lys262Gln) | |
| X | g.50081686A>G | CA413184105 | CLCN5 | c.772A>G (p.Lys258Glu) c.22A>G (p.Lys8Glu) c.562A>G (p.Lys188Glu) c.1059A>G c.622A>G (p.Lys208Glu) c.784A>G (p.Lys262Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50081686A>T | CA413184106 | CLCN5 | c.772A>T (p.Lys258Ter) c.22A>T (p.Lys8Ter) c.562A>T (p.Lys188Ter) c.1059A>T c.622A>T (p.Lys208Ter) c.784A>T (p.Lys262Ter) | |
| X | g.50081687A>C | CA413184107 | CLCN5 | c.773A>C (p.Lys258Thr) c.23A>C (p.Lys8Thr) c.563A>C (p.Lys188Thr) c.1060A>C c.623A>C (p.Lys208Thr) c.785A>C (p.Lys262Thr) | |
| X | g.50081687A>G | CA413184108 | CLCN5 | c.773A>G (p.Lys258Arg) c.23A>G (p.Lys8Arg) c.563A>G (p.Lys188Arg) c.1060A>G c.623A>G (p.Lys208Arg) c.785A>G (p.Lys262Arg) | COSMIC COSMIC |
| X | g.50081687A>T | CA413184109 | CLCN5 | c.773A>T (p.Lys258Met) c.23A>T (p.Lys8Met) c.563A>T (p.Lys188Met) c.1060A>T c.623A>T (p.Lys208Met) c.785A>T (p.Lys262Met) | |
| X | g.50081688G>A | CA516469953 | CLCN5 | c.774G>A (p.Lys258=) c.24G>A (p.Lys8=) c.564G>A (p.Lys188=) c.1061G>A c.624G>A (p.Lys208=) c.786G>A (p.Lys262=) | gnomAD v4 |
| X | g.50081688G>C | CA413184111 | CLCN5 | c.774G>C (p.Lys258Asn) c.24G>C (p.Lys8Asn) c.564G>C (p.Lys188Asn) c.1061G>C c.624G>C (p.Lys208Asn) c.786G>C (p.Lys262Asn) | |
| X | g.50081688G>T | CA413184110 | CLCN5 | c.774G>T (p.Lys258Asn) c.24G>T (p.Lys8Asn) c.564G>T (p.Lys188Asn) c.1061G>T c.624G>T (p.Lys208Asn) c.786G>T (p.Lys262Asn) | |
| X | g.50081689T>A | CA413184112 | CLCN5 | c.775T>A (p.Trp259Arg) c.25T>A (p.Trp9Arg) c.565T>A (p.Trp189Arg) c.1062T>A c.625T>A (p.Trp209Arg) c.787T>A (p.Trp263Arg) | |
| X | g.50081689T>C | CA413184114 | CLCN5 | c.775T>C (p.Trp259Arg) c.25T>C (p.Trp9Arg) c.565T>C (p.Trp189Arg) c.1062T>C c.625T>C (p.Trp209Arg) c.787T>C (p.Trp263Arg) | |
| X | g.50081689T>G | CA413184113 | CLCN5 | c.775T>G (p.Trp259Gly) c.25T>G (p.Trp9Gly) c.565T>G (p.Trp189Gly) c.1062T>G c.625T>G (p.Trp209Gly) c.787T>G (p.Trp263Gly) | |
| X | g.50081690G>A | CA413184115 | CLCN5 | c.776G>A (p.Trp259Ter) c.26G>A (p.Trp9Ter) c.566G>A (p.Trp189Ter) c.1063G>A c.626G>A (p.Trp209Ter) c.788G>A (p.Trp263Ter) | ClinVar |
| X | g.50081690G>C | CA413184116 | CLCN5 | c.776G>C (p.Trp259Ser) c.26G>C (p.Trp9Ser) c.566G>C (p.Trp189Ser) c.1063G>C c.626G>C (p.Trp209Ser) c.788G>C (p.Trp263Ser) | |
| X | g.50081690G>T | CA413184117 | CLCN5 | c.776G>T (p.Trp259Leu) c.26G>T (p.Trp9Leu) c.566G>T (p.Trp189Leu) c.1063G>T c.626G>T (p.Trp209Leu) c.788G>T (p.Trp263Leu) | |
| X | g.50081691G>A | CA413184118 | CLCN5 | c.777G>A (p.Trp259Ter) c.27G>A (p.Trp9Ter) c.567G>A (p.Trp189Ter) c.1064G>A c.627G>A (p.Trp209Ter) c.789G>A (p.Trp263Ter) | |
| X | g.50081691G>C | CA413184119 | CLCN5 | c.777G>C (p.Trp259Cys) c.27G>C (p.Trp9Cys) c.567G>C (p.Trp189Cys) c.1064G>C c.627G>C (p.Trp209Cys) c.789G>C (p.Trp263Cys) | |
| X | g.50081691G>T | CA413184120 | CLCN5 | c.777G>T (p.Trp259Cys) c.27G>T (p.Trp9Cys) c.567G>T (p.Trp189Cys) c.1064G>T c.627G>T (p.Trp209Cys) c.789G>T (p.Trp263Cys) | |
| X | g.50081692A= | CA2428767420 | CLCN5 | c.778A= (p.Thr260=) c.28A= (p.Thr10=) c.568A= (p.Thr190=) c.1065A= c.628A= (p.Thr210=) c.790A= (p.Thr264=) | |
| X | g.50081692A>C | CA413184121 | CLCN5 | c.778A>C (p.Thr260Pro) c.28A>C (p.Thr10Pro) c.568A>C (p.Thr190Pro) c.1065A>C c.628A>C (p.Thr210Pro) c.790A>C (p.Thr264Pro) | |
| X | g.50081692A>G | CA413184122 | CLCN5 | c.778A>G (p.Thr260Ala) c.28A>G (p.Thr10Ala) c.568A>G (p.Thr190Ala) c.1065A>G c.628A>G (p.Thr210Ala) c.790A>G (p.Thr264Ala) | dbSNP |
| X | g.50081692A>T | CA413184123 | CLCN5 | c.778A>T (p.Thr260Ser) c.28A>T (p.Thr10Ser) c.568A>T (p.Thr190Ser) c.1065A>T c.628A>T (p.Thr210Ser) c.790A>T (p.Thr264Ser) | |
| X | g.50081694_50081714del | CA2695233659 | CLCN5 | c.780_800del (p.Leu261_Thr267del) c.30_50del (p.Leu11_Thr17del) c.570_590del (p.Leu191_Thr197del) c.1067_1087del c.630_650del (p.Leu211_Thr217del) c.792_812del (p.Leu265_Thr271del) | |
| X | g.50081693C>A | CA413184124 | CLCN5 | c.779C>A (p.Thr260Asn) c.29C>A (p.Thr10Asn) c.569C>A (p.Thr190Asn) c.1066C>A c.629C>A (p.Thr210Asn) c.791C>A (p.Thr264Asn) | |
| X | g.50081693C>G | CA413184125 | CLCN5 | c.779C>G (p.Thr260Ser) c.29C>G (p.Thr10Ser) c.569C>G (p.Thr190Ser) c.1066C>G c.629C>G (p.Thr210Ser) c.791C>G (p.Thr264Ser) | |
| X | g.50081693C>T | CA413184126 | CLCN5 | c.779C>T (p.Thr260Ile) c.29C>T (p.Thr10Ile) c.569C>T (p.Thr190Ile) c.1066C>T c.629C>T (p.Thr210Ile) c.791C>T (p.Thr264Ile) | |
| X | g.50081695_50081716del | CA2695233660 | CLCN5 | c.781_802del (p.Leu261TrpfsTer9) c.31_52del (p.Leu11TrpfsTer9) c.571_592del (p.Leu191TrpfsTer9) c.1068_1089del c.631_652del (p.Leu211TrpfsTer9) c.793_814del (p.Leu265TrpfsTer9) | |
| X | g.50081694T>A | CA516469954 | CLCN5 | c.780T>A (p.Thr260=) c.30T>A (p.Thr10=) c.570T>A (p.Thr190=) c.1067T>A c.630T>A (p.Thr210=) c.792T>A (p.Thr264=) | |
| X | g.50081694T>C | CA516469955 | CLCN5 | c.780T>C (p.Thr260=) c.30T>C (p.Thr10=) c.570T>C (p.Thr190=) c.1067T>C c.630T>C (p.Thr210=) c.792T>C (p.Thr264=) | |
| X | g.50081694T>G | CA516469956 | CLCN5 | c.780T>G (p.Thr260=) c.30T>G (p.Thr10=) c.570T>G (p.Thr190=) c.1067T>G c.630T>G (p.Thr210=) c.792T>G (p.Thr264=) | |
| X | g.50081695C>A | CA413184128 | CLCN5 | c.781C>A (p.Leu261Met) c.31C>A (p.Leu11Met) c.571C>A (p.Leu191Met) c.1068C>A c.631C>A (p.Leu211Met) c.793C>A (p.Leu265Met) | |
| X | g.50081695C>G | CA413184127 | CLCN5 | c.781C>G (p.Leu261Val) c.31C>G (p.Leu11Val) c.571C>G (p.Leu191Val) c.1068C>G c.631C>G (p.Leu211Val) c.793C>G (p.Leu265Val) | |
| X | g.50081695C>T | CA516469957 | CLCN5 | c.781C>T (p.Leu261=) c.31C>T (p.Leu11=) c.571C>T (p.Leu191=) c.1068C>T c.631C>T (p.Leu211=) c.793C>T (p.Leu265=) | |
| X | g.50081696T>A | CA413184130 | CLCN5 | c.782T>A (p.Leu261Gln) c.32T>A (p.Leu11Gln) c.572T>A (p.Leu191Gln) c.1069T>A c.632T>A (p.Leu211Gln) c.794T>A (p.Leu265Gln) | |
| X | g.50081696T>C | CA413184132 | CLCN5 | c.782T>C (p.Leu261Pro) c.32T>C (p.Leu11Pro) c.572T>C (p.Leu191Pro) c.1069T>C c.632T>C (p.Leu211Pro) c.794T>C (p.Leu265Pro) | gnomAD v4 |
| X | g.50081696T>G | CA413184133 | CLCN5 | c.782T>G (p.Leu261Arg) c.32T>G (p.Leu11Arg) c.572T>G (p.Leu191Arg) c.1069T>G c.632T>G (p.Leu211Arg) c.794T>G (p.Leu265Arg) | |
| X | g.50081697G>A | CA516469958 | CLCN5 | c.783G>A (p.Leu261=) c.33G>A (p.Leu11=) c.573G>A (p.Leu191=) c.1070G>A c.633G>A (p.Leu211=) c.795G>A (p.Leu265=) | |
| X | g.50081697G>C | CA516469960 | CLCN5 | c.783G>C (p.Leu261=) c.33G>C (p.Leu11=) c.573G>C (p.Leu191=) c.1070G>C c.633G>C (p.Leu211=) c.795G>C (p.Leu265=) | |
| X | g.50081697G>T | CA516469959 | CLCN5 | c.783G>T (p.Leu261=) c.33G>T (p.Leu11=) c.573G>T (p.Leu191=) c.1070G>T c.633G>T (p.Leu211=) c.795G>T (p.Leu265=) | |
| X | g.50081698del | CA2695233661 | CLCN5 | c.784del (p.Val262LeufsTer15) c.34del (p.Val12LeufsTer15) c.574del (p.Val192LeufsTer15) c.1071del c.634del (p.Val212LeufsTer15) c.796del (p.Val266LeufsTer15) | |
| X | g.50081698G>A | CA413184134 | CLCN5 | c.784G>A (p.Val262Ile) c.34G>A (p.Val12Ile) c.574G>A (p.Val192Ile) c.1071G>A c.634G>A (p.Val212Ile) c.796G>A (p.Val266Ile) | |
| X | g.50081698G>C | CA413184135 | CLCN5 | c.784G>C (p.Val262Leu) c.34G>C (p.Val12Leu) c.574G>C (p.Val192Leu) c.1071G>C c.634G>C (p.Val212Leu) c.796G>C (p.Val266Leu) | dbSNP |
| X | g.50081698G= | CA2428767421 | CLCN5 | c.784G= (p.Val262=) c.34G= (p.Val12=) c.574G= (p.Val192=) c.1071G= c.634G= (p.Val212=) c.796G= (p.Val266=) | |
| X | g.50081698G>T | CA413184136 | CLCN5 | c.784G>T (p.Val262Phe) c.34G>T (p.Val12Phe) c.574G>T (p.Val192Phe) c.1071G>T c.634G>T (p.Val212Phe) c.796G>T (p.Val266Phe) | gnomAD v4 |
| X | g.50081699T>A | CA413184137 | CLCN5 | c.785T>A (p.Val262Asp) c.35T>A (p.Val12Asp) c.575T>A (p.Val192Asp) c.1072T>A c.635T>A (p.Val212Asp) c.797T>A (p.Val266Asp) | |
| X | g.50081699T>C | CA413184138 | CLCN5 | c.785T>C (p.Val262Ala) c.35T>C (p.Val12Ala) c.575T>C (p.Val192Ala) c.1072T>C c.635T>C (p.Val212Ala) c.797T>C (p.Val266Ala) | |
| X | g.50081699T>G | CA413184139 | CLCN5 | c.785T>G (p.Val262Gly) c.35T>G (p.Val12Gly) c.575T>G (p.Val192Gly) c.1072T>G c.635T>G (p.Val212Gly) c.797T>G (p.Val266Gly) | |
| X | g.50081700T>A | CA516469963 | CLCN5 | c.786T>A (p.Val262=) c.36T>A (p.Val12=) c.576T>A (p.Val192=) c.1073T>A c.636T>A (p.Val212=) c.798T>A (p.Val266=) | |
| X | g.50081700T>C | CA516469962 | CLCN5 | c.786T>C (p.Val262=) c.36T>C (p.Val12=) c.576T>C (p.Val192=) c.1073T>C c.636T>C (p.Val212=) c.798T>C (p.Val266=) | |
| X | g.50081700T>G | CA516469961 | CLCN5 | c.786T>G (p.Val262=) c.36T>G (p.Val12=) c.576T>G (p.Val192=) c.1073T>G c.636T>G (p.Val212=) c.798T>G (p.Val266=) | |
| X | g.50081701A= | CA2428767422 | CLCN5 | c.787A= (p.Ile263=) c.37A= (p.Ile13=) c.577A= (p.Ile193=) c.1074A= c.637A= (p.Ile213=) c.799A= (p.Ile267=) | |
| X | g.50081701A>C | CA413184140 | CLCN5 | c.787A>C (p.Ile263Leu) c.37A>C (p.Ile13Leu) c.577A>C (p.Ile193Leu) c.1074A>C c.637A>C (p.Ile213Leu) c.799A>C (p.Ile267Leu) | |
| X | g.50081701A>G | CA10413790 | CLCN5 | c.787A>G (p.Ile263Val) c.37A>G (p.Ile13Val) c.577A>G (p.Ile193Val) c.1074A>G c.637A>G (p.Ile213Val) c.799A>G (p.Ile267Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50081701A>T | CA413184141 | CLCN5 | c.787A>T (p.Ile263Phe) c.37A>T (p.Ile13Phe) c.577A>T (p.Ile193Phe) c.1074A>T c.637A>T (p.Ile213Phe) c.799A>T (p.Ile267Phe) | |
| X | g.50081702T>A | CA413184144 | CLCN5 | c.788T>A (p.Ile263Asn) c.38T>A (p.Ile13Asn) c.578T>A (p.Ile193Asn) c.1075T>A c.638T>A (p.Ile213Asn) c.800T>A (p.Ile267Asn) | |
| X | g.50081702T>C | CA413184143 | CLCN5 | c.788T>C (p.Ile263Thr) c.38T>C (p.Ile13Thr) c.578T>C (p.Ile193Thr) c.1075T>C c.638T>C (p.Ile213Thr) c.800T>C (p.Ile267Thr) | |
| X | g.50081702T>G | CA413184142 | CLCN5 | c.788T>G (p.Ile263Ser) c.38T>G (p.Ile13Ser) c.578T>G (p.Ile193Ser) c.1075T>G c.638T>G (p.Ile213Ser) c.800T>G (p.Ile267Ser) | |
| X | g.50081703C>A | CA516469964 | CLCN5 | c.789C>A (p.Ile263=) c.39C>A (p.Ile13=) c.579C>A (p.Ile193=) c.1076C>A c.639C>A (p.Ile213=) c.801C>A (p.Ile267=) | |
| X | g.50081703C>G | CA413184145 | CLCN5 | c.789C>G (p.Ile263Met) c.39C>G (p.Ile13Met) c.579C>G (p.Ile193Met) c.1076C>G c.639C>G (p.Ile213Met) c.801C>G (p.Ile267Met) | |
| X | g.50081703C>T | CA516469965 | CLCN5 | c.789C>T (p.Ile263=) c.39C>T (p.Ile13=) c.579C>T (p.Ile193=) c.1076C>T c.639C>T (p.Ile213=) c.801C>T (p.Ile267=) | |
| X | g.50081704A>C | CA413184146 | CLCN5 | c.790A>C (p.Lys264Gln) c.40A>C (p.Lys14Gln) c.580A>C (p.Lys194Gln) c.1077A>C c.640A>C (p.Lys214Gln) c.802A>C (p.Lys268Gln) | |
| X | g.50081704A>G | CA413184147 | CLCN5 | c.790A>G (p.Lys264Glu) c.40A>G (p.Lys14Glu) c.580A>G (p.Lys194Glu) c.1077A>G c.640A>G (p.Lys214Glu) c.802A>G (p.Lys268Glu) | gnomAD v4 |
| X | g.50081704A>T | CA413184148 | CLCN5 | c.790A>T (p.Lys264Ter) c.40A>T (p.Lys14Ter) c.580A>T (p.Lys194Ter) c.1077A>T c.640A>T (p.Lys214Ter) c.802A>T (p.Lys268Ter) | |
| X | g.50081705A>C | CA413184149 | CLCN5 | c.791A>C (p.Lys264Thr) c.41A>C (p.Lys14Thr) c.581A>C (p.Lys194Thr) c.1078A>C c.641A>C (p.Lys214Thr) c.803A>C (p.Lys268Thr) | |
| X | g.50081705A>G | CA413184150 | CLCN5 | c.791A>G (p.Lys264Arg) c.41A>G (p.Lys14Arg) c.581A>G (p.Lys194Arg) c.1078A>G c.641A>G (p.Lys214Arg) c.803A>G (p.Lys268Arg) | |
| X | g.50081705A>T | CA413184151 | CLCN5 | c.791A>T (p.Lys264Ile) c.41A>T (p.Lys14Ile) c.581A>T (p.Lys194Ile) c.1078A>T c.641A>T (p.Lys214Ile) c.803A>T (p.Lys268Ile) | |
| X | g.50081706A>C | CA413184153 | CLCN5 | c.792A>C (p.Lys264Asn) c.42A>C (p.Lys14Asn) c.582A>C (p.Lys194Asn) c.1079A>C c.642A>C (p.Lys214Asn) c.804A>C (p.Lys268Asn) | |
| X | g.50081706A>G | CA516469966 | CLCN5 | c.792A>G (p.Lys264=) c.42A>G (p.Lys14=) c.582A>G (p.Lys194=) c.1079A>G c.642A>G (p.Lys214=) c.804A>G (p.Lys268=) | |
| X | g.50081706A>T | CA413184152 | CLCN5 | c.792A>T (p.Lys264Asn) c.42A>T (p.Lys14Asn) c.582A>T (p.Lys194Asn) c.1079A>T c.642A>T (p.Lys214Asn) c.804A>T (p.Lys268Asn) | |
| X | g.50081707A>C | CA413184154 | CLCN5 | c.793A>C (p.Thr265Pro) c.43A>C (p.Thr15Pro) c.583A>C (p.Thr195Pro) c.1080A>C c.643A>C (p.Thr215Pro) c.805A>C (p.Thr269Pro) | |
| X | g.50081707A>G | CA413184155 | CLCN5 | c.793A>G (p.Thr265Ala) c.43A>G (p.Thr15Ala) c.583A>G (p.Thr195Ala) c.1080A>G c.643A>G (p.Thr215Ala) c.805A>G (p.Thr269Ala) | |
| X | g.50081707A>T | CA413184156 | CLCN5 | c.793A>T (p.Thr265Ser) c.43A>T (p.Thr15Ser) c.583A>T (p.Thr195Ser) c.1080A>T c.643A>T (p.Thr215Ser) c.805A>T (p.Thr269Ser) | |
| X | g.50081708C>A | CA413184157 | CLCN5 | c.794C>A (p.Thr265Asn) c.44C>A (p.Thr15Asn) c.584C>A (p.Thr195Asn) c.1081C>A c.644C>A (p.Thr215Asn) c.806C>A (p.Thr269Asn) | |
| X | g.50081708C= | CA2428767423 | CLCN5 | c.794C= (p.Thr265=) c.44C= (p.Thr15=) c.584C= (p.Thr195=) c.1081C= c.644C= (p.Thr215=) c.806C= (p.Thr269=) | |
| X | g.50081708C>G | CA413184158 | CLCN5 | c.794C>G (p.Thr265Ser) c.44C>G (p.Thr15Ser) c.584C>G (p.Thr195Ser) c.1081C>G c.644C>G (p.Thr215Ser) c.806C>G (p.Thr269Ser) | |
| X | g.50081708C>T | CA413184159 | CLCN5 | c.794C>T (p.Thr265Ile) c.44C>T (p.Thr15Ile) c.584C>T (p.Thr195Ile) c.1081C>T c.644C>T (p.Thr215Ile) c.806C>T (p.Thr269Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081709C>A | CA516469967 | CLCN5 | c.795C>A (p.Thr265=) c.45C>A (p.Thr15=) c.585C>A (p.Thr195=) c.1082C>A c.645C>A (p.Thr215=) c.807C>A (p.Thr269=) | |
| X | g.50081709C>G | CA516469968 | CLCN5 | c.795C>G (p.Thr265=) c.45C>G (p.Thr15=) c.585C>G (p.Thr195=) c.1082C>G c.645C>G (p.Thr215=) c.807C>G (p.Thr269=) | gnomAD v4 |
| X | g.50081709C>T | CA516469969 | CLCN5 | c.795C>T (p.Thr265=) c.45C>T (p.Thr15=) c.585C>T (p.Thr195=) c.1082C>T c.645C>T (p.Thr215=) c.807C>T (p.Thr269=) | |
| X | g.50081710A= | CA2428767424 | CLCN5 | c.796A= (p.Ile266=) c.46A= (p.Ile16=) c.586A= (p.Ile196=) c.1083A= c.646A= (p.Ile216=) c.808A= (p.Ile270=) | |
| X | g.50081710A>C | CA413184160 | CLCN5 | c.796A>C (p.Ile266Leu) c.46A>C (p.Ile16Leu) c.586A>C (p.Ile196Leu) c.1083A>C c.646A>C (p.Ile216Leu) c.808A>C (p.Ile270Leu) | |
| X | g.50081710A>G | CA10413791 | CLCN5 | c.796A>G (p.Ile266Val) c.46A>G (p.Ile16Val) c.586A>G (p.Ile196Val) c.1083A>G c.646A>G (p.Ile216Val) c.808A>G (p.Ile270Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081710A>T | CA413184161 | CLCN5 | c.796A>T (p.Ile266Phe) c.46A>T (p.Ile16Phe) c.586A>T (p.Ile196Phe) c.1083A>T c.646A>T (p.Ile216Phe) c.808A>T (p.Ile270Phe) | |
| X | g.50081711T>A | CA413184162 | CLCN5 | c.797T>A (p.Ile266Asn) c.47T>A (p.Ile16Asn) c.587T>A (p.Ile196Asn) c.1084T>A c.647T>A (p.Ile216Asn) c.809T>A (p.Ile270Asn) | |
| X | g.50081711T>C | CA413184163 | CLCN5 | c.797T>C (p.Ile266Thr) c.47T>C (p.Ile16Thr) c.587T>C (p.Ile196Thr) c.1084T>C c.647T>C (p.Ile216Thr) c.809T>C (p.Ile270Thr) | |
| X | g.50081711T>G | CA413184164 | CLCN5 | c.797T>G (p.Ile266Ser) c.47T>G (p.Ile16Ser) c.587T>G (p.Ile196Ser) c.1084T>G c.647T>G (p.Ile216Ser) c.809T>G (p.Ile270Ser) | |
| X | g.50081712C>A | CA516469970 | CLCN5 | c.798C>A (p.Ile266=) c.48C>A (p.Ile16=) c.588C>A (p.Ile196=) c.1085C>A c.648C>A (p.Ile216=) c.810C>A (p.Ile270=) | |
| X | g.50081712C= | CA2428767425 | CLCN5 | c.798C= (p.Ile266=) c.48C= (p.Ile16=) c.588C= (p.Ile196=) c.1085C= c.648C= (p.Ile216=) c.810C= (p.Ile270=) | |
| X | g.50081712C>G | CA413184165 | CLCN5 | c.798C>G (p.Ile266Met) c.48C>G (p.Ile16Met) c.588C>G (p.Ile196Met) c.1085C>G c.648C>G (p.Ile216Met) c.810C>G (p.Ile270Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50081712C>T | CA516469971 | CLCN5 | c.798C>T (p.Ile266=) c.48C>T (p.Ile16=) c.588C>T (p.Ile196=) c.1085C>T c.648C>T (p.Ile216=) c.810C>T (p.Ile270=) | |
| X | g.50081713A>C | CA413184166 | CLCN5 | c.799A>C (p.Thr267Pro) c.49A>C (p.Thr17Pro) c.589A>C (p.Thr197Pro) c.1086A>C c.649A>C (p.Thr217Pro) c.811A>C (p.Thr271Pro) | |
| X | g.50081713A>G | CA413184167 | CLCN5 | c.799A>G (p.Thr267Ala) c.49A>G (p.Thr17Ala) c.589A>G (p.Thr197Ala) c.1086A>G c.649A>G (p.Thr217Ala) c.811A>G (p.Thr271Ala) | gnomAD v4 |
| X | g.50081713A>T | CA413184168 | CLCN5 | c.799A>T (p.Thr267Ser) c.49A>T (p.Thr17Ser) c.589A>T (p.Thr197Ser) c.1086A>T c.649A>T (p.Thr217Ser) c.811A>T (p.Thr271Ser) | |
| X | g.50081714C>A | CA413184169 | CLCN5 | c.800C>A (p.Thr267Asn) c.50C>A (p.Thr17Asn) c.590C>A (p.Thr197Asn) c.1087C>A c.650C>A (p.Thr217Asn) c.812C>A (p.Thr271Asn) | gnomAD v4 |
| X | g.50081714C>G | CA413184170 | CLCN5 | c.800C>G (p.Thr267Ser) c.50C>G (p.Thr17Ser) c.590C>G (p.Thr197Ser) c.1087C>G c.650C>G (p.Thr217Ser) c.812C>G (p.Thr271Ser) | |
| X | g.50081714C>T | CA413184171 | CLCN5 | c.800C>T (p.Thr267Ile) c.50C>T (p.Thr17Ile) c.590C>T (p.Thr197Ile) c.1087C>T c.650C>T (p.Thr217Ile) c.812C>T (p.Thr271Ile) | |
| X | g.50081715C>A | CA516469972 | CLCN5 | c.801C>A (p.Thr267=) c.51C>A (p.Thr17=) c.591C>A (p.Thr197=) c.1088C>A c.651C>A (p.Thr217=) c.813C>A (p.Thr271=) | |
| X | g.50081715C>G | CA516469973 | CLCN5 | c.801C>G (p.Thr267=) c.51C>G (p.Thr17=) c.591C>G (p.Thr197=) c.1088C>G c.651C>G (p.Thr217=) c.813C>G (p.Thr271=) | |
| X | g.50081715C>T | CA516469974 | CLCN5 | c.801C>T (p.Thr267=) c.51C>T (p.Thr17=) c.591C>T (p.Thr197=) c.1088C>T c.651C>T (p.Thr217=) c.813C>T (p.Thr271=) | gnomAD v4 |
| X | g.50081716T>A | CA413184172 | CLCN5 | c.802T>A (p.Leu268Met) c.52T>A (p.Leu18Met) c.592T>A (p.Leu198Met) c.1089T>A c.652T>A (p.Leu218Met) c.814T>A (p.Leu272Met) | |
| X | g.50081716T>C | CA516469975 | CLCN5 | c.802T>C (p.Leu268=) c.52T>C (p.Leu18=) c.592T>C (p.Leu198=) c.1089T>C c.652T>C (p.Leu218=) c.814T>C (p.Leu272=) | |
| X | g.50081716T>G | CA413184173 | CLCN5 | c.802T>G (p.Leu268Val) c.52T>G (p.Leu18Val) c.592T>G (p.Leu198Val) c.1089T>G c.652T>G (p.Leu218Val) c.814T>G (p.Leu272Val) | gnomAD v4 |
| X | g.50081717T>A | CA413184175 | CLCN5 | c.803T>A (p.Leu268Ter) c.53T>A (p.Leu18Ter) c.593T>A (p.Leu198Ter) c.1090T>A c.653T>A (p.Leu218Ter) c.815T>A (p.Leu272Ter) | gnomAD v4 |
| X | g.50081717T>C | CA413184176 | CLCN5 | c.803T>C (p.Leu268Ser) c.53T>C (p.Leu18Ser) c.593T>C (p.Leu198Ser) c.1090T>C c.653T>C (p.Leu218Ser) c.815T>C (p.Leu272Ser) | gnomAD v4 |
| X | g.50081717T>G | CA413184174 | CLCN5 | c.803T>G (p.Leu268Trp) c.53T>G (p.Leu18Trp) c.593T>G (p.Leu198Trp) c.1090T>G c.653T>G (p.Leu218Trp) c.815T>G (p.Leu272Trp) | |
| X | g.50081717_50081718delinsTG | CA2428767426 | CLCN5 | c.803_804delinsTG (p.Leu268=) c.53_54delinsTG (p.Leu18=) c.593_594delinsTG (p.Leu198=) c.1090_1091delinsTG c.653_654delinsTG (p.Leu218=) c.815_816delinsTG (p.Leu272=) | |
| X | g.50081718G>A | CA516469976 | CLCN5 | c.804G>A (p.Leu268=) c.54G>A (p.Leu18=) c.594G>A (p.Leu198=) c.1091G>A c.654G>A (p.Leu218=) c.816G>A (p.Leu272=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50081718G>C | CA413184177 | CLCN5 | c.804G>C (p.Leu268Phe) c.54G>C (p.Leu18Phe) c.594G>C (p.Leu198Phe) c.1091G>C c.654G>C (p.Leu218Phe) c.816G>C (p.Leu272Phe) | |
| X | g.50081718G= | CA2428767427 | CLCN5 | c.804G= (p.Leu268=) c.54G= (p.Leu18=) c.594G= (p.Leu198=) c.1091G= c.654G= (p.Leu218=) c.816G= (p.Leu272=) | |
| X | g.50081718G>T | CA413184178 | CLCN5 | c.804G>T (p.Leu268Phe) c.54G>T (p.Leu18Phe) c.594G>T (p.Leu198Phe) c.1091G>T c.654G>T (p.Leu218Phe) c.816G>T (p.Leu272Phe) | |
| X | g.50081719del | CA876001369 | CLCN5 | c.805del (p.Val269CysfsTer8) c.55del (p.Val19CysfsTer8) c.595del (p.Val199CysfsTer8) c.1092del c.655del (p.Val219CysfsTer8) c.817del (p.Val273CysfsTer8) | dbSNP |
| X | g.50081719G>A | CA413184179 | CLCN5 | c.805G>A (p.Val269Met) c.55G>A (p.Val19Met) c.595G>A (p.Val199Met) c.1092G>A c.655G>A (p.Val219Met) c.817G>A (p.Val273Met) | |
| X | g.50081719G>C | CA413184181 | CLCN5 | c.805G>C (p.Val269Leu) c.55G>C (p.Val19Leu) c.595G>C (p.Val199Leu) c.1092G>C c.655G>C (p.Val219Leu) c.817G>C (p.Val273Leu) | gnomAD v4 |
| X | g.50081719G>T | CA413184182 | CLCN5 | c.805G>T (p.Val269Leu) c.55G>T (p.Val19Leu) c.595G>T (p.Val199Leu) c.1092G>T c.655G>T (p.Val219Leu) c.817G>T (p.Val273Leu) | |
| X | g.50081720T>A | CA413184183 | CLCN5 | c.806T>A (p.Val269Glu) c.56T>A (p.Val19Glu) c.596T>A (p.Val199Glu) c.1093T>A c.656T>A (p.Val219Glu) c.818T>A (p.Val273Glu) | |
| X | g.50081720T>C | CA413184184 | CLCN5 | c.806T>C (p.Val269Ala) c.56T>C (p.Val19Ala) c.596T>C (p.Val199Ala) c.1093T>C c.656T>C (p.Val219Ala) c.818T>C (p.Val273Ala) | |
| X | g.50081720T>G | CA413184185 | CLCN5 | c.806T>G (p.Val269Gly) c.56T>G (p.Val19Gly) c.596T>G (p.Val199Gly) c.1093T>G c.656T>G (p.Val219Gly) c.818T>G (p.Val273Gly) | |
| X | g.50081721G>A | CA516469977 | CLCN5 | c.807G>A (p.Val269=) c.57G>A (p.Val19=) c.597G>A (p.Val199=) c.1094G>A c.657G>A (p.Val219=) c.819G>A (p.Val273=) | |
| X | g.50081721G>C | CA516469978 | CLCN5 | c.807G>C (p.Val269=) c.57G>C (p.Val19=) c.597G>C (p.Val199=) c.1094G>C c.657G>C (p.Val219=) c.819G>C (p.Val273=) | |
| X | g.50081721G>T | CA516469979 | CLCN5 | c.807G>T (p.Val269=) c.57G>T (p.Val19=) c.597G>T (p.Val199=) c.1094G>T c.657G>T (p.Val219=) c.819G>T (p.Val273=) | |
| X | g.50081721_50081722dup | CA2695233662 | CLCN5 | c.807_808dup (p.Leu270ArgfsTer8) c.57_58dup (p.Leu20ArgfsTer8) c.597_598dup (p.Leu200ArgfsTer8) c.1094_1095dup c.657_658dup (p.Leu220ArgfsTer8) c.819_820dup (p.Leu274ArgfsTer8) | |
| X | g.50081722C>A | CA413184186 | CLCN5 | c.808C>A (p.Leu270Met) c.58C>A (p.Leu20Met) c.598C>A (p.Leu200Met) c.1095C>A c.658C>A (p.Leu220Met) c.820C>A (p.Leu274Met) | gnomAD v4 |
| X | g.50081722C>G | CA413184187 | CLCN5 | c.808C>G (p.Leu270Val) c.58C>G (p.Leu20Val) c.598C>G (p.Leu200Val) c.1095C>G c.658C>G (p.Leu220Val) c.820C>G (p.Leu274Val) | |
| X | g.50081722C>T | CA516469980 | CLCN5 | c.808C>T (p.Leu270=) c.58C>T (p.Leu20=) c.598C>T (p.Leu200=) c.1095C>T c.658C>T (p.Leu220=) c.820C>T (p.Leu274=) | |
| X | g.50081723T>A | CA413184188 | CLCN5 | c.809T>A (p.Leu270Gln) c.59T>A (p.Leu20Gln) c.599T>A (p.Leu200Gln) c.1096T>A c.659T>A (p.Leu220Gln) c.821T>A (p.Leu274Gln) | |
| X | g.50081723T>C | CA413184189 | CLCN5 | c.809T>C (p.Leu270Pro) c.59T>C (p.Leu20Pro) c.599T>C (p.Leu200Pro) c.1096T>C c.659T>C (p.Leu220Pro) c.821T>C (p.Leu274Pro) | |
| X | g.50081723T>G | CA256079 | CLCN5 | c.809T>G (p.Leu270Arg) c.59T>G (p.Leu20Arg) c.599T>G (p.Leu200Arg) c.1096T>G c.659T>G (p.Leu220Arg) c.821T>G (p.Leu274Arg) | ClinVar dbSNP |
| X | g.50081723T= | CA2428767428 | CLCN5 | c.809T= (p.Leu270=) c.59T= (p.Leu20=) c.599T= (p.Leu200=) c.1096T= c.659T= (p.Leu220=) c.821T= (p.Leu274=) | |
| X | g.50081724G>A | CA10413792 | CLCN5 | c.810G>A (p.Leu270=) c.60G>A (p.Leu20=) c.600G>A (p.Leu200=) c.1097G>A c.660G>A (p.Leu220=) c.822G>A (p.Leu274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081724G>C | CA516469982 | CLCN5 | c.810G>C (p.Leu270=) c.60G>C (p.Leu20=) c.600G>C (p.Leu200=) c.1097G>C c.660G>C (p.Leu220=) c.822G>C (p.Leu274=) | |
| X | g.50081724G= | CA2428767429 | CLCN5 | c.810G= (p.Leu270=) c.60G= (p.Leu20=) c.600G= (p.Leu200=) c.1097G= c.660G= (p.Leu220=) c.822G= (p.Leu274=) | |
| X | g.50081724G>T | CA516469981 | CLCN5 | c.810G>T (p.Leu270=) c.60G>T (p.Leu20=) c.600G>T (p.Leu200=) c.1097G>T c.660G>T (p.Leu220=) c.822G>T (p.Leu274=) | |
| X | g.50081725G>A | CA413184192 | CLCN5 | c.811G>A (p.Ala271Thr) c.61G>A (p.Ala21Thr) c.601G>A (p.Ala201Thr) c.1098G>A c.661G>A (p.Ala221Thr) c.823G>A (p.Ala275Thr) | dbSNP gnomAD v4 |
| X | g.50081725G>C | CA413184191 | CLCN5 | c.811G>C (p.Ala271Pro) c.61G>C (p.Ala21Pro) c.601G>C (p.Ala201Pro) c.1098G>C c.661G>C (p.Ala221Pro) c.823G>C (p.Ala275Pro) | |
| X | g.50081725G= | CA2428767430 | CLCN5 | c.811G= (p.Ala271=) c.61G= (p.Ala21=) c.601G= (p.Ala201=) c.1098G= c.661G= (p.Ala221=) c.823G= (p.Ala275=) | |
| X | g.50081725G>T | CA413184190 | CLCN5 | c.811G>T (p.Ala271Ser) c.61G>T (p.Ala21Ser) c.601G>T (p.Ala201Ser) c.1098G>T c.661G>T (p.Ala221Ser) c.823G>T (p.Ala275Ser) | |
| X | g.50081726C>A | CA413184193 | CLCN5 | c.812C>A (p.Ala271Glu) c.62C>A (p.Ala21Glu) c.602C>A (p.Ala201Glu) c.1099C>A c.662C>A (p.Ala221Glu) c.824C>A (p.Ala275Glu) | |
| X | g.50081726C>G | CA413184194 | CLCN5 | c.812C>G (p.Ala271Gly) c.62C>G (p.Ala21Gly) c.602C>G (p.Ala201Gly) c.1099C>G c.662C>G (p.Ala221Gly) c.824C>G (p.Ala275Gly) | |
| X | g.50081726C>T | CA413184195 | CLCN5 | c.812C>T (p.Ala271Val) c.62C>T (p.Ala21Val) c.602C>T (p.Ala201Val) c.1099C>T c.662C>T (p.Ala221Val) c.824C>T (p.Ala275Val) | ClinVar |
| X | g.50081727A>C | CA516469983 | CLCN5 | c.813A>C (p.Ala271=) c.63A>C (p.Ala21=) c.603A>C (p.Ala201=) c.1100A>C c.663A>C (p.Ala221=) c.825A>C (p.Ala275=) | |
| X | g.50081727A>G | CA516469984 | CLCN5 | c.813A>G (p.Ala271=) c.63A>G (p.Ala21=) c.603A>G (p.Ala201=) c.1100A>G c.663A>G (p.Ala221=) c.825A>G (p.Ala275=) | gnomAD v4 |
| X | g.50081727A>T | CA516469985 | CLCN5 | c.813A>T (p.Ala271=) c.63A>T (p.Ala21=) c.603A>T (p.Ala201=) c.1100A>T c.663A>T (p.Ala221=) c.825A>T (p.Ala275=) | |
| X | g.50081728G>A | CA413184196 | CLCN5 | c.814G>A (p.Val272Met) c.64G>A (p.Val22Met) c.604G>A (p.Val202Met) c.1101G>A c.664G>A (p.Val222Met) c.826G>A (p.Val276Met) | |
| X | g.50081728G>C | CA413184197 | CLCN5 | c.814G>C (p.Val272Leu) c.64G>C (p.Val22Leu) c.604G>C (p.Val202Leu) c.1101G>C c.664G>C (p.Val222Leu) c.826G>C (p.Val276Leu) | |
| X | g.50081728G>T | CA413184198 | CLCN5 | c.814G>T (p.Val272Leu) c.64G>T (p.Val22Leu) c.604G>T (p.Val202Leu) c.1101G>T c.664G>T (p.Val222Leu) c.826G>T (p.Val276Leu) | |
| X | g.50081729T>A | CA413184199 | CLCN5 | c.815T>A (p.Val272Glu) c.65T>A (p.Val22Glu) c.605T>A (p.Val202Glu) c.1102T>A c.665T>A (p.Val222Glu) c.827T>A (p.Val276Glu) | |
| X | g.50081729T>C | CA413184200 | CLCN5 | c.815T>C (p.Val272Ala) c.65T>C (p.Val22Ala) c.605T>C (p.Val202Ala) c.1102T>C c.665T>C (p.Val222Ala) c.827T>C (p.Val276Ala) | |
| X | g.50081729T>G | CA413184201 | CLCN5 | c.815T>G (p.Val272Gly) c.65T>G (p.Val22Gly) c.605T>G (p.Val202Gly) c.1102T>G c.665T>G (p.Val222Gly) c.827T>G (p.Val276Gly) | |
| X | g.50081730G>A | CA516469986 | CLCN5 | c.816G>A (p.Val272=) c.66G>A (p.Val22=) c.606G>A (p.Val202=) c.1103G>A c.666G>A (p.Val222=) c.828G>A (p.Val276=) | gnomAD v4 |
| X | g.50081730G>C | CA516469987 | CLCN5 | c.816G>C (p.Val272=) c.66G>C (p.Val22=) c.606G>C (p.Val202=) c.1103G>C c.666G>C (p.Val222=) c.828G>C (p.Val276=) | |
| X | g.50081730G>T | CA516469988 | CLCN5 | c.816G>T (p.Val272=) c.66G>T (p.Val22=) c.606G>T (p.Val202=) c.1103G>T c.666G>T (p.Val222=) c.828G>T (p.Val276=) | |
| X | g.50081731T>A | CA413184202 | CLCN5 | c.817T>A (p.Ser273Thr) c.67T>A (p.Ser23Thr) c.607T>A (p.Ser203Thr) c.1104T>A c.667T>A (p.Ser223Thr) c.829T>A (p.Ser277Thr) | |
| X | g.50081731T>C | CA413184203 | CLCN5 | c.817T>C (p.Ser273Pro) c.67T>C (p.Ser23Pro) c.607T>C (p.Ser203Pro) c.1104T>C c.667T>C (p.Ser223Pro) c.829T>C (p.Ser277Pro) | |
| X | g.50081731T>G | CA413184204 | CLCN5 | c.817T>G (p.Ser273Ala) c.67T>G (p.Ser23Ala) c.607T>G (p.Ser203Ala) c.1104T>G c.667T>G (p.Ser223Ala) c.829T>G (p.Ser277Ala) | |
| X | g.50081732C>A | CA413184207 | CLCN5 | c.818C>A (p.Ser273Ter) c.68C>A (p.Ser23Ter) c.608C>A (p.Ser203Ter) c.1105C>A c.668C>A (p.Ser223Ter) c.830C>A (p.Ser277Ter) | |
| X | g.50081732C= | CA2428767431 | CLCN5 | c.818C= (p.Ser273=) c.68C= (p.Ser23=) c.608C= (p.Ser203=) c.1105C= c.668C= (p.Ser223=) c.830C= (p.Ser277=) | |
| X | g.50081732C>G | CA413184206 | CLCN5 | c.818C>G (p.Ser273Ter) c.68C>G (p.Ser23Ter) c.608C>G (p.Ser203Ter) c.1105C>G c.668C>G (p.Ser223Ter) c.830C>G (p.Ser277Ter) | |
| X | g.50081732C>T | CA413184205 | CLCN5 | c.818C>T (p.Ser273Leu) c.68C>T (p.Ser23Leu) c.608C>T (p.Ser203Leu) c.1105C>T c.668C>T (p.Ser223Leu) c.830C>T (p.Ser277Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50081733A= | CA10413793 | CLCN5 | c.819A= (p.Ser273=) c.69A= (p.Ser23=) c.609A= (p.Ser203=) c.1106A= c.669A= (p.Ser223=) c.831A= (p.Ser277=) | |
| X | g.50081733A>C | CA10413794 | CLCN5 | c.819A>C (p.Ser273=) c.69A>C (p.Ser23=) c.609A>C (p.Ser203=) c.1106A>C c.669A>C (p.Ser223=) c.831A>C (p.Ser277=) | dbSNP gnomAD v4 |
| X | g.50081733A>G | CA329782206 | CLCN5 | c.819A>G (p.Ser273=) c.69A>G (p.Ser23=) c.609A>G (p.Ser203=) c.1106A>G c.669A>G (p.Ser223=) c.831A>G (p.Ser277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.50081734T>A | CA413184208 | CLCN5 | c.820T>A (p.Ser274Thr) c.70T>A (p.Ser24Thr) c.610T>A (p.Ser204Thr) c.1107T>A c.670T>A (p.Ser224Thr) c.832T>A (p.Ser278Thr) | |
| X | g.50081734T>C | CA413184209 | CLCN5 | c.820T>C (p.Ser274Pro) c.70T>C (p.Ser24Pro) c.610T>C (p.Ser204Pro) c.1107T>C c.670T>C (p.Ser224Pro) c.832T>C (p.Ser278Pro) | |
| X | g.50081734T>G | CA413184210 | CLCN5 | c.820T>G (p.Ser274Ala) c.70T>G (p.Ser24Ala) c.610T>G (p.Ser204Ala) c.1107T>G c.670T>G (p.Ser224Ala) c.832T>G (p.Ser278Ala) | |
| X | g.50081735C>A | CA413184211 | CLCN5 | c.821C>A (p.Ser274Tyr) c.71C>A (p.Ser24Tyr) c.611C>A (p.Ser204Tyr) c.1108C>A c.671C>A (p.Ser224Tyr) c.833C>A (p.Ser278Tyr) | |
| X | g.50081735C>G | CA413184212 | CLCN5 | c.821C>G (p.Ser274Cys) c.71C>G (p.Ser24Cys) c.611C>G (p.Ser204Cys) c.1108C>G c.671C>G (p.Ser224Cys) c.833C>G (p.Ser278Cys) | |
| X | g.50081735C>T | CA413184213 | CLCN5 | c.821C>T (p.Ser274Phe) c.71C>T (p.Ser24Phe) c.611C>T (p.Ser204Phe) c.1108C>T c.671C>T (p.Ser224Phe) c.833C>T (p.Ser278Phe) | |
| X | g.50081736T>A | CA516469989 | CLCN5 | c.822T>A (p.Ser274=) c.72T>A (p.Ser24=) c.612T>A (p.Ser204=) c.1109T>A c.672T>A (p.Ser224=) c.834T>A (p.Ser278=) | |
| X | g.50081736T>C | CA516469991 | CLCN5 | c.822T>C (p.Ser274=) c.72T>C (p.Ser24=) c.612T>C (p.Ser204=) c.1109T>C c.672T>C (p.Ser224=) c.834T>C (p.Ser278=) | |
| X | g.50081736T>G | CA516469990 | CLCN5 | c.822T>G (p.Ser274=) c.72T>G (p.Ser24=) c.612T>G (p.Ser204=) c.1109T>G c.672T>G (p.Ser224=) c.834T>G (p.Ser278=) | |
| X | g.50081737G>A | CA413184214 | CLCN5 | c.823G>A (p.Gly275Ser) c.73G>A (p.Gly25Ser) c.613G>A (p.Gly205Ser) c.1110G>A c.673G>A (p.Gly225Ser) c.835G>A (p.Gly279Ser) | |
| X | g.50081737G>C | CA413184215 | CLCN5 | c.823G>C (p.Gly275Arg) c.73G>C (p.Gly25Arg) c.613G>C (p.Gly205Arg) c.1110G>C c.673G>C (p.Gly225Arg) c.835G>C (p.Gly279Arg) | |
| X | g.50081737G>T | CA413184216 | CLCN5 | c.823G>T (p.Gly275Cys) c.73G>T (p.Gly25Cys) c.613G>T (p.Gly205Cys) c.1110G>T c.673G>T (p.Gly225Cys) c.835G>T (p.Gly279Cys) | |
| X | g.50081738G>A | CA413184217 | CLCN5 | c.824G>A (p.Gly275Asp) c.74G>A (p.Gly25Asp) c.614G>A (p.Gly205Asp) c.1111G>A c.674G>A (p.Gly225Asp) c.836G>A (p.Gly279Asp) | |
| X | g.50081738G>C | CA413184218 | CLCN5 | c.824G>C (p.Gly275Ala) c.74G>C (p.Gly25Ala) c.614G>C (p.Gly205Ala) c.1111G>C c.674G>C (p.Gly225Ala) c.836G>C (p.Gly279Ala) | |
| X | g.50081738G>T | CA413184219 | CLCN5 | c.824G>T (p.Gly275Val) c.74G>T (p.Gly25Val) c.614G>T (p.Gly205Val) c.1111G>T c.674G>T (p.Gly225Val) c.836G>T (p.Gly279Val) | |
| X | g.50081739C>A | CA516469992 | CLCN5 | c.825C>A (p.Gly275=) c.75C>A (p.Gly25=) c.615C>A (p.Gly205=) c.1112C>A c.675C>A (p.Gly225=) c.837C>A (p.Gly279=) | |
| X | g.50081739C>G | CA516469994 | CLCN5 | c.825C>G (p.Gly275=) c.75C>G (p.Gly25=) c.615C>G (p.Gly205=) c.1112C>G c.675C>G (p.Gly225=) c.837C>G (p.Gly279=) | |
| X | g.50081739C>T | CA516469995 | CLCN5 | c.825C>T (p.Gly275=) c.75C>T (p.Gly25=) c.615C>T (p.Gly205=) c.1112C>T c.675C>T (p.Gly225=) c.837C>T (p.Gly279=) | |
| X | g.50081740T>A | CA413184221 | CLCN5 | c.826T>A (p.Leu276Met) c.76T>A (p.Leu26Met) c.616T>A (p.Leu206Met) c.1113T>A c.676T>A (p.Leu226Met) c.838T>A (p.Leu280Met) | |
| X | g.50081740T>C | CA10413795 | CLCN5 | c.826T>C (p.Leu276=) c.76T>C (p.Leu26=) c.616T>C (p.Leu206=) c.1113T>C c.676T>C (p.Leu226=) c.838T>C (p.Leu280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081740T>G | CA413184220 | CLCN5 | c.826T>G (p.Leu276Val) c.76T>G (p.Leu26Val) c.616T>G (p.Leu206Val) c.1113T>G c.676T>G (p.Leu226Val) c.838T>G (p.Leu280Val) | |
| X | g.50081740T= | CA2428767432 | CLCN5 | c.826T= (p.Leu276=) c.76T= (p.Leu26=) c.616T= (p.Leu206=) c.1113T= c.676T= (p.Leu226=) c.838T= (p.Leu280=) | |
| X | g.50081741T>A | CA413184222 | CLCN5 | c.827T>A (p.Leu276Ter) c.77T>A (p.Leu26Ter) c.617T>A (p.Leu206Ter) c.1114T>A c.677T>A (p.Leu226Ter) c.839T>A (p.Leu280Ter) | |
| X | g.50081741T>C | CA413184223 | CLCN5 | c.827T>C (p.Leu276Ser) c.77T>C (p.Leu26Ser) c.617T>C (p.Leu206Ser) c.1114T>C c.677T>C (p.Leu226Ser) c.839T>C (p.Leu280Ser) | |
| X | g.50081741T>G | CA413184224 | CLCN5 | c.827T>G (p.Leu276Trp) c.77T>G (p.Leu26Trp) c.617T>G (p.Leu206Trp) c.1114T>G c.677T>G (p.Leu226Trp) c.839T>G (p.Leu280Trp) |